| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2165268_2165977del | CA913184914 | TH | c.1104+25_1298del c.822+25_1016del c.1185+25_1379del c.1197+25_1391del c.1116+25_1310del | |
| 11 | g.2165286_2165289delinsTACG | CA1948003519 | TH | c.1277_1280delinsCGTA (p.Thr426=) c.995_998delinsCGTA (p.Thr332=) c.1358_1361delinsCGTA (p.Thr453=) c.1370_1373delinsCGTA (p.Thr457=) c.1289_1292delinsCGTA (p.Thr430=) | |
| 11 | g.2165287A>C | CA379125042 | TH | c.1279T>G (p.Tyr427Asp) c.997T>G (p.Tyr333Asp) c.1360T>G (p.Tyr454Asp) c.1372T>G (p.Tyr458Asp) c.1291T>G (p.Tyr431Asp) | |
| 11 | g.2165287A>G | CA379125044 | TH | c.1279T>C (p.Tyr427His) c.997T>C (p.Tyr333His) c.1360T>C (p.Tyr454His) c.1372T>C (p.Tyr458His) c.1291T>C (p.Tyr431His) | gnomAD v4 |
| 11 | g.2165287A>T | CA379125043 | TH | c.1279T>A (p.Tyr427Asn) c.997T>A (p.Tyr333Asn) c.1360T>A (p.Tyr454Asn) c.1372T>A (p.Tyr458Asn) c.1291T>A (p.Tyr431Asn) | |
| 11 | g.2165287_2165289del | CA5818311 | TH | c.1277_1279del (p.Thr426_Tyr427delinsAsn) c.995_997del (p.Thr332_Tyr333delinsAsn) c.1358_1360del (p.Thr453_Tyr454delinsAsn) c.1370_1372del (p.Thr457_Tyr458delinsAsn) c.1289_1291del (p.Thr430_Tyr431delinsAsn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2165288C>A | CA472033838 | TH | c.1278G>T (p.Thr426=) c.996G>T (p.Thr332=) c.1359G>T (p.Thr453=) c.1371G>T (p.Thr457=) c.1290G>T (p.Thr430=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2165288C= | CA1948003523 | TH | c.1278G= (p.Thr426=) c.996G= (p.Thr332=) c.1359G= (p.Thr453=) c.1371G= (p.Thr457=) c.1290G= (p.Thr430=) | |
| 11 | g.2165288C>G | CA472033840 | TH | c.1278G>C (p.Thr426=) c.996G>C (p.Thr332=) c.1359G>C (p.Thr453=) c.1371G>C (p.Thr457=) c.1290G>C (p.Thr430=) | |
| 11 | g.2165288C>T | CA5818312 | TH | c.1278G>A (p.Thr426=) c.996G>A (p.Thr332=) c.1359G>A (p.Thr453=) c.1371G>A (p.Thr457=) c.1290G>A (p.Thr430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165289G>A | CA5818313 | TH | c.1277C>T (p.Thr426Met) c.995C>T (p.Thr332Met) c.1358C>T (p.Thr453Met) c.1370C>T (p.Thr457Met) c.1289C>T (p.Thr430Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165289G>C | CA379125045 | TH | c.1277C>G (p.Thr426Arg) c.995C>G (p.Thr332Arg) c.1358C>G (p.Thr453Arg) c.1370C>G (p.Thr457Arg) c.1289C>G (p.Thr430Arg) | |
| 11 | g.2165289G= | CA1948003529 | TH | c.1277C= (p.Thr426=) c.995C= (p.Thr332=) c.1358C= (p.Thr453=) c.1370C= (p.Thr457=) c.1289C= (p.Thr430=) | |
| 11 | g.2165289G>T | CA379125046 | TH | c.1277C>A (p.Thr426Lys) c.995C>A (p.Thr332Lys) c.1358C>A (p.Thr453Lys) c.1370C>A (p.Thr457Lys) c.1289C>A (p.Thr430Lys) | |
| 11 | g.2165290T>A | CA379125047 | TH | c.1276A>T (p.Thr426Ser) c.994A>T (p.Thr332Ser) c.1357A>T (p.Thr453Ser) c.1369A>T (p.Thr457Ser) c.1288A>T (p.Thr430Ser) | |
| 11 | g.2165290T>C | CA379125048 | TH | c.1276A>G (p.Thr426Ala) c.994A>G (p.Thr332Ala) c.1357A>G (p.Thr453Ala) c.1369A>G (p.Thr457Ala) c.1288A>G (p.Thr430Ala) | gnomAD v4 |
| 11 | g.2165290T>G | CA379125049 | TH | c.1276A>C (p.Thr426Pro) c.994A>C (p.Thr332Pro) c.1357A>C (p.Thr453Pro) c.1369A>C (p.Thr457Pro) c.1288A>C (p.Thr430Pro) | |
| 11 | g.2165291C>A | CA379125050 | TH | c.1275G>T (p.Gln425His) c.993G>T (p.Gln331His) c.1356G>T (p.Gln452His) c.1368G>T (p.Gln456His) c.1287G>T (p.Gln429His) | |
| 11 | g.2165291C>G | CA379125051 | TH | c.1275G>C (p.Gln425His) c.993G>C (p.Gln331His) c.1356G>C (p.Gln452His) c.1368G>C (p.Gln456His) c.1287G>C (p.Gln429His) | |
| 11 | g.2165291C>T | CA472033854 | TH | c.1275G>A (p.Gln425=) c.993G>A (p.Gln331=) c.1356G>A (p.Gln452=) c.1368G>A (p.Gln456=) c.1287G>A (p.Gln429=) | |
| 11 | g.2165292T>A | CA379125057 | TH | c.1274A>T (p.Gln425Leu) c.992A>T (p.Gln331Leu) c.1355A>T (p.Gln452Leu) c.1367A>T (p.Gln456Leu) c.1286A>T (p.Gln429Leu) | |
| 11 | g.2165292T>C | CA379125055 | TH | c.1274A>G (p.Gln425Arg) c.992A>G (p.Gln331Arg) c.1355A>G (p.Gln452Arg) c.1367A>G (p.Gln456Arg) c.1286A>G (p.Gln429Arg) | |
| 11 | g.2165292T>G | CA379125053 | TH | c.1274A>C (p.Gln425Pro) c.992A>C (p.Gln331Pro) c.1355A>C (p.Gln452Pro) c.1367A>C (p.Gln456Pro) c.1286A>C (p.Gln429Pro) | |
| 11 | g.2165293G>A | CA379125060 | TH | c.1273C>T (p.Gln425Ter) c.991C>T (p.Gln331Ter) c.1354C>T (p.Gln452Ter) c.1366C>T (p.Gln456Ter) c.1285C>T (p.Gln429Ter) | ClinVar |
| 11 | g.2165293G>C | CA379125062 | TH | c.1273C>G (p.Gln425Glu) c.991C>G (p.Gln331Glu) c.1354C>G (p.Gln452Glu) c.1366C>G (p.Gln456Glu) c.1285C>G (p.Gln429Glu) | gnomAD v4 |
| 11 | g.2165293G>T | CA379125064 | TH | c.1273C>A (p.Gln425Lys) c.991C>A (p.Gln331Lys) c.1354C>A (p.Gln452Lys) c.1366C>A (p.Gln456Lys) c.1285C>A (p.Gln429Lys) | |
| 11 | g.2165294G>A | CA472033863 | TH | c.1272C>T (p.Asp424=) c.*961C>T (n.*961C>T) c.990C>T (p.Asp330=) c.1353C>T (p.Asp451=) c.1365C>T (p.Asp455=) c.1284C>T (p.Asp428=) | ClinVar dbSNP |
| 11 | g.2165294G>C | CA379125067 | TH | c.1272C>G (p.Asp424Glu) c.*961C>G (n.*961C>G) c.990C>G (p.Asp330Glu) c.1353C>G (p.Asp451Glu) c.1365C>G (p.Asp455Glu) c.1284C>G (p.Asp428Glu) | |
| 11 | g.2165294G>T | CA379125069 | TH | c.1272C>A (p.Asp424Glu) c.*961C>A (n.*961C>A) c.990C>A (p.Asp330Glu) c.1353C>A (p.Asp451Glu) c.1365C>A (p.Asp455Glu) c.1284C>A (p.Asp428Glu) | |
| 11 | g.2165295T>A | CA379125072 | TH | c.1271A>T (p.Asp424Val) c.*960A>T (n.*960A>T) c.989A>T (p.Asp330Val) c.1352A>T (p.Asp451Val) c.1364A>T (p.Asp455Val) c.1283A>T (p.Asp428Val) | |
| 11 | g.2165295T>C | CA379125074 | TH | c.1271A>G (p.Asp424Gly) c.*960A>G (n.*960A>G) c.989A>G (p.Asp330Gly) c.1352A>G (p.Asp451Gly) c.1364A>G (p.Asp455Gly) c.1283A>G (p.Asp428Gly) | |
| 11 | g.2165295T>G | CA379125076 | TH | c.1271A>C (p.Asp424Ala) c.*960A>C (n.*960A>C) c.989A>C (p.Asp330Ala) c.1352A>C (p.Asp451Ala) c.1364A>C (p.Asp455Ala) c.1283A>C (p.Asp428Ala) | ClinVar dbSNP |
| 11 | g.2165295T= | CA1948003533 | TH | c.1271A= (p.Asp424=) c.*960A= (n.*960A=) c.989A= (p.Asp330=) c.1352A= (p.Asp451=) c.1364A= (p.Asp455=) c.1283A= (p.Asp428=) | |
| 11 | g.2165296C>A | CA379125079 | TH | c.1270G>T (p.Asp424Tyr) c.*959G>T (n.*959G>T) c.988G>T (p.Asp330Tyr) c.1351G>T (p.Asp451Tyr) c.1363G>T (p.Asp455Tyr) c.1282G>T (p.Asp428Tyr) | |
| 11 | g.2165296C>G | CA379125082 | TH | c.1270G>C (p.Asp424His) c.*959G>C (n.*959G>C) c.988G>C (p.Asp330His) c.1351G>C (p.Asp451His) c.1363G>C (p.Asp455His) c.1282G>C (p.Asp428His) | gnomAD v4 |
| 11 | g.2165296C>T | CA379125083 | TH | c.1270G>A (p.Asp424Asn) c.*959G>A (n.*959G>A) c.988G>A (p.Asp330Asn) c.1351G>A (p.Asp451Asn) c.1363G>A (p.Asp455Asn) c.1282G>A (p.Asp428Asn) | |
| 11 | g.2165297T>A | CA379125086 | TH | c.1269A>T (p.Gln423His) c.*958A>T (n.*958A>T) c.987A>T (p.Gln329His) c.1350A>T (p.Gln450His) c.1362A>T (p.Gln454His) c.1281A>T (p.Gln427His) | |
| 11 | g.2165297T>C | CA472033874 | TH | c.1269A>G (p.Gln423=) c.*958A>G (n.*958A>G) c.987A>G (p.Gln329=) c.1350A>G (p.Gln450=) c.1362A>G (p.Gln454=) c.1281A>G (p.Gln427=) | |
| 11 | g.2165297T>G | CA379125088 | TH | c.1269A>C (p.Gln423His) c.*958A>C (n.*958A>C) c.987A>C (p.Gln329His) c.1350A>C (p.Gln450His) c.1362A>C (p.Gln454His) c.1281A>C (p.Gln427His) | |
| 11 | g.2165298T>A | CA379125091 | TH | c.1268A>T (p.Gln423Leu) c.*957A>T (n.*957A>T) c.986A>T (p.Gln329Leu) c.1349A>T (p.Gln450Leu) c.1361A>T (p.Gln454Leu) c.1280A>T (p.Gln427Leu) | |
| 11 | g.2165298T>C | CA379125095 | TH | c.1268A>G (p.Gln423Arg) c.*957A>G (n.*957A>G) c.986A>G (p.Gln329Arg) c.1349A>G (p.Gln450Arg) c.1361A>G (p.Gln454Arg) c.1280A>G (p.Gln427Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2165298T>G | CA379125093 | TH | c.1268A>C (p.Gln423Pro) c.*957A>C (n.*957A>C) c.986A>C (p.Gln329Pro) c.1349A>C (p.Gln450Pro) c.1361A>C (p.Gln454Pro) c.1280A>C (p.Gln427Pro) | |
| 11 | g.2165298T= | CA1948003536 | TH | c.1268A= (p.Gln423=) c.*957A= (n.*957A=) c.986A= (p.Gln329=) c.1349A= (p.Gln450=) c.1361A= (p.Gln454=) c.1280A= (p.Gln427=) | |
| 11 | g.2165299G>A | CA379125097 | TH | c.1267C>T (p.Gln423Ter) c.*956C>T (n.*956C>T) c.985C>T (p.Gln329Ter) c.1348C>T (p.Gln450Ter) c.1360C>T (p.Gln454Ter) c.1279C>T (p.Gln427Ter) | ClinVar |
| 11 | g.2165299G>C | CA379125098 | TH | c.1267C>G (p.Gln423Glu) c.*956C>G (n.*956C>G) c.985C>G (p.Gln329Glu) c.1348C>G (p.Gln450Glu) c.1360C>G (p.Gln454Glu) c.1279C>G (p.Gln427Glu) | gnomAD v4 |
| 11 | g.2165299G>T | CA379125099 | TH | c.1267C>A (p.Gln423Lys) c.*956C>A (n.*956C>A) c.985C>A (p.Gln329Lys) c.1348C>A (p.Gln450Lys) c.1360C>A (p.Gln454Lys) c.1279C>A (p.Gln427Lys) | gnomAD v4 |
| 11 | g.2165300G>A | CA472033881 | TH | c.1266C>T (p.Tyr422=) c.*955C>T (n.*955C>T) c.984C>T (p.Tyr328=) c.1347C>T (p.Tyr449=) c.1359C>T (p.Tyr453=) c.1278C>T (p.Tyr426=) | |
| 11 | g.2165300G>C | CA379125100 | TH | c.1266C>G (p.Tyr422Ter) c.*955C>G (n.*955C>G) c.984C>G (p.Tyr328Ter) c.1347C>G (p.Tyr449Ter) c.1359C>G (p.Tyr453Ter) c.1278C>G (p.Tyr426Ter) | |
| 11 | g.2165300G= | CA1948003538 | TH | c.1266C= (p.Tyr422=) c.*955C= (n.*955C=) c.984C= (p.Tyr328=) c.1347C= (p.Tyr449=) c.1359C= (p.Tyr453=) c.1278C= (p.Tyr426=) | |
| 11 | g.2165300G>T | CA379125101 | TH | c.1266C>A (p.Tyr422Ter) c.*955C>A (n.*955C>A) c.984C>A (p.Tyr328Ter) c.1347C>A (p.Tyr449Ter) c.1359C>A (p.Tyr453Ter) c.1278C>A (p.Tyr426Ter) | ClinVar dbSNP |
| 11 | g.2165301T>A | CA379125103 | TH | c.1265A>T (p.Tyr422Phe) c.*954A>T (n.*954A>T) c.983A>T (p.Tyr328Phe) c.1346A>T (p.Tyr449Phe) c.1358A>T (p.Tyr453Phe) c.1277A>T (p.Tyr426Phe) | |
| 11 | g.2165301T>C | CA379125105 | TH | c.1265A>G (p.Tyr422Cys) c.*954A>G (n.*954A>G) c.983A>G (p.Tyr328Cys) c.1346A>G (p.Tyr449Cys) c.1358A>G (p.Tyr453Cys) c.1277A>G (p.Tyr426Cys) | |
| 11 | g.2165301T>G | CA379125108 | TH | c.1265A>C (p.Tyr422Ser) c.*954A>C (n.*954A>C) c.983A>C (p.Tyr328Ser) c.1346A>C (p.Tyr449Ser) c.1358A>C (p.Tyr453Ser) c.1277A>C (p.Tyr426Ser) | dbSNP |
| 11 | g.2165301T= | CA1948003540 | TH | c.1265A= (p.Tyr422=) c.*954A= (n.*954A=) c.983A= (p.Tyr328=) c.1346A= (p.Tyr449=) c.1358A= (p.Tyr453=) c.1277A= (p.Tyr426=) | |
| 11 | g.2165302A>C | CA379125113 | TH | c.1264T>G (p.Tyr422Asp) c.*953T>G (n.*953T>G) c.982T>G (p.Tyr328Asp) c.1345T>G (p.Tyr449Asp) c.1357T>G (p.Tyr453Asp) c.1276T>G (p.Tyr426Asp) | |
| 11 | g.2165302A>G | CA379125116 | TH | c.1264T>C (p.Tyr422His) c.*953T>C (n.*953T>C) c.982T>C (p.Tyr328His) c.1345T>C (p.Tyr449His) c.1357T>C (p.Tyr453His) c.1276T>C (p.Tyr426His) | |
| 11 | g.2165302A>T | CA379125118 | TH | c.1264T>A (p.Tyr422Asn) c.*953T>A (n.*953T>A) c.982T>A (p.Tyr328Asn) c.1345T>A (p.Tyr449Asn) c.1357T>A (p.Tyr453Asn) c.1276T>A (p.Tyr426Asn) | |
| 11 | g.2165303G>A | CA472033892 | TH | c.1263C>T (p.Pro421=) c.*952C>T (n.*952C>T) c.981C>T (p.Pro327=) c.1344C>T (p.Pro448=) c.1356C>T (p.Pro452=) c.1275C>T (p.Pro425=) | |
| 11 | g.2165303G>C | CA472033893 | TH | c.1263C>G (p.Pro421=) c.*952C>G (n.*952C>G) c.981C>G (p.Pro327=) c.1344C>G (p.Pro448=) c.1356C>G (p.Pro452=) c.1275C>G (p.Pro425=) | |
| 11 | g.2165303G>T | CA472033895 | TH | c.1263C>A (p.Pro421=) c.*952C>A (n.*952C>A) c.981C>A (p.Pro327=) c.1344C>A (p.Pro448=) c.1356C>A (p.Pro452=) c.1275C>A (p.Pro425=) | |
| 11 | g.2165304G>A | CA5818314 | TH | c.1262C>T (p.Pro421Leu) c.*951C>T (n.*951C>T) c.980C>T (p.Pro327Leu) c.1343C>T (p.Pro448Leu) c.1355C>T (p.Pro452Leu) c.1274C>T (p.Pro425Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2165304G>C | CA379125123 | TH | c.1262C>G (p.Pro421Arg) c.*951C>G (n.*951C>G) c.980C>G (p.Pro327Arg) c.1343C>G (p.Pro448Arg) c.1355C>G (p.Pro452Arg) c.1274C>G (p.Pro425Arg) | |
| 11 | g.2165304G= | CA1948003546 | TH | c.1262C= (p.Pro421=) c.*951C= (n.*951C=) c.980C= (p.Pro327=) c.1343C= (p.Pro448=) c.1355C= (p.Pro452=) c.1274C= (p.Pro425=) | |
| 11 | g.2165304G>T | CA379125120 | TH | c.1262C>A (p.Pro421His) c.*951C>A (n.*951C>A) c.980C>A (p.Pro327His) c.1343C>A (p.Pro448His) c.1355C>A (p.Pro452His) c.1274C>A (p.Pro425His) | |
| 11 | g.2165305G>A | CA379125132 | TH | c.1261C>T (p.Pro421Ser) c.*950C>T (n.*950C>T) c.979C>T (p.Pro327Ser) c.1342C>T (p.Pro448Ser) c.1354C>T (p.Pro452Ser) c.1273C>T (p.Pro425Ser) | gnomAD v4 |
| 11 | g.2165305G>C | CA379125125 | TH | c.1261C>G (p.Pro421Ala) c.*950C>G (n.*950C>G) c.979C>G (p.Pro327Ala) c.1342C>G (p.Pro448Ala) c.1354C>G (p.Pro452Ala) c.1273C>G (p.Pro425Ala) | |
| 11 | g.2165305G>T | CA379125131 | TH | c.1261C>A (p.Pro421Thr) c.*950C>A (n.*950C>A) c.979C>A (p.Pro327Thr) c.1342C>A (p.Pro448Thr) c.1354C>A (p.Pro452Thr) c.1273C>A (p.Pro425Thr) | |
| 11 | g.2165306C>A | CA379125135 | TH | c.1260G>T (p.Gln420His) c.*949G>T (n.*949G>T) c.978G>T (p.Gln326His) c.1341G>T (p.Gln447His) c.1353G>T (p.Gln451His) c.1272G>T (p.Gln424His) | |
| 11 | g.2165306C>G | CA379125137 | TH | c.1260G>C (p.Gln420His) c.*949G>C (n.*949G>C) c.978G>C (p.Gln326His) c.1341G>C (p.Gln447His) c.1353G>C (p.Gln451His) c.1272G>C (p.Gln424His) | |
| 11 | g.2165306C>T | CA472033904 | TH | c.1260G>A (p.Gln420=) c.*949G>A (n.*949G>A) c.978G>A (p.Gln326=) c.1341G>A (p.Gln447=) c.1353G>A (p.Gln451=) c.1272G>A (p.Gln424=) | ClinVar |
| 11 | g.2165307T>A | CA379125138 | TH | c.1259A>T (p.Gln420Leu) c.*948A>T (n.*948A>T) c.977A>T (p.Gln326Leu) c.1340A>T (p.Gln447Leu) c.1352A>T (p.Gln451Leu) c.1271A>T (p.Gln424Leu) | |
| 11 | g.2165307T>C | CA379125139 | TH | c.1259A>G (p.Gln420Arg) c.*948A>G (n.*948A>G) c.977A>G (p.Gln326Arg) c.1340A>G (p.Gln447Arg) c.1352A>G (p.Gln451Arg) c.1271A>G (p.Gln424Arg) | dbSNP gnomAD v2 |
| 11 | g.2165307T>G | CA379125140 | TH | c.1259A>C (p.Gln420Pro) c.*948A>C (n.*948A>C) c.977A>C (p.Gln326Pro) c.1340A>C (p.Gln447Pro) c.1352A>C (p.Gln451Pro) c.1271A>C (p.Gln424Pro) | |
| 11 | g.2165307T= | CA1948003551 | TH | c.1259A= (p.Gln420=) c.*948A= (n.*948A=) c.977A= (p.Gln326=) c.1340A= (p.Gln447=) c.1352A= (p.Gln451=) c.1271A= (p.Gln424=) | |
| 11 | g.2165308G>A | CA379125141 | TH | c.1258C>T (p.Gln420Ter) c.*947C>T (n.*947C>T) c.976C>T (p.Gln326Ter) c.1339C>T (p.Gln447Ter) c.1351C>T (p.Gln451Ter) c.1270C>T (p.Gln424Ter) | |
| 11 | g.2165308G>C | CA379125143 | TH | c.1258C>G (p.Gln420Glu) c.*947C>G (n.*947C>G) c.976C>G (p.Gln326Glu) c.1339C>G (p.Gln447Glu) c.1351C>G (p.Gln451Glu) c.1270C>G (p.Gln424Glu) | |
| 11 | g.2165308G>T | CA379125145 | TH | c.1258C>A (p.Gln420Lys) c.*947C>A (n.*947C>A) c.976C>A (p.Gln326Lys) c.1339C>A (p.Gln447Lys) c.1351C>A (p.Gln451Lys) c.1270C>A (p.Gln424Lys) | |
| 11 | g.2165309C>A | CA472033918 | TH | c.1257G>T (p.Val419=) c.*946G>T (n.*946G>T) c.975G>T (p.Val325=) c.1338G>T (p.Val446=) c.1350G>T (p.Val450=) c.1269G>T (p.Val423=) | |
| 11 | g.2165309C= | CA1948003555 | TH | c.1257G= (p.Val419=) c.*946G= (n.*946G=) c.975G= (p.Val325=) c.1338G= (p.Val446=) c.1350G= (p.Val450=) c.1269G= (p.Val423=) | |
| 11 | g.2165309C>G | CA472033914 | TH | c.1257G>C (p.Val419=) c.*946G>C (n.*946G>C) c.975G>C (p.Val325=) c.1338G>C (p.Val446=) c.1350G>C (p.Val450=) c.1269G>C (p.Val423=) | |
| 11 | g.2165309C>T | CA472033916 | TH | c.1257G>A (p.Val419=) c.*946G>A (n.*946G>A) c.975G>A (p.Val325=) c.1338G>A (p.Val446=) c.1350G>A (p.Val450=) c.1269G>A (p.Val423=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2165310A= | CA1948003560 | TH | c.1256T= (p.Val419=) c.*945T= (n.*945T=) c.974T= (p.Val325=) c.1337T= (p.Val446=) c.1349T= (p.Val450=) c.1268T= (p.Val423=) | |
| 11 | g.2165310A>C | CA379125147 | TH | c.1256T>G (p.Val419Gly) c.*945T>G (n.*945T>G) c.974T>G (p.Val325Gly) c.1337T>G (p.Val446Gly) c.1349T>G (p.Val450Gly) c.1268T>G (p.Val423Gly) | dbSNP |
| 11 | g.2165310A>G | CA379125148 | TH | c.1256T>C (p.Val419Ala) c.*945T>C (n.*945T>C) c.974T>C (p.Val325Ala) c.1337T>C (p.Val446Ala) c.1349T>C (p.Val450Ala) c.1268T>C (p.Val423Ala) | gnomAD v4 |
| 11 | g.2165310A>T | CA379125149 | TH | c.1256T>A (p.Val419Glu) c.*945T>A (n.*945T>A) c.974T>A (p.Val325Glu) c.1337T>A (p.Val446Glu) c.1349T>A (p.Val450Glu) c.1268T>A (p.Val423Glu) | |
| 11 | g.2165311C>A | CA379125151 | TH | c.1255G>T (p.Val419Leu) c.*944G>T (n.*944G>T) c.973G>T (p.Val325Leu) c.1336G>T (p.Val446Leu) c.1348G>T (p.Val450Leu) c.1267G>T (p.Val423Leu) | |
| 11 | g.2165311C= | CA1948003565 | TH | c.1255G= (p.Val419=) c.*944G= (n.*944G=) c.973G= (p.Val325=) c.1336G= (p.Val446=) c.1348G= (p.Val450=) c.1267G= (p.Val423=) | |
| 11 | g.2165311C>G | CA216282841 | TH | c.1255G>C (p.Val419Leu) c.*944G>C (n.*944G>C) c.973G>C (p.Val325Leu) c.1336G>C (p.Val446Leu) c.1348G>C (p.Val450Leu) c.1267G>C (p.Val423Leu) | dbSNP gnomAD v4 |
| 11 | g.2165311C>T | CA5818315 | TH | c.1255G>A (p.Val419Met) c.*944G>A (n.*944G>A) c.973G>A (p.Val325Met) c.1336G>A (p.Val446Met) c.1348G>A (p.Val450Met) c.1267G>A (p.Val423Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165312G>A | CA5818316 | TH | c.1254C>T (p.Ala418=) c.*943C>T (n.*943C>T) c.972C>T (p.Ala324=) c.1335C>T (p.Ala445=) c.1347C>T (p.Ala449=) c.1266C>T (p.Ala422=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165312G>C | CA472033927 | TH | c.1254C>G (p.Ala418=) c.*943C>G (n.*943C>G) c.972C>G (p.Ala324=) c.1335C>G (p.Ala445=) c.1347C>G (p.Ala449=) c.1266C>G (p.Ala422=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2165312G= | CA1948003571 | TH | c.1254C= (p.Ala418=) c.*943C= (n.*943C=) c.972C= (p.Ala324=) c.1335C= (p.Ala445=) c.1347C= (p.Ala449=) c.1266C= (p.Ala422=) | |
| 11 | g.2165312G>T | CA472033929 | TH | c.1254C>A (p.Ala418=) c.*943C>A (n.*943C>A) c.972C>A (p.Ala324=) c.1335C>A (p.Ala445=) c.1347C>A (p.Ala449=) c.1266C>A (p.Ala422=) | dbSNP |
| 11 | g.2165313G>A | CA379125157 | TH | c.1253C>T (p.Ala418Val) c.*942C>T (n.*942C>T) c.971C>T (p.Ala324Val) c.1334C>T (p.Ala445Val) c.1346C>T (p.Ala449Val) c.1265C>T (p.Ala422Val) | |
| 11 | g.2165313G>C | CA379125159 | TH | c.1253C>G (p.Ala418Gly) c.*942C>G (n.*942C>G) c.971C>G (p.Ala324Gly) c.1334C>G (p.Ala445Gly) c.1346C>G (p.Ala449Gly) c.1265C>G (p.Ala422Gly) | |
| 11 | g.2165313G>T | CA379125160 | TH | c.1253C>A (p.Ala418Asp) c.*942C>A (n.*942C>A) c.971C>A (p.Ala324Asp) c.1334C>A (p.Ala445Asp) c.1346C>A (p.Ala449Asp) c.1265C>A (p.Ala422Asp) | gnomAD v4 |
| 11 | g.2165315_2165317dup | CA2611972094 | TH | c.1251_1253dup (p.Ala418_Val419insAla) c.*940_*942dup (n.*940_*942dup) c.969_971dup (p.Ala324_Val325insAla) c.1332_1334dup (p.Ala445_Val446insAla) c.1344_1346dup (p.Ala449_Val450insAla) c.1263_1265dup (p.Ala422_Val423insAla) | gnomAD v4 |
| 11 | g.2165313_2165335delinsGCCGCAGCCTCAGGGTCGAAGGC | CA1948003576 | TH | c.1231_1253delinsGCCTTCGACCCTGAGGCTGCGGC (p.Ala411=) c.*920_*942delinsGCCTTCGACCCTGAGGCTGCGGC (n.*920_*942delinsGCCTTCGACCCTGAGGCTGCGGC) c.949_971delinsGCCTTCGACCCTGAGGCTGCGGC (p.Ala317=) c.1312_1334delinsGCCTTCGACCCTGAGGCTGCGGC (p.Ala438=) c.1324_1346delinsGCCTTCGACCCTGAGGCTGCGGC (p.Ala442=) c.1243_1265delinsGCCTTCGACCCTGAGGCTGCGGC (p.Ala415=) | |
| 11 | g.2165314C>A | CA379125162 | TH | c.1252G>T (p.Ala418Ser) c.*941G>T (n.*941G>T) c.970G>T (p.Ala324Ser) c.1333G>T (p.Ala445Ser) c.1345G>T (p.Ala449Ser) c.1264G>T (p.Ala422Ser) | |
| 11 | g.2165314C>G | CA379125163 | TH | c.1252G>C (p.Ala418Pro) c.*941G>C (n.*941G>C) c.970G>C (p.Ala324Pro) c.1333G>C (p.Ala445Pro) c.1345G>C (p.Ala449Pro) c.1264G>C (p.Ala422Pro) | |
| 11 | g.2165314C>T | CA379125164 | TH | c.1252G>A (p.Ala418Thr) c.*941G>A (n.*941G>A) c.970G>A (p.Ala324Thr) c.1333G>A (p.Ala445Thr) c.1345G>A (p.Ala449Thr) c.1264G>A (p.Ala422Thr) | |
| 11 | g.2165315dup | CA2580082620 | TH | c.1252dup (p.Ala418GlyfsTer18) c.*941dup (n.*941dup) c.970dup (p.Ala324GlyfsTer18) c.1333dup (p.Ala445GlyfsTer18) c.1345dup (p.Ala449GlyfsTer18) c.1264dup (p.Ala422GlyfsTer18) | ClinVar |
| 11 | g.2165317_2165338del | CA674604587 | TH | c.1231_1252del (p.Ala411ProfsTer?) c.*920_*941del (n.*920_*941del) c.949_970del (p.Ala317ProfsTer?) c.1312_1333del (p.Ala438ProfsTer?) c.1324_1345del (p.Ala442ProfsTer?) c.1243_1264del (p.Ala415ProfsTer?) | dbSNP |
| 11 | g.2165315C>A | CA472033937 | TH | c.1251G>T (p.Ala417=) c.*940G>T (n.*940G>T) c.969G>T (p.Ala323=) c.1332G>T (p.Ala444=) c.1344G>T (p.Ala448=) c.1263G>T (p.Ala421=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.2165315C= | CA1948003581 | TH | c.1251G= (p.Ala417=) c.*940G= (n.*940G=) c.969G= (p.Ala323=) c.1332G= (p.Ala444=) c.1344G= (p.Ala448=) c.1263G= (p.Ala421=) | |
| 11 | g.2165315C>G | CA472033938 | TH | c.1251G>C (p.Ala417=) c.*940G>C (n.*940G>C) c.969G>C (p.Ala323=) c.1332G>C (p.Ala444=) c.1344G>C (p.Ala448=) c.1263G>C (p.Ala421=) | |
| 11 | g.2165315C>T | CA5818317 | TH | c.1251G>A (p.Ala417=) c.*940G>A (n.*940G>A) c.969G>A (p.Ala323=) c.1332G>A (p.Ala444=) c.1344G>A (p.Ala448=) c.1263G>A (p.Ala421=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.2165316G>A | CA5818318 | TH | c.1250C>T (p.Ala417Val) c.*939C>T (n.*939C>T) c.968C>T (p.Ala323Val) c.1331C>T (p.Ala444Val) c.1343C>T (p.Ala448Val) c.1262C>T (p.Ala421Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165316G>C | CA379125166 | TH | c.1250C>G (p.Ala417Gly) c.*939C>G (n.*939C>G) c.968C>G (p.Ala323Gly) c.1331C>G (p.Ala444Gly) c.1343C>G (p.Ala448Gly) c.1262C>G (p.Ala421Gly) | |
| 11 | g.2165316G= | CA1948003589 | TH | c.1250C= (p.Ala417=) c.*939C= (n.*939C=) c.968C= (p.Ala323=) c.1331C= (p.Ala444=) c.1343C= (p.Ala448=) c.1262C= (p.Ala421=) | |
| 11 | g.2165316G>T | CA216282886 | TH | c.1250C>A (p.Ala417Glu) c.*939C>A (n.*939C>A) c.968C>A (p.Ala323Glu) c.1331C>A (p.Ala444Glu) c.1343C>A (p.Ala448Glu) c.1262C>A (p.Ala421Glu) | dbSNP gnomAD v4 |
| 11 | g.2165317C>A | CA379125174 | TH | c.1249G>T (p.Ala417Ser) c.*938G>T (n.*938G>T) c.967G>T (p.Ala323Ser) c.1330G>T (p.Ala444Ser) c.1342G>T (p.Ala448Ser) c.1261G>T (p.Ala421Ser) | |
| 11 | g.2165317C>G | CA379125177 | TH | c.1249G>C (p.Ala417Pro) c.*938G>C (n.*938G>C) c.967G>C (p.Ala323Pro) c.1330G>C (p.Ala444Pro) c.1342G>C (p.Ala448Pro) c.1261G>C (p.Ala421Pro) | |
| 11 | g.2165317C>T | CA379125168 | TH | c.1249G>A (p.Ala417Thr) c.*938G>A (n.*938G>A) c.967G>A (p.Ala323Thr) c.1330G>A (p.Ala444Thr) c.1342G>A (p.Ala448Thr) c.1261G>A (p.Ala421Thr) | |
| 11 | g.2165318A>C | CA472033948 | TH | c.1248T>G (p.Ala416=) c.*937T>G (n.*937T>G) c.966T>G (p.Ala322=) c.1329T>G (p.Ala443=) c.1341T>G (p.Ala447=) c.1260T>G (p.Ala420=) | |
| 11 | g.2165318A>G | CA472033950 | TH | c.1248T>C (p.Ala416=) c.*937T>C (n.*937T>C) c.966T>C (p.Ala322=) c.1329T>C (p.Ala443=) c.1341T>C (p.Ala447=) c.1260T>C (p.Ala420=) | |
| 11 | g.2165318A>T | CA472033949 | TH | c.1248T>A (p.Ala416=) c.*937T>A (n.*937T>A) c.966T>A (p.Ala322=) c.1329T>A (p.Ala443=) c.1341T>A (p.Ala447=) c.1260T>A (p.Ala420=) | |
| 11 | g.2165319G>A | CA379125178 | TH | c.1247C>T (p.Ala416Val) c.*936C>T (n.*936C>T) c.965C>T (p.Ala322Val) c.1328C>T (p.Ala443Val) c.1340C>T (p.Ala447Val) c.1259C>T (p.Ala420Val) | |
| 11 | g.2165319G>C | CA379125180 | TH | c.1247C>G (p.Ala416Gly) c.*936C>G (n.*936C>G) c.965C>G (p.Ala322Gly) c.1328C>G (p.Ala443Gly) c.1340C>G (p.Ala447Gly) c.1259C>G (p.Ala420Gly) | |
| 11 | g.2165319G>T | CA379125187 | TH | c.1247C>A (p.Ala416Asp) c.*936C>A (n.*936C>A) c.965C>A (p.Ala322Asp) c.1328C>A (p.Ala443Asp) c.1340C>A (p.Ala447Asp) c.1259C>A (p.Ala420Asp) | |
| 11 | g.2165320C>A | CA216282888 | TH | c.1246G>T (p.Ala416Ser) c.*935G>T (n.*935G>T) c.964G>T (p.Ala322Ser) c.1327G>T (p.Ala443Ser) c.1339G>T (p.Ala447Ser) c.1258G>T (p.Ala420Ser) | dbSNP gnomAD v4 |
| 11 | g.2165320C= | CA1948003596 | TH | c.1246G= (p.Ala416=) c.*935G= (n.*935G=) c.964G= (p.Ala322=) c.1327G= (p.Ala443=) c.1339G= (p.Ala447=) c.1258G= (p.Ala420=) | |
| 11 | g.2165320C>G | CA379125192 | TH | c.1246G>C (p.Ala416Pro) c.*935G>C (n.*935G>C) c.964G>C (p.Ala322Pro) c.1327G>C (p.Ala443Pro) c.1339G>C (p.Ala447Pro) c.1258G>C (p.Ala420Pro) | |
| 11 | g.2165320C>T | CA379125194 | TH | c.1246G>A (p.Ala416Thr) c.*935G>A (n.*935G>A) c.964G>A (p.Ala322Thr) c.1327G>A (p.Ala443Thr) c.1339G>A (p.Ala447Thr) c.1258G>A (p.Ala420Thr) | gnomAD v4 |
| 11 | g.2165322_2165337del | CA2611972107 | TH | c.1231_1246del (p.Ala411LeufsTer?) c.*920_*935del (n.*920_*935del) c.949_964del (p.Ala317LeufsTer?) c.1312_1327del (p.Ala438LeufsTer?) c.1324_1339del (p.Ala442LeufsTer?) c.1243_1258del (p.Ala415LeufsTer?) | gnomAD v4 |
| 11 | g.2165321C>A | CA379125197 | TH | c.1245G>T (p.Glu415Asp) c.*934G>T (n.*934G>T) c.963G>T (p.Glu321Asp) c.1326G>T (p.Glu442Asp) c.1338G>T (p.Glu446Asp) c.1257G>T (p.Glu419Asp) | |
| 11 | g.2165321C>G | CA379125199 | TH | c.1245G>C (p.Glu415Asp) c.*934G>C (n.*934G>C) c.963G>C (p.Glu321Asp) c.1326G>C (p.Glu442Asp) c.1338G>C (p.Glu446Asp) c.1257G>C (p.Glu419Asp) | |
| 11 | g.2165321C>T | CA472033954 | TH | c.1245G>A (p.Glu415=) c.*934G>A (n.*934G>A) c.963G>A (p.Glu321=) c.1326G>A (p.Glu442=) c.1338G>A (p.Glu446=) c.1257G>A (p.Glu419=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2165327_2165347dup | CA2611972108 | TH | c.1225_1245dup (p.Glu415_Ala416insIleArgAlaPheAspProGlu) c.*914_*934dup (n.*914_*934dup) c.943_963dup (p.Glu321_Ala322insIleArgAlaPheAspProGlu) c.1306_1326dup (p.Glu442_Ala443insIleArgAlaPheAspProGlu) c.1318_1338dup (p.Glu446_Ala447insIleArgAlaPheAspProGlu) c.1237_1257dup (p.Glu419_Ala420insIleArgAlaPheAspProGlu) | gnomAD v4 |
| 11 | g.2165322T>A | CA379125206 | TH | c.1244A>T (p.Glu415Val) c.*933A>T (n.*933A>T) c.962A>T (p.Glu321Val) c.1325A>T (p.Glu442Val) c.1337A>T (p.Glu446Val) c.1256A>T (p.Glu419Val) | |
| 11 | g.2165322T>C | CA379125207 | TH | c.1244A>G (p.Glu415Gly) c.*933A>G (n.*933A>G) c.962A>G (p.Glu321Gly) c.1325A>G (p.Glu442Gly) c.1337A>G (p.Glu446Gly) c.1256A>G (p.Glu419Gly) | |
| 11 | g.2165322T>G | CA379125209 | TH | c.1244A>C (p.Glu415Ala) c.*933A>C (n.*933A>C) c.962A>C (p.Glu321Ala) c.1325A>C (p.Glu442Ala) c.1337A>C (p.Glu446Ala) c.1256A>C (p.Glu419Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2165322T= | CA1948003601 | TH | c.1244A= (p.Glu415=) c.*933A= (n.*933A=) c.962A= (p.Glu321=) c.1325A= (p.Glu442=) c.1337A= (p.Glu446=) c.1256A= (p.Glu419=) | |
| 11 | g.2165323C>A | CA379125212 | TH | c.1243G>T (p.Glu415Ter) c.*932G>T (n.*932G>T) c.961G>T (p.Glu321Ter) c.1324G>T (p.Glu442Ter) c.1336G>T (p.Glu446Ter) c.1255G>T (p.Glu419Ter) | |
| 11 | g.2165323C= | CA1948003604 | TH | c.1243G= (p.Glu415=) c.*932G= (n.*932G=) c.961G= (p.Glu321=) c.1324G= (p.Glu442=) c.1336G= (p.Glu446=) c.1255G= (p.Glu419=) | |
| 11 | g.2165323C>G | CA379125214 | TH | c.1243G>C (p.Glu415Gln) c.*932G>C (n.*932G>C) c.961G>C (p.Glu321Gln) c.1324G>C (p.Glu442Gln) c.1336G>C (p.Glu446Gln) c.1255G>C (p.Glu419Gln) | |
| 11 | g.2165323C>T | CA379125215 | TH | c.1243G>A (p.Glu415Lys) c.*932G>A (n.*932G>A) c.961G>A (p.Glu321Lys) c.1324G>A (p.Glu442Lys) c.1336G>A (p.Glu446Lys) c.1255G>A (p.Glu419Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2165324A= | CA1948003612 | TH | c.1242T= (p.Pro414=) c.*931T= (n.*931T=) c.960T= (p.Pro320=) c.1323T= (p.Pro441=) c.1335T= (p.Pro445=) c.1254T= (p.Pro418=) | |
| 11 | g.2165324A>C | CA472033956 | TH | c.1242T>G (p.Pro414=) c.*931T>G (n.*931T>G) c.960T>G (p.Pro320=) c.1323T>G (p.Pro441=) c.1335T>G (p.Pro445=) c.1254T>G (p.Pro418=) | |
| 11 | g.2165324A>G | CA216282897 | TH | c.1242T>C (p.Pro414=) c.*931T>C (n.*931T>C) c.960T>C (p.Pro320=) c.1323T>C (p.Pro441=) c.1335T>C (p.Pro445=) c.1254T>C (p.Pro418=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2165324A>T | CA472033957 | TH | c.1242T>A (p.Pro414=) c.*931T>A (n.*931T>A) c.960T>A (p.Pro320=) c.1323T>A (p.Pro441=) c.1335T>A (p.Pro445=) c.1254T>A (p.Pro418=) | |
| 11 | g.2165325G>A | CA379125221 | TH | c.1241C>T (p.Pro414Leu) c.*930C>T (n.*930C>T) c.959C>T (p.Pro320Leu) c.1322C>T (p.Pro441Leu) c.1334C>T (p.Pro445Leu) c.1253C>T (p.Pro418Leu) | |
| 11 | g.2165325G>C | CA379125220 | TH | c.1241C>G (p.Pro414Arg) c.*930C>G (n.*930C>G) c.959C>G (p.Pro320Arg) c.1322C>G (p.Pro441Arg) c.1334C>G (p.Pro445Arg) c.1253C>G (p.Pro418Arg) | |
| 11 | g.2165325G>T | CA379125218 | TH | c.1241C>A (p.Pro414His) c.*930C>A (n.*930C>A) c.959C>A (p.Pro320His) c.1322C>A (p.Pro441His) c.1334C>A (p.Pro445His) c.1253C>A (p.Pro418His) | gnomAD v4 |
| 11 | g.2165326G>A | CA379125224 | TH | c.1240C>T (p.Pro414Ser) c.*929C>T (n.*929C>T) c.958C>T (p.Pro320Ser) c.1321C>T (p.Pro441Ser) c.1333C>T (p.Pro445Ser) c.1252C>T (p.Pro418Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2165326G>C | CA379125226 | TH | c.1240C>G (p.Pro414Ala) c.*929C>G (n.*929C>G) c.958C>G (p.Pro320Ala) c.1321C>G (p.Pro441Ala) c.1333C>G (p.Pro445Ala) c.1252C>G (p.Pro418Ala) | |
| 11 | g.2165326G= | CA1948003614 | TH | c.1240C= (p.Pro414=) c.*929C= (n.*929C=) c.958C= (p.Pro320=) c.1321C= (p.Pro441=) c.1333C= (p.Pro445=) c.1252C= (p.Pro418=) | |
| 11 | g.2165326G>T | CA379125228 | TH | c.1240C>A (p.Pro414Thr) c.*929C>A (n.*929C>A) c.958C>A (p.Pro320Thr) c.1321C>A (p.Pro441Thr) c.1333C>A (p.Pro445Thr) c.1252C>A (p.Pro418Thr) | |
| 11 | g.2165327G>A | CA472033959 | TH | c.1239C>T (p.Asp413=) c.*928C>T (n.*928C>T) c.957C>T (p.Asp319=) c.1320C>T (p.Asp440=) c.1332C>T (p.Asp444=) c.1251C>T (p.Asp417=) | ClinVar dbSNP |
| 11 | g.2165327G>C | CA379125230 | TH | c.1239C>G (p.Asp413Glu) c.*928C>G (n.*928C>G) c.957C>G (p.Asp319Glu) c.1320C>G (p.Asp440Glu) c.1332C>G (p.Asp444Glu) c.1251C>G (p.Asp417Glu) | |
| 11 | g.2165327G>T | CA379125232 | TH | c.1239C>A (p.Asp413Glu) c.*928C>A (n.*928C>A) c.957C>A (p.Asp319Glu) c.1320C>A (p.Asp440Glu) c.1332C>A (p.Asp444Glu) c.1251C>A (p.Asp417Glu) | |
| 11 | g.2165328T>A | CA379125235 | TH | c.1238A>T (p.Asp413Val) c.*927A>T (n.*927A>T) c.956A>T (p.Asp319Val) c.1319A>T (p.Asp440Val) c.1331A>T (p.Asp444Val) c.1250A>T (p.Asp417Val) | |
| 11 | g.2165328T>C | CA379125237 | TH | c.1238A>G (p.Asp413Gly) c.*927A>G (n.*927A>G) c.956A>G (p.Asp319Gly) c.1319A>G (p.Asp440Gly) c.1331A>G (p.Asp444Gly) c.1250A>G (p.Asp417Gly) | |
| 11 | g.2165328T>G | CA379125238 | TH | c.1238A>C (p.Asp413Ala) c.*927A>C (n.*927A>C) c.956A>C (p.Asp319Ala) c.1319A>C (p.Asp440Ala) c.1331A>C (p.Asp444Ala) c.1250A>C (p.Asp417Ala) | dbSNP |
| 11 | g.2165328T= | CA1948003617 | TH | c.1238A= (p.Asp413=) c.*927A= (n.*927A=) c.956A= (p.Asp319=) c.1319A= (p.Asp440=) c.1331A= (p.Asp444=) c.1250A= (p.Asp417=) | |
| 11 | g.2165330_2165342del | CA2611972109 | TH | c.1226_1238del (p.Ile409ThrfsTer?) c.*915_*927del (n.*915_*927del) c.944_956del (p.Ile315ThrfsTer?) c.1307_1319del (p.Ile436ThrfsTer?) c.1319_1331del (p.Ile440ThrfsTer?) c.1238_1250del (p.Ile413ThrfsTer?) | gnomAD v4 |
| 11 | g.2165329C>A | CA379125240 | TH | c.1237G>T (p.Asp413Tyr) c.*926G>T (n.*926G>T) c.955G>T (p.Asp319Tyr) c.1318G>T (p.Asp440Tyr) c.1330G>T (p.Asp444Tyr) c.1249G>T (p.Asp417Tyr) | |
| 11 | g.2165329C= | CA1948003620 | TH | c.1237G= (p.Asp413=) c.*926G= (n.*926G=) c.955G= (p.Asp319=) c.1318G= (p.Asp440=) c.1330G= (p.Asp444=) c.1249G= (p.Asp417=) | |
| 11 | g.2165329C>G | CA379125247 | TH | c.1237G>C (p.Asp413His) c.*926G>C (n.*926G>C) c.955G>C (p.Asp319His) c.1318G>C (p.Asp440His) c.1330G>C (p.Asp444His) c.1249G>C (p.Asp417His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165329C>T | CA5818319 | TH | c.1237G>A (p.Asp413Asn) c.*926G>A (n.*926G>A) c.955G>A (p.Asp319Asn) c.1318G>A (p.Asp440Asn) c.1330G>A (p.Asp444Asn) c.1249G>A (p.Asp417Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165330G>A | CA5818320 | TH | c.1236C>T (p.Phe412=) c.*925C>T (n.*925C>T) c.954C>T (p.Phe318=) c.1317C>T (p.Phe439=) c.1329C>T (p.Phe443=) c.1248C>T (p.Phe416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165330G>C | CA379125255 | TH | c.1236C>G (p.Phe412Leu) c.*925C>G (n.*925C>G) c.954C>G (p.Phe318Leu) c.1317C>G (p.Phe439Leu) c.1329C>G (p.Phe443Leu) c.1248C>G (p.Phe416Leu) | |
| 11 | g.2165330G= | CA1948003623 | TH | c.1236C= (p.Phe412=) c.*925C= (n.*925C=) c.954C= (p.Phe318=) c.1317C= (p.Phe439=) c.1329C= (p.Phe443=) c.1248C= (p.Phe416=) | |
| 11 | g.2165330G>T | CA379125257 | TH | c.1236C>A (p.Phe412Leu) c.*925C>A (n.*925C>A) c.954C>A (p.Phe318Leu) c.1317C>A (p.Phe439Leu) c.1329C>A (p.Phe443Leu) c.1248C>A (p.Phe416Leu) | ClinVar dbSNP |
| 11 | g.2165331A>C | CA379125261 | TH | c.1235T>G (p.Phe412Cys) c.*924T>G (n.*924T>G) c.953T>G (p.Phe318Cys) c.1316T>G (p.Phe439Cys) c.1328T>G (p.Phe443Cys) c.1247T>G (p.Phe416Cys) | |
| 11 | g.2165331A>G | CA379125263 | TH | c.1235T>C (p.Phe412Ser) c.*924T>C (n.*924T>C) c.953T>C (p.Phe318Ser) c.1316T>C (p.Phe439Ser) c.1328T>C (p.Phe443Ser) c.1247T>C (p.Phe416Ser) | |
| 11 | g.2165331A>T | CA379125259 | TH | c.1235T>A (p.Phe412Tyr) c.*924T>A (n.*924T>A) c.953T>A (p.Phe318Tyr) c.1316T>A (p.Phe439Tyr) c.1328T>A (p.Phe443Tyr) c.1247T>A (p.Phe416Tyr) | |
| 11 | g.2165332A>C | CA379125268 | TH | c.1234T>G (p.Phe412Val) c.*923T>G (n.*923T>G) c.952T>G (p.Phe318Val) c.1315T>G (p.Phe439Val) c.1327T>G (p.Phe443Val) c.1246T>G (p.Phe416Val) | |
| 11 | g.2165332A>G | CA379125266 | TH | c.1234T>C (p.Phe412Leu) c.*923T>C (n.*923T>C) c.952T>C (p.Phe318Leu) c.1315T>C (p.Phe439Leu) c.1327T>C (p.Phe443Leu) c.1246T>C (p.Phe416Leu) | |
| 11 | g.2165332A>T | CA379125269 | TH | c.1234T>A (p.Phe412Ile) c.*923T>A (n.*923T>A) c.952T>A (p.Phe318Ile) c.1315T>A (p.Phe439Ile) c.1327T>A (p.Phe443Ile) c.1246T>A (p.Phe416Ile) | |
| 11 | g.2165333G>A | CA5818321 | TH | c.1233C>T (p.Ala411=) c.*922C>T (n.*922C>T) c.951C>T (p.Ala317=) c.1314C>T (p.Ala438=) c.1326C>T (p.Ala442=) c.1245C>T (p.Ala415=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165333G>C | CA472033963 | TH | c.1233C>G (p.Ala411=) c.*922C>G (n.*922C>G) c.951C>G (p.Ala317=) c.1314C>G (p.Ala438=) c.1326C>G (p.Ala442=) c.1245C>G (p.Ala415=) | |
| 11 | g.2165333G= | CA1948003627 | TH | c.1233C= (p.Ala411=) c.*922C= (n.*922C=) c.951C= (p.Ala317=) c.1314C= (p.Ala438=) c.1326C= (p.Ala442=) c.1245C= (p.Ala415=) | |
| 11 | g.2165333G>T | CA472033965 | TH | c.1233C>A (p.Ala411=) c.*922C>A (n.*922C>A) c.951C>A (p.Ala317=) c.1314C>A (p.Ala438=) c.1326C>A (p.Ala442=) c.1245C>A (p.Ala415=) | |
| 11 | g.2165334G>A | CA379125272 | TH | c.1232C>T (p.Ala411Val) c.*921C>T (n.*921C>T) c.950C>T (p.Ala317Val) c.1313C>T (p.Ala438Val) c.1325C>T (p.Ala442Val) c.1244C>T (p.Ala415Val) | dbSNP gnomAD v4 |
| 11 | g.2165334G>C | CA379125274 | TH | c.1232C>G (p.Ala411Gly) c.*921C>G (n.*921C>G) c.950C>G (p.Ala317Gly) c.1313C>G (p.Ala438Gly) c.1325C>G (p.Ala442Gly) c.1244C>G (p.Ala415Gly) | gnomAD v4 |
| 11 | g.2165334G= | CA1948003635 | TH | c.1232C= (p.Ala411=) c.*921C= (n.*921C=) c.950C= (p.Ala317=) c.1313C= (p.Ala438=) c.1325C= (p.Ala442=) c.1244C= (p.Ala415=) | |
| 11 | g.2165334G>T | CA5818323 | TH | c.1232C>A (p.Ala411Asp) c.*921C>A (n.*921C>A) c.950C>A (p.Ala317Asp) c.1313C>A (p.Ala438Asp) c.1325C>A (p.Ala442Asp) c.1244C>A (p.Ala415Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2165334_2165335del | CA2611972110 | TH | c.1231_1232del (p.Ala411LeufsTer4) c.*920_*921del (n.*920_*921del) c.949_950del (p.Ala317LeufsTer4) c.1312_1313del (p.Ala438LeufsTer4) c.1324_1325del (p.Ala442LeufsTer4) c.1243_1244del (p.Ala415LeufsTer4) | gnomAD v4 |
| 11 | g.2165334_2165335delinsGC | CA1948003633 | TH | c.1231_1232delinsGC (p.Ala411=) c.*920_*921delinsGC (n.*920_*921delinsGC) c.949_950delinsGC (p.Ala317=) c.1312_1313delinsGC (p.Ala438=) c.1324_1325delinsGC (p.Ala442=) c.1243_1244delinsGC (p.Ala415=) | |
| 11 | g.2165335C>A | CA379125278 | TH | c.1231G>T (p.Ala411Ser) c.*920G>T (n.*920G>T) c.949G>T (p.Ala317Ser) c.1312G>T (p.Ala438Ser) c.1324G>T (p.Ala442Ser) c.1243G>T (p.Ala415Ser) | |
| 11 | g.2165335C= | CA1948003642 | TH | c.1231G= (p.Ala411=) c.*920G= (n.*920G=) c.949G= (p.Ala317=) c.1312G= (p.Ala438=) c.1324G= (p.Ala442=) c.1243G= (p.Ala415=) | |
| 11 | g.2165335C>G | CA379125279 | TH | c.1231G>C (p.Ala411Pro) c.*920G>C (n.*920G>C) c.949G>C (p.Ala317Pro) c.1312G>C (p.Ala438Pro) c.1324G>C (p.Ala442Pro) c.1243G>C (p.Ala415Pro) | dbSNP |
| 11 | g.2165335C>T | CA379125280 | TH | c.1231G>A (p.Ala411Thr) c.*920G>A (n.*920G>A) c.949G>A (p.Ala317Thr) c.1312G>A (p.Ala438Thr) c.1324G>A (p.Ala442Thr) c.1243G>A (p.Ala415Thr) | gnomAD v4 |
| 11 | g.2165337del | CA5818322 | TH | c.1231del (p.Ala411ProfsTer?) c.*920del (n.*920del) c.949del (p.Ala317ProfsTer?) c.1312del (p.Ala438ProfsTer?) c.1324del (p.Ala442ProfsTer?) c.1243del (p.Ala415ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2165336C>A | CA472033969 | TH | c.1230G>T (p.Arg410=) c.*919G>T (n.*919G>T) c.948G>T (p.Arg316=) c.1311G>T (p.Arg437=) c.1323G>T (p.Arg441=) c.1242G>T (p.Arg414=) | |
| 11 | g.2165336C= | CA1948003645 | TH | c.1230G= (p.Arg410=) c.*919G= (n.*919G=) c.948G= (p.Arg316=) c.1311G= (p.Arg437=) c.1323G= (p.Arg441=) c.1242G= (p.Arg414=) | |
| 11 | g.2165336C>G | CA472033970 | TH | c.1230G>C (p.Arg410=) c.*919G>C (n.*919G>C) c.948G>C (p.Arg316=) c.1311G>C (p.Arg437=) c.1323G>C (p.Arg441=) c.1242G>C (p.Arg414=) | |
| 11 | g.2165336C>T | CA472033971 | TH | c.1230G>A (p.Arg410=) c.*919G>A (n.*919G>A) c.948G>A (p.Arg316=) c.1311G>A (p.Arg437=) c.1323G>A (p.Arg441=) c.1242G>A (p.Arg414=) | dbSNP |
| 11 | g.2165337C>A | CA379125281 | TH | c.1229G>T (p.Arg410Leu) c.*918G>T (n.*918G>T) c.947G>T (p.Arg316Leu) c.1310G>T (p.Arg437Leu) c.1322G>T (p.Arg441Leu) c.1241G>T (p.Arg414Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2165337C= | CA1948003648 | TH | c.1229G= (p.Arg410=) c.*918G= (n.*918G=) c.947G= (p.Arg316=) c.1310G= (p.Arg437=) c.1322G= (p.Arg441=) c.1241G= (p.Arg414=) | |
| 11 | g.2165337C>G | CA5818325 | TH | c.1229G>C (p.Arg410Pro) c.*918G>C (n.*918G>C) c.947G>C (p.Arg316Pro) c.1310G>C (p.Arg437Pro) c.1322G>C (p.Arg441Pro) c.1241G>C (p.Arg414Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165337C>T | CA5818324 | TH | c.1229G>A (p.Arg410Gln) c.*918G>A (n.*918G>A) c.947G>A (p.Arg316Gln) c.1310G>A (p.Arg437Gln) c.1322G>A (p.Arg441Gln) c.1241G>A (p.Arg414Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165338G>A | CA5818327 | TH | c.1228C>T (p.Arg410Trp) c.*917C>T (n.*917C>T) c.946C>T (p.Arg316Trp) c.1309C>T (p.Arg437Trp) c.1321C>T (p.Arg441Trp) c.1240C>T (p.Arg414Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165338G>C | CA379125285 | TH | c.1228C>G (p.Arg410Gly) c.*917C>G (n.*917C>G) c.946C>G (p.Arg316Gly) c.1309C>G (p.Arg437Gly) c.1321C>G (p.Arg441Gly) c.1240C>G (p.Arg414Gly) | gnomAD v4 |
| 11 | g.2165338G= | CA1948003658 | TH | c.1228C= (p.Arg410=) c.*917C= (n.*917C=) c.946C= (p.Arg316=) c.1309C= (p.Arg437=) c.1321C= (p.Arg441=) c.1240C= (p.Arg414=) | |
| 11 | g.2165338G>T | CA5818326 | TH | c.1228C>A (p.Arg410=) c.*917C>A (n.*917C>A) c.946C>A (p.Arg316=) c.1309C>A (p.Arg437=) c.1321C>A (p.Arg441=) c.1240C>A (p.Arg414=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165339A= | CA1948003667 | TH | c.1227T= (p.Ile409=) c.*916T= (n.*916T=) c.945T= (p.Ile315=) c.1308T= (p.Ile436=) c.1320T= (p.Ile440=) c.1239T= (p.Ile413=) | |
| 11 | g.2165339A>C | CA379125286 | TH | c.1227T>G (p.Ile409Met) c.*916T>G (n.*916T>G) c.945T>G (p.Ile315Met) c.1308T>G (p.Ile436Met) c.1320T>G (p.Ile440Met) c.1239T>G (p.Ile413Met) | |
| 11 | g.2165339A>G | CA5818328 | TH | c.1227T>C (p.Ile409=) c.*916T>C (n.*916T>C) c.945T>C (p.Ile315=) c.1308T>C (p.Ile436=) c.1320T>C (p.Ile440=) c.1239T>C (p.Ile413=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165339A>T | CA472033972 | TH | c.1227T>A (p.Ile409=) c.*916T>A (n.*916T>A) c.945T>A (p.Ile315=) c.1308T>A (p.Ile436=) c.1320T>A (p.Ile440=) c.1239T>A (p.Ile413=) | |
| 11 | g.2165340A= | CA1948003672 | TH | c.1226T= (p.Ile409=) c.*915T= (n.*915T=) c.944T= (p.Ile315=) c.1307T= (p.Ile436=) c.1319T= (p.Ile440=) c.1238T= (p.Ile413=) | |
| 11 | g.2165340A>C | CA379125291 | TH | c.1226T>G (p.Ile409Ser) c.*915T>G (n.*915T>G) c.944T>G (p.Ile315Ser) c.1307T>G (p.Ile436Ser) c.1319T>G (p.Ile440Ser) c.1238T>G (p.Ile413Ser) | |
| 11 | g.2165340A>G | CA5818329 | TH | c.1226T>C (p.Ile409Thr) c.*915T>C (n.*915T>C) c.944T>C (p.Ile315Thr) c.1307T>C (p.Ile436Thr) c.1319T>C (p.Ile440Thr) c.1238T>C (p.Ile413Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2165340A>T | CA379125293 | TH | c.1226T>A (p.Ile409Asn) c.*915T>A (n.*915T>A) c.944T>A (p.Ile315Asn) c.1307T>A (p.Ile436Asn) c.1319T>A (p.Ile440Asn) c.1238T>A (p.Ile413Asn) | |
| 11 | g.2165341T>A | CA216282980 | TH | c.1225A>T (p.Ile409Phe) c.*914A>T (n.*914A>T) c.943A>T (p.Ile315Phe) c.1306A>T (p.Ile436Phe) c.1318A>T (p.Ile440Phe) c.1237A>T (p.Ile413Phe) | dbSNP gnomAD v4 |
| 11 | g.2165341T>C | CA379125294 | TH | c.1225A>G (p.Ile409Val) c.*914A>G (n.*914A>G) c.943A>G (p.Ile315Val) c.1306A>G (p.Ile436Val) c.1318A>G (p.Ile440Val) c.1237A>G (p.Ile413Val) | dbSNP gnomAD v2 |
| 11 | g.2165341T>G | CA379125295 | TH | c.1225A>C (p.Ile409Leu) c.*914A>C (n.*914A>C) c.943A>C (p.Ile315Leu) c.1306A>C (p.Ile436Leu) c.1318A>C (p.Ile440Leu) c.1237A>C (p.Ile413Leu) | |
| 11 | g.2165341T= | CA1948003676 | TH | c.1225A= (p.Ile409=) c.*914A= (n.*914A=) c.943A= (p.Ile315=) c.1306A= (p.Ile436=) c.1318A= (p.Ile440=) c.1237A= (p.Ile413=) | |
| 11 | g.2165342C>A | CA379125296 | TH | c.1224G>T (p.Glu408Asp) c.*913G>T (n.*913G>T) c.942G>T (p.Glu314Asp) c.1305G>T (p.Glu435Asp) c.1317G>T (p.Glu439Asp) c.1236G>T (p.Glu412Asp) | |
| 11 | g.2165342C= | CA1948003682 | TH | c.1224G= (p.Glu408=) c.*913G= (n.*913G=) c.942G= (p.Glu314=) c.1305G= (p.Glu435=) c.1317G= (p.Glu439=) c.1236G= (p.Glu412=) | |
| 11 | g.2165342C>G | CA379125297 | TH | c.1224G>C (p.Glu408Asp) c.*913G>C (n.*913G>C) c.942G>C (p.Glu314Asp) c.1305G>C (p.Glu435Asp) c.1317G>C (p.Glu439Asp) c.1236G>C (p.Glu412Asp) | |
| 11 | g.2165342C>T | CA216282982 | TH | c.1224G>A (p.Glu408=) c.*913G>A (n.*913G>A) c.942G>A (p.Glu314=) c.1305G>A (p.Glu435=) c.1317G>A (p.Glu439=) c.1236G>A (p.Glu412=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2165343T>A | CA379125298 | TH | c.1223A>T (p.Glu408Val) c.*912A>T (n.*912A>T) c.941A>T (p.Glu314Val) c.1304A>T (p.Glu435Val) c.1316A>T (p.Glu439Val) c.1235A>T (p.Glu412Val) | |
| 11 | g.2165343T>C | CA379125300 | TH | c.1223A>G (p.Glu408Gly) c.*912A>G (n.*912A>G) c.941A>G (p.Glu314Gly) c.1304A>G (p.Glu435Gly) c.1316A>G (p.Glu439Gly) c.1235A>G (p.Glu412Gly) | |
| 11 | g.2165343T>G | CA379125301 | TH | c.1223A>C (p.Glu408Ala) c.*912A>C (n.*912A>C) c.941A>C (p.Glu314Ala) c.1304A>C (p.Glu435Ala) c.1316A>C (p.Glu439Ala) c.1235A>C (p.Glu412Ala) | COSMIC |
| 11 | g.2165344C>A | CA379125307 | TH | c.1222G>T (p.Glu408Ter) c.*911G>T (n.*911G>T) c.940G>T (p.Glu314Ter) c.1303G>T (p.Glu435Ter) c.1315G>T (p.Glu439Ter) c.1234G>T (p.Glu412Ter) | |
| 11 | g.2165344C>G | CA379125305 | TH | c.1222G>C (p.Glu408Gln) c.*911G>C (n.*911G>C) c.940G>C (p.Glu314Gln) c.1303G>C (p.Glu435Gln) c.1315G>C (p.Glu439Gln) c.1234G>C (p.Glu412Gln) | |
| 11 | g.2165344C>T | CA379125303 | TH | c.1222G>A (p.Glu408Lys) c.*911G>A (n.*911G>A) c.940G>A (p.Glu314Lys) c.1303G>A (p.Glu435Lys) c.1315G>A (p.Glu439Lys) c.1234G>A (p.Glu412Lys) | |
| 11 | g.2165345A>C | CA472033973 | TH | c.1221T>G (p.Pro407=) c.*910T>G (n.*910T>G) c.939T>G (p.Pro313=) c.1302T>G (p.Pro434=) c.1314T>G (p.Pro438=) c.1233T>G (p.Pro411=) | |
| 11 | g.2165345A>G | CA472033974 | TH | c.1221T>C (p.Pro407=) c.*910T>C (n.*910T>C) c.939T>C (p.Pro313=) c.1302T>C (p.Pro434=) c.1314T>C (p.Pro438=) c.1233T>C (p.Pro411=) | dbSNP |
| 11 | g.2165345A>T | CA472033975 | TH | c.1221T>A (p.Pro407=) c.*910T>A (n.*910T>A) c.939T>A (p.Pro313=) c.1302T>A (p.Pro434=) c.1314T>A (p.Pro438=) c.1233T>A (p.Pro411=) | |
| 11 | g.2165346G>A | CA379125309 | TH | c.1220C>T (p.Pro407Leu) c.*909C>T (n.*909C>T) c.938C>T (p.Pro313Leu) c.1301C>T (p.Pro434Leu) c.1313C>T (p.Pro438Leu) c.1232C>T (p.Pro411Leu) | gnomAD v4 |
| 11 | g.2165346G>C | CA379125311 | TH | c.1220C>G (p.Pro407Arg) c.*909C>G (n.*909C>G) c.938C>G (p.Pro313Arg) c.1301C>G (p.Pro434Arg) c.1313C>G (p.Pro438Arg) c.1232C>G (p.Pro411Arg) | |
| 11 | g.2165346G>T | CA379125313 | TH | c.1220C>A (p.Pro407His) c.*909C>A (n.*909C>A) c.938C>A (p.Pro313His) c.1301C>A (p.Pro434His) c.1313C>A (p.Pro438His) c.1232C>A (p.Pro411His) | |
| 11 | g.2165347del | CA2611972128 | TH | c.1220del (p.Pro407LeufsTer?) c.*909del (n.*909del) c.938del (p.Pro313LeufsTer?) c.1301del (p.Pro434LeufsTer?) c.1313del (p.Pro438LeufsTer?) c.1232del (p.Pro411LeufsTer?) | gnomAD v4 |
| 11 | g.2165347G>A | CA379125315 | TH | c.1219C>T (p.Pro407Ser) c.*908C>T (n.*908C>T) c.937C>T (p.Pro313Ser) c.1300C>T (p.Pro434Ser) c.1312C>T (p.Pro438Ser) c.1231C>T (p.Pro411Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2165347G>C | CA5818330 | TH | c.1219C>G (p.Pro407Ala) c.*908C>G (n.*908C>G) c.937C>G (p.Pro313Ala) c.1300C>G (p.Pro434Ala) c.1312C>G (p.Pro438Ala) c.1231C>G (p.Pro411Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165347G= | CA1948003686 | TH | c.1219C= (p.Pro407=) c.*908C= (n.*908C=) c.937C= (p.Pro313=) c.1300C= (p.Pro434=) c.1312C= (p.Pro438=) c.1231C= (p.Pro411=) | |
| 11 | g.2165347G>T | CA379125317 | TH | c.1219C>A (p.Pro407Thr) c.*908C>A (n.*908C>A) c.937C>A (p.Pro313Thr) c.1300C>A (p.Pro434Thr) c.1312C>A (p.Pro438Thr) c.1231C>A (p.Pro411Thr) | |
| 11 | g.2165348C>A | CA379125319 | TH | c.1218G>T (p.Glu406Asp) c.*907G>T (n.*907G>T) c.936G>T (p.Glu312Asp) c.1299G>T (p.Glu433Asp) c.1311G>T (p.Glu437Asp) c.1230G>T (p.Glu410Asp) | |
| 11 | g.2165348C>G | CA379125321 | TH | c.1218G>C (p.Glu406Asp) c.*907G>C (n.*907G>C) c.936G>C (p.Glu312Asp) c.1299G>C (p.Glu433Asp) c.1311G>C (p.Glu437Asp) c.1230G>C (p.Glu410Asp) | |
| 11 | g.2165348C>T | CA472033979 | TH | c.1218G>A (p.Glu406=) c.*907G>A (n.*907G>A) c.936G>A (p.Glu312=) c.1299G>A (p.Glu433=) c.1311G>A (p.Glu437=) c.1230G>A (p.Glu410=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2165349T>A | CA379125325 | TH | c.1217A>T (p.Glu406Val) c.*906A>T (n.*906A>T) c.935A>T (p.Glu312Val) c.1298A>T (p.Glu433Val) c.1310A>T (p.Glu437Val) c.1229A>T (p.Glu410Val) | |
| 11 | g.2165349T>C | CA379125326 | TH | c.1217A>G (p.Glu406Gly) c.*906A>G (n.*906A>G) c.935A>G (p.Glu312Gly) c.1298A>G (p.Glu433Gly) c.1310A>G (p.Glu437Gly) c.1229A>G (p.Glu410Gly) | |
| 11 | g.2165349T>G | CA379125328 | TH | c.1217A>C (p.Glu406Ala) c.*906A>C (n.*906A>C) c.935A>C (p.Glu312Ala) c.1298A>C (p.Glu433Ala) c.1310A>C (p.Glu437Ala) c.1229A>C (p.Glu410Ala) | |
| 11 | g.2165350C>A | CA379125329 | TH | c.1216G>T (p.Glu406Ter) c.*905G>T (n.*905G>T) c.934G>T (p.Glu312Ter) c.1297G>T (p.Glu433Ter) c.1309G>T (p.Glu437Ter) c.1228G>T (p.Glu410Ter) | dbSNP |
| 11 | g.2165350C= | CA1948003690 | TH | c.1216G= (p.Glu406=) c.*905G= (n.*905G=) c.934G= (p.Glu312=) c.1297G= (p.Glu433=) c.1309G= (p.Glu437=) c.1228G= (p.Glu410=) | |
| 11 | g.2165350C>G | CA379125330 | TH | c.1216G>C (p.Glu406Gln) c.*905G>C (n.*905G>C) c.934G>C (p.Glu312Gln) c.1297G>C (p.Glu433Gln) c.1309G>C (p.Glu437Gln) c.1228G>C (p.Glu410Gln) | |
| 11 | g.2165350C>T | CA379125332 | TH | c.1216G>A (p.Glu406Lys) c.*905G>A (n.*905G>A) c.934G>A (p.Glu312Lys) c.1297G>A (p.Glu433Lys) c.1309G>A (p.Glu437Lys) c.1228G>A (p.Glu410Lys) | |
| 11 | g.2165350_2165351del | CA2546534292 | TH | c.1215_1216del (p.Glu406AlafsTer2) c.*904_*905del (n.*904_*905del) c.933_934del (p.Glu312AlafsTer2) c.1296_1297del (p.Glu433AlafsTer2) c.1308_1309del (p.Glu437AlafsTer2) c.1227_1228del (p.Glu410AlafsTer2) | |
| 11 | g.2165351C>A | CA379125333 | TH | c.1215G>T (p.Glu405Asp) c.*904G>T (n.*904G>T) c.933G>T (p.Glu311Asp) c.1296G>T (p.Glu432Asp) c.1308G>T (p.Glu436Asp) c.1227G>T (p.Glu409Asp) | |
| 11 | g.2165351C= | CA1948003693 | TH | c.1215G= (p.Glu405=) c.*904G= (n.*904G=) c.933G= (p.Glu311=) c.1296G= (p.Glu432=) c.1308G= (p.Glu436=) c.1227G= (p.Glu409=) | |
| 11 | g.2165351C>G | CA379125335 | TH | c.1215G>C (p.Glu405Asp) c.*904G>C (n.*904G>C) c.933G>C (p.Glu311Asp) c.1296G>C (p.Glu432Asp) c.1308G>C (p.Glu436Asp) c.1227G>C (p.Glu409Asp) | |
| 11 | g.2165351C>T | CA472033981 | TH | c.1215G>A (p.Glu405=) c.*904G>A (n.*904G>A) c.933G>A (p.Glu311=) c.1296G>A (p.Glu432=) c.1308G>A (p.Glu436=) c.1227G>A (p.Glu409=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2165352T>A | CA379125337 | TH | c.1214A>T (p.Glu405Val) c.*903A>T (n.*903A>T) c.932A>T (p.Glu311Val) c.1295A>T (p.Glu432Val) c.1307A>T (p.Glu436Val) c.1226A>T (p.Glu409Val) | |
| 11 | g.2165352T>C | CA379125338 | TH | c.1214A>G (p.Glu405Gly) c.*903A>G (n.*903A>G) c.932A>G (p.Glu311Gly) c.1295A>G (p.Glu432Gly) c.1307A>G (p.Glu436Gly) c.1226A>G (p.Glu409Gly) | |
| 11 | g.2165352T>G | CA379125339 | TH | c.1214A>C (p.Glu405Ala) c.*903A>C (n.*903A>C) c.932A>C (p.Glu311Ala) c.1295A>C (p.Glu432Ala) c.1307A>C (p.Glu436Ala) c.1226A>C (p.Glu409Ala) | |
| 11 | g.2165353C>A | CA379125340 | TH | c.1213G>T (p.Glu405Ter) c.*902G>T (n.*902G>T) c.931G>T (p.Glu311Ter) c.1294G>T (p.Glu432Ter) c.1306G>T (p.Glu436Ter) c.1225G>T (p.Glu409Ter) | |
| 11 | g.2165353C>G | CA379125342 | TH | c.1213G>C (p.Glu405Gln) c.*902G>C (n.*902G>C) c.931G>C (p.Glu311Gln) c.1294G>C (p.Glu432Gln) c.1306G>C (p.Glu436Gln) c.1225G>C (p.Glu409Gln) | |
| 11 | g.2165353C>T | CA379125347 | TH | c.1213G>A (p.Glu405Lys) c.*902G>A (n.*902G>A) c.931G>A (p.Glu311Lys) c.1294G>A (p.Glu432Lys) c.1306G>A (p.Glu436Lys) c.1225G>A (p.Glu409Lys) | |
| 11 | g.2165356_2165359del | CA2573146041 | TH | c.1210_1213del (p.Ser404ArgfsTer?) c.*899_*902del (n.*899_*902del) c.928_931del (p.Ser310ArgfsTer?) c.1291_1294del (p.Ser431ArgfsTer?) c.1303_1306del (p.Ser435ArgfsTer?) c.1222_1225del (p.Ser408ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2165354A>C | CA472033982 | TH | c.1212T>G (p.Ser404=) c.*901T>G (n.*901T>G) c.930T>G (p.Ser310=) c.1293T>G (p.Ser431=) c.1305T>G (p.Ser435=) c.1224T>G (p.Ser408=) | |
| 11 | g.2165354A>G | CA472033983 | TH | c.1212T>C (p.Ser404=) c.*901T>C (n.*901T>C) c.930T>C (p.Ser310=) c.1293T>C (p.Ser431=) c.1305T>C (p.Ser435=) c.1224T>C (p.Ser408=) | |
| 11 | g.2165354A>T | CA472033984 | TH | c.1212T>A (p.Ser404=) c.*901T>A (n.*901T>A) c.930T>A (p.Ser310=) c.1293T>A (p.Ser431=) c.1305T>A (p.Ser435=) c.1224T>A (p.Ser408=) | |
| 11 | g.2165355G>A | CA379125349 | TH | c.1211C>T (p.Ser404Phe) c.*900C>T (n.*900C>T) c.929C>T (p.Ser310Phe) c.1292C>T (p.Ser431Phe) c.1304C>T (p.Ser435Phe) c.1223C>T (p.Ser408Phe) | gnomAD v4 |
| 11 | g.2165355G>C | CA379125351 | TH | c.1211C>G (p.Ser404Cys) c.*900C>G (n.*900C>G) c.929C>G (p.Ser310Cys) c.1292C>G (p.Ser431Cys) c.1304C>G (p.Ser435Cys) c.1223C>G (p.Ser408Cys) | |
| 11 | g.2165355G>T | CA379125353 | TH | c.1211C>A (p.Ser404Tyr) c.*900C>A (n.*900C>A) c.929C>A (p.Ser310Tyr) c.1292C>A (p.Ser431Tyr) c.1304C>A (p.Ser435Tyr) c.1223C>A (p.Ser408Tyr) | |
| 11 | g.2165356A>C | CA379125356 | TH | c.1210T>G (p.Ser404Ala) c.*899T>G (n.*899T>G) c.928T>G (p.Ser310Ala) c.1291T>G (p.Ser431Ala) c.1303T>G (p.Ser435Ala) c.1222T>G (p.Ser408Ala) | |
| 11 | g.2165356A>G | CA379125358 | TH | c.1210T>C (p.Ser404Pro) c.*899T>C (n.*899T>C) c.928T>C (p.Ser310Pro) c.1291T>C (p.Ser431Pro) c.1303T>C (p.Ser435Pro) c.1222T>C (p.Ser408Pro) | |
| 11 | g.2165356A>T | CA379125359 | TH | c.1210T>A (p.Ser404Thr) c.*899T>A (n.*899T>A) c.928T>A (p.Ser310Thr) c.1291T>A (p.Ser431Thr) c.1303T>A (p.Ser435Thr) c.1222T>A (p.Ser408Thr) | |
| 11 | g.2165357C>A | CA472033985 | TH | c.1209G>T (p.Leu403=) c.*898G>T (n.*898G>T) c.927G>T (p.Leu309=) c.1290G>T (p.Leu430=) c.1302G>T (p.Leu434=) c.1221G>T (p.Leu407=) | |
| 11 | g.2165357C= | CA1948003696 | TH | c.1209G= (p.Leu403=) c.*898G= (n.*898G=) c.927G= (p.Leu309=) c.1290G= (p.Leu430=) c.1302G= (p.Leu434=) c.1221G= (p.Leu407=) | |
| 11 | g.2165357C>G | CA472033986 | TH | c.1209G>C (p.Leu403=) c.*898G>C (n.*898G>C) c.927G>C (p.Leu309=) c.1290G>C (p.Leu430=) c.1302G>C (p.Leu434=) c.1221G>C (p.Leu407=) | ClinVar |
| 11 | g.2165357C>T | CA472033987 | TH | c.1209G>A (p.Leu403=) c.*898G>A (n.*898G>A) c.927G>A (p.Leu309=) c.1290G>A (p.Leu430=) c.1302G>A (p.Leu434=) c.1221G>A (p.Leu407=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.2165358A>C | CA379125362 | TH | c.1208T>G (p.Leu403Arg) c.*897T>G (n.*897T>G) c.926T>G (p.Leu309Arg) c.1289T>G (p.Leu430Arg) c.1301T>G (p.Leu434Arg) c.1220T>G (p.Leu407Arg) | |
| 11 | g.2165358A>G | CA379125361 | TH | c.1208T>C (p.Leu403Pro) c.*897T>C (n.*897T>C) c.926T>C (p.Leu309Pro) c.1289T>C (p.Leu430Pro) c.1301T>C (p.Leu434Pro) c.1220T>C (p.Leu407Pro) | |
| 11 | g.2165358A>T | CA379125360 | TH | c.1208T>A (p.Leu403Gln) c.*897T>A (n.*897T>A) c.926T>A (p.Leu309Gln) c.1289T>A (p.Leu430Gln) c.1301T>A (p.Leu434Gln) c.1220T>A (p.Leu407Gln) | |
| 11 | g.2165359G>A | CA472033991 | TH | c.1207C>T (p.Leu403=) c.*896C>T (n.*896C>T) c.925C>T (p.Leu309=) c.1288C>T (p.Leu430=) c.1300C>T (p.Leu434=) c.1219C>T (p.Leu407=) | gnomAD v4 |
| 11 | g.2165359G>C | CA379125364 | TH | c.1207C>G (p.Leu403Val) c.*896C>G (n.*896C>G) c.925C>G (p.Leu309Val) c.1288C>G (p.Leu430Val) c.1300C>G (p.Leu434Val) c.1219C>G (p.Leu407Val) | |
| 11 | g.2165359G>T | CA379125363 | TH | c.1207C>A (p.Leu403Met) c.*896C>A (n.*896C>A) c.925C>A (p.Leu309Met) c.1288C>A (p.Leu430Met) c.1300C>A (p.Leu434Met) c.1219C>A (p.Leu407Met) | |
| 11 | g.2165360G>A | CA472033992 | TH | c.1206C>T (p.Cys402=) c.*895C>T (n.*895C>T) c.924C>T (p.Cys308=) c.1287C>T (p.Cys429=) c.1299C>T (p.Cys433=) c.1218C>T (p.Cys406=) | |
| 11 | g.2165360G>C | CA379125369 | TH | c.1206C>G (p.Cys402Trp) c.*895C>G (n.*895C>G) c.924C>G (p.Cys308Trp) c.1287C>G (p.Cys429Trp) c.1299C>G (p.Cys433Trp) c.1218C>G (p.Cys406Trp) | |
| 11 | g.2165360G>T | CA379125366 | TH | c.1206C>A (p.Cys402Ter) c.*895C>A (n.*895C>A) c.924C>A (p.Cys308Ter) c.1287C>A (p.Cys429Ter) c.1299C>A (p.Cys433Ter) c.1218C>A (p.Cys406Ter) | |
| 11 | g.2165361C>A | CA379125372 | TH | c.1205G>T (p.Cys402Phe) c.*894G>T (n.*894G>T) c.923G>T (p.Cys308Phe) c.1286G>T (p.Cys429Phe) c.1298G>T (p.Cys433Phe) c.1217G>T (p.Cys406Phe) | |
| 11 | g.2165361C>G | CA379125373 | TH | c.1205G>C (p.Cys402Ser) c.*894G>C (n.*894G>C) c.923G>C (p.Cys308Ser) c.1286G>C (p.Cys429Ser) c.1298G>C (p.Cys433Ser) c.1217G>C (p.Cys406Ser) | |
| 11 | g.2165361C>T | CA379125375 | TH | c.1205G>A (p.Cys402Tyr) c.*894G>A (n.*894G>A) c.923G>A (p.Cys308Tyr) c.1286G>A (p.Cys429Tyr) c.1298G>A (p.Cys433Tyr) c.1217G>A (p.Cys406Tyr) | gnomAD v4 |
| 11 | g.2165362A>C | CA379125378 | TH | c.1204T>G (p.Cys402Gly) c.*893T>G (n.*893T>G) c.922T>G (p.Cys308Gly) c.1285T>G (p.Cys429Gly) c.1297T>G (p.Cys433Gly) c.1216T>G (p.Cys406Gly) | |
| 11 | g.2165362A>G | CA379125380 | TH | c.1204T>C (p.Cys402Arg) c.*893T>C (n.*893T>C) c.922T>C (p.Cys308Arg) c.1285T>C (p.Cys429Arg) c.1297T>C (p.Cys433Arg) c.1216T>C (p.Cys406Arg) | |
| 11 | g.2165362A>T | CA379125382 | TH | c.1204T>A (p.Cys402Ser) c.*893T>A (n.*893T>A) c.922T>A (p.Cys308Ser) c.1285T>A (p.Cys429Ser) c.1297T>A (p.Cys433Ser) c.1216T>A (p.Cys406Ser) | |
| 11 | g.2165363G>A | CA5818331 | TH | c.1203C>T (p.His401=) c.*892C>T (n.*892C>T) c.921C>T (p.His307=) c.1284C>T (p.His428=) c.1296C>T (p.His432=) c.1215C>T (p.His405=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2165363G>C | CA379125387 | TH | c.1203C>G (p.His401Gln) c.*892C>G (n.*892C>G) c.921C>G (p.His307Gln) c.1284C>G (p.His428Gln) c.1296C>G (p.His432Gln) c.1215C>G (p.His405Gln) | gnomAD v4 |
| 11 | g.2165363G= | CA1948003698 | TH | c.1203C= (p.His401=) c.*892C= (n.*892C=) c.921C= (p.His307=) c.1284C= (p.His428=) c.1296C= (p.His432=) c.1215C= (p.His405=) | |
| 11 | g.2165363G>T | CA379125389 | TH | c.1203C>A (p.His401Gln) c.*892C>A (n.*892C>A) c.921C>A (p.His307Gln) c.1284C>A (p.His428Gln) c.1296C>A (p.His432Gln) c.1215C>A (p.His405Gln) | |
| 11 | g.2165364T>A | CA379125392 | TH | c.1202A>T (p.His401Leu) c.*891A>T (n.*891A>T) c.920A>T (p.His307Leu) c.1283A>T (p.His428Leu) c.1295A>T (p.His432Leu) c.1214A>T (p.His405Leu) | |
| 11 | g.2165364T>C | CA379125393 | TH | c.1202A>G (p.His401Arg) c.*891A>G (n.*891A>G) c.920A>G (p.His307Arg) c.1283A>G (p.His428Arg) c.1295A>G (p.His432Arg) c.1214A>G (p.His405Arg) | gnomAD v4 |
| 11 | g.2165364T>G | CA379125395 | TH | c.1202A>C (p.His401Pro) c.*891A>C (n.*891A>C) c.920A>C (p.His307Pro) c.1283A>C (p.His428Pro) c.1295A>C (p.His432Pro) c.1214A>C (p.His405Pro) | |
| 11 | g.2165365G>A | CA379125402 | TH | c.1201C>T (p.His401Tyr) c.*890C>T (n.*890C>T) c.919C>T (p.His307Tyr) c.1282C>T (p.His428Tyr) c.1294C>T (p.His432Tyr) c.1213C>T (p.His405Tyr) | dbSNP |
| 11 | g.2165365G>C | CA379125398 | TH | c.1201C>G (p.His401Asp) c.*890C>G (n.*890C>G) c.919C>G (p.His307Asp) c.1282C>G (p.His428Asp) c.1294C>G (p.His432Asp) c.1213C>G (p.His405Asp) | |
| 11 | g.2165365G= | CA1948003703 | TH | c.1201C= (p.His401=) c.*890C= (n.*890C=) c.919C= (p.His307=) c.1282C= (p.His428=) c.1294C= (p.His432=) c.1213C= (p.His405=) | |
| 11 | g.2165365G>T | CA379125400 | TH | c.1201C>A (p.His401Asn) c.*890C>A (n.*890C>A) c.919C>A (p.His307Asn) c.1282C>A (p.His428Asn) c.1294C>A (p.His432Asn) c.1213C>A (p.His405Asn) | |
| 11 | g.2165366C>A | CA379125405 | TH | c.1201-1G>T (n.1201-1G>T) c.*890-1G>T (n.*890-1G>T) c.919-1G>T (n.919-1G>T) c.1282-1G>T (n.1282-1G>T) c.1294-1G>T (n.1294-1G>T) c.1213-1G>T (n.1213-1G>T) | |
| 11 | g.2165366C>G | CA379125407 | TH | c.1201-1G>C (n.1201-1G>C) c.*890-1G>C (n.*890-1G>C) c.919-1G>C (n.919-1G>C) c.1282-1G>C (n.1282-1G>C) c.1294-1G>C (n.1294-1G>C) c.1213-1G>C (n.1213-1G>C) | |
| 11 | g.2165366C>T | CA379125409 | TH | c.1201-1G>A (n.1201-1G>A) c.*890-1G>A (n.*890-1G>A) c.919-1G>A (n.919-1G>A) c.1282-1G>A (n.1282-1G>A) c.1294-1G>A (n.1294-1G>A) c.1213-1G>A (n.1213-1G>A) | ClinVar dbSNP |
| 11 | g.2165366_2165367delinsGG | CA2573146042 | TH | c.1201-2_1201-1delinsCC (n.1201-2_1201-1delinsCC) c.*890-2_*890-1delinsCC (n.*890-2_*890-1delinsCC) c.919-2_919-1delinsCC (n.919-2_919-1delinsCC) c.1282-2_1282-1delinsCC (n.1282-2_1282-1delinsCC) c.1294-2_1294-1delinsCC (n.1294-2_1294-1delinsCC) c.1213-2_1213-1delinsCC (n.1213-2_1213-1delinsCC) | ClinVar dbSNP |
| 11 | g.2165367T>A | CA379125412 | TH | c.1201-2A>T (n.1201-2A>T) c.*890-2A>T (n.*890-2A>T) c.919-2A>T (n.919-2A>T) c.1282-2A>T (n.1282-2A>T) c.1294-2A>T (n.1294-2A>T) c.1213-2A>T (n.1213-2A>T) | |
| 11 | g.2165367T>C | CA379125414 | TH | c.1201-2A>G (n.1201-2A>G) c.*890-2A>G (n.*890-2A>G) c.919-2A>G (n.919-2A>G) c.1282-2A>G (n.1282-2A>G) c.1294-2A>G (n.1294-2A>G) c.1213-2A>G (n.1213-2A>G) | |
| 11 | g.2165367T>G | CA379125416 | TH | c.1201-2A>C (n.1201-2A>C) c.*890-2A>C (n.*890-2A>C) c.919-2A>C (n.919-2A>C) c.1282-2A>C (n.1282-2A>C) c.1294-2A>C (n.1294-2A>C) c.1213-2A>C (n.1213-2A>C) | |
| 11 | g.2165368G>A | CA597089638 | TH | c.1201-3C>T (n.1201-3C>T) c.*890-3C>T (n.*890-3C>T) c.919-3C>T (n.919-3C>T) c.1282-3C>T (n.1282-3C>T) c.1294-3C>T (n.1294-3C>T) c.1213-3C>T (n.1213-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165368G= | CA1948003705 | TH | c.1201-3C= (n.1201-3C=) c.*890-3C= (n.*890-3C=) c.919-3C= (n.919-3C=) c.1282-3C= (n.1282-3C=) c.1294-3C= (n.1294-3C=) c.1213-3C= (n.1213-3C=) | |
| 11 | g.2165368G>T | CA2611972218 | TH | c.1201-3C>A (n.1201-3C>A) c.*890-3C>A (n.*890-3C>A) c.919-3C>A (n.919-3C>A) c.1282-3C>A (n.1282-3C>A) c.1294-3C>A (n.1294-3C>A) c.1213-3C>A (n.1213-3C>A) | gnomAD v4 |
| 11 | g.2165369G>C | CA2739276090 | TH | c.1201-4C>G (n.1201-4C>G) c.*890-4C>G (n.*890-4C>G) c.919-4C>G (n.919-4C>G) c.1282-4C>G (n.1282-4C>G) c.1294-4C>G (n.1294-4C>G) c.1213-4C>G (n.1213-4C>G) | ClinVar |
| 11 | g.2165369G>T | CA2611972222 | TH | c.1201-4C>A (n.1201-4C>A) c.*890-4C>A (n.*890-4C>A) c.919-4C>A (n.919-4C>A) c.1282-4C>A (n.1282-4C>A) c.1294-4C>A (n.1294-4C>A) c.1213-4C>A (n.1213-4C>A) | ClinVar gnomAD v4 |
| 11 | g.2165370C>A | CA2611972228 | TH | c.1201-5G>T (n.1201-5G>T) c.*890-5G>T (n.*890-5G>T) c.919-5G>T (n.919-5G>T) c.1282-5G>T (n.1282-5G>T) c.1294-5G>T (n.1294-5G>T) c.1213-5G>T (n.1213-5G>T) | gnomAD v4 |
| 11 | g.2165370C= | CA1948003707 | TH | c.1201-5G= (n.1201-5G=) c.*890-5G= (n.*890-5G=) c.919-5G= (n.919-5G=) c.1282-5G= (n.1282-5G=) c.1294-5G= (n.1294-5G=) c.1213-5G= (n.1213-5G=) | |
| 11 | g.2165370C>T | CA645569407 | TH | c.1201-5G>A (n.1201-5G>A) c.*890-5G>A (n.*890-5G>A) c.919-5G>A (n.919-5G>A) c.1282-5G>A (n.1282-5G>A) c.1294-5G>A (n.1294-5G>A) c.1213-5G>A (n.1213-5G>A) | dbSNP gnomAD v4 COSMIC |
| 11 | g.2165371A>G | CA2565506347 | TH | c.1201-6T>C (n.1201-6T>C) c.*890-6T>C (n.*890-6T>C) c.919-6T>C (n.919-6T>C) c.1282-6T>C (n.1282-6T>C) c.1294-6T>C (n.1294-6T>C) c.1213-6T>C (n.1213-6T>C) | |
| 11 | g.2165374_2165376del | CA2580615597 | TH | c.1201-8_1201-6del (n.1201-8_1201-6del) c.*890-8_*890-6del (n.*890-8_*890-6del) c.919-8_919-6del (n.919-8_919-6del) c.1282-8_1282-6del (n.1282-8_1282-6del) c.1294-8_1294-6del (n.1294-8_1294-6del) c.1213-8_1213-6del (n.1213-8_1213-6del) | ClinVar dbSNP |
| 11 | g.2165372G>A | CA674604769 | TH | c.1201-7C>T (n.1201-7C>T) c.*890-7C>T (n.*890-7C>T) c.919-7C>T (n.919-7C>T) c.1282-7C>T (n.1282-7C>T) c.1294-7C>T (n.1294-7C>T) c.1213-7C>T (n.1213-7C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2165372G= | CA1948003709 | TH | c.1201-7C= (n.1201-7C=) c.*890-7C= (n.*890-7C=) c.919-7C= (n.919-7C=) c.1282-7C= (n.1282-7C=) c.1294-7C= (n.1294-7C=) c.1213-7C= (n.1213-7C=) | |
| 11 | g.2165373G>A | CA5818332 | TH | c.1201-8C>T (n.1201-8C>T) c.*890-8C>T (n.*890-8C>T) c.919-8C>T (n.919-8C>T) c.1282-8C>T (n.1282-8C>T) c.1294-8C>T (n.1294-8C>T) c.1213-8C>T (n.1213-8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165373G= | CA1948003710 | TH | c.1201-8C= (n.1201-8C=) c.*890-8C= (n.*890-8C=) c.919-8C= (n.919-8C=) c.1282-8C= (n.1282-8C=) c.1294-8C= (n.1294-8C=) c.1213-8C= (n.1213-8C=) | |
| 11 | g.2165373G>T | CA2611972232 | TH | c.1201-8C>A (n.1201-8C>A) c.*890-8C>A (n.*890-8C>A) c.919-8C>A (n.919-8C>A) c.1282-8C>A (n.1282-8C>A) c.1294-8C>A (n.1294-8C>A) c.1213-8C>A (n.1213-8C>A) | gnomAD v4 |
| 11 | g.2165374A= | CA1948003713 | TH | c.1201-9T= (n.1201-9T=) c.*890-9T= (n.*890-9T=) c.919-9T= (n.919-9T=) c.1282-9T= (n.1282-9T=) c.1294-9T= (n.1294-9T=) c.1213-9T= (n.1213-9T=) | |
| 11 | g.2165374A>C | CA674604788 | TH | c.1201-9T>G (n.1201-9T>G) c.*890-9T>G (n.*890-9T>G) c.919-9T>G (n.919-9T>G) c.1282-9T>G (n.1282-9T>G) c.1294-9T>G (n.1294-9T>G) c.1213-9T>G (n.1213-9T>G) | dbSNP |
| 11 | g.2165375G>A | CA5818333 | TH | c.1201-10C>T (n.1201-10C>T) c.*890-10C>T (n.*890-10C>T) c.919-10C>T (n.919-10C>T) c.1282-10C>T (n.1282-10C>T) c.1294-10C>T (n.1294-10C>T) c.1213-10C>T (n.1213-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165375G>C | CA2499220851 | TH | c.1201-10C>G (n.1201-10C>G) c.*890-10C>G (n.*890-10C>G) c.919-10C>G (n.919-10C>G) c.1282-10C>G (n.1282-10C>G) c.1294-10C>G (n.1294-10C>G) c.1213-10C>G (n.1213-10C>G) | ClinVar dbSNP |
| 11 | g.2165375G= | CA1948003718 | TH | c.1201-10C= (n.1201-10C=) c.*890-10C= (n.*890-10C=) c.919-10C= (n.919-10C=) c.1282-10C= (n.1282-10C=) c.1294-10C= (n.1294-10C=) c.1213-10C= (n.1213-10C=) | |
| 11 | g.2165375G>T | CA5818334 | TH | c.1201-10C>A (n.1201-10C>A) c.*890-10C>A (n.*890-10C>A) c.919-10C>A (n.919-10C>A) c.1282-10C>A (n.1282-10C>A) c.1294-10C>A (n.1294-10C>A) c.1213-10C>A (n.1213-10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165376G>A | CA2611972242 | TH | c.1201-11C>T (n.1201-11C>T) c.*890-11C>T (n.*890-11C>T) c.919-11C>T (n.919-11C>T) c.1282-11C>T (n.1282-11C>T) c.1294-11C>T (n.1294-11C>T) c.1213-11C>T (n.1213-11C>T) | gnomAD v4 |
| 11 | g.2165376G>C | CA1948003721 | TH | c.1201-11C>G (n.1201-11C>G) c.*890-11C>G (n.*890-11C>G) c.919-11C>G (n.919-11C>G) c.1282-11C>G (n.1282-11C>G) c.1294-11C>G (n.1294-11C>G) c.1213-11C>G (n.1213-11C>G) | dbSNP |
| 11 | g.2165376G= | CA1948003720 | TH | c.1201-11C= (n.1201-11C=) c.*890-11C= (n.*890-11C=) c.919-11C= (n.919-11C=) c.1282-11C= (n.1282-11C=) c.1294-11C= (n.1294-11C=) c.1213-11C= (n.1213-11C=) | |
| 11 | g.2165377C= | CA1948003723 | TH | c.1201-12G= (n.1201-12G=) c.*890-12G= (n.*890-12G=) c.919-12G= (n.919-12G=) c.1282-12G= (n.1282-12G=) c.1294-12G= (n.1294-12G=) c.1213-12G= (n.1213-12G=) | |
| 11 | g.2165377C>T | CA216283017 | TH | c.1201-12G>A (n.1201-12G>A) c.*890-12G>A (n.*890-12G>A) c.919-12G>A (n.919-12G>A) c.1282-12G>A (n.1282-12G>A) c.1294-12G>A (n.1294-12G>A) c.1213-12G>A (n.1213-12G>A) | dbSNP gnomAD v4 |
| 11 | g.2165379A= | CA1948003725 | TH | c.1201-14T= (n.1201-14T=) c.*890-14T= (n.*890-14T=) c.919-14T= (n.919-14T=) c.1282-14T= (n.1282-14T=) c.1294-14T= (n.1294-14T=) c.1213-14T= (n.1213-14T=) | |
| 11 | g.2165379A>C | CA1948003726 | TH | c.1201-14T>G (n.1201-14T>G) c.*890-14T>G (n.*890-14T>G) c.919-14T>G (n.919-14T>G) c.1282-14T>G (n.1282-14T>G) c.1294-14T>G (n.1294-14T>G) c.1213-14T>G (n.1213-14T>G) | dbSNP |
| 11 | g.2165381T>C | CA5818335 | TH | c.1201-16A>G (n.1201-16A>G) c.*890-16A>G (n.*890-16A>G) c.919-16A>G (n.919-16A>G) c.1282-16A>G (n.1282-16A>G) c.1294-16A>G (n.1294-16A>G) c.1213-16A>G (n.1213-16A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2165381T= | CA1948003728 | TH | c.1201-16A= (n.1201-16A=) c.*890-16A= (n.*890-16A=) c.919-16A= (n.919-16A=) c.1282-16A= (n.1282-16A=) c.1294-16A= (n.1294-16A=) c.1213-16A= (n.1213-16A=) | |
| 11 | g.2165382G>A | CA216283037 | TH | c.1201-17C>T (n.1201-17C>T) c.*890-17C>T (n.*890-17C>T) c.919-17C>T (n.919-17C>T) c.1282-17C>T (n.1282-17C>T) c.1294-17C>T (n.1294-17C>T) c.1213-17C>T (n.1213-17C>T) | dbSNP |
| 11 | g.2165382G= | CA1948003730 | TH | c.1201-17C= (n.1201-17C=) c.*890-17C= (n.*890-17C=) c.919-17C= (n.919-17C=) c.1282-17C= (n.1282-17C=) c.1294-17C= (n.1294-17C=) c.1213-17C= (n.1213-17C=) | |
| 11 | g.2165383G>A | CA597089653 | TH | c.1201-18C>T (n.1201-18C>T) c.*890-18C>T (n.*890-18C>T) c.919-18C>T (n.919-18C>T) c.1282-18C>T (n.1282-18C>T) c.1294-18C>T (n.1294-18C>T) c.1213-18C>T (n.1213-18C>T) | dbSNP gnomAD v2 |
| 11 | g.2165383G= | CA1948003733 | TH | c.1201-18C= (n.1201-18C=) c.*890-18C= (n.*890-18C=) c.919-18C= (n.919-18C=) c.1282-18C= (n.1282-18C=) c.1294-18C= (n.1294-18C=) c.1213-18C= (n.1213-18C=) | |
| 11 | g.2165383G>T | CA2611972254 | TH | c.1201-18C>A (n.1201-18C>A) c.*890-18C>A (n.*890-18C>A) c.919-18C>A (n.919-18C>A) c.1282-18C>A (n.1282-18C>A) c.1294-18C>A (n.1294-18C>A) c.1213-18C>A (n.1213-18C>A) | gnomAD v4 |
| 11 | g.2165384C>T | CA2611972256 | TH | c.1201-19G>A (n.1201-19G>A) c.*890-19G>A (n.*890-19G>A) c.919-19G>A (n.919-19G>A) c.1282-19G>A (n.1282-19G>A) c.1294-19G>A (n.1294-19G>A) c.1213-19G>A (n.1213-19G>A) | gnomAD v4 |
| 11 | g.2165385A>T | CA2611972259 | TH | c.1201-20T>A (n.1201-20T>A) c.*890-20T>A (n.*890-20T>A) c.919-20T>A (n.919-20T>A) c.1282-20T>A (n.1282-20T>A) c.1294-20T>A (n.1294-20T>A) c.1213-20T>A (n.1213-20T>A) | gnomAD v4 |
| 11 | g.2165387C= | CA1948003735 | TH | c.1201-22G= (n.1201-22G=) c.*890-22G= (n.*890-22G=) c.919-22G= (n.919-22G=) c.1282-22G= (n.1282-22G=) c.1294-22G= (n.1294-22G=) c.1213-22G= (n.1213-22G=) | |
| 11 | g.2165387C>G | CA216283043 | TH | c.1201-22G>C (n.1201-22G>C) c.*890-22G>C (n.*890-22G>C) c.919-22G>C (n.919-22G>C) c.1282-22G>C (n.1282-22G>C) c.1294-22G>C (n.1294-22G>C) c.1213-22G>C (n.1213-22G>C) | dbSNP |