1 |
SLC26A2 |
NM_000112.4(SLC26A2):c.699+2T>C |
SNV |
Pathogenic
|
371684 |
rs1057517461 |
GRCh37: 5:149357916-149357916 GRCh38: 5:149978353-149978353 |
2 |
SLC26A2 |
NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter) |
SNV |
Pathogenic
|
655153 |
rs1429562386 |
GRCh37: 5:149357912-149357912 GRCh38: 5:149978349-149978349 |
3 |
SLC26A2 |
NM_000112.4(SLC26A2):c.299del (p.Pro100fs) |
DEL |
Pathogenic
|
816912 |
rs1581230727 |
GRCh37: 5:149357512-149357512 GRCh38: 5:149977949-149977949 |
4 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs) |
INDEL |
Pathogenic
|
967713 |
rs1755093032 |
GRCh37: 5:149360781-149360806 GRCh38: 5:149981218-149981243 |
5 |
SLC26A2 |
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) |
DEL |
Pathogenic
|
189077 |
rs786204675 |
GRCh37: 5:149357664-149357664 GRCh38: 5:149978101-149978101 |
6 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs) |
DUP |
Pathogenic
Likely Pathogenic
|
371758 |
rs1057517511 |
GRCh37: 5:149360692-149360693 GRCh38: 5:149981129-149981130 |
7 |
SLC26A2 |
NM_000112.4(SLC26A2):c.391del (p.Leu131fs) |
DEL |
Pathogenic
Likely Pathogenic
|
4088 |
rs786200881 |
GRCh37: 5:149357604-149357604 GRCh38: 5:149978041-149978041 |
8 |
SLC26A2 |
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter) |
SNV |
Pathogenic
|
56026 |
rs386833507 |
GRCh37: 5:149357270-149357270 GRCh38: 5:149977707-149977707 |
9 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter) |
SNV |
Pathogenic
|
550571 |
rs1554095364 |
GRCh37: 5:149360920-149360920 GRCh38: 5:149981357-149981357 |
10 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1926del (p.Leu644fs) |
DEL |
Pathogenic
|
558379 |
rs1481910744 |
GRCh37: 5:149361082-149361082 GRCh38: 5:149981519-149981519 |
11 |
SLC26A2 |
NM_000112.4(SLC26A2):c.736_739del (p.Val246fs) |
DEL |
Pathogenic
Likely Pathogenic
|
371773 |
rs1057517524 |
GRCh37: 5:149359889-149359892 GRCh38: 5:149980326-149980329 |
12 |
SLC26A2 |
NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer) |
MICROSAT |
Pathogenic
|
553407 |
rs1554095154 |
GRCh37: 5:149357788-149357791 GRCh38: 5:149978225-149978228 |
13 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1994dup (p.His665fs) |
DUP |
Pathogenic
|
1285445 |
|
GRCh37: 5:149361149-149361150 GRCh38: 5:149981586-149981587 |
14 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1810_1811del (p.Val604fs) |
DEL |
Pathogenic
|
1388388 |
|
GRCh37: 5:149360965-149360966 GRCh38: 5:149981402-149981403 |
15 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1393_1394del (p.Leu465fs) |
DEL |
Pathogenic
|
1402115 |
|
GRCh37: 5:149360547-149360548 GRCh38: 5:149980984-149980985 |
16 |
SLC26A2 |
NM_000112.4(SLC26A2):c.78_88dup (p.Glu30fs) |
DUP |
Pathogenic
|
1454165 |
|
GRCh37: 5:149357282-149357283 GRCh38: 5:149977719-149977720 |
17 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1272dup (p.Asn425Ter) |
DUP |
Pathogenic
|
1456395 |
|
GRCh37: 5:149360427-149360428 GRCh38: 5:149980864-149980865 |
18 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1155del (p.Asp385fs) |
DEL |
Pathogenic
|
1436633 |
|
GRCh37: 5:149360311-149360311 GRCh38: 5:149980748-149980748 |
19 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1306del (p.Thr436fs) |
DEL |
Pathogenic
|
1456546 |
|
GRCh37: 5:149360462-149360462 GRCh38: 5:149980899-149980899 |
20 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1147_1150del (p.Val382_Ala383insTer) |
DEL |
Pathogenic
|
1452842 |
|
GRCh37: 5:149360301-149360304 GRCh38: 5:149980738-149980741 |
21 |
SLC26A2 |
NM_000112.4(SLC26A2):c.58_62dup (p.Asp21fs) |
DUP |
Pathogenic
|
1453498 |
|
GRCh37: 5:149357270-149357271 GRCh38: 5:149977707-149977708 |
22 |
SLC26A2 |
NM_000112.4(SLC26A2):c.218del (p.Lys73fs) |
DEL |
Pathogenic
|
1453606 |
|
GRCh37: 5:149357429-149357429 GRCh38: 5:149977866-149977866 |
23 |
SLC26A2 |
NM_000112.4(SLC26A2):c.100del (p.Glu34fs) |
DEL |
Pathogenic
|
1453452 |
|
GRCh37: 5:149357313-149357313 GRCh38: 5:149977750-149977750 |
24 |
SLC26A2 |
NM_000112.4(SLC26A2):c.438del (p.Phe146fs) |
DEL |
Pathogenic
|
557601 |
rs769859976 |
GRCh37: 5:149357647-149357647 GRCh38: 5:149978084-149978084 |
25 |
SLC26A2 |
NM_000112.4(SLC26A2):c.138dup (p.Gln47fs) |
DUP |
Pathogenic
|
964035 |
rs1755018682 |
GRCh37: 5:149357352-149357353 GRCh38: 5:149977789-149977790 |
26 |
SLC26A2 |
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) |
DUP |
Pathogenic
|
656557 |
rs769859976 |
GRCh37: 5:149357646-149357647 GRCh38: 5:149978083-149978084 |
27 |
SLC26A2 |
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) |
MICROSAT |
Pathogenic
Likely Pathogenic
|
371777 |
rs763198695 |
GRCh37: 5:149357698-149357699 GRCh38: 5:149978135-149978136 |
28 |
SLC26A2 |
NM_000112.4(SLC26A2):c.819del (p.Leu275fs) |
DEL |
Pathogenic
|
935588 |
rs750882937 |
GRCh37: 5:149359974-149359974 GRCh38: 5:149980411-149980411 |
29 |
SLC26A2 |
NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs) |
DEL |
Pathogenic
|
971526 |
rs1459144096 |
GRCh37: 5:149357226-149357230 GRCh38: 5:149977663-149977667 |
30 |
SLC26A2 |
NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs) |
DUP |
Pathogenic
Likely Pathogenic
|
371749 |
rs1057517504 |
GRCh37: 5:149357449-149357450 GRCh38: 5:149977886-149977887 |
31 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1441dup (p.Ser481fs) |
DUP |
Pathogenic
|
1070678 |
|
GRCh37: 5:149360591-149360592 GRCh38: 5:149981028-149981029 |
32 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val) |
SNV |
Pathogenic
|
56012 |
rs386833493 |
GRCh37: 5:149360313-149360313 GRCh38: 5:149980750-149980750 |
33 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter) |
SNV |
Pathogenic
|
928888 |
rs1755094376 |
GRCh37: 5:149360811-149360811 GRCh38: 5:149981248-149981248 |
34 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) |
DEL |
Pathogenic
Likely Pathogenic
|
56016 |
rs386833497 |
GRCh37: 5:149360806-149360806 GRCh38: 5:149981243-149981243 |
35 |
SLC26A2 |
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) |
SNV |
Pathogenic
|
4091 |
rs104893918 |
GRCh37: 5:149361300-149361300 GRCh38: 5:149981737-149981737 |
36 |
SLC26A2 |
NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs) |
MICROSAT |
Pathogenic
|
436750 |
rs1554095433 |
GRCh37: 5:149361276-149361277 GRCh38: 5:149981713-149981714 |
37 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter) |
SNV |
Pathogenic
|
835924 |
rs771098555 |
GRCh37: 5:149360499-149360499 GRCh38: 5:149980936-149980936 |
38 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1432del (p.Leu478fs) |
DEL |
Pathogenic
|
856738 |
rs1755089179 |
GRCh37: 5:149360586-149360586 GRCh38: 5:149981023-149981023 |
39 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1714del (p.Leu572fs) |
DEL |
Pathogenic
|
1070109 |
|
GRCh37: 5:149360869-149360869 GRCh38: 5:149981306-149981306 |
40 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1441del (p.Ser481fs) |
DEL |
Pathogenic
|
557077 |
rs745774620 |
GRCh37: 5:149360592-149360592 GRCh38: 5:149981029-149981029 |
41 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter) |
SNV |
Pathogenic
|
1071456 |
|
GRCh37: 5:149360402-149360402 GRCh38: 5:149980839-149980839 |
42 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) |
SNV |
Pathogenic
Pathogenic
|
550616 |
rs1554095397 |
GRCh37: 5:149361143-149361143 GRCh38: 5:149981580-149981580 |
43 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1982del (p.Thr661fs) |
DEL |
Pathogenic
Likely Pathogenic
|
371722 |
rs762137330 |
GRCh37: 5:149361138-149361138 GRCh38: 5:149981575-149981575 |
44 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) |
SNV |
Pathogenic
|
942484 |
rs905644652 |
GRCh37: 5:149360933-149360933 GRCh38: 5:149981370-149981370 |
45 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter) |
SNV |
Pathogenic
Likely Pathogenic
|
371786 |
rs1057517532 |
GRCh37: 5:149360216-149360216 GRCh38: 5:149980653-149980653 |
46 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs) |
DEL |
Pathogenic
|
960730 |
rs780990131 |
GRCh37: 5:149360575-149360575 GRCh38: 5:149981012-149981012 |
47 |
SLC26A2 |
NM_000112.4(SLC26A2):c.796dup (p.Thr266fs) |
DUP |
Pathogenic
Pathogenic
|
1326262 |
|
GRCh37: 5:149359951-149359952 GRCh38: 5:149980388-149980389 |
48 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1203_1204insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATTTTCT (p.Glu402delinsPhePhePhePhePhePheXaaXaaXaaXaaThrGlyPheHisLeuValSerGlnAspGlyLeuAspLeuLeuThrSerTer) |
INSERT |
Pathogenic
|
1374813 |
|
GRCh37: 5:149360354-149360355 GRCh38: 5:149980791-149980792 |
49 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1397dup (p.Leu466fs) |
DUP |
Pathogenic
|
1378416 |
|
GRCh37: 5:149360551-149360552 GRCh38: 5:149980988-149980989 |
50 |
SLC26A2 |
NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs) |
DEL |
Pathogenic
Likely Pathogenic
|
371708 |
rs1057517474 |
GRCh37: 5:149361109-149361112 GRCh38: 5:149981546-149981549 |