Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338577_32338581delinsCAGTT | CA2082809578 | BRCA2 | c.4222_4226delinsCAGTT (p.Gln1408=) c.3853_3857delinsCAGTT (p.Gln1285=) n.4222_4226delinsCAGTT | |
13 | g.32338579_32338582del | CA954694064 | BRCA2 | c.4224_4227del (p.Thr1410LeufsTer8) c.3855_3858del (p.Thr1287LeufsTer8) n.4224_4227del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338579G>A | CA337867 | BRCA2 | c.4224G>A (p.Gln1408=) c.3855G>A (p.Gln1285=) n.4224G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338579G>C | CA387780322 | BRCA2 | c.4224G>C (p.Gln1408His) c.3855G>C (p.Gln1285His) n.4224G>C | |
13 | g.32338579G= | CA2082809612 | BRCA2 | c.4224G= (p.Gln1408=) c.3855G= (p.Gln1285=) n.4224G= | |
13 | g.32338579G>T | CA387780324 | BRCA2 | c.4224G>T (p.Gln1408His) c.3855G>T (p.Gln1285His) n.4224G>T | |
13 | g.32338580T>A | CA387780326 | BRCA2 | c.4225T>A (p.Leu1409Ile) c.3856T>A (p.Leu1286Ile) n.4225T>A | dbSNP |
13 | g.32338580T>C | CA483437957 | BRCA2 | c.4225T>C (p.Leu1409=) c.3856T>C (p.Leu1286=) n.4225T>C | dbSNP |
13 | g.32338580T>G | CA387780328 | BRCA2 | c.4225T>G (p.Leu1409Val) c.3856T>G (p.Leu1286Val) n.4225T>G | ClinVar dbSNP |
13 | g.32338580T= | CA2082809628 | BRCA2 | c.4225T= (p.Leu1409=) c.3856T= (p.Leu1286=) n.4225T= | |
13 | g.32338581T>A | CA16606423 | BRCA2 | c.4226T>A (p.Leu1409Ter) c.3857T>A (p.Leu1286Ter) n.4226T>A | ClinVar dbSNP |
13 | g.32338581T>C | CA387780330 | BRCA2 | c.4226T>C (p.Leu1409Ser) c.3857T>C (p.Leu1286Ser) n.4226T>C | gnomAD v4 |
13 | g.32338581T>G | CA387780332 | BRCA2 | c.4226T>G (p.Leu1409Ter) c.3857T>G (p.Leu1286Ter) n.4226T>G | |
13 | g.32338581T= | CA2082809640 | BRCA2 | c.4226T= (p.Leu1409=) c.3857T= (p.Leu1286=) n.4226T= | |
13 | g.32338582A>C | CA387780335 | BRCA2 | c.4227A>C (p.Leu1409Phe) c.3858A>C (p.Leu1286Phe) n.4227A>C | |
13 | g.32338582A>G | CA483437958 | BRCA2 | c.4227A>G (p.Leu1409=) c.3858A>G (p.Leu1286=) n.4227A>G | |
13 | g.32338582A>T | CA387780336 | BRCA2 | c.4227A>T (p.Leu1409Phe) c.3858A>T (p.Leu1286Phe) n.4227A>T | dbSNP |
13 | g.32338583dup | CA10586066 | BRCA2 | c.4228dup (p.Thr1410AsnfsTer4) c.3859dup (p.Thr1287AsnfsTer4) n.4228dup | ClinVar dbSNP |
13 | g.32338582_32338583dup | CA2697551729 | BRCA2 | c.4227_4228dup (p.Thr1410LysfsTer10) c.3858_3859dup (p.Thr1287LysfsTer10) n.4227_4228dup | ClinVar |
13 | g.32338583A>C | CA387780342 | BRCA2 | c.4228A>C (p.Thr1410Pro) c.3859A>C (p.Thr1287Pro) n.4228A>C | dbSNP |
13 | g.32338583A>G | CA387780341 | BRCA2 | c.4228A>G (p.Thr1410Ala) c.3859A>G (p.Thr1287Ala) n.4228A>G | dbSNP |
13 | g.32338583A>T | CA387780339 | BRCA2 | c.4228A>T (p.Thr1410Ser) c.3859A>T (p.Thr1287Ser) n.4228A>T | ClinVar dbSNP |
13 | g.32338584C>A | CA387780344 | BRCA2 | c.4229C>A (p.Thr1410Asn) c.3860C>A (p.Thr1287Asn) n.4229C>A | ClinVar dbSNP |
13 | g.32338584C= | CA2082809658 | BRCA2 | c.4229C= (p.Thr1410=) c.3860C= (p.Thr1287=) n.4229C= | |
13 | g.32338584C>G | CA387780346 | BRCA2 | c.4229C>G (p.Thr1410Ser) c.3860C>G (p.Thr1287Ser) n.4229C>G | dbSNP |
13 | g.32338584C>T | CA387780348 | BRCA2 | c.4229C>T (p.Thr1410Ile) c.3860C>T (p.Thr1287Ile) n.4229C>T | dbSNP |
13 | g.32338584dup | CA2739291771 | BRCA2 | c.4229dup (p.Ala1411CysfsTer3) c.3860dup (p.Ala1288CysfsTer3) n.4229dup | |
13 | g.32338584_32338585insA | CA10589247 | BRCA2 | c.4229_4230insA (p.Ala1411CysfsTer3) c.3860_3861insA (p.Ala1288CysfsTer3) n.4229_4230insA | ClinVar dbSNP |
13 | g.32338585T>A | CA483437960 | BRCA2 | c.4230T>A (p.Thr1410=) c.3861T>A (p.Thr1287=) n.4230T>A | dbSNP |
13 | g.32338585T>C | CA483437961 | BRCA2 | c.4230T>C (p.Thr1410=) c.3861T>C (p.Thr1287=) n.4230T>C | dbSNP |
13 | g.32338585T>G | CA483437962 | BRCA2 | c.4230T>G (p.Thr1410=) c.3861T>G (p.Thr1287=) n.4230T>G | ClinVar |
13 | g.32338586G>A | CA387780352 | BRCA2 | c.4231G>A (p.Ala1411Thr) c.3862G>A (p.Ala1288Thr) n.4231G>A | dbSNP |
13 | g.32338586G>C | CA387780353 | BRCA2 | c.4231G>C (p.Ala1411Pro) c.3862G>C (p.Ala1288Pro) n.4231G>C | dbSNP |
13 | g.32338586G= | CA2082809667 | BRCA2 | c.4231G= (p.Ala1411=) c.3862G= (p.Ala1288=) n.4231G= | |
13 | g.32338586G>T | CA387780355 | BRCA2 | c.4231G>T (p.Ala1411Ser) c.3862G>T (p.Ala1288Ser) n.4231G>T | ClinVar dbSNP gnomAD v2 |
13 | g.32338587C>A | CA387780356 | BRCA2 | c.4232C>A (p.Ala1411Asp) c.3863C>A (p.Ala1288Asp) n.4232C>A | dbSNP |
13 | g.32338587C= | CA2082809692 | BRCA2 | c.4232C= (p.Ala1411=) c.3863C= (p.Ala1288=) n.4232C= | |
13 | g.32338587C>G | CA019754 | BRCA2 | c.4232C>G (p.Ala1411Gly) c.3863C>G (p.Ala1288Gly) n.4232C>G | ClinVar dbSNP |
13 | g.32338587C>T | CA387780359 | BRCA2 | c.4232C>T (p.Ala1411Val) c.3863C>T (p.Ala1288Val) n.4232C>T | dbSNP |
13 | g.32338588T>A | CA483437965 | BRCA2 | c.4233T>A (p.Ala1411=) c.3864T>A (p.Ala1288=) n.4233T>A | dbSNP |
13 | g.32338588T>C | CA483437966 | BRCA2 | c.4233T>C (p.Ala1411=) c.3864T>C (p.Ala1288=) n.4233T>C | ClinVar dbSNP |
13 | g.32338588T>G | CA483437969 | BRCA2 | c.4233T>G (p.Ala1411=) c.3864T>G (p.Ala1288=) n.4233T>G | |
13 | g.32338588T= | CA2082809703 | BRCA2 | c.4233T= (p.Ala1411=) c.3864T= (p.Ala1288=) n.4233T= | |
13 | g.32338589A= | CA2082809716 | BRCA2 | c.4234A= (p.Thr1412=) c.3865A= (p.Thr1289=) n.4234A= | |
13 | g.32338589A>C | CA387780361 | BRCA2 | c.4234A>C (p.Thr1412Pro) c.3865A>C (p.Thr1289Pro) n.4234A>C | ClinVar dbSNP |
13 | g.32338589A>G | CA387780363 | BRCA2 | c.4234A>G (p.Thr1412Ala) c.3865A>G (p.Thr1289Ala) n.4234A>G | dbSNP |
13 | g.32338589A>T | CA387780365 | BRCA2 | c.4234A>T (p.Thr1412Ser) c.3865A>T (p.Thr1289Ser) n.4234A>T | dbSNP |
13 | g.32338589_32338591delinsC | CA2831039687 | BRCA2 | c.4234_4236delinsC (p.Thr1412GlnfsTer10) c.3865_3867delinsC (p.Thr1289GlnfsTer10) n.4234_4236delinsC | |
13 | g.32338590C>A | CA387780369 | BRCA2 | c.4235C>A (p.Thr1412Asn) c.3866C>A (p.Thr1289Asn) n.4235C>A | dbSNP |
13 | g.32338590C>G | CA387780371 | BRCA2 | c.4235C>G (p.Thr1412Ser) c.3866C>G (p.Thr1289Ser) n.4235C>G | dbSNP |
13 | g.32338590C>T | CA387780367 | BRCA2 | c.4235C>T (p.Thr1412Ile) c.3866C>T (p.Thr1289Ile) n.4235C>T | dbSNP |
13 | g.32338591T>A | CA483437970 | BRCA2 | c.4236T>A (p.Thr1412=) c.3867T>A (p.Thr1289=) n.4236T>A | |
13 | g.32338591T>C | CA483437971 | BRCA2 | c.4236T>C (p.Thr1412=) c.3867T>C (p.Thr1289=) n.4236T>C | |
13 | g.32338591T>G | CA483437972 | BRCA2 | c.4236T>G (p.Thr1412=) c.3867T>G (p.Thr1289=) n.4236T>G | |
13 | g.32338591_32338592delinsTA | CA2082809717 | BRCA2 | c.4236_4237delinsTA (p.Thr1412=) c.3867_3868delinsTA (p.Thr1289=) n.4236_4237delinsTA | |
13 | g.32338592A= | CA2082809724 | BRCA2 | c.4237A= (p.Lys1413=) c.3868A= (p.Lys1290=) n.4237A= | |
13 | g.32338592A>C | CA387780375 | BRCA2 | c.4237A>C (p.Lys1413Gln) c.3868A>C (p.Lys1290Gln) n.4237A>C | |
13 | g.32338592A>G | CA10577470 | BRCA2 | c.4237A>G (p.Lys1413Glu) c.3868A>G (p.Lys1290Glu) n.4237A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338592A>T | CA387780374 | BRCA2 | c.4237A>T (p.Lys1413Ter) c.3868A>T (p.Lys1290Ter) n.4237A>T | |
13 | g.32338595del | CA919242550 | BRCA2 | c.4240del (p.Thr1414ArgfsTer5) c.3871del (p.Thr1291ArgfsTer5) n.4240del | dbSNP |
13 | g.32338593A>C | CA387780378 | BRCA2 | c.4238A>C (p.Lys1413Thr) c.3869A>C (p.Lys1290Thr) n.4238A>C | |
13 | g.32338593A>G | CA387780380 | BRCA2 | c.4238A>G (p.Lys1413Arg) c.3869A>G (p.Lys1290Arg) n.4238A>G | |
13 | g.32338593A>T | CA387780381 | BRCA2 | c.4238A>T (p.Lys1413Ile) c.3869A>T (p.Lys1290Ile) n.4238A>T | dbSNP |
13 | g.32338594A>C | CA387780385 | BRCA2 | c.4239A>C (p.Lys1413Asn) c.3870A>C (p.Lys1290Asn) n.4239A>C | dbSNP |
13 | g.32338594A>G | CA483437975 | BRCA2 | c.4239A>G (p.Lys1413=) c.3870A>G (p.Lys1290=) n.4239A>G | dbSNP |
13 | g.32338594A>T | CA387780386 | BRCA2 | c.4239A>T (p.Lys1413Asn) c.3870A>T (p.Lys1290Asn) n.4239A>T | dbSNP |
13 | g.32338595A= | CA2082809733 | BRCA2 | c.4240A= (p.Thr1414=) c.3871A= (p.Thr1291=) n.4240A= | |
13 | g.32338595A>C | CA387780388 | BRCA2 | c.4240A>C (p.Thr1414Pro) c.3871A>C (p.Thr1291Pro) n.4240A>C | dbSNP |
13 | g.32338595A>G | CA10583102 | BRCA2 | c.4240A>G (p.Thr1414Ala) c.3871A>G (p.Thr1291Ala) n.4240A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338595A>T | CA387780390 | BRCA2 | c.4240A>T (p.Thr1414Ser) c.3871A>T (p.Thr1291Ser) n.4240A>T | dbSNP |
13 | g.32338596C>A | CA387780394 | BRCA2 | c.4241C>A (p.Thr1414Lys) c.3872C>A (p.Thr1291Lys) n.4241C>A | dbSNP |
13 | g.32338596C= | CA2082809753 | BRCA2 | c.4241C= (p.Thr1414=) c.3872C= (p.Thr1291=) n.4241C= | |
13 | g.32338596C>G | CA387780392 | BRCA2 | c.4241C>G (p.Thr1414Arg) c.3872C>G (p.Thr1291Arg) n.4241C>G | |
13 | g.32338596C>T | CA019759 | BRCA2 | c.4241C>T (p.Thr1414Met) c.3872C>T (p.Thr1291Met) n.4241C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338597G>A | CA10579605 | BRCA2 | c.4242G>A (p.Thr1414=) c.3873G>A (p.Thr1291=) n.4242G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338597G>C | CA483437979 | BRCA2 | c.4242G>C (p.Thr1414=) c.3873G>C (p.Thr1291=) n.4242G>C | dbSNP |
13 | g.32338597G= | CA2082809764 | BRCA2 | c.4242G= (p.Thr1414=) c.3873G= (p.Thr1291=) n.4242G= | |
13 | g.32338597G>T | CA019766 | BRCA2 | c.4242G>T (p.Thr1414=) c.3873G>T (p.Thr1291=) n.4242G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338598G>A | CA6940761 | BRCA2 | c.4243G>A (p.Glu1415Lys) c.3874G>A (p.Glu1292Lys) n.4243G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338598G>C | CA387780398 | BRCA2 | c.4243G>C (p.Glu1415Gln) c.3874G>C (p.Glu1292Gln) n.4243G>C | ClinVar dbSNP |
13 | g.32338598G= | CA2082809776 | BRCA2 | c.4243G= (p.Glu1415=) c.3874G= (p.Glu1292=) n.4243G= | |
13 | g.32338598G>T | CA019770 | BRCA2 | c.4243G>T (p.Glu1415Ter) c.3874G>T (p.Glu1292Ter) n.4243G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338599A= | CA2082809788 | BRCA2 | c.4244A= (p.Glu1415=) c.3875A= (p.Glu1292=) n.4244A= | |
13 | g.32338599A>C | CA387780401 | BRCA2 | c.4244A>C (p.Glu1415Ala) c.3875A>C (p.Glu1292Ala) n.4244A>C | |
13 | g.32338599A>G | CA16613961 | BRCA2 | c.4244A>G (p.Glu1415Gly) c.3875A>G (p.Glu1292Gly) n.4244A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338599A>T | CA387780403 | BRCA2 | c.4244A>T (p.Glu1415Val) c.3875A>T (p.Glu1292Val) n.4244A>T | |
13 | g.32338599_32338600delinsAG | CA2082809782 | BRCA2 | c.4244_4245delinsAG (p.Glu1415=) c.3875_3876delinsAG (p.Glu1292=) n.4244_4245delinsAG | |
13 | g.32338600del | CA6940762 | BRCA2 | c.4245del (p.Glu1415AspfsTer4) c.3876del (p.Glu1292AspfsTer4) n.4245del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338600G>A | CA019776 | BRCA2 | c.4245G>A (p.Glu1415=) c.3876G>A (p.Glu1292=) n.4245G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32338600G>C | CA387780407 | BRCA2 | c.4245G>C (p.Glu1415Asp) c.3876G>C (p.Glu1292Asp) n.4245G>C | dbSNP gnomAD v4 |
13 | g.32338600G= | CA2082809799 | BRCA2 | c.4245G= (p.Glu1415=) c.3876G= (p.Glu1292=) n.4245G= | |
13 | g.32338600G>T | CA387780409 | BRCA2 | c.4245G>T (p.Glu1415Asp) c.3876G>T (p.Glu1292Asp) n.4245G>T | dbSNP |
13 | g.32338601C>A | CA387780413 | BRCA2 | c.4246C>A (p.Gln1416Lys) c.3877C>A (p.Gln1293Lys) n.4246C>A | dbSNP gnomAD v4 |
13 | g.32338601C= | CA2082809826 | BRCA2 | c.4246C= (p.Gln1416=) c.3877C= (p.Gln1293=) n.4246C= | |
13 | g.32338601C>G | CA387780415 | BRCA2 | c.4246C>G (p.Gln1416Glu) c.3877C>G (p.Gln1293Glu) n.4246C>G | dbSNP |
13 | g.32338601C>T | CA019781 | BRCA2 | c.4246C>T (p.Gln1416Ter) c.3877C>T (p.Gln1293Ter) n.4246C>T | ClinVar dbSNP |
13 | g.32338601_32338602delinsCA | CA2082809822 | BRCA2 | c.4246_4247delinsCA (p.Gln1416=) c.3877_3878delinsCA (p.Gln1293=) n.4246_4247delinsCA | |
13 | g.32338602A= | CA2082809839 | BRCA2 | c.4247A= (p.Gln1416=) c.3878A= (p.Gln1293=) n.4247A= | |
13 | g.32338602A>C | CA387780416 | BRCA2 | c.4247A>C (p.Gln1416Pro) c.3878A>C (p.Gln1293Pro) n.4247A>C | |
13 | g.32338602A>G | CA387780419 | BRCA2 | c.4247A>G (p.Gln1416Arg) c.3878A>G (p.Gln1293Arg) n.4247A>G | ClinVar dbSNP |
13 | g.32338602A>T | CA387780420 | BRCA2 | c.4247A>T (p.Gln1416Leu) c.3878A>T (p.Gln1293Leu) n.4247A>T | ClinVar |
13 | g.32338605dup | CA1139663192 | BRCA2 | c.4250dup (p.Asn1417LysfsTer6) c.3881dup (p.Asn1294LysfsTer6) n.4250dup | ClinVar dbSNP |
13 | g.32338605del | CA247507399 | BRCA2 | c.4250del (p.Asn1417IlefsTer2) c.3881del (p.Asn1294IlefsTer2) n.4250del | dbSNP |
13 | g.32338603A= | CA2082809846 | BRCA2 | c.4248A= (p.Gln1416=) c.3879A= (p.Gln1293=) n.4248A= | |
13 | g.32338603A>C | CA387780424 | BRCA2 | c.4248A>C (p.Gln1416His) c.3879A>C (p.Gln1293His) n.4248A>C | |
13 | g.32338603A>G | CA019784 | BRCA2 | c.4248A>G (p.Gln1416=) c.3879A>G (p.Gln1293=) n.4248A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338603A>T | CA387780426 | BRCA2 | c.4248A>T (p.Gln1416His) c.3879A>T (p.Gln1293His) n.4248A>T | dbSNP |
13 | g.32338604A>C | CA387780428 | BRCA2 | c.4249A>C (p.Asn1417His) c.3880A>C (p.Asn1294His) n.4249A>C | |
13 | g.32338604A>G | CA387780430 | BRCA2 | c.4249A>G (p.Asn1417Asp) c.3880A>G (p.Asn1294Asp) n.4249A>G | |
13 | g.32338604A>T | CA387780432 | BRCA2 | c.4249A>T (p.Asn1417Tyr) c.3880A>T (p.Asn1294Tyr) n.4249A>T | |
13 | g.32338605A>C | CA387780435 | BRCA2 | c.4250A>C (p.Asn1417Thr) c.3881A>C (p.Asn1294Thr) n.4250A>C | |
13 | g.32338605A>G | CA387780436 | BRCA2 | c.4250A>G (p.Asn1417Ser) c.3881A>G (p.Asn1294Ser) n.4250A>G | |
13 | g.32338605A>T | CA387780438 | BRCA2 | c.4250A>T (p.Asn1417Ile) c.3881A>T (p.Asn1294Ile) n.4250A>T | dbSNP |
13 | g.32338606T>A | CA387780442 | BRCA2 | c.4251T>A (p.Asn1417Lys) c.3882T>A (p.Asn1294Lys) n.4251T>A | dbSNP |
13 | g.32338606T>C | CA16606682 | BRCA2 | c.4251T>C (p.Asn1417=) c.3882T>C (p.Asn1294=) n.4251T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338606T>G | CA387780440 | BRCA2 | c.4251T>G (p.Asn1417Lys) c.3882T>G (p.Asn1294Lys) n.4251T>G | |
13 | g.32338606T= | CA2082809853 | BRCA2 | c.4251T= (p.Asn1417=) c.3882T= (p.Asn1294=) n.4251T= | |
13 | g.32338606_32338610delinsTATAA | CA2082809852 | BRCA2 | c.4251_4255delinsTATAA (p.Asn1417=) c.3882_3886delinsTATAA (p.Asn1294=) n.4251_4255delinsTATAA | |
13 | g.32338607A= | CA2082809864 | BRCA2 | c.4252A= (p.Ile1418=) c.3883A= (p.Ile1295=) n.4252A= | |
13 | g.32338607A>C | CA6940763 | BRCA2 | c.4252A>C (p.Ile1418Leu) c.3883A>C (p.Ile1295Leu) n.4252A>C | dbSNP ExAC gnomAD v2 |
13 | g.32338607A>G | CA019793 | BRCA2 | c.4252A>G (p.Ile1418Val) c.3883A>G (p.Ile1295Val) n.4252A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338607A>T | CA387780446 | BRCA2 | c.4252A>T (p.Ile1418Leu) c.3883A>T (p.Ile1295Leu) n.4252A>T | dbSNP |
13 | g.32338607_32338610delinsT | CA10586521 | BRCA2 | c.4252_4255delinsT (p.Ile1418Ter) c.3883_3886delinsT (p.Ile1295Ter) n.4252_4255delinsT | ClinVar dbSNP |
13 | g.32338608del | CA2580087267 | BRCA2 | c.4253del (p.Ile1418LysfsTer30) c.3884del (p.Ile1295LysfsTer30) n.4253del | ClinVar |
13 | g.32338608T>A | CA387780449 | BRCA2 | c.4253T>A (p.Ile1418Lys) c.3884T>A (p.Ile1295Lys) n.4253T>A | |
13 | g.32338608T>C | CA6940764 | BRCA2 | c.4253T>C (p.Ile1418Thr) c.3884T>C (p.Ile1295Thr) n.4253T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338608T>G | CA387780451 | BRCA2 | c.4253T>G (p.Ile1418Arg) c.3884T>G (p.Ile1295Arg) n.4253T>G | |
13 | g.32338608T= | CA2082809892 | BRCA2 | c.4253T= (p.Ile1418=) c.3884T= (p.Ile1295=) n.4253T= | |
13 | g.32338608_32338610delinsTAA | CA2082809883 | BRCA2 | c.4253_4255delinsTAA (p.Ile1418=) c.3884_3886delinsTAA (p.Ile1295=) n.4253_4255delinsTAA | |
13 | g.32338609A= | CA2082809899 | BRCA2 | c.4254A= (p.Ile1418=) c.3885A= (p.Ile1295=) n.4254A= | |
13 | g.32338609A>C | CA483437995 | BRCA2 | c.4254A>C (p.Ile1418=) c.3885A>C (p.Ile1295=) n.4254A>C | |
13 | g.32338609A>G | CA16619702 | BRCA2 | c.4254A>G (p.Ile1418Met) c.3885A>G (p.Ile1295Met) n.4254A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338609A>T | CA483437996 | BRCA2 | c.4254A>T (p.Ile1418=) c.3885A>T (p.Ile1295=) n.4254A>T | dbSNP |
13 | g.32338612del | CA2573053810 | BRCA2 | c.4257del (p.Asp1420IlefsTer28) c.3888del (p.Asp1297IlefsTer28) n.4257del | ClinVar dbSNP |
13 | g.32338611_32338612del | CA609453787 | BRCA2 | c.4256_4257del (p.Lys1419ArgfsTer3) c.3887_3888del (p.Lys1296ArgfsTer3) n.4256_4257del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338610A= | CA2082809906 | BRCA2 | c.4255A= (p.Lys1419=) c.3886A= (p.Lys1296=) n.4255A= | |
13 | g.32338610A>C | CA387780454 | BRCA2 | c.4255A>C (p.Lys1419Gln) c.3886A>C (p.Lys1296Gln) n.4255A>C | ClinVar dbSNP |
13 | g.32338610A>G | CA387780456 | BRCA2 | c.4255A>G (p.Lys1419Glu) c.3886A>G (p.Lys1296Glu) n.4255A>G | dbSNP |
13 | g.32338610A>T | CA387780457 | BRCA2 | c.4255A>T (p.Lys1419Ter) c.3886A>T (p.Lys1296Ter) n.4255A>T | dbSNP |
13 | g.32338611A= | CA2082809914 | BRCA2 | c.4256A= (p.Lys1419=) c.3887A= (p.Lys1296=) n.4256A= | |
13 | g.32338611A>C | CA387780460 | BRCA2 | c.4256A>C (p.Lys1419Thr) c.3887A>C (p.Lys1296Thr) n.4256A>C | ClinVar |
13 | g.32338611A>G | CA387780461 | BRCA2 | c.4256A>G (p.Lys1419Arg) c.3887A>G (p.Lys1296Arg) n.4256A>G | gnomAD v4 |
13 | g.32338611A>T | CA387780462 | BRCA2 | c.4256A>T (p.Lys1419Ile) c.3887A>T (p.Lys1296Ile) n.4256A>T | ClinVar dbSNP |
13 | g.32338612A>C | CA387780466 | BRCA2 | c.4257A>C (p.Lys1419Asn) c.3888A>C (p.Lys1296Asn) n.4257A>C | |
13 | g.32338612A>G | CA483437998 | BRCA2 | c.4257A>G (p.Lys1419=) c.3888A>G (p.Lys1296=) n.4257A>G | dbSNP |
13 | g.32338612A>T | CA387780464 | BRCA2 | c.4257A>T (p.Lys1419Asn) c.3888A>T (p.Lys1296Asn) n.4257A>T | dbSNP |
13 | g.32338612_32338613delinsAG | CA2082809917 | BRCA2 | c.4257_4258delinsAG (p.Lys1419=) c.3888_3889delinsAG (p.Lys1296=) n.4257_4258delinsAG | |
13 | g.32338613del | CA019805 | BRCA2 | c.4258del (p.Asp1420IlefsTer28) c.3889del (p.Asp1297IlefsTer28) n.4258del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338613G>A | CA387780469 | BRCA2 | c.4258G>A (p.Asp1420Asn) c.3889G>A (p.Asp1297Asn) n.4258G>A | dbSNP COSMIC COSMIC |
13 | g.32338613G>C | CA387780470 | BRCA2 | c.4258G>C (p.Asp1420His) c.3889G>C (p.Asp1297His) n.4258G>C | dbSNP |
13 | g.32338613G= | CA2082809925 | BRCA2 | c.4258G= (p.Asp1420=) c.3889G= (p.Asp1297=) n.4258G= | |
13 | g.32338613G>T | CA019810 | BRCA2 | c.4258G>T (p.Asp1420Tyr) c.3889G>T (p.Asp1297Tyr) n.4258G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338614A= | CA2082809933 | BRCA2 | c.4259A= (p.Asp1420=) c.3890A= (p.Asp1297=) n.4259A= | |
13 | g.32338614A>C | CA387780473 | BRCA2 | c.4259A>C (p.Asp1420Ala) c.3890A>C (p.Asp1297Ala) n.4259A>C | |
13 | g.32338614A>G | CA387780475 | BRCA2 | c.4259A>G (p.Asp1420Gly) c.3890A>G (p.Asp1297Gly) n.4259A>G | |
13 | g.32338614A>T | CA387780477 | BRCA2 | c.4259A>T (p.Asp1420Val) c.3890A>T (p.Asp1297Val) n.4259A>T | ClinVar dbSNP |
13 | g.32338614dup | CA2575387649 | BRCA2 | c.4259dup (p.Asp1420GlufsTer3) c.3890dup (p.Asp1297GlufsTer3) n.4259dup | |
13 | g.32338615T>A | CA387780481 | BRCA2 | c.4260T>A (p.Asp1420Glu) c.3891T>A (p.Asp1297Glu) n.4260T>A | dbSNP |
13 | g.32338615T>C | CA483438002 | BRCA2 | c.4260T>C (p.Asp1420=) c.3891T>C (p.Asp1297=) n.4260T>C | |
13 | g.32338615T>G | CA387780479 | BRCA2 | c.4260T>G (p.Asp1420Glu) c.3891T>G (p.Asp1297Glu) n.4260T>G | dbSNP |
13 | g.32338615delinsAA | CA2499222161 | BRCA2 | c.4260delinsAA (p.Asp1420GlufsTer3) c.3891delinsAA (p.Asp1297GlufsTer3) n.4260delinsAA | ClinVar dbSNP |
13 | g.32338618dup | CA16619703 | BRCA2 | c.4263dup (p.Glu1422Ter) c.3894dup (p.Glu1299Ter) n.4263dup | ClinVar dbSNP gnomAD v4 |
13 | g.32338619_32338638del | CA2499222160 | BRCA2 | c.4264_4283del (p.Glu1422SerfsTer9) c.3895_3914del (p.Glu1299SerfsTer9) n.4264_4283del | |
13 | g.32338616T>A | CA387780484 | BRCA2 | c.4261T>A (p.Phe1421Ile) c.3892T>A (p.Phe1298Ile) n.4261T>A | dbSNP |
13 | g.32338616T>C | CA10583103 | BRCA2 | c.4261T>C (p.Phe1421Leu) c.3892T>C (p.Phe1298Leu) n.4261T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338616T>G | CA387780495 | BRCA2 | c.4261T>G (p.Phe1421Val) c.3892T>G (p.Phe1298Val) n.4261T>G | |
13 | g.32338616T= | CA2082809951 | BRCA2 | c.4261T= (p.Phe1421=) c.3892T= (p.Phe1298=) n.4261T= | |
13 | g.32338616_32338623delinsTTTGAGAC | CA2082809955 | BRCA2 | c.4261_4268delinsTTTGAGAC (p.Phe1421=) c.3892_3899delinsTTTGAGAC (p.Phe1298=) n.4261_4268delinsTTTGAGAC | |
13 | g.32338617T>A | CA387780496 | BRCA2 | c.4262T>A (p.Phe1421Tyr) c.3893T>A (p.Phe1298Tyr) n.4262T>A | dbSNP |
13 | g.32338617T>C | CA387780498 | BRCA2 | c.4262T>C (p.Phe1421Ser) c.3893T>C (p.Phe1298Ser) n.4262T>C | gnomAD v4 |
13 | g.32338617T>G | CA387780501 | BRCA2 | c.4262T>G (p.Phe1421Cys) c.3893T>G (p.Phe1298Cys) n.4262T>G | |
13 | g.32338619_32338625del | CA10589248 | BRCA2 | c.4264_4270del (p.Glu1422LeufsTer24) c.3895_3901del (p.Glu1299LeufsTer24) n.4264_4270del | ClinVar dbSNP |
13 | g.32338618T>A | CA387780504 | BRCA2 | c.4263T>A (p.Phe1421Leu) c.3894T>A (p.Phe1298Leu) n.4263T>A | |
13 | g.32338618T>C | CA019859 | BRCA2 | c.4263T>C (p.Phe1421=) c.3894T>C (p.Phe1298=) n.4263T>C | ClinVar dbSNP |
13 | g.32338618T>G | CA387780507 | BRCA2 | c.4263T>G (p.Phe1421Leu) c.3894T>G (p.Phe1298Leu) n.4263T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338618T= | CA2082809981 | BRCA2 | c.4263T= (p.Phe1421=) c.3894T= (p.Phe1298=) n.4263T= | |
13 | g.32338618_32338620delinsTGA | CA2082809986 | BRCA2 | c.4263_4265delinsTGA (p.Phe1421=) c.3894_3896delinsTGA (p.Phe1298=) n.4263_4265delinsTGA | |
13 | g.32338619G>A | CA387780511 | BRCA2 | c.4264G>A (p.Glu1422Lys) c.3895G>A (p.Glu1299Lys) n.4264G>A | dbSNP |
13 | g.32338619G>C | CA387780514 | BRCA2 | c.4264G>C (p.Glu1422Gln) c.3895G>C (p.Glu1299Gln) n.4264G>C | dbSNP |
13 | g.32338619G>T | CA387780515 | BRCA2 | c.4264G>T (p.Glu1422Ter) c.3895G>T (p.Glu1299Ter) n.4264G>T | ClinVar dbSNP |
13 | g.32338621_32338622del | CA658656339 | BRCA2 | c.4266_4267del (p.Glu1422AspfsTer3) c.3897_3898del (p.Glu1299AspfsTer3) n.4266_4267del | ClinVar dbSNP |
13 | g.32338620A= | CA2082809996 | BRCA2 | c.4265A= (p.Glu1422=) c.3896A= (p.Glu1299=) n.4265A= | |
13 | g.32338620A>C | CA387780518 | BRCA2 | c.4265A>C (p.Glu1422Ala) c.3896A>C (p.Glu1299Ala) n.4265A>C | dbSNP |
13 | g.32338620A>G | CA387780520 | BRCA2 | c.4265A>G (p.Glu1422Gly) c.3896A>G (p.Glu1299Gly) n.4265A>G | dbSNP |
13 | g.32338620A>T | CA387780523 | BRCA2 | c.4265A>T (p.Glu1422Val) c.3896A>T (p.Glu1299Val) n.4265A>T | ClinVar dbSNP |
13 | g.32338621G>A | CA483438009 | BRCA2 | c.4266G>A (p.Glu1422=) c.3897G>A (p.Glu1299=) n.4266G>A | ClinVar dbSNP |
13 | g.32338621G>C | CA387780526 | BRCA2 | c.4266G>C (p.Glu1422Asp) c.3897G>C (p.Glu1299Asp) n.4266G>C | ClinVar dbSNP |
13 | g.32338621G= | CA2082810000 | BRCA2 | c.4266G= (p.Glu1422=) c.3897G= (p.Glu1299=) n.4266G= | |
13 | g.32338621G>T | CA387780527 | BRCA2 | c.4266G>T (p.Glu1422Asp) c.3897G>T (p.Glu1299Asp) n.4266G>T | dbSNP gnomAD v4 |
13 | g.32338622A= | CA2082810005 | BRCA2 | c.4267A= (p.Thr1423=) c.3898A= (p.Thr1300=) n.4267A= | |
13 | g.32338622A>C | CA387780528 | BRCA2 | c.4267A>C (p.Thr1423Pro) c.3898A>C (p.Thr1300Pro) n.4267A>C | dbSNP |
13 | g.32338622A>G | CA6940765 | BRCA2 | c.4267A>G (p.Thr1423Ala) c.3898A>G (p.Thr1300Ala) n.4267A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338622A>T | CA387780531 | BRCA2 | c.4267A>T (p.Thr1423Ser) c.3898A>T (p.Thr1300Ser) n.4267A>T | dbSNP |
13 | g.32338623C>A | CA387780532 | BRCA2 | c.4268C>A (p.Thr1423Asn) c.3899C>A (p.Thr1300Asn) n.4268C>A | dbSNP |
13 | g.32338623C= | CA2082810009 | BRCA2 | c.4268C= (p.Thr1423=) c.3899C= (p.Thr1300=) n.4268C= | |
13 | g.32338623C>G | CA387780535 | BRCA2 | c.4268C>G (p.Thr1423Ser) c.3899C>G (p.Thr1300Ser) n.4268C>G | dbSNP |
13 | g.32338623C>T | CA387780533 | BRCA2 | c.4268C>T (p.Thr1423Ile) c.3899C>T (p.Thr1300Ile) n.4268C>T | ClinVar dbSNP |
13 | g.32338624T>A | CA483438012 | BRCA2 | c.4269T>A (p.Thr1423=) c.3900T>A (p.Thr1300=) n.4269T>A | dbSNP |
13 | g.32338624T>C | CA019873 | BRCA2 | c.4269T>C (p.Thr1423=) c.3900T>C (p.Thr1300=) n.4269T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338624T>G | CA483438016 | BRCA2 | c.4269T>G (p.Thr1423=) c.3900T>G (p.Thr1300=) n.4269T>G | ClinVar dbSNP |
13 | g.32338624T= | CA2082810018 | BRCA2 | c.4269T= (p.Thr1423=) c.3900T= (p.Thr1300=) n.4269T= | |
13 | g.32338625dup | CA658683807 | BRCA2 | c.4270dup (p.Ser1424PhefsTer2) c.3901dup (p.Ser1301PhefsTer2) n.4270dup | ClinVar dbSNP |
13 | g.32338625T>A | CA387780552 | BRCA2 | c.4270T>A (p.Ser1424Thr) c.3901T>A (p.Ser1301Thr) n.4270T>A | dbSNP |
13 | g.32338625T>C | CA387780554 | BRCA2 | c.4270T>C (p.Ser1424Pro) c.3901T>C (p.Ser1301Pro) n.4270T>C | dbSNP |
13 | g.32338625T>G | CA387780556 | BRCA2 | c.4270T>G (p.Ser1424Ala) c.3901T>G (p.Ser1301Ala) n.4270T>G | |
13 | g.32338625_32338626delinsTC | CA2082810028 | BRCA2 | c.4270_4271delinsTC (p.Ser1424=) c.3901_3902delinsTC (p.Ser1301=) n.4270_4271delinsTC | |
13 | g.32338626del | CA019882 | BRCA2 | c.4271del (p.Ser1424LeufsTer24) c.3902del (p.Ser1301LeufsTer24) n.4271del | ClinVar dbSNP |
13 | g.32338626C>A | CA387780558 | BRCA2 | c.4271C>A (p.Ser1424Tyr) c.3902C>A (p.Ser1301Tyr) n.4271C>A | dbSNP |
13 | g.32338626C= | CA2082810039 | BRCA2 | c.4271C= (p.Ser1424=) c.3902C= (p.Ser1301=) n.4271C= | |
13 | g.32338626C>G | CA019877 | BRCA2 | c.4271C>G (p.Ser1424Cys) c.3902C>G (p.Ser1301Cys) n.4271C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338626C>T | CA387780560 | BRCA2 | c.4271C>T (p.Ser1424Phe) c.3902C>T (p.Ser1301Phe) n.4271C>T | dbSNP |
13 | g.32338626_32338628del | CA2622601024 | BRCA2 | c.4271_4273del (p.Ser1424_Asp1425delinsTyr) c.3902_3904del (p.Ser1301_Asp1302delinsTyr) n.4271_4273del | gnomAD v4 |
13 | g.32338627T>A | CA483438116 | BRCA2 | c.4272T>A (p.Ser1424=) c.3903T>A (p.Ser1301=) n.4272T>A | dbSNP |
13 | g.32338627T>C | CA483438114 | BRCA2 | c.4272T>C (p.Ser1424=) c.3903T>C (p.Ser1301=) n.4272T>C | ClinVar COSMIC COSMIC |
13 | g.32338627T>G | CA483438113 | BRCA2 | c.4272T>G (p.Ser1424=) c.3903T>G (p.Ser1301=) n.4272T>G | |
13 | g.32338627_32338628delinsTG | CA2082810044 | BRCA2 | c.4272_4273delinsTG (p.Ser1424=) c.3903_3904delinsTG (p.Ser1301=) n.4272_4273delinsTG | |
13 | g.32338628del | CA16613968 | BRCA2 | c.4273del (p.Asp1425IlefsTer23) c.3904del (p.Asp1302IlefsTer23) n.4273del | ClinVar dbSNP |
13 | g.32338628G>A | CA387780563 | BRCA2 | c.4273G>A (p.Asp1425Asn) c.3904G>A (p.Asp1302Asn) n.4273G>A | ClinVar dbSNP |
13 | g.32338628G>C | CA387780565 | BRCA2 | c.4273G>C (p.Asp1425His) c.3904G>C (p.Asp1302His) n.4273G>C | dbSNP COSMIC COSMIC |
13 | g.32338628G>T | CA387780568 | BRCA2 | c.4273G>T (p.Asp1425Tyr) c.3904G>T (p.Asp1302Tyr) n.4273G>T | |
13 | g.32338629A= | CA2082810062 | BRCA2 | c.4274A= (p.Asp1425=) c.3905A= (p.Asp1302=) n.4274A= | |
13 | g.32338629A>C | CA387780570 | BRCA2 | c.4274A>C (p.Asp1425Ala) c.3905A>C (p.Asp1302Ala) n.4274A>C | ClinVar |
13 | g.32338629A>G | CA019888 | BRCA2 | c.4274A>G (p.Asp1425Gly) c.3905A>G (p.Asp1302Gly) n.4274A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338629A>T | CA387780575 | BRCA2 | c.4274A>T (p.Asp1425Val) c.3905A>T (p.Asp1302Val) n.4274A>T | ClinVar dbSNP |
13 | g.32338630T>A | CA387780577 | BRCA2 | c.4275T>A (p.Asp1425Glu) c.3906T>A (p.Asp1302Glu) n.4275T>A | ClinVar dbSNP |
13 | g.32338630T>C | CA483438122 | BRCA2 | c.4275T>C (p.Asp1425=) c.3906T>C (p.Asp1302=) n.4275T>C | |
13 | g.32338630T>G | CA387780578 | BRCA2 | c.4275T>G (p.Asp1425Glu) c.3906T>G (p.Asp1302Glu) n.4275T>G | dbSNP |
13 | g.32338630T= | CA2082810069 | BRCA2 | c.4275T= (p.Asp1425=) c.3906T= (p.Asp1302=) n.4275T= | |
13 | g.32338631A= | CA2082810081 | BRCA2 | c.4276A= (p.Thr1426=) c.3907A= (p.Thr1303=) n.4276A= | |
13 | g.32338631A>C | CA387780581 | BRCA2 | c.4276A>C (p.Thr1426Pro) c.3907A>C (p.Thr1303Pro) n.4276A>C | |
13 | g.32338631A>G | CA10579606 | BRCA2 | c.4276A>G (p.Thr1426Ala) c.3907A>G (p.Thr1303Ala) n.4276A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338631A>T | CA387780586 | BRCA2 | c.4276A>T (p.Thr1426Ser) c.3907A>T (p.Thr1303Ser) n.4276A>T | dbSNP |
13 | g.32338631dup | CA019892 | BRCA2 | c.4276dup (p.Thr1426AsnfsTer12) c.3907dup (p.Thr1303AsnfsTer12) n.4276dup | ClinVar dbSNP gnomAD v4 |
13 | g.32338631_32338632delinsAC | CA2082810079 | BRCA2 | c.4276_4277delinsAC (p.Thr1426=) c.3907_3908delinsAC (p.Thr1303=) n.4276_4277delinsAC | |
13 | g.32338632del | CA019898 | BRCA2 | c.4277del (p.Thr1426AsnfsTer22) c.3908del (p.Thr1303AsnfsTer22) n.4277del | ClinVar dbSNP |
13 | g.32338632C>A | CA387780587 | BRCA2 | c.4277C>A (p.Thr1426Lys) c.3908C>A (p.Thr1303Lys) n.4277C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338632C= | CA2082810106 | BRCA2 | c.4277C= (p.Thr1426=) c.3908C= (p.Thr1303=) n.4277C= | |
13 | g.32338632C>G | CA387780591 | BRCA2 | c.4277C>G (p.Thr1426Arg) c.3908C>G (p.Thr1303Arg) n.4277C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338632C>T | CA6940766 | BRCA2 | c.4277C>T (p.Thr1426Ile) c.3908C>T (p.Thr1303Ile) n.4277C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338633A= | CA2082810123 | BRCA2 | c.4278A= (p.Thr1426=) c.3909A= (p.Thr1303=) n.4278A= | |
13 | g.32338633A>C | CA483438130 | BRCA2 | c.4278A>C (p.Thr1426=) c.3909A>C (p.Thr1303=) n.4278A>C | |
13 | g.32338633A>G | CA483438133 | BRCA2 | c.4278A>G (p.Thr1426=) c.3909A>G (p.Thr1303=) n.4278A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338633A>T | CA483438131 | BRCA2 | c.4278A>T (p.Thr1426=) c.3909A>T (p.Thr1303=) n.4278A>T | ClinVar dbSNP |
13 | g.32338633_32338634delinsAT | CA2082810117 | BRCA2 | c.4278_4279delinsAT (p.Thr1426=) c.3909_3910delinsAT (p.Thr1303=) n.4278_4279delinsAT | |
13 | g.32338634T>A | CA019902 | BRCA2 | c.4279T>A (p.Phe1427Ile) c.3910T>A (p.Phe1304Ile) n.4279T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338634T>C | CA387780602 | BRCA2 | c.4279T>C (p.Phe1427Leu) c.3910T>C (p.Phe1304Leu) n.4279T>C | |
13 | g.32338634T>G | CA387780605 | BRCA2 | c.4279T>G (p.Phe1427Val) c.3910T>G (p.Phe1304Val) n.4279T>G | |
13 | g.32338634T= | CA2082810143 | BRCA2 | c.4279T= (p.Phe1427=) c.3910T= (p.Phe1304=) n.4279T= | |
13 | g.32338639dup | CA019907 | BRCA2 | c.4284dup (p.Gln1429SerfsTer9) c.3915dup (p.Gln1306SerfsTer9) n.4284dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338639del | CA658823573 | BRCA2 | c.4284del (p.Gln1429ArgfsTer19) c.3915del (p.Gln1306ArgfsTer19) n.4284del | ClinVar dbSNP gnomAD v4 |
13 | g.32338635T>A | CA387780608 | BRCA2 | c.4280T>A (p.Phe1427Tyr) c.3911T>A (p.Phe1304Tyr) n.4280T>A | ClinVar dbSNP |
13 | g.32338635T>C | CA247507435 | BRCA2 | c.4280T>C (p.Phe1427Ser) c.3911T>C (p.Phe1304Ser) n.4280T>C | dbSNP |
13 | g.32338635T>G | CA387780611 | BRCA2 | c.4280T>G (p.Phe1427Cys) c.3911T>G (p.Phe1304Cys) n.4280T>G | |
13 | g.32338635T= | CA2082810163 | BRCA2 | c.4280T= (p.Phe1427=) c.3911T= (p.Phe1304=) n.4280T= | |
13 | g.32338636T>A | CA387780615 | BRCA2 | c.4281T>A (p.Phe1427Leu) c.3912T>A (p.Phe1304Leu) n.4281T>A | dbSNP |
13 | g.32338636T>C | CA483438137 | BRCA2 | c.4281T>C (p.Phe1427=) c.3912T>C (p.Phe1304=) n.4281T>C | dbSNP |
13 | g.32338636T>G | CA387780616 | BRCA2 | c.4281T>G (p.Phe1427Leu) c.3912T>G (p.Phe1304Leu) n.4281T>G | ClinVar dbSNP |
13 | g.32338636T= | CA2082810168 | BRCA2 | c.4281T= (p.Phe1427=) c.3912T= (p.Phe1304=) n.4281T= | |
13 | g.32338637T>A | CA387780618 | BRCA2 | c.4282T>A (p.Phe1428Ile) c.3913T>A (p.Phe1305Ile) n.4282T>A | |
13 | g.32338637T>C | CA387780619 | BRCA2 | c.4282T>C (p.Phe1428Leu) c.3913T>C (p.Phe1305Leu) n.4282T>C | |
13 | g.32338637T>G | CA387780622 | BRCA2 | c.4282T>G (p.Phe1428Val) c.3913T>G (p.Phe1305Val) n.4282T>G | |
13 | g.32338638T>A | CA387780623 | BRCA2 | c.4283T>A (p.Phe1428Tyr) c.3914T>A (p.Phe1305Tyr) n.4283T>A | dbSNP |
13 | g.32338638T>C | CA387780624 | BRCA2 | c.4283T>C (p.Phe1428Ser) c.3914T>C (p.Phe1305Ser) n.4283T>C | dbSNP |
13 | g.32338638T>G | CA387780625 | BRCA2 | c.4283T>G (p.Phe1428Cys) c.3914T>G (p.Phe1305Cys) n.4283T>G | |
13 | g.32338639T>A | CA387780626 | BRCA2 | c.4284T>A (p.Phe1428Leu) c.3915T>A (p.Phe1305Leu) n.4284T>A | dbSNP |
13 | g.32338639T>C | CA483438142 | BRCA2 | c.4284T>C (p.Phe1428=) c.3915T>C (p.Phe1305=) n.4284T>C | dbSNP |
13 | g.32338639T>G | CA387780630 | BRCA2 | c.4284T>G (p.Phe1428Leu) c.3915T>G (p.Phe1305Leu) n.4284T>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338639T= | CA2082810176 | BRCA2 | c.4284T= (p.Phe1428=) c.3915T= (p.Phe1305=) n.4284T= | |
13 | g.32338640C>A | CA387780632 | BRCA2 | c.4285C>A (p.Gln1429Lys) c.3916C>A (p.Gln1306Lys) n.4285C>A | dbSNP gnomAD v4 |
13 | g.32338640C= | CA2082810205 | BRCA2 | c.4285C= (p.Gln1429=) c.3916C= (p.Gln1306=) n.4285C= | |
13 | g.32338640C>G | CA387780634 | BRCA2 | c.4285C>G (p.Gln1429Glu) c.3916C>G (p.Gln1306Glu) n.4285C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338640C>T | CA019916 | BRCA2 | c.4285C>T (p.Gln1429Ter) c.3916C>T (p.Gln1306Ter) n.4285C>T | ClinVar dbSNP |
13 | g.32338640dup | CA2499222162 | BRCA2 | c.4285dup (p.Gln1429ProfsTer9) c.3916dup (p.Gln1306ProfsTer9) n.4285dup | |
13 | g.32338640_32338641insT | CA10589249 | BRCA2 | c.4285_4286insT (p.Gln1429LeufsTer9) c.3916_3917insT (p.Gln1306LeufsTer9) n.4285_4286insT | ClinVar dbSNP |
13 | g.32338641A>C | CA387780640 | BRCA2 | c.4286A>C (p.Gln1429Pro) c.3917A>C (p.Gln1306Pro) n.4286A>C | |
13 | g.32338641A>G | CA387780638 | BRCA2 | c.4286A>G (p.Gln1429Arg) c.3917A>G (p.Gln1306Arg) n.4286A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338641A>T | CA387780639 | BRCA2 | c.4286A>T (p.Gln1429Leu) c.3917A>T (p.Gln1306Leu) n.4286A>T | dbSNP |
13 | g.32338642G>A | CA483438145 | BRCA2 | c.4287G>A (p.Gln1429=) c.3918G>A (p.Gln1306=) n.4287G>A | dbSNP |
13 | g.32338642G>C | CA387780641 | BRCA2 | c.4287G>C (p.Gln1429His) c.3918G>C (p.Gln1306His) n.4287G>C | dbSNP gnomAD v4 |
13 | g.32338642G= | CA2082810225 | BRCA2 | c.4287G= (p.Gln1429=) c.3918G= (p.Gln1306=) n.4287G= | |
13 | g.32338642G>T | CA387780642 | BRCA2 | c.4287G>T (p.Gln1429His) c.3918G>T (p.Gln1306His) n.4287G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338643A= | CA2082810228 | BRCA2 | c.4288A= (p.Thr1430=) c.3919A= (p.Thr1307=) n.4288A= | |
13 | g.32338643A>C | CA387780643 | BRCA2 | c.4288A>C (p.Thr1430Pro) c.3919A>C (p.Thr1307Pro) n.4288A>C | |
13 | g.32338643A>G | CA387780645 | BRCA2 | c.4288A>G (p.Thr1430Ala) c.3919A>G (p.Thr1307Ala) n.4288A>G | ClinVar dbSNP |
13 | g.32338643A>T | CA387780647 | BRCA2 | c.4288A>T (p.Thr1430Ser) c.3919A>T (p.Thr1307Ser) n.4288A>T | dbSNP |
13 | g.32338644C>A | CA387780651 | BRCA2 | c.4289C>A (p.Thr1430Asn) c.3920C>A (p.Thr1307Asn) n.4289C>A | dbSNP |
13 | g.32338644C= | CA2082810235 | BRCA2 | c.4289C= (p.Thr1430=) c.3920C= (p.Thr1307=) n.4289C= | |
13 | g.32338644C>G | CA387780656 | BRCA2 | c.4289C>G (p.Thr1430Ser) c.3920C>G (p.Thr1307Ser) n.4289C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338644C>T | CA10579607 | BRCA2 | c.4289C>T (p.Thr1430Ile) c.3920C>T (p.Thr1307Ile) n.4289C>T | ClinVar dbSNP |
13 | g.32338645T>A | CA483438147 | BRCA2 | c.4290T>A (p.Thr1430=) c.3921T>A (p.Thr1307=) n.4290T>A | dbSNP |
13 | g.32338645T>C | CA483438149 | BRCA2 | c.4290T>C (p.Thr1430=) c.3921T>C (p.Thr1307=) n.4290T>C | ClinVar dbSNP |
13 | g.32338645T>G | CA483438151 | BRCA2 | c.4290T>G (p.Thr1430=) c.3921T>G (p.Thr1307=) n.4290T>G | ClinVar gnomAD v4 |
13 | g.32338645T= | CA2082810245 | BRCA2 | c.4290T= (p.Thr1430=) c.3921T= (p.Thr1307=) n.4290T= | |
13 | g.32338646G>A | CA387780658 | BRCA2 | c.4291G>A (p.Ala1431Thr) c.3922G>A (p.Ala1308Thr) n.4291G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338646G>C | CA387780659 | BRCA2 | c.4291G>C (p.Ala1431Pro) c.3922G>C (p.Ala1308Pro) n.4291G>C | ClinVar dbSNP |
13 | g.32338646G>T | CA387780662 | BRCA2 | c.4291G>T (p.Ala1431Ser) c.3922G>T (p.Ala1308Ser) n.4291G>T | |
13 | g.32338647C>A | CA387780676 | BRCA2 | c.4292C>A (p.Ala1431Glu) c.3923C>A (p.Ala1308Glu) n.4292C>A | dbSNP gnomAD v4 |
13 | g.32338647C= | CA2082810255 | BRCA2 | c.4292C= (p.Ala1431=) c.3923C= (p.Ala1308=) n.4292C= | |
13 | g.32338647C>G | CA387780675 | BRCA2 | c.4292C>G (p.Ala1431Gly) c.3923C>G (p.Ala1308Gly) n.4292C>G | dbSNP |
13 | g.32338647C>T | CA10579608 | BRCA2 | c.4292C>T (p.Ala1431Val) c.3923C>T (p.Ala1308Val) n.4292C>T | ClinVar dbSNP |
13 | g.32338648A= | CA2082810263 | BRCA2 | c.4293A= (p.Ala1431=) c.3924A= (p.Ala1308=) n.4293A= | |
13 | g.32338648A>C | CA483438154 | BRCA2 | c.4293A>C (p.Ala1431=) c.3924A>C (p.Ala1308=) n.4293A>C | |
13 | g.32338648A>G | CA019925 | BRCA2 | c.4293A>G (p.Ala1431=) c.3924A>G (p.Ala1308=) n.4293A>G | ClinVar dbSNP |
13 | g.32338648A>T | CA483438155 | BRCA2 | c.4293A>T (p.Ala1431=) c.3924A>T (p.Ala1308=) n.4293A>T | |
13 | g.32338649A= | CA2082810270 | BRCA2 | c.4294A= (p.Ser1432=) c.3925A= (p.Ser1309=) n.4294A= | |
13 | g.32338649A>C | CA387780677 | BRCA2 | c.4294A>C (p.Ser1432Arg) c.3925A>C (p.Ser1309Arg) n.4294A>C | |
13 | g.32338649A>G | CA019930 | BRCA2 | c.4294A>G (p.Ser1432Gly) c.3925A>G (p.Ser1309Gly) n.4294A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338649A>T | CA387780678 | BRCA2 | c.4294A>T (p.Ser1432Cys) c.3925A>T (p.Ser1309Cys) n.4294A>T | dbSNP |
13 | g.32338650G>A | CA387780679 | BRCA2 | c.4295G>A (p.Ser1432Asn) c.3926G>A (p.Ser1309Asn) n.4295G>A | ClinVar dbSNP |
13 | g.32338650G>C | CA387780681 | BRCA2 | c.4295G>C (p.Ser1432Thr) c.3926G>C (p.Ser1309Thr) n.4295G>C | dbSNP |
13 | g.32338650G= | CA2082810278 | BRCA2 | c.4295G= (p.Ser1432=) c.3926G= (p.Ser1309=) n.4295G= | |
13 | g.32338650G>T | CA387780683 | BRCA2 | c.4295G>T (p.Ser1432Ile) c.3926G>T (p.Ser1309Ile) n.4295G>T | dbSNP |
13 | g.32338651T>A | CA387780685 | BRCA2 | c.4296T>A (p.Ser1432Arg) c.3927T>A (p.Ser1309Arg) n.4296T>A | ClinVar |
13 | g.32338651T>C | CA483438159 | BRCA2 | c.4296T>C (p.Ser1432=) c.3927T>C (p.Ser1309=) n.4296T>C | |
13 | g.32338651T>G | CA16619704 | BRCA2 | c.4296T>G (p.Ser1432Arg) c.3927T>G (p.Ser1309Arg) n.4296T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338651T= | CA2082810284 | BRCA2 | c.4296T= (p.Ser1432=) c.3927T= (p.Ser1309=) n.4296T= | |
13 | g.32338652G>A | CA387780694 | BRCA2 | c.4297G>A (p.Gly1433Arg) c.3928G>A (p.Gly1310Arg) n.4297G>A | gnomAD v4 COSMIC COSMIC |
13 | g.32338652G>C | CA387780696 | BRCA2 | c.4297G>C (p.Gly1433Arg) c.3928G>C (p.Gly1310Arg) n.4297G>C | |
13 | g.32338652G= | CA2082810290 | BRCA2 | c.4297G= (p.Gly1433=) c.3928G= (p.Gly1310=) n.4297G= | |
13 | g.32338652G>T | CA247507454 | BRCA2 | c.4297G>T (p.Gly1433Trp) c.3928G>T (p.Gly1310Trp) n.4297G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338653G>A | CA6940767 | BRCA2 | c.4298G>A (p.Gly1433Glu) c.3929G>A (p.Gly1310Glu) n.4298G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338653G>C | CA387780700 | BRCA2 | c.4298G>C (p.Gly1433Ala) c.3929G>C (p.Gly1310Ala) n.4298G>C | dbSNP |
13 | g.32338653G= | CA2082810302 | BRCA2 | c.4298G= (p.Gly1433=) c.3929G= (p.Gly1310=) n.4298G= | |
13 | g.32338653G>T | CA387780703 | BRCA2 | c.4298G>T (p.Gly1433Val) c.3929G>T (p.Gly1310Val) n.4298G>T | ClinVar dbSNP |
13 | g.32338654G>A | CA483438163 | BRCA2 | c.4299G>A (p.Gly1433=) c.3930G>A (p.Gly1310=) n.4299G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338654G>C | CA483438160 | BRCA2 | c.4299G>C (p.Gly1433=) c.3930G>C (p.Gly1310=) n.4299G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338654G= | CA2082810320 | BRCA2 | c.4299G= (p.Gly1433=) c.3930G= (p.Gly1310=) n.4299G= | |
13 | g.32338654G>T | CA483438162 | BRCA2 | c.4299G>T (p.Gly1433=) c.3930G>T (p.Gly1310=) n.4299G>T | ClinVar dbSNP |
13 | g.32338654_32338655delinsGA | CA2082810324 | BRCA2 | c.4299_4300delinsGA (p.Gly1433=) c.3930_3931delinsGA (p.Gly1310=) n.4299_4300delinsGA | |
13 | g.32338655A= | CA2082810336 | BRCA2 | c.4300A= (p.Lys1434=) c.3931A= (p.Lys1311=) n.4300A= | |
13 | g.32338655A>C | CA387780708 | BRCA2 | c.4300A>C (p.Lys1434Gln) c.3931A>C (p.Lys1311Gln) n.4300A>C | |
13 | g.32338655A>G | CA10579609 | BRCA2 | c.4300A>G (p.Lys1434Glu) c.3931A>G (p.Lys1311Glu) n.4300A>G | ClinVar dbSNP |
13 | g.32338655A>T | CA387780710 | BRCA2 | c.4300A>T (p.Lys1434Ter) c.3931A>T (p.Lys1311Ter) n.4300A>T | dbSNP |
13 | g.32338659dup | CA2697551733 | BRCA2 | c.4304dup (p.Asn1435LysfsTer3) c.3935dup (p.Asn1312LysfsTer3) n.4304dup | ClinVar |
13 | g.32338659del | CA10589250 | BRCA2 | c.4304del (p.Asn1435IlefsTer13) c.3935del (p.Asn1312IlefsTer13) n.4304del | ClinVar dbSNP gnomAD v4 |
13 | g.32338656A= | CA2082810351 | BRCA2 | c.4301A= (p.Lys1434=) c.3932A= (p.Lys1311=) n.4301A= | |
13 | g.32338656A>C | CA387780713 | BRCA2 | c.4301A>C (p.Lys1434Thr) c.3932A>C (p.Lys1311Thr) n.4301A>C | |
13 | g.32338656A>G | CA387780714 | BRCA2 | c.4301A>G (p.Lys1434Arg) c.3932A>G (p.Lys1311Arg) n.4301A>G | dbSNP |
13 | g.32338656A>T | CA019939 | BRCA2 | c.4301A>T (p.Lys1434Ile) c.3932A>T (p.Lys1311Ile) n.4301A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338657A>C | CA387780717 | BRCA2 | c.4302A>C (p.Lys1434Asn) c.3933A>C (p.Lys1311Asn) n.4302A>C | |
13 | g.32338657A>G | CA483438168 | BRCA2 | c.4302A>G (p.Lys1434=) c.3933A>G (p.Lys1311=) n.4302A>G | ClinVar dbSNP |
13 | g.32338657A>T | CA387780718 | BRCA2 | c.4302A>T (p.Lys1434Asn) c.3933A>T (p.Lys1311Asn) n.4302A>T | dbSNP |
13 | g.32338658A>C | CA387780719 | BRCA2 | c.4303A>C (p.Asn1435His) c.3934A>C (p.Asn1312His) n.4303A>C | |
13 | g.32338658A>G | CA387780721 | BRCA2 | c.4303A>G (p.Asn1435Asp) c.3934A>G (p.Asn1312Asp) n.4303A>G | |
13 | g.32338658A>T | CA387780730 | BRCA2 | c.4303A>T (p.Asn1435Tyr) c.3934A>T (p.Asn1312Tyr) n.4303A>T | |
13 | g.32338658_32338660delinsAAT | CA2082810360 | BRCA2 | c.4303_4305delinsAAT (p.Asn1435=) c.3934_3936delinsAAT (p.Asn1312=) n.4303_4305delinsAAT | |
13 | g.32338658_32338663delinsAATATT | CA2082810361 | BRCA2 | c.4303_4308delinsAATATT (p.Asn1435=) c.3934_3939delinsAATATT (p.Asn1312=) n.4303_4308delinsAATATT | |
13 | g.32338659A>C | CA387780741 | BRCA2 | c.4304A>C (p.Asn1435Thr) c.3935A>C (p.Asn1312Thr) n.4304A>C | COSMIC COSMIC |
13 | g.32338659A>G | CA387780736 | BRCA2 | c.4304A>G (p.Asn1435Ser) c.3935A>G (p.Asn1312Ser) n.4304A>G | dbSNP |
13 | g.32338659A>T | CA387780738 | BRCA2 | c.4304A>T (p.Asn1435Ile) c.3935A>T (p.Asn1312Ile) n.4304A>T | |
13 | g.32338659_32338660delinsAT | CA2082810388 | BRCA2 | c.4304_4305delinsAT (p.Asn1435=) c.3935_3936delinsAT (p.Asn1312=) n.4304_4305delinsAT | |
13 | g.32338659_32338662delinsATAT | CA2082810391 | BRCA2 | c.4304_4307delinsATAT (p.Asn1435=) c.3935_3938delinsATAT (p.Asn1312=) n.4304_4307delinsATAT | |
13 | g.32338661_32338662del | CA10589252 | BRCA2 | c.4306_4307del (p.Ile1436Ter) c.3937_3938del (p.Ile1313Ter) n.4306_4307del | ClinVar dbSNP gnomAD v4 |
13 | g.32338660_32338664del | CA913190946 | BRCA2 | c.4305_4309del (p.Asn1435LysfsTer8) c.3936_3940del (p.Asn1312LysfsTer8) n.4305_4309del | ClinVar dbSNP |
13 | g.32338660del | CA10589251 | BRCA2 | c.4305del (p.Asn1435LysfsTer13) c.3936del (p.Asn1312LysfsTer13) n.4305del | ClinVar dbSNP |
13 | g.32338660T>A | CA387780745 | BRCA2 | c.4305T>A (p.Asn1435Lys) c.3936T>A (p.Asn1312Lys) n.4305T>A | dbSNP |
13 | g.32338660T>C | CA483438172 | BRCA2 | c.4305T>C (p.Asn1435=) c.3936T>C (p.Asn1312=) n.4305T>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338660T>G | CA10583104 | BRCA2 | c.4305T>G (p.Asn1435Lys) c.3936T>G (p.Asn1312Lys) n.4305T>G | ClinVar dbSNP |
13 | g.32338660T= | CA2082810408 | BRCA2 | c.4305T= (p.Asn1435=) c.3936T= (p.Asn1312=) n.4305T= | |
13 | g.32338662_32338664del | CA916080548 | BRCA2 | c.4307_4309del (p.Ile1436del) c.3938_3940del (p.Ile1313del) n.4307_4309del | ClinVar dbSNP |
13 | g.32338661del | CA2739277586 | BRCA2 | c.4306del (p.Ile1436LeufsTer12) c.3937del (p.Ile1313LeufsTer12) n.4306del | ClinVar |
13 | g.32338661A= | CA2082810418 | BRCA2 | c.4306A= (p.Ile1436=) c.3937A= (p.Ile1313=) n.4306A= | |
13 | g.32338661A>C | CA387780749 | BRCA2 | c.4306A>C (p.Ile1436Leu) c.3937A>C (p.Ile1313Leu) n.4306A>C | |
13 | g.32338661A>G | CA6940768 | BRCA2 | c.4306A>G (p.Ile1436Val) c.3937A>G (p.Ile1313Val) n.4306A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338661A>T | CA387780748 | BRCA2 | c.4306A>T (p.Ile1436Phe) c.3937A>T (p.Ile1313Phe) n.4306A>T | |
13 | g.32338662T>A | CA387780756 | BRCA2 | c.4307T>A (p.Ile1436Asn) c.3938T>A (p.Ile1313Asn) n.4307T>A | dbSNP COSMIC COSMIC |
13 | g.32338662T>C | CA6940769 | BRCA2 | c.4307T>C (p.Ile1436Thr) c.3938T>C (p.Ile1313Thr) n.4307T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338662T>G | CA387780759 | BRCA2 | c.4307T>G (p.Ile1436Ser) c.3938T>G (p.Ile1313Ser) n.4307T>G | |
13 | g.32338662T= | CA2082810423 | BRCA2 | c.4307T= (p.Ile1436=) c.3938T= (p.Ile1313=) n.4307T= | |
13 | g.32338663T>A | CA483438178 | BRCA2 | c.4308T>A (p.Ile1436=) c.3939T>A (p.Ile1313=) n.4308T>A | ClinVar dbSNP |
13 | g.32338663T>C | CA483438176 | BRCA2 | c.4308T>C (p.Ile1436=) c.3939T>C (p.Ile1313=) n.4308T>C | |
13 | g.32338663T>G | CA387780762 | BRCA2 | c.4308T>G (p.Ile1436Met) c.3939T>G (p.Ile1313Met) n.4308T>G | |
13 | g.32338664A= | CA2082810431 | BRCA2 | c.4309A= (p.Ser1437=) c.3940A= (p.Ser1314=) n.4309A= | |
13 | g.32338664A>C | CA387780778 | BRCA2 | c.4309A>C (p.Ser1437Arg) c.3940A>C (p.Ser1314Arg) n.4309A>C | gnomAD v4 |
13 | g.32338664A>G | CA387780765 | BRCA2 | c.4309A>G (p.Ser1437Gly) c.3940A>G (p.Ser1314Gly) n.4309A>G | dbSNP gnomAD v4 |
13 | g.32338664A>T | CA387780774 | BRCA2 | c.4309A>T (p.Ser1437Cys) c.3940A>T (p.Ser1314Cys) n.4309A>T | ClinVar dbSNP |
13 | g.32338665G>A | CA387780780 | BRCA2 | c.4310G>A (p.Ser1437Asn) c.3941G>A (p.Ser1314Asn) n.4310G>A | ClinVar dbSNP |
13 | g.32338665G>C | CA387780781 | BRCA2 | c.4310G>C (p.Ser1437Thr) c.3941G>C (p.Ser1314Thr) n.4310G>C | ClinVar dbSNP |
13 | g.32338665G= | CA2082810444 | BRCA2 | c.4310G= (p.Ser1437=) c.3941G= (p.Ser1314=) n.4310G= | |
13 | g.32338665G>T | CA387780783 | BRCA2 | c.4310G>T (p.Ser1437Ile) c.3941G>T (p.Ser1314Ile) n.4310G>T | |
13 | g.32338667_32338668dup | CA16619705 | BRCA2 | c.4312_4313dup (p.Ala1439SerfsTer10) c.3943_3944dup (p.Ala1316SerfsTer10) n.4312_4313dup | ClinVar dbSNP |
13 | g.32338666T>A | CA387780785 | BRCA2 | c.4311T>A (p.Ser1437Arg) c.3942T>A (p.Ser1314Arg) n.4311T>A | dbSNP |
13 | g.32338666T>C | CA483438184 | BRCA2 | c.4311T>C (p.Ser1437=) c.3942T>C (p.Ser1314=) n.4311T>C | ClinVar dbSNP |
13 | g.32338666T>G | CA387780787 | BRCA2 | c.4311T>G (p.Ser1437Arg) c.3942T>G (p.Ser1314Arg) n.4311T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338666T= | CA2082810453 | BRCA2 | c.4311T= (p.Ser1437=) c.3942T= (p.Ser1314=) n.4311T= | |
13 | g.32338667G>A | CA019946 | BRCA2 | c.4312G>A (p.Val1438Ile) c.3943G>A (p.Val1315Ile) n.4312G>A | ClinVar dbSNP |
13 | g.32338667G>C | CA387780792 | BRCA2 | c.4312G>C (p.Val1438Leu) c.3943G>C (p.Val1315Leu) n.4312G>C | dbSNP |
13 | g.32338667G= | CA2082810472 | BRCA2 | c.4312G= (p.Val1438=) c.3943G= (p.Val1315=) n.4312G= | |
13 | g.32338667G>T | CA387780790 | BRCA2 | c.4312G>T (p.Val1438Phe) c.3943G>T (p.Val1315Phe) n.4312G>T | |
13 | g.32338668T>A | CA387780793 | BRCA2 | c.4313T>A (p.Val1438Asp) c.3944T>A (p.Val1315Asp) n.4313T>A | dbSNP |
13 | g.32338668T>C | CA387780795 | BRCA2 | c.4313T>C (p.Val1438Ala) c.3944T>C (p.Val1315Ala) n.4313T>C | ClinVar dbSNP |
13 | g.32338668T>G | CA387780796 | BRCA2 | c.4313T>G (p.Val1438Gly) c.3944T>G (p.Val1315Gly) n.4313T>G | |
13 | g.32338668_32338669delinsTC | CA2082810480 | BRCA2 | c.4313_4314delinsTC (p.Val1438=) c.3944_3945delinsTC (p.Val1315=) n.4313_4314delinsTC | |
13 | g.32338669del | CA019954 | BRCA2 | c.4314del (p.Ala1439ProfsTer9) c.3945del (p.Ala1316ProfsTer9) n.4314del | ClinVar dbSNP |
13 | g.32338669C>A | CA483438185 | BRCA2 | c.4314C>A (p.Val1438=) c.3945C>A (p.Val1315=) n.4314C>A | dbSNP gnomAD v4 |
13 | g.32338669C= | CA2082810496 | BRCA2 | c.4314C= (p.Val1438=) c.3945C= (p.Val1315=) n.4314C= | |
13 | g.32338669C>G | CA483438186 | BRCA2 | c.4314C>G (p.Val1438=) c.3945C>G (p.Val1315=) n.4314C>G | dbSNP |
13 | g.32338669C>T | CA019951 | BRCA2 | c.4314C>T (p.Val1438=) c.3945C>T (p.Val1315=) n.4314C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32338670G>A | CA019960 | BRCA2 | c.4315G>A (p.Ala1439Thr) c.3946G>A (p.Ala1316Thr) n.4315G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32338670G>C | CA387780800 | BRCA2 | c.4315G>C (p.Ala1439Pro) c.3946G>C (p.Ala1316Pro) n.4315G>C | |
13 | g.32338670G= | CA2082810517 | BRCA2 | c.4315G= (p.Ala1439=) c.3946G= (p.Ala1316=) n.4315G= | |
13 | g.32338670G>T | CA387780802 | BRCA2 | c.4315G>T (p.Ala1439Ser) c.3946G>T (p.Ala1316Ser) n.4315G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338671C>A | CA019966 | BRCA2 | c.4316C>A (p.Ala1439Asp) c.3947C>A (p.Ala1316Asp) n.4316C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338671C= | CA2082810534 | BRCA2 | c.4316C= (p.Ala1439=) c.3947C= (p.Ala1316=) n.4316C= | |
13 | g.32338671C>G | CA387780809 | BRCA2 | c.4316C>G (p.Ala1439Gly) c.3947C>G (p.Ala1316Gly) n.4316C>G | |
13 | g.32338671C>T | CA387780811 | BRCA2 | c.4316C>T (p.Ala1439Val) c.3947C>T (p.Ala1316Val) n.4316C>T | ClinVar dbSNP |
13 | g.32338671_32338682delinsCCAAAGAGTCAT | CA2082810533 | BRCA2 | c.4316_4327delinsCCAAAGAGTCAT (p.Ala1439=) c.3947_3958delinsCCAAAGAGTCAT (p.Ala1316=) n.4316_4327delinsCCAAAGAGTCAT | |
13 | g.32338672C>A | CA483438189 | BRCA2 | c.4317C>A (p.Ala1439=) c.3948C>A (p.Ala1316=) n.4317C>A | dbSNP gnomAD v4 |
13 | g.32338672C>G | CA483438191 | BRCA2 | c.4317C>G (p.Ala1439=) c.3948C>G (p.Ala1316=) n.4317C>G | dbSNP |
13 | g.32338672C>T | CA483438192 | BRCA2 | c.4317C>T (p.Ala1439=) c.3948C>T (p.Ala1316=) n.4317C>T | dbSNP COSMIC COSMIC |
13 | g.32338672_32338674delinsCAA | CA2082810551 | BRCA2 | c.4317_4319delinsCAA (p.Ala1439=) c.3948_3950delinsCAA (p.Ala1316=) n.4317_4319delinsCAA | |
13 | g.32338674_32338681del | CA2580087273 | BRCA2 | c.4319_4326del (p.Lys1440IlefsTer2) c.3950_3957del (p.Lys1317IlefsTer2) n.4319_4326del | ClinVar |
13 | g.32338672_32338682del | CA913188571 | BRCA2 | c.4317_4327del (p.Lys1440Ter) c.3948_3958del (p.Lys1317Ter) n.4317_4327del | ClinVar dbSNP |
13 | g.32338673A= | CA2082810576 | BRCA2 | c.4318A= (p.Lys1440=) c.3949A= (p.Lys1317=) n.4318A= | |
13 | g.32338673A>C | CA387780813 | BRCA2 | c.4318A>C (p.Lys1440Gln) c.3949A>C (p.Lys1317Gln) n.4318A>C | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338673A>G | CA019972 | BRCA2 | c.4318A>G (p.Lys1440Glu) c.3949A>G (p.Lys1317Glu) n.4318A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338673A>T | CA387780815 | BRCA2 | c.4318A>T (p.Lys1440Ter) c.3949A>T (p.Lys1317Ter) n.4318A>T | ClinVar dbSNP |
13 | g.32338675del | CA2695218199 | BRCA2 | c.4320del (p.Glu1441SerfsTer7) c.3951del (p.Glu1318SerfsTer7) n.4320del | |
13 | g.32338674_32338675del | CA019975 | BRCA2 | c.4319_4320del (p.Lys1440ArgfsTer4) c.3950_3951del (p.Lys1317ArgfsTer4) n.4319_4320del | ClinVar dbSNP |
13 | g.32338674A= | CA2082810592 | BRCA2 | c.4319A= (p.Lys1440=) c.3950A= (p.Lys1317=) n.4319A= | |
13 | g.32338674A>C | CA387780816 | BRCA2 | c.4319A>C (p.Lys1440Thr) c.3950A>C (p.Lys1317Thr) n.4319A>C | |
13 | g.32338674A>G | CA019980 | BRCA2 | c.4319A>G (p.Lys1440Arg) c.3950A>G (p.Lys1317Arg) n.4319A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338674A>T | CA387780817 | BRCA2 | c.4319A>T (p.Lys1440Ile) c.3950A>T (p.Lys1317Ile) n.4319A>T | dbSNP |
13 | g.32338674_32338676delinsAAG | CA2082810600 | BRCA2 | c.4319_4321delinsAAG (p.Lys1440=) c.3950_3952delinsAAG (p.Lys1317=) n.4319_4321delinsAAG | |
13 | g.32338675A= | CA2082810617 | BRCA2 | c.4320A= (p.Lys1440=) c.3951A= (p.Lys1317=) n.4320A= | |
13 | g.32338675A>C | CA6940771 | BRCA2 | c.4320A>C (p.Lys1440Asn) c.3951A>C (p.Lys1317Asn) n.4320A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338675A>G | CA6940770 | BRCA2 | c.4320A>G (p.Lys1440=) c.3951A>G (p.Lys1317=) n.4320A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338675A>T | CA387780819 | BRCA2 | c.4320A>T (p.Lys1440Asn) c.3951A>T (p.Lys1317Asn) n.4320A>T | |
13 | g.32338677_32338678del | CA915948461 | BRCA2 | c.4322_4323del (p.Glu1441ValfsTer3) c.3953_3954del (p.Glu1318ValfsTer3) n.4322_4323del | ClinVar dbSNP |
13 | g.32338676G>A | CA387780820 | BRCA2 | c.4321G>A (p.Glu1441Lys) c.3952G>A (p.Glu1318Lys) n.4321G>A | ClinVar dbSNP |
13 | g.32338676G>C | CA10579610 | BRCA2 | c.4321G>C (p.Glu1441Gln) c.3952G>C (p.Glu1318Gln) n.4321G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338676G= | CA2082810641 | BRCA2 | c.4321G= (p.Glu1441=) c.3952G= (p.Glu1318=) n.4321G= | |
13 | g.32338676G>T | CA387780821 | BRCA2 | c.4321G>T (p.Glu1441Ter) c.3952G>T (p.Glu1318Ter) n.4321G>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32338677A= | CA2082810665 | BRCA2 | c.4322A= (p.Glu1441=) c.3953A= (p.Glu1318=) n.4322A= | |
13 | g.32338677A>C | CA387780824 | BRCA2 | c.4322A>C (p.Glu1441Ala) c.3953A>C (p.Glu1318Ala) n.4322A>C | ClinVar dbSNP |
13 | g.32338677A>G | CA387780825 | BRCA2 | c.4322A>G (p.Glu1441Gly) c.3953A>G (p.Glu1318Gly) n.4322A>G | ClinVar dbSNP |
13 | g.32338677A>T | CA387780826 | BRCA2 | c.4322A>T (p.Glu1441Val) c.3953A>T (p.Glu1318Val) n.4322A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338678G>A | CA10579611 | BRCA2 | c.4323G>A (p.Glu1441=) c.3954G>A (p.Glu1318=) n.4323G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338678G>C | CA387780829 | BRCA2 | c.4323G>C (p.Glu1441Asp) c.3954G>C (p.Glu1318Asp) n.4323G>C | dbSNP |
13 | g.32338678G= | CA2082810677 | BRCA2 | c.4323G= (p.Glu1441=) c.3954G= (p.Glu1318=) n.4323G= | |
13 | g.32338678G>T | CA387780828 | BRCA2 | c.4323G>T (p.Glu1441Asp) c.3954G>T (p.Glu1318Asp) n.4323G>T | COSMIC COSMIC |
13 | g.32338679T>A | CA387780830 | BRCA2 | c.4324T>A (p.Ser1442Thr) c.3955T>A (p.Ser1319Thr) n.4324T>A | dbSNP |
13 | g.32338679T>C | CA387780831 | BRCA2 | c.4324T>C (p.Ser1442Pro) c.3955T>C (p.Ser1319Pro) n.4324T>C | dbSNP |
13 | g.32338679T>G | CA387780832 | BRCA2 | c.4324T>G (p.Ser1442Ala) c.3955T>G (p.Ser1319Ala) n.4324T>G | dbSNP gnomAD v4 |