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 |
|---|---|---|---|---|---|
| 13 | g.32370402_32380145del | CA2581463483 | BRCA2 | c.8332_9256del c.8332_*623del c.7963_8887del c.8332_*818del c.8332_9205del c.799_1672del c.8340_9264del c.897_2134del c.8236_9160del | |
| 13 | g.32378158_32383530del | CA2580087446 | BRCA2 | c.8755-1159_9256+3385del c.*122-1159_*623+3385del c.8386-1159_8887+3385del c.*317-1159_*818+3385del c.8755-1159_9257-363del c.8755-1159_9205+3385del c.1222-1159_1672+3385del n.882-1159_1383+3385del c.8763-1159_9264+3385del c.1633-1159_2134+3385del c.8659-1159_9160+3385del | ClinVar |
| 13 | g.32378942_32380826del | CA10602552 | BRCA2 | c.8755-375_9256+681del c.*122-375_*623+681del c.8386-375_8887+681del c.*317-375_*818+681del c.8755-375_9205+681del c.1222-375_1672+681del n.882-375_1383+681del c.8763-375_9264+681del c.1633-375_2134+681del c.8659-375_9160+681del | ClinVar |
| 13 | g.32380104T>A | CA026036 | BRCA2 | c.9215T>A (p.Val3072Glu) c.*582T>A (n.*582T>A) c.8846T>A (p.Val2949Glu) c.*777T>A (n.*777T>A) c.9164T>A (p.Val3055Glu) c.1631T>A (p.Val544Glu) n.1342T>A c.9223T>A (n.9223T>A) c.2093T>A c.98T>A (p.Val33Glu) c.172T>A c.9119T>A (p.Val3040Glu) | ClinVar dbSNP |
| 13 | g.32380104T>C | CA387758401 | BRCA2 | c.9215T>C (p.Val3072Ala) c.*582T>C (n.*582T>C) c.8846T>C (p.Val2949Ala) c.*777T>C (n.*777T>C) c.9164T>C (p.Val3055Ala) c.1631T>C (p.Val544Ala) n.1342T>C c.9223T>C (n.9223T>C) c.2093T>C c.98T>C (p.Val33Ala) c.172T>C c.9119T>C (p.Val3040Ala) | |
| 13 | g.32380104T>G | CA387758402 | BRCA2 | c.9215T>G (p.Val3072Gly) c.*582T>G (n.*582T>G) c.8846T>G (p.Val2949Gly) c.*777T>G (n.*777T>G) c.9164T>G (p.Val3055Gly) c.1631T>G (p.Val544Gly) n.1342T>G c.9223T>G (n.9223T>G) c.2093T>G c.98T>G (p.Val33Gly) c.172T>G c.9119T>G (p.Val3040Gly) | |
| 13 | g.32380104T= | CA2082840877 | BRCA2 | c.9215T= (p.Val3072=) c.*582T= (n.*582T=) c.8846T= (p.Val2949=) c.*777T= (n.*777T=) c.9164T= (p.Val3055=) c.1631T= (p.Val544=) n.1342T= c.9223T= (n.9223T=) c.2093T= c.98T= (p.Val33=) c.172T= c.9119T= (p.Val3040=) | |
| 13 | g.32380104_32380114delinsTGGACCTAATA | CA2082840887 | BRCA2 | c.9215_9225delinsTGGACCTAATA (p.Val3072=) c.*582_*592delinsTGGACCTAATA (n.*582_*592delinsTGGACCTAATA) c.8846_8856delinsTGGACCTAATA (p.Val2949=) c.*777_*787delinsTGGACCTAATA (n.*777_*787delinsTGGACCTAATA) c.9164_9174delinsTGGACCTAATA (p.Val3055=) c.1631_1641delinsTGGACCTAATA (p.Val544=) n.1342_1352delinsTGGACCTAATA c.9223_9233delinsTGGACCTAATA (n.9223_9233delinsTGGACCTAATA) c.2093_2103delinsTGGACCTAATA c.98_108delinsTGGACCTAATA (p.Val33=) c.172_182delinsTGGACCTAATA c.9119_9129delinsTGGACCTAATA (p.Val3040=) | |
| 13 | g.32380105G>A | CA6941356 | BRCA2 | c.9216G>A (p.Val3072=) c.*583G>A (n.*583G>A) c.8847G>A (p.Val2949=) c.*778G>A (n.*778G>A) c.9165G>A (p.Val3055=) c.1632G>A (p.Val544=) n.1343G>A c.9224G>A (n.9224G>A) c.2094G>A c.99G>A (p.Val33=) c.173G>A c.9120G>A (p.Val3040=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32380105G>C | CA483262107 | BRCA2 | c.9216G>C (p.Val3072=) c.*583G>C (n.*583G>C) c.8847G>C (p.Val2949=) c.*778G>C (n.*778G>C) c.9165G>C (p.Val3055=) c.1632G>C (p.Val544=) n.1343G>C c.9224G>C (n.9224G>C) c.2094G>C c.99G>C (p.Val33=) c.173G>C c.9120G>C (p.Val3040=) | dbSNP |
| 13 | g.32380105G= | CA2082840895 | BRCA2 | c.9216G= (p.Val3072=) c.*583G= (n.*583G=) c.8847G= (p.Val2949=) c.*778G= (n.*778G=) c.9165G= (p.Val3055=) c.1632G= (p.Val544=) n.1343G= c.9224G= (n.9224G=) c.2094G= c.99G= (p.Val33=) c.173G= c.9120G= (p.Val3040=) | |
| 13 | g.32380105G>T | CA483262108 | BRCA2 | c.9216G>T (p.Val3072=) c.*583G>T (n.*583G>T) c.8847G>T (p.Val2949=) c.*778G>T (n.*778G>T) c.9165G>T (p.Val3055=) c.1632G>T (p.Val544=) n.1343G>T c.9224G>T (n.9224G>T) c.2094G>T c.99G>T (p.Val33=) c.173G>T c.9120G>T (p.Val3040=) | dbSNP |
| 13 | g.32380105_32380106insTAG | CA2622601890 | BRCA2 | c.9216_9217insTAG c.*583_*584insTAG (n.*583_*584insTAG) c.8847_8848insTAG c.*778_*779insTAG (n.*778_*779insTAG) c.9165_9166insTAG c.1632_1633insTAG n.1343_1344insTAG c.9224_9225insTAG (n.9224_9225insTAG) c.2094_2095insTAG c.99_100insTAG c.173_174insTAG c.9120_9121insTAG | gnomAD v4 |
| 13 | g.32380108_32380117del | CA658656440 | BRCA2 | c.9219_9228del (p.Ile3075SerfsTer5) c.*586_*595del (n.*586_*595del) c.8850_8859del (p.Ile2952SerfsTer5) c.*781_*790del (n.*781_*790del) c.9168_9177del (p.Ile3058SerfsTer5) c.1635_1644del (p.Ile547SerfsTer5) n.1346_1355del c.9227_9236del (n.9227_9236del) c.2097_2106del c.102_111del (p.Ile36SerfsTer5) c.176_185del c.9123_9132del (p.Ile3043SerfsTer5) | ClinVar dbSNP |
| 13 | g.32380106G>A | CA387758407 | BRCA2 | c.9217G>A (p.Asp3073Asn) c.*584G>A (n.*584G>A) c.8848G>A (p.Asp2950Asn) c.*779G>A (n.*779G>A) c.9166G>A (p.Asp3056Asn) c.1633G>A (p.Asp545Asn) n.1344G>A c.9225G>A (n.9225G>A) c.2095G>A c.100G>A (p.Asp34Asn) c.174G>A c.9121G>A (p.Asp3041Asn) | dbSNP |
| 13 | g.32380106G>C | CA387758403 | BRCA2 | c.9217G>C (p.Asp3073His) c.*584G>C (n.*584G>C) c.8848G>C (p.Asp2950His) c.*779G>C (n.*779G>C) c.9166G>C (p.Asp3056His) c.1633G>C (p.Asp545His) n.1344G>C c.9225G>C (n.9225G>C) c.2095G>C c.100G>C (p.Asp34His) c.174G>C c.9121G>C (p.Asp3041His) | dbSNP |
| 13 | g.32380106G= | CA2082840907 | BRCA2 | c.9217G= (p.Asp3073=) c.*584G= (n.*584G=) c.8848G= (p.Asp2950=) c.*779G= (n.*779G=) c.9166G= (p.Asp3056=) c.1633G= (p.Asp545=) n.1344G= c.9225G= (n.9225G=) c.2095G= c.100G= (p.Asp34=) c.174G= c.9121G= (p.Asp3041=) | |
| 13 | g.32380106G>T | CA10579818 | BRCA2 | c.9217G>T (p.Asp3073Tyr) c.*584G>T (n.*584G>T) c.8848G>T (p.Asp2950Tyr) c.*779G>T (n.*779G>T) c.9166G>T (p.Asp3056Tyr) c.1633G>T (p.Asp545Tyr) n.1344G>T c.9225G>T (n.9225G>T) c.2095G>T c.100G>T (p.Asp34Tyr) c.174G>T c.9121G>T (p.Asp3041Tyr) | ClinVar dbSNP |
| 13 | g.32380107A= | CA2082840923 | BRCA2 | c.9218A= (p.Asp3073=) c.*585A= (n.*585A=) c.8849A= (p.Asp2950=) c.*780A= (n.*780A=) c.9167A= (p.Asp3056=) c.1634A= (p.Asp545=) n.1345A= c.9226A= (n.9226A=) c.2096A= c.101A= (p.Asp34=) c.175A= c.9122A= (p.Asp3041=) | |
| 13 | g.32380107A>C | CA387758417 | BRCA2 | c.9218A>C (p.Asp3073Ala) c.*585A>C (n.*585A>C) c.8849A>C (p.Asp2950Ala) c.*780A>C (n.*780A>C) c.9167A>C (p.Asp3056Ala) c.1634A>C (p.Asp545Ala) n.1345A>C c.9226A>C (n.9226A>C) c.2096A>C c.101A>C (p.Asp34Ala) c.175A>C c.9122A>C (p.Asp3041Ala) | ClinVar dbSNP |
| 13 | g.32380107A>G | CA026037 | BRCA2 | c.9218A>G (p.Asp3073Gly) c.*585A>G (n.*585A>G) c.8849A>G (p.Asp2950Gly) c.*780A>G (n.*780A>G) c.9167A>G (p.Asp3056Gly) c.1634A>G (p.Asp545Gly) n.1345A>G c.9226A>G (n.9226A>G) c.2096A>G c.101A>G (p.Asp34Gly) c.175A>G c.9122A>G (p.Asp3041Gly) | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32380107A>T | CA387758420 | BRCA2 | c.9218A>T (p.Asp3073Val) c.*585A>T (n.*585A>T) c.8849A>T (p.Asp2950Val) c.*780A>T (n.*780A>T) c.9167A>T (p.Asp3056Val) c.1634A>T (p.Asp545Val) n.1345A>T c.9226A>T (n.9226A>T) c.2096A>T c.101A>T (p.Asp34Val) c.175A>T c.9122A>T (p.Asp3041Val) | dbSNP |
| 13 | g.32380107_32380108insTTTA | CA658823636 | BRCA2 | c.9218_9219insTTTA (p.Ile3075ProfsTer?) c.*585_*586insTTTA (n.*585_*586insTTTA) c.8849_8850insTTTA (p.Ile2952ProfsTer?) c.*780_*781insTTTA (n.*780_*781insTTTA) c.9167_9168insTTTA (p.Ile3058ProfsTer?) c.1634_1635insTTTA (p.Ile547ProfsTer?) n.1345_1346insTTTA c.9226_9227insTTTA (n.9226_9227insTTTA) c.2096_2097insTTTA c.101_102insTTTA (p.Ile36ProfsTer?) c.175_176insTTTA c.9122_9123insTTTA (p.Ile3043ProfsTer?) | ClinVar dbSNP |
| 13 | g.32380107_32380108insATTT | CA10589553 | BRCA2 | c.9218_9219insATTT (p.Asp3073GlufsTer?) c.*585_*586insATTT (n.*585_*586insATTT) c.8849_8850insATTT (p.Asp2950GlufsTer?) c.*780_*781insATTT (n.*780_*781insATTT) c.9167_9168insATTT (p.Asp3056GlufsTer?) c.1634_1635insATTT (p.Asp545GlufsTer?) n.1345_1346insATTT c.9226_9227insATTT (n.9226_9227insATTT) c.2096_2097insATTT c.101_102insATTT (p.Asp34GlufsTer?) c.175_176insATTT c.9122_9123insATTT (p.Asp3041GlufsTer?) | ClinVar dbSNP |
| 13 | g.32380108C>A | CA387758426 | BRCA2 | c.9219C>A (p.Asp3073Glu) c.*586C>A (n.*586C>A) c.8850C>A (p.Asp2950Glu) c.*781C>A (n.*781C>A) c.9168C>A (p.Asp3056Glu) c.1635C>A (p.Asp545Glu) n.1346C>A c.9227C>A (n.9227C>A) c.2097C>A c.102C>A (p.Asp34Glu) c.176C>A c.9123C>A (p.Asp3041Glu) | dbSNP |
| 13 | g.32380108C>G | CA387758433 | BRCA2 | c.9219C>G (p.Asp3073Glu) c.*586C>G (n.*586C>G) c.8850C>G (p.Asp2950Glu) c.*781C>G (n.*781C>G) c.9168C>G (p.Asp3056Glu) c.1635C>G (p.Asp545Glu) n.1346C>G c.9227C>G (n.9227C>G) c.2097C>G c.102C>G (p.Asp34Glu) c.176C>G c.9123C>G (p.Asp3041Glu) | dbSNP |
| 13 | g.32380108C>T | CA483262110 | BRCA2 | c.9219C>T (p.Asp3073=) c.*586C>T (n.*586C>T) c.8850C>T (p.Asp2950=) c.*781C>T (n.*781C>T) c.9168C>T (p.Asp3056=) c.1635C>T (p.Asp545=) n.1346C>T c.9227C>T (n.9227C>T) c.2097C>T c.102C>T (p.Asp34=) c.176C>T c.9123C>T (p.Asp3041=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32380109C>A | CA387758437 | BRCA2 | c.9220C>A (p.Leu3074Ile) c.*587C>A (n.*587C>A) c.8851C>A (p.Leu2951Ile) c.*782C>A (n.*782C>A) c.9169C>A (p.Leu3057Ile) c.1636C>A (p.Leu546Ile) n.1347C>A c.9228C>A (n.9228C>A) c.2098C>A c.103C>A (p.Leu35Ile) c.177C>A c.9124C>A (p.Leu3042Ile) | dbSNP |
| 13 | g.32380109C= | CA2082840937 | BRCA2 | c.9220C= (p.Leu3074=) c.*587C= (n.*587C=) c.8851C= (p.Leu2951=) c.*782C= (n.*782C=) c.9169C= (p.Leu3057=) c.1636C= (p.Leu546=) n.1347C= c.9228C= (n.9228C=) c.2098C= c.103C= (p.Leu35=) c.177C= c.9124C= (p.Leu3042=) | |
| 13 | g.32380109C>G | CA387758445 | BRCA2 | c.9220C>G (p.Leu3074Val) c.*587C>G (n.*587C>G) c.8851C>G (p.Leu2951Val) c.*782C>G (n.*782C>G) c.9169C>G (p.Leu3057Val) c.1636C>G (p.Leu546Val) n.1347C>G c.9228C>G (n.9228C>G) c.2098C>G c.103C>G (p.Leu35Val) c.177C>G c.9124C>G (p.Leu3042Val) | ClinVar dbSNP |
| 13 | g.32380109C>T | CA6941357 | BRCA2 | c.9220C>T (p.Leu3074=) c.*587C>T (n.*587C>T) c.8851C>T (p.Leu2951=) c.*782C>T (n.*782C>T) c.9169C>T (p.Leu3057=) c.1636C>T (p.Leu546=) n.1347C>T c.9228C>T (n.9228C>T) c.2098C>T c.103C>T (p.Leu35=) c.177C>T c.9124C>T (p.Leu3042=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 13 | g.32380110T>A | CA387758449 | BRCA2 | c.9221T>A (p.Leu3074Gln) c.*588T>A (n.*588T>A) c.8852T>A (p.Leu2951Gln) c.*783T>A (n.*783T>A) c.9170T>A (p.Leu3057Gln) c.1637T>A (p.Leu546Gln) n.1348T>A c.9229T>A (n.9229T>A) c.2099T>A c.104T>A (p.Leu35Gln) c.178T>A c.9125T>A (p.Leu3042Gln) | |
| 13 | g.32380110T>C | CA387758451 | BRCA2 | c.9221T>C (p.Leu3074Pro) c.*588T>C (n.*588T>C) c.8852T>C (p.Leu2951Pro) c.*783T>C (n.*783T>C) c.9170T>C (p.Leu3057Pro) c.1637T>C (p.Leu546Pro) n.1348T>C c.9229T>C (n.9229T>C) c.2099T>C c.104T>C (p.Leu35Pro) c.178T>C c.9125T>C (p.Leu3042Pro) | |
| 13 | g.32380110T>G | CA387758463 | BRCA2 | c.9221T>G (p.Leu3074Arg) c.*588T>G (n.*588T>G) c.8852T>G (p.Leu2951Arg) c.*783T>G (n.*783T>G) c.9170T>G (p.Leu3057Arg) c.1637T>G (p.Leu546Arg) n.1348T>G c.9229T>G (n.9229T>G) c.2099T>G c.104T>G (p.Leu35Arg) c.178T>G c.9125T>G (p.Leu3042Arg) | ClinVar dbSNP |
| 13 | g.32380110T= | CA2082840949 | BRCA2 | c.9221T= (p.Leu3074=) c.*588T= (n.*588T=) c.8852T= (p.Leu2951=) c.*783T= (n.*783T=) c.9170T= (p.Leu3057=) c.1637T= (p.Leu546=) n.1348T= c.9229T= (n.9229T=) c.2099T= c.104T= (p.Leu35=) c.178T= c.9125T= (p.Leu3042=) | |
| 13 | g.32380110dup | CA2695199721 | BRCA2 | c.9221dup (p.Ile3075AsnfsTer?) c.*588dup (n.*588dup) c.8852dup (p.Ile2952AsnfsTer?) c.*783dup (n.*783dup) c.9170dup (p.Ile3058AsnfsTer?) c.1637dup (p.Ile547AsnfsTer?) n.1348dup c.9229dup (n.9229dup) c.2099dup c.104dup (p.Ile36AsnfsTer?) c.178dup c.9125dup (p.Ile3043AsnfsTer?) | ClinVar |
| 13 | g.32380111A= | CA2082840952 | BRCA2 | c.9222A= (p.Leu3074=) c.*589A= (n.*589A=) c.8853A= (p.Leu2951=) c.*784A= (n.*784A=) c.9171A= (p.Leu3057=) c.1638A= (p.Leu546=) n.1349A= c.9230A= (n.9230A=) c.2100A= c.105A= (p.Leu35=) c.179A= c.9126A= (p.Leu3042=) | |
| 13 | g.32380111A>C | CA483262114 | BRCA2 | c.9222A>C (p.Leu3074=) c.*589A>C (n.*589A>C) c.8853A>C (p.Leu2951=) c.*784A>C (n.*784A>C) c.9171A>C (p.Leu3057=) c.1638A>C (p.Leu546=) n.1349A>C c.9230A>C (n.9230A>C) c.2100A>C c.105A>C (p.Leu35=) c.179A>C c.9126A>C (p.Leu3042=) | |
| 13 | g.32380111A>G | CA026038 | BRCA2 | c.9222A>G (p.Leu3074=) c.*589A>G (n.*589A>G) c.8853A>G (p.Leu2951=) c.*784A>G (n.*784A>G) c.9171A>G (p.Leu3057=) c.1638A>G (p.Leu546=) n.1349A>G c.9230A>G (n.9230A>G) c.2100A>G c.105A>G (p.Leu35=) c.179A>G c.9126A>G (p.Leu3042=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32380111A>T | CA483262116 | BRCA2 | c.9222A>T (p.Leu3074=) c.*589A>T (n.*589A>T) c.8853A>T (p.Leu2951=) c.*784A>T (n.*784A>T) c.9171A>T (p.Leu3057=) c.1638A>T (p.Leu546=) n.1349A>T c.9230A>T (n.9230A>T) c.2100A>T c.105A>T (p.Leu35=) c.179A>T c.9126A>T (p.Leu3042=) | dbSNP |
| 13 | g.32380111_32380112insTT | CA2573053828 | BRCA2 | c.9222_9223insTT (p.Ile3075LeufsTer2) c.*589_*590insTT (n.*589_*590insTT) c.8853_8854insTT (p.Ile2952LeufsTer2) c.*784_*785insTT (n.*784_*785insTT) c.9171_9172insTT (p.Ile3058LeufsTer2) c.1638_1639insTT (p.Ile547LeufsTer2) n.1349_1350insTT c.9230_9231insTT (n.9230_9231insTT) c.2100_2101insTT c.105_106insTT (p.Ile36LeufsTer2) c.179_180insTT c.9126_9127insTT (p.Ile3043LeufsTer2) | ClinVar dbSNP |
| 13 | g.32380112A>C | CA387758468 | BRCA2 | c.9223A>C (p.Ile3075Leu) c.*590A>C (n.*590A>C) c.8854A>C (p.Ile2952Leu) c.*785A>C (n.*785A>C) c.9172A>C (p.Ile3058Leu) c.1639A>C (p.Ile547Leu) n.1350A>C c.9231A>C (n.9231A>C) c.2101A>C c.106A>C (p.Ile36Leu) c.180A>C c.9127A>C (p.Ile3043Leu) | |
| 13 | g.32380112A>G | CA387758480 | BRCA2 | c.9223A>G (p.Ile3075Val) c.*590A>G (n.*590A>G) c.8854A>G (p.Ile2952Val) c.*785A>G (n.*785A>G) c.9172A>G (p.Ile3058Val) c.1639A>G (p.Ile547Val) n.1350A>G c.9231A>G (n.9231A>G) c.2101A>G c.106A>G (p.Ile36Val) c.180A>G c.9127A>G (p.Ile3043Val) | ClinVar |
| 13 | g.32380112A>T | CA387758472 | BRCA2 | c.9223A>T (p.Ile3075Leu) c.*590A>T (n.*590A>T) c.8854A>T (p.Ile2952Leu) c.*785A>T (n.*785A>T) c.9172A>T (p.Ile3058Leu) c.1639A>T (p.Ile547Leu) n.1350A>T c.9231A>T (n.9231A>T) c.2101A>T c.106A>T (p.Ile36Leu) c.180A>T c.9127A>T (p.Ile3043Leu) | dbSNP |
| 13 | g.32380113T>A | CA387758482 | BRCA2 | c.9224T>A (p.Ile3075Lys) c.*591T>A (n.*591T>A) c.8855T>A (p.Ile2952Lys) c.*786T>A (n.*786T>A) c.9173T>A (p.Ile3058Lys) c.1640T>A (p.Ile547Lys) n.1351T>A c.9232T>A (n.9232T>A) c.2102T>A c.107T>A (p.Ile36Lys) c.181T>A c.9128T>A (p.Ile3043Lys) | ClinVar dbSNP |
| 13 | g.32380113T>C | CA387758487 | BRCA2 | c.9224T>C (p.Ile3075Thr) c.*591T>C (n.*591T>C) c.8855T>C (p.Ile2952Thr) c.*786T>C (n.*786T>C) c.9173T>C (p.Ile3058Thr) c.1640T>C (p.Ile547Thr) n.1351T>C c.9232T>C (n.9232T>C) c.2102T>C c.107T>C (p.Ile36Thr) c.181T>C c.9128T>C (p.Ile3043Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32380113T>G | CA387758491 | BRCA2 | c.9224T>G (p.Ile3075Arg) c.*591T>G (n.*591T>G) c.8855T>G (p.Ile2952Arg) c.*786T>G (n.*786T>G) c.9173T>G (p.Ile3058Arg) c.1640T>G (p.Ile547Arg) n.1351T>G c.9232T>G (n.9232T>G) c.2102T>G c.107T>G (p.Ile36Arg) c.181T>G c.9128T>G (p.Ile3043Arg) | |
| 13 | g.32380113T= | CA2082840959 | BRCA2 | c.9224T= (p.Ile3075=) c.*591T= (n.*591T=) c.8855T= (p.Ile2952=) c.*786T= (n.*786T=) c.9173T= (p.Ile3058=) c.1640T= (p.Ile547=) n.1351T= c.9232T= (n.9232T=) c.2102T= c.107T= (p.Ile36=) c.181T= c.9128T= (p.Ile3043=) | |
| 13 | g.32380114A>C | CA483262119 | BRCA2 | c.9225A>C (p.Ile3075=) c.*592A>C (n.*592A>C) c.8856A>C (p.Ile2952=) c.*787A>C (n.*787A>C) c.9174A>C (p.Ile3058=) c.1641A>C (p.Ile547=) n.1352A>C c.9233A>C (n.9233A>C) c.2103A>C c.108A>C (p.Ile36=) c.182A>C c.9129A>C (p.Ile3043=) | |
| 13 | g.32380114A>G | CA387758495 | BRCA2 | c.9225A>G (p.Ile3075Met) c.*592A>G (n.*592A>G) c.8856A>G (p.Ile2952Met) c.*787A>G (n.*787A>G) c.9174A>G (p.Ile3058Met) c.1641A>G (p.Ile547Met) n.1352A>G c.9233A>G (n.9233A>G) c.2103A>G c.108A>G (p.Ile36Met) c.182A>G c.9129A>G (p.Ile3043Met) | ClinVar dbSNP gnomAD v4 |