1 |
ANKS6 |
NM_173551.5(ANKS6):c.1973-3C>G |
SNV |
Pathogenic |
64356 |
rs397514257 |
9:101530535-101530535 |
9:98768253-98768253 |
2 |
ANKS6 |
NM_173551.5(ANKS6):c.2054_2064del (p.His685fs) |
Deletion |
Pathogenic |
64357 |
rs587777024 |
9:101530441-101530451 |
9:98768159-98768169 |
3 |
ANKS6 |
NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer) |
Deletion |
Pathogenic |
64358 |
rs587777025 |
9:101513333-101513335 |
9:98751051-98751053 |
4 |
ANKS6 |
NM_173551.5(ANKS6):c.2512-2A>C |
SNV |
Pathogenic |
64359 |
rs397514258 |
9:101498907-101498907 |
9:98736625-98736625 |
5 |
ANKS6 |
NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter) |
SNV |
Pathogenic |
571622 |
rs756090222 |
9:101552521-101552521 |
9:98790239-98790239 |
6 |
ANKS6 |
NM_173551.5(ANKS6):c.694_718dup (p.Val240fs) |
Duplication |
Pathogenic |
574976 |
rs1564228101 |
9:101552529-101552530 |
9:98790247-98790248 |
7 |
ANKS6 |
NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter) |
SNV |
Pathogenic |
579608 |
rs369437168 |
9:101540694-101540694 |
9:98778412-98778412 |
8 |
ANKS6 |
NM_173551.5(ANKS6):c.539_540del (p.Leu180fs) |
Deletion |
Pathogenic |
661012 |
rs1588420907 |
9:101552708-101552709 |
9:98790426-98790427 |
9 |
ANKS6 |
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) |
SNV |
Pathogenic/Likely pathogenic |
64355 |
rs377750405 |
9:101542517-101542517 |
9:98780235-98780235 |
10 |
ANKS6 |
NM_173551.5(ANKS6):c.847G>A (p.Val283Ile) |
SNV |
Uncertain significance |
474455 |
rs748439897 |
9:101552401-101552401 |
9:98790119-98790119 |
11 |
ANKS6 |
NM_173551.5(ANKS6):c.413A>G (p.Asn138Ser) |
SNV |
Uncertain significance |
474452 |
rs374511363 |
9:101552835-101552835 |
9:98790553-98790553 |
12 |
ANKS6 |
NM_173551.5(ANKS6):c.2327A>G (p.Asp776Gly) |
SNV |
Uncertain significance |
474449 |
rs372265310 |
9:101513378-101513378 |
9:98751096-98751096 |
13 |
ANKS6 |
NM_173551.5(ANKS6):c.238A>G (p.Thr80Ala) |
SNV |
Uncertain significance |
474450 |
rs1554752436 |
9:101558536-101558536 |
9:98796254-98796254 |
14 |
ANKS6 |
NM_173551.5(ANKS6):c.2197A>C (p.Thr733Pro) |
SNV |
Uncertain significance |
579133 |
rs201419783 |
9:101518831-101518831 |
9:98756549-98756549 |
15 |
ANKS6 |
NM_173551.5(ANKS6):c.2113C>T (p.Pro705Ser) |
SNV |
Uncertain significance |
566534 |
rs146038901 |
9:101530392-101530392 |
9:98768110-98768110 |
16 |
ANKS6 |
NM_173551.5(ANKS6):c.806A>G (p.Lys269Arg) |
SNV |
Uncertain significance |
566672 |
rs200902480 |
9:101552442-101552442 |
9:98790160-98790160 |
17 |
ANKS6 |
NM_173551.5(ANKS6):c.2105C>T (p.Pro702Leu) |
SNV |
Uncertain significance |
567567 |
rs760387934 |
9:101530400-101530400 |
9:98768118-98768118 |
18 |
ANKS6 |
NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys) |
SNV |
Uncertain significance |
474453 |
rs181546859 |
9:101552716-101552716 |
9:98790434-98790434 |
19 |
ANKS6 |
NM_173551.5(ANKS6):c.1115A>G (p.Asn372Ser) |
SNV |
Uncertain significance |
474442 |
rs201297615 |
9:101544853-101544853 |
9:98782571-98782571 |
20 |
ANKS6 |
NM_173551.5(ANKS6):c.1913C>T (p.Ser638Leu) |
SNV |
Uncertain significance |
474446 |
rs200373053 |
9:101533237-101533237 |
9:98770955-98770955 |
21 |
ANKS6 |
NM_173551.5(ANKS6):c.1007C>T (p.Thr336Met) |
SNV |
Uncertain significance |
541400 |
rs376870807 |
9:101546340-101546340 |
9:98784058-98784058 |
22 |
ANKS6 |
NM_173551.5(ANKS6):c.1176T>G (p.Asn392Lys) |
SNV |
Uncertain significance |
541401 |
rs776931798 |
9:101544792-101544792 |
9:98782510-98782510 |
23 |
ANKS6 |
NM_173551.5(ANKS6):c.2264C>T (p.Ser755Leu) |
SNV |
Uncertain significance |
541402 |
rs370230003 |
9:101518764-101518764 |
9:98756482-98756482 |
24 |
ANKS6 |
NM_173551.5(ANKS6):c.2052C>A (p.Ser684Arg) |
SNV |
Uncertain significance |
541403 |
rs1554742278 |
9:101530453-101530453 |
9:98768171-98768171 |
25 |
ANKS6 |
NM_173551.5(ANKS6):c.2233G>A (p.Gly745Arg) |
SNV |
Uncertain significance |
582762 |
rs202244716 |
9:101518795-101518795 |
9:98756513-98756513 |
26 |
ANKS6 |
NM_173551.5(ANKS6):c.2267C>T (p.Ser756Leu) |
SNV |
Uncertain significance |
638870 |
rs199722684 |
9:101518761-101518761 |
9:98756479-98756479 |
27 |
ANKS6 |
NM_173551.5(ANKS6):c.2503G>A (p.Ala835Thr) |
SNV |
Uncertain significance |
640676 |
rs765164797 |
9:101507849-101507849 |
9:98745567-98745567 |
28 |
ANKS6 |
NM_173551.5(ANKS6):c.664C>G (p.Arg222Gly) |
SNV |
Uncertain significance |
641730 |
rs41283630 |
9:101552584-101552584 |
9:98790302-98790302 |
29 |
ANKS6 |
NM_173551.5(ANKS6):c.1220-6C>T |
SNV |
Uncertain significance |
641802 |
rs1371737147 |
9:101542625-101542625 |
9:98780343-98780343 |
30 |
ANKS6 |
NM_173551.5(ANKS6):c.424C>T (p.Arg142Trp) |
SNV |
Uncertain significance |
658948 |
rs199671276 |
9:101552824-101552824 |
9:98790542-98790542 |
31 |
ANKS6 |
NM_173551.5(ANKS6):c.1421C>T (p.Thr474Met) |
SNV |
Uncertain significance |
843092 |
|
9:101540654-101540654 |
9:98778372-98778372 |
32 |
ANKS6 |
NM_173551.5(ANKS6):c.457C>T (p.Arg153Trp) |
SNV |
Uncertain significance |
853983 |
|
9:101552791-101552791 |
9:98790509-98790509 |
33 |
ANKS6 |
NM_173551.5(ANKS6):c.1391A>G (p.Asn464Ser) |
SNV |
Uncertain significance |
857507 |
|
9:101540684-101540684 |
9:98778402-98778402 |
34 |
ANKS6 |
NM_173551.5(ANKS6):c.1721G>A (p.Arg574Gln) |
SNV |
Uncertain significance |
857938 |
|
9:101536259-101536259 |
9:98773977-98773977 |
35 |
ANKS6 |
NM_173551.5(ANKS6):c.1142A>G (p.Asn381Ser) |
SNV |
Uncertain significance |
935978 |
|
9:101544826-101544826 |
9:98782544-98782544 |
36 |
ANKS6 |
NM_173551.5(ANKS6):c.907+6C>T |
SNV |
Uncertain significance |
937024 |
|
9:101547108-101547108 |
9:98784826-98784826 |
37 |
ANKS6 |
NM_173551.5(ANKS6):c.209C>G (p.Pro70Arg) |
SNV |
Uncertain significance |
938677 |
|
9:101558565-101558565 |
9:98796283-98796283 |
38 |
ANKS6 |
NM_173551.5(ANKS6):c.1310C>T (p.Ser437Leu) |
SNV |
Uncertain significance |
947081 |
|
9:101542529-101542529 |
9:98780247-98780247 |
39 |
ANKS6 |
NM_173551.5(ANKS6):c.1528T>C (p.Ser510Pro) |
SNV |
Uncertain significance |
958951 |
|
9:101540547-101540547 |
9:98778265-98778265 |
40 |
ANKS6 |
NM_173551.5(ANKS6):c.1507C>G (p.Pro503Ala) |
SNV |
Uncertain significance |
959443 |
|
9:101540568-101540568 |
9:98778286-98778286 |
41 |
ANKS6 |
NM_173551.5(ANKS6):c.1948G>A (p.Gly650Ser) |
SNV |
Uncertain significance |
962630 |
|
9:101533202-101533202 |
9:98770920-98770920 |
42 |
ANKS6 |
NM_173551.5(ANKS6):c.7G>C (p.Glu3Gln) |
SNV |
Uncertain significance |
962631 |
|
9:101558767-101558767 |
9:98796485-98796485 |
43 |
ANKS6 |
NM_173551.5(ANKS6):c.1099G>T (p.Ala367Ser) |
SNV |
Uncertain significance |
968826 |
|
9:101546248-101546248 |
9:98783966-98783966 |
44 |
ANKS6 |
NM_173551.5(ANKS6):c.850A>G (p.Arg284Gly) |
SNV |
Uncertain significance |
970672 |
|
9:101552398-101552398 |
9:98790116-98790116 |
45 |
ANKS6 |
NM_173551.5(ANKS6):c.1690C>A (p.Pro564Thr) |
SNV |
Likely benign |
767308 |
rs190075616 |
9:101536290-101536290 |
9:98774008-98774008 |
46 |
ANKS6 |
NM_173551.5(ANKS6):c.538C>T (p.Leu180=) |
SNV |
Likely benign |
771090 |
rs201725414 |
9:101552710-101552710 |
9:98790428-98790428 |
47 |
ANKS6 |
NM_173551.5(ANKS6):c.1458T>C (p.Pro486=) |
SNV |
Likely benign |
262841 |
rs201904871 |
9:101540617-101540617 |
9:98778335-98778335 |
48 |
ANKS6 |
NM_173551.5(ANKS6):c.1525C>A (p.Arg509Ser) |
SNV |
Likely benign |
707351 |
rs150567578 |
9:101540550-101540550 |
9:98778268-98778268 |
49 |
ANKS6 |
NM_173551.5(ANKS6):c.1611A>C (p.Thr537=) |
SNV |
Likely benign |
719108 |
rs779026149 |
9:101539693-101539693 |
9:98777411-98777411 |
50 |
ANKS6 |
NM_173551.5(ANKS6):c.2094G>A (p.Pro698=) |
SNV |
Likely benign |
720041 |
rs368311212 |
9:101530411-101530411 |
9:98768129-98768129 |