| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101768023_101768107dup | CA951152237 | GNPTAB | c.1338_1408+14dup c.1338_1422dup (p.Asn475AspfsTer2) c.1257_1327+14dup c.1122_1192+14dup c.111_181+14dup | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101768071dup | CA2620450360 | GNPTAB | c.1375dup (p.Ser459PhefsTer?) c.1375dup (p.Ser459PhefsTer13) n.34dup c.1294dup (p.Ser432PhefsTer?) c.1159dup (p.Ser387PhefsTer?) c.148dup (p.Ser50PhefsTer?) | gnomAD v4 |
| 12 | g.101768071A>C | CA386301851 | GNPTAB | c.1374T>G (p.Asn458Lys) n.33T>G c.1293T>G (p.Asn431Lys) c.1158T>G (p.Asn386Lys) c.147T>G (p.Asn49Lys) | |
| 12 | g.101768071A>G | CA481320422 | GNPTAB | c.1374T>C (p.Asn458=) n.33T>C c.1293T>C (p.Asn431=) c.1158T>C (p.Asn386=) c.147T>C (p.Asn49=) | |
| 12 | g.101768071A>T | CA386301853 | GNPTAB | c.1374T>A (p.Asn458Lys) n.33T>A c.1293T>A (p.Asn431Lys) c.1158T>A (p.Asn386Lys) c.147T>A (p.Asn49Lys) | |
| 12 | g.101768072T>A | CA386301856 | GNPTAB | c.1373A>T (p.Asn458Ile) n.32A>T c.1292A>T (p.Asn431Ile) c.1157A>T (p.Asn386Ile) c.146A>T (p.Asn49Ile) | |
| 12 | g.101768072T>C | CA386301858 | GNPTAB | c.1373A>G (p.Asn458Ser) n.32A>G c.1292A>G (p.Asn431Ser) c.1157A>G (p.Asn386Ser) c.146A>G (p.Asn49Ser) | |
| 12 | g.101768072T>G | CA386301860 | GNPTAB | c.1373A>C (p.Asn458Thr) n.32A>C c.1292A>C (p.Asn431Thr) c.1157A>C (p.Asn386Thr) c.146A>C (p.Asn49Thr) | |
| 12 | g.101768073T>A | CA386301864 | GNPTAB | c.1372A>T (p.Asn458Tyr) n.31A>T c.1291A>T (p.Asn431Tyr) c.1156A>T (p.Asn386Tyr) c.145A>T (p.Asn49Tyr) | |
| 12 | g.101768073T>C | CA386301866 | GNPTAB | c.1372A>G (p.Asn458Asp) n.31A>G c.1291A>G (p.Asn431Asp) c.1156A>G (p.Asn386Asp) c.145A>G (p.Asn49Asp) | |
| 12 | g.101768073T>G | CA386301862 | GNPTAB | c.1372A>C (p.Asn458His) n.31A>C c.1291A>C (p.Asn431His) c.1156A>C (p.Asn386His) c.145A>C (p.Asn49His) | |
| 12 | g.101768074A>C | CA386301868 | GNPTAB | c.1371T>G (p.Asn457Lys) n.30T>G c.1290T>G (p.Asn430Lys) c.1155T>G (p.Asn385Lys) c.144T>G (p.Asn48Lys) | |
| 12 | g.101768074A>G | CA481320433 | GNPTAB | c.1371T>C (p.Asn457=) n.30T>C c.1290T>C (p.Asn430=) c.1155T>C (p.Asn385=) c.144T>C (p.Asn48=) | |
| 12 | g.101768074A>T | CA386301870 | GNPTAB | c.1371T>A (p.Asn457Lys) n.30T>A c.1290T>A (p.Asn430Lys) c.1155T>A (p.Asn385Lys) c.144T>A (p.Asn48Lys) | |
| 12 | g.101768075T>A | CA386301872 | GNPTAB | c.1370A>T (p.Asn457Ile) n.29A>T c.1289A>T (p.Asn430Ile) c.1154A>T (p.Asn385Ile) c.143A>T (p.Asn48Ile) | |
| 12 | g.101768075T>C | CA386301874 | GNPTAB | c.1370A>G (p.Asn457Ser) n.29A>G c.1289A>G (p.Asn430Ser) c.1154A>G (p.Asn385Ser) c.143A>G (p.Asn48Ser) | |
| 12 | g.101768075T>G | CA386301876 | GNPTAB | c.1370A>C (p.Asn457Thr) n.29A>C c.1289A>C (p.Asn430Thr) c.1154A>C (p.Asn385Thr) c.143A>C (p.Asn48Thr) | |
| 12 | g.101768076T>A | CA386301882 | GNPTAB | c.1369A>T (p.Asn457Tyr) n.28A>T c.1288A>T (p.Asn430Tyr) c.1153A>T (p.Asn385Tyr) c.142A>T (p.Asn48Tyr) | |
| 12 | g.101768076T>C | CA386301878 | GNPTAB | c.1369A>G (p.Asn457Asp) n.28A>G c.1288A>G (p.Asn430Asp) c.1153A>G (p.Asn385Asp) c.142A>G (p.Asn48Asp) | |
| 12 | g.101768076T>G | CA386301880 | GNPTAB | c.1369A>C (p.Asn457His) n.28A>C c.1288A>C (p.Asn430His) c.1153A>C (p.Asn385His) c.142A>C (p.Asn48His) | |
| 12 | g.101768077A>C | CA386301884 | GNPTAB | c.1368T>G (p.Cys456Trp) n.27T>G c.1287T>G (p.Cys429Trp) c.1152T>G (p.Cys384Trp) c.141T>G (p.Cys47Trp) | |
| 12 | g.101768077A>G | CA481320447 | GNPTAB | c.1368T>C (p.Cys456=) n.27T>C c.1287T>C (p.Cys429=) c.1152T>C (p.Cys384=) c.141T>C (p.Cys47=) | gnomAD v4 |
| 12 | g.101768077A>T | CA386301886 | GNPTAB | c.1368T>A (p.Cys456Ter) n.27T>A c.1287T>A (p.Cys429Ter) c.1152T>A (p.Cys384Ter) c.141T>A (p.Cys47Ter) | |
| 12 | g.101768078C>A | CA386301888 | GNPTAB | c.1367G>T (p.Cys456Phe) n.26G>T c.1286G>T (p.Cys429Phe) c.1151G>T (p.Cys384Phe) c.140G>T (p.Cys47Phe) | |
| 12 | g.101768078C>G | CA386301890 | GNPTAB | c.1367G>C (p.Cys456Ser) n.26G>C c.1286G>C (p.Cys429Ser) c.1151G>C (p.Cys384Ser) c.140G>C (p.Cys47Ser) | |
| 12 | g.101768078C>T | CA386301892 | GNPTAB | c.1367G>A (p.Cys456Tyr) n.26G>A c.1286G>A (p.Cys429Tyr) c.1151G>A (p.Cys384Tyr) c.140G>A (p.Cys47Tyr) | gnomAD v4 |
| 12 | g.101768079A>C | CA386301897 | GNPTAB | c.1366T>G (p.Cys456Gly) n.25T>G c.1285T>G (p.Cys429Gly) c.1150T>G (p.Cys384Gly) c.139T>G (p.Cys47Gly) | |
| 12 | g.101768079A>G | CA386301896 | GNPTAB | c.1366T>C (p.Cys456Arg) n.25T>C c.1285T>C (p.Cys429Arg) c.1150T>C (p.Cys384Arg) c.139T>C (p.Cys47Arg) | |
| 12 | g.101768079A>T | CA386301895 | GNPTAB | c.1366T>A (p.Cys456Ser) n.25T>A c.1285T>A (p.Cys429Ser) c.1150T>A (p.Cys384Ser) c.139T>A (p.Cys47Ser) | |
| 12 | g.101768080A>C | CA481320452 | GNPTAB | c.1365T>G (p.Ala455=) n.24T>G c.1284T>G (p.Ala428=) c.1149T>G (p.Ala383=) c.138T>G (p.Ala46=) | |
| 12 | g.101768080A>G | CA481320453 | GNPTAB | c.1365T>C (p.Ala455=) n.24T>C c.1284T>C (p.Ala428=) c.1149T>C (p.Ala383=) c.138T>C (p.Ala46=) | |
| 12 | g.101768080A>T | CA481320454 | GNPTAB | c.1365T>A (p.Ala455=) n.24T>A c.1284T>A (p.Ala428=) c.1149T>A (p.Ala383=) c.138T>A (p.Ala46=) | |
| 12 | g.101768081G>A | CA386301900 | GNPTAB | c.1364C>T (p.Ala455Val) n.23C>T c.1283C>T (p.Ala428Val) c.1148C>T (p.Ala383Val) c.137C>T (p.Ala46Val) | ClinVar |
| 12 | g.101768081G>C | CA386301904 | GNPTAB | c.1364C>G (p.Ala455Gly) n.23C>G c.1283C>G (p.Ala428Gly) c.1148C>G (p.Ala383Gly) c.137C>G (p.Ala46Gly) | |
| 12 | g.101768081G>T | CA386301902 | GNPTAB | c.1364C>A (p.Ala455Asp) n.23C>A c.1283C>A (p.Ala428Asp) c.1148C>A (p.Ala383Asp) c.137C>A (p.Ala46Asp) | |
| 12 | g.101768082C>A | CA6746648 | GNPTAB | c.1363G>T (p.Ala455Ser) n.22G>T c.1282G>T (p.Ala428Ser) c.1147G>T (p.Ala383Ser) c.136G>T (p.Ala46Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768082C= | CA2058956979 | GNPTAB | c.1363G= (p.Ala455=) n.22G= c.1282G= (p.Ala428=) c.1147G= (p.Ala383=) c.136G= (p.Ala46=) | |
| 12 | g.101768082C>G | CA386301907 | GNPTAB | c.1363G>C (p.Ala455Pro) n.22G>C c.1282G>C (p.Ala428Pro) c.1147G>C (p.Ala383Pro) c.136G>C (p.Ala46Pro) | |
| 12 | g.101768082C>T | CA386301909 | GNPTAB | c.1363G>A (p.Ala455Thr) n.22G>A c.1282G>A (p.Ala428Thr) c.1147G>A (p.Ala383Thr) c.136G>A (p.Ala46Thr) | |
| 12 | g.101768083C>A | CA386301911 | GNPTAB | c.1362G>T (p.Lys454Asn) n.21G>T c.1281G>T (p.Lys427Asn) c.1146G>T (p.Lys382Asn) c.135G>T (p.Lys45Asn) | dbSNP |
| 12 | g.101768083C= | CA2058956980 | GNPTAB | c.1362G= (p.Lys454=) n.21G= c.1281G= (p.Lys427=) c.1146G= (p.Lys382=) c.135G= (p.Lys45=) | |
| 12 | g.101768083C>G | CA386301913 | GNPTAB | c.1362G>C (p.Lys454Asn) n.21G>C c.1281G>C (p.Lys427Asn) c.1146G>C (p.Lys382Asn) c.135G>C (p.Lys45Asn) | |
| 12 | g.101768083C>T | CA481320457 | GNPTAB | c.1362G>A (p.Lys454=) n.21G>A c.1281G>A (p.Lys427=) c.1146G>A (p.Lys382=) c.135G>A (p.Lys45=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101768084T>A | CA386301916 | GNPTAB | c.1361A>T (p.Lys454Met) n.20A>T c.1280A>T (p.Lys427Met) c.1145A>T (p.Lys382Met) c.134A>T (p.Lys45Met) | |
| 12 | g.101768084T>C | CA386301917 | GNPTAB | c.1361A>G (p.Lys454Arg) n.20A>G c.1280A>G (p.Lys427Arg) c.1145A>G (p.Lys382Arg) c.134A>G (p.Lys45Arg) | |
| 12 | g.101768084T>G | CA386301918 | GNPTAB | c.1361A>C (p.Lys454Thr) n.20A>C c.1280A>C (p.Lys427Thr) c.1145A>C (p.Lys382Thr) c.134A>C (p.Lys45Thr) | |
| 12 | g.101768085T>A | CA386301919 | GNPTAB | c.1360A>T (p.Lys454Ter) n.19A>T c.1279A>T (p.Lys427Ter) c.1144A>T (p.Lys382Ter) c.133A>T (p.Lys45Ter) | |
| 12 | g.101768085T>C | CA386301920 | GNPTAB | c.1360A>G (p.Lys454Glu) n.19A>G c.1279A>G (p.Lys427Glu) c.1144A>G (p.Lys382Glu) c.133A>G (p.Lys45Glu) | |
| 12 | g.101768085T>G | CA386301921 | GNPTAB | c.1360A>C (p.Lys454Gln) n.19A>C c.1279A>C (p.Lys427Gln) c.1144A>C (p.Lys382Gln) c.133A>C (p.Lys45Gln) | |
| 12 | g.101768086G>A | CA481320461 | GNPTAB | c.1359C>T (p.Asp453=) n.18C>T c.1278C>T (p.Asp426=) c.1143C>T (p.Asp381=) c.132C>T (p.Asp44=) | |
| 12 | g.101768086G>C | CA386301922 | GNPTAB | c.1359C>G (p.Asp453Glu) n.18C>G c.1278C>G (p.Asp426Glu) c.1143C>G (p.Asp381Glu) c.132C>G (p.Asp44Glu) | |
| 12 | g.101768086G>T | CA386301923 | GNPTAB | c.1359C>A (p.Asp453Glu) n.18C>A c.1278C>A (p.Asp426Glu) c.1143C>A (p.Asp381Glu) c.132C>A (p.Asp44Glu) | |
| 12 | g.101768087T>A | CA386301924 | GNPTAB | c.1358A>T (p.Asp453Val) n.17A>T c.1277A>T (p.Asp426Val) c.1142A>T (p.Asp381Val) c.131A>T (p.Asp44Val) | |
| 12 | g.101768087T>C | CA386301926 | GNPTAB | c.1358A>G (p.Asp453Gly) n.17A>G c.1277A>G (p.Asp426Gly) c.1142A>G (p.Asp381Gly) c.131A>G (p.Asp44Gly) | |
| 12 | g.101768087T>G | CA386301925 | GNPTAB | c.1358A>C (p.Asp453Ala) n.17A>C c.1277A>C (p.Asp426Ala) c.1142A>C (p.Asp381Ala) c.131A>C (p.Asp44Ala) | |
| 12 | g.101768088C>A | CA386301927 | GNPTAB | c.1357G>T (p.Asp453Tyr) n.16G>T c.1276G>T (p.Asp426Tyr) c.1141G>T (p.Asp381Tyr) c.130G>T (p.Asp44Tyr) | |
| 12 | g.101768088C>G | CA386301928 | GNPTAB | c.1357G>C (p.Asp453His) n.16G>C c.1276G>C (p.Asp426His) c.1141G>C (p.Asp381His) c.130G>C (p.Asp44His) | |
| 12 | g.101768088C>T | CA386301929 | GNPTAB | c.1357G>A (p.Asp453Asn) n.16G>A c.1276G>A (p.Asp426Asn) c.1141G>A (p.Asp381Asn) c.130G>A (p.Asp44Asn) | |
| 12 | g.101768089A>C | CA386301930 | GNPTAB | c.1356T>G (p.Cys452Trp) n.15T>G c.1275T>G (p.Cys425Trp) c.1140T>G (p.Cys380Trp) c.129T>G (p.Cys43Trp) | |
| 12 | g.101768089A>G | CA481320468 | GNPTAB | c.1356T>C (p.Cys452=) n.15T>C c.1275T>C (p.Cys425=) c.1140T>C (p.Cys380=) c.129T>C (p.Cys43=) | ClinVar |
| 12 | g.101768089A>T | CA386301931 | GNPTAB | c.1356T>A (p.Cys452Ter) n.15T>A c.1275T>A (p.Cys425Ter) c.1140T>A (p.Cys380Ter) c.129T>A (p.Cys43Ter) | |
| 12 | g.101768090C>A | CA386301932 | GNPTAB | c.1355G>T (p.Cys452Phe) n.14G>T c.1274G>T (p.Cys425Phe) c.1139G>T (p.Cys380Phe) c.128G>T (p.Cys43Phe) | |
| 12 | g.101768090C>G | CA386301933 | GNPTAB | c.1355G>C (p.Cys452Ser) n.14G>C c.1274G>C (p.Cys425Ser) c.1139G>C (p.Cys380Ser) c.128G>C (p.Cys43Ser) | |
| 12 | g.101768090C>T | CA386301934 | GNPTAB | c.1355G>A (p.Cys452Tyr) n.14G>A c.1274G>A (p.Cys425Tyr) c.1139G>A (p.Cys380Tyr) c.128G>A (p.Cys43Tyr) | gnomAD v4 |
| 12 | g.101768091A= | CA2058956981 | GNPTAB | c.1354T= (p.Cys452=) n.13T= c.1273T= (p.Cys425=) c.1138T= (p.Cys380=) c.127T= (p.Cys43=) | |
| 12 | g.101768091A>C | CA386301935 | GNPTAB | c.1354T>G (p.Cys452Gly) n.13T>G c.1273T>G (p.Cys425Gly) c.1138T>G (p.Cys380Gly) c.127T>G (p.Cys43Gly) | |
| 12 | g.101768091A>G | CA386301936 | GNPTAB | c.1354T>C (p.Cys452Arg) n.13T>C c.1273T>C (p.Cys425Arg) c.1138T>C (p.Cys380Arg) c.127T>C (p.Cys43Arg) | |
| 12 | g.101768091A>T | CA6746649 | GNPTAB | c.1354T>A (p.Cys452Ser) n.13T>A c.1273T>A (p.Cys425Ser) c.1138T>A (p.Cys380Ser) c.127T>A (p.Cys43Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101768092A>C | CA386301937 | GNPTAB | c.1353T>G (p.Tyr451Ter) n.12T>G c.1272T>G (p.Tyr424Ter) c.1137T>G (p.Tyr379Ter) c.126T>G (p.Tyr42Ter) | |
| 12 | g.101768092A>G | CA481320473 | GNPTAB | c.1353T>C (p.Tyr451=) n.12T>C c.1272T>C (p.Tyr424=) c.1137T>C (p.Tyr379=) c.126T>C (p.Tyr42=) | |
| 12 | g.101768092A>T | CA386301938 | GNPTAB | c.1353T>A (p.Tyr451Ter) n.12T>A c.1272T>A (p.Tyr424Ter) c.1137T>A (p.Tyr379Ter) c.126T>A (p.Tyr42Ter) | |
| 12 | g.101768093T>A | CA386301939 | GNPTAB | c.1352A>T (p.Tyr451Phe) n.11A>T c.1271A>T (p.Tyr424Phe) c.1136A>T (p.Tyr379Phe) c.125A>T (p.Tyr42Phe) | |
| 12 | g.101768093T>C | CA386301940 | GNPTAB | c.1352A>G (p.Tyr451Cys) n.11A>G c.1271A>G (p.Tyr424Cys) c.1136A>G (p.Tyr379Cys) c.125A>G (p.Tyr42Cys) | gnomAD v4 |
| 12 | g.101768093T>G | CA386301941 | GNPTAB | c.1352A>C (p.Tyr451Ser) n.11A>C c.1271A>C (p.Tyr424Ser) c.1136A>C (p.Tyr379Ser) c.125A>C (p.Tyr42Ser) | |
| 12 | g.101768094A= | CA2058956982 | GNPTAB | c.1351T= (p.Tyr451=) n.10T= c.1270T= (p.Tyr424=) c.1135T= (p.Tyr379=) c.124T= (p.Tyr42=) | |
| 12 | g.101768094A>C | CA386301942 | GNPTAB | c.1351T>G (p.Tyr451Asp) n.10T>G c.1270T>G (p.Tyr424Asp) c.1135T>G (p.Tyr379Asp) c.124T>G (p.Tyr42Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101768094A>G | CA386301943 | GNPTAB | c.1351T>C (p.Tyr451His) n.10T>C c.1270T>C (p.Tyr424His) c.1135T>C (p.Tyr379His) c.124T>C (p.Tyr42His) | |
| 12 | g.101768094A>T | CA386301944 | GNPTAB | c.1351T>A (p.Tyr451Asn) n.10T>A c.1270T>A (p.Tyr424Asn) c.1135T>A (p.Tyr379Asn) c.124T>A (p.Tyr42Asn) | |
| 12 | g.101768095G>A | CA481320477 | GNPTAB | c.1350C>T (p.Gly450=) n.9C>T c.1269C>T (p.Gly423=) c.1134C>T (p.Gly378=) c.123C>T (p.Gly41=) | |
| 12 | g.101768095G>C | CA481320480 | GNPTAB | c.1350C>G (p.Gly450=) n.9C>G c.1269C>G (p.Gly423=) c.1134C>G (p.Gly378=) c.123C>G (p.Gly41=) | gnomAD v4 |
| 12 | g.101768095G>T | CA481320479 | GNPTAB | c.1350C>A (p.Gly450=) n.9C>A c.1269C>A (p.Gly423=) c.1134C>A (p.Gly378=) c.123C>A (p.Gly41=) | |
| 12 | g.101768096C>A | CA386301947 | GNPTAB | c.1349G>T (p.Gly450Val) n.8G>T c.1268G>T (p.Gly423Val) c.1133G>T (p.Gly378Val) c.122G>T (p.Gly41Val) | |
| 12 | g.101768096C>G | CA386301945 | GNPTAB | c.1349G>C (p.Gly450Ala) n.8G>C c.1268G>C (p.Gly423Ala) c.1133G>C (p.Gly378Ala) c.122G>C (p.Gly41Ala) | |
| 12 | g.101768096C>T | CA386301946 | GNPTAB | c.1349G>A (p.Gly450Asp) n.8G>A c.1268G>A (p.Gly423Asp) c.1133G>A (p.Gly378Asp) c.122G>A (p.Gly41Asp) | |
| 12 | g.101768097C>A | CA386301948 | GNPTAB | c.1348G>T (p.Gly450Cys) n.7G>T c.1267G>T (p.Gly423Cys) c.1132G>T (p.Gly378Cys) c.121G>T (p.Gly41Cys) | |
| 12 | g.101768097C>G | CA386301949 | GNPTAB | c.1348G>C (p.Gly450Arg) n.7G>C c.1267G>C (p.Gly423Arg) c.1132G>C (p.Gly378Arg) c.121G>C (p.Gly41Arg) | |
| 12 | g.101768097C>T | CA386301950 | GNPTAB | c.1348G>A (p.Gly450Ser) n.7G>A c.1267G>A (p.Gly423Ser) c.1132G>A (p.Gly378Ser) c.121G>A (p.Gly41Ser) | |
| 12 | g.101768098A>C | CA386301951 | GNPTAB | c.1347T>G (p.Asp449Glu) n.6T>G c.1266T>G (p.Asp422Glu) c.1131T>G (p.Asp377Glu) c.120T>G (p.Asp40Glu) | |
| 12 | g.101768098A>G | CA481320489 | GNPTAB | c.1347T>C (p.Asp449=) n.6T>C c.1266T>C (p.Asp422=) c.1131T>C (p.Asp377=) c.120T>C (p.Asp40=) | |
| 12 | g.101768098A>T | CA386301952 | GNPTAB | c.1347T>A (p.Asp449Glu) n.6T>A c.1266T>A (p.Asp422Glu) c.1131T>A (p.Asp377Glu) c.120T>A (p.Asp40Glu) | |
| 12 | g.101768099T>A | CA386301953 | GNPTAB | c.1346A>T (p.Asp449Val) n.5A>T c.1265A>T (p.Asp422Val) c.1130A>T (p.Asp377Val) c.119A>T (p.Asp40Val) | gnomAD v4 |
| 12 | g.101768099T>C | CA386301955 | GNPTAB | c.1346A>G (p.Asp449Gly) n.5A>G c.1265A>G (p.Asp422Gly) c.1130A>G (p.Asp377Gly) c.119A>G (p.Asp40Gly) | |
| 12 | g.101768099T>G | CA386301954 | GNPTAB | c.1346A>C (p.Asp449Ala) n.5A>C c.1265A>C (p.Asp422Ala) c.1130A>C (p.Asp377Ala) c.119A>C (p.Asp40Ala) | |
| 12 | g.101768099_101768100delinsTC | CA2058956983 | GNPTAB | c.1345_1346delinsGA (p.Asp449=) n.4_5delinsGA c.1264_1265delinsGA (p.Asp422=) c.1129_1130delinsGA (p.Asp377=) c.118_119delinsGA (p.Asp40=) | |
| 12 | g.101768100C>A | CA386301956 | GNPTAB | c.1345G>T (p.Asp449Tyr) n.4G>T c.1264G>T (p.Asp422Tyr) c.1129G>T (p.Asp377Tyr) c.118G>T (p.Asp40Tyr) | |
| 12 | g.101768100C>G | CA386301957 | GNPTAB | c.1345G>C (p.Asp449His) n.4G>C c.1264G>C (p.Asp422His) c.1129G>C (p.Asp377His) c.118G>C (p.Asp40His) | |
| 12 | g.101768100C>T | CA386301958 | GNPTAB | c.1345G>A (p.Asp449Asn) n.4G>A c.1264G>A (p.Asp422Asn) c.1129G>A (p.Asp377Asn) c.118G>A (p.Asp40Asn) | |
| 12 | g.101768101del | CA607597966 | GNPTAB | c.1345del (p.Asp449MetfsTer?) c.1345del (p.Asp449MetfsTer26) n.4del c.1264del (p.Asp422MetfsTer?) c.1129del (p.Asp377MetfsTer?) c.118del (p.Asp40MetfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101768101C>A | CA386301959 | GNPTAB | c.1344G>T (p.Lys448Asn) n.3G>T c.1263G>T (p.Lys421Asn) c.1128G>T (p.Lys376Asn) c.117G>T (p.Lys39Asn) | dbSNP |
| 12 | g.101768101C= | CA2058956984 | GNPTAB | c.1344G= (p.Lys448=) n.3G= c.1263G= (p.Lys421=) c.1128G= (p.Lys376=) c.117G= (p.Lys39=) | |
| 12 | g.101768101C>G | CA386301960 | GNPTAB | c.1344G>C (p.Lys448Asn) n.3G>C c.1263G>C (p.Lys421Asn) c.1128G>C (p.Lys376Asn) c.117G>C (p.Lys39Asn) | |
| 12 | g.101768101C>T | CA481320496 | GNPTAB | c.1344G>A (p.Lys448=) n.3G>A c.1263G>A (p.Lys421=) c.1128G>A (p.Lys376=) c.117G>A (p.Lys39=) | |
| 12 | g.101768102T>A | CA386301961 | GNPTAB | c.1343A>T (p.Lys448Met) n.2A>T c.1262A>T (p.Lys421Met) c.1127A>T (p.Lys376Met) c.116A>T (p.Lys39Met) | |
| 12 | g.101768102T>C | CA386301962 | GNPTAB | c.1343A>G (p.Lys448Arg) n.2A>G c.1262A>G (p.Lys421Arg) c.1127A>G (p.Lys376Arg) c.116A>G (p.Lys39Arg) | |
| 12 | g.101768102T>G | CA386301963 | GNPTAB | c.1343A>C (p.Lys448Thr) n.2A>C c.1262A>C (p.Lys421Thr) c.1127A>C (p.Lys376Thr) c.116A>C (p.Lys39Thr) | |
| 12 | g.101768103T>A | CA386301964 | GNPTAB | c.1342A>T (p.Lys448Ter) n.1A>T c.1261A>T (p.Lys421Ter) c.1126A>T (p.Lys376Ter) c.115A>T (p.Lys39Ter) | ClinVar |
| 12 | g.101768103T>C | CA386301965 | GNPTAB | c.1342A>G (p.Lys448Glu) n.1A>G c.1261A>G (p.Lys421Glu) c.1126A>G (p.Lys376Glu) c.115A>G (p.Lys39Glu) | |
| 12 | g.101768103T>G | CA386301966 | GNPTAB | c.1342A>C (p.Lys448Gln) n.1A>C c.1261A>C (p.Lys421Gln) c.1126A>C (p.Lys376Gln) c.115A>C (p.Lys39Gln) | |
| 12 | g.101768104A>C | CA386301967 | GNPTAB | c.1341T>G (p.Ile447Met) c.1260T>G (p.Ile420Met) c.1125T>G (p.Ile375Met) c.114T>G (p.Ile38Met) | |
| 12 | g.101768104A>G | CA481320498 | GNPTAB | c.1341T>C (p.Ile447=) c.1260T>C (p.Ile420=) c.1125T>C (p.Ile375=) c.114T>C (p.Ile38=) | |
| 12 | g.101768104A>T | CA481320499 | GNPTAB | c.1341T>A (p.Ile447=) c.1260T>A (p.Ile420=) c.1125T>A (p.Ile375=) c.114T>A (p.Ile38=) | |
| 12 | g.101768105A= | CA2058956985 | GNPTAB | c.1340T= (p.Ile447=) c.1259T= (p.Ile420=) c.1124T= (p.Ile375=) c.113T= (p.Ile38=) | |
| 12 | g.101768105A>C | CA386301968 | GNPTAB | c.1340T>G (p.Ile447Ser) c.1259T>G (p.Ile420Ser) c.1124T>G (p.Ile375Ser) c.113T>G (p.Ile38Ser) | |
| 12 | g.101768105A>G | CA6746650 | GNPTAB | c.1340T>C (p.Ile447Thr) c.1259T>C (p.Ile420Thr) c.1124T>C (p.Ile375Thr) c.113T>C (p.Ile38Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101768105A>T | CA386301969 | GNPTAB | c.1340T>A (p.Ile447Asn) c.1259T>A (p.Ile420Asn) c.1124T>A (p.Ile375Asn) c.113T>A (p.Ile38Asn) | |
| 12 | g.101768106T>A | CA386301970 | GNPTAB | c.1339A>T (p.Ile447Phe) c.1258A>T (p.Ile420Phe) c.1123A>T (p.Ile375Phe) c.112A>T (p.Ile38Phe) | |
| 12 | g.101768106T>C | CA386301972 | GNPTAB | c.1339A>G (p.Ile447Val) c.1258A>G (p.Ile420Val) c.1123A>G (p.Ile375Val) c.112A>G (p.Ile38Val) | |
| 12 | g.101768106T>G | CA386301971 | GNPTAB | c.1339A>C (p.Ile447Leu) c.1258A>C (p.Ile420Leu) c.1123A>C (p.Ile375Leu) c.112A>C (p.Ile38Leu) | |
| 12 | g.101768107C>A | CA386301973 | GNPTAB | c.1338G>T (p.Trp446Cys) c.1257G>T (p.Trp419Cys) c.1122G>T (p.Trp374Cys) c.111G>T (p.Trp37Cys) | |
| 12 | g.101768107C>G | CA386301975 | GNPTAB | c.1338G>C (p.Trp446Cys) c.1257G>C (p.Trp419Cys) c.1122G>C (p.Trp374Cys) c.111G>C (p.Trp37Cys) | |
| 12 | g.101768107C>T | CA386301974 | GNPTAB | c.1338G>A (p.Trp446Ter) c.1257G>A (p.Trp419Ter) c.1122G>A (p.Trp374Ter) c.111G>A (p.Trp37Ter) | |
| 12 | g.101768108C>A | CA386301976 | GNPTAB | c.1337G>T (p.Trp446Leu) c.1256G>T (p.Trp419Leu) c.1121G>T (p.Trp374Leu) c.110G>T (p.Trp37Leu) | |
| 12 | g.101768108C>G | CA386301977 | GNPTAB | c.1337G>C (p.Trp446Ser) c.1256G>C (p.Trp419Ser) c.1121G>C (p.Trp374Ser) c.110G>C (p.Trp37Ser) | |
| 12 | g.101768108C>T | CA386301978 | GNPTAB | c.1337G>A (p.Trp446Ter) c.1256G>A (p.Trp419Ter) c.1121G>A (p.Trp374Ter) c.110G>A (p.Trp37Ter) | gnomAD v4 |
| 12 | g.101768109A>C | CA386301979 | GNPTAB | c.1336T>G (p.Trp446Gly) c.1255T>G (p.Trp419Gly) c.1120T>G (p.Trp374Gly) c.109T>G (p.Trp37Gly) | |
| 12 | g.101768109A>G | CA386301980 | GNPTAB | c.1336T>C (p.Trp446Arg) c.1255T>C (p.Trp419Arg) c.1120T>C (p.Trp374Arg) c.109T>C (p.Trp37Arg) | |
| 12 | g.101768109A>T | CA386301981 | GNPTAB | c.1336T>A (p.Trp446Arg) c.1255T>A (p.Trp419Arg) c.1120T>A (p.Trp374Arg) c.109T>A (p.Trp37Arg) | |
| 12 | g.101768110G>A | CA481320510 | GNPTAB | c.1335C>T (p.Ser445=) c.1254C>T (p.Ser418=) c.1119C>T (p.Ser373=) c.108C>T (p.Ser36=) | ClinVar |
| 12 | g.101768110G>C | CA481320511 | GNPTAB | c.1335C>G (p.Ser445=) c.1254C>G (p.Ser418=) c.1119C>G (p.Ser373=) c.108C>G (p.Ser36=) | |
| 12 | g.101768110G>T | CA481320512 | GNPTAB | c.1335C>A (p.Ser445=) c.1254C>A (p.Ser418=) c.1119C>A (p.Ser373=) c.108C>A (p.Ser36=) | |
| 12 | g.101768111G>A | CA242461268 | GNPTAB | c.1334C>T (p.Ser445Phe) c.1253C>T (p.Ser418Phe) c.1118C>T (p.Ser373Phe) c.107C>T (p.Ser36Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101768111G>C | CA6746651 | GNPTAB | c.1334C>G (p.Ser445Cys) c.1253C>G (p.Ser418Cys) c.1118C>G (p.Ser373Cys) c.107C>G (p.Ser36Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101768111G= | CA2058956986 | GNPTAB | c.1334C= (p.Ser445=) c.1253C= (p.Ser418=) c.1118C= (p.Ser373=) c.107C= (p.Ser36=) | |
| 12 | g.101768111G>T | CA386301982 | GNPTAB | c.1334C>A (p.Ser445Tyr) c.1253C>A (p.Ser418Tyr) c.1118C>A (p.Ser373Tyr) c.107C>A (p.Ser36Tyr) | |
| 12 | g.101768112A= | CA2058956987 | GNPTAB | c.1333T= (p.Ser445=) c.1252T= (p.Ser418=) c.1117T= (p.Ser373=) c.106T= (p.Ser36=) | |
| 12 | g.101768112A>C | CA386301983 | GNPTAB | c.1333T>G (p.Ser445Ala) c.1252T>G (p.Ser418Ala) c.1117T>G (p.Ser373Ala) c.106T>G (p.Ser36Ala) | gnomAD v4 |
| 12 | g.101768112A>G | CA242461273 | GNPTAB | c.1333T>C (p.Ser445Pro) c.1252T>C (p.Ser418Pro) c.1117T>C (p.Ser373Pro) c.106T>C (p.Ser36Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768112A>T | CA386301984 | GNPTAB | c.1333T>A (p.Ser445Thr) c.1252T>A (p.Ser418Thr) c.1117T>A (p.Ser373Thr) c.106T>A (p.Ser36Thr) | |
| 12 | g.101768113A= | CA2058956988 | GNPTAB | c.1332T= (p.Gly444=) c.1251T= (p.Gly417=) c.1116T= (p.Gly372=) c.105T= (p.Gly35=) | |
| 12 | g.101768113A>C | CA481320514 | GNPTAB | c.1332T>G (p.Gly444=) c.1251T>G (p.Gly417=) c.1116T>G (p.Gly372=) c.105T>G (p.Gly35=) | |
| 12 | g.101768113A>G | CA481320515 | GNPTAB | c.1332T>C (p.Gly444=) c.1251T>C (p.Gly417=) c.1116T>C (p.Gly372=) c.105T>C (p.Gly35=) | |
| 12 | g.101768113A>T | CA481320516 | GNPTAB | c.1332T>A (p.Gly444=) c.1251T>A (p.Gly417=) c.1116T>A (p.Gly372=) c.105T>A (p.Gly35=) | |
| 12 | g.101768114C>A | CA386301985 | GNPTAB | c.1331G>T (p.Gly444Val) c.1250G>T (p.Gly417Val) c.1115G>T (p.Gly372Val) c.104G>T (p.Gly35Val) | gnomAD v4 |
| 12 | g.101768114C>G | CA386301987 | GNPTAB | c.1331G>C (p.Gly444Ala) c.1250G>C (p.Gly417Ala) c.1115G>C (p.Gly372Ala) c.104G>C (p.Gly35Ala) | |
| 12 | g.101768114C>T | CA386301986 | GNPTAB | c.1331G>A (p.Gly444Asp) c.1250G>A (p.Gly417Asp) c.1115G>A (p.Gly372Asp) c.104G>A (p.Gly35Asp) | |
| 12 | g.101768115dup | CA343344 | GNPTAB | c.1331dup (p.Ser445PhefsTer4) c.1250dup (p.Ser418PhefsTer4) c.1115dup (p.Ser373PhefsTer4) c.104dup (p.Ser36PhefsTer4) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101768115C>A | CA386301988 | GNPTAB | c.1330G>T (p.Gly444Cys) c.1249G>T (p.Gly417Cys) c.1114G>T (p.Gly372Cys) c.103G>T (p.Gly35Cys) | |
| 12 | g.101768115C>G | CA386301989 | GNPTAB | c.1330G>C (p.Gly444Arg) c.1249G>C (p.Gly417Arg) c.1114G>C (p.Gly372Arg) c.103G>C (p.Gly35Arg) | |
| 12 | g.101768115C>T | CA386301990 | GNPTAB | c.1330G>A (p.Gly444Ser) c.1249G>A (p.Gly417Ser) c.1114G>A (p.Gly372Ser) c.103G>A (p.Gly35Ser) | |
| 12 | g.101768116T>A | CA481320523 | GNPTAB | c.1329A>T (p.Pro443=) c.1248A>T (p.Pro416=) c.1113A>T (p.Pro371=) c.102A>T (p.Pro34=) | |
| 12 | g.101768116T>C | CA242461281 | GNPTAB | c.1329A>G (p.Pro443=) c.1248A>G (p.Pro416=) c.1113A>G (p.Pro371=) c.102A>G (p.Pro34=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101768116T>G | CA481320524 | GNPTAB | c.1329A>C (p.Pro443=) c.1248A>C (p.Pro416=) c.1113A>C (p.Pro371=) c.102A>C (p.Pro34=) | |
| 12 | g.101768116T= | CA2058956989 | GNPTAB | c.1329A= (p.Pro443=) c.1248A= (p.Pro416=) c.1113A= (p.Pro371=) c.102A= (p.Pro34=) | |
| 12 | g.101768117G>A | CA386301991 | GNPTAB | c.1328C>T (p.Pro443Leu) c.1247C>T (p.Pro416Leu) c.1112C>T (p.Pro371Leu) c.101C>T (p.Pro34Leu) | gnomAD v4 |
| 12 | g.101768117G>C | CA386301992 | GNPTAB | c.1328C>G (p.Pro443Arg) c.1247C>G (p.Pro416Arg) c.1112C>G (p.Pro371Arg) c.101C>G (p.Pro34Arg) | |
| 12 | g.101768117G>T | CA386301993 | GNPTAB | c.1328C>A (p.Pro443Gln) c.1247C>A (p.Pro416Gln) c.1112C>A (p.Pro371Gln) c.101C>A (p.Pro34Gln) | |
| 12 | g.101768118G>A | CA386301994 | GNPTAB | c.1327C>T (p.Pro443Ser) c.1246C>T (p.Pro416Ser) c.1111C>T (p.Pro371Ser) c.100C>T (p.Pro34Ser) | |
| 12 | g.101768118G>C | CA386301995 | GNPTAB | c.1327C>G (p.Pro443Ala) c.1246C>G (p.Pro416Ala) c.1111C>G (p.Pro371Ala) c.100C>G (p.Pro34Ala) | |
| 12 | g.101768118G>T | CA386301996 | GNPTAB | c.1327C>A (p.Pro443Thr) c.1246C>A (p.Pro416Thr) c.1111C>A (p.Pro371Thr) c.100C>A (p.Pro34Thr) | |
| 12 | g.101768119G>A | CA481320530 | GNPTAB | c.1326C>T (p.Cys442=) c.1245C>T (p.Cys415=) c.1110C>T (p.Cys370=) c.99C>T (p.Cys33=) | |
| 12 | g.101768119G>C | CA386301997 | GNPTAB | c.1326C>G (p.Cys442Trp) c.1245C>G (p.Cys415Trp) c.1110C>G (p.Cys370Trp) c.99C>G (p.Cys33Trp) | |
| 12 | g.101768119G>T | CA386301998 | GNPTAB | c.1326C>A (p.Cys442Ter) c.1245C>A (p.Cys415Ter) c.1110C>A (p.Cys370Ter) c.99C>A (p.Cys33Ter) | |
| 12 | g.101768120C>A | CA386301999 | GNPTAB | c.1325G>T (p.Cys442Phe) c.1244G>T (p.Cys415Phe) c.1109G>T (p.Cys370Phe) c.98G>T (p.Cys33Phe) | |
| 12 | g.101768120C= | CA2058956990 | GNPTAB | c.1325G= (p.Cys442=) c.1244G= (p.Cys415=) c.1109G= (p.Cys370=) c.98G= (p.Cys33=) | |
| 12 | g.101768120C>G | CA386302000 | GNPTAB | c.1325G>C (p.Cys442Ser) c.1244G>C (p.Cys415Ser) c.1109G>C (p.Cys370Ser) c.98G>C (p.Cys33Ser) | |
| 12 | g.101768120C>T | CA343343 | GNPTAB | c.1325G>A (p.Cys442Tyr) c.1244G>A (p.Cys415Tyr) c.1109G>A (p.Cys370Tyr) c.98G>A (p.Cys33Tyr) | ClinVar dbSNP |
| 12 | g.101768121A>C | CA386302001 | GNPTAB | c.1324T>G (p.Cys442Gly) c.1243T>G (p.Cys415Gly) c.1108T>G (p.Cys370Gly) c.97T>G (p.Cys33Gly) | |
| 12 | g.101768121A>G | CA386302002 | GNPTAB | c.1324T>C (p.Cys442Arg) c.1243T>C (p.Cys415Arg) c.1108T>C (p.Cys370Arg) c.97T>C (p.Cys33Arg) | |
| 12 | g.101768121A>T | CA386302003 | GNPTAB | c.1324T>A (p.Cys442Ser) c.1243T>A (p.Cys415Ser) c.1108T>A (p.Cys370Ser) c.97T>A (p.Cys33Ser) | |
| 12 | g.101768122G>A | CA481320534 | GNPTAB | c.1323C>T (p.Gly441=) c.1242C>T (p.Gly414=) c.1107C>T (p.Gly369=) c.96C>T (p.Gly32=) | |
| 12 | g.101768122G>C | CA481320535 | GNPTAB | c.1323C>G (p.Gly441=) c.1242C>G (p.Gly414=) c.1107C>G (p.Gly369=) c.96C>G (p.Gly32=) | |
| 12 | g.101768122G>T | CA481320536 | GNPTAB | c.1323C>A (p.Gly441=) c.1242C>A (p.Gly414=) c.1107C>A (p.Gly369=) c.96C>A (p.Gly32=) | |
| 12 | g.101768123C>A | CA386302004 | GNPTAB | c.1322G>T (p.Gly441Val) c.1241G>T (p.Gly414Val) c.1106G>T (p.Gly369Val) c.95G>T (p.Gly32Val) | gnomAD v4 |
| 12 | g.101768123C>G | CA386302005 | GNPTAB | c.1322G>C (p.Gly441Ala) c.1241G>C (p.Gly414Ala) c.1106G>C (p.Gly369Ala) c.95G>C (p.Gly32Ala) | |
| 12 | g.101768123C>T | CA386302006 | GNPTAB | c.1322G>A (p.Gly441Asp) c.1241G>A (p.Gly414Asp) c.1106G>A (p.Gly369Asp) c.95G>A (p.Gly32Asp) | |
| 12 | g.101768124C>A | CA386302007 | GNPTAB | c.1321G>T (p.Gly441Cys) c.1240G>T (p.Gly414Cys) c.1105G>T (p.Gly369Cys) c.94G>T (p.Gly32Cys) | |
| 12 | g.101768124C>G | CA386302008 | GNPTAB | c.1321G>C (p.Gly441Arg) c.1240G>C (p.Gly414Arg) c.1105G>C (p.Gly369Arg) c.94G>C (p.Gly32Arg) | |
| 12 | g.101768124C>T | CA386302009 | GNPTAB | c.1321G>A (p.Gly441Ser) c.1240G>A (p.Gly414Ser) c.1105G>A (p.Gly369Ser) c.94G>A (p.Gly32Ser) | |
| 12 | g.101768125C>A | CA386302011 | GNPTAB | c.1320G>T (p.Glu440Asp) c.1239G>T (p.Glu413Asp) c.1104G>T (p.Glu368Asp) c.93G>T (p.Glu31Asp) | |
| 12 | g.101768125C>G | CA386302010 | GNPTAB | c.1320G>C (p.Glu440Asp) c.1239G>C (p.Glu413Asp) c.1104G>C (p.Glu368Asp) c.93G>C (p.Glu31Asp) | |
| 12 | g.101768125C>T | CA481320545 | GNPTAB | c.1320G>A (p.Glu440=) c.1239G>A (p.Glu413=) c.1104G>A (p.Glu368=) c.93G>A (p.Glu31=) | |
| 12 | g.101768126T>A | CA386302012 | GNPTAB | c.1319A>T (p.Glu440Val) c.1238A>T (p.Glu413Val) c.1103A>T (p.Glu368Val) c.92A>T (p.Glu31Val) | |
| 12 | g.101768126T>C | CA386302013 | GNPTAB | c.1319A>G (p.Glu440Gly) c.1238A>G (p.Glu413Gly) c.1103A>G (p.Glu368Gly) c.92A>G (p.Glu31Gly) | |
| 12 | g.101768126T>G | CA386302015 | GNPTAB | c.1319A>C (p.Glu440Ala) c.1238A>C (p.Glu413Ala) c.1103A>C (p.Glu368Ala) c.92A>C (p.Glu31Ala) | |
| 12 | g.101768127C>A | CA386302016 | GNPTAB | c.1318G>T (p.Glu440Ter) c.1237G>T (p.Glu413Ter) c.1102G>T (p.Glu368Ter) c.91G>T (p.Glu31Ter) | |
| 12 | g.101768127C= | CA2058956991 | GNPTAB | c.1318G= (p.Glu440=) c.1237G= (p.Glu413=) c.1102G= (p.Glu368=) c.91G= (p.Glu31=) | |
| 12 | g.101768127C>G | CA386302017 | GNPTAB | c.1318G>C (p.Glu440Gln) c.1237G>C (p.Glu413Gln) c.1102G>C (p.Glu368Gln) c.91G>C (p.Glu31Gln) | |
| 12 | g.101768127C>T | CA386302018 | GNPTAB | c.1318G>A (p.Glu440Lys) c.1237G>A (p.Glu413Lys) c.1102G>A (p.Glu368Lys) c.91G>A (p.Glu31Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.101768128G>A | CA6746652 | GNPTAB | c.1317C>T (p.Ala439=) c.1236C>T (p.Ala412=) c.1101C>T (p.Ala367=) c.90C>T (p.Ala30=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768128G>C | CA481320550 | GNPTAB | c.1317C>G (p.Ala439=) c.1236C>G (p.Ala412=) c.1101C>G (p.Ala367=) c.90C>G (p.Ala30=) | |
| 12 | g.101768128G= | CA2058956992 | GNPTAB | c.1317C= (p.Ala439=) c.1236C= (p.Ala412=) c.1101C= (p.Ala367=) c.90C= (p.Ala30=) | |
| 12 | g.101768128G>T | CA481320548 | GNPTAB | c.1317C>A (p.Ala439=) c.1236C>A (p.Ala412=) c.1101C>A (p.Ala367=) c.90C>A (p.Ala30=) | |
| 12 | g.101768129G>A | CA386302019 | GNPTAB | c.1316C>T (p.Ala439Val) c.1235C>T (p.Ala412Val) c.1100C>T (p.Ala367Val) c.89C>T (p.Ala30Val) | |
| 12 | g.101768129G>C | CA386302020 | GNPTAB | c.1316C>G (p.Ala439Gly) c.1235C>G (p.Ala412Gly) c.1100C>G (p.Ala367Gly) c.89C>G (p.Ala30Gly) | |
| 12 | g.101768129G>T | CA386302021 | GNPTAB | c.1316C>A (p.Ala439Asp) c.1235C>A (p.Ala412Asp) c.1100C>A (p.Ala367Asp) c.89C>A (p.Ala30Asp) | |
| 12 | g.101768130C>A | CA386302023 | GNPTAB | c.1315G>T (p.Ala439Ser) c.1234G>T (p.Ala412Ser) c.1099G>T (p.Ala367Ser) c.88G>T (p.Ala30Ser) | |
| 12 | g.101768130C>G | CA386302024 | GNPTAB | c.1315G>C (p.Ala439Pro) c.1234G>C (p.Ala412Pro) c.1099G>C (p.Ala367Pro) c.88G>C (p.Ala30Pro) | |
| 12 | g.101768130C>T | CA386302025 | GNPTAB | c.1315G>A (p.Ala439Thr) c.1234G>A (p.Ala412Thr) c.1099G>A (p.Ala367Thr) c.88G>A (p.Ala30Thr) | gnomAD v4 |
| 12 | g.101768132_101768133del | CA2620450466 | GNPTAB | c.1314_1315del (p.Ala439ArgfsTer9) c.1233_1234del (p.Ala412ArgfsTer9) c.1098_1099del (p.Ala367ArgfsTer9) c.87_88del (p.Ala30ArgfsTer9) | gnomAD v4 |
| 12 | g.101768131A>C | CA386302026 | GNPTAB | c.1314T>G (p.Cys438Trp) c.1233T>G (p.Cys411Trp) c.1098T>G (p.Cys366Trp) c.87T>G (p.Cys29Trp) | |
| 12 | g.101768131A>G | CA481320558 | GNPTAB | c.1314T>C (p.Cys438=) c.1233T>C (p.Cys411=) c.1098T>C (p.Cys366=) c.87T>C (p.Cys29=) | |
| 12 | g.101768131A>T | CA386302027 | GNPTAB | c.1314T>A (p.Cys438Ter) c.1233T>A (p.Cys411Ter) c.1098T>A (p.Cys366Ter) c.87T>A (p.Cys29Ter) | |
| 12 | g.101768132C>A | CA386302029 | GNPTAB | c.1313G>T (p.Cys438Phe) c.1232G>T (p.Cys411Phe) c.1097G>T (p.Cys366Phe) c.86G>T (p.Cys29Phe) | |
| 12 | g.101768132C>G | CA386302032 | GNPTAB | c.1313G>C (p.Cys438Ser) c.1232G>C (p.Cys411Ser) c.1097G>C (p.Cys366Ser) c.86G>C (p.Cys29Ser) | |
| 12 | g.101768132C>T | CA386302031 | GNPTAB | c.1313G>A (p.Cys438Tyr) c.1232G>A (p.Cys411Tyr) c.1097G>A (p.Cys366Tyr) c.86G>A (p.Cys29Tyr) | gnomAD v4 |
| 12 | g.101768133A>C | CA386302033 | GNPTAB | c.1312T>G (p.Cys438Gly) c.1231T>G (p.Cys411Gly) c.1096T>G (p.Cys366Gly) c.85T>G (p.Cys29Gly) | |
| 12 | g.101768133A>G | CA386302035 | GNPTAB | c.1312T>C (p.Cys438Arg) c.1231T>C (p.Cys411Arg) c.1096T>C (p.Cys366Arg) c.85T>C (p.Cys29Arg) | |
| 12 | g.101768133A>T | CA386302037 | GNPTAB | c.1312T>A (p.Cys438Ser) c.1231T>A (p.Cys411Ser) c.1096T>A (p.Cys366Ser) c.85T>A (p.Cys29Ser) | |
| 12 | g.101768134G>A | CA481320561 | GNPTAB | c.1311C>T (p.Asn437=) c.1230C>T (p.Asn410=) c.1095C>T (p.Asn365=) c.84C>T (p.Asn28=) | ClinVar dbSNP |
| 12 | g.101768134G>C | CA386302038 | GNPTAB | c.1311C>G (p.Asn437Lys) c.1230C>G (p.Asn410Lys) c.1095C>G (p.Asn365Lys) c.84C>G (p.Asn28Lys) | |
| 12 | g.101768134G= | CA2058956993 | GNPTAB | c.1311C= (p.Asn437=) c.1230C= (p.Asn410=) c.1095C= (p.Asn365=) c.84C= (p.Asn28=) | |
| 12 | g.101768134G>T | CA386302040 | GNPTAB | c.1311C>A (p.Asn437Lys) c.1230C>A (p.Asn410Lys) c.1095C>A (p.Asn365Lys) c.84C>A (p.Asn28Lys) | |
| 12 | g.101768135T>A | CA386302042 | GNPTAB | c.1310A>T (p.Asn437Ile) c.1229A>T (p.Asn410Ile) c.1094A>T (p.Asn365Ile) c.83A>T (p.Asn28Ile) | |
| 12 | g.101768135T>C | CA386302044 | GNPTAB | c.1310A>G (p.Asn437Ser) c.1229A>G (p.Asn410Ser) c.1094A>G (p.Asn365Ser) c.83A>G (p.Asn28Ser) | gnomAD v4 |
| 12 | g.101768135T>G | CA386302045 | GNPTAB | c.1310A>C (p.Asn437Thr) c.1229A>C (p.Asn410Thr) c.1094A>C (p.Asn365Thr) c.83A>C (p.Asn28Thr) | |
| 12 | g.101768136T>A | CA386302047 | GNPTAB | c.1309A>T (p.Asn437Tyr) c.1228A>T (p.Asn410Tyr) c.1093A>T (p.Asn365Tyr) c.82A>T (p.Asn28Tyr) | |
| 12 | g.101768136T>C | CA386302049 | GNPTAB | c.1309A>G (p.Asn437Asp) c.1228A>G (p.Asn410Asp) c.1093A>G (p.Asn365Asp) c.82A>G (p.Asn28Asp) | |
| 12 | g.101768136T>G | CA386302050 | GNPTAB | c.1309A>C (p.Asn437His) c.1228A>C (p.Asn410His) c.1093A>C (p.Asn365His) c.82A>C (p.Asn28His) | |
| 12 | g.101768137T>A | CA481320565 | GNPTAB | c.1308A>T (p.Pro436=) c.1227A>T (p.Pro409=) c.1092A>T (p.Pro364=) c.81A>T (p.Pro27=) | |
| 12 | g.101768137T>C | CA6746653 | GNPTAB | c.1308A>G (p.Pro436=) c.1227A>G (p.Pro409=) c.1092A>G (p.Pro364=) c.81A>G (p.Pro27=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101768137T>G | CA481320569 | GNPTAB | c.1308A>C (p.Pro436=) c.1227A>C (p.Pro409=) c.1092A>C (p.Pro364=) c.81A>C (p.Pro27=) | |
| 12 | g.101768137T= | CA2058956994 | GNPTAB | c.1308A= (p.Pro436=) c.1227A= (p.Pro409=) c.1092A= (p.Pro364=) c.81A= (p.Pro27=) | |
| 12 | g.101768138G>A | CA386302056 | GNPTAB | c.1307C>T (p.Pro436Leu) c.1226C>T (p.Pro409Leu) c.1091C>T (p.Pro364Leu) c.80C>T (p.Pro27Leu) | |
| 12 | g.101768138G>C | CA386302053 | GNPTAB | c.1307C>G (p.Pro436Arg) c.1226C>G (p.Pro409Arg) c.1091C>G (p.Pro364Arg) c.80C>G (p.Pro27Arg) | |
| 12 | g.101768138G>T | CA386302055 | GNPTAB | c.1307C>A (p.Pro436Gln) c.1226C>A (p.Pro409Gln) c.1091C>A (p.Pro364Gln) c.80C>A (p.Pro27Gln) | |
| 12 | g.101768139G>A | CA386302058 | GNPTAB | c.1306C>T (p.Pro436Ser) c.1225C>T (p.Pro409Ser) c.1090C>T (p.Pro364Ser) c.79C>T (p.Pro27Ser) | |
| 12 | g.101768139G>C | CA386302059 | GNPTAB | c.1306C>G (p.Pro436Ala) c.1225C>G (p.Pro409Ala) c.1090C>G (p.Pro364Ala) c.79C>G (p.Pro27Ala) | |
| 12 | g.101768139G>T | CA386302061 | GNPTAB | c.1306C>A (p.Pro436Thr) c.1225C>A (p.Pro409Thr) c.1090C>A (p.Pro364Thr) c.79C>A (p.Pro27Thr) | |
| 12 | g.101768140C>A | CA481320573 | GNPTAB | c.1305G>T (p.Val435=) c.1224G>T (p.Val408=) c.1089G>T (p.Val363=) c.78G>T (p.Val26=) | |
| 12 | g.101768140C>G | CA481320574 | GNPTAB | c.1305G>C (p.Val435=) c.1224G>C (p.Val408=) c.1089G>C (p.Val363=) c.78G>C (p.Val26=) | |
| 12 | g.101768140C>T | CA481320575 | GNPTAB | c.1305G>A (p.Val435=) c.1224G>A (p.Val408=) c.1089G>A (p.Val363=) c.78G>A (p.Val26=) | |
| 12 | g.101768141A>C | CA386302063 | GNPTAB | c.1304T>G (p.Val435Gly) c.1223T>G (p.Val408Gly) c.1088T>G (p.Val363Gly) c.77T>G (p.Val26Gly) | |
| 12 | g.101768141A>G | CA386302064 | GNPTAB | c.1304T>C (p.Val435Ala) c.1223T>C (p.Val408Ala) c.1088T>C (p.Val363Ala) c.77T>C (p.Val26Ala) | |
| 12 | g.101768141A>T | CA386302066 | GNPTAB | c.1304T>A (p.Val435Glu) c.1223T>A (p.Val408Glu) c.1088T>A (p.Val363Glu) c.77T>A (p.Val26Glu) | |
| 12 | g.101768142C>A | CA386302068 | GNPTAB | c.1303G>T (p.Val435Leu) c.1222G>T (p.Val408Leu) c.1087G>T (p.Val363Leu) c.76G>T (p.Val26Leu) | |
| 12 | g.101768142C>G | CA386302069 | GNPTAB | c.1303G>C (p.Val435Leu) c.1222G>C (p.Val408Leu) c.1087G>C (p.Val363Leu) c.76G>C (p.Val26Leu) | |
| 12 | g.101768142C>T | CA386302071 | GNPTAB | c.1303G>A (p.Val435Met) c.1222G>A (p.Val408Met) c.1087G>A (p.Val363Met) c.76G>A (p.Val26Met) | |
| 12 | g.101768143A= | CA2058956995 | GNPTAB | c.1302T= (p.Pro434=) c.1221T= (p.Pro407=) c.1086T= (p.Pro362=) c.75T= (p.Pro25=) | |
| 12 | g.101768143A>C | CA6746654 | GNPTAB | c.1302T>G (p.Pro434=) c.1221T>G (p.Pro407=) c.1086T>G (p.Pro362=) c.75T>G (p.Pro25=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768143A>G | CA6746655 | GNPTAB | c.1302T>C (p.Pro434=) c.1221T>C (p.Pro407=) c.1086T>C (p.Pro362=) c.75T>C (p.Pro25=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768143A>T | CA481320580 | GNPTAB | c.1302T>A (p.Pro434=) c.1221T>A (p.Pro407=) c.1086T>A (p.Pro362=) c.75T>A (p.Pro25=) | |
| 12 | g.101768144G>A | CA386302078 | GNPTAB | c.1301C>T (p.Pro434Leu) c.1220C>T (p.Pro407Leu) c.1085C>T (p.Pro362Leu) c.74C>T (p.Pro25Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101768144G>C | CA386302077 | GNPTAB | c.1301C>G (p.Pro434Arg) c.1220C>G (p.Pro407Arg) c.1085C>G (p.Pro362Arg) c.74C>G (p.Pro25Arg) | |
| 12 | g.101768144G= | CA2058956996 | GNPTAB | c.1301C= (p.Pro434=) c.1220C= (p.Pro407=) c.1085C= (p.Pro362=) c.74C= (p.Pro25=) | |
| 12 | g.101768144G>T | CA386302075 | GNPTAB | c.1301C>A (p.Pro434His) c.1220C>A (p.Pro407His) c.1085C>A (p.Pro362His) c.74C>A (p.Pro25His) | |
| 12 | g.101768144_101768145del | CA2797214651 | GNPTAB | c.1300_1301del (p.Pro434CysfsTer14) c.1219_1220del (p.Pro407CysfsTer14) c.1084_1085del (p.Pro362CysfsTer14) c.73_74del (p.Pro25CysfsTer14) | |
| 12 | g.101768145G>A | CA6746656 | GNPTAB | c.1300C>T (p.Pro434Ser) c.1219C>T (p.Pro407Ser) c.1084C>T (p.Pro362Ser) c.73C>T (p.Pro25Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768145G>C | CA386302081 | GNPTAB | c.1300C>G (p.Pro434Ala) c.1219C>G (p.Pro407Ala) c.1084C>G (p.Pro362Ala) c.73C>G (p.Pro25Ala) | gnomAD v4 |
| 12 | g.101768145G= | CA2058956997 | GNPTAB | c.1300C= (p.Pro434=) c.1219C= (p.Pro407=) c.1084C= (p.Pro362=) c.73C= (p.Pro25=) | |
| 12 | g.101768145G>T | CA386302082 | GNPTAB | c.1300C>A (p.Pro434Thr) c.1219C>A (p.Pro407Thr) c.1084C>A (p.Pro362Thr) c.73C>A (p.Pro25Thr) | |
| 12 | g.101768146C>A | CA386302084 | GNPTAB | c.1299G>T (p.Trp433Cys) c.1218G>T (p.Trp406Cys) c.1083G>T (p.Trp361Cys) c.72G>T (p.Trp24Cys) | |
| 12 | g.101768146C>G | CA386302086 | GNPTAB | c.1299G>C (p.Trp433Cys) c.1218G>C (p.Trp406Cys) c.1083G>C (p.Trp361Cys) c.72G>C (p.Trp24Cys) | |
| 12 | g.101768146C>T | CA386302087 | GNPTAB | c.1299G>A (p.Trp433Ter) c.1218G>A (p.Trp406Ter) c.1083G>A (p.Trp361Ter) c.72G>A (p.Trp24Ter) | |
| 12 | g.101768147C>A | CA386302089 | GNPTAB | c.1298G>T (p.Trp433Leu) c.1217G>T (p.Trp406Leu) c.1082G>T (p.Trp361Leu) c.71G>T (p.Trp24Leu) | dbSNP |
| 12 | g.101768147C= | CA2058956998 | GNPTAB | c.1298G= (p.Trp433=) c.1217G= (p.Trp406=) c.1082G= (p.Trp361=) c.71G= (p.Trp24=) | |
| 12 | g.101768147C>G | CA386302091 | GNPTAB | c.1298G>C (p.Trp433Ser) c.1217G>C (p.Trp406Ser) c.1082G>C (p.Trp361Ser) c.71G>C (p.Trp24Ser) | |
| 12 | g.101768147C>T | CA223752 | GNPTAB | c.1298G>A (p.Trp433Ter) c.1217G>A (p.Trp406Ter) c.1082G>A (p.Trp361Ter) c.71G>A (p.Trp24Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101768148A= | CA2058956999 | GNPTAB | c.1297T= (p.Trp433=) c.1216T= (p.Trp406=) c.1081T= (p.Trp361=) c.70T= (p.Trp24=) | |
| 12 | g.101768148A>C | CA386302093 | GNPTAB | c.1297T>G (p.Trp433Gly) c.1216T>G (p.Trp406Gly) c.1081T>G (p.Trp361Gly) c.70T>G (p.Trp24Gly) | |
| 12 | g.101768148A>G | CA386302095 | GNPTAB | c.1297T>C (p.Trp433Arg) c.1216T>C (p.Trp406Arg) c.1081T>C (p.Trp361Arg) c.70T>C (p.Trp24Arg) | dbSNP gnomAD v4 |
| 12 | g.101768148A>T | CA386302097 | GNPTAB | c.1297T>A (p.Trp433Arg) c.1216T>A (p.Trp406Arg) c.1081T>A (p.Trp361Arg) c.70T>A (p.Trp24Arg) | |
| 12 | g.101768149T>A | CA481320594 | GNPTAB | c.1296A>T (p.Thr432=) c.1215A>T (p.Thr405=) c.1080A>T (p.Thr360=) c.69A>T (p.Thr23=) | |
| 12 | g.101768149T>C | CA6746657 | GNPTAB | c.1296A>G (p.Thr432=) c.1215A>G (p.Thr405=) c.1080A>G (p.Thr360=) c.69A>G (p.Thr23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101768149T>G | CA481320593 | GNPTAB | c.1296A>C (p.Thr432=) c.1215A>C (p.Thr405=) c.1080A>C (p.Thr360=) c.69A>C (p.Thr23=) | |
| 12 | g.101768149T= | CA2058957000 | GNPTAB | c.1296A= (p.Thr432=) c.1215A= (p.Thr405=) c.1080A= (p.Thr360=) c.69A= (p.Thr23=) | |
| 12 | g.101768150G>A | CA386302103 | GNPTAB | c.1295C>T (p.Thr432Ile) c.1214C>T (p.Thr405Ile) c.1079C>T (p.Thr360Ile) c.68C>T (p.Thr23Ile) | gnomAD v4 |
| 12 | g.101768150G>C | CA386302099 | GNPTAB | c.1295C>G (p.Thr432Arg) c.1214C>G (p.Thr405Arg) c.1079C>G (p.Thr360Arg) c.68C>G (p.Thr23Arg) | |
| 12 | g.101768150G>T | CA386302101 | GNPTAB | c.1295C>A (p.Thr432Lys) c.1214C>A (p.Thr405Lys) c.1079C>A (p.Thr360Lys) c.68C>A (p.Thr23Lys) | |
| 12 | g.101768151T>A | CA386302105 | GNPTAB | c.1294A>T (p.Thr432Ser) c.1213A>T (p.Thr405Ser) c.1078A>T (p.Thr360Ser) c.67A>T (p.Thr23Ser) | |
| 12 | g.101768151T>C | CA386302107 | GNPTAB | c.1294A>G (p.Thr432Ala) c.1213A>G (p.Thr405Ala) c.1078A>G (p.Thr360Ala) c.67A>G (p.Thr23Ala) | |
| 12 | g.101768151T>G | CA386302108 | GNPTAB | c.1294A>C (p.Thr432Pro) c.1213A>C (p.Thr405Pro) c.1078A>C (p.Thr360Pro) c.67A>C (p.Thr23Pro) | |
| 12 | g.101768152C>A | CA386302110 | GNPTAB | c.1293G>T (p.Leu431Phe) c.1212G>T (p.Leu404Phe) c.1077G>T (p.Leu359Phe) c.66G>T (p.Leu22Phe) | |
| 12 | g.101768152C>G | CA386302111 | GNPTAB | c.1293G>C (p.Leu431Phe) c.1212G>C (p.Leu404Phe) c.1077G>C (p.Leu359Phe) c.66G>C (p.Leu22Phe) | gnomAD v4 |
| 12 | g.101768152C>T | CA481320598 | GNPTAB | c.1293G>A (p.Leu431=) c.1212G>A (p.Leu404=) c.1077G>A (p.Leu359=) c.66G>A (p.Leu22=) | ClinVar dbSNP |
| 12 | g.101768153A>C | CA386302113 | GNPTAB | c.1292T>G (p.Leu431Trp) c.1211T>G (p.Leu404Trp) c.1076T>G (p.Leu359Trp) c.65T>G (p.Leu22Trp) | |
| 12 | g.101768153A>G | CA386302115 | GNPTAB | c.1292T>C (p.Leu431Ser) c.1211T>C (p.Leu404Ser) c.1076T>C (p.Leu359Ser) c.65T>C (p.Leu22Ser) | |
| 12 | g.101768153A>T | CA386302116 | GNPTAB | c.1292T>A (p.Leu431Ter) c.1211T>A (p.Leu404Ter) c.1076T>A (p.Leu359Ter) c.65T>A (p.Leu22Ter) | ClinVar dbSNP |
| 12 | g.101768154A>C | CA386302118 | GNPTAB | c.1291T>G (p.Leu431Val) c.1210T>G (p.Leu404Val) c.1075T>G (p.Leu359Val) c.64T>G (p.Leu22Val) | |
| 12 | g.101768154A>G | CA481320601 | GNPTAB | c.1291T>C (p.Leu431=) c.1210T>C (p.Leu404=) c.1075T>C (p.Leu359=) c.64T>C (p.Leu22=) | gnomAD v4 |
| 12 | g.101768154A>T | CA386302120 | GNPTAB | c.1291T>A (p.Leu431Met) c.1210T>A (p.Leu404Met) c.1075T>A (p.Leu359Met) c.64T>A (p.Leu22Met) | |
| 12 | g.101768155A= | CA2058957001 | GNPTAB | c.1290T= (p.Tyr430=) c.1209T= (p.Tyr403=) c.1074T= (p.Tyr358=) c.63T= (p.Tyr21=) | |
| 12 | g.101768155A>C | CA386302122 | GNPTAB | c.1290T>G (p.Tyr430Ter) c.1209T>G (p.Tyr403Ter) c.1074T>G (p.Tyr358Ter) c.63T>G (p.Tyr21Ter) | |
| 12 | g.101768155A>G | CA481320602 | GNPTAB | c.1290T>C (p.Tyr430=) c.1209T>C (p.Tyr403=) c.1074T>C (p.Tyr358=) c.63T>C (p.Tyr21=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101768155A>T | CA386302123 | GNPTAB | c.1290T>A (p.Tyr430Ter) c.1209T>A (p.Tyr403Ter) c.1074T>A (p.Tyr358Ter) c.63T>A (p.Tyr21Ter) | |
| 12 | g.101768156T>A | CA386302126 | GNPTAB | c.1289A>T (p.Tyr430Phe) c.1208A>T (p.Tyr403Phe) c.1073A>T (p.Tyr358Phe) c.62A>T (p.Tyr21Phe) | |
| 12 | g.101768156T>C | CA386302125 | GNPTAB | c.1289A>G (p.Tyr430Cys) c.1208A>G (p.Tyr403Cys) c.1073A>G (p.Tyr358Cys) c.62A>G (p.Tyr21Cys) | |
| 12 | g.101768156T>G | CA386302124 | GNPTAB | c.1289A>C (p.Tyr430Ser) c.1208A>C (p.Tyr403Ser) c.1073A>C (p.Tyr358Ser) c.62A>C (p.Tyr21Ser) | |
| 12 | g.101768157A>C | CA386302128 | GNPTAB | c.1288T>G (p.Tyr430Asp) c.1207T>G (p.Tyr403Asp) c.1072T>G (p.Tyr358Asp) c.61T>G (p.Tyr21Asp) | |
| 12 | g.101768157A>G | CA386302127 | GNPTAB | c.1288T>C (p.Tyr430His) c.1207T>C (p.Tyr403His) c.1072T>C (p.Tyr358His) c.61T>C (p.Tyr21His) | |
| 12 | g.101768157A>T | CA386302130 | GNPTAB | c.1288T>A (p.Tyr430Asn) c.1207T>A (p.Tyr403Asn) c.1072T>A (p.Tyr358Asn) c.61T>A (p.Tyr21Asn) | |
| 12 | g.101768158A>C | CA481320603 | GNPTAB | c.1287T>G (p.Val429=) c.1206T>G (p.Val402=) c.1071T>G (p.Val357=) c.60T>G (p.Val20=) | |
| 12 | g.101768158A>G | CA481320604 | GNPTAB | c.1287T>C (p.Val429=) c.1206T>C (p.Val402=) c.1071T>C (p.Val357=) c.60T>C (p.Val20=) | |
| 12 | g.101768158A>T | CA481320605 | GNPTAB | c.1287T>A (p.Val429=) c.1206T>A (p.Val402=) c.1071T>A (p.Val357=) c.60T>A (p.Val20=) | |
| 12 | g.101768159A>C | CA386302132 | GNPTAB | c.1286T>G (p.Val429Gly) c.1205T>G (p.Val402Gly) c.1070T>G (p.Val357Gly) c.59T>G (p.Val20Gly) | |
| 12 | g.101768159A>G | CA386302135 | GNPTAB | c.1286T>C (p.Val429Ala) c.1205T>C (p.Val402Ala) c.1070T>C (p.Val357Ala) c.59T>C (p.Val20Ala) | |
| 12 | g.101768159A>T | CA386302134 | GNPTAB | c.1286T>A (p.Val429Asp) c.1205T>A (p.Val402Asp) c.1070T>A (p.Val357Asp) c.59T>A (p.Val20Asp) | |
| 12 | g.101768160C>A | CA386302137 | GNPTAB | c.1285G>T (p.Val429Phe) c.1204G>T (p.Val402Phe) c.1069G>T (p.Val357Phe) c.58G>T (p.Val20Phe) | |
| 12 | g.101768160C>G | CA386302138 | GNPTAB | c.1285G>C (p.Val429Leu) c.1204G>C (p.Val402Leu) c.1069G>C (p.Val357Leu) c.58G>C (p.Val20Leu) | |
| 12 | g.101768160C>T | CA386302140 | GNPTAB | c.1285G>A (p.Val429Ile) c.1204G>A (p.Val402Ile) c.1069G>A (p.Val357Ile) c.58G>A (p.Val20Ile) | gnomAD v4 |
| 12 | g.101768161C>A | CA386302142 | GNPTAB | c.1285-1G>T (n.1285-1G>T) c.1204-1G>T (n.1204-1G>T) c.1069-1G>T (n.1069-1G>T) c.58-1G>T (n.58-1G>T) | |
| 12 | g.101768161C>G | CA386302144 | GNPTAB | c.1285-1G>C (n.1285-1G>C) c.1204-1G>C (n.1204-1G>C) c.1069-1G>C (n.1069-1G>C) c.58-1G>C (n.58-1G>C) | |
| 12 | g.101768161C>T | CA386302146 | GNPTAB | c.1285-1G>A (n.1285-1G>A) c.1204-1G>A (n.1204-1G>A) c.1069-1G>A (n.1069-1G>A) c.58-1G>A (n.58-1G>A) | |
| 12 | g.101768162T>A | CA386302148 | GNPTAB | c.1285-2A>T (n.1285-2A>T) c.1204-2A>T (n.1204-2A>T) c.1069-2A>T (n.1069-2A>T) c.58-2A>T (n.58-2A>T) | |
| 12 | g.101768162T>C | CA343342 | GNPTAB | c.1285-2A>G (n.1285-2A>G) c.1204-2A>G (n.1204-2A>G) c.1069-2A>G (n.1069-2A>G) c.58-2A>G (n.58-2A>G) | ClinVar dbSNP |
| 12 | g.101768162T>G | CA386302150 | GNPTAB | c.1285-2A>C (n.1285-2A>C) c.1204-2A>C (n.1204-2A>C) c.1069-2A>C (n.1069-2A>C) c.58-2A>C (n.58-2A>C) | |
| 12 | g.101768162T= | CA2058957002 | GNPTAB | c.1285-2A= (n.1285-2A=) c.1204-2A= (n.1204-2A=) c.1069-2A= (n.1069-2A=) c.58-2A= (n.58-2A=) | |
| 12 | g.101768164C>A | CA6746659 | GNPTAB | c.1285-4G>T (n.1285-4G>T) c.1204-4G>T (n.1204-4G>T) c.1069-4G>T (n.1069-4G>T) c.58-4G>T (n.58-4G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768164C= | CA2058957003 | GNPTAB | c.1285-4G= (n.1285-4G=) c.1204-4G= (n.1204-4G=) c.1069-4G= (n.1069-4G=) c.58-4G= (n.58-4G=) | |
| 12 | g.101768164C>G | CA2620450562 | GNPTAB | c.1285-4G>C (n.1285-4G>C) c.1204-4G>C (n.1204-4G>C) c.1069-4G>C (n.1069-4G>C) c.58-4G>C (n.58-4G>C) | gnomAD v4 |
| 12 | g.101768164C>T | CA6746658 | GNPTAB | c.1285-4G>A (n.1285-4G>A) c.1204-4G>A (n.1204-4G>A) c.1069-4G>A (n.1069-4G>A) c.58-4G>A (n.58-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.101768165G>A | CA242461305 | GNPTAB | c.1285-5C>T (n.1285-5C>T) c.1204-5C>T (n.1204-5C>T) c.1069-5C>T (n.1069-5C>T) c.58-5C>T (n.58-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768165G>C | CA2580085715 | GNPTAB | c.1285-5C>G (n.1285-5C>G) c.1204-5C>G (n.1204-5C>G) c.1069-5C>G (n.1069-5C>G) c.58-5C>G (n.58-5C>G) | ClinVar |
| 12 | g.101768165G= | CA2058957004 | GNPTAB | c.1285-5C= (n.1285-5C=) c.1204-5C= (n.1204-5C=) c.1069-5C= (n.1069-5C=) c.58-5C= (n.58-5C=) | |
| 12 | g.101768168A>G | CA2573147960 | GNPTAB | c.1285-8T>C (n.1285-8T>C) c.1204-8T>C (n.1204-8T>C) c.1069-8T>C (n.1069-8T>C) c.58-8T>C (n.58-8T>C) | ClinVar dbSNP |
| 12 | g.101768171A= | CA2058957005 | GNPTAB | c.1285-11T= (n.1285-11T=) c.1204-11T= (n.1204-11T=) c.1069-11T= (n.1069-11T=) c.58-11T= (n.58-11T=) | |
| 12 | g.101768171A>C | CA2512186662 | GNPTAB | c.1285-11T>G (n.1285-11T>G) c.1204-11T>G (n.1204-11T>G) c.1069-11T>G (n.1069-11T>G) c.58-11T>G (n.58-11T>G) | |
| 12 | g.101768171A>G | CA2058957006 | GNPTAB | c.1285-11T>C (n.1285-11T>C) c.1204-11T>C (n.1204-11T>C) c.1069-11T>C (n.1069-11T>C) c.58-11T>C (n.58-11T>C) | dbSNP gnomAD v4 |