Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.101770098T>A | CA386302597 | GNPTAB | c.1207A>T (p.Ile403Phe) c.1126A>T (p.Ile376Phe) c.991A>T (p.Ile331Phe) c.-21A>T (n.-21A>T) | |
12 | g.101770098T>C | CA6746682 | GNPTAB | c.1207A>G (p.Ile403Val) c.1126A>G (p.Ile376Val) c.991A>G (p.Ile331Val) c.-21A>G (n.-21A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.101770098T>G | CA386302599 | GNPTAB | c.1207A>C (p.Ile403Leu) c.1126A>C (p.Ile376Leu) c.991A>C (p.Ile331Leu) c.-21A>C (n.-21A>C) | |
12 | g.101770098T= | CA2058957868 | GNPTAB | c.1207A= (p.Ile403=) c.1126A= (p.Ile376=) c.991A= (p.Ile331=) c.-21A= (n.-21A=) | |
12 | g.101770099A>C | CA386302601 | GNPTAB | c.1206T>G (p.Phe402Leu) c.1125T>G (p.Phe375Leu) c.990T>G (p.Phe330Leu) c.-22T>G (n.-22T>G) | |
12 | g.101770099A>G | CA481577861 | GNPTAB | c.1206T>C (p.Phe402=) c.1125T>C (p.Phe375=) c.990T>C (p.Phe330=) c.-22T>C (n.-22T>C) | |
12 | g.101770099A>T | CA386302603 | GNPTAB | c.1206T>A (p.Phe402Leu) c.1125T>A (p.Phe375Leu) c.990T>A (p.Phe330Leu) c.-22T>A (n.-22T>A) | |
12 | g.101770101dup | CA343339 | GNPTAB | c.1206dup (p.Ile403TyrfsTer5) c.1125dup (p.Ile376TyrfsTer5) c.990dup (p.Ile331TyrfsTer5) c.-22dup (n.-22dup) | ClinVar dbSNP |
12 | g.101770100A>C | CA386302605 | GNPTAB | c.1205T>G (p.Phe402Cys) c.1124T>G (p.Phe375Cys) c.989T>G (p.Phe330Cys) c.-23T>G (n.-23T>G) | |
12 | g.101770100A>G | CA386302606 | GNPTAB | c.1205T>C (p.Phe402Ser) c.1124T>C (p.Phe375Ser) c.989T>C (p.Phe330Ser) c.-23T>C (n.-23T>C) | |
12 | g.101770100A>T | CA386302607 | GNPTAB | c.1205T>A (p.Phe402Tyr) c.1124T>A (p.Phe375Tyr) c.989T>A (p.Phe330Tyr) c.-23T>A (n.-23T>A) | |
12 | g.101770101A= | CA2058957869 | GNPTAB | c.1204T= (p.Phe402=) c.1123T= (p.Phe375=) c.988T= (p.Phe330=) c.-24T= (n.-24T=) | |
12 | g.101770101A>C | CA386302611 | GNPTAB | c.1204T>G (p.Phe402Val) c.1123T>G (p.Phe375Val) c.988T>G (p.Phe330Val) c.-24T>G (n.-24T>G) | |
12 | g.101770101A>G | CA6746683 | GNPTAB | c.1204T>C (p.Phe402Leu) c.1123T>C (p.Phe375Leu) c.988T>C (p.Phe330Leu) c.-24T>C (n.-24T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101770101A>T | CA386302609 | GNPTAB | c.1204T>A (p.Phe402Ile) c.1123T>A (p.Phe375Ile) c.988T>A (p.Phe330Ile) c.-24T>A (n.-24T>A) | |
12 | g.101770102C>A | CA386302613 | GNPTAB | c.1203G>T (p.Lys401Asn) c.1122G>T (p.Lys374Asn) c.987G>T (p.Lys329Asn) c.-25G>T (n.-25G>T) | |
12 | g.101770102C>G | CA386302615 | GNPTAB | c.1203G>C (p.Lys401Asn) c.1122G>C (p.Lys374Asn) c.987G>C (p.Lys329Asn) c.-25G>C (n.-25G>C) | gnomAD v4 |
12 | g.101770102C>T | CA481577862 | GNPTAB | c.1203G>A (p.Lys401=) c.1122G>A (p.Lys374=) c.987G>A (p.Lys329=) c.-25G>A (n.-25G>A) | |
12 | g.101770103T>A | CA386302617 | GNPTAB | c.1202A>T (p.Lys401Met) c.1121A>T (p.Lys374Met) c.986A>T (p.Lys329Met) c.-26A>T (n.-26A>T) | |
12 | g.101770103T>C | CA386302619 | GNPTAB | c.1202A>G (p.Lys401Arg) c.1121A>G (p.Lys374Arg) c.986A>G (p.Lys329Arg) c.-26A>G (n.-26A>G) | gnomAD v4 |
12 | g.101770103T>G | CA386302620 | GNPTAB | c.1202A>C (p.Lys401Thr) c.1121A>C (p.Lys374Thr) c.986A>C (p.Lys329Thr) c.-26A>C (n.-26A>C) | |
12 | g.101770104T>A | CA386302622 | GNPTAB | c.1201A>T (p.Lys401Ter) c.1120A>T (p.Lys374Ter) c.985A>T (p.Lys329Ter) c.-27A>T (n.-27A>T) | |
12 | g.101770104T>C | CA386302623 | GNPTAB | c.1201A>G (p.Lys401Glu) c.1120A>G (p.Lys374Glu) c.985A>G (p.Lys329Glu) c.-27A>G (n.-27A>G) | |
12 | g.101770104T>G | CA386302625 | GNPTAB | c.1201A>C (p.Lys401Gln) c.1120A>C (p.Lys374Gln) c.985A>C (p.Lys329Gln) c.-27A>C (n.-27A>C) | |
12 | g.101770105C>A | CA386302626 | GNPTAB | c.1200G>T (p.Gln400His) c.1119G>T (p.Gln373His) c.984G>T (p.Gln328His) c.-28G>T (n.-28G>T) | gnomAD v4 |
12 | g.101770105C>G | CA386302628 | GNPTAB | c.1200G>C (p.Gln400His) c.1119G>C (p.Gln373His) c.984G>C (p.Gln328His) c.-28G>C (n.-28G>C) | |
12 | g.101770105C>T | CA481577863 | GNPTAB | c.1200G>A (p.Gln400=) c.1119G>A (p.Gln373=) c.984G>A (p.Gln328=) c.-28G>A (n.-28G>A) | |
12 | g.101770106T>A | CA386302630 | GNPTAB | c.1199A>T (p.Gln400Leu) c.1118A>T (p.Gln373Leu) c.983A>T (p.Gln328Leu) c.-29A>T (n.-29A>T) | |
12 | g.101770106T>C | CA386302631 | GNPTAB | c.1199A>G (p.Gln400Arg) c.1118A>G (p.Gln373Arg) c.983A>G (p.Gln328Arg) c.-29A>G (n.-29A>G) | |
12 | g.101770106T>G | CA386302633 | GNPTAB | c.1199A>C (p.Gln400Pro) c.1118A>C (p.Gln373Pro) c.983A>C (p.Gln328Pro) c.-29A>C (n.-29A>C) | gnomAD v4 |
12 | g.101770107G>A | CA386302637 | GNPTAB | c.1198C>T (p.Gln400Ter) c.1117C>T (p.Gln373Ter) c.982C>T (p.Gln328Ter) c.-30C>T (n.-30C>T) | gnomAD v4 |
12 | g.101770107G>C | CA386302636 | GNPTAB | c.1198C>G (p.Gln400Glu) c.1117C>G (p.Gln373Glu) c.982C>G (p.Gln328Glu) c.-30C>G (n.-30C>G) | |
12 | g.101770107G>T | CA386302634 | GNPTAB | c.1198C>A (p.Gln400Lys) c.1117C>A (p.Gln373Lys) c.982C>A (p.Gln328Lys) c.-30C>A (n.-30C>A) | |
12 | g.101770108G>A | CA481577864 | GNPTAB | c.1197C>T (p.Ser399=) c.1116C>T (p.Ser372=) c.981C>T (p.Ser327=) c.-31C>T (n.-31C>T) | |
12 | g.101770108G>C | CA481577865 | GNPTAB | c.1197C>G (p.Ser399=) c.1116C>G (p.Ser372=) c.981C>G (p.Ser327=) c.-31C>G (n.-31C>G) | |
12 | g.101770108G>T | CA481577866 | GNPTAB | c.1197C>A (p.Ser399=) c.1116C>A (p.Ser372=) c.981C>A (p.Ser327=) c.-31C>A (n.-31C>A) | gnomAD v4 |
12 | g.101770109G>A | CA343061 | GNPTAB | c.1196C>T (p.Ser399Phe) c.1115C>T (p.Ser372Phe) c.980C>T (p.Ser327Phe) c.-32C>T (n.-32C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770109G>C | CA386302639 | GNPTAB | c.1196C>G (p.Ser399Cys) c.1115C>G (p.Ser372Cys) c.980C>G (p.Ser327Cys) c.-32C>G (n.-32C>G) | |
12 | g.101770109G= | CA2058957870 | GNPTAB | c.1196C= (p.Ser399=) c.1115C= (p.Ser372=) c.980C= (p.Ser327=) c.-32C= (n.-32C=) | |
12 | g.101770109G>T | CA386302641 | GNPTAB | c.1196C>A (p.Ser399Tyr) c.1115C>A (p.Ser372Tyr) c.980C>A (p.Ser327Tyr) c.-32C>A (n.-32C>A) | |
12 | g.101770110A= | CA2058957871 | GNPTAB | c.1195T= (p.Ser399=) c.1114T= (p.Ser372=) c.979T= (p.Ser327=) c.-33T= (n.-33T=) | |
12 | g.101770110A>C | CA386302642 | GNPTAB | c.1195T>G (p.Ser399Ala) c.1114T>G (p.Ser372Ala) c.979T>G (p.Ser327Ala) c.-33T>G (n.-33T>G) | |
12 | g.101770110A>G | CA6746684 | GNPTAB | c.1195T>C (p.Ser399Pro) c.1114T>C (p.Ser372Pro) c.979T>C (p.Ser327Pro) c.-33T>C (n.-33T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101770110A>T | CA386302645 | GNPTAB | c.1195T>A (p.Ser399Thr) c.1114T>A (p.Ser372Thr) c.979T>A (p.Ser327Thr) c.-33T>A (n.-33T>A) | |
12 | g.101770111C>A | CA481577867 | GNPTAB | c.1194G>T (p.Leu398=) c.1113G>T (p.Leu371=) c.978G>T (p.Leu326=) c.-34G>T (n.-34G>T) | gnomAD v4 |
12 | g.101770111C>G | CA481577868 | GNPTAB | c.1194G>C (p.Leu398=) c.1113G>C (p.Leu371=) c.978G>C (p.Leu326=) c.-34G>C (n.-34G>C) | |
12 | g.101770111C>T | CA481577869 | GNPTAB | c.1194G>A (p.Leu398=) c.1113G>A (p.Leu371=) c.978G>A (p.Leu326=) c.-34G>A (n.-34G>A) | |
12 | g.101770112_101770115dup | CA343338 | GNPTAB | c.1191_1194dup (p.Ser399AlafsTer10) c.1110_1113dup (p.Ser372AlafsTer10) c.975_978dup (p.Ser327AlafsTer10) c.-37_-34dup (n.-37_-34dup) | ClinVar dbSNP gnomAD v4 |
12 | g.101770112A= | CA2058957872 | GNPTAB | c.1193T= (p.Leu398=) c.1112T= (p.Leu371=) c.977T= (p.Leu326=) c.-35T= (n.-35T=) | |
12 | g.101770112A>C | CA386302648 | GNPTAB | c.1193T>G (p.Leu398Arg) c.1112T>G (p.Leu371Arg) c.977T>G (p.Leu326Arg) c.-35T>G (n.-35T>G) | |
12 | g.101770112A>G | CA386302650 | GNPTAB | c.1193T>C (p.Leu398Pro) c.1112T>C (p.Leu371Pro) c.977T>C (p.Leu326Pro) c.-35T>C (n.-35T>C) | |
12 | g.101770112A>T | CA386302651 | GNPTAB | c.1193T>A (p.Leu398Gln) c.1112T>A (p.Leu371Gln) c.977T>A (p.Leu326Gln) c.-35T>A (n.-35T>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770113G>A | CA6746685 | GNPTAB | c.1192C>T (p.Leu398=) c.1111C>T (p.Leu371=) c.976C>T (p.Leu326=) c.-36C>T (n.-36C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770113G>C | CA386302653 | GNPTAB | c.1192C>G (p.Leu398Val) c.1111C>G (p.Leu371Val) c.976C>G (p.Leu326Val) c.-36C>G (n.-36C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770113G= | CA2058957873 | GNPTAB | c.1192C= (p.Leu398=) c.1111C= (p.Leu371=) c.976C= (p.Leu326=) c.-36C= (n.-36C=) | |
12 | g.101770113G>T | CA386302654 | GNPTAB | c.1192C>A (p.Leu398Met) c.1111C>A (p.Leu371Met) c.976C>A (p.Leu326Met) c.-36C>A (n.-36C>A) | |
12 | g.101770113_101770114delinsGC | CA2058957874 | GNPTAB | c.1191_1192delinsGC (p.Gly397=) c.1110_1111delinsGC (p.Gly370=) c.975_976delinsGC (p.Gly325=) c.-37_-36delinsGC (n.-37_-36delinsGC) | |
12 | g.101770114C>A | CA481577870 | GNPTAB | c.1191G>T (p.Gly397=) c.1110G>T (p.Gly370=) c.975G>T (p.Gly325=) c.-37G>T (n.-37G>T) | |
12 | g.101770114C>G | CA481577871 | GNPTAB | c.1191G>C (p.Gly397=) c.1110G>C (p.Gly370=) c.975G>C (p.Gly325=) c.-37G>C (n.-37G>C) | |
12 | g.101770114C>T | CA481577872 | GNPTAB | c.1191G>A (p.Gly397=) c.1110G>A (p.Gly370=) c.975G>A (p.Gly325=) c.-37G>A (n.-37G>A) | ClinVar |
12 | g.101770116del | CA607597855 | GNPTAB | c.1191del (p.Leu398CysfsTer8) c.1110del (p.Leu371CysfsTer8) c.975del (p.Leu326CysfsTer8) c.-37del (n.-37del) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770115C>A | CA386302657 | GNPTAB | c.1190G>T (p.Gly397Val) c.1109G>T (p.Gly370Val) c.974G>T (p.Gly325Val) c.-38G>T (n.-38G>T) | |
12 | g.101770115C>G | CA386302658 | GNPTAB | c.1190G>C (p.Gly397Ala) c.1109G>C (p.Gly370Ala) c.974G>C (p.Gly325Ala) c.-38G>C (n.-38G>C) | |
12 | g.101770115C>T | CA386302655 | GNPTAB | c.1190G>A (p.Gly397Glu) c.1109G>A (p.Gly370Glu) c.974G>A (p.Gly325Glu) c.-38G>A (n.-38G>A) | gnomAD v4 |
12 | g.101770116C>A | CA386302660 | GNPTAB | c.1189G>T (p.Gly397Trp) c.1108G>T (p.Gly370Trp) c.973G>T (p.Gly325Trp) c.-39G>T (n.-39G>T) | |
12 | g.101770116C>G | CA386302662 | GNPTAB | c.1189G>C (p.Gly397Arg) c.1108G>C (p.Gly370Arg) c.973G>C (p.Gly325Arg) c.-39G>C (n.-39G>C) | |
12 | g.101770116C>T | CA386302663 | GNPTAB | c.1189G>A (p.Gly397Arg) c.1108G>A (p.Gly370Arg) c.973G>A (p.Gly325Arg) c.-39G>A (n.-39G>A) | |
12 | g.101770117T>A | CA386302664 | GNPTAB | c.1188A>T (p.Glu396Asp) c.1107A>T (p.Glu369Asp) c.972A>T (p.Glu324Asp) c.-40A>T (n.-40A>T) | |
12 | g.101770117T>C | CA481577873 | GNPTAB | c.1188A>G (p.Glu396=) c.1107A>G (p.Glu369=) c.972A>G (p.Glu324=) c.-40A>G (n.-40A>G) | ClinVar gnomAD v4 |
12 | g.101770117T>G | CA386302665 | GNPTAB | c.1188A>C (p.Glu396Asp) c.1107A>C (p.Glu369Asp) c.972A>C (p.Glu324Asp) c.-40A>C (n.-40A>C) | |
12 | g.101770118T>A | CA386302671 | GNPTAB | c.1187A>T (p.Glu396Val) c.1106A>T (p.Glu369Val) c.971A>T (p.Glu324Val) c.-41A>T (n.-41A>T) | |
12 | g.101770118T>C | CA386302669 | GNPTAB | c.1187A>G (p.Glu396Gly) c.1106A>G (p.Glu369Gly) c.971A>G (p.Glu324Gly) c.-41A>G (n.-41A>G) | |
12 | g.101770118T>G | CA386302667 | GNPTAB | c.1187A>C (p.Glu396Ala) c.1106A>C (p.Glu369Ala) c.971A>C (p.Glu324Ala) c.-41A>C (n.-41A>C) | |
12 | g.101770119C>A | CA386302672 | GNPTAB | c.1186G>T (p.Glu396Ter) c.1105G>T (p.Glu369Ter) c.970G>T (p.Glu324Ter) c.-42G>T (n.-42G>T) | ClinVar dbSNP |
12 | g.101770119C= | CA2058957875 | GNPTAB | c.1186G= (p.Glu396=) c.1105G= (p.Glu369=) c.970G= (p.Glu324=) c.-42G= (n.-42G=) | |
12 | g.101770119C>G | CA386302673 | GNPTAB | c.1186G>C (p.Glu396Gln) c.1105G>C (p.Glu369Gln) c.970G>C (p.Glu324Gln) c.-42G>C (n.-42G>C) | |
12 | g.101770119C>T | CA386302675 | GNPTAB | c.1186G>A (p.Glu396Lys) c.1105G>A (p.Glu369Lys) c.970G>A (p.Glu324Lys) c.-42G>A (n.-42G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.101770120G>A | CA6746686 | GNPTAB | c.1185C>T (p.Ile395=) c.1104C>T (p.Ile368=) c.969C>T (p.Ile323=) c.-43C>T (n.-43C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770120G>C | CA386302677 | GNPTAB | c.1185C>G (p.Ile395Met) c.1104C>G (p.Ile368Met) c.969C>G (p.Ile323Met) c.-43C>G (n.-43C>G) | ClinVar dbSNP gnomAD v4 |
12 | g.101770120G= | CA2058957876 | GNPTAB | c.1185C= (p.Ile395=) c.1104C= (p.Ile368=) c.969C= (p.Ile323=) c.-43C= (n.-43C=) | |
12 | g.101770120G>T | CA242462291 | GNPTAB | c.1185C>A (p.Ile395=) c.1104C>A (p.Ile368=) c.969C>A (p.Ile323=) c.-43C>A (n.-43C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770121A= | CA2058957877 | GNPTAB | c.1184T= (p.Ile395=) c.1103T= (p.Ile368=) c.968T= (p.Ile323=) c.-44T= (n.-44T=) | |
12 | g.101770121A>C | CA386302679 | GNPTAB | c.1184T>G (p.Ile395Ser) c.1103T>G (p.Ile368Ser) c.968T>G (p.Ile323Ser) c.-44T>G (n.-44T>G) | dbSNP gnomAD v4 |
12 | g.101770121A>G | CA386302682 | GNPTAB | c.1184T>C (p.Ile395Thr) c.1103T>C (p.Ile368Thr) c.968T>C (p.Ile323Thr) c.-44T>C (n.-44T>C) | |
12 | g.101770121A>T | CA386302681 | GNPTAB | c.1184T>A (p.Ile395Asn) c.1103T>A (p.Ile368Asn) c.968T>A (p.Ile323Asn) c.-44T>A (n.-44T>A) | |
12 | g.101770122T>A | CA386302684 | GNPTAB | c.1183A>T (p.Ile395Phe) c.1102A>T (p.Ile368Phe) c.967A>T (p.Ile323Phe) c.-45A>T (n.-45A>T) | |
12 | g.101770122T>C | CA386302685 | GNPTAB | c.1183A>G (p.Ile395Val) c.1102A>G (p.Ile368Val) c.967A>G (p.Ile323Val) c.-45A>G (n.-45A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770122T>G | CA386302686 | GNPTAB | c.1183A>C (p.Ile395Leu) c.1102A>C (p.Ile368Leu) c.967A>C (p.Ile323Leu) c.-45A>C (n.-45A>C) | |
12 | g.101770122T= | CA2058957878 | GNPTAB | c.1183A= (p.Ile395=) c.1102A= (p.Ile368=) c.967A= (p.Ile323=) c.-45A= (n.-45A=) | |
12 | g.101770123G>A | CA481577874 | GNPTAB | c.1182C>T (p.Arg394=) c.1101C>T (p.Arg367=) c.966C>T (p.Arg322=) c.-46C>T (n.-46C>T) | ClinVar dbSNP gnomAD v4 |
12 | g.101770123G>C | CA481577875 | GNPTAB | c.1182C>G (p.Arg394=) c.1101C>G (p.Arg367=) c.966C>G (p.Arg322=) c.-46C>G (n.-46C>G) | |
12 | g.101770123G>T | CA481577876 | GNPTAB | c.1182C>A (p.Arg394=) c.1101C>A (p.Arg367=) c.966C>A (p.Arg322=) c.-46C>A (n.-46C>A) | |
12 | g.101770124C>A | CA242462312 | GNPTAB | c.1181G>T (p.Arg394Leu) c.1100G>T (p.Arg367Leu) c.965G>T (p.Arg322Leu) c.-47G>T (n.-47G>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770124C= | CA2058957879 | GNPTAB | c.1181G= (p.Arg394=) c.1100G= (p.Arg367=) c.965G= (p.Arg322=) c.-47G= (n.-47G=) | |
12 | g.101770124C>G | CA386302688 | GNPTAB | c.1181G>C (p.Arg394Pro) c.1100G>C (p.Arg367Pro) c.965G>C (p.Arg322Pro) c.-47G>C (n.-47G>C) | |
12 | g.101770124C>T | CA6746687 | GNPTAB | c.1181G>A (p.Arg394His) c.1100G>A (p.Arg367His) c.965G>A (p.Arg322His) c.-47G>A (n.-47G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101770125del | CA2620451507 | GNPTAB | c.1180del (p.Arg394AlafsTer12) c.1099del (p.Arg367AlafsTer12) c.964del (p.Arg322AlafsTer12) c.-48del (n.-48del) | gnomAD v4 |
12 | g.101770125G>A | CA386302690 | GNPTAB | c.1180C>T (p.Arg394Cys) c.1099C>T (p.Arg367Cys) c.964C>T (p.Arg322Cys) c.-48C>T (n.-48C>T) | dbSNP gnomAD v4 |
12 | g.101770125G>C | CA386302692 | GNPTAB | c.1180C>G (p.Arg394Gly) c.1099C>G (p.Arg367Gly) c.964C>G (p.Arg322Gly) c.-48C>G (n.-48C>G) | |
12 | g.101770125G= | CA2058957880 | GNPTAB | c.1180C= (p.Arg394=) c.1099C= (p.Arg367=) c.964C= (p.Arg322=) c.-48C= (n.-48C=) | |
12 | g.101770125G>T | CA386302693 | GNPTAB | c.1180C>A (p.Arg394Ser) c.1099C>A (p.Arg367Ser) c.964C>A (p.Arg322Ser) c.-48C>A (n.-48C>A) | gnomAD v4 |
12 | g.101770126A>C | CA386302695 | GNPTAB | c.1179T>G (p.His393Gln) c.1098T>G (p.His366Gln) c.963T>G (p.His321Gln) c.-49T>G (n.-49T>G) | |
12 | g.101770126A>G | CA481577877 | GNPTAB | c.1179T>C (p.His393=) c.1098T>C (p.His366=) c.963T>C (p.His321=) c.-49T>C (n.-49T>C) | |
12 | g.101770126A>T | CA386302696 | GNPTAB | c.1179T>A (p.His393Gln) c.1098T>A (p.His366Gln) c.963T>A (p.His321Gln) c.-49T>A (n.-49T>A) | |
12 | g.101770129_101770132del | CA2620451510 | GNPTAB | c.1176_1179del (p.His393AlafsTer12) c.1095_1098del (p.His366AlafsTer12) c.960_963del (p.His321AlafsTer12) c.-52_-49del (n.-52_-49del) | gnomAD v4 |
12 | g.101770127T>A | CA386302701 | GNPTAB | c.1178A>T (p.His393Leu) c.1097A>T (p.His366Leu) c.962A>T (p.His321Leu) c.-50A>T (n.-50A>T) | |
12 | g.101770127T>C | CA386302703 | GNPTAB | c.1178A>G (p.His393Arg) c.1097A>G (p.His366Arg) c.962A>G (p.His321Arg) c.-50A>G (n.-50A>G) | |
12 | g.101770127T>G | CA386302699 | GNPTAB | c.1178A>C (p.His393Pro) c.1097A>C (p.His366Pro) c.962A>C (p.His321Pro) c.-50A>C (n.-50A>C) | |
12 | g.101770128G>A | CA386302706 | GNPTAB | c.1177C>T (p.His393Tyr) c.1096C>T (p.His366Tyr) c.961C>T (p.His321Tyr) c.-51C>T (n.-51C>T) | dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.101770128G>C | CA6746688 | GNPTAB | c.1177C>G (p.His393Asp) c.1096C>G (p.His366Asp) c.961C>G (p.His321Asp) c.-51C>G (n.-51C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770128G= | CA2058957881 | GNPTAB | c.1177C= (p.His393=) c.1096C= (p.His366=) c.961C= (p.His321=) c.-51C= (n.-51C=) | |
12 | g.101770128G>T | CA386302707 | GNPTAB | c.1177C>A (p.His393Asn) c.1096C>A (p.His366Asn) c.961C>A (p.His321Asn) c.-51C>A (n.-51C>A) | gnomAD v4 |
12 | g.101770129A>C | CA386302708 | GNPTAB | c.1176T>G (p.Ile392Met) c.1095T>G (p.Ile365Met) c.960T>G (p.Ile320Met) c.-52T>G (n.-52T>G) | |
12 | g.101770129A>G | CA481577878 | GNPTAB | c.1176T>C (p.Ile392=) c.1095T>C (p.Ile365=) c.960T>C (p.Ile320=) c.-52T>C (n.-52T>C) | |
12 | g.101770129A>T | CA481577879 | GNPTAB | c.1176T>A (p.Ile392=) c.1095T>A (p.Ile365=) c.960T>A (p.Ile320=) c.-52T>A (n.-52T>A) | |
12 | g.101770130A>C | CA386302711 | GNPTAB | c.1175T>G (p.Ile392Ser) c.1094T>G (p.Ile365Ser) c.959T>G (p.Ile320Ser) c.-53T>G (n.-53T>G) | |
12 | g.101770130A>G | CA386302709 | GNPTAB | c.1175T>C (p.Ile392Thr) c.1094T>C (p.Ile365Thr) c.959T>C (p.Ile320Thr) c.-53T>C (n.-53T>C) | |
12 | g.101770130A>T | CA386302712 | GNPTAB | c.1175T>A (p.Ile392Asn) c.1094T>A (p.Ile365Asn) c.959T>A (p.Ile320Asn) c.-53T>A (n.-53T>A) | |
12 | g.101770131T>A | CA386302713 | GNPTAB | c.1174A>T (p.Ile392Phe) c.1093A>T (p.Ile365Phe) c.958A>T (p.Ile320Phe) c.-54A>T (n.-54A>T) | |
12 | g.101770131T>C | CA386302716 | GNPTAB | c.1174A>G (p.Ile392Val) c.1093A>G (p.Ile365Val) c.958A>G (p.Ile320Val) c.-54A>G (n.-54A>G) | |
12 | g.101770131T>G | CA386302715 | GNPTAB | c.1174A>C (p.Ile392Leu) c.1093A>C (p.Ile365Leu) c.958A>C (p.Ile320Leu) c.-54A>C (n.-54A>C) | |
12 | g.101770132G>A | CA242462329 | GNPTAB | c.1173C>T (p.His391=) c.1092C>T (p.His364=) c.957C>T (p.His319=) c.-55C>T (n.-55C>T) | ClinVar dbSNP gnomAD v4 |
12 | g.101770132G>C | CA386302719 | GNPTAB | c.1173C>G (p.His391Gln) c.1092C>G (p.His364Gln) c.957C>G (p.His319Gln) c.-55C>G (n.-55C>G) | |
12 | g.101770132G= | CA2058957882 | GNPTAB | c.1173C= (p.His391=) c.1092C= (p.His364=) c.957C= (p.His319=) c.-55C= (n.-55C=) | |
12 | g.101770132G>T | CA6746689 | GNPTAB | c.1173C>A (p.His391Gln) c.1092C>A (p.His364Gln) c.957C>A (p.His319Gln) c.-55C>A (n.-55C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770133T>A | CA386302721 | GNPTAB | c.1172A>T (p.His391Leu) c.1091A>T (p.His364Leu) c.956A>T (p.His319Leu) c.-56A>T (n.-56A>T) | |
12 | g.101770133T>C | CA386302722 | GNPTAB | c.1172A>G (p.His391Arg) c.1091A>G (p.His364Arg) c.956A>G (p.His319Arg) c.-56A>G (n.-56A>G) | |
12 | g.101770133T>G | CA386302724 | GNPTAB | c.1172A>C (p.His391Pro) c.1091A>C (p.His364Pro) c.956A>C (p.His319Pro) c.-56A>C (n.-56A>C) | |
12 | g.101770134G>A | CA386302725 | GNPTAB | c.1171C>T (p.His391Tyr) c.1090C>T (p.His364Tyr) c.955C>T (p.His319Tyr) c.-57C>T (n.-57C>T) | gnomAD v4 COSMIC |
12 | g.101770134G>C | CA386302726 | GNPTAB | c.1171C>G (p.His391Asp) c.1090C>G (p.His364Asp) c.955C>G (p.His319Asp) c.-57C>G (n.-57C>G) | |
12 | g.101770134G>T | CA386302727 | GNPTAB | c.1171C>A (p.His391Asn) c.1090C>A (p.His364Asn) c.955C>A (p.His319Asn) c.-57C>A (n.-57C>A) | |
12 | g.101770135A>C | CA386302729 | GNPTAB | c.1170T>G (p.Ser390Arg) c.1089T>G (p.Ser363Arg) c.954T>G (p.Ser318Arg) c.-58T>G (n.-58T>G) | |
12 | g.101770135A>G | CA481577880 | GNPTAB | c.1170T>C (p.Ser390=) c.1089T>C (p.Ser363=) c.954T>C (p.Ser318=) c.-58T>C (n.-58T>C) | |
12 | g.101770135A>T | CA386302730 | GNPTAB | c.1170T>A (p.Ser390Arg) c.1089T>A (p.Ser363Arg) c.954T>A (p.Ser318Arg) c.-58T>A (n.-58T>A) | |
12 | g.101770136C>A | CA386302735 | GNPTAB | c.1169G>T (p.Ser390Ile) c.1088G>T (p.Ser363Ile) c.953G>T (p.Ser318Ile) c.-59G>T (n.-59G>T) | |
12 | g.101770136C>G | CA386302733 | GNPTAB | c.1169G>C (p.Ser390Thr) c.1088G>C (p.Ser363Thr) c.953G>C (p.Ser318Thr) c.-59G>C (n.-59G>C) | |
12 | g.101770136C>T | CA386302732 | GNPTAB | c.1169G>A (p.Ser390Asn) c.1088G>A (p.Ser363Asn) c.953G>A (p.Ser318Asn) c.-59G>A (n.-59G>A) | |
12 | g.101770137T>A | CA386302736 | GNPTAB | c.1168A>T (p.Ser390Cys) c.1087A>T (p.Ser363Cys) c.952A>T (p.Ser318Cys) c.-60A>T (n.-60A>T) | |
12 | g.101770137T>C | CA242462336 | GNPTAB | c.1168A>G (p.Ser390Gly) c.1087A>G (p.Ser363Gly) c.952A>G (p.Ser318Gly) c.-60A>G (n.-60A>G) | dbSNP |
12 | g.101770137T>G | CA386302738 | GNPTAB | c.1168A>C (p.Ser390Arg) c.1087A>C (p.Ser363Arg) c.952A>C (p.Ser318Arg) c.-60A>C (n.-60A>C) | |
12 | g.101770137T= | CA2058957883 | GNPTAB | c.1168A= (p.Ser390=) c.1087A= (p.Ser363=) c.952A= (p.Ser318=) c.-60A= (n.-60A=) | |
12 | g.101770138T>A | CA386302740 | GNPTAB | c.1167A>T (p.Glu389Asp) c.1086A>T (p.Glu362Asp) c.951A>T (p.Glu317Asp) c.-61A>T (n.-61A>T) | |
12 | g.101770138T>C | CA481577881 | GNPTAB | c.1167A>G (p.Glu389=) c.1086A>G (p.Glu362=) c.951A>G (p.Glu317=) c.-61A>G (n.-61A>G) | |
12 | g.101770138T>G | CA386302742 | GNPTAB | c.1167A>C (p.Glu389Asp) c.1086A>C (p.Glu362Asp) c.951A>C (p.Glu317Asp) c.-61A>C (n.-61A>C) | |
12 | g.101770139T>A | CA386302744 | GNPTAB | c.1166A>T (p.Glu389Val) c.1085A>T (p.Glu362Val) c.950A>T (p.Glu317Val) c.-62A>T (n.-62A>T) | |
12 | g.101770139T>C | CA386302745 | GNPTAB | c.1166A>G (p.Glu389Gly) c.1085A>G (p.Glu362Gly) c.950A>G (p.Glu317Gly) c.-62A>G (n.-62A>G) | |
12 | g.101770139T>G | CA386302746 | GNPTAB | c.1166A>C (p.Glu389Ala) c.1085A>C (p.Glu362Ala) c.950A>C (p.Glu317Ala) c.-62A>C (n.-62A>C) | |
12 | g.101770140C>A | CA386302748 | GNPTAB | c.1165G>T (p.Glu389Ter) c.1084G>T (p.Glu362Ter) c.949G>T (p.Glu317Ter) c.-63G>T (n.-63G>T) | |
12 | g.101770140C>G | CA386302750 | GNPTAB | c.1165G>C (p.Glu389Gln) c.1084G>C (p.Glu362Gln) c.949G>C (p.Glu317Gln) c.-63G>C (n.-63G>C) | |
12 | g.101770140C>T | CA386302751 | GNPTAB | c.1165G>A (p.Glu389Lys) c.1084G>A (p.Glu362Lys) c.949G>A (p.Glu317Lys) c.-63G>A (n.-63G>A) | |
12 | g.101770141A>C | CA386302753 | GNPTAB | c.1164T>G (p.Ile388Met) c.1083T>G (p.Ile361Met) c.948T>G (p.Ile316Met) c.-64T>G (n.-64T>G) | |
12 | g.101770141A>G | CA481577883 | GNPTAB | c.1164T>C (p.Ile388=) c.1083T>C (p.Ile361=) c.948T>C (p.Ile316=) c.-64T>C (n.-64T>C) | ClinVar dbSNP |
12 | g.101770141A>T | CA481577882 | GNPTAB | c.1164T>A (p.Ile388=) c.1083T>A (p.Ile361=) c.948T>A (p.Ile316=) c.-64T>A (n.-64T>A) | |
12 | g.101770142A>C | CA386302758 | GNPTAB | c.1163T>G (p.Ile388Ser) c.1082T>G (p.Ile361Ser) c.947T>G (p.Ile316Ser) c.-65T>G (n.-65T>G) | |
12 | g.101770142A>G | CA386302756 | GNPTAB | c.1163T>C (p.Ile388Thr) c.1082T>C (p.Ile361Thr) c.947T>C (p.Ile316Thr) c.-65T>C (n.-65T>C) | |
12 | g.101770142A>T | CA386302755 | GNPTAB | c.1163T>A (p.Ile388Asn) c.1082T>A (p.Ile361Asn) c.947T>A (p.Ile316Asn) c.-65T>A (n.-65T>A) | |
12 | g.101770143T>A | CA386302759 | GNPTAB | c.1162A>T (p.Ile388Phe) c.1081A>T (p.Ile361Phe) c.946A>T (p.Ile316Phe) c.-66A>T (n.-66A>T) | |
12 | g.101770143T>C | CA386302761 | GNPTAB | c.1162A>G (p.Ile388Val) c.1081A>G (p.Ile361Val) c.946A>G (p.Ile316Val) c.-66A>G (n.-66A>G) | dbSNP gnomAD v4 |
12 | g.101770143T>G | CA386302763 | GNPTAB | c.1162A>C (p.Ile388Leu) c.1081A>C (p.Ile361Leu) c.946A>C (p.Ile316Leu) c.-66A>C (n.-66A>C) | |
12 | g.101770143T= | CA2058957884 | GNPTAB | c.1162A= (p.Ile388=) c.1081A= (p.Ile361=) c.946A= (p.Ile316=) c.-66A= (n.-66A=) | |
12 | g.101770144A= | CA2058957885 | GNPTAB | c.1161T= (p.Ala387=) c.1080T= (p.Ala360=) c.945T= (p.Ala315=) c.-67T= (n.-67T=) | |
12 | g.101770144A>C | CA481577886 | GNPTAB | c.1161T>G (p.Ala387=) c.1080T>G (p.Ala360=) c.945T>G (p.Ala315=) c.-67T>G (n.-67T>G) | |
12 | g.101770144A>G | CA481577884 | GNPTAB | c.1161T>C (p.Ala387=) c.1080T>C (p.Ala360=) c.945T>C (p.Ala315=) c.-67T>C (n.-67T>C) | ClinVar dbSNP |
12 | g.101770144A>T | CA481577885 | GNPTAB | c.1161T>A (p.Ala387=) c.1080T>A (p.Ala360=) c.945T>A (p.Ala315=) c.-67T>A (n.-67T>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770145G>A | CA386302764 | GNPTAB | c.1160C>T (p.Ala387Val) c.1079C>T (p.Ala360Val) c.944C>T (p.Ala315Val) c.-68C>T (n.-68C>T) | |
12 | g.101770145G>C | CA386302765 | GNPTAB | c.1160C>G (p.Ala387Gly) c.1079C>G (p.Ala360Gly) c.944C>G (p.Ala315Gly) c.-68C>G (n.-68C>G) | |
12 | g.101770145G>T | CA386302766 | GNPTAB | c.1160C>A (p.Ala387Asp) c.1079C>A (p.Ala360Asp) c.944C>A (p.Ala315Asp) c.-68C>A (n.-68C>A) | |
12 | g.101770146C>A | CA386302767 | GNPTAB | c.1159G>T (p.Ala387Ser) c.1078G>T (p.Ala360Ser) c.943G>T (p.Ala315Ser) c.-69G>T (n.-69G>T) | |
12 | g.101770146C>G | CA386302768 | GNPTAB | c.1159G>C (p.Ala387Pro) c.1078G>C (p.Ala360Pro) c.943G>C (p.Ala315Pro) c.-69G>C (n.-69G>C) | |
12 | g.101770146C>T | CA386302769 | GNPTAB | c.1159G>A (p.Ala387Thr) c.1078G>A (p.Ala360Thr) c.943G>A (p.Ala315Thr) c.-69G>A (n.-69G>A) | |
12 | g.101770147A= | CA2058957886 | GNPTAB | c.1158T= (p.Pro386=) c.1077T= (p.Pro359=) c.942T= (p.Pro314=) c.-70T= (n.-70T=) | |
12 | g.101770147A>C | CA481577887 | GNPTAB | c.1158T>G (p.Pro386=) c.1077T>G (p.Pro359=) c.942T>G (p.Pro314=) c.-70T>G (n.-70T>G) | COSMIC COSMIC |
12 | g.101770147A>G | CA481577889 | GNPTAB | c.1158T>C (p.Pro386=) c.1077T>C (p.Pro359=) c.942T>C (p.Pro314=) c.-70T>C (n.-70T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770147A>T | CA481577888 | GNPTAB | c.1158T>A (p.Pro386=) c.1077T>A (p.Pro359=) c.942T>A (p.Pro314=) c.-70T>A (n.-70T>A) | |
12 | g.101770148G>A | CA386302771 | GNPTAB | c.1157C>T (p.Pro386Leu) c.1076C>T (p.Pro359Leu) c.941C>T (p.Pro314Leu) c.-71C>T (n.-71C>T) | |
12 | g.101770148G>C | CA386302772 | GNPTAB | c.1157C>G (p.Pro386Arg) c.1076C>G (p.Pro359Arg) c.941C>G (p.Pro314Arg) c.-71C>G (n.-71C>G) | |
12 | g.101770148G>T | CA386302773 | GNPTAB | c.1157C>A (p.Pro386His) c.1076C>A (p.Pro359His) c.941C>A (p.Pro314His) c.-71C>A (n.-71C>A) | |
12 | g.101770149G>A | CA386302776 | GNPTAB | c.1156C>T (p.Pro386Ser) c.1075C>T (p.Pro359Ser) c.940C>T (p.Pro314Ser) c.-72C>T (n.-72C>T) | |
12 | g.101770149G>C | CA386302775 | GNPTAB | c.1156C>G (p.Pro386Ala) c.1075C>G (p.Pro359Ala) c.940C>G (p.Pro314Ala) c.-72C>G (n.-72C>G) | |
12 | g.101770149G>T | CA386302774 | GNPTAB | c.1156C>A (p.Pro386Thr) c.1075C>A (p.Pro359Thr) c.940C>A (p.Pro314Thr) c.-72C>A (n.-72C>A) | |
12 | g.101770150T>A | CA481577890 | GNPTAB | c.1155A>T (p.Ser385=) c.1074A>T (p.Ser358=) c.939A>T (p.Ser313=) c.-73A>T (n.-73A>T) | |
12 | g.101770150T>C | CA481577891 | GNPTAB | c.1155A>G (p.Ser385=) c.1074A>G (p.Ser358=) c.939A>G (p.Ser313=) c.-73A>G (n.-73A>G) | |
12 | g.101770150T>G | CA6746690 | GNPTAB | c.1155A>C (p.Ser385=) c.1074A>C (p.Ser358=) c.939A>C (p.Ser313=) c.-73A>C (n.-73A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770150T= | CA2058957887 | GNPTAB | c.1155A= (p.Ser385=) c.1074A= (p.Ser358=) c.939A= (p.Ser313=) c.-73A= (n.-73A=) | |
12 | g.101770151G>A | CA386302778 | GNPTAB | c.1154C>T (p.Ser385Leu) c.1073C>T (p.Ser358Leu) c.938C>T (p.Ser313Leu) c.-74C>T (n.-74C>T) | |
12 | g.101770151G>C | CA386302779 | GNPTAB | c.1154C>G (p.Ser385Ter) c.1073C>G (p.Ser358Ter) c.938C>G (p.Ser313Ter) c.-74C>G (n.-74C>G) | gnomAD v4 |
12 | g.101770151G>T | CA386302781 | GNPTAB | c.1154C>A (p.Ser385Ter) c.1073C>A (p.Ser358Ter) c.938C>A (p.Ser313Ter) c.-74C>A (n.-74C>A) | ClinVar |
12 | g.101770152A>C | CA386302783 | GNPTAB | c.1153T>G (p.Ser385Ala) c.1072T>G (p.Ser358Ala) c.937T>G (p.Ser313Ala) c.-75T>G (n.-75T>G) | |
12 | g.101770152A>G | CA386302784 | GNPTAB | c.1153T>C (p.Ser385Pro) c.1072T>C (p.Ser358Pro) c.937T>C (p.Ser313Pro) c.-75T>C (n.-75T>C) | |
12 | g.101770152A>T | CA386302786 | GNPTAB | c.1153T>A (p.Ser385Thr) c.1072T>A (p.Ser358Thr) c.937T>A (p.Ser313Thr) c.-75T>A (n.-75T>A) | |
12 | g.101770153A>C | CA386302787 | GNPTAB | c.1152T>G (p.Ser384Arg) c.1071T>G (p.Ser357Arg) c.936T>G (p.Ser312Arg) c.-76T>G (n.-76T>G) | |
12 | g.101770153A>G | CA481577892 | GNPTAB | c.1152T>C (p.Ser384=) c.1071T>C (p.Ser357=) c.936T>C (p.Ser312=) c.-76T>C (n.-76T>C) | |
12 | g.101770153A>T | CA386302788 | GNPTAB | c.1152T>A (p.Ser384Arg) c.1071T>A (p.Ser357Arg) c.936T>A (p.Ser312Arg) c.-76T>A (n.-76T>A) | |
12 | g.101770154del | CA2620451599 | GNPTAB | c.1151del (p.Ser384IlefsTer22) c.1070del (p.Ser357IlefsTer22) c.935del (p.Ser312IlefsTer22) c.-77del (n.-77del) | gnomAD v4 |
12 | g.101770154C>A | CA386302789 | GNPTAB | c.1151G>T (p.Ser384Ile) c.1070G>T (p.Ser357Ile) c.935G>T (p.Ser312Ile) c.-77G>T (n.-77G>T) | |
12 | g.101770154C= | CA2058957888 | GNPTAB | c.1151G= (p.Ser384=) c.1070G= (p.Ser357=) c.935G= (p.Ser312=) c.-77G= (n.-77G=) | |
12 | g.101770154C>G | CA386302791 | GNPTAB | c.1151G>C (p.Ser384Thr) c.1070G>C (p.Ser357Thr) c.935G>C (p.Ser312Thr) c.-77G>C (n.-77G>C) | |
12 | g.101770154C>T | CA386302792 | GNPTAB | c.1151G>A (p.Ser384Asn) c.1070G>A (p.Ser357Asn) c.935G>A (p.Ser312Asn) c.-77G>A (n.-77G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770155T>A | CA386302797 | GNPTAB | c.1150A>T (p.Ser384Cys) c.1069A>T (p.Ser357Cys) c.934A>T (p.Ser312Cys) c.-78A>T (n.-78A>T) | |
12 | g.101770155T>C | CA386302795 | GNPTAB | c.1150A>G (p.Ser384Gly) c.1069A>G (p.Ser357Gly) c.934A>G (p.Ser312Gly) c.-78A>G (n.-78A>G) | gnomAD v4 |
12 | g.101770155T>G | CA386302794 | GNPTAB | c.1150A>C (p.Ser384Arg) c.1069A>C (p.Ser357Arg) c.934A>C (p.Ser312Arg) c.-78A>C (n.-78A>C) | |
12 | g.101770155_101770157dup | CA2695217211 | GNPTAB | c.1148_1150dup (p.Phe383_Ser384insIle) c.1067_1069dup (p.Phe356_Ser357insIle) c.932_934dup (p.Phe311_Ser312insIle) c.-80_-78dup (n.-80_-78dup) | |
12 | g.101770155_101770158dup | CA2620451609 | GNPTAB | c.1147_1150dup (p.Ser384IlefsTer2) c.1066_1069dup (p.Ser357IlefsTer2) c.931_934dup (p.Ser312IlefsTer2) c.-81_-78dup (n.-81_-78dup) | gnomAD v4 |
12 | g.101770156A>C | CA386302798 | GNPTAB | c.1149T>G (p.Phe383Leu) c.1068T>G (p.Phe356Leu) c.933T>G (p.Phe311Leu) c.-79T>G (n.-79T>G) | |
12 | g.101770156A>G | CA481577893 | GNPTAB | c.1149T>C (p.Phe383=) c.1068T>C (p.Phe356=) c.933T>C (p.Phe311=) c.-79T>C (n.-79T>C) | ClinVar |
12 | g.101770156A>T | CA386302800 | GNPTAB | c.1149T>A (p.Phe383Leu) c.1068T>A (p.Phe356Leu) c.933T>A (p.Phe311Leu) c.-79T>A (n.-79T>A) | |
12 | g.101770157A>C | CA386302801 | GNPTAB | c.1148T>G (p.Phe383Cys) c.1067T>G (p.Phe356Cys) c.932T>G (p.Phe311Cys) c.-80T>G (n.-80T>G) | |
12 | g.101770157A>G | CA386302802 | GNPTAB | c.1148T>C (p.Phe383Ser) c.1067T>C (p.Phe356Ser) c.932T>C (p.Phe311Ser) c.-80T>C (n.-80T>C) | |
12 | g.101770157A>T | CA386302804 | GNPTAB | c.1148T>A (p.Phe383Tyr) c.1067T>A (p.Phe356Tyr) c.932T>A (p.Phe311Tyr) c.-80T>A (n.-80T>A) | |
12 | g.101770158A>C | CA386302805 | GNPTAB | c.1147T>G (p.Phe383Val) c.1066T>G (p.Phe356Val) c.931T>G (p.Phe311Val) c.-81T>G (n.-81T>G) | gnomAD v4 |
12 | g.101770158A>G | CA386302807 | GNPTAB | c.1147T>C (p.Phe383Leu) c.1066T>C (p.Phe356Leu) c.931T>C (p.Phe311Leu) c.-81T>C (n.-81T>C) | |
12 | g.101770158A>T | CA386302809 | GNPTAB | c.1147T>A (p.Phe383Ile) c.1066T>A (p.Phe356Ile) c.931T>A (p.Phe311Ile) c.-81T>A (n.-81T>A) | |
12 | g.101770159G>A | CA6746691 | GNPTAB | c.1146C>T (p.Thr382=) c.1065C>T (p.Thr355=) c.930C>T (p.Thr310=) c.-82C>T (n.-82C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770159G>C | CA481577894 | GNPTAB | c.1146C>G (p.Thr382=) c.1065C>G (p.Thr355=) c.930C>G (p.Thr310=) c.-82C>G (n.-82C>G) | gnomAD v4 |
12 | g.101770159G= | CA2058957889 | GNPTAB | c.1146C= (p.Thr382=) c.1065C= (p.Thr355=) c.930C= (p.Thr310=) c.-82C= (n.-82C=) | |
12 | g.101770159G>T | CA481577895 | GNPTAB | c.1146C>A (p.Thr382=) c.1065C>A (p.Thr355=) c.930C>A (p.Thr310=) c.-82C>A (n.-82C>A) | |
12 | g.101770160G>A | CA242462356 | GNPTAB | c.1145C>T (p.Thr382Ile) c.1064C>T (p.Thr355Ile) c.929C>T (p.Thr310Ile) c.-83C>T (n.-83C>T) | dbSNP |
12 | g.101770160G>C | CA386302811 | GNPTAB | c.1145C>G (p.Thr382Ser) c.1064C>G (p.Thr355Ser) c.929C>G (p.Thr310Ser) c.-83C>G (n.-83C>G) | |
12 | g.101770160G= | CA2058957890 | GNPTAB | c.1145C= (p.Thr382=) c.1064C= (p.Thr355=) c.929C= (p.Thr310=) c.-83C= (n.-83C=) | |
12 | g.101770160G>T | CA386302813 | GNPTAB | c.1145C>A (p.Thr382Asn) c.1064C>A (p.Thr355Asn) c.929C>A (p.Thr310Asn) c.-83C>A (n.-83C>A) | |
12 | g.101770161T>A | CA386302814 | GNPTAB | c.1144A>T (p.Thr382Ser) c.1063A>T (p.Thr355Ser) c.928A>T (p.Thr310Ser) c.-84A>T (n.-84A>T) | |
12 | g.101770161T>C | CA6746692 | GNPTAB | c.1144A>G (p.Thr382Ala) c.1063A>G (p.Thr355Ala) c.928A>G (p.Thr310Ala) c.-84A>G (n.-84A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101770161T>G | CA239360 | GNPTAB | c.1144A>C (p.Thr382Pro) c.1063A>C (p.Thr355Pro) c.928A>C (p.Thr310Pro) c.-84A>C (n.-84A>C) | ClinVar dbSNP |
12 | g.101770161T= | CA2058957891 | GNPTAB | c.1144A= (p.Thr382=) c.1063A= (p.Thr355=) c.928A= (p.Thr310=) c.-84A= (n.-84A=) | |
12 | g.101770162A>C | CA481577896 | GNPTAB | c.1143T>G (p.Pro381=) c.1062T>G (p.Pro354=) c.927T>G (p.Pro309=) c.-85T>G (n.-85T>G) | |
12 | g.101770162A>G | CA481577898 | GNPTAB | c.1143T>C (p.Pro381=) c.1062T>C (p.Pro354=) c.927T>C (p.Pro309=) c.-85T>C (n.-85T>C) | |
12 | g.101770162A>T | CA481577897 | GNPTAB | c.1143T>A (p.Pro381=) c.1062T>A (p.Pro354=) c.927T>A (p.Pro309=) c.-85T>A (n.-85T>A) | |
12 | g.101770163G>A | CA386302816 | GNPTAB | c.1142C>T (p.Pro381Leu) c.1061C>T (p.Pro354Leu) c.926C>T (p.Pro309Leu) c.-86C>T (n.-86C>T) | |
12 | g.101770163G>C | CA386302819 | GNPTAB | c.1142C>G (p.Pro381Arg) c.1061C>G (p.Pro354Arg) c.926C>G (p.Pro309Arg) c.-86C>G (n.-86C>G) | |
12 | g.101770163G>T | CA386302818 | GNPTAB | c.1142C>A (p.Pro381His) c.1061C>A (p.Pro354His) c.926C>A (p.Pro309His) c.-86C>A (n.-86C>A) | |
12 | g.101770164G>A | CA386302821 | GNPTAB | c.1141C>T (p.Pro381Ser) c.1060C>T (p.Pro354Ser) c.925C>T (p.Pro309Ser) c.-87C>T (n.-87C>T) | |
12 | g.101770164G>C | CA386302822 | GNPTAB | c.1141C>G (p.Pro381Ala) c.1060C>G (p.Pro354Ala) c.925C>G (p.Pro309Ala) c.-87C>G (n.-87C>G) | |
12 | g.101770164G>T | CA386302824 | GNPTAB | c.1141C>A (p.Pro381Thr) c.1060C>A (p.Pro354Thr) c.925C>A (p.Pro309Thr) c.-87C>A (n.-87C>A) | |
12 | g.101770165C>A | CA386302825 | GNPTAB | c.1140G>T (p.Leu380Phe) c.1059G>T (p.Leu353Phe) c.924G>T (p.Leu308Phe) c.-88G>T (n.-88G>T) | |
12 | g.101770165C>G | CA386302826 | GNPTAB | c.1140G>C (p.Leu380Phe) c.1059G>C (p.Leu353Phe) c.924G>C (p.Leu308Phe) c.-88G>C (n.-88G>C) | |
12 | g.101770165C>T | CA481577899 | GNPTAB | c.1140G>A (p.Leu380=) c.1059G>A (p.Leu353=) c.924G>A (p.Leu308=) c.-88G>A (n.-88G>A) | |
12 | g.101770166A= | CA2058957892 | GNPTAB | c.1139T= (p.Leu380=) c.1058T= (p.Leu353=) c.923T= (p.Leu308=) c.-89T= (n.-89T=) | |
12 | g.101770166A>C | CA386302827 | GNPTAB | c.1139T>G (p.Leu380Trp) c.1058T>G (p.Leu353Trp) c.923T>G (p.Leu308Trp) c.-89T>G (n.-89T>G) | |
12 | g.101770166A>G | CA386302828 | GNPTAB | c.1139T>C (p.Leu380Ser) c.1058T>C (p.Leu353Ser) c.923T>C (p.Leu308Ser) c.-89T>C (n.-89T>C) | dbSNP gnomAD v4 |
12 | g.101770166A>T | CA386302830 | GNPTAB | c.1139T>A (p.Leu380Ter) c.1058T>A (p.Leu353Ter) c.923T>A (p.Leu308Ter) c.-89T>A (n.-89T>A) | |
12 | g.101770167A>C | CA386302831 | GNPTAB | c.1138T>G (p.Leu380Val) c.1057T>G (p.Leu353Val) c.922T>G (p.Leu308Val) c.-90T>G (n.-90T>G) | |
12 | g.101770167A>G | CA481577900 | GNPTAB | c.1138T>C (p.Leu380=) c.1057T>C (p.Leu353=) c.922T>C (p.Leu308=) c.-90T>C (n.-90T>C) | |
12 | g.101770167A>T | CA386302833 | GNPTAB | c.1138T>A (p.Leu380Met) c.1057T>A (p.Leu353Met) c.922T>A (p.Leu308Met) c.-90T>A (n.-90T>A) | |
12 | g.101770168G>A | CA481577901 | GNPTAB | c.1137C>T (p.His379=) c.1056C>T (p.His352=) c.921C>T (p.His307=) c.-91C>T (n.-91C>T) | |
12 | g.101770168G>C | CA386302834 | GNPTAB | c.1137C>G (p.His379Gln) c.1056C>G (p.His352Gln) c.921C>G (p.His307Gln) c.-91C>G (n.-91C>G) | |
12 | g.101770168G>T | CA386302836 | GNPTAB | c.1137C>A (p.His379Gln) c.1056C>A (p.His352Gln) c.921C>A (p.His307Gln) c.-91C>A (n.-91C>A) | |
12 | g.101770169T>A | CA386302837 | GNPTAB | c.1136A>T (p.His379Leu) c.1055A>T (p.His352Leu) c.920A>T (p.His307Leu) c.-92A>T (n.-92A>T) | |
12 | g.101770169T>C | CA386302840 | GNPTAB | c.1136A>G (p.His379Arg) c.1055A>G (p.His352Arg) c.920A>G (p.His307Arg) c.-92A>G (n.-92A>G) | gnomAD v4 |
12 | g.101770169T>G | CA386302839 | GNPTAB | c.1136A>C (p.His379Pro) c.1055A>C (p.His352Pro) c.920A>C (p.His307Pro) c.-92A>C (n.-92A>C) | |
12 | g.101770170G>A | CA386302842 | GNPTAB | c.1135C>T (p.His379Tyr) c.1054C>T (p.His352Tyr) c.919C>T (p.His307Tyr) c.-93C>T (n.-93C>T) | |
12 | g.101770170G>C | CA386302844 | GNPTAB | c.1135C>G (p.His379Asp) c.1054C>G (p.His352Asp) c.919C>G (p.His307Asp) c.-93C>G (n.-93C>G) | |
12 | g.101770170G>T | CA386302845 | GNPTAB | c.1135C>A (p.His379Asn) c.1054C>A (p.His352Asn) c.919C>A (p.His307Asn) c.-93C>A (n.-93C>A) | |
12 | g.101770171G>A | CA481577902 | GNPTAB | c.1134C>T (p.Ser378=) c.1053C>T (p.Ser351=) c.918C>T (p.Ser306=) c.-94C>T (n.-94C>T) | |
12 | g.101770171G>C | CA386302846 | GNPTAB | c.1134C>G (p.Ser378Arg) c.1053C>G (p.Ser351Arg) c.918C>G (p.Ser306Arg) c.-94C>G (n.-94C>G) | ClinVar dbSNP gnomAD v4 |
12 | g.101770171G>T | CA386302848 | GNPTAB | c.1134C>A (p.Ser378Arg) c.1053C>A (p.Ser351Arg) c.918C>A (p.Ser306Arg) c.-94C>A (n.-94C>A) | |
12 | g.101770172C>A | CA386302849 | GNPTAB | c.1133G>T (p.Ser378Ile) c.1052G>T (p.Ser351Ile) c.917G>T (p.Ser306Ile) c.-95G>T (n.-95G>T) | |
12 | g.101770172C>G | CA386302851 | GNPTAB | c.1133G>C (p.Ser378Thr) c.1052G>C (p.Ser351Thr) c.917G>C (p.Ser306Thr) c.-95G>C (n.-95G>C) | |
12 | g.101770172C>T | CA386302853 | GNPTAB | c.1133G>A (p.Ser378Asn) c.1052G>A (p.Ser351Asn) c.917G>A (p.Ser306Asn) c.-95G>A (n.-95G>A) | |
12 | g.101770173T>A | CA386302854 | GNPTAB | c.1132A>T (p.Ser378Cys) c.1051A>T (p.Ser351Cys) c.916A>T (p.Ser306Cys) c.-96A>T (n.-96A>T) | |
12 | g.101770173T>C | CA386302855 | GNPTAB | c.1132A>G (p.Ser378Gly) c.1051A>G (p.Ser351Gly) c.916A>G (p.Ser306Gly) c.-96A>G (n.-96A>G) | gnomAD v4 |
12 | g.101770173T>G | CA386302857 | GNPTAB | c.1132A>C (p.Ser378Arg) c.1051A>C (p.Ser351Arg) c.916A>C (p.Ser306Arg) c.-96A>C (n.-96A>C) | |
12 | g.101770174C>A | CA386302858 | GNPTAB | c.1131G>T (p.Leu377Phe) c.1050G>T (p.Leu350Phe) c.915G>T (p.Leu305Phe) c.-97G>T (n.-97G>T) | |
12 | g.101770174C>G | CA386302860 | GNPTAB | c.1131G>C (p.Leu377Phe) c.1050G>C (p.Leu350Phe) c.915G>C (p.Leu305Phe) c.-97G>C (n.-97G>C) | |
12 | g.101770174C>T | CA481577903 | GNPTAB | c.1131G>A (p.Leu377=) c.1050G>A (p.Leu350=) c.915G>A (p.Leu305=) c.-97G>A (n.-97G>A) | |
12 | g.101770175A>C | CA386302862 | GNPTAB | c.1130T>G (p.Leu377Trp) c.1049T>G (p.Leu350Trp) c.914T>G (p.Leu305Trp) c.-98T>G (n.-98T>G) | |
12 | g.101770175A>G | CA386302864 | GNPTAB | c.1130T>C (p.Leu377Ser) c.1049T>C (p.Leu350Ser) c.914T>C (p.Leu305Ser) c.-98T>C (n.-98T>C) | |
12 | g.101770175A>T | CA386302863 | GNPTAB | c.1130T>A (p.Leu377Ter) c.1049T>A (p.Leu350Ter) c.914T>A (p.Leu305Ter) c.-98T>A (n.-98T>A) | |
12 | g.101770176A>C | CA386302865 | GNPTAB | c.1129T>G (p.Leu377Val) c.1048T>G (p.Leu350Val) c.913T>G (p.Leu305Val) c.-99T>G (n.-99T>G) | |
12 | g.101770176A>G | CA481577904 | GNPTAB | c.1129T>C (p.Leu377=) c.1048T>C (p.Leu350=) c.913T>C (p.Leu305=) c.-99T>C (n.-99T>C) | |
12 | g.101770176A>T | CA386302866 | GNPTAB | c.1129T>A (p.Leu377Met) c.1048T>A (p.Leu350Met) c.913T>A (p.Leu305Met) c.-99T>A (n.-99T>A) | |
12 | g.101770177A>C | CA386302867 | GNPTAB | c.1128T>G (p.Asn376Lys) c.1047T>G (p.Asn349Lys) c.912T>G (p.Asn304Lys) c.-100T>G (n.-100T>G) | |
12 | g.101770177A>G | CA481577905 | GNPTAB | c.1128T>C (p.Asn376=) c.1047T>C (p.Asn349=) c.912T>C (p.Asn304=) c.-100T>C (n.-100T>C) | gnomAD v4 |
12 | g.101770177A>T | CA386302868 | GNPTAB | c.1128T>A (p.Asn376Lys) c.1047T>A (p.Asn349Lys) c.912T>A (p.Asn304Lys) c.-100T>A (n.-100T>A) | COSMIC COSMIC |
12 | g.101770178T>A | CA386302869 | GNPTAB | c.1127A>T (p.Asn376Ile) c.1046A>T (p.Asn349Ile) c.911A>T (p.Asn304Ile) c.-101A>T (n.-101A>T) | |
12 | g.101770178T>C | CA242462366 | GNPTAB | c.1127A>G (p.Asn376Ser) c.1046A>G (p.Asn349Ser) c.911A>G (p.Asn304Ser) c.-101A>G (n.-101A>G) | dbSNP gnomAD v4 |
12 | g.101770178T>G | CA386302870 | GNPTAB | c.1127A>C (p.Asn376Thr) c.1046A>C (p.Asn349Thr) c.911A>C (p.Asn304Thr) c.-101A>C (n.-101A>C) | |
12 | g.101770178T= | CA2058957893 | GNPTAB | c.1127A= (p.Asn376=) c.1046A= (p.Asn349=) c.911A= (p.Asn304=) c.-101A= (n.-101A=) | |
12 | g.101770179T>A | CA386302871 | GNPTAB | c.1126A>T (p.Asn376Tyr) c.1045A>T (p.Asn349Tyr) c.910A>T (p.Asn304Tyr) c.-102A>T (n.-102A>T) | |
12 | g.101770179T>C | CA386302872 | GNPTAB | c.1126A>G (p.Asn376Asp) c.1045A>G (p.Asn349Asp) c.910A>G (p.Asn304Asp) c.-102A>G (n.-102A>G) | |
12 | g.101770179T>G | CA386302873 | GNPTAB | c.1126A>C (p.Asn376His) c.1045A>C (p.Asn349His) c.910A>C (p.Asn304His) c.-102A>C (n.-102A>C) | |
12 | g.101770180T>A | CA481577907 | GNPTAB | c.1125A>T (p.Arg375=) c.1044A>T (p.Arg348=) c.909A>T (p.Arg303=) c.-103A>T (n.-103A>T) | |
12 | g.101770180T>C | CA481577909 | GNPTAB | c.1125A>G (p.Arg375=) c.1044A>G (p.Arg348=) c.909A>G (p.Arg303=) c.-103A>G (n.-103A>G) | |
12 | g.101770180T>G | CA481577908 | GNPTAB | c.1125A>C (p.Arg375=) c.1044A>C (p.Arg348=) c.909A>C (p.Arg303=) c.-103A>C (n.-103A>C) | |
12 | g.101770181C>A | CA6746694 | GNPTAB | c.1124G>T (p.Arg375Leu) c.1043G>T (p.Arg348Leu) c.908G>T (p.Arg303Leu) c.-104G>T (n.-104G>T) | dbSNP ExAC gnomAD v2 |
12 | g.101770181C= | CA2058957894 | GNPTAB | c.1124G= (p.Arg375=) c.1043G= (p.Arg348=) c.908G= (p.Arg303=) c.-104G= (n.-104G=) | |
12 | g.101770181C>G | CA386302874 | GNPTAB | c.1124G>C (p.Arg375Pro) c.1043G>C (p.Arg348Pro) c.908G>C (p.Arg303Pro) c.-104G>C (n.-104G>C) | |
12 | g.101770181C>T | CA6746693 | GNPTAB | c.1124G>A (p.Arg375Gln) c.1043G>A (p.Arg348Gln) c.908G>A (p.Arg303Gln) c.-104G>A (n.-104G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770182G>A | CA223750 | GNPTAB | c.1123C>T (p.Arg375Ter) c.1042C>T (p.Arg348Ter) c.907C>T (p.Arg303Ter) c.-105C>T (n.-105C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770182G>C | CA386302875 | GNPTAB | c.1123C>G (p.Arg375Gly) c.1042C>G (p.Arg348Gly) c.907C>G (p.Arg303Gly) c.-105C>G (n.-105C>G) | |
12 | g.101770182G= | CA2058957895 | GNPTAB | c.1123C= (p.Arg375=) c.1042C= (p.Arg348=) c.907C= (p.Arg303=) c.-105C= (n.-105C=) | |
12 | g.101770182G>T | CA481577911 | GNPTAB | c.1123C>A (p.Arg375=) c.1042C>A (p.Arg348=) c.907C>A (p.Arg303=) c.-105C>A (n.-105C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770183A>C | CA386302876 | GNPTAB | c.1122T>G (p.Phe374Leu) c.1041T>G (p.Phe347Leu) c.906T>G (p.Phe302Leu) c.-106T>G (n.-106T>G) | |
12 | g.101770183A>G | CA481577912 | GNPTAB | c.1122T>C (p.Phe374=) c.1041T>C (p.Phe347=) c.906T>C (p.Phe302=) c.-106T>C (n.-106T>C) | |
12 | g.101770183A>T | CA386302877 | GNPTAB | c.1122T>A (p.Phe374Leu) c.1041T>A (p.Phe347Leu) c.906T>A (p.Phe302Leu) c.-106T>A (n.-106T>A) | gnomAD v4 |
12 | g.101770187dup | CA2573147961 | GNPTAB | c.1122dup (p.Arg375SerfsTer10) c.1041dup (p.Arg348SerfsTer10) c.906dup (p.Arg303SerfsTer10) c.-106dup (n.-106dup) | ClinVar dbSNP |
12 | g.101770184A>C | CA386302878 | GNPTAB | c.1121T>G (p.Phe374Cys) c.1040T>G (p.Phe347Cys) c.905T>G (p.Phe302Cys) c.-107T>G (n.-107T>G) | |
12 | g.101770184A>G | CA386302879 | GNPTAB | c.1121T>C (p.Phe374Ser) c.1040T>C (p.Phe347Ser) c.905T>C (p.Phe302Ser) c.-107T>C (n.-107T>C) | |
12 | g.101770184A>T | CA386302880 | GNPTAB | c.1121T>A (p.Phe374Tyr) c.1040T>A (p.Phe347Tyr) c.905T>A (p.Phe302Tyr) c.-107T>A (n.-107T>A) | |
12 | g.101770185A= | CA2058957896 | GNPTAB | c.1120T= (p.Phe374=) c.1039T= (p.Phe347=) c.904T= (p.Phe302=) c.-108T= (n.-108T=) | |
12 | g.101770185A>C | CA386302881 | GNPTAB | c.1120T>G (p.Phe374Val) c.1039T>G (p.Phe347Val) c.904T>G (p.Phe302Val) c.-108T>G (n.-108T>G) | |
12 | g.101770185A>G | CA252415 | GNPTAB | c.1120T>C (p.Phe374Leu) c.1039T>C (p.Phe347Leu) c.904T>C (p.Phe302Leu) c.-108T>C (n.-108T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770185A>T | CA386302882 | GNPTAB | c.1120T>A (p.Phe374Ile) c.1039T>A (p.Phe347Ile) c.904T>A (p.Phe302Ile) c.-108T>A (n.-108T>A) | |
12 | g.101770186A>C | CA481577914 | GNPTAB | c.1119T>G (p.Val373=) c.1038T>G (p.Val346=) c.903T>G (p.Val301=) c.-109T>G (n.-109T>G) | |
12 | g.101770186A>G | CA481577915 | GNPTAB | c.1119T>C (p.Val373=) c.1038T>C (p.Val346=) c.903T>C (p.Val301=) c.-109T>C (n.-109T>C) | ClinVar |
12 | g.101770186A>T | CA481577917 | GNPTAB | c.1119T>A (p.Val373=) c.1038T>A (p.Val346=) c.903T>A (p.Val301=) c.-109T>A (n.-109T>A) | |
12 | g.101770190_101770203del | CA2573147962 | GNPTAB | c.1114-8_1119del c.1033-8_1038del c.898-8_903del c.-114-8_-109del | ClinVar dbSNP |
12 | g.101770187A>C | CA386302883 | GNPTAB | c.1118T>G (p.Val373Gly) c.1037T>G (p.Val346Gly) c.902T>G (p.Val301Gly) c.-110T>G (n.-110T>G) | |
12 | g.101770187A>G | CA386302884 | GNPTAB | c.1118T>C (p.Val373Ala) c.1037T>C (p.Val346Ala) c.902T>C (p.Val301Ala) c.-110T>C (n.-110T>C) | gnomAD v4 |
12 | g.101770187A>T | CA386302885 | GNPTAB | c.1118T>A (p.Val373Asp) c.1037T>A (p.Val346Asp) c.902T>A (p.Val301Asp) c.-110T>A (n.-110T>A) | |
12 | g.101770188C>A | CA386302886 | GNPTAB | c.1117G>T (p.Val373Phe) c.1036G>T (p.Val346Phe) c.901G>T (p.Val301Phe) c.-111G>T (n.-111G>T) | |
12 | g.101770188C>G | CA386302887 | GNPTAB | c.1117G>C (p.Val373Leu) c.1036G>C (p.Val346Leu) c.901G>C (p.Val301Leu) c.-111G>C (n.-111G>C) | |
12 | g.101770188C>T | CA386302888 | GNPTAB | c.1117G>A (p.Val373Ile) c.1036G>A (p.Val346Ile) c.901G>A (p.Val301Ile) c.-111G>A (n.-111G>A) | gnomAD v4 COSMIC COSMIC |
12 | g.101770189A>C | CA386302890 | GNPTAB | c.1116T>G (p.Asp372Glu) c.1035T>G (p.Asp345Glu) c.900T>G (p.Asp300Glu) c.-112T>G (n.-112T>G) | |
12 | g.101770189A>G | CA481577921 | GNPTAB | c.1116T>C (p.Asp372=) c.1035T>C (p.Asp345=) c.900T>C (p.Asp300=) c.-112T>C (n.-112T>C) | |
12 | g.101770189A>T | CA386302889 | GNPTAB | c.1116T>A (p.Asp372Glu) c.1035T>A (p.Asp345Glu) c.900T>A (p.Asp300Glu) c.-112T>A (n.-112T>A) | |
12 | g.101770190T>A | CA386302891 | GNPTAB | c.1115A>T (p.Asp372Val) c.1034A>T (p.Asp345Val) c.899A>T (p.Asp300Val) c.-113A>T (n.-113A>T) | |
12 | g.101770190T>C | CA386302892 | GNPTAB | c.1115A>G (p.Asp372Gly) c.1034A>G (p.Asp345Gly) c.899A>G (p.Asp300Gly) c.-113A>G (n.-113A>G) | |
12 | g.101770190T>G | CA386302893 | GNPTAB | c.1115A>C (p.Asp372Ala) c.1034A>C (p.Asp345Ala) c.899A>C (p.Asp300Ala) c.-113A>C (n.-113A>C) | |
12 | g.101770191C>A | CA386302894 | GNPTAB | c.1114G>T (p.Asp372Tyr) c.1033G>T (p.Asp345Tyr) c.898G>T (p.Asp300Tyr) c.-114G>T (n.-114G>T) | |
12 | g.101770191C= | CA2058957897 | GNPTAB | c.1114G= (p.Asp372=) c.1033G= (p.Asp345=) c.898G= (p.Asp300=) c.-114G= (n.-114G=) | |
12 | g.101770191C>G | CA386302895 | GNPTAB | c.1114G>C (p.Asp372His) c.1033G>C (p.Asp345His) c.898G>C (p.Asp300His) c.-114G>C (n.-114G>C) | gnomAD v4 |
12 | g.101770191C>T | CA386302896 | GNPTAB | c.1114G>A (p.Asp372Asn) c.1033G>A (p.Asp345Asn) c.898G>A (p.Asp300Asn) c.-114G>A (n.-114G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770192C>A | CA386302897 | GNPTAB | c.1114-1G>T (n.1114-1G>T) c.1033-1G>T (n.1033-1G>T) c.898-1G>T (n.898-1G>T) c.-114-1G>T (n.-114-1G>T) | COSMIC COSMIC |
12 | g.101770192C>G | CA386302898 | GNPTAB | c.1114-1G>C (n.1114-1G>C) c.1033-1G>C (n.1033-1G>C) c.898-1G>C (n.898-1G>C) c.-114-1G>C (n.-114-1G>C) | |
12 | g.101770192C>T | CA386302899 | GNPTAB | c.1114-1G>A (n.1114-1G>A) c.1033-1G>A (n.1033-1G>A) c.898-1G>A (n.898-1G>A) c.-114-1G>A (n.-114-1G>A) | |
12 | g.101770193T>A | CA386302900 | GNPTAB | c.1114-2A>T (n.1114-2A>T) c.1033-2A>T (n.1033-2A>T) c.898-2A>T (n.898-2A>T) c.-114-2A>T (n.-114-2A>T) | |
12 | g.101770193T>C | CA386302901 | GNPTAB | c.1114-2A>G (n.1114-2A>G) c.1033-2A>G (n.1033-2A>G) c.898-2A>G (n.898-2A>G) c.-114-2A>G (n.-114-2A>G) | ClinVar dbSNP |
12 | g.101770193T>G | CA386302902 | GNPTAB | c.1114-2A>C (n.1114-2A>C) c.1033-2A>C (n.1033-2A>C) c.898-2A>C (n.898-2A>C) c.-114-2A>C (n.-114-2A>C) | |
12 | g.101770196_101770199delinsTAAC | CA2058957898 | GNPTAB | c.1114-8_1114-5delinsGTTA (n.1114-8_1114-5delinsGTTA) c.1033-8_1033-5delinsGTTA (n.1033-8_1033-5delinsGTTA) c.898-8_898-5delinsGTTA (n.898-8_898-5delinsGTTA) c.-114-8_-114-5delinsGTTA (n.-114-8_-114-5delinsGTTA) | |
12 | g.101770205_101770207del | CA6746695 | GNPTAB | c.1114-8_1114-6del (n.1114-8_1114-6del) c.1033-8_1033-6del (n.1033-8_1033-6del) c.898-8_898-6del (n.898-8_898-6del) c.-114-8_-114-6del (n.-114-8_-114-6del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770198A>T | CA2620451684 | GNPTAB | c.1114-7T>A (n.1114-7T>A) c.1033-7T>A (n.1033-7T>A) c.898-7T>A (n.898-7T>A) c.-114-7T>A (n.-114-7T>A) | gnomAD v4 |
12 | g.101770199_101770200del | CA2620451682 | GNPTAB | c.1114-8_1114-7del (n.1114-8_1114-7del) c.1033-8_1033-7del (n.1033-8_1033-7del) c.898-8_898-7del (n.898-8_898-7del) c.-114-8_-114-7del (n.-114-8_-114-7del) | gnomAD v4 |