UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.149482940_149483166del | CA2695236488 | IDS | c.1234_1460del (p.Gly412HisfsTer11) c.601_827del (p.Gly201HisfsTer11) c.964_1190del (p.Gly322HisfsTer11) | |
| X | g.149482943_149482964dup | CA2499226408 | IDS | c.1436_1457dup (p.Ile487AlafsTer19) c.803_824dup (p.Ile276AlafsTer19) c.1166_1187dup (p.Ile397AlafsTer19) | ClinVar dbSNP |
| X | g.149482949C>A | CA414518064 | IDS | c.1450G>T (p.Asp484Tyr) c.817G>T (p.Asp273Tyr) c.1180G>T (p.Asp394Tyr) | |
| X | g.149482949C>G | CA414518065 | IDS | c.1450G>C (p.Asp484His) c.817G>C (p.Asp273His) c.1180G>C (p.Asp394His) | gnomAD v4 |
| X | g.149482949C>T | CA414518066 | IDS | c.1450G>A (p.Asp484Asn) c.817G>A (p.Asp273Asn) c.1180G>A (p.Asp394Asn) | |
| X | g.149482952_149482964del | CA519057486 | IDS | c.1438_1450del (p.Pro480IlefsTer2) c.805_817del (p.Pro269IlefsTer2) c.1168_1180del (p.Pro390IlefsTer2) | |
| X | g.149482949_149483122del | CA2580101611 | IDS | c.1277_1450del (p.Ser426_Asp484delinsTyr) c.644_817del (p.Ser215_Asp273delinsTyr) c.1007_1180del (p.Ser336_Asp394delinsTyr) | ClinVar |
| X | g.149482950T>A | CA414518067 | IDS | c.1449A>T (p.Lys483Asn) c.816A>T (p.Lys272Asn) c.1179A>T (p.Lys393Asn) | |
| X | g.149482950T>C | CA519057487 | IDS | c.1449A>G (p.Lys483=) c.816A>G (p.Lys272=) c.1179A>G (p.Lys393=) | |
| X | g.149482950T>G | CA414518068 | IDS | c.1449A>C (p.Lys483Asn) c.816A>C (p.Lys272Asn) c.1179A>C (p.Lys393Asn) | |
| X | g.149482953del | CA645610074 | IDS | c.1449del (p.Asp484IlefsTer2) c.816del (p.Asp273IlefsTer2) c.1179del (p.Asp394IlefsTer2) | COSMIC |
| X | g.149482951T>A | CA414518071 | IDS | c.1448A>T (p.Lys483Ile) c.815A>T (p.Lys272Ile) c.1178A>T (p.Lys393Ile) | |
| X | g.149482951T>C | CA414518069 | IDS | c.1448A>G (p.Lys483Arg) c.815A>G (p.Lys272Arg) c.1178A>G (p.Lys393Arg) | |
| X | g.149482951T>G | CA414518070 | IDS | c.1448A>C (p.Lys483Thr) c.815A>C (p.Lys272Thr) c.1178A>C (p.Lys393Thr) | |
| X | g.149482952T>A | CA414518072 | IDS | c.1447A>T (p.Lys483Ter) c.814A>T (p.Lys272Ter) c.1177A>T (p.Lys393Ter) | |
| X | g.149482952T>C | CA414518073 | IDS | c.1447A>G (p.Lys483Glu) c.814A>G (p.Lys272Glu) c.1177A>G (p.Lys393Glu) | ClinVar dbSNP |
| X | g.149482952T>G | CA414518074 | IDS | c.1447A>C (p.Lys483Gln) c.814A>C (p.Lys272Gln) c.1177A>C (p.Lys393Gln) | |
| X | g.149482953T>A | CA414518075 | IDS | c.1446A>T (p.Leu482Phe) c.813A>T (p.Leu271Phe) c.1176A>T (p.Leu392Phe) | |
| X | g.149482953T>C | CA519057488 | IDS | c.1446A>G (p.Leu482=) c.813A>G (p.Leu271=) c.1176A>G (p.Leu392=) | |
| X | g.149482953T>G | CA414518076 | IDS | c.1446A>C (p.Leu482Phe) c.813A>C (p.Leu271Phe) c.1176A>C (p.Leu392Phe) | |
| X | g.149482954A>C | CA414518079 | IDS | c.1445T>G (p.Leu482Ter) c.812T>G (p.Leu271Ter) c.1175T>G (p.Leu392Ter) | ClinVar |
| X | g.149482954A>G | CA414518078 | IDS | c.1445T>C (p.Leu482Ser) c.812T>C (p.Leu271Ser) c.1175T>C (p.Leu392Ser) | |
| X | g.149482954A>T | CA414518077 | IDS | c.1445T>A (p.Leu482Ter) c.812T>A (p.Leu271Ter) c.1175T>A (p.Leu392Ter) | |
| X | g.149482955_149482956dup | CA2695236490 | IDS | c.1444_1445dup (p.Leu482PhefsTer2) c.811_812dup (p.Leu271PhefsTer2) c.1174_1175dup (p.Leu392PhefsTer2) | |
| X | g.149482955A= | CA2465003987 | IDS | c.1444T= (p.Leu482=) c.811T= (p.Leu271=) c.1174T= (p.Leu392=) | |
| X | g.149482955A>C | CA414518080 | IDS | c.1444T>G (p.Leu482Val) c.811T>G (p.Leu271Val) c.1174T>G (p.Leu392Val) | |
| X | g.149482955A>G | CA519057489 | IDS | c.1444T>C (p.Leu482=) c.811T>C (p.Leu271=) c.1174T>C (p.Leu392=) | |
| X | g.149482955A>T | CA10537444 | IDS | c.1444T>A (p.Leu482Ile) c.811T>A (p.Leu271Ile) c.1174T>A (p.Leu392Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482955_149482956insTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGG | CA10537445 | IDS | c.1443_1444insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA (p.Leu482ProfsTer24) c.810_811insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA (p.Leu271ProfsTer24) c.1173_1174insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA (p.Leu392ProfsTer24) | ExAC |
| X | g.149482956A>C | CA414518081 | IDS | c.1443T>G (p.Ser481Arg) c.810T>G (p.Ser270Arg) c.1173T>G (p.Ser391Arg) | |
| X | g.149482956A>G | CA519057490 | IDS | c.1443T>C (p.Ser481=) c.810T>C (p.Ser270=) c.1173T>C (p.Ser391=) | ClinVar |
| X | g.149482956A>T | CA414518082 | IDS | c.1443T>A (p.Ser481Arg) c.810T>A (p.Ser270Arg) c.1173T>A (p.Ser391Arg) | |
| X | g.149482956_149482961delinsACTCGG | CA2465003988 | IDS | c.1438_1443delinsCCGAGT (p.Pro480=) c.805_810delinsCCGAGT (p.Pro269=) c.1168_1173delinsCCGAGT (p.Pro390=) | |
| X | g.149482957C>A | CA414518083 | IDS | c.1442G>T (p.Ser481Ile) c.809G>T (p.Ser270Ile) c.1172G>T (p.Ser391Ile) | |
| X | g.149482957C>G | CA414518085 | IDS | c.1442G>C (p.Ser481Thr) c.809G>C (p.Ser270Thr) c.1172G>C (p.Ser391Thr) | |
| X | g.149482957C>T | CA414518084 | IDS | c.1442G>A (p.Ser481Asn) c.809G>A (p.Ser270Asn) c.1172G>A (p.Ser391Asn) | |
| X | g.149482957delinsGA | CA2499226409 | IDS | c.1442delinsTC (p.Ser481IlefsTer18) c.809delinsTC (p.Ser270IlefsTer18) c.1172delinsTC (p.Ser391IlefsTer18) | ClinVar dbSNP |
| X | g.149482959_149482963del | CA2465003989 | IDS | c.1438_1442del (p.Pro480PhefsTer17) c.805_809del (p.Pro269PhefsTer17) c.1168_1172del (p.Pro390PhefsTer17) | ClinVar dbSNP |
| X | g.149482958T>A | CA414518086 | IDS | c.1441A>T (p.Ser481Cys) c.808A>T (p.Ser270Cys) c.1171A>T (p.Ser391Cys) | |
| X | g.149482958T>C | CA414518087 | IDS | c.1441A>G (p.Ser481Gly) c.808A>G (p.Ser270Gly) c.1171A>G (p.Ser391Gly) | |
| X | g.149482958T>G | CA414518088 | IDS | c.1441A>C (p.Ser481Arg) c.808A>C (p.Ser270Arg) c.1171A>C (p.Ser391Arg) | |
| X | g.149482959C>A | CA519173757 | IDS | c.1440G>T (p.Pro480=) c.807G>T (p.Pro269=) c.1170G>T (p.Pro390=) | |
| X | g.149482959C= | CA2465003990 | IDS | c.1440G= (p.Pro480=) c.807G= (p.Pro269=) c.1170G= (p.Pro390=) | |
| X | g.149482959C>G | CA519173761 | IDS | c.1440G>C (p.Pro480=) c.807G>C (p.Pro269=) c.1170G>C (p.Pro390=) | |
| X | g.149482959C>T | CA519173762 | IDS | c.1440G>A (p.Pro480=) c.807G>A (p.Pro269=) c.1170G>A (p.Pro390=) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.149482960G>A | CA414518089 | IDS | c.1439C>T (p.Pro480Leu) c.806C>T (p.Pro269Leu) c.1169C>T (p.Pro390Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.149482960G>C | CA414518090 | IDS | c.1439C>G (p.Pro480Arg) c.806C>G (p.Pro269Arg) c.1169C>G (p.Pro390Arg) | |
| X | g.149482960G>T | CA414518091 | IDS | c.1439C>A (p.Pro480Gln) c.806C>A (p.Pro269Gln) c.1169C>A (p.Pro390Gln) | |
| X | g.149482961G>A | CA10537446 | IDS | c.1438C>T (p.Pro480Ser) c.805C>T (p.Pro269Ser) c.1168C>T (p.Pro390Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482961G>C | CA414518092 | IDS | c.1438C>G (p.Pro480Ala) c.805C>G (p.Pro269Ala) c.1168C>G (p.Pro390Ala) | |
| X | g.149482961G= | CA2465003991 | IDS | c.1438C= (p.Pro480=) c.805C= (p.Pro269=) c.1168C= (p.Pro390=) | |
| X | g.149482961G>T | CA414518093 | IDS | c.1438C>A (p.Pro480Thr) c.805C>A (p.Pro269Thr) c.1168C>A (p.Pro390Thr) | |
| X | g.149482961_149482973delinsGCTTGTCAGAATT | CA2465003992 | IDS | c.1426_1438delinsAATTCTGACAAGC (p.Asn476=) c.793_805delinsAATTCTGACAAGC (p.Asn265=) c.1156_1168delinsAATTCTGACAAGC (p.Asn386=) | |
| X | g.149482962C>A | CA414518094 | IDS | c.1437G>T (p.Lys479Asn) c.804G>T (p.Lys268Asn) c.1167G>T (p.Lys389Asn) | |
| X | g.149482962C>G | CA414518095 | IDS | c.1437G>C (p.Lys479Asn) c.804G>C (p.Lys268Asn) c.1167G>C (p.Lys389Asn) | |
| X | g.149482962C>T | CA519173771 | IDS | c.1437G>A (p.Lys479=) c.804G>A (p.Lys268=) c.1167G>A (p.Lys389=) | |
| X | g.149482963_149482974del | CA2465003993 | IDS | c.1426_1437del (p.Asn476_Lys479del) c.793_804del (p.Asn265_Lys268del) c.1156_1167del (p.Asn386_Lys389del) | ClinVar dbSNP |
| X | g.149482963T>A | CA414518096 | IDS | c.1436A>T (p.Lys479Met) c.803A>T (p.Lys268Met) c.1166A>T (p.Lys389Met) | |
| X | g.149482963T>C | CA414518097 | IDS | c.1436A>G (p.Lys479Arg) c.803A>G (p.Lys268Arg) c.1166A>G (p.Lys389Arg) | |
| X | g.149482963T>G | CA414518098 | IDS | c.1436A>C (p.Lys479Thr) c.803A>C (p.Lys268Thr) c.1166A>C (p.Lys389Thr) | |
| X | g.149482964T>A | CA414518099 | IDS | c.1435A>T (p.Lys479Ter) c.802A>T (p.Lys268Ter) c.1165A>T (p.Lys389Ter) | |
| X | g.149482964T>C | CA414518101 | IDS | c.1435A>G (p.Lys479Glu) c.802A>G (p.Lys268Glu) c.1165A>G (p.Lys389Glu) | |
| X | g.149482964T>G | CA414518100 | IDS | c.1435A>C (p.Lys479Gln) c.802A>C (p.Lys268Gln) c.1165A>C (p.Lys389Gln) | |
| X | g.149482965G>A | CA519173775 | IDS | c.1434C>T (p.Asp478=) c.801C>T (p.Asp267=) c.1164C>T (p.Asp388=) | ClinVar gnomAD v4 |
| X | g.149482965G>C | CA414518102 | IDS | c.1434C>G (p.Asp478Glu) c.801C>G (p.Asp267Glu) c.1164C>G (p.Asp388Glu) | |
| X | g.149482965G>T | CA414518103 | IDS | c.1434C>A (p.Asp478Glu) c.801C>A (p.Asp267Glu) c.1164C>A (p.Asp388Glu) | |
| X | g.149482966del | CA2695236491 | IDS | c.1433del (p.Asp478AlafsTer5) c.800del (p.Asp267AlafsTer5) c.1163del (p.Asp388AlafsTer5) | |
| X | g.149482966T>A | CA414518104 | IDS | c.1433A>T (p.Asp478Val) c.800A>T (p.Asp267Val) c.1163A>T (p.Asp388Val) | |
| X | g.149482966T>C | CA349811 | IDS | c.1433A>G (p.Asp478Gly) c.800A>G (p.Asp267Gly) c.1163A>G (p.Asp388Gly) | ClinVar dbSNP |
| X | g.149482966T>G | CA414518105 | IDS | c.1433A>C (p.Asp478Ala) c.800A>C (p.Asp267Ala) c.1163A>C (p.Asp388Ala) | |
| X | g.149482966T= | CA2465003994 | IDS | c.1433A= (p.Asp478=) c.800A= (p.Asp267=) c.1163A= (p.Asp388=) | |
| X | g.149482967C>A | CA414518106 | IDS | c.1432G>T (p.Asp478Tyr) c.799G>T (p.Asp267Tyr) c.1162G>T (p.Asp388Tyr) | |
| X | g.149482967C>G | CA414518107 | IDS | c.1432G>C (p.Asp478His) c.799G>C (p.Asp267His) c.1162G>C (p.Asp388His) | |
| X | g.149482967C>T | CA414518108 | IDS | c.1432G>A (p.Asp478Asn) c.799G>A (p.Asp267Asn) c.1162G>A (p.Asp388Asn) | |
| X | g.149482967_149482968delinsCA | CA2465003995 | IDS | c.1431_1432delinsTG (p.Ser477=) c.798_799delinsTG (p.Ser266=) c.1161_1162delinsTG (p.Ser387=) | |
| X | g.149482968del | CA2465003996 | IDS | c.1431del (p.Asp478ThrfsTer5) c.798del (p.Asp267ThrfsTer5) c.1161del (p.Asp388ThrfsTer5) | ClinVar dbSNP |
| X | g.149482968A>C | CA519173782 | IDS | c.1431T>G (p.Ser477=) c.798T>G (p.Ser266=) c.1161T>G (p.Ser387=) | |
| X | g.149482968A>G | CA519173783 | IDS | c.1431T>C (p.Ser477=) c.798T>C (p.Ser266=) c.1161T>C (p.Ser387=) | |
| X | g.149482968A>T | CA519173784 | IDS | c.1431T>A (p.Ser477=) c.798T>A (p.Ser266=) c.1161T>A (p.Ser387=) | |
| X | g.149482969G>A | CA414518109 | IDS | c.1430C>T (p.Ser477Phe) c.797C>T (p.Ser266Phe) c.1160C>T (p.Ser387Phe) | COSMIC |
| X | g.149482969G>C | CA414518110 | IDS | c.1430C>G (p.Ser477Cys) c.797C>G (p.Ser266Cys) c.1160C>G (p.Ser387Cys) | |
| X | g.149482969G>T | CA414518111 | IDS | c.1430C>A (p.Ser477Tyr) c.797C>A (p.Ser266Tyr) c.1160C>A (p.Ser387Tyr) | |
| X | g.149482970A>C | CA414518112 | IDS | c.1429T>G (p.Ser477Ala) c.796T>G (p.Ser266Ala) c.1159T>G (p.Ser387Ala) | |
| X | g.149482970A>G | CA414518114 | IDS | c.1429T>C (p.Ser477Pro) c.796T>C (p.Ser266Pro) c.1159T>C (p.Ser387Pro) | |
| X | g.149482970A>T | CA414518113 | IDS | c.1429T>A (p.Ser477Thr) c.796T>A (p.Ser266Thr) c.1159T>A (p.Ser387Thr) | |
| X | g.149482971A>C | CA414518115 | IDS | c.1428T>G (p.Asn476Lys) c.795T>G (p.Asn265Lys) c.1158T>G (p.Asn386Lys) | |
| X | g.149482971A>G | CA519173789 | IDS | c.1428T>C (p.Asn476=) c.795T>C (p.Asn265=) c.1158T>C (p.Asn386=) | |
| X | g.149482971A>T | CA414518116 | IDS | c.1428T>A (p.Asn476Lys) c.795T>A (p.Asn265Lys) c.1158T>A (p.Asn386Lys) | |
| X | g.149482972T>A | CA414518117 | IDS | c.1427A>T (p.Asn476Ile) c.794A>T (p.Asn265Ile) c.1157A>T (p.Asn386Ile) | |
| X | g.149482972T>C | CA414518118 | IDS | c.1427A>G (p.Asn476Ser) c.794A>G (p.Asn265Ser) c.1157A>G (p.Asn386Ser) | |
| X | g.149482972T>G | CA414518119 | IDS | c.1427A>C (p.Asn476Thr) c.794A>C (p.Asn265Thr) c.1157A>C (p.Asn386Thr) | |
| X | g.149482973T>A | CA414518120 | IDS | c.1426A>T (p.Asn476Tyr) c.793A>T (p.Asn265Tyr) c.1156A>T (p.Asn386Tyr) | |
| X | g.149482973T>C | CA414518121 | IDS | c.1426A>G (p.Asn476Asp) c.793A>G (p.Asn265Asp) c.1156A>G (p.Asn386Asp) | |
| X | g.149482973T>G | CA414518122 | IDS | c.1426A>C (p.Asn476His) c.793A>C (p.Asn265His) c.1156A>C (p.Asn386His) | |
| X | g.149482974C>A | CA414518123 | IDS | c.1425G>T (p.Trp475Cys) c.792G>T (p.Trp264Cys) c.1155G>T (p.Trp385Cys) | |
| X | g.149482974C= | CA2465003997 | IDS | c.1425G= (p.Trp475=) c.792G= (p.Trp264=) c.1155G= (p.Trp385=) | |
| X | g.149482974C>G | CA414518124 | IDS | c.1425G>C (p.Trp475Cys) c.792G>C (p.Trp264Cys) c.1155G>C (p.Trp385Cys) | |
| X | g.149482974C>T | CA255276 | IDS | c.1425G>A (p.Trp475Ter) c.792G>A (p.Trp264Ter) c.1155G>A (p.Trp385Ter) | ClinVar dbSNP |
| X | g.149482975C>A | CA414518127 | IDS | c.1424G>T (p.Trp475Leu) c.791G>T (p.Trp264Leu) c.1154G>T (p.Trp385Leu) | |
| X | g.149482975C>G | CA414518125 | IDS | c.1424G>C (p.Trp475Ser) c.791G>C (p.Trp264Ser) c.1154G>C (p.Trp385Ser) | |
| X | g.149482975C>T | CA414518126 | IDS | c.1424G>A (p.Trp475Ter) c.791G>A (p.Trp264Ter) c.1154G>A (p.Trp385Ter) | |
| X | g.149482976A>C | CA414518128 | IDS | c.1423T>G (p.Trp475Gly) c.790T>G (p.Trp264Gly) c.1153T>G (p.Trp385Gly) | |
| X | g.149482976A>G | CA414518129 | IDS | c.1423T>C (p.Trp475Arg) c.790T>C (p.Trp264Arg) c.1153T>C (p.Trp385Arg) | |
| X | g.149482976A>T | CA414518130 | IDS | c.1423T>A (p.Trp475Arg) c.790T>A (p.Trp264Arg) c.1153T>A (p.Trp385Arg) | |
| X | g.149482977C>A | CA414518131 | IDS | c.1422G>T (p.Gln474His) c.789G>T (p.Gln263His) c.1152G>T (p.Gln384His) | |
| X | g.149482977C= | CA2465003998 | IDS | c.1422G= (p.Gln474=) c.789G= (p.Gln263=) c.1152G= (p.Gln384=) | |
| X | g.149482977C>G | CA414518132 | IDS | c.1422G>C (p.Gln474His) c.789G>C (p.Gln263His) c.1152G>C (p.Gln384His) | |
| X | g.149482977C>T | CA519173807 | IDS | c.1422G>A (p.Gln474=) c.789G>A (p.Gln263=) c.1152G>A (p.Gln384=) | ClinVar dbSNP gnomAD v4 |
| X | g.149482977_149482978del | CA2695236492 | IDS | c.1421_1422del (p.Gln474LeufsTer4) c.788_789del (p.Gln263LeufsTer4) c.1151_1152del (p.Gln384LeufsTer4) | |
| X | g.149482978T>A | CA414518133 | IDS | c.1421A>T (p.Gln474Leu) c.788A>T (p.Gln263Leu) c.1151A>T (p.Gln384Leu) | |
| X | g.149482978T>C | CA414518134 | IDS | c.1421A>G (p.Gln474Arg) c.788A>G (p.Gln263Arg) c.1151A>G (p.Gln384Arg) | gnomAD v4 |
| X | g.149482978T>G | CA414518135 | IDS | c.1421A>C (p.Gln474Pro) c.788A>C (p.Gln263Pro) c.1151A>C (p.Gln384Pro) | |
| X | g.149482979G>A | CA414518136 | IDS | c.1420C>T (p.Gln474Ter) c.787C>T (p.Gln263Ter) c.1150C>T (p.Gln384Ter) | |
| X | g.149482979G>C | CA414518137 | IDS | c.1420C>G (p.Gln474Glu) c.787C>G (p.Gln263Glu) c.1150C>G (p.Gln384Glu) | |
| X | g.149482979G= | CA2465003999 | IDS | c.1420C= (p.Gln474=) c.787C= (p.Gln263=) c.1150C= (p.Gln384=) | |
| X | g.149482979G>T | CA10537447 | IDS | c.1420C>A (p.Gln474Lys) c.787C>A (p.Gln263Lys) c.1150C>A (p.Gln384Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482980A>C | CA519173813 | IDS | c.1419T>G (p.Pro473=) c.786T>G (p.Pro262=) c.1149T>G (p.Pro383=) | |
| X | g.149482980A>G | CA519173814 | IDS | c.1419T>C (p.Pro473=) c.786T>C (p.Pro262=) c.1149T>C (p.Pro383=) | |
| X | g.149482980A>T | CA519173815 | IDS | c.1419T>A (p.Pro473=) c.786T>A (p.Pro262=) c.1149T>A (p.Pro383=) | |
| X | g.149482981G>A | CA414518139 | IDS | c.1418C>T (p.Pro473Leu) c.785C>T (p.Pro262Leu) c.1148C>T (p.Pro383Leu) | ClinVar dbSNP |
| X | g.[149482981G>A;149482988C>G] | CA2499306187 | IDS | c.[1411G>C;1418C>T] (p.[Asp471His;Pro473Leu]) c.[778G>C;785C>T] (p.[Asp260His;Pro262Leu]) c.[1141G>C;1148C>T] (p.[Asp381His;Pro383Leu]) | ClinVar |
| X | g.149482981G>C | CA414518140 | IDS | c.1418C>G (p.Pro473Arg) c.785C>G (p.Pro262Arg) c.1148C>G (p.Pro383Arg) | |
| X | g.149482981G= | CA2465004000 | IDS | c.1418C= (p.Pro473=) c.785C= (p.Pro262=) c.1148C= (p.Pro383=) | |
| X | g.149482981G>T | CA414518138 | IDS | c.1418C>A (p.Pro473His) c.785C>A (p.Pro262His) c.1148C>A (p.Pro383His) | |
| X | g.149482983del | CA519173820 | IDS | c.1418del (p.Pro473LeufsTer10) c.785del (p.Pro262LeufsTer10) c.1148del (p.Pro383LeufsTer10) | |
| X | g.149482982G>A | CA414518143 | IDS | c.1417C>T (p.Pro473Ser) c.784C>T (p.Pro262Ser) c.1147C>T (p.Pro383Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.149482982G>C | CA414518141 | IDS | c.1417C>G (p.Pro473Ala) c.784C>G (p.Pro262Ala) c.1147C>G (p.Pro383Ala) | |
| X | g.149482982G>T | CA414518142 | IDS | c.1417C>A (p.Pro473Thr) c.784C>A (p.Pro262Thr) c.1147C>A (p.Pro383Thr) | |
| X | g.149482983G>A | CA519173825 | IDS | c.1416C>T (p.Ile472=) c.783C>T (p.Ile261=) c.1146C>T (p.Ile382=) | ClinVar dbSNP gnomAD v4 |
| X | g.149482983G>C | CA414518144 | IDS | c.1416C>G (p.Ile472Met) c.783C>G (p.Ile261Met) c.1146C>G (p.Ile382Met) | |
| X | g.149482983G>T | CA519173827 | IDS | c.1416C>A (p.Ile472=) c.783C>A (p.Ile261=) c.1146C>A (p.Ile382=) | |
| X | g.149482984A>C | CA414518145 | IDS | c.1415T>G (p.Ile472Ser) c.782T>G (p.Ile261Ser) c.1145T>G (p.Ile382Ser) | |
| X | g.149482984A>G | CA414518146 | IDS | c.1415T>C (p.Ile472Thr) c.782T>C (p.Ile261Thr) c.1145T>C (p.Ile382Thr) | |
| X | g.149482984A>T | CA414518147 | IDS | c.1415T>A (p.Ile472Asn) c.782T>A (p.Ile261Asn) c.1145T>A (p.Ile382Asn) | |
| X | g.149482985T>A | CA414518148 | IDS | c.1414A>T (p.Ile472Phe) c.781A>T (p.Ile261Phe) c.1144A>T (p.Ile382Phe) | dbSNP |
| X | g.149482985T>C | CA414518149 | IDS | c.1414A>G (p.Ile472Val) c.781A>G (p.Ile261Val) c.1144A>G (p.Ile382Val) | |
| X | g.149482985T>G | CA414518150 | IDS | c.1414A>C (p.Ile472Leu) c.781A>C (p.Ile261Leu) c.1144A>C (p.Ile382Leu) | |
| X | g.149482985T= | CA2465004001 | IDS | c.1414A= (p.Ile472=) c.781A= (p.Ile261=) c.1144A= (p.Ile382=) | |
| X | g.149482986G>A | CA519173843 | IDS | c.1413C>T (p.Asp471=) c.780C>T (p.Asp260=) c.1143C>T (p.Asp381=) | |
| X | g.149482986G>C | CA414518151 | IDS | c.1413C>G (p.Asp471Glu) c.780C>G (p.Asp260Glu) c.1143C>G (p.Asp381Glu) | |
| X | g.149482986G>T | CA414518152 | IDS | c.1413C>A (p.Asp471Glu) c.780C>A (p.Asp260Glu) c.1143C>A (p.Asp381Glu) | |
| X | g.149482987T>A | CA414518155 | IDS | c.1412A>T (p.Asp471Val) c.779A>T (p.Asp260Val) c.1142A>T (p.Asp381Val) | |
| X | g.149482987T>C | CA414518154 | IDS | c.1412A>G (p.Asp471Gly) c.779A>G (p.Asp260Gly) c.1142A>G (p.Asp381Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149482987T>G | CA414518153 | IDS | c.1412A>C (p.Asp471Ala) c.779A>C (p.Asp260Ala) c.1142A>C (p.Asp381Ala) | |
| X | g.149482987T= | CA2465004002 | IDS | c.1412A= (p.Asp471=) c.779A= (p.Asp260=) c.1142A= (p.Asp381=) | |
| X | g.149482988_149482989del | CA2695236493 | IDS | c.1411_1412del (p.Asp471HisfsTer7) c.778_779del (p.Asp260HisfsTer7) c.1141_1142del (p.Asp381HisfsTer7) | |
| X | g.149482988C>A | CA414518156 | IDS | c.1411G>T (p.Asp471Tyr) c.778G>T (p.Asp260Tyr) c.1141G>T (p.Asp381Tyr) | |
| X | g.149482988C= | CA2465004003 | IDS | c.1411G= (p.Asp471=) c.778G= (p.Asp260=) c.1141G= (p.Asp381=) | |
| X | g.149482988C>G | CA414518157 | IDS | c.1411G>C (p.Asp471His) c.778G>C (p.Asp260His) c.1141G>C (p.Asp381His) | dbSNP |
| X | g.149482988C>T | CA414518158 | IDS | c.1411G>A (p.Asp471Asn) c.778G>A (p.Asp260Asn) c.1141G>A (p.Asp381Asn) | ClinVar |
| X | g.149482989T>A | CA519173849 | IDS | c.1410A>T (p.Ser470=) c.777A>T (p.Ser259=) c.1140A>T (p.Ser380=) | |
| X | g.149482989T>C | CA519173850 | IDS | c.1410A>G (p.Ser470=) c.777A>G (p.Ser259=) c.1140A>G (p.Ser380=) | |
| X | g.149482989T>G | CA519173851 | IDS | c.1410A>C (p.Ser470=) c.777A>C (p.Ser259=) c.1140A>C (p.Ser380=) | |
| X | g.149482989_149482990del | CA2695236494 | IDS | c.1409_1410del (p.Ser470Ter) c.776_777del (p.Ser259Ter) c.1139_1140del (p.Ser380Ter) | |
| X | g.149482990G>A | CA337035526 | IDS | c.1409C>T (p.Ser470Leu) c.776C>T (p.Ser259Leu) c.1139C>T (p.Ser380Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.149482990G>C | CA414518159 | IDS | c.1409C>G (p.Ser470Ter) c.776C>G (p.Ser259Ter) c.1139C>G (p.Ser380Ter) | |
| X | g.149482990G= | CA2465004004 | IDS | c.1409C= (p.Ser470=) c.776C= (p.Ser259=) c.1139C= (p.Ser380=) | |
| X | g.149482990G>T | CA414518160 | IDS | c.1409C>A (p.Ser470Ter) c.776C>A (p.Ser259Ter) c.1139C>A (p.Ser380Ter) | |
| X | g.149482991A>C | CA414518161 | IDS | c.1408T>G (p.Ser470Ala) c.775T>G (p.Ser259Ala) c.1138T>G (p.Ser380Ala) | |
| X | g.149482991A>G | CA414518162 | IDS | c.1408T>C (p.Ser470Pro) c.775T>C (p.Ser259Pro) c.1138T>C (p.Ser380Pro) | |
| X | g.149482991A>T | CA414518163 | IDS | c.1408T>A (p.Ser470Thr) c.775T>A (p.Ser259Thr) c.1138T>A (p.Ser380Thr) | |
| X | g.149482992A>C | CA519173856 | IDS | c.1407T>G (p.Pro469=) c.774T>G (p.Pro258=) c.1137T>G (p.Pro379=) | |
| X | g.149482992A>G | CA519173860 | IDS | c.1407T>C (p.Pro469=) c.774T>C (p.Pro258=) c.1137T>C (p.Pro379=) | |
| X | g.149482992A>T | CA519173861 | IDS | c.1407T>A (p.Pro469=) c.774T>A (p.Pro258=) c.1137T>A (p.Pro379=) | |
| X | g.149482993G>A | CA414518164 | IDS | c.1406C>T (p.Pro469Leu) c.773C>T (p.Pro258Leu) c.1136C>T (p.Pro379Leu) | ClinVar dbSNP |
| X | g.149482993G>C | CA414518165 | IDS | c.1406C>G (p.Pro469Arg) c.773C>G (p.Pro258Arg) c.1136C>G (p.Pro379Arg) | ClinVar |
| X | g.149482993G>T | CA414518166 | IDS | c.1406C>A (p.Pro469His) c.773C>A (p.Pro258His) c.1136C>A (p.Pro379His) | |
| X | g.149482994G>A | CA414518168 | IDS | c.1405C>T (p.Pro469Ser) c.772C>T (p.Pro258Ser) c.1135C>T (p.Pro379Ser) | |
| X | g.149482994G>C | CA414518169 | IDS | c.1405C>G (p.Pro469Ala) c.772C>G (p.Pro258Ala) c.1135C>G (p.Pro379Ala) | dbSNP |
| X | g.149482994G= | CA2465004005 | IDS | c.1405C= (p.Pro469=) c.772C= (p.Pro258=) c.1135C= (p.Pro379=) | |
| X | g.149482994G>T | CA414518167 | IDS | c.1405C>A (p.Pro469Thr) c.772C>A (p.Pro258Thr) c.1135C>A (p.Pro379Thr) | |
| X | g.149482995C>A | CA519173870 | IDS | c.1404G>T (p.Arg468=) c.771G>T (p.Arg257=) c.1134G>T (p.Arg378=) | |
| X | g.149482995C= | CA2465004006 | IDS | c.1404G= (p.Arg468=) c.771G= (p.Arg257=) c.1134G= (p.Arg378=) | |
| X | g.149482995C>G | CA519173869 | IDS | c.1404G>C (p.Arg468=) c.771G>C (p.Arg257=) c.1134G>C (p.Arg378=) | |
| X | g.149482995C>T | CA519173867 | IDS | c.1404G>A (p.Arg468=) c.771G>A (p.Arg257=) c.1134G>A (p.Arg378=) | dbSNP gnomAD v4 |
| X | g.149482996_149483004dup | CA2695236495 | IDS | c.1396_1404dup (p.Arg468_Pro469insTyrProArg) c.763_771dup (p.Arg257_Pro258insTyrProArg) c.1126_1134dup (p.Arg378_Pro379insTyrProArg) | |
| X | g.149482996C>A | CA121099 | IDS | c.1403G>T (p.Arg468Leu) c.770G>T (p.Arg257Leu) c.1133G>T (p.Arg378Leu) | ClinVar dbSNP |
| X | g.149482996C= | CA2465004007 | IDS | c.1403G= (p.Arg468=) c.770G= (p.Arg257=) c.1133G= (p.Arg378=) | |
| X | g.149482996C>G | CA220490 | IDS | c.1403G>C (p.Arg468Pro) c.770G>C (p.Arg257Pro) c.1133G>C (p.Arg378Pro) | ClinVar dbSNP |
| X | g.149482996C>T | CA340992 | IDS | c.1403G>A (p.Arg468Gln) c.770G>A (p.Arg257Gln) c.1133G>A (p.Arg378Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.[149482996C>T;149483005T>A] | CA356679 | IDS | c.[1394A>T;1403G>A] (p.[Gln465Leu;Arg468Gln]) c.[761A>T;770G>A] (p.[Gln254Leu;Arg257Gln]) c.[1124A>T;1133G>A] (p.[Gln375Leu;Arg378Gln]) | ClinVar |
| X | g.149482996_149483005delinsTGGGGATACA | CA2695236496 | IDS | c.1394_1403delinsTGTATCCCCA (p.Gln465_Arg468delinsLeuTyrProGln) c.761_770delinsTGTATCCCCA (p.Gln254_Arg257delinsLeuTyrProGln) c.1124_1133delinsTGTATCCCCA (p.Gln375_Arg378delinsLeuTyrProGln) | |
| X | g.149482997G>A | CA340991 | IDS | c.1402C>T (p.Arg468Trp) c.769C>T (p.Arg257Trp) c.1132C>T (p.Arg378Trp) | ClinVar dbSNP |
| X | g.149482997G>C | CA414518170 | IDS | c.1402C>G (p.Arg468Gly) c.769C>G (p.Arg257Gly) c.1132C>G (p.Arg378Gly) | |
| X | g.149482997G= | CA2465004008 | IDS | c.1402C= (p.Arg468=) c.769C= (p.Arg257=) c.1132C= (p.Arg378=) | |
| X | g.149482997G>T | CA519173873 | IDS | c.1402C>A (p.Arg468=) c.769C>A (p.Arg257=) c.1132C>A (p.Arg378=) | |
| X | g.149483000del | CA2499226410 | IDS | c.1402del (p.Arg468GlyfsTer15) c.769del (p.Arg257GlyfsTer15) c.1132del (p.Arg378GlyfsTer15) | ClinVar dbSNP |
| X | g.149482998G>A | CA519173878 | IDS | c.1401C>T (p.Pro467=) c.768C>T (p.Pro256=) c.1131C>T (p.Pro377=) | |
| X | g.149482998G>C | CA519173879 | IDS | c.1401C>G (p.Pro467=) c.768C>G (p.Pro256=) c.1131C>G (p.Pro377=) | |
| X | g.149482998G>T | CA519173880 | IDS | c.1401C>A (p.Pro467=) c.768C>A (p.Pro256=) c.1131C>A (p.Pro377=) | |
| X | g.149482999G>A | CA414518171 | IDS | c.1400C>T (p.Pro467Leu) c.767C>T (p.Pro256Leu) c.1130C>T (p.Pro377Leu) | ClinVar dbSNP |
| X | g.149482999G>C | CA414518172 | IDS | c.1400C>G (p.Pro467Arg) c.767C>G (p.Pro256Arg) c.1130C>G (p.Pro377Arg) | ClinVar dbSNP |
| X | g.149482999G= | CA2465004009 | IDS | c.1400C= (p.Pro467=) c.767C= (p.Pro256=) c.1130C= (p.Pro377=) | |
| X | g.149482999G>T | CA414518173 | IDS | c.1400C>A (p.Pro467His) c.767C>A (p.Pro256His) c.1130C>A (p.Pro377His) | |
| X | g.149483000G>A | CA414518174 | IDS | c.1399C>T (p.Pro467Ser) c.766C>T (p.Pro256Ser) c.1129C>T (p.Pro377Ser) | |
| X | g.149483000G>C | CA414518175 | IDS | c.1399C>G (p.Pro467Ala) c.766C>G (p.Pro256Ala) c.1129C>G (p.Pro377Ala) | |
| X | g.149483000G>T | CA414518176 | IDS | c.1399C>A (p.Pro467Thr) c.766C>A (p.Pro256Thr) c.1129C>A (p.Pro377Thr) | |
| X | g.149483001A>C | CA414518177 | IDS | c.1398T>G (p.Tyr466Ter) c.765T>G (p.Tyr255Ter) c.1128T>G (p.Tyr376Ter) | |
| X | g.149483001A>G | CA519173886 | IDS | c.1398T>C (p.Tyr466=) c.765T>C (p.Tyr255=) c.1128T>C (p.Tyr376=) | |
| X | g.149483001A>T | CA414518178 | IDS | c.1398T>A (p.Tyr466Ter) c.765T>A (p.Tyr255Ter) c.1128T>A (p.Tyr376Ter) | |
| X | g.149483004_149483012del | CA2695236499 | IDS | c.1390_1398del (p.Ser464_Tyr466del) c.757_765del (p.Ser253_Tyr255del) c.1120_1128del (p.Ser374_Tyr376del) | |
| X | g.149483002T>A | CA414518180 | IDS | c.1397A>T (p.Tyr466Phe) c.764A>T (p.Tyr255Phe) c.1127A>T (p.Tyr376Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149483002T>C | CA337035527 | IDS | c.1397A>G (p.Tyr466Cys) c.764A>G (p.Tyr255Cys) c.1127A>G (p.Tyr376Cys) | dbSNP |
| X | g.149483002T>G | CA414518179 | IDS | c.1397A>C (p.Tyr466Ser) c.764A>C (p.Tyr255Ser) c.1127A>C (p.Tyr376Ser) | |
| X | g.149483002T= | CA2465004010 | IDS | c.1397A= (p.Tyr466=) c.764A= (p.Tyr255=) c.1127A= (p.Tyr376=) | |
| X | g.149483003A>C | CA414518181 | IDS | c.1396T>G (p.Tyr466Asp) c.763T>G (p.Tyr255Asp) c.1126T>G (p.Tyr376Asp) | |
| X | g.149483003A>G | CA414518182 | IDS | c.1396T>C (p.Tyr466His) c.763T>C (p.Tyr255His) c.1126T>C (p.Tyr376His) | |
| X | g.149483003A>T | CA414518183 | IDS | c.1396T>A (p.Tyr466Asn) c.763T>A (p.Tyr255Asn) c.1126T>A (p.Tyr376Asn) | |
| X | g.149483004C>A | CA414518184 | IDS | c.1395G>T (p.Gln465His) c.762G>T (p.Gln254His) c.1125G>T (p.Gln375His) | |
| X | g.149483004C>G | CA414518185 | IDS | c.1395G>C (p.Gln465His) c.762G>C (p.Gln254His) c.1125G>C (p.Gln375His) | gnomAD v4 |
| X | g.149483004C>T | CA519173893 | IDS | c.1395G>A (p.Gln465=) c.762G>A (p.Gln254=) c.1125G>A (p.Gln375=) | ClinVar dbSNP |
| X | g.149483005T>A | CA356677 | IDS | c.1394A>T (p.Gln465Leu) c.761A>T (p.Gln254Leu) c.1124A>T (p.Gln375Leu) | dbSNP |
| X | g.149483005T>C | CA414518186 | IDS | c.1394A>G (p.Gln465Arg) c.761A>G (p.Gln254Arg) c.1124A>G (p.Gln375Arg) | |
| X | g.149483005T>G | CA414518187 | IDS | c.1394A>C (p.Gln465Pro) c.761A>C (p.Gln254Pro) c.1124A>C (p.Gln375Pro) | |
| X | g.149483005T= | CA2465004011 | IDS | c.1394A= (p.Gln465=) c.761A= (p.Gln254=) c.1124A= (p.Gln375=) | |
| X | g.149483006G>A | CA349672 | IDS | c.1393C>T (p.Gln465Ter) c.760C>T (p.Gln254Ter) c.1123C>T (p.Gln375Ter) | ClinVar dbSNP |
| X | g.149483006G>C | CA414518188 | IDS | c.1393C>G (p.Gln465Glu) c.760C>G (p.Gln254Glu) c.1123C>G (p.Gln375Glu) | |
| X | g.149483006G= | CA2465004012 | IDS | c.1393C= (p.Gln465=) c.760C= (p.Gln254=) c.1123C= (p.Gln375=) | |
| X | g.149483006G>T | CA16608716 | IDS | c.1393C>A (p.Gln465Lys) c.760C>A (p.Gln254Lys) c.1123C>A (p.Gln375Lys) | ClinVar dbSNP |
| X | g.149483007G>A | CA10537448 | IDS | c.1392C>T (p.Ser464=) c.759C>T (p.Ser253=) c.1122C>T (p.Ser374=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483007G>C | CA414518189 | IDS | c.1392C>G (p.Ser464Arg) c.759C>G (p.Ser253Arg) c.1122C>G (p.Ser374Arg) | |
| X | g.149483007G= | CA2465004013 | IDS | c.1392C= (p.Ser464=) c.759C= (p.Ser253=) c.1122C= (p.Ser374=) | |
| X | g.149483007G>T | CA414518190 | IDS | c.1392C>A (p.Ser464Arg) c.759C>A (p.Ser253Arg) c.1122C>A (p.Ser374Arg) | |
| X | g.149483008C>A | CA414518192 | IDS | c.1391G>T (p.Ser464Ile) c.758G>T (p.Ser253Ile) c.1121G>T (p.Ser374Ile) | |
| X | g.149483008C>G | CA414518193 | IDS | c.1391G>C (p.Ser464Thr) c.758G>C (p.Ser253Thr) c.1121G>C (p.Ser374Thr) | |
| X | g.149483008C>T | CA414518191 | IDS | c.1391G>A (p.Ser464Asn) c.758G>A (p.Ser253Asn) c.1121G>A (p.Ser374Asn) | |
| X | g.149483009T>A | CA414518195 | IDS | c.1390A>T (p.Ser464Cys) c.757A>T (p.Ser253Cys) c.1120A>T (p.Ser374Cys) | |
| X | g.149483009T>C | CA414518194 | IDS | c.1390A>G (p.Ser464Gly) c.757A>G (p.Ser253Gly) c.1120A>G (p.Ser374Gly) | |
| X | g.149483009T>G | CA414518196 | IDS | c.1390A>C (p.Ser464Arg) c.757A>C (p.Ser253Arg) c.1120A>C (p.Ser374Arg) | |
| X | g.149483009dup | CA2695236500 | IDS | c.1390dup (p.Ser464LysfsTer15) c.757dup (p.Ser253LysfsTer15) c.1120dup (p.Ser374LysfsTer15) | |
| X | g.149483011_149483012del | CA2579719104 | IDS | c.1389_1390del (p.Tyr463Ter) c.756_757del (p.Tyr252Ter) c.1119_1120del (p.Tyr373Ter) | |
| X | g.149483010A>C | CA414518197 | IDS | c.1389T>G (p.Tyr463Ter) c.756T>G (p.Tyr252Ter) c.1119T>G (p.Tyr373Ter) | |
| X | g.149483010A>G | CA519173897 | IDS | c.1389T>C (p.Tyr463=) c.756T>C (p.Tyr252=) c.1119T>C (p.Tyr373=) | ClinVar |
| X | g.149483010A>T | CA414518198 | IDS | c.1389T>A (p.Tyr463Ter) c.756T>A (p.Tyr252Ter) c.1119T>A (p.Tyr373Ter) | |
| X | g.149483011T>A | CA414518199 | IDS | c.1388A>T (p.Tyr463Phe) c.755A>T (p.Tyr252Phe) c.1118A>T (p.Tyr373Phe) | |
| X | g.149483011T>C | CA414518200 | IDS | c.1388A>G (p.Tyr463Cys) c.755A>G (p.Tyr252Cys) c.1118A>G (p.Tyr373Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483011T>G | CA414518201 | IDS | c.1388A>C (p.Tyr463Ser) c.755A>C (p.Tyr252Ser) c.1118A>C (p.Tyr373Ser) | |
| X | g.149483011T= | CA2465004014 | IDS | c.1388A= (p.Tyr463=) c.755A= (p.Tyr252=) c.1118A= (p.Tyr373=) | |
| X | g.149483012A= | CA2465004015 | IDS | c.1387T= (p.Tyr463=) c.754T= (p.Tyr252=) c.1117T= (p.Tyr373=) | |
| X | g.149483012A>C | CA414518202 | IDS | c.1387T>G (p.Tyr463Asp) c.754T>G (p.Tyr252Asp) c.1117T>G (p.Tyr373Asp) | |
| X | g.149483012A>G | CA414518203 | IDS | c.1387T>C (p.Tyr463His) c.754T>C (p.Tyr252His) c.1117T>C (p.Tyr373His) | ClinVar dbSNP gnomAD v4 |
| X | g.149483012A>T | CA414518204 | IDS | c.1387T>A (p.Tyr463Asn) c.754T>A (p.Tyr252Asn) c.1117T>A (p.Tyr373Asn) | |
| X | g.149483013G>A | CA519173899 | IDS | c.1386C>T (p.Ala462=) c.753C>T (p.Ala251=) c.1116C>T (p.Ala372=) | |
| X | g.149483013G>C | CA519173901 | IDS | c.1386C>G (p.Ala462=) c.753C>G (p.Ala251=) c.1116C>G (p.Ala372=) | |
| X | g.149483013G>T | CA519173902 | IDS | c.1386C>A (p.Ala462=) c.753C>A (p.Ala251=) c.1116C>A (p.Ala372=) | |
| X | g.149483014G>A | CA414518205 | IDS | c.1385C>T (p.Ala462Val) c.752C>T (p.Ala251Val) c.1115C>T (p.Ala372Val) | |
| X | g.149483014G>C | CA414518206 | IDS | c.1385C>G (p.Ala462Gly) c.752C>G (p.Ala251Gly) c.1115C>G (p.Ala372Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483014G= | CA2465004016 | IDS | c.1385C= (p.Ala462=) c.752C= (p.Ala251=) c.1115C= (p.Ala372=) | |
| X | g.149483014G>T | CA414518207 | IDS | c.1385C>A (p.Ala462Asp) c.752C>A (p.Ala251Asp) c.1115C>A (p.Ala372Asp) | |
| X | g.149483015C>A | CA414518210 | IDS | c.1384G>T (p.Ala462Ser) c.751G>T (p.Ala251Ser) c.1114G>T (p.Ala372Ser) | |
| X | g.149483015C>G | CA414518209 | IDS | c.1384G>C (p.Ala462Pro) c.751G>C (p.Ala251Pro) c.1114G>C (p.Ala372Pro) | |
| X | g.149483015C>T | CA414518208 | IDS | c.1384G>A (p.Ala462Thr) c.751G>A (p.Ala251Thr) c.1114G>A (p.Ala372Thr) | |
| X | g.149483016A>C | CA414518211 | IDS | c.1383T>G (p.Ile461Met) c.750T>G (p.Ile250Met) c.1113T>G (p.Ile371Met) | |
| X | g.149483016A>G | CA519173907 | IDS | c.1383T>C (p.Ile461=) c.750T>C (p.Ile250=) c.1113T>C (p.Ile371=) | |
| X | g.149483016A>T | CA519173906 | IDS | c.1383T>A (p.Ile461=) c.750T>A (p.Ile250=) c.1113T>A (p.Ile371=) | |
| X | g.149483017A>C | CA414518212 | IDS | c.1382T>G (p.Ile461Ser) c.749T>G (p.Ile250Ser) c.1112T>G (p.Ile371Ser) | |
| X | g.149483017A>G | CA414518213 | IDS | c.1382T>C (p.Ile461Thr) c.749T>C (p.Ile250Thr) c.1112T>C (p.Ile371Thr) | gnomAD v4 |
| X | g.149483017A>T | CA414518214 | IDS | c.1382T>A (p.Ile461Asn) c.749T>A (p.Ile250Asn) c.1112T>A (p.Ile371Asn) | |
| X | g.149483018T>A | CA414518215 | IDS | c.1381A>T (p.Ile461Phe) c.748A>T (p.Ile250Phe) c.1111A>T (p.Ile371Phe) | gnomAD v4 |
| X | g.149483018T>C | CA414518216 | IDS | c.1381A>G (p.Ile461Val) c.748A>G (p.Ile250Val) c.1111A>G (p.Ile371Val) | |
| X | g.149483018T>G | CA414518217 | IDS | c.1381A>C (p.Ile461Leu) c.748A>C (p.Ile250Leu) c.1111A>C (p.Ile371Leu) | |
| X | g.149483019C>A | CA519173909 | IDS | c.1380G>T (p.Leu460=) c.747G>T (p.Leu249=) c.1110G>T (p.Leu370=) | |
| X | g.149483019C= | CA2465004017 | IDS | c.1380G= (p.Leu460=) c.747G= (p.Leu249=) c.1110G= (p.Leu370=) | |
| X | g.149483019C>G | CA519173910 | IDS | c.1380G>C (p.Leu460=) c.747G>C (p.Leu249=) c.1110G>C (p.Leu370=) | gnomAD v4 |
| X | g.149483019C>T | CA10537449 | IDS | c.1380G>A (p.Leu460=) c.747G>A (p.Leu249=) c.1110G>A (p.Leu370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483020A>C | CA414518218 | IDS | c.1379T>G (p.Leu460Arg) c.746T>G (p.Leu249Arg) c.1109T>G (p.Leu370Arg) | |
| X | g.149483020A>G | CA414518219 | IDS | c.1379T>C (p.Leu460Pro) c.746T>C (p.Leu249Pro) c.1109T>C (p.Leu370Pro) | |
| X | g.149483020A>T | CA414518220 | IDS | c.1379T>A (p.Leu460Gln) c.746T>A (p.Leu249Gln) c.1109T>A (p.Leu370Gln) | |
| X | g.149483021G>A | CA519173911 | IDS | c.1378C>T (p.Leu460=) c.745C>T (p.Leu249=) c.1108C>T (p.Leu370=) | ClinVar |
| X | g.149483021G>C | CA414518221 | IDS | c.1378C>G (p.Leu460Val) c.745C>G (p.Leu249Val) c.1108C>G (p.Leu370Val) | |
| X | g.149483021G>T | CA414518222 | IDS | c.1378C>A (p.Leu460Met) c.745C>A (p.Leu249Met) c.1108C>A (p.Leu370Met) | |
| X | g.149483022T>A | CA414518224 | IDS | c.1377A>T (p.Glu459Asp) c.744A>T (p.Glu248Asp) c.1107A>T (p.Glu369Asp) | |
| X | g.149483022T>C | CA519173915 | IDS | c.1377A>G (p.Glu459=) c.744A>G (p.Glu248=) c.1107A>G (p.Glu369=) | gnomAD v4 |
| X | g.149483022T>G | CA414518223 | IDS | c.1377A>C (p.Glu459Asp) c.744A>C (p.Glu248Asp) c.1107A>C (p.Glu369Asp) | |
| X | g.149483023del | CA2695236502 | IDS | c.1377del (p.Glu459AspfsTer2) c.744del (p.Glu248AspfsTer2) c.1107del (p.Glu369AspfsTer2) | |
| X | g.149483023T>A | CA414518225 | IDS | c.1376A>T (p.Glu459Val) c.743A>T (p.Glu248Val) c.1106A>T (p.Glu369Val) | |
| X | g.149483023T>C | CA414518226 | IDS | c.1376A>G (p.Glu459Gly) c.743A>G (p.Glu248Gly) c.1106A>G (p.Glu369Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483023T>G | CA414518227 | IDS | c.1376A>C (p.Glu459Ala) c.743A>C (p.Glu248Ala) c.1106A>C (p.Glu369Ala) | |
| X | g.149483023T= | CA2465004018 | IDS | c.1376A= (p.Glu459=) c.743A= (p.Glu248=) c.1106A= (p.Glu369=) | |
| X | g.149483024C>A | CA414518228 | IDS | c.1375G>T (p.Glu459Ter) c.742G>T (p.Glu248Ter) c.1105G>T (p.Glu369Ter) | ClinVar dbSNP |
| X | g.149483024C>G | CA414518229 | IDS | c.1375G>C (p.Glu459Gln) c.742G>C (p.Glu248Gln) c.1105G>C (p.Glu369Gln) | |
| X | g.149483024C>T | CA414518230 | IDS | c.1375G>A (p.Glu459Lys) c.742G>A (p.Glu248Lys) c.1105G>A (p.Glu369Lys) | |
| X | g.149483025A>C | CA519173919 | IDS | c.1374T>G (p.Arg458=) c.741T>G (p.Arg247=) c.1104T>G (p.Arg368=) | |
| X | g.149483025A>G | CA519173920 | IDS | c.1374T>C (p.Arg458=) c.741T>C (p.Arg247=) c.1104T>C (p.Arg368=) | |
| X | g.149483025A>T | CA519173921 | IDS | c.1374T>A (p.Arg458=) c.741T>A (p.Arg247=) c.1104T>A (p.Arg368=) | |
| X | g.149483026C>A | CA10537451 | IDS | c.1373G>T (p.Arg458Leu) c.740G>T (p.Arg247Leu) c.1103G>T (p.Arg368Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483026C= | CA2465004019 | IDS | c.1373G= (p.Arg458=) c.740G= (p.Arg247=) c.1103G= (p.Arg368=) | |
| X | g.149483026C>G | CA414518231 | IDS | c.1373G>C (p.Arg458Pro) c.740G>C (p.Arg247Pro) c.1103G>C (p.Arg368Pro) | |
| X | g.149483026C>T | CA10537450 | IDS | c.1373G>A (p.Arg458His) c.740G>A (p.Arg247His) c.1103G>A (p.Arg368His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.149483027G>A | CA10537452 | IDS | c.1372C>T (p.Arg458Cys) c.739C>T (p.Arg247Cys) c.1102C>T (p.Arg368Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.149483027G>C | CA414518232 | IDS | c.1372C>G (p.Arg458Gly) c.739C>G (p.Arg247Gly) c.1102C>G (p.Arg368Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483027G= | CA2465004020 | IDS | c.1372C= (p.Arg458=) c.739C= (p.Arg247=) c.1102C= (p.Arg368=) | |
| X | g.149483027G>T | CA414518233 | IDS | c.1372C>A (p.Arg458Ser) c.739C>A (p.Arg247Ser) c.1102C>A (p.Arg368Ser) | |
| X | g.149483028G>A | CA519173925 | IDS | c.1371C>T (p.Pro457=) c.738C>T (p.Pro246=) c.1101C>T (p.Pro367=) | |
| X | g.149483028G>C | CA519173926 | IDS | c.1371C>G (p.Pro457=) c.738C>G (p.Pro246=) c.1101C>G (p.Pro367=) | ClinVar |
| X | g.149483028G>T | CA519173927 | IDS | c.1371C>A (p.Pro457=) c.738C>A (p.Pro246=) c.1101C>A (p.Pro367=) | |
| X | g.149483029G>A | CA414518234 | IDS | c.1370C>T (p.Pro457Leu) c.737C>T (p.Pro246Leu) c.1100C>T (p.Pro367Leu) | |
| X | g.149483029G>C | CA337035528 | IDS | c.1370C>G (p.Pro457Arg) c.737C>G (p.Pro246Arg) c.1100C>G (p.Pro367Arg) | dbSNP gnomAD v4 |
| X | g.149483029G= | CA2465004021 | IDS | c.1370C= (p.Pro457=) c.737C= (p.Pro246=) c.1100C= (p.Pro367=) | |
| X | g.149483029G>T | CA414518235 | IDS | c.1370C>A (p.Pro457His) c.737C>A (p.Pro246His) c.1100C>A (p.Pro367His) | |
| X | g.149483030G>A | CA10537453 | IDS | c.1369C>T (p.Pro457Ser) c.736C>T (p.Pro246Ser) c.1099C>T (p.Pro367Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483030G>C | CA414518237 | IDS | c.1369C>G (p.Pro457Ala) c.736C>G (p.Pro246Ala) c.1099C>G (p.Pro367Ala) | |
| X | g.149483030G= | CA2465004022 | IDS | c.1369C= (p.Pro457=) c.736C= (p.Pro246=) c.1099C= (p.Pro367=) | |
| X | g.149483030G>T | CA414518236 | IDS | c.1369C>A (p.Pro457Thr) c.736C>A (p.Pro246Thr) c.1099C>A (p.Pro367Thr) | |
| X | g.149483031A>C | CA414518238 | IDS | c.1368T>G (p.Asn456Lys) c.735T>G (p.Asn245Lys) c.1098T>G (p.Asn366Lys) | |
| X | g.149483031A>G | CA519173931 | IDS | c.1368T>C (p.Asn456=) c.735T>C (p.Asn245=) c.1098T>C (p.Asn366=) | |
| X | g.149483031A>T | CA414518239 | IDS | c.1368T>A (p.Asn456Lys) c.735T>A (p.Asn245Lys) c.1098T>A (p.Asn366Lys) | |
| X | g.149483032T>A | CA414518240 | IDS | c.1367A>T (p.Asn456Ile) c.734A>T (p.Asn245Ile) c.1097A>T (p.Asn366Ile) | |
| X | g.149483032T>C | CA414518241 | IDS | c.1367A>G (p.Asn456Ser) c.734A>G (p.Asn245Ser) c.1097A>G (p.Asn366Ser) | |
| X | g.149483032T>G | CA414518242 | IDS | c.1367A>C (p.Asn456Thr) c.734A>C (p.Asn245Thr) c.1097A>C (p.Asn366Thr) | |
| X | g.149483033T>A | CA414518243 | IDS | c.1366A>T (p.Asn456Tyr) c.733A>T (p.Asn245Tyr) c.1096A>T (p.Asn366Tyr) | |
| X | g.149483033T>C | CA414518244 | IDS | c.1366A>G (p.Asn456Asp) c.733A>G (p.Asn245Asp) c.1096A>G (p.Asn366Asp) | |
| X | g.149483033T>G | CA414518245 | IDS | c.1366A>C (p.Asn456His) c.733A>C (p.Asn245His) c.1096A>C (p.Asn366His) | |
| X | g.149483036_149483046del | CA2695236503 | IDS | c.1356_1366del (p.Tyr452Ter) c.723_733del (p.Tyr241Ter) c.1086_1096del (p.Tyr362Ter) | |
| X | g.149483034A>C | CA519173935 | IDS | c.1365T>G (p.Gly455=) c.732T>G (p.Gly244=) c.1095T>G (p.Gly365=) | |
| X | g.149483034A>G | CA519173936 | IDS | c.1365T>C (p.Gly455=) c.732T>C (p.Gly244=) c.1095T>C (p.Gly365=) | COSMIC |
| X | g.149483034A>T | CA519173937 | IDS | c.1365T>A (p.Gly455=) c.732T>A (p.Gly244=) c.1095T>A (p.Gly365=) | |
| X | g.149483034_149483037dup | CA2695236504 | IDS | c.1362_1365dup (p.Asn456TrpfsTer2) c.729_732dup (p.Asn245TrpfsTer2) c.1092_1095dup (p.Asn366TrpfsTer2) | |
| X | g.149483035C>A | CA414518246 | IDS | c.1364G>T (p.Gly455Val) c.731G>T (p.Gly244Val) c.1094G>T (p.Gly365Val) | ClinVar |
| X | g.149483035C>G | CA414518247 | IDS | c.1364G>C (p.Gly455Ala) c.731G>C (p.Gly244Ala) c.1094G>C (p.Gly365Ala) | |
| X | g.149483035C>T | CA414518248 | IDS | c.1364G>A (p.Gly455Asp) c.731G>A (p.Gly244Asp) c.1094G>A (p.Gly365Asp) | |
| X | g.149483037_149483052del | CA2695236505 | IDS | c.1349_1364del (p.Asp450ValfsTer6) c.716_731del (p.Asp239ValfsTer6) c.1079_1094del (p.Asp360ValfsTer6) | |
| X | g.149483036C>A | CA414518250 | IDS | c.1363G>T (p.Gly455Cys) c.730G>T (p.Gly244Cys) c.1093G>T (p.Gly365Cys) | |
| X | g.149483036C= | CA2465004023 | IDS | c.1363G= (p.Gly455=) c.730G= (p.Gly244=) c.1093G= (p.Gly365=) | |
| X | g.149483036C>G | CA10537454 | IDS | c.1363G>C (p.Gly455Arg) c.730G>C (p.Gly244Arg) c.1093G>C (p.Gly365Arg) | dbSNP ExAC gnomAD v2 |
| X | g.149483036C>T | CA414518249 | IDS | c.1363G>A (p.Gly455Ser) c.730G>A (p.Gly244Ser) c.1093G>A (p.Gly365Ser) | |
| X | g.149483037A= | CA2465004024 | IDS | c.1362T= (p.Pro454=) c.729T= (p.Pro243=) c.1092T= (p.Pro364=) | |
| X | g.149483037A>C | CA519173941 | IDS | c.1362T>G (p.Pro454=) c.729T>G (p.Pro243=) c.1092T>G (p.Pro364=) | |
| X | g.149483037A>G | CA519173942 | IDS | c.1362T>C (p.Pro454=) c.729T>C (p.Pro243=) c.1092T>C (p.Pro364=) | |
| X | g.149483037A>T | CA519173943 | IDS | c.1362T>A (p.Pro454=) c.729T>A (p.Pro243=) c.1092T>A (p.Pro364=) | |
| X | g.149483038G>A | CA414518251 | IDS | c.1361C>T (p.Pro454Leu) c.728C>T (p.Pro243Leu) c.1091C>T (p.Pro364Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483038G>C | CA414518253 | IDS | c.1361C>G (p.Pro454Arg) c.728C>G (p.Pro243Arg) c.1091C>G (p.Pro364Arg) | |
| X | g.149483038G= | CA2465004025 | IDS | c.1361C= (p.Pro454=) c.728C= (p.Pro243=) c.1091C= (p.Pro364=) | |
| X | g.149483038G>T | CA414518252 | IDS | c.1361C>A (p.Pro454His) c.728C>A (p.Pro243His) c.1091C>A (p.Pro364His) | |
| X | g.149483040dup | CA337035529 | IDS | c.1361dup (p.Gly455TrpfsTer2) c.728dup (p.Gly244TrpfsTer2) c.1091dup (p.Gly365TrpfsTer2) | dbSNP |
| X | g.149483039G>A | CA10537455 | IDS | c.1360C>T (p.Pro454Ser) c.727C>T (p.Pro243Ser) c.1090C>T (p.Pro364Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483039G>C | CA414518254 | IDS | c.1360C>G (p.Pro454Ala) c.727C>G (p.Pro243Ala) c.1090C>G (p.Pro364Ala) | |
| X | g.149483039G= | CA2465004026 | IDS | c.1360C= (p.Pro454=) c.727C= (p.Pro243=) c.1090C= (p.Pro364=) | |
| X | g.149483039G>T | CA414518255 | IDS | c.1360C>A (p.Pro454Thr) c.727C>A (p.Pro243Thr) c.1090C>A (p.Pro364Thr) | |
| X | g.149483040G>A | CA519173944 | IDS | c.1359C>T (p.Leu453=) c.726C>T (p.Leu242=) c.1089C>T (p.Leu363=) | |
| X | g.149483040G>C | CA519173945 | IDS | c.1359C>G (p.Leu453=) c.726C>G (p.Leu242=) c.1089C>G (p.Leu363=) | |
| X | g.149483040G>T | CA519173946 | IDS | c.1359C>A (p.Leu453=) c.726C>A (p.Leu242=) c.1089C>A (p.Leu363=) | |
| X | g.149483041A>C | CA414518256 | IDS | c.1358T>G (p.Leu453Arg) c.725T>G (p.Leu242Arg) c.1088T>G (p.Leu363Arg) | |
| X | g.149483041A>G | CA414518257 | IDS | c.1358T>C (p.Leu453Pro) c.725T>C (p.Leu242Pro) c.1088T>C (p.Leu363Pro) | |
| X | g.149483041A>T | CA414518258 | IDS | c.1358T>A (p.Leu453His) c.725T>A (p.Leu242His) c.1088T>A (p.Leu363His) | |
| X | g.149483041_149483046delinsAGGTAC | CA2465004027 | IDS | c.1353_1358delinsGTACCT (p.Pro451=) c.720_725delinsGTACCT (p.Pro240=) c.1083_1088delinsGTACCT (p.Pro361=) | |
| X | g.149483042G>A | CA414518259 | IDS | c.1357C>T (p.Leu453Phe) c.724C>T (p.Leu242Phe) c.1087C>T (p.Leu363Phe) | |
| X | g.149483042G>C | CA414518260 | IDS | c.1357C>G (p.Leu453Val) c.724C>G (p.Leu242Val) c.1087C>G (p.Leu363Val) | |
| X | g.149483042G>T | CA414518261 | IDS | c.1357C>A (p.Leu453Ile) c.724C>A (p.Leu242Ile) c.1087C>A (p.Leu363Ile) | |
| X | g.149483044_149483048del | CA2465004028 | IDS | c.1353_1357del (p.Tyr452ProfsTer3) c.720_724del (p.Tyr241ProfsTer3) c.1083_1087del (p.Tyr362ProfsTer3) | ClinVar dbSNP |
| X | g.149483043G>A | CA519173947 | IDS | c.1356C>T (p.Tyr452=) c.723C>T (p.Tyr241=) c.1086C>T (p.Tyr362=) | |
| X | g.149483043G>C | CA414518262 | IDS | c.1356C>G (p.Tyr452Ter) c.723C>G (p.Tyr241Ter) c.1086C>G (p.Tyr362Ter) | |
| X | g.149483043G>T | CA414518263 | IDS | c.1356C>A (p.Tyr452Ter) c.723C>A (p.Tyr241Ter) c.1086C>A (p.Tyr362Ter) | ClinVar |
| X | g.149483044T>A | CA414518266 | IDS | c.1355A>T (p.Tyr452Phe) c.722A>T (p.Tyr241Phe) c.1085A>T (p.Tyr362Phe) | |
| X | g.149483044T>C | CA414518264 | IDS | c.1355A>G (p.Tyr452Cys) c.722A>G (p.Tyr241Cys) c.1085A>G (p.Tyr362Cys) | |
| X | g.149483044T>G | CA414518265 | IDS | c.1355A>C (p.Tyr452Ser) c.722A>C (p.Tyr241Ser) c.1085A>C (p.Tyr362Ser) | |
| X | g.149483045A>C | CA414518267 | IDS | c.1354T>G (p.Tyr452Asp) c.721T>G (p.Tyr241Asp) c.1084T>G (p.Tyr362Asp) | |
| X | g.149483045A>G | CA414518268 | IDS | c.1354T>C (p.Tyr452His) c.721T>C (p.Tyr241His) c.1084T>C (p.Tyr362His) | COSMIC |
| X | g.149483045A>T | CA414518269 | IDS | c.1354T>A (p.Tyr452Asn) c.721T>A (p.Tyr241Asn) c.1084T>A (p.Tyr362Asn) | |
| X | g.149483046C>A | CA519173949 | IDS | c.1353G>T (p.Pro451=) c.720G>T (p.Pro240=) c.1083G>T (p.Pro361=) | |
| X | g.149483046C= | CA2465004029 | IDS | c.1353G= (p.Pro451=) c.720G= (p.Pro240=) c.1083G= (p.Pro361=) | |
| X | g.149483046C>G | CA337035530 | IDS | c.1353G>C (p.Pro451=) c.720G>C (p.Pro240=) c.1083G>C (p.Pro361=) | ClinVar dbSNP |
| X | g.149483046C>T | CA519173952 | IDS | c.1353G>A (p.Pro451=) c.720G>A (p.Pro240=) c.1083G>A (p.Pro361=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483047_149483048insATCG | CA2695236507 | IDS | c.1353_1354insATCG (p.Tyr452IlefsTer6) c.720_721insATCG (p.Tyr241IlefsTer6) c.1083_1084insATCG (p.Tyr362IlefsTer6) | |
| X | g.149483047G>A | CA10537456 | IDS | c.1352C>T (p.Pro451Leu) c.719C>T (p.Pro240Leu) c.1082C>T (p.Pro361Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.149483047G>C | CA10537457 | IDS | c.1352C>G (p.Pro451Arg) c.719C>G (p.Pro240Arg) c.1082C>G (p.Pro361Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483047G= | CA2465004030 | IDS | c.1352C= (p.Pro451=) c.719C= (p.Pro240=) c.1082C= (p.Pro361=) | |
| X | g.149483047G>T | CA414518270 | IDS | c.1352C>A (p.Pro451Gln) c.719C>A (p.Pro240Gln) c.1082C>A (p.Pro361Gln) | |
| X | g.149483048G>A | CA414518271 | IDS | c.1351C>T (p.Pro451Ser) c.718C>T (p.Pro240Ser) c.1081C>T (p.Pro361Ser) | COSMIC |
| X | g.149483048G>C | CA414518272 | IDS | c.1351C>G (p.Pro451Ala) c.718C>G (p.Pro240Ala) c.1081C>G (p.Pro361Ala) | |
| X | g.149483048G>T | CA414518273 | IDS | c.1351C>A (p.Pro451Thr) c.718C>A (p.Pro240Thr) c.1081C>A (p.Pro361Thr) | |
| X | g.149483048_149483049delinsGA | CA2465004031 | IDS | c.1350_1351delinsTC (p.Asp450=) c.717_718delinsTC (p.Asp239=) c.1080_1081delinsTC (p.Asp360=) | |
| X | g.149483049del | CA916084006 | IDS | c.1350del (p.Pro451ArgfsTer10) c.717del (p.Pro240ArgfsTer10) c.1080del (p.Pro361ArgfsTer10) | ClinVar dbSNP |
| X | g.149483049A>C | CA414518274 | IDS | c.1350T>G (p.Asp450Glu) c.717T>G (p.Asp239Glu) c.1080T>G (p.Asp360Glu) | |
| X | g.149483049A>G | CA519173957 | IDS | c.1350T>C (p.Asp450=) c.717T>C (p.Asp239=) c.1080T>C (p.Asp360=) | |
| X | g.149483049A>T | CA414518275 | IDS | c.1350T>A (p.Asp450Glu) c.717T>A (p.Asp239Glu) c.1080T>A (p.Asp360Glu) | ClinVar dbSNP gnomAD v4 |