1 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter) |
SNV |
Pathogenic
|
2048 |
rs104894470 |
GRCh37: 14:68193814-68193814 GRCh38: 14:67727097-67727097 |
2 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.451C>A (p.His151Asn) |
SNV |
Pathogenic
|
2052 |
rs104894475 |
GRCh37: 14:68193700-68193700 GRCh38: 14:67726983-67726983 |
3 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.688C>G (p.Pro230Ala) |
SNV |
Pathogenic
|
2053 |
rs104894476 |
GRCh37: 14:68195937-68195937 GRCh38: 14:67729220-67729220 |
4 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.523T>C (p.Ser175Pro) |
SNV |
Pathogenic
|
2056 |
rs104894472 |
GRCh37: 14:68193772-68193772 GRCh38: 14:67727055-67727055 |
5 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) |
SNV |
Pathogenic
|
2057 |
rs104894473 |
GRCh37: 14:68191273-68191273 GRCh38: 14:67724556-67724556 |
6 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.429_432delinsGGT (p.His143fs) |
INDEL |
Pathogenic
|
977808 |
rs2038182629 |
GRCh37: 14:68192853-68192856 GRCh38: 14:67726136-67726139 |
7 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) |
SNV |
Pathogenic
|
805924 |
rs745871149 |
GRCh37: 14:68193868-68193868 GRCh38: 14:67727151-67727151 |
8 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.659-2A>T |
SNV |
Pathogenic
|
977810 |
rs2038231425 |
GRCh37: 14:68195906-68195906 GRCh38: 14:67729189-67729189 |
9 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.38C>A (p.Ser13Ter) |
SNV |
Pathogenic
|
977812 |
rs912107188 |
GRCh37: 14:68189397-68189397 GRCh38: 14:67722680-67722680 |
10 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.43del (p.Leu15fs) |
DEL |
Pathogenic
|
1454036 |
|
GRCh37: 14:68189401-68189401 GRCh38: 14:67722684-67722684 |
11 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.68+1G>A |
SNV |
Pathogenic
|
1419341 |
|
GRCh37: 14:68189428-68189428 GRCh38: 14:67722711-67722711 |
12 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.52del (p.Met17_Val18insTer) |
DEL |
Pathogenic
|
1451652 |
|
GRCh37: 14:68189410-68189410 GRCh38: 14:67722693-67722693 |
13 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.866G>A (p.Trp289Ter) |
SNV |
Pathogenic
|
1452807 |
|
GRCh37: 14:68200480-68200480 GRCh38: 14:67733763-67733763 |
14 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.393T>A (p.Cys131Ter) |
SNV |
Pathogenic
|
1071767 |
|
GRCh37: 14:68192817-68192817 GRCh38: 14:67726100-67726100 |
15 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.524C>A (p.Ser175Ter) |
SNV |
Pathogenic
|
1076205 |
|
GRCh37: 14:68193773-68193773 GRCh38: 14:67727056-67727056 |
16 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.778del (p.Glu260fs) |
DEL |
Pathogenic
Pathogenic
|
143163 |
rs527236099 |
GRCh37: 14:68196025-68196025 GRCh38: 14:67729308-67729308 |
17 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) |
SNV |
Pathogenic
Pathogenic
|
2061 |
rs202126574 |
GRCh37: 14:68192801-68192801 GRCh38: 14:67726084-67726084 |
18 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) |
MICROSAT |
Pathogenic
|
203385 |
rs794729650 |
GRCh37: 14:68189416-68189419 GRCh38: 14:67722699-67722702 |
19 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.784dup (p.Ala262fs) |
DUP |
Pathogenic
|
648633 |
rs1594867551 |
GRCh37: 14:68196028-68196029 GRCh38: 14:67729311-67729312 |
20 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) |
SNV |
Pathogenic
|
663830 |
rs753959716 |
GRCh37: 14:68193858-68193858 GRCh38: 14:67727141-67727141 |
21 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu) |
INDEL |
Pathogenic
|
837228 |
rs2038232911 |
GRCh37: 14:68195947-68195948 GRCh38: 14:67729230-67729231 |
22 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.437T>A (p.Val146Asp) |
SNV |
Pathogenic
|
841398 |
rs116649873 |
GRCh37: 14:68192861-68192861 GRCh38: 14:67726144-67726144 |
23 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.496del (p.Ala166fs) |
DEL |
Pathogenic
|
1072336 |
|
GRCh37: 14:68193745-68193745 GRCh38: 14:67727028-67727028 |
24 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.823G>T (p.Glu275Ter) |
SNV |
Pathogenic
|
1072734 |
|
GRCh37: 14:68196072-68196072 GRCh38: 14:67729355-67729355 |
25 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.601T>C (p.Cys201Arg) |
SNV |
Pathogenic
|
866060 |
rs2038196341 |
GRCh37: 14:68193850-68193850 GRCh38: 14:67727133-67727133 |
26 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg) |
SNV |
Pathogenic
|
1074472 |
|
GRCh37: 14:68191854-68191854 GRCh38: 14:67725137-67725137 |
27 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.250C>T (p.Arg84Ter) |
SNV |
Pathogenic
|
488802 |
rs1349849938 |
GRCh37: 14:68191878-68191878 GRCh38: 14:67725161-67725161 |
28 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) |
SNV |
Pathogenic
|
866945 |
rs761167763 |
GRCh37: 14:68193754-68193754 GRCh38: 14:67727037-67727037 |
29 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.812_813del (p.Ala271fs) |
DEL |
Pathogenic
|
1071004 |
|
GRCh37: 14:68196061-68196062 GRCh38: 14:67729344-67729345 |
30 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.226G>A (p.Gly76Arg) |
SNV |
Pathogenic
|
986946 |
rs368489658 |
GRCh37: 14:68191854-68191854 GRCh38: 14:67725137-67725137 |
31 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.580dup (p.Tyr194fs) |
DUP |
Pathogenic
|
1075351 |
|
GRCh37: 14:68193828-68193829 GRCh38: 14:67727111-67727112 |
32 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.658+1G>A |
SNV |
Pathogenic
|
2058 |
rs387906272 |
GRCh37: 14:68193908-68193908 GRCh38: 14:67727191-67727191 |
33 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro) |
SNV |
Pathogenic
|
1067256 |
|
GRCh37: 14:68191906-68191906 GRCh38: 14:67725189-67725189 |
34 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.680_683del (p.Ala227fs) |
DEL |
Pathogenic
|
836859 |
rs2038232008 |
GRCh37: 14:68195929-68195932 GRCh38: 14:67729212-67729215 |
35 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.210dup (p.Arg71fs) |
DUP |
Pathogenic
|
197878 |
rs797044761 |
GRCh37: 14:68191837-68191838 GRCh38: 14:67725120-67725121 |
36 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter) |
SNV |
Pathogenic
|
934121 |
rs753074829 |
GRCh37: 14:68193831-68193831 GRCh38: 14:67727114-67727114 |
37 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.535C>G (p.His179Asp) |
SNV |
Pathogenic
|
935496 |
rs2038195054 |
GRCh37: 14:68193784-68193784 GRCh38: 14:67727067-67727067 |
38 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.869dup (p.Ser291fs) |
DUP |
Pathogenic
|
936624 |
rs2038316193 |
GRCh37: 14:68200482-68200483 GRCh38: 14:67733765-67733766 |
39 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.848+2T>C |
SNV |
Pathogenic
|
236431 |
rs878853338 |
GRCh37: 14:68196099-68196099 GRCh38: 14:67729382-67729382 |
40 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.488del (p.Lys163fs) |
DEL |
Pathogenic
|
970561 |
rs2038193754 |
GRCh37: 14:68193735-68193735 GRCh38: 14:67727018-67727018 |
41 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.715dup (p.Arg239fs) |
DUP |
Pathogenic
|
865754 |
rs760813820 |
GRCh37: 14:68195962-68195963 GRCh38: 14:67729245-67729246 |
42 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.446T>C (p.Leu149Pro) |
SNV |
Pathogenic
|
866614 |
rs747257567 |
GRCh37: 14:68192870-68192870 GRCh38: 14:67726153-67726153 |
43 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) |
SNV |
Pathogenic
|
2050 |
rs104894471 |
GRCh37: 14:68191305-68191305 GRCh38: 14:67724588-67724588 |
44 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) |
SNV |
Pathogenic
|
2051 |
rs104894474 |
GRCh37: 14:68192803-68192803 GRCh38: 14:67726086-67726086 |
45 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.451C>G (p.His151Asp) |
SNV |
Pathogenic
|
2054 |
rs104894475 |
GRCh37: 14:68193700-68193700 GRCh38: 14:67726983-67726983 |
46 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) |
SNV |
Pathogenic
|
2059 |
rs121434337 |
GRCh37: 14:68193713-68193713 GRCh38: 14:67726996-67726996 |
47 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.784del (p.Ala262fs) |
DEL |
Pathogenic
|
1458632 |
|
GRCh37: 14:68196029-68196029 GRCh38: 14:67729312-67729312 |
48 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter) |
SNV |
Pathogenic
|
835782 |
rs752242512 |
GRCh37: 14:68191944-68191944 GRCh38: 14:67725227-67725227 |
49 |
GPHN, RDH12, ZFYVE26 |
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) |
DEL |
Pathogenic
|
2047 |
rs386834261 |
GRCh37: 14:68196054-68196058 GRCh38: 14:67729337-67729341 |
50 |
GPHN, RDH12 |
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) |
SNV |
Pathogenic
|
2049 |
rs28940314 |
GRCh37: 14:68191267-68191267 GRCh38: 14:67724550-67724550 |