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.32370503_32371631dup | CA2580087371 | BRCA2 | c.8433_8632+531dup c.8064_8263+531dup c.900_1099+531dup c.8441_8640+531dup c.998_1197+531dup c.8337_8536+531dup | ClinVar |
13 | g.32370978G>A | CA387752699 | BRCA2 | c.8510G>A (p.Gly2837Glu) c.8141G>A (p.Gly2714Glu) c.977G>A (p.Gly326Glu) c.8518G>A (n.8518G>A) c.1075G>A c.8G>A (p.Gly3Glu) c.8414G>A (p.Gly2805Glu) | dbSNP gnomAD v4 |
13 | g.32370978G>C | CA387752700 | BRCA2 | c.8510G>C (p.Gly2837Ala) c.8141G>C (p.Gly2714Ala) c.977G>C (p.Gly326Ala) c.8518G>C (n.8518G>C) c.1075G>C c.8G>C (p.Gly3Ala) c.8414G>C (p.Gly2805Ala) | dbSNP gnomAD v4 |
13 | g.32370978G= | CA2082815460 | BRCA2 | c.8510G= (p.Gly2837=) c.8141G= (p.Gly2714=) c.977G= (p.Gly326=) c.8518G= (n.8518G=) c.1075G= c.8G= (p.Gly3=) c.8414G= (p.Gly2805=) | |
13 | g.32370978G>T | CA025687 | BRCA2 | c.8510G>T (p.Gly2837Val) c.8141G>T (p.Gly2714Val) c.977G>T (p.Gly326Val) c.8518G>T (n.8518G>T) c.1075G>T c.8G>T (p.Gly3Val) c.8414G>T (p.Gly2805Val) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32370979A>C | CA483261501 | BRCA2 | c.8511A>C (p.Gly2837=) c.8142A>C (p.Gly2714=) c.978A>C (p.Gly326=) c.8519A>C (n.8519A>C) c.1076A>C c.9A>C (p.Gly3=) c.8415A>C (p.Gly2805=) | |
13 | g.32370979A>G | CA483261502 | BRCA2 | c.8511A>G (p.Gly2837=) c.8142A>G (p.Gly2714=) c.978A>G (p.Gly326=) c.8519A>G (n.8519A>G) c.1076A>G c.9A>G (p.Gly3=) c.8415A>G (p.Gly2805=) | ClinVar dbSNP |
13 | g.32370979A>T | CA483261503 | BRCA2 | c.8511A>T (p.Gly2837=) c.8142A>T (p.Gly2714=) c.978A>T (p.Gly326=) c.8519A>T (n.8519A>T) c.1076A>T c.9A>T (p.Gly3=) c.8415A>T (p.Gly2805=) | |
13 | g.32370980T>A | CA387752701 | BRCA2 | c.8512T>A (p.Leu2838Ile) c.8143T>A (p.Leu2715Ile) c.979T>A (p.Leu327Ile) c.8520T>A (n.8520T>A) c.1077T>A c.10T>A (p.Leu4Ile) c.8416T>A (p.Leu2806Ile) | dbSNP |
13 | g.32370980T>C | CA483261504 | BRCA2 | c.8512T>C (p.Leu2838=) c.8143T>C (p.Leu2715=) c.979T>C (p.Leu327=) c.8520T>C (n.8520T>C) c.1077T>C c.10T>C (p.Leu4=) c.8416T>C (p.Leu2806=) | |
13 | g.32370980T>G | CA387752702 | BRCA2 | c.8512T>G (p.Leu2838Val) c.8143T>G (p.Leu2715Val) c.979T>G (p.Leu327Val) c.8520T>G (n.8520T>G) c.1077T>G c.10T>G (p.Leu4Val) c.8416T>G (p.Leu2806Val) | |
13 | g.32370981del | CA2727920447 | BRCA2 | c.8513del (p.Leu2838TyrfsTer25) c.8144del (p.Leu2715TyrfsTer25) c.980del (p.Leu327TyrfsTer25) c.8521del (n.8521del) c.1078del c.11del (p.Leu4TyrfsTer25) c.8417del (p.Leu2806TyrfsTer25) | dbSNP |
13 | g.32370980_32370982delinsTTA | CA2082815465 | BRCA2 | c.8512_8514delinsTTA (p.Leu2838=) c.8143_8145delinsTTA (p.Leu2715=) c.979_981delinsTTA (p.Leu327=) c.8520_8522delinsTTA (n.8520_8522delinsTTA) c.1077_1079delinsTTA c.10_12delinsTTA (p.Leu4=) c.8416_8418delinsTTA (p.Leu2806=) | |
13 | g.32370981T>A | CA10589502 | BRCA2 | c.8513T>A (p.Leu2838Ter) c.8144T>A (p.Leu2715Ter) c.980T>A (p.Leu327Ter) c.8521T>A (n.8521T>A) c.1078T>A c.11T>A (p.Leu4Ter) c.8417T>A (p.Leu2806Ter) | ClinVar dbSNP |
13 | g.32370981T>C | CA387752703 | BRCA2 | c.8513T>C (p.Leu2838Ser) c.8144T>C (p.Leu2715Ser) c.980T>C (p.Leu327Ser) c.8521T>C (n.8521T>C) c.1078T>C c.11T>C (p.Leu4Ser) c.8417T>C (p.Leu2806Ser) | |
13 | g.32370981T>G | CA10589503 | BRCA2 | c.8513T>G (p.Leu2838Ter) c.8144T>G (p.Leu2715Ter) c.980T>G (p.Leu327Ter) c.8521T>G (n.8521T>G) c.1078T>G c.11T>G (p.Leu4Ter) c.8417T>G (p.Leu2806Ter) | ClinVar dbSNP |
13 | g.32370981T= | CA2082815473 | BRCA2 | c.8513T= (p.Leu2838=) c.8144T= (p.Leu2715=) c.980T= (p.Leu327=) c.8521T= (n.8521T=) c.1078T= c.11T= (p.Leu4=) c.8417T= (p.Leu2806=) | |
13 | g.32370983_32370984del | CA891843899 | BRCA2 | c.8515_8516del (p.Tyr2839HisfsTer5) c.8146_8147del (p.Tyr2716HisfsTer5) c.982_983del (p.Tyr328HisfsTer5) c.8523_8524del (n.8523_8524del) c.1080_1081del c.13_14del (p.Tyr5HisfsTer5) c.8419_8420del (p.Tyr2807HisfsTer5) | ClinVar dbSNP |
13 | g.32370982A= | CA2082815482 | BRCA2 | c.8514A= (p.Leu2838=) c.8145A= (p.Leu2715=) c.981A= (p.Leu327=) c.8522A= (n.8522A=) c.1079A= c.12A= (p.Leu4=) c.8418A= (p.Leu2806=) | |
13 | g.32370982A>C | CA387752704 | BRCA2 | c.8514A>C (p.Leu2838Phe) c.8145A>C (p.Leu2715Phe) c.981A>C (p.Leu327Phe) c.8522A>C (n.8522A>C) c.1079A>C c.12A>C (p.Leu4Phe) c.8418A>C (p.Leu2806Phe) | |
13 | g.32370982A>G | CA6941255 | BRCA2 | c.8514A>G (p.Leu2838=) c.8145A>G (p.Leu2715=) c.981A>G (p.Leu327=) c.8522A>G (n.8522A>G) c.1079A>G c.12A>G (p.Leu4=) c.8418A>G (p.Leu2806=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370982A>T | CA387752705 | BRCA2 | c.8514A>T (p.Leu2838Phe) c.8145A>T (p.Leu2715Phe) c.981A>T (p.Leu327Phe) c.8522A>T (n.8522A>T) c.1079A>T c.12A>T (p.Leu4Phe) c.8418A>T (p.Leu2806Phe) | |
13 | g.32370983T>A | CA387752706 | BRCA2 | c.8515T>A (p.Tyr2839Asn) c.8146T>A (p.Tyr2716Asn) c.982T>A (p.Tyr328Asn) c.8523T>A (n.8523T>A) c.1080T>A c.13T>A (p.Tyr5Asn) c.8419T>A (p.Tyr2807Asn) | |
13 | g.32370983T>C | CA025688 | BRCA2 | c.8515T>C (p.Tyr2839His) c.8146T>C (p.Tyr2716His) c.982T>C (p.Tyr328His) c.8523T>C (n.8523T>C) c.1080T>C c.13T>C (p.Tyr5His) c.8419T>C (p.Tyr2807His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370983T>G | CA387752707 | BRCA2 | c.8515T>G (p.Tyr2839Asp) c.8146T>G (p.Tyr2716Asp) c.982T>G (p.Tyr328Asp) c.8523T>G (n.8523T>G) c.1080T>G c.13T>G (p.Tyr5Asp) c.8419T>G (p.Tyr2807Asp) | |
13 | g.32370983T= | CA2082815501 | BRCA2 | c.8515T= (p.Tyr2839=) c.8146T= (p.Tyr2716=) c.982T= (p.Tyr328=) c.8523T= (n.8523T=) c.1080T= c.13T= (p.Tyr5=) c.8419T= (p.Tyr2807=) | |
13 | g.32370984A= | CA2082815505 | BRCA2 | c.8516A= (p.Tyr2839=) c.8147A= (p.Tyr2716=) c.983A= (p.Tyr328=) c.8524A= (n.8524A=) c.1081A= c.14A= (p.Tyr5=) c.8420A= (p.Tyr2807=) | |
13 | g.32370984A>C | CA387752708 | BRCA2 | c.8516A>C (p.Tyr2839Ser) c.8147A>C (p.Tyr2716Ser) c.983A>C (p.Tyr328Ser) c.8524A>C (n.8524A>C) c.1081A>C c.14A>C (p.Tyr5Ser) c.8420A>C (p.Tyr2807Ser) | |
13 | g.32370984A>G | CA025689 | BRCA2 | c.8516A>G (p.Tyr2839Cys) c.8147A>G (p.Tyr2716Cys) c.983A>G (p.Tyr328Cys) c.8524A>G (n.8524A>G) c.1081A>G c.14A>G (p.Tyr5Cys) c.8420A>G (p.Tyr2807Cys) | ClinVar dbSNP |
13 | g.32370984A>T | CA387752709 | BRCA2 | c.8516A>T (p.Tyr2839Phe) c.8147A>T (p.Tyr2716Phe) c.983A>T (p.Tyr328Phe) c.8524A>T (n.8524A>T) c.1081A>T c.14A>T (p.Tyr5Phe) c.8420A>T (p.Tyr2807Phe) | dbSNP |
13 | g.32370985C>A | CA10589504 | BRCA2 | c.8517C>A (p.Tyr2839Ter) c.8148C>A (p.Tyr2716Ter) c.984C>A (p.Tyr328Ter) c.8525C>A (n.8525C>A) c.1082C>A c.15C>A (p.Tyr5Ter) c.8421C>A (p.Tyr2807Ter) | ClinVar dbSNP |
13 | g.32370985C= | CA2082815514 | BRCA2 | c.8517C= (p.Tyr2839=) c.8148C= (p.Tyr2716=) c.984C= (p.Tyr328=) c.8525C= (n.8525C=) c.1082C= c.15C= (p.Tyr5=) c.8421C= (p.Tyr2807=) | |
13 | g.32370985C>G | CA387752710 | BRCA2 | c.8517C>G (p.Tyr2839Ter) c.8148C>G (p.Tyr2716Ter) c.984C>G (p.Tyr328Ter) c.8525C>G (n.8525C>G) c.1082C>G c.15C>G (p.Tyr5Ter) c.8421C>G (p.Tyr2807Ter) | ClinVar dbSNP |
13 | g.32370985C>T | CA337412 | BRCA2 | c.8517C>T (p.Tyr2839=) c.8148C>T (p.Tyr2716=) c.984C>T (p.Tyr328=) c.8525C>T (n.8525C>T) c.1082C>T c.15C>T (p.Tyr5=) c.8421C>T (p.Tyr2807=) | ClinVar dbSNP |
13 | g.32370985_32370986delinsCA | CA2082815520 | BRCA2 | c.8517_8518delinsCA (p.Tyr2839=) c.8148_8149delinsCA (p.Tyr2716=) c.984_985delinsCA (p.Tyr328=) c.8525_8526delinsCA (n.8525_8526delinsCA) c.1082_1083delinsCA c.15_16delinsCA (p.Tyr5=) c.8421_8422delinsCA (p.Tyr2807=) | |
13 | g.32370986del | CA10589505 | BRCA2 | c.8518del (p.Ile2840TyrfsTer23) c.8149del (p.Ile2717TyrfsTer23) c.985del (p.Ile329TyrfsTer23) c.8526del (n.8526del) c.1083del c.16del (p.Ile6TyrfsTer23) c.8422del (p.Ile2808TyrfsTer23) | ClinVar dbSNP |
13 | g.32370986A= | CA2082815528 | BRCA2 | c.8518A= (p.Ile2840=) c.8149A= (p.Ile2717=) c.985A= (p.Ile329=) c.8526A= (n.8526A=) c.1083A= c.16A= (p.Ile6=) c.8422A= (p.Ile2808=) | |
13 | g.32370986A>C | CA387752711 | BRCA2 | c.8518A>C (p.Ile2840Leu) c.8149A>C (p.Ile2717Leu) c.985A>C (p.Ile329Leu) c.8526A>C (n.8526A>C) c.1083A>C c.16A>C (p.Ile6Leu) c.8422A>C (p.Ile2808Leu) | |
13 | g.32370986A>G | CA025690 | BRCA2 | c.8518A>G (p.Ile2840Val) c.8149A>G (p.Ile2717Val) c.985A>G (p.Ile329Val) c.8526A>G (n.8526A>G) c.1083A>G c.16A>G (p.Ile6Val) c.8422A>G (p.Ile2808Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370986A>T | CA387752712 | BRCA2 | c.8518A>T (p.Ile2840Leu) c.8149A>T (p.Ile2717Leu) c.985A>T (p.Ile329Leu) c.8526A>T (n.8526A>T) c.1083A>T c.16A>T (p.Ile6Leu) c.8422A>T (p.Ile2808Leu) | |
13 | g.32370987T>A | CA387752713 | BRCA2 | c.8519T>A (p.Ile2840Lys) c.8150T>A (p.Ile2717Lys) c.986T>A (p.Ile329Lys) c.8527T>A (n.8527T>A) c.1084T>A c.17T>A (p.Ile6Lys) c.8423T>A (p.Ile2808Lys) | dbSNP |
13 | g.32370987T>C | CA387752714 | BRCA2 | c.8519T>C (p.Ile2840Thr) c.8150T>C (p.Ile2717Thr) c.986T>C (p.Ile329Thr) c.8527T>C (n.8527T>C) c.1084T>C c.17T>C (p.Ile6Thr) c.8423T>C (p.Ile2808Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32370987T>G | CA387752715 | BRCA2 | c.8519T>G (p.Ile2840Arg) c.8150T>G (p.Ile2717Arg) c.986T>G (p.Ile329Arg) c.8527T>G (n.8527T>G) c.1084T>G c.17T>G (p.Ile6Arg) c.8423T>G (p.Ile2808Arg) | |
13 | g.32370987T= | CA2082815535 | BRCA2 | c.8519T= (p.Ile2840=) c.8150T= (p.Ile2717=) c.986T= (p.Ile329=) c.8527T= (n.8527T=) c.1084T= c.17T= (p.Ile6=) c.8423T= (p.Ile2808=) | |
13 | g.32370988A= | CA2082815543 | BRCA2 | c.8520A= (p.Ile2840=) c.8151A= (p.Ile2717=) c.987A= (p.Ile329=) c.8528A= (n.8528A=) c.1085A= c.18A= (p.Ile6=) c.8424A= (p.Ile2808=) | |
13 | g.32370988A>C | CA6941256 | BRCA2 | c.8520A>C (p.Ile2840=) c.8151A>C (p.Ile2717=) c.987A>C (p.Ile329=) c.8528A>C (n.8528A>C) c.1085A>C c.18A>C (p.Ile6=) c.8424A>C (p.Ile2808=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370988A>G | CA387752716 | BRCA2 | c.8520A>G (p.Ile2840Met) c.8151A>G (p.Ile2717Met) c.987A>G (p.Ile329Met) c.8528A>G (n.8528A>G) c.1085A>G c.18A>G (p.Ile6Met) c.8424A>G (p.Ile2808Met) | dbSNP |
13 | g.32370988A>T | CA483261505 | BRCA2 | c.8520A>T (p.Ile2840=) c.8151A>T (p.Ile2717=) c.987A>T (p.Ile329=) c.8528A>T (n.8528A>T) c.1085A>T c.18A>T (p.Ile6=) c.8424A>T (p.Ile2808=) | dbSNP |
13 | g.32370989T>A | CA387752717 | BRCA2 | c.8521T>A (p.Phe2841Ile) c.8152T>A (p.Phe2718Ile) c.988T>A (p.Phe330Ile) c.8529T>A (n.8529T>A) c.1086T>A c.19T>A (p.Phe7Ile) c.8425T>A (p.Phe2809Ile) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32370989T>C | CA387752718 | BRCA2 | c.8521T>C (p.Phe2841Leu) c.8152T>C (p.Phe2718Leu) c.988T>C (p.Phe330Leu) c.8529T>C (n.8529T>C) c.1086T>C c.19T>C (p.Phe7Leu) c.8425T>C (p.Phe2809Leu) | ClinVar |
13 | g.32370989T>G | CA387752719 | BRCA2 | c.8521T>G (p.Phe2841Val) c.8152T>G (p.Phe2718Val) c.988T>G (p.Phe330Val) c.8529T>G (n.8529T>G) c.1086T>G c.19T>G (p.Phe7Val) c.8425T>G (p.Phe2809Val) | |
13 | g.32370991del | CA2499222335 | BRCA2 | c.8523del (p.Arg2842AlafsTer21) c.8154del (p.Arg2719AlafsTer21) c.990del (p.Arg331AlafsTer21) c.8531del (n.8531del) c.1088del c.21del (p.Arg8AlafsTer21) c.8427del (p.Arg2810AlafsTer21) | ClinVar dbSNP |
13 | g.32370990T>A | CA387752720 | BRCA2 | c.8522T>A (p.Phe2841Tyr) c.8153T>A (p.Phe2718Tyr) c.989T>A (p.Phe330Tyr) c.8530T>A (n.8530T>A) c.1087T>A c.20T>A (p.Phe7Tyr) c.8426T>A (p.Phe2809Tyr) | dbSNP |
13 | g.32370990T>C | CA387752721 | BRCA2 | c.8522T>C (p.Phe2841Ser) c.8153T>C (p.Phe2718Ser) c.989T>C (p.Phe330Ser) c.8530T>C (n.8530T>C) c.1087T>C c.20T>C (p.Phe7Ser) c.8426T>C (p.Phe2809Ser) | dbSNP |
13 | g.32370990T>G | CA387752722 | BRCA2 | c.8522T>G (p.Phe2841Cys) c.8153T>G (p.Phe2718Cys) c.989T>G (p.Phe330Cys) c.8530T>G (n.8530T>G) c.1087T>G c.20T>G (p.Phe7Cys) c.8426T>G (p.Phe2809Cys) | |
13 | g.32370991T>A | CA387752724 | BRCA2 | c.8523T>A (p.Phe2841Leu) c.8154T>A (p.Phe2718Leu) c.990T>A (p.Phe330Leu) c.8531T>A (n.8531T>A) c.1088T>A c.21T>A (p.Phe7Leu) c.8427T>A (p.Phe2809Leu) | dbSNP |
13 | g.32370991T>C | CA483261506 | BRCA2 | c.8523T>C (p.Phe2841=) c.8154T>C (p.Phe2718=) c.990T>C (p.Phe330=) c.8531T>C (n.8531T>C) c.1088T>C c.21T>C (p.Phe7=) c.8427T>C (p.Phe2809=) | |
13 | g.32370991T>G | CA387752723 | BRCA2 | c.8523T>G (p.Phe2841Leu) c.8154T>G (p.Phe2718Leu) c.990T>G (p.Phe330Leu) c.8531T>G (n.8531T>G) c.1088T>G c.21T>G (p.Phe7Leu) c.8427T>G (p.Phe2809Leu) | gnomAD v4 |
13 | g.32370992C>A | CA387752725 | BRCA2 | c.8524C>A (p.Arg2842Ser) c.8155C>A (p.Arg2719Ser) c.991C>A (p.Arg331Ser) c.8532C>A (n.8532C>A) c.1089C>A c.22C>A (p.Arg8Ser) c.8428C>A (p.Arg2810Ser) | ClinVar dbSNP |
13 | g.32370992C= | CA2082815559 | BRCA2 | c.8524C= (p.Arg2842=) c.8155C= (p.Arg2719=) c.991C= (p.Arg331=) c.8532C= (n.8532C=) c.1089C= c.22C= (p.Arg8=) c.8428C= (p.Arg2810=) | |
13 | g.32370992C>G | CA387752726 | BRCA2 | c.8524C>G (p.Arg2842Gly) c.8155C>G (p.Arg2719Gly) c.991C>G (p.Arg331Gly) c.8532C>G (n.8532C>G) c.1089C>G c.22C>G (p.Arg8Gly) c.8428C>G (p.Arg2810Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32370992C>T | CA025691 | BRCA2 | c.8524C>T (p.Arg2842Cys) c.8155C>T (p.Arg2719Cys) c.991C>T (p.Arg331Cys) c.8532C>T (n.8532C>T) c.1089C>T c.22C>T (p.Arg8Cys) c.8428C>T (p.Arg2810Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370993G>A | CA025692 | BRCA2 | c.8525G>A (p.Arg2842His) c.8156G>A (p.Arg2719His) c.992G>A (p.Arg331His) c.8533G>A (n.8533G>A) c.1090G>A c.23G>A (p.Arg8His) c.8429G>A (p.Arg2810His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370993G>C | CA387752727 | BRCA2 | c.8525G>C (p.Arg2842Pro) c.8156G>C (p.Arg2719Pro) c.992G>C (p.Arg331Pro) c.8533G>C (n.8533G>C) c.1090G>C c.23G>C (p.Arg8Pro) c.8429G>C (p.Arg2810Pro) | dbSNP gnomAD v4 |
13 | g.32370993G= | CA2082815570 | BRCA2 | c.8525G= (p.Arg2842=) c.8156G= (p.Arg2719=) c.992G= (p.Arg331=) c.8533G= (n.8533G=) c.1090G= c.23G= (p.Arg8=) c.8429G= (p.Arg2810=) | |
13 | g.32370993G>T | CA025693 | BRCA2 | c.8525G>T (p.Arg2842Leu) c.8156G>T (p.Arg2719Leu) c.992G>T (p.Arg331Leu) c.8533G>T (n.8533G>T) c.1090G>T c.23G>T (p.Arg8Leu) c.8429G>T (p.Arg2810Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370994C>A | CA483261509 | BRCA2 | c.8526C>A (p.Arg2842=) c.8157C>A (p.Arg2719=) c.993C>A (p.Arg331=) c.8534C>A (n.8534C>A) c.1091C>A c.24C>A (p.Arg8=) c.8430C>A (p.Arg2810=) | |
13 | g.32370994C= | CA2082815578 | BRCA2 | c.8526C= (p.Arg2842=) c.8157C= (p.Arg2719=) c.993C= (p.Arg331=) c.8534C= (n.8534C=) c.1091C= c.24C= (p.Arg8=) c.8430C= (p.Arg2810=) | |
13 | g.32370994C>G | CA483261508 | BRCA2 | c.8526C>G (p.Arg2842=) c.8157C>G (p.Arg2719=) c.993C>G (p.Arg331=) c.8534C>G (n.8534C>G) c.1091C>G c.24C>G (p.Arg8=) c.8430C>G (p.Arg2810=) | |
13 | g.32370994C>T | CA483261507 | BRCA2 | c.8526C>T (p.Arg2842=) c.8157C>T (p.Arg2719=) c.993C>T (p.Arg331=) c.8534C>T (n.8534C>T) c.1091C>T c.24C>T (p.Arg8=) c.8430C>T (p.Arg2810=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370994_32370995delinsCA | CA2082815577 | BRCA2 | c.8526_8527delinsCA (p.Arg2842=) c.8157_8158delinsCA (p.Arg2719=) c.993_994delinsCA (p.Arg331=) c.8534_8535delinsCA (n.8534_8535delinsCA) c.1091_1092delinsCA c.24_25delinsCA (p.Arg8=) c.8430_8431delinsCA (p.Arg2810=) | |
13 | g.32370995A= | CA2082815588 | BRCA2 | c.8527A= (p.Asn2843=) c.8158A= (p.Asn2720=) c.994A= (p.Asn332=) c.8535A= (n.8535A=) c.1092A= c.25A= (p.Asn9=) c.8431A= (p.Asn2811=) | |
13 | g.32370995A>C | CA387752728 | BRCA2 | c.8527A>C (p.Asn2843His) c.8158A>C (p.Asn2720His) c.994A>C (p.Asn332His) c.8535A>C (n.8535A>C) c.1092A>C c.25A>C (p.Asn9His) c.8431A>C (p.Asn2811His) | ClinVar dbSNP gnomAD v4 |
13 | g.32370995A>G | CA10579792 | BRCA2 | c.8527A>G (p.Asn2843Asp) c.8158A>G (p.Asn2720Asp) c.994A>G (p.Asn332Asp) c.8535A>G (n.8535A>G) c.1092A>G c.25A>G (p.Asn9Asp) c.8431A>G (p.Asn2811Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370995A>T | CA387752729 | BRCA2 | c.8527A>T (p.Asn2843Tyr) c.8158A>T (p.Asn2720Tyr) c.994A>T (p.Asn332Tyr) c.8535A>T (n.8535A>T) c.1092A>T c.25A>T (p.Asn9Tyr) c.8431A>T (p.Asn2811Tyr) | |
13 | g.32370996del | CA025695 | BRCA2 | c.8528del (p.Asn2843MetfsTer20) c.8159del (p.Asn2720MetfsTer20) c.995del (p.Asn332MetfsTer20) c.8536del (n.8536del) c.1093del c.26del (p.Asn9MetfsTer20) c.8432del (p.Asn2811MetfsTer20) | ClinVar dbSNP |
13 | g.32370996A= | CA2082815601 | BRCA2 | c.8528A= (p.Asn2843=) c.8159A= (p.Asn2720=) c.995A= (p.Asn332=) c.8536A= (n.8536A=) c.1093A= c.26A= (p.Asn9=) c.8432A= (p.Asn2811=) | |
13 | g.32370996A>C | CA387752730 | BRCA2 | c.8528A>C (p.Asn2843Thr) c.8159A>C (p.Asn2720Thr) c.995A>C (p.Asn332Thr) c.8536A>C (n.8536A>C) c.1093A>C c.26A>C (p.Asn9Thr) c.8432A>C (p.Asn2811Thr) | |
13 | g.32370996A>G | CA025694 | BRCA2 | c.8528A>G (p.Asn2843Ser) c.8159A>G (p.Asn2720Ser) c.995A>G (p.Asn332Ser) c.8536A>G (n.8536A>G) c.1093A>G c.26A>G (p.Asn9Ser) c.8432A>G (p.Asn2811Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370996A>T | CA387752731 | BRCA2 | c.8528A>T (p.Asn2843Ile) c.8159A>T (p.Asn2720Ile) c.995A>T (p.Asn332Ile) c.8536A>T (n.8536A>T) c.1093A>T c.26A>T (p.Asn9Ile) c.8432A>T (p.Asn2811Ile) | dbSNP |
13 | g.32370997T>A | CA387752733 | BRCA2 | c.8529T>A (p.Asn2843Lys) c.8160T>A (p.Asn2720Lys) c.996T>A (p.Asn332Lys) c.8537T>A (n.8537T>A) c.1094T>A c.27T>A (p.Asn9Lys) c.8433T>A (p.Asn2811Lys) | dbSNP |
13 | g.32370997T>C | CA483261510 | BRCA2 | c.8529T>C (p.Asn2843=) c.8160T>C (p.Asn2720=) c.996T>C (p.Asn332=) c.8537T>C (n.8537T>C) c.1094T>C c.27T>C (p.Asn9=) c.8433T>C (p.Asn2811=) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32370997T>G | CA387752732 | BRCA2 | c.8529T>G (p.Asn2843Lys) c.8160T>G (p.Asn2720Lys) c.996T>G (p.Asn332Lys) c.8537T>G (n.8537T>G) c.1094T>G c.27T>G (p.Asn9Lys) c.8433T>G (p.Asn2811Lys) | |
13 | g.32370997T= | CA2082815606 | BRCA2 | c.8529T= (p.Asn2843=) c.8160T= (p.Asn2720=) c.996T= (p.Asn332=) c.8537T= (n.8537T=) c.1094T= c.27T= (p.Asn9=) c.8433T= (p.Asn2811=) | |
13 | g.32370998G>A | CA6941257 | BRCA2 | c.8530G>A (p.Glu2844Lys) c.8161G>A (p.Glu2721Lys) c.997G>A (p.Glu333Lys) c.8538G>A (n.8538G>A) c.1095G>A c.28G>A (p.Glu10Lys) c.8434G>A (p.Glu2812Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370998G>C | CA387752735 | BRCA2 | c.8530G>C (p.Glu2844Gln) c.8161G>C (p.Glu2721Gln) c.997G>C (p.Glu333Gln) c.8538G>C (n.8538G>C) c.1095G>C c.28G>C (p.Glu10Gln) c.8434G>C (p.Glu2812Gln) | |
13 | g.32370998G= | CA2082815616 | BRCA2 | c.8530G= (p.Glu2844=) c.8161G= (p.Glu2721=) c.997G= (p.Glu333=) c.8538G= (n.8538G=) c.1095G= c.28G= (p.Glu10=) c.8434G= (p.Glu2812=) | |
13 | g.32370998G>T | CA387752734 | BRCA2 | c.8530G>T (p.Glu2844Ter) c.8161G>T (p.Glu2721Ter) c.997G>T (p.Glu333Ter) c.8538G>T (n.8538G>T) c.1095G>T c.28G>T (p.Glu10Ter) c.8434G>T (p.Glu2812Ter) | |
13 | g.32370998_32371000delinsGAA | CA2082815615 | BRCA2 | c.8530_8532delinsGAA (p.Glu2844=) c.8161_8163delinsGAA (p.Glu2721=) c.997_999delinsGAA (p.Glu333=) c.8538_8540delinsGAA (n.8538_8540delinsGAA) c.1095_1097delinsGAA c.28_30delinsGAA (p.Glu10=) c.8434_8436delinsGAA (p.Glu2812=) | |
13 | g.32370999A= | CA2082815637 | BRCA2 | c.8531A= (p.Glu2844=) c.8162A= (p.Glu2721=) c.998A= (p.Glu333=) c.8539A= (n.8539A=) c.1096A= c.29A= (p.Glu10=) c.8435A= (p.Glu2812=) | |
13 | g.32370999A>C | CA387752736 | BRCA2 | c.8531A>C (p.Glu2844Ala) c.8162A>C (p.Glu2721Ala) c.998A>C (p.Glu333Ala) c.8539A>C (n.8539A>C) c.1096A>C c.29A>C (p.Glu10Ala) c.8435A>C (p.Glu2812Ala) | ClinVar dbSNP |
13 | g.32370999A>G | CA247484126 | BRCA2 | c.8531A>G (p.Glu2844Gly) c.8162A>G (p.Glu2721Gly) c.998A>G (p.Glu333Gly) c.8539A>G (n.8539A>G) c.1096A>G c.29A>G (p.Glu10Gly) c.8435A>G (p.Glu2812Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370999A>T | CA387752737 | BRCA2 | c.8531A>T (p.Glu2844Val) c.8162A>T (p.Glu2721Val) c.998A>T (p.Glu333Val) c.8539A>T (n.8539A>T) c.1096A>T c.29A>T (p.Glu10Val) c.8435A>T (p.Glu2812Val) | |
13 | g.32371001dup | CA645509336 | BRCA2 | c.8533dup (p.Arg2845LysfsTer24) c.8164dup (p.Arg2722LysfsTer24) c.1000dup (p.Arg334LysfsTer24) c.8541dup (n.8541dup) c.1098dup c.31dup (p.Arg11LysfsTer24) c.8437dup (p.Arg2813LysfsTer24) | ClinVar dbSNP |
13 | g.32371001del | CA2695199703 | BRCA2 | c.8533del (p.Arg2845GlufsTer18) c.8164del (p.Arg2722GlufsTer18) c.1000del (p.Arg334GlufsTer18) c.8541del (n.8541del) c.1098del c.31del (p.Arg11GlufsTer18) c.8437del (p.Arg2813GlufsTer18) | ClinVar |
13 | g.32371000_32371001del | CA025696 | BRCA2 | c.8532_8533del (p.Glu2846GlyfsTer22) c.8163_8164del (p.Glu2723GlyfsTer22) c.999_1000del (p.Glu335GlyfsTer22) c.8540_8541del (n.8540_8541del) c.1097_1098del c.30_31del (p.Glu12GlyfsTer22) c.8436_8437del (p.Glu2814GlyfsTer22) | ClinVar dbSNP gnomAD v4 |
13 | g.32371000_32371014del | CA2697551753 | BRCA2 | c.8532_8546del (p.Arg2845_Lys2849del) c.8163_8177del (p.Arg2722_Lys2726del) c.999_1013del (p.Arg334_Lys338del) c.8540_8554del (n.8540_8554del) c.1097_1111del c.30_44del (p.Arg11_Lys15del) c.8436_8450del (p.Arg2813_Lys2817del) | ClinVar |
13 | g.32371000A>C | CA387752738 | BRCA2 | c.8532A>C (p.Glu2844Asp) c.8163A>C (p.Glu2721Asp) c.999A>C (p.Glu333Asp) c.8540A>C (n.8540A>C) c.1097A>C c.30A>C (p.Glu10Asp) c.8436A>C (p.Glu2812Asp) | |
13 | g.32371000A>G | CA483261511 | BRCA2 | c.8532A>G (p.Glu2844=) c.8163A>G (p.Glu2721=) c.999A>G (p.Glu333=) c.8540A>G (n.8540A>G) c.1097A>G c.30A>G (p.Glu10=) c.8436A>G (p.Glu2812=) | gnomAD v4 |
13 | g.32371000A>T | CA387752739 | BRCA2 | c.8532A>T (p.Glu2844Asp) c.8163A>T (p.Glu2721Asp) c.999A>T (p.Glu333Asp) c.8540A>T (n.8540A>T) c.1097A>T c.30A>T (p.Glu10Asp) c.8436A>T (p.Glu2812Asp) | |
13 | g.32371000_32371004delinsAAGAG | CA2082815646 | BRCA2 | c.8532_8536delinsAAGAG (p.Glu2844=) c.8163_8167delinsAAGAG (p.Glu2721=) c.999_1003delinsAAGAG (p.Glu333=) c.8540_8544delinsAAGAG (n.8540_8544delinsAAGAG) c.1097_1101delinsAAGAG c.30_34delinsAAGAG (p.Glu10=) c.8436_8440delinsAAGAG (p.Glu2812=) | |
13 | g.32371001A>C | CA483261512 | BRCA2 | c.8533A>C (p.Arg2845=) c.8164A>C (p.Arg2722=) c.1000A>C (p.Arg334=) c.8541A>C (n.8541A>C) c.1098A>C c.31A>C (p.Arg11=) c.8437A>C (p.Arg2813=) | |
13 | g.32371001A>G | CA387752740 | BRCA2 | c.8533A>G (p.Arg2845Gly) c.8164A>G (p.Arg2722Gly) c.1000A>G (p.Arg334Gly) c.8541A>G (n.8541A>G) c.1098A>G c.31A>G (p.Arg11Gly) c.8437A>G (p.Arg2813Gly) | dbSNP |
13 | g.32371001A>T | CA387752741 | BRCA2 | c.8533A>T (p.Arg2845Ter) c.8164A>T (p.Arg2722Ter) c.1000A>T (p.Arg334Ter) c.8541A>T (n.8541A>T) c.1098A>T c.31A>T (p.Arg11Ter) c.8437A>T (p.Arg2813Ter) | |
13 | g.32371005_32371006del | CA025697 | BRCA2 | c.8537_8538del (p.Glu2846GlyfsTer22) c.8168_8169del (p.Glu2723GlyfsTer22) c.1004_1005del (p.Glu335GlyfsTer22) c.8545_8546del (n.8545_8546del) c.1102_1103del c.35_36del (p.Glu12GlyfsTer22) c.8441_8442del (p.Glu2814GlyfsTer22) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32371003_32371006del | CA025698 | BRCA2 | c.8535_8538del (p.Glu2846LysfsTer16) c.8166_8169del (p.Glu2723LysfsTer16) c.1002_1005del (p.Glu335LysfsTer16) c.8543_8546del (n.8543_8546del) c.1100_1103del c.33_36del (p.Glu12LysfsTer16) c.8439_8442del (p.Glu2814LysfsTer16) | ClinVar dbSNP gnomAD v4 |
13 | g.32371002G>A | CA387752742 | BRCA2 | c.8534G>A (p.Arg2845Lys) c.8165G>A (p.Arg2722Lys) c.1001G>A (p.Arg334Lys) c.8542G>A (n.8542G>A) c.1099G>A c.32G>A (p.Arg11Lys) c.8438G>A (p.Arg2813Lys) | ClinVar |
13 | g.32371002G>C | CA387752743 | BRCA2 | c.8534G>C (p.Arg2845Thr) c.8165G>C (p.Arg2722Thr) c.1001G>C (p.Arg334Thr) c.8542G>C (n.8542G>C) c.1099G>C c.32G>C (p.Arg11Thr) c.8438G>C (p.Arg2813Thr) | |
13 | g.32371002G>T | CA387752744 | BRCA2 | c.8534G>T (p.Arg2845Ile) c.8165G>T (p.Arg2722Ile) c.1001G>T (p.Arg334Ile) c.8542G>T (n.8542G>T) c.1099G>T c.32G>T (p.Arg11Ile) c.8438G>T (p.Arg2813Ile) | |
13 | g.32371002_32371003insTCGC | CA2538391578 | BRCA2 | c.8534_8535insTCGC (p.Arg2845SerfsTer25) c.8165_8166insTCGC (p.Arg2722SerfsTer25) c.1001_1002insTCGC (p.Arg334SerfsTer25) c.8542_8543insTCGC (n.8542_8543insTCGC) c.1099_1100insTCGC c.32_33insTCGC (p.Arg11SerfsTer25) c.8438_8439insTCGC (p.Arg2813SerfsTer25) | |
13 | g.32371003del | CA2575388009 | BRCA2 | c.8535del (p.Glu2846ArgfsTer17) c.8166del (p.Glu2723ArgfsTer17) c.1002del (p.Glu335ArgfsTer17) c.8543del (n.8543del) c.1100del c.33del (p.Glu12ArgfsTer17) c.8439del (p.Glu2814ArgfsTer17) | ClinVar |
13 | g.32371003A>C | CA387752745 | BRCA2 | c.8535A>C (p.Arg2845Ser) c.8166A>C (p.Arg2722Ser) c.1002A>C (p.Arg334Ser) c.8543A>C (n.8543A>C) c.1100A>C c.33A>C (p.Arg11Ser) c.8439A>C (p.Arg2813Ser) | |
13 | g.32371003A>G | CA483261513 | BRCA2 | c.8535A>G (p.Arg2845=) c.8166A>G (p.Arg2722=) c.1002A>G (p.Arg334=) c.8543A>G (n.8543A>G) c.1100A>G c.33A>G (p.Arg11=) c.8439A>G (p.Arg2813=) | |
13 | g.32371003A>T | CA387752746 | BRCA2 | c.8535A>T (p.Arg2845Ser) c.8166A>T (p.Arg2722Ser) c.1002A>T (p.Arg334Ser) c.8543A>T (n.8543A>T) c.1100A>T c.33A>T (p.Arg11Ser) c.8439A>T (p.Arg2813Ser) | dbSNP |
13 | g.32371004G>A | CA387752748 | BRCA2 | c.8536G>A (p.Glu2846Lys) c.8167G>A (p.Glu2723Lys) c.1003G>A (p.Glu335Lys) c.8544G>A (n.8544G>A) c.1101G>A c.34G>A (p.Glu12Lys) c.8440G>A (p.Glu2814Lys) | dbSNP |
13 | g.32371004G>C | CA387752747 | BRCA2 | c.8536G>C (p.Glu2846Gln) c.8167G>C (p.Glu2723Gln) c.1003G>C (p.Glu335Gln) c.8544G>C (n.8544G>C) c.1101G>C c.34G>C (p.Glu12Gln) c.8440G>C (p.Glu2814Gln) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32371004G= | CA2082815654 | BRCA2 | c.8536G= (p.Glu2846=) c.8167G= (p.Glu2723=) c.1003G= (p.Glu335=) c.8544G= (n.8544G=) c.1101G= c.34G= (p.Glu12=) c.8440G= (p.Glu2814=) | |
13 | g.32371004G>T | CA10589506 | BRCA2 | c.8536G>T (p.Glu2846Ter) c.8167G>T (p.Glu2723Ter) c.1003G>T (p.Glu335Ter) c.8544G>T (n.8544G>T) c.1101G>T c.34G>T (p.Glu12Ter) c.8440G>T (p.Glu2814Ter) | ClinVar dbSNP |
13 | g.32371004_32371005insCATATCACC | CA2525526208 | BRCA2 | c.8536_8537insCATATCACC (p.Glu2846delinsAlaTyrHisGln) c.8167_8168insCATATCACC (p.Glu2723delinsAlaTyrHisGln) c.1003_1004insCATATCACC (p.Glu335delinsAlaTyrHisGln) c.8544_8545insCATATCACC (n.8544_8545insCATATCACC) c.1101_1102insCATATCACC c.34_35insCATATCACC (p.Glu12delinsAlaTyrHisGln) c.8440_8441insCATATCACC (p.Glu2814delinsAlaTyrHisGln) | |
13 | g.32371005A>C | CA387752749 | BRCA2 | c.8537A>C (p.Glu2846Ala) c.8168A>C (p.Glu2723Ala) c.1004A>C (p.Glu335Ala) c.8545A>C (n.8545A>C) c.1102A>C c.35A>C (p.Glu12Ala) c.8441A>C (p.Glu2814Ala) | |
13 | g.32371005A>G | CA387752750 | BRCA2 | c.8537A>G (p.Glu2846Gly) c.8168A>G (p.Glu2723Gly) c.1004A>G (p.Glu335Gly) c.8545A>G (n.8545A>G) c.1102A>G c.35A>G (p.Glu12Gly) c.8441A>G (p.Glu2814Gly) | dbSNP |
13 | g.32371005A>T | CA387752751 | BRCA2 | c.8537A>T (p.Glu2846Val) c.8168A>T (p.Glu2723Val) c.1004A>T (p.Glu335Val) c.8545A>T (n.8545A>T) c.1102A>T c.35A>T (p.Glu12Val) c.8441A>T (p.Glu2814Val) | |
13 | g.32371006G>A | CA483261514 | BRCA2 | c.8538G>A (p.Glu2846=) c.8169G>A (p.Glu2723=) c.1005G>A (p.Glu335=) c.8546G>A (n.8546G>A) c.1103G>A c.36G>A (p.Glu12=) c.8442G>A (p.Glu2814=) | ClinVar dbSNP gnomAD v4 |
13 | g.32371006G>C | CA387752752 | BRCA2 | c.8538G>C (p.Glu2846Asp) c.8169G>C (p.Glu2723Asp) c.1005G>C (p.Glu335Asp) c.8546G>C (n.8546G>C) c.1103G>C c.36G>C (p.Glu12Asp) c.8442G>C (p.Glu2814Asp) | |
13 | g.32371006G= | CA2082815658 | BRCA2 | c.8538G= (p.Glu2846=) c.8169G= (p.Glu2723=) c.1005G= (p.Glu335=) c.8546G= (n.8546G=) c.1103G= c.36G= (p.Glu12=) c.8442G= (p.Glu2814=) | |
13 | g.32371006G>T | CA387752753 | BRCA2 | c.8538G>T (p.Glu2846Asp) c.8169G>T (p.Glu2723Asp) c.1005G>T (p.Glu335Asp) c.8546G>T (n.8546G>T) c.1103G>T c.36G>T (p.Glu12Asp) c.8442G>T (p.Glu2814Asp) | dbSNP |
13 | g.32371007G>A | CA025700 | BRCA2 | c.8539G>A (p.Glu2847Lys) c.8170G>A (p.Glu2724Lys) c.1006G>A (p.Glu336Lys) c.8547G>A (n.8547G>A) c.1104G>A c.37G>A (p.Glu13Lys) c.8443G>A (p.Glu2815Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32371007G>C | CA387752754 | BRCA2 | c.8539G>C (p.Glu2847Gln) c.8170G>C (p.Glu2724Gln) c.1006G>C (p.Glu336Gln) c.8547G>C (n.8547G>C) c.1104G>C c.37G>C (p.Glu13Gln) c.8443G>C (p.Glu2815Gln) | dbSNP |
13 | g.32371007G= | CA2082815669 | BRCA2 | c.8539G= (p.Glu2847=) c.8170G= (p.Glu2724=) c.1006G= (p.Glu336=) c.8547G= (n.8547G=) c.1104G= c.37G= (p.Glu13=) c.8443G= (p.Glu2815=) | |
13 | g.32371007G>T | CA387752755 | BRCA2 | c.8539G>T (p.Glu2847Ter) c.8170G>T (p.Glu2724Ter) c.1006G>T (p.Glu336Ter) c.8547G>T (n.8547G>T) c.1104G>T c.37G>T (p.Glu13Ter) c.8443G>T (p.Glu2815Ter) | |
13 | g.32371008A>C | CA387752756 | BRCA2 | c.8540A>C (p.Glu2847Ala) c.8171A>C (p.Glu2724Ala) c.1007A>C (p.Glu336Ala) c.8548A>C (n.8548A>C) c.1105A>C c.38A>C (p.Glu13Ala) c.8444A>C (p.Glu2815Ala) | ClinVar |
13 | g.32371008A>G | CA387752757 | BRCA2 | c.8540A>G (p.Glu2847Gly) c.8171A>G (p.Glu2724Gly) c.1007A>G (p.Glu336Gly) c.8548A>G (n.8548A>G) c.1105A>G c.38A>G (p.Glu13Gly) c.8444A>G (p.Glu2815Gly) | |
13 | g.32371008A>T | CA387752758 | BRCA2 | c.8540A>T (p.Glu2847Val) c.8171A>T (p.Glu2724Val) c.1007A>T (p.Glu336Val) c.8548A>T (n.8548A>T) c.1105A>T c.38A>T (p.Glu13Val) c.8444A>T (p.Glu2815Val) | |
13 | g.32371009del | CA1139770838 | BRCA2 | c.8541del (p.Glu2848LysfsTer15) c.8172del (p.Glu2725LysfsTer15) c.1008del (p.Glu337LysfsTer15) c.8549del (n.8549del) c.1106del c.39del (p.Glu14LysfsTer15) c.8445del (p.Glu2816LysfsTer15) | |
13 | g.32371009A= | CA2082815674 | BRCA2 | c.8541A= (p.Glu2847=) c.8172A= (p.Glu2724=) c.1008A= (p.Glu336=) c.8549A= (n.8549A=) c.1106A= c.39A= (p.Glu13=) c.8445A= (p.Glu2815=) | |
13 | g.32371009A>C | CA387752759 | BRCA2 | c.8541A>C (p.Glu2847Asp) c.8172A>C (p.Glu2724Asp) c.1008A>C (p.Glu336Asp) c.8549A>C (n.8549A>C) c.1106A>C c.39A>C (p.Glu13Asp) c.8445A>C (p.Glu2815Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.32371009A>G | CA483261515 | BRCA2 | c.8541A>G (p.Glu2847=) c.8172A>G (p.Glu2724=) c.1008A>G (p.Glu336=) c.8549A>G (n.8549A>G) c.1106A>G c.39A>G (p.Glu13=) c.8445A>G (p.Glu2815=) | |
13 | g.32371009A>T | CA387752760 | BRCA2 | c.8541A>T (p.Glu2847Asp) c.8172A>T (p.Glu2724Asp) c.1008A>T (p.Glu336Asp) c.8549A>T (n.8549A>T) c.1106A>T c.39A>T (p.Glu13Asp) c.8445A>T (p.Glu2815Asp) | |
13 | g.32371009_32371010insTTT | CA2523754506 | BRCA2 | c.8541_8542insTTT (p.Glu2847_Glu2848insPhe) c.8172_8173insTTT (p.Glu2724_Glu2725insPhe) c.1008_1009insTTT (p.Glu336_Glu337insPhe) c.8549_8550insTTT (n.8549_8550insTTT) c.1106_1107insTTT c.39_40insTTT (p.Glu13_Glu14insPhe) c.8445_8446insTTT (p.Glu2815_Glu2816insPhe) | |
13 | g.32371010G>A | CA387752761 | BRCA2 | c.8542G>A (p.Glu2848Lys) c.8173G>A (p.Glu2725Lys) c.1009G>A (p.Glu337Lys) c.8550G>A (n.8550G>A) c.1107G>A c.40G>A (p.Glu14Lys) c.8446G>A (p.Glu2816Lys) | |
13 | g.32371010G>C | CA025701 | BRCA2 | c.8542G>C (p.Glu2848Gln) c.8173G>C (p.Glu2725Gln) c.1009G>C (p.Glu337Gln) c.8550G>C (n.8550G>C) c.1107G>C c.40G>C (p.Glu14Gln) c.8446G>C (p.Glu2816Gln) | ClinVar dbSNP |
13 | g.32371010G= | CA2082815682 | BRCA2 | c.8542G= (p.Glu2848=) c.8173G= (p.Glu2725=) c.1009G= (p.Glu337=) c.8550G= (n.8550G=) c.1107G= c.40G= (p.Glu14=) c.8446G= (p.Glu2816=) | |
13 | g.32371010G>T | CA387752762 | BRCA2 | c.8542G>T (p.Glu2848Ter) c.8173G>T (p.Glu2725Ter) c.1009G>T (p.Glu337Ter) c.8550G>T (n.8550G>T) c.1107G>T c.40G>T (p.Glu14Ter) c.8446G>T (p.Glu2816Ter) | |
13 | g.32371010_32371011delinsGA | CA2082815681 | BRCA2 | c.8542_8543delinsGA (p.Glu2848=) c.8173_8174delinsGA (p.Glu2725=) c.1009_1010delinsGA (p.Glu337=) c.8550_8551delinsGA (n.8550_8551delinsGA) c.1107_1108delinsGA c.40_41delinsGA (p.Glu14=) c.8446_8447delinsGA (p.Glu2816=) | |
13 | g.32371011A>C | CA387752764 | BRCA2 | c.8543A>C (p.Glu2848Ala) c.8174A>C (p.Glu2725Ala) c.1010A>C (p.Glu337Ala) c.8551A>C (n.8551A>C) c.1108A>C c.41A>C (p.Glu14Ala) c.8447A>C (p.Glu2816Ala) | |
13 | g.32371011A>G | CA387752765 | BRCA2 | c.8543A>G (p.Glu2848Gly) c.8174A>G (p.Glu2725Gly) c.1010A>G (p.Glu337Gly) c.8551A>G (n.8551A>G) c.1108A>G c.41A>G (p.Glu14Gly) c.8447A>G (p.Glu2816Gly) | |
13 | g.32371011A>T | CA387752763 | BRCA2 | c.8543A>T (p.Glu2848Val) c.8174A>T (p.Glu2725Val) c.1010A>T (p.Glu337Val) c.8551A>T (n.8551A>T) c.1108A>T c.41A>T (p.Glu14Val) c.8447A>T (p.Glu2816Val) | dbSNP |
13 | g.32371014del | CA025704 | BRCA2 | c.8546del (p.Lys2849ArgfsTer14) c.8177del (p.Lys2726ArgfsTer14) c.1013del (p.Lys338ArgfsTer14) c.8554del (n.8554del) c.1111del c.44del (p.Lys15ArgfsTer14) c.8450del (p.Lys2817ArgfsTer14) | ClinVar dbSNP |
13 | g.32371013_32371014del | CA2499222336 | BRCA2 | c.8545_8546del (p.Lys2849GlyfsTer19) c.8176_8177del (p.Lys2726GlyfsTer19) c.1012_1013del (p.Lys338GlyfsTer19) c.8553_8554del (n.8553_8554del) c.1110_1111del c.43_44del (p.Lys15GlyfsTer19) c.8449_8450del (p.Lys2817GlyfsTer19) | ClinVar |
13 | g.32371011_32371012insCGAATT | CA2543985276 | BRCA2 | c.8543_8544insCGAATT (p.Glu2848delinsAspGluLeu) c.8174_8175insCGAATT (p.Glu2725delinsAspGluLeu) c.1010_1011insCGAATT (p.Glu337delinsAspGluLeu) c.8551_8552insCGAATT (n.8551_8552insCGAATT) c.1108_1109insCGAATT c.41_42insCGAATT (p.Glu14delinsAspGluLeu) c.8447_8448insCGAATT (p.Glu2816delinsAspGluLeu) | |
13 | g.32371012A= | CA2082815693 | BRCA2 | c.8544A= (p.Glu2848=) c.8175A= (p.Glu2725=) c.1011A= (p.Glu337=) c.8552A= (n.8552A=) c.1109A= c.42A= (p.Glu14=) c.8448A= (p.Glu2816=) | |
13 | g.32371012A>C | CA16614373 | BRCA2 | c.8544A>C (p.Glu2848Asp) c.8175A>C (p.Glu2725Asp) c.1011A>C (p.Glu337Asp) c.8552A>C (n.8552A>C) c.1109A>C c.42A>C (p.Glu14Asp) c.8448A>C (p.Glu2816Asp) | ClinVar dbSNP |
13 | g.32371012A>G | CA483261516 | BRCA2 | c.8544A>G (p.Glu2848=) c.8175A>G (p.Glu2725=) c.1011A>G (p.Glu337=) c.8552A>G (n.8552A>G) c.1109A>G c.42A>G (p.Glu14=) c.8448A>G (p.Glu2816=) | dbSNP |
13 | g.32371012A>T | CA025702 | BRCA2 | c.8544A>T (p.Glu2848Asp) c.8175A>T (p.Glu2725Asp) c.1011A>T (p.Glu337Asp) c.8552A>T (n.8552A>T) c.1109A>T c.42A>T (p.Glu14Asp) c.8448A>T (p.Glu2816Asp) | ClinVar dbSNP |
13 | g.32371012_32371016delinsAAAGG | CA2082815699 | BRCA2 | c.8544_8548delinsAAAGG (p.Glu2848=) c.8175_8179delinsAAAGG (p.Glu2725=) c.1011_1015delinsAAAGG (p.Glu337=) c.8552_8556delinsAAAGG (n.8552_8556delinsAAAGG) c.1109_1113delinsAAAGG c.42_46delinsAAAGG (p.Glu14=) c.8448_8452delinsAAAGG (p.Glu2816=) | |
13 | g.32371013A= | CA2082815713 | BRCA2 | c.8545A= (p.Lys2849=) c.8176A= (p.Lys2726=) c.1012A= (p.Lys338=) c.8553A= (n.8553A=) c.1110A= c.43A= (p.Lys15=) c.8449A= (p.Lys2817=) | |
13 | g.32371013A>C | CA387752766 | BRCA2 | c.8545A>C (p.Lys2849Gln) c.8176A>C (p.Lys2726Gln) c.1012A>C (p.Lys338Gln) c.8553A>C (n.8553A>C) c.1110A>C c.43A>C (p.Lys15Gln) c.8449A>C (p.Lys2817Gln) | ClinVar dbSNP |
13 | g.32371013A>G | CA025703 | BRCA2 | c.8545A>G (p.Lys2849Glu) c.8176A>G (p.Lys2726Glu) c.1012A>G (p.Lys338Glu) c.8553A>G (n.8553A>G) c.1110A>G c.43A>G (p.Lys15Glu) c.8449A>G (p.Lys2817Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32371013A>T | CA387752767 | BRCA2 | c.8545A>T (p.Lys2849Ter) c.8176A>T (p.Lys2726Ter) c.1012A>T (p.Lys338Ter) c.8553A>T (n.8553A>T) c.1110A>T c.43A>T (p.Lys15Ter) c.8449A>T (p.Lys2817Ter) | |
13 | g.32371016_32371019del | CA025705 | BRCA2 | c.8548_8551del (p.Glu2850GlnfsTer12) c.8179_8182del (p.Glu2727GlnfsTer12) c.1015_1018del (p.Glu339GlnfsTer12) c.8556_8559del (n.8556_8559del) c.1113_1116del c.46_49del (p.Glu16GlnfsTer12) c.8452_8455del (p.Glu2818GlnfsTer12) | ClinVar dbSNP |
13 | g.32371014A>C | CA387752768 | BRCA2 | c.8546A>C (p.Lys2849Thr) c.8177A>C (p.Lys2726Thr) c.1013A>C (p.Lys338Thr) c.8554A>C (n.8554A>C) c.1111A>C c.44A>C (p.Lys15Thr) c.8450A>C (p.Lys2817Thr) | ClinVar |
13 | g.32371014A>G | CA387752769 | BRCA2 | c.8546A>G (p.Lys2849Arg) c.8177A>G (p.Lys2726Arg) c.1013A>G (p.Lys338Arg) c.8554A>G (n.8554A>G) c.1111A>G c.44A>G (p.Lys15Arg) c.8450A>G (p.Lys2817Arg) | dbSNP |
13 | g.32371014A>T | CA387752770 | BRCA2 | c.8546A>T (p.Lys2849Met) c.8177A>T (p.Lys2726Met) c.1013A>T (p.Lys338Met) c.8554A>T (n.8554A>T) c.1111A>T c.44A>T (p.Lys15Met) c.8450A>T (p.Lys2817Met) | dbSNP |
13 | g.32371014_32371015delinsAG | CA2082815721 | BRCA2 | c.8546_8547delinsAG (p.Lys2849=) c.8177_8178delinsAG (p.Lys2726=) c.1013_1014delinsAG (p.Lys338=) c.8554_8555delinsAG (n.8554_8555delinsAG) c.1111_1112delinsAG c.44_45delinsAG (p.Lys15=) c.8450_8451delinsAG (p.Lys2817=) | |
13 | g.32371015G>A | CA6941258 | BRCA2 | c.8547G>A (p.Lys2849=) c.8178G>A (p.Lys2726=) c.1014G>A (p.Lys338=) c.8555G>A (n.8555G>A) c.1112G>A c.45G>A (p.Lys15=) c.8451G>A (p.Lys2817=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32371015G>C | CA387752772 | BRCA2 | c.8547G>C (p.Lys2849Asn) c.8178G>C (p.Lys2726Asn) c.1014G>C (p.Lys338Asn) c.8555G>C (n.8555G>C) c.1112G>C c.45G>C (p.Lys15Asn) c.8451G>C (p.Lys2817Asn) | ClinVar dbSNP |
13 | g.32371015G= | CA2082815728 | BRCA2 | c.8547G= (p.Lys2849=) c.8178G= (p.Lys2726=) c.1014G= (p.Lys338=) c.8555G= (n.8555G=) c.1112G= c.45G= (p.Lys15=) c.8451G= (p.Lys2817=) | |
13 | g.32371015G>T | CA387752771 | BRCA2 | c.8547G>T (p.Lys2849Asn) c.8178G>T (p.Lys2726Asn) c.1014G>T (p.Lys338Asn) c.8555G>T (n.8555G>T) c.1112G>T c.45G>T (p.Lys15Asn) c.8451G>T (p.Lys2817Asn) | dbSNP |
13 | g.32371016del | CA658683836 | BRCA2 | c.8548del (p.Glu2850LysfsTer13) c.8179del (p.Glu2727LysfsTer13) c.1015del (p.Glu339LysfsTer13) c.8556del (n.8556del) c.1113del c.46del (p.Glu16LysfsTer13) c.8452del (p.Glu2818LysfsTer13) | ClinVar dbSNP |
13 | g.32371016G>A | CA025707 | BRCA2 | c.8548G>A (p.Glu2850Lys) c.8179G>A (p.Glu2727Lys) c.1015G>A (p.Glu339Lys) c.8556G>A (n.8556G>A) c.1113G>A c.46G>A (p.Glu16Lys) c.8452G>A (p.Glu2818Lys) | ClinVar dbSNP |
13 | g.32371016G>C | CA387752773 | BRCA2 | c.8548G>C (p.Glu2850Gln) c.8179G>C (p.Glu2727Gln) c.1015G>C (p.Glu339Gln) c.8556G>C (n.8556G>C) c.1113G>C c.46G>C (p.Glu16Gln) c.8452G>C (p.Glu2818Gln) | dbSNP |
13 | g.32371016G= | CA2082815741 | BRCA2 | c.8548G= (p.Glu2850=) c.8179G= (p.Glu2727=) c.1015G= (p.Glu339=) c.8556G= (n.8556G=) c.1113G= c.46G= (p.Glu16=) c.8452G= (p.Glu2818=) | |
13 | g.32371016G>T | CA387752774 | BRCA2 | c.8548G>T (p.Glu2850Ter) c.8179G>T (p.Glu2727Ter) c.1015G>T (p.Glu339Ter) c.8556G>T (n.8556G>T) c.1113G>T c.46G>T (p.Glu16Ter) c.8452G>T (p.Glu2818Ter) | ClinVar dbSNP |
13 | g.32371016_32371017insCGTCGC | CA2533674555 | BRCA2 | c.8548_8549insCGTCGC (p.Glu2850delinsAlaSerGln) c.8179_8180insCGTCGC (p.Glu2727delinsAlaSerGln) c.1015_1016insCGTCGC (p.Glu339delinsAlaSerGln) c.8556_8557insCGTCGC (n.8556_8557insCGTCGC) c.1113_1114insCGTCGC c.46_47insCGTCGC (p.Glu16delinsAlaSerGln) c.8452_8453insCGTCGC (p.Glu2818delinsAlaSerGln) | |
13 | g.32371017A>C | CA387752775 | BRCA2 | c.8549A>C (p.Glu2850Ala) c.8180A>C (p.Glu2727Ala) c.1016A>C (p.Glu339Ala) c.8557A>C (n.8557A>C) c.1114A>C c.47A>C (p.Glu16Ala) c.8453A>C (p.Glu2818Ala) | |
13 | g.32371017A>G | CA387752776 | BRCA2 | c.8549A>G (p.Glu2850Gly) c.8180A>G (p.Glu2727Gly) c.1016A>G (p.Glu339Gly) c.8557A>G (n.8557A>G) c.1114A>G c.47A>G (p.Glu16Gly) c.8453A>G (p.Glu2818Gly) | |
13 | g.32371017A>T | CA387752777 | BRCA2 | c.8549A>T (p.Glu2850Val) c.8180A>T (p.Glu2727Val) c.1016A>T (p.Glu339Val) c.8557A>T (n.8557A>T) c.1114A>T c.47A>T (p.Glu16Val) c.8453A>T (p.Glu2818Val) | |
13 | g.32371018del | CA1164681425 | BRCA2 | c.8550del (p.Ala2851GlnfsTer12) c.8181del (p.Ala2728GlnfsTer12) c.1017del (p.Ala340GlnfsTer12) c.8558del (n.8558del) c.1115del c.48del (p.Ala17GlnfsTer12) c.8454del (p.Ala2819GlnfsTer12) | ClinVar dbSNP |
13 | g.32371018A= | CA2082815754 | BRCA2 | c.8550A= (p.Glu2850=) c.8181A= (p.Glu2727=) c.1017A= (p.Glu339=) c.8558A= (n.8558A=) c.1115A= c.48A= (p.Glu16=) c.8454A= (p.Glu2818=) | |
13 | g.32371018A>C | CA387752778 | BRCA2 | c.8550A>C (p.Glu2850Asp) c.8181A>C (p.Glu2727Asp) c.1017A>C (p.Glu339Asp) c.8558A>C (n.8558A>C) c.1115A>C c.48A>C (p.Glu16Asp) c.8454A>C (p.Glu2818Asp) | ClinVar dbSNP |
13 | g.32371018A>G | CA483261517 | BRCA2 | c.8550A>G (p.Glu2850=) c.8181A>G (p.Glu2727=) c.1017A>G (p.Glu339=) c.8558A>G (n.8558A>G) c.1115A>G c.48A>G (p.Glu16=) c.8454A>G (p.Glu2818=) | ClinVar dbSNP |
13 | g.32371018A>T | CA387752779 | BRCA2 | c.8550A>T (p.Glu2850Asp) c.8181A>T (p.Glu2727Asp) c.1017A>T (p.Glu339Asp) c.8558A>T (n.8558A>T) c.1115A>T c.48A>T (p.Glu16Asp) c.8454A>T (p.Glu2818Asp) | ClinVar dbSNP |
13 | g.32371019G>A | CA387752781 | BRCA2 | c.8551G>A (p.Ala2851Thr) c.8182G>A (p.Ala2728Thr) c.1018G>A (p.Ala340Thr) c.8559G>A (n.8559G>A) c.1116G>A c.49G>A (p.Ala17Thr) c.8455G>A (p.Ala2819Thr) | dbSNP gnomAD v4 |
13 | g.32371019G>C | CA387752780 | BRCA2 | c.8551G>C (p.Ala2851Pro) c.8182G>C (p.Ala2728Pro) c.1018G>C (p.Ala340Pro) c.8559G>C (n.8559G>C) c.1116G>C c.49G>C (p.Ala17Pro) c.8455G>C (p.Ala2819Pro) | dbSNP |
13 | g.32371019G= | CA2082815764 | BRCA2 | c.8551G= (p.Ala2851=) c.8182G= (p.Ala2728=) c.1018G= (p.Ala340=) c.8559G= (n.8559G=) c.1116G= c.49G= (p.Ala17=) c.8455G= (p.Ala2819=) | |
13 | g.32371019G>T | CA10579793 | BRCA2 | c.8551G>T (p.Ala2851Ser) c.8182G>T (p.Ala2728Ser) c.1018G>T (p.Ala340Ser) c.8559G>T (n.8559G>T) c.1116G>T c.49G>T (p.Ala17Ser) c.8455G>T (p.Ala2819Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32371019_32371038dup | CA2499222337 | BRCA2 | c.8551_8570dup (p.Lys2860AsnfsTer10) c.8182_8201dup (p.Lys2737AsnfsTer10) c.1018_1037dup (p.Lys349AsnfsTer10) c.8559_8578dup (n.8559_8578dup) c.1116_1135dup c.49_68dup (p.Lys26AsnfsTer10) c.8455_8474dup (p.Lys2828AsnfsTer10) | |
13 | g.32371020del | CA2532981625 | BRCA2 | c.8552del (p.Ala2851GlufsTer12) c.8183del (p.Ala2728GlufsTer12) c.1019del (p.Ala340GlufsTer12) c.8560del (n.8560del) c.1117del c.50del (p.Ala17GlufsTer12) c.8456del (p.Ala2819GlufsTer12) | |
13 | g.32371020C>A | CA387752782 | BRCA2 | c.8552C>A (p.Ala2851Glu) c.8183C>A (p.Ala2728Glu) c.1019C>A (p.Ala340Glu) c.8560C>A (n.8560C>A) c.1117C>A c.50C>A (p.Ala17Glu) c.8456C>A (p.Ala2819Glu) | dbSNP |
13 | g.32371020C= | CA2082815779 | BRCA2 | c.8552C= (p.Ala2851=) c.8183C= (p.Ala2728=) c.1019C= (p.Ala340=) c.8560C= (n.8560C=) c.1117C= c.50C= (p.Ala17=) c.8456C= (p.Ala2819=) | |
13 | g.32371020C>G | CA387752783 | BRCA2 | c.8552C>G (p.Ala2851Gly) c.8183C>G (p.Ala2728Gly) c.1019C>G (p.Ala340Gly) c.8560C>G (n.8560C>G) c.1117C>G c.50C>G (p.Ala17Gly) c.8456C>G (p.Ala2819Gly) | ClinVar dbSNP |
13 | g.32371020C>T | CA10579794 | BRCA2 | c.8552C>T (p.Ala2851Val) c.8183C>T (p.Ala2728Val) c.1019C>T (p.Ala340Val) c.8560C>T (n.8560C>T) c.1117C>T c.50C>T (p.Ala17Val) c.8456C>T (p.Ala2819Val) | ClinVar dbSNP |
13 | g.32371021A= | CA2082815783 | BRCA2 | c.8553A= (p.Ala2851=) c.8184A= (p.Ala2728=) c.1020A= (p.Ala340=) c.8561A= (n.8561A=) c.1118A= c.51A= (p.Ala17=) c.8457A= (p.Ala2819=) | |
13 | g.32371021A>C | CA483261518 | BRCA2 | c.8553A>C (p.Ala2851=) c.8184A>C (p.Ala2728=) c.1020A>C (p.Ala340=) c.8561A>C (n.8561A>C) c.1118A>C c.51A>C (p.Ala17=) c.8457A>C (p.Ala2819=) | |
13 | g.32371021A>G | CA247484182 | BRCA2 | c.8553A>G (p.Ala2851=) c.8184A>G (p.Ala2728=) c.1020A>G (p.Ala340=) c.8561A>G (n.8561A>G) c.1118A>G c.51A>G (p.Ala17=) c.8457A>G (p.Ala2819=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32371021A>T | CA483261519 | BRCA2 | c.8553A>T (p.Ala2851=) c.8184A>T (p.Ala2728=) c.1020A>T (p.Ala340=) c.8561A>T (n.8561A>T) c.1118A>T c.51A>T (p.Ala17=) c.8457A>T (p.Ala2819=) | dbSNP |
13 | g.32371022G>A | CA387752784 | BRCA2 | c.8554G>A (p.Ala2852Thr) c.8185G>A (p.Ala2729Thr) c.1021G>A (p.Ala341Thr) c.8562G>A (n.8562G>A) c.1119G>A c.52G>A (p.Ala18Thr) c.8458G>A (p.Ala2820Thr) | ClinVar dbSNP |
13 | g.32371022G>C | CA387752785 | BRCA2 | c.8554G>C (p.Ala2852Pro) c.8185G>C (p.Ala2729Pro) c.1021G>C (p.Ala341Pro) c.8562G>C (n.8562G>C) c.1119G>C c.52G>C (p.Ala18Pro) c.8458G>C (p.Ala2820Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32371022G= | CA2082815790 | BRCA2 | c.8554G= (p.Ala2852=) c.8185G= (p.Ala2729=) c.1021G= (p.Ala341=) c.8562G= (n.8562G=) c.1119G= c.52G= (p.Ala18=) c.8458G= (p.Ala2820=) | |
13 | g.32371022G>T | CA387752786 | BRCA2 | c.8554G>T (p.Ala2852Ser) c.8185G>T (p.Ala2729Ser) c.1021G>T (p.Ala341Ser) c.8562G>T (n.8562G>T) c.1119G>T c.52G>T (p.Ala18Ser) c.8458G>T (p.Ala2820Ser) | |
13 | g.32371023C>A | CA387752787 | BRCA2 | c.8555C>A (p.Ala2852Glu) c.8186C>A (p.Ala2729Glu) c.1022C>A (p.Ala341Glu) c.8563C>A (n.8563C>A) c.1120C>A c.53C>A (p.Ala18Glu) c.8459C>A (p.Ala2820Glu) | dbSNP |
13 | g.32371023C>G | CA387752788 | BRCA2 | c.8555C>G (p.Ala2852Gly) c.8186C>G (p.Ala2729Gly) c.1022C>G (p.Ala341Gly) c.8563C>G (n.8563C>G) c.1120C>G c.53C>G (p.Ala18Gly) c.8459C>G (p.Ala2820Gly) | |
13 | g.32371023C>T | CA387752789 | BRCA2 | c.8555C>T (p.Ala2852Val) c.8186C>T (p.Ala2729Val) c.1022C>T (p.Ala341Val) c.8563C>T (n.8563C>T) c.1120C>T c.53C>T (p.Ala18Val) c.8459C>T (p.Ala2820Val) | |
13 | g.32371023_32371024delinsCA | CA2082815800 | BRCA2 | c.8555_8556delinsCA (p.Ala2852=) c.8186_8187delinsCA (p.Ala2729=) c.1022_1023delinsCA (p.Ala341=) c.8563_8564delinsCA (n.8563_8564delinsCA) c.1120_1121delinsCA c.53_54delinsCA (p.Ala18=) c.8459_8460delinsCA (p.Ala2820=) | |
13 | g.32371024A= | CA2082815807 | BRCA2 | c.8556A= (p.Ala2852=) c.8187A= (p.Ala2729=) c.1023A= (p.Ala341=) c.8564A= (n.8564A=) c.1121A= c.54A= (p.Ala18=) c.8460A= (p.Ala2820=) | |
13 | g.32371024A>C | CA483261520 | BRCA2 | c.8556A>C (p.Ala2852=) c.8187A>C (p.Ala2729=) c.1023A>C (p.Ala341=) c.8564A>C (n.8564A>C) c.1121A>C c.54A>C (p.Ala18=) c.8460A>C (p.Ala2820=) | |
13 | g.32371024A>G | CA483261521 | BRCA2 | c.8556A>G (p.Ala2852=) c.8187A>G (p.Ala2729=) c.1023A>G (p.Ala341=) c.8564A>G (n.8564A>G) c.1121A>G c.54A>G (p.Ala18=) c.8460A>G (p.Ala2820=) | ClinVar dbSNP |
13 | g.32371024A>T | CA483261522 | BRCA2 | c.8556A>T (p.Ala2852=) c.8187A>T (p.Ala2729=) c.1023A>T (p.Ala341=) c.8564A>T (n.8564A>T) c.1121A>T c.54A>T (p.Ala18=) c.8460A>T (p.Ala2820=) | |
13 | g.32371027del | CA916080527 | BRCA2 | c.8559del (p.Lys2853AsnfsTer10) c.8190del (p.Lys2730AsnfsTer10) c.1026del (p.Lys342AsnfsTer10) c.8567del (n.8567del) c.1124del c.57del (p.Lys19AsnfsTer10) c.8463del (p.Lys2821AsnfsTer10) | ClinVar dbSNP |
13 | g.32371025A= | CA2082815814 | BRCA2 | c.8557A= (p.Lys2853=) c.8188A= (p.Lys2730=) c.1024A= (p.Lys342=) c.8565A= (n.8565A=) c.1122A= c.55A= (p.Lys19=) c.8461A= (p.Lys2821=) | |
13 | g.32371025A>C | CA387752790 | BRCA2 | c.8557A>C (p.Lys2853Gln) c.8188A>C (p.Lys2730Gln) c.1024A>C (p.Lys342Gln) c.8565A>C (n.8565A>C) c.1122A>C c.55A>C (p.Lys19Gln) c.8461A>C (p.Lys2821Gln) | |
13 | g.32371025A>G | CA387752791 | BRCA2 | c.8557A>G (p.Lys2853Glu) c.8188A>G (p.Lys2730Glu) c.1024A>G (p.Lys342Glu) c.8565A>G (n.8565A>G) c.1122A>G c.55A>G (p.Lys19Glu) c.8461A>G (p.Lys2821Glu) | ClinVar |
13 | g.32371025A>T | CA16042861 | BRCA2 | c.8557A>T (p.Lys2853Ter) c.8188A>T (p.Lys2730Ter) c.1024A>T (p.Lys342Ter) c.8565A>T (n.8565A>T) c.1122A>T c.55A>T (p.Lys19Ter) c.8461A>T (p.Lys2821Ter) | ClinVar dbSNP |
13 | g.32371025_32371026insCT | CA2557883067 | BRCA2 | c.8557_8558insCT (p.Lys2853ThrfsTer11) c.8188_8189insCT (p.Lys2730ThrfsTer11) c.1024_1025insCT (p.Lys342ThrfsTer11) c.8565_8566insCT (n.8565_8566insCT) c.1122_1123insCT c.55_56insCT (p.Lys19ThrfsTer11) c.8461_8462insCT (p.Lys2821ThrfsTer11) | |
13 | g.32371026A= | CA2082815822 | BRCA2 | c.8558A= (p.Lys2853=) c.8189A= (p.Lys2730=) c.1025A= (p.Lys342=) c.8566A= (n.8566A=) c.1123A= c.56A= (p.Lys19=) c.8462A= (p.Lys2821=) | |
13 | g.32371026A>C | CA387752792 | BRCA2 | c.8558A>C (p.Lys2853Thr) c.8189A>C (p.Lys2730Thr) c.1025A>C (p.Lys342Thr) c.8566A>C (n.8566A>C) c.1123A>C c.56A>C (p.Lys19Thr) c.8462A>C (p.Lys2821Thr) | |
13 | g.32371026A>G | CA6941259 | BRCA2 | c.8558A>G (p.Lys2853Arg) c.8189A>G (p.Lys2730Arg) c.1025A>G (p.Lys342Arg) c.8566A>G (n.8566A>G) c.1123A>G c.56A>G (p.Lys19Arg) c.8462A>G (p.Lys2821Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32371026A>T | CA387752793 | BRCA2 | c.8558A>T (p.Lys2853Ile) c.8189A>T (p.Lys2730Ile) c.1025A>T (p.Lys342Ile) c.8566A>T (n.8566A>T) c.1123A>T c.56A>T (p.Lys19Ile) c.8462A>T (p.Lys2821Ile) | |
13 | g.32371026_32371030del | CA2571937896 | BRCA2 | c.8558_8562del (p.Lys2853SerfsTer14) c.8189_8193del (p.Lys2730SerfsTer14) c.1025_1029del (p.Lys342SerfsTer14) c.8566_8570del (n.8566_8570del) c.1123_1127del c.56_60del (p.Lys19SerfsTer14) c.8462_8466del (p.Lys2821SerfsTer14) | |
13 | g.32371027A= | CA2082815831 | BRCA2 | c.8559A= (p.Lys2853=) c.8190A= (p.Lys2730=) c.1026A= (p.Lys342=) c.8567A= (n.8567A=) c.1124A= c.57A= (p.Lys19=) c.8463A= (p.Lys2821=) | |
13 | g.32371027A>C | CA387752794 | BRCA2 | c.8559A>C (p.Lys2853Asn) c.8190A>C (p.Lys2730Asn) c.1026A>C (p.Lys342Asn) c.8567A>C (n.8567A>C) c.1124A>C c.57A>C (p.Lys19Asn) c.8463A>C (p.Lys2821Asn) | ClinVar |
13 | g.32371027A>G | CA16607496 | BRCA2 | c.8559A>G (p.Lys2853=) c.8190A>G (p.Lys2730=) c.1026A>G (p.Lys342=) c.8567A>G (n.8567A>G) c.1124A>G c.57A>G (p.Lys19=) c.8463A>G (p.Lys2821=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32371027A>T | CA387752795 | BRCA2 | c.8559A>T (p.Lys2853Asn) c.8190A>T (p.Lys2730Asn) c.1026A>T (p.Lys342Asn) c.8567A>T (n.8567A>T) c.1124A>T c.57A>T (p.Lys19Asn) c.8463A>T (p.Lys2821Asn) | |
13 | g.32371027_32371028delinsAT | CA2082815829 | BRCA2 | c.8559_8560delinsAT (p.Lys2853=) c.8190_8191delinsAT (p.Lys2730=) c.1026_1027delinsAT (p.Lys342=) c.8567_8568delinsAT (n.8567_8568delinsAT) c.1124_1125delinsAT c.57_58delinsAT (p.Lys19=) c.8463_8464delinsAT (p.Lys2821=) | |
13 | g.32371028del | CA025708 | BRCA2 | c.8560del (p.Tyr2854MetfsTer9) c.8191del (p.Tyr2731MetfsTer9) c.1027del (p.Tyr343MetfsTer9) c.8568del (n.8568del) c.1125del c.58del (p.Tyr20MetfsTer9) c.8464del (p.Tyr2822MetfsTer9) | ClinVar dbSNP |
13 | g.32371028T>A | CA387752796 | BRCA2 | c.8560T>A (p.Tyr2854Asn) c.8191T>A (p.Tyr2731Asn) c.1027T>A (p.Tyr343Asn) c.8568T>A (n.8568T>A) c.1125T>A c.58T>A (p.Tyr20Asn) c.8464T>A (p.Tyr2822Asn) | dbSNP |
13 | g.32371028T>C | CA387752797 | BRCA2 | c.8560T>C (p.Tyr2854His) c.8191T>C (p.Tyr2731His) c.1027T>C (p.Tyr343His) c.8568T>C (n.8568T>C) c.1125T>C c.58T>C (p.Tyr20His) c.8464T>C (p.Tyr2822His) | ClinVar dbSNP |
13 | g.32371028T>G | CA387752798 | BRCA2 | c.8560T>G (p.Tyr2854Asp) c.8191T>G (p.Tyr2731Asp) c.1027T>G (p.Tyr343Asp) c.8568T>G (n.8568T>G) c.1125T>G c.58T>G (p.Tyr20Asp) c.8464T>G (p.Tyr2822Asp) | |
13 | g.32371028T= | CA2082815837 | BRCA2 | c.8560T= (p.Tyr2854=) c.8191T= (p.Tyr2731=) c.1027T= (p.Tyr343=) c.8568T= (n.8568T=) c.1125T= c.58T= (p.Tyr20=) c.8464T= (p.Tyr2822=) | |
13 | g.32371028_32371029insTT | CA2536171156 | BRCA2 | c.8560_8561insTT (p.Tyr2854PhefsTer10) c.8191_8192insTT (p.Tyr2731PhefsTer10) c.1027_1028insTT (p.Tyr343PhefsTer10) c.8568_8569insTT (n.8568_8569insTT) c.1125_1126insTT c.58_59insTT (p.Tyr20PhefsTer10) c.8464_8465insTT (p.Tyr2822PhefsTer10) | |
13 | g.32371029A>C | CA387752799 | BRCA2 | c.8561A>C (p.Tyr2854Ser) c.8192A>C (p.Tyr2731Ser) c.1028A>C (p.Tyr343Ser) c.8569A>C (n.8569A>C) c.1126A>C c.59A>C (p.Tyr20Ser) c.8465A>C (p.Tyr2822Ser) | |
13 | g.32371029A>G | CA387752800 | BRCA2 | c.8561A>G (p.Tyr2854Cys) c.8192A>G (p.Tyr2731Cys) c.1028A>G (p.Tyr343Cys) c.8569A>G (n.8569A>G) c.1126A>G c.59A>G (p.Tyr20Cys) c.8465A>G (p.Tyr2822Cys) | |
13 | g.32371029A>T | CA387752801 | BRCA2 | c.8561A>T (p.Tyr2854Phe) c.8192A>T (p.Tyr2731Phe) c.1028A>T (p.Tyr343Phe) c.8569A>T (n.8569A>T) c.1126A>T c.59A>T (p.Tyr20Phe) c.8465A>T (p.Tyr2822Phe) | |
13 | g.32371029dup | CA025709 | BRCA2 | c.8561dup (p.Tyr2854Ter) c.8192dup (p.Tyr2731Ter) c.1028dup (p.Tyr343Ter) c.8569dup (n.8569dup) c.1126dup c.59dup (p.Tyr20Ter) c.8465dup (p.Tyr2822Ter) | ClinVar dbSNP |
13 | g.32371029_32371030delinsAT | CA2082815859 | BRCA2 | c.8561_8562delinsAT (p.Tyr2854=) c.8192_8193delinsAT (p.Tyr2731=) c.1028_1029delinsAT (p.Tyr343=) c.8569_8570delinsAT (n.8569_8570delinsAT) c.1126_1127delinsAT c.59_60delinsAT (p.Tyr20=) c.8465_8466delinsAT (p.Tyr2822=) | |
13 | g.32371029_32371036dup | CA916080528 | BRCA2 | c.8561_8568dup (p.Ala2857MetfsTer9) c.8192_8199dup (p.Ala2734MetfsTer9) c.1028_1035dup (p.Ala346MetfsTer9) c.8569_8576dup (n.8569_8576dup) c.1126_1133dup c.59_66dup (p.Ala23MetfsTer9) c.8465_8472dup (p.Ala2825MetfsTer9) | ClinVar dbSNP |
13 | g.32371029_32371030insCCTCGTCCTTCT | CA2541660433 | BRCA2 | c.8561_8562insCCTCGTCCTTCT (p.Tyr2854_Val2855insLeuValLeuLeu) c.8192_8193insCCTCGTCCTTCT (p.Tyr2731_Val2732insLeuValLeuLeu) c.1028_1029insCCTCGTCCTTCT (p.Tyr343_Val344insLeuValLeuLeu) c.8569_8570insCCTCGTCCTTCT (n.8569_8570insCCTCGTCCTTCT) c.1126_1127insCCTCGTCCTTCT c.59_60insCCTCGTCCTTCT (p.Tyr20_Val21insLeuValLeuLeu) c.8465_8466insCCTCGTCCTTCT (p.Tyr2822_Val2823insLeuValLeuLeu) | |
13 | g.32371030del | CA10589507 | BRCA2 | c.8562del (p.Tyr2854Ter) c.8193del (p.Tyr2731Ter) c.1029del (p.Tyr343Ter) c.8570del (n.8570del) c.1127del c.60del (p.Tyr20Ter) c.8466del (p.Tyr2822Ter) | ClinVar dbSNP |
13 | g.32371030T>A | CA387752802 | BRCA2 | c.8562T>A (p.Tyr2854Ter) c.8193T>A (p.Tyr2731Ter) c.1029T>A (p.Tyr343Ter) c.8570T>A (n.8570T>A) c.1127T>A c.60T>A (p.Tyr20Ter) c.8466T>A (p.Tyr2822Ter) | ClinVar dbSNP |
13 | g.32371030T>C | CA025710 | BRCA2 | c.8562T>C (p.Tyr2854=) c.8193T>C (p.Tyr2731=) c.1029T>C (p.Tyr343=) c.8570T>C (n.8570T>C) c.1127T>C c.60T>C (p.Tyr20=) c.8466T>C (p.Tyr2822=) | ClinVar dbSNP |
13 | g.32371030T>G | CA387752803 | BRCA2 | c.8562T>G (p.Tyr2854Ter) c.8193T>G (p.Tyr2731Ter) c.1029T>G (p.Tyr343Ter) c.8570T>G (n.8570T>G) c.1127T>G c.60T>G (p.Tyr20Ter) c.8466T>G (p.Tyr2822Ter) | ClinVar dbSNP |
13 | g.32371030T= | CA2082815882 | BRCA2 | c.8562T= (p.Tyr2854=) c.8193T= (p.Tyr2731=) c.1029T= (p.Tyr343=) c.8570T= (n.8570T=) c.1127T= c.60T= (p.Tyr20=) c.8466T= (p.Tyr2822=) | |
13 | g.32371031G>A | CA387752805 | BRCA2 | c.8563G>A (p.Val2855Met) c.8194G>A (p.Val2732Met) c.1030G>A (p.Val344Met) c.8571G>A (n.8571G>A) c.1128G>A c.61G>A (p.Val21Met) c.8467G>A (p.Val2823Met) | dbSNP |
13 | g.32371031G>C | CA387752806 | BRCA2 | c.8563G>C (p.Val2855Leu) c.8194G>C (p.Val2732Leu) c.1030G>C (p.Val344Leu) c.8571G>C (n.8571G>C) c.1128G>C c.61G>C (p.Val21Leu) c.8467G>C (p.Val2823Leu) | dbSNP |
13 | g.32371031G>T | CA387752804 | BRCA2 | c.8563G>T (p.Val2855Leu) c.8194G>T (p.Val2732Leu) c.1030G>T (p.Val344Leu) c.8571G>T (n.8571G>T) c.1128G>T c.61G>T (p.Val21Leu) c.8467G>T (p.Val2823Leu) | |
13 | g.32371032T>A | CA387752807 | BRCA2 | c.8564T>A (p.Val2855Glu) c.8195T>A (p.Val2732Glu) c.1031T>A (p.Val344Glu) c.8572T>A (n.8572T>A) c.1129T>A c.62T>A (p.Val21Glu) c.8468T>A (p.Val2823Glu) | |
13 | g.32371032T>C | CA387752808 | BRCA2 | c.8564T>C (p.Val2855Ala) c.8195T>C (p.Val2732Ala) c.1031T>C (p.Val344Ala) c.8572T>C (n.8572T>C) c.1129T>C c.62T>C (p.Val21Ala) c.8468T>C (p.Val2823Ala) | |
13 | g.32371032T>G | CA387752809 | BRCA2 | c.8564T>G (p.Val2855Gly) c.8195T>G (p.Val2732Gly) c.1031T>G (p.Val344Gly) c.8572T>G (n.8572T>G) c.1129T>G c.62T>G (p.Val21Gly) c.8468T>G (p.Val2823Gly) | |
13 | g.32371032_32371033delinsTG | CA2082815971 | BRCA2 | c.8564_8565delinsTG (p.Val2855=) c.8195_8196delinsTG (p.Val2732=) c.1031_1032delinsTG (p.Val344=) c.8572_8573delinsTG (n.8572_8573delinsTG) c.1129_1130delinsTG c.62_63delinsTG (p.Val21=) c.8468_8469delinsTG (p.Val2823=) | |
13 | g.32371033G>A | CA025711 | BRCA2 | c.8565G>A (p.Val2855=) c.8196G>A (p.Val2732=) c.1032G>A (p.Val344=) c.8573G>A (n.8573G>A) c.1130G>A c.63G>A (p.Val21=) c.8469G>A (p.Val2823=) | ClinVar dbSNP |
13 | g.32371033G>C | CA10579795 | BRCA2 | c.8565G>C (p.Val2855=) c.8196G>C (p.Val2732=) c.1032G>C (p.Val344=) c.8573G>C (n.8573G>C) c.1130G>C c.63G>C (p.Val21=) c.8469G>C (p.Val2823=) | ClinVar dbSNP |
13 | g.32371033G= | CA2082815992 | BRCA2 | c.8565G= (p.Val2855=) c.8196G= (p.Val2732=) c.1032G= (p.Val344=) c.8573G= (n.8573G=) c.1130G= c.63G= (p.Val21=) c.8469G= (p.Val2823=) | |
13 | g.32371033G>T | CA483261523 | BRCA2 | c.8565G>T (p.Val2855=) c.8196G>T (p.Val2732=) c.1032G>T (p.Val344=) c.8573G>T (n.8573G>T) c.1130G>T c.63G>T (p.Val21=) c.8469G>T (p.Val2823=) | |
13 | g.32371034del | CA10589508 | BRCA2 | c.8566del (p.Glu2856ArgfsTer7) c.8197del (p.Glu2733ArgfsTer7) c.1033del (p.Glu345ArgfsTer7) c.8574del (n.8574del) c.1131del c.64del (p.Glu22ArgfsTer7) c.8470del (p.Glu2824ArgfsTer7) | ClinVar dbSNP |
13 | g.32371033_32371035delinsGGA | CA2082815999 | BRCA2 | c.8565_8567delinsGGA (p.Val2855=) c.8196_8198delinsGGA (p.Val2732=) c.1032_1034delinsGGA (p.Val344=) c.8573_8575delinsGGA (n.8573_8575delinsGGA) c.1130_1132delinsGGA c.63_65delinsGGA (p.Val21=) c.8469_8471delinsGGA (p.Val2823=) | |
13 | g.32371033_32371034insTC | CA2519823764 | BRCA2 | c.8565_8566insTC (p.Glu2856SerfsTer8) c.8196_8197insTC (p.Glu2733SerfsTer8) c.1032_1033insTC (p.Glu345SerfsTer8) c.8573_8574insTC (n.8573_8574insTC) c.1130_1131insTC c.63_64insTC (p.Glu22SerfsTer8) c.8469_8470insTC (p.Glu2824SerfsTer8) | |
13 | g.32371034G>A | CA387752810 | BRCA2 | c.8566G>A (p.Glu2856Lys) c.8197G>A (p.Glu2733Lys) c.1033G>A (p.Glu345Lys) c.8574G>A (n.8574G>A) c.1131G>A c.64G>A (p.Glu22Lys) c.8470G>A (p.Glu2824Lys) | dbSNP |
13 | g.32371034G>C | CA387752811 | BRCA2 | c.8566G>C (p.Glu2856Gln) c.8197G>C (p.Glu2733Gln) c.1033G>C (p.Glu345Gln) c.8574G>C (n.8574G>C) c.1131G>C c.64G>C (p.Glu22Gln) c.8470G>C (p.Glu2824Gln) | dbSNP |
13 | g.32371034G>T | CA387752812 | BRCA2 | c.8566G>T (p.Glu2856Ter) c.8197G>T (p.Glu2733Ter) c.1033G>T (p.Glu345Ter) c.8574G>T (n.8574G>T) c.1131G>T c.64G>T (p.Glu22Ter) c.8470G>T (p.Glu2824Ter) | |
13 | g.32371034_32371035delinsC | CA10576074 | BRCA2 | c.8566_8567delinsC (p.Glu2856ArgfsTer7) c.8197_8198delinsC (p.Glu2733ArgfsTer7) c.1033_1034delinsC (p.Glu345ArgfsTer7) c.8574_8575delinsC (n.8574_8575delinsC) c.1131_1132delinsC c.64_65delinsC (p.Glu22ArgfsTer7) c.8470_8471delinsC (p.Glu2824ArgfsTer7) | ClinVar dbSNP |
13 | g.32371034_32371039del | CA2515000285 | BRCA2 | c.8566_8571del (p.Glu2856_Ala2857del) c.8197_8202del (p.Glu2733_Ala2734del) c.1033_1038del (p.Glu345_Ala346del) c.8574_8579del (n.8574_8579del) c.1131_1136del c.64_69del (p.Glu22_Ala23del) c.8470_8475del (p.Glu2824_Ala2825del) | |
13 | g.32371035A= | CA2082816016 | BRCA2 | c.8567A= (p.Glu2856=) c.8198A= (p.Glu2733=) c.1034A= (p.Glu345=) c.8575A= (n.8575A=) c.1132A= c.65A= (p.Glu22=) c.8471A= (p.Glu2824=) | |
13 | g.32371035A>C | CA025712 | BRCA2 | c.8567A>C (p.Glu2856Ala) c.8198A>C (p.Glu2733Ala) c.1034A>C (p.Glu345Ala) c.8575A>C (n.8575A>C) c.1132A>C c.65A>C (p.Glu22Ala) c.8471A>C (p.Glu2824Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32371035A>G | CA387752813 | BRCA2 | c.8567A>G (p.Glu2856Gly) c.8198A>G (p.Glu2733Gly) c.1034A>G (p.Glu345Gly) c.8575A>G (n.8575A>G) c.1132A>G c.65A>G (p.Glu22Gly) c.8471A>G (p.Glu2824Gly) | dbSNP |
13 | g.32371035A>T | CA387752814 | BRCA2 | c.8567A>T (p.Glu2856Val) c.8198A>T (p.Glu2733Val) c.1034A>T (p.Glu345Val) c.8575A>T (n.8575A>T) c.1132A>T c.65A>T (p.Glu22Val) c.8471A>T (p.Glu2824Val) | ClinVar dbSNP |
13 | g.32371036G>A | CA16606451 | BRCA2 | c.8568G>A (p.Glu2856=) c.8199G>A (p.Glu2733=) c.1035G>A (p.Glu345=) c.8576G>A (n.8576G>A) c.1133G>A c.66G>A (p.Glu22=) c.8472G>A (p.Glu2824=) | ClinVar dbSNP |
13 | g.32371036G>C | CA387752815 | BRCA2 | c.8568G>C (p.Glu2856Asp) c.8199G>C (p.Glu2733Asp) c.1035G>C (p.Glu345Asp) c.8576G>C (n.8576G>C) c.1133G>C c.66G>C (p.Glu22Asp) c.8472G>C (p.Glu2824Asp) | ClinVar dbSNP |
13 | g.32371036G= | CA2082816025 | BRCA2 | c.8568G= (p.Glu2856=) c.8199G= (p.Glu2733=) c.1035G= (p.Glu345=) c.8576G= (n.8576G=) c.1133G= c.66G= (p.Glu22=) c.8472G= (p.Glu2824=) | |
13 | g.32371036G>T | CA10583143 | BRCA2 | c.8568G>T (p.Glu2856Asp) c.8199G>T (p.Glu2733Asp) c.1035G>T (p.Glu345Asp) c.8576G>T (n.8576G>T) c.1133G>T c.66G>T (p.Glu22Asp) c.8472G>T (p.Glu2824Asp) | ClinVar dbSNP |
13 | g.32371037del | CA2573149215 | BRCA2 | c.8569del (p.Ala2857ProfsTer6) c.8200del (p.Ala2734ProfsTer6) c.1036del (p.Ala346ProfsTer6) c.8577del (n.8577del) c.1134del c.67del (p.Ala23ProfsTer6) c.8473del (p.Ala2825ProfsTer6) | ClinVar dbSNP |
13 | g.32371037G>A | CA387752816 | BRCA2 | c.8569G>A (p.Ala2857Thr) c.8200G>A (p.Ala2734Thr) c.1036G>A (p.Ala346Thr) c.8577G>A (n.8577G>A) c.1134G>A c.67G>A (p.Ala23Thr) c.8473G>A (p.Ala2825Thr) | ClinVar dbSNP |
13 | g.32371037G>C | CA350121 | BRCA2 | c.8569G>C (p.Ala2857Pro) c.8200G>C (p.Ala2734Pro) c.1036G>C (p.Ala346Pro) c.8577G>C (n.8577G>C) c.1134G>C c.67G>C (p.Ala23Pro) c.8473G>C (p.Ala2825Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32371037G= | CA2082816045 | BRCA2 | c.8569G= (p.Ala2857=) c.8200G= (p.Ala2734=) c.1036G= (p.Ala346=) c.8577G= (n.8577G=) c.1134G= c.67G= (p.Ala23=) c.8473G= (p.Ala2825=) | |
13 | g.32371037G>T | CA025713 | BRCA2 | c.8569G>T (p.Ala2857Ser) c.8200G>T (p.Ala2734Ser) c.1036G>T (p.Ala346Ser) c.8577G>T (n.8577G>T) c.1134G>T c.67G>T (p.Ala23Ser) c.8473G>T (p.Ala2825Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32371037_32371038delinsGC | CA2082816053 | BRCA2 | c.8569_8570delinsGC (p.Ala2857=) c.8200_8201delinsGC (p.Ala2734=) c.1036_1037delinsGC (p.Ala346=) c.8577_8578delinsGC (n.8577_8578delinsGC) c.1134_1135delinsGC c.67_68delinsGC (p.Ala23=) c.8473_8474delinsGC (p.Ala2825=) | |
13 | g.32371037_32371044del | CA2511483729 | BRCA2 | c.8569_8576del (p.Ala2857LysfsTer9) c.8200_8207del (p.Ala2734LysfsTer9) c.1036_1043del (p.Ala346LysfsTer9) c.8577_8584del (n.8577_8584del) c.1134_1141del c.67_74del (p.Ala23LysfsTer9) c.8473_8480del (p.Ala2825LysfsTer9) | |
13 | g.32371038C>A | CA387752817 | BRCA2 | c.8570C>A (p.Ala2857Asp) c.8201C>A (p.Ala2734Asp) c.1037C>A (p.Ala346Asp) c.8578C>A (n.8578C>A) c.1135C>A c.68C>A (p.Ala23Asp) c.8474C>A (p.Ala2825Asp) | dbSNP |
13 | g.32371038C= | CA2082816065 | BRCA2 | c.8570C= (p.Ala2857=) c.8201C= (p.Ala2734=) c.1037C= (p.Ala346=) c.8578C= (n.8578C=) c.1135C= c.68C= (p.Ala23=) c.8474C= (p.Ala2825=) | |
13 | g.32371038C>G | CA387752818 | BRCA2 | c.8570C>G (p.Ala2857Gly) c.8201C>G (p.Ala2734Gly) c.1037C>G (p.Ala346Gly) c.8578C>G (n.8578C>G) c.1135C>G c.68C>G (p.Ala23Gly) c.8474C>G (p.Ala2825Gly) | dbSNP |
13 | g.32371038C>T | CA6941260 | BRCA2 | c.8570C>T (p.Ala2857Val) c.8201C>T (p.Ala2734Val) c.1037C>T (p.Ala346Val) c.8578C>T (n.8578C>T) c.1135C>T c.68C>T (p.Ala23Val) c.8474C>T (p.Ala2825Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32371040del | CA10589509 | BRCA2 | c.8572del (p.Gln2858AsnfsTer5) c.8203del (p.Gln2735AsnfsTer5) c.1039del (p.Gln347AsnfsTer5) c.8580del (n.8580del) c.1137del c.70del (p.Gln24AsnfsTer5) c.8476del (p.Gln2826AsnfsTer5) | ClinVar dbSNP |
13 | g.32371039C>A | CA483261524 | BRCA2 | c.8571C>A (p.Ala2857=) c.8202C>A (p.Ala2734=) c.1038C>A (p.Ala346=) c.8579C>A (n.8579C>A) c.1136C>A c.69C>A (p.Ala23=) c.8475C>A (p.Ala2825=) | ClinVar dbSNP |
13 | g.32371039C>G | CA483261525 | BRCA2 | c.8571C>G (p.Ala2857=) c.8202C>G (p.Ala2734=) c.1038C>G (p.Ala346=) c.8579C>G (n.8579C>G) c.1136C>G c.69C>G (p.Ala23=) c.8475C>G (p.Ala2825=) | dbSNP |
13 | g.32371039C>T | CA483261526 | BRCA2 | c.8571C>T (p.Ala2857=) c.8202C>T (p.Ala2734=) c.1038C>T (p.Ala346=) c.8579C>T (n.8579C>T) c.1136C>T c.69C>T (p.Ala23=) c.8475C>T (p.Ala2825=) | ClinVar dbSNP gnomAD v4 |
13 | g.32371040C>A | CA025715 | BRCA2 | c.8572C>A (p.Gln2858Lys) c.8203C>A (p.Gln2735Lys) c.1039C>A (p.Gln347Lys) c.8580C>A (n.8580C>A) c.1137C>A c.70C>A (p.Gln24Lys) c.8476C>A (p.Gln2826Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32371040C= | CA2082816082 | BRCA2 | c.8572C= (p.Gln2858=) c.8203C= (p.Gln2735=) c.1039C= (p.Gln347=) c.8580C= (n.8580C=) c.1137C= c.70C= (p.Gln24=) c.8476C= (p.Gln2826=) | |
13 | g.32371040C>G | CA387752819 | BRCA2 | c.8572C>G (p.Gln2858Glu) c.8203C>G (p.Gln2735Glu) c.1039C>G (p.Gln347Glu) c.8580C>G (n.8580C>G) c.1137C>G c.70C>G (p.Gln24Glu) c.8476C>G (p.Gln2826Glu) | |
13 | g.32371040C>T | CA025716 | BRCA2 | c.8572C>T (p.Gln2858Ter) c.8203C>T (p.Gln2735Ter) c.1039C>T (p.Gln347Ter) c.8580C>T (n.8580C>T) c.1137C>T c.70C>T (p.Gln24Ter) c.8476C>T (p.Gln2826Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32371041A= | CA2082816095 | BRCA2 | c.8573A= (p.Gln2858=) c.8204A= (p.Gln2735=) c.1040A= (p.Gln347=) c.8581A= (n.8581A=) c.1138A= c.71A= (p.Gln24=) c.8477A= (p.Gln2826=) | |
13 | g.32371041A>C | CA387752820 | BRCA2 | c.8573A>C (p.Gln2858Pro) c.8204A>C (p.Gln2735Pro) c.1040A>C (p.Gln347Pro) c.8581A>C (n.8581A>C) c.1138A>C c.71A>C (p.Gln24Pro) c.8477A>C (p.Gln2826Pro) | ClinVar dbSNP |
13 | g.32371041A>G | CA025717 | BRCA2 | c.8573A>G (p.Gln2858Arg) c.8204A>G (p.Gln2735Arg) c.1040A>G (p.Gln347Arg) c.8581A>G (n.8581A>G) c.1138A>G c.71A>G (p.Gln24Arg) c.8477A>G (p.Gln2826Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32371041A>T | CA387752821 | BRCA2 | c.8573A>T (p.Gln2858Leu) c.8204A>T (p.Gln2735Leu) c.1040A>T (p.Gln347Leu) c.8581A>T (n.8581A>T) c.1138A>T c.71A>T (p.Gln24Leu) c.8477A>T (p.Gln2826Leu) | dbSNP |
13 | g.32371042A= | CA2082816116 | BRCA2 | c.8574A= (p.Gln2858=) c.8205A= (p.Gln2735=) c.1041A= (p.Gln347=) c.8582A= (n.8582A=) c.1139A= c.72A= (p.Gln24=) c.8478A= (p.Gln2826=) | |
13 | g.32371042A>C | CA387752822 | BRCA2 | c.8574A>C (p.Gln2858His) c.8205A>C (p.Gln2735His) c.1041A>C (p.Gln347His) c.8582A>C (n.8582A>C) c.1139A>C c.72A>C (p.Gln24His) c.8478A>C (p.Gln2826His) | dbSNP |
13 | g.32371042A>G | CA483261527 | BRCA2 | c.8574A>G (p.Gln2858=) c.8205A>G (p.Gln2735=) c.1041A>G (p.Gln347=) c.8582A>G (n.8582A>G) c.1139A>G c.72A>G (p.Gln24=) c.8478A>G (p.Gln2826=) | dbSNP |
13 | g.32371042A>T | CA387752823 | BRCA2 | c.8574A>T (p.Gln2858His) c.8205A>T (p.Gln2735His) c.1041A>T (p.Gln347His) c.8582A>T (n.8582A>T) c.1139A>T c.72A>T (p.Gln24His) c.8478A>T (p.Gln2826His) | dbSNP |
13 | g.32371042_32371043delinsAC | CA2082816114 | BRCA2 | c.8574_8575delinsAC (p.Gln2858=) c.8205_8206delinsAC (p.Gln2735=) c.1041_1042delinsAC (p.Gln347=) c.8582_8583delinsAC (n.8582_8583delinsAC) c.1139_1140delinsAC c.72_73delinsAC (p.Gln24=) c.8478_8479delinsAC (p.Gln2826=) | |
13 | g.32371043del | CA025719 | BRCA2 | c.8575del (p.Gln2859LysfsTer4) c.8206del (p.Gln2736LysfsTer4) c.1042del (p.Gln348LysfsTer4) c.8583del (n.8583del) c.1140del c.73del (p.Gln25LysfsTer4) c.8479del (p.Gln2827LysfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32371043C>A | CA387752824 | BRCA2 | c.8575C>A (p.Gln2859Lys) c.8206C>A (p.Gln2736Lys) c.1042C>A (p.Gln348Lys) c.8583C>A (n.8583C>A) c.1140C>A c.73C>A (p.Gln25Lys) c.8479C>A (p.Gln2827Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.32371043C= | CA2082816129 | BRCA2 | c.8575C= (p.Gln2859=) c.8206C= (p.Gln2736=) c.1042C= (p.Gln348=) c.8583C= (n.8583C=) c.1140C= c.73C= (p.Gln25=) c.8479C= (p.Gln2827=) | |
13 | g.32371043C>G | CA387752825 | BRCA2 | c.8575C>G (p.Gln2859Glu) c.8206C>G (p.Gln2736Glu) c.1042C>G (p.Gln348Glu) c.8583C>G (n.8583C>G) c.1140C>G c.73C>G (p.Gln25Glu) c.8479C>G (p.Gln2827Glu) | |
13 | g.32371043C>T | CA025718 | BRCA2 | c.8575C>T (p.Gln2859Ter) c.8206C>T (p.Gln2736Ter) c.1042C>T (p.Gln348Ter) c.8583C>T (n.8583C>T) c.1140C>T c.73C>T (p.Gln25Ter) c.8479C>T (p.Gln2827Ter) | ClinVar dbSNP |
13 | g.32371043dup | CA2798730082 | BRCA2 | c.8575dup (p.Gln2859ProfsTer10) c.8206dup (p.Gln2736ProfsTer10) c.1042dup (p.Gln348ProfsTer10) c.8583dup (n.8583dup) c.1140dup c.73dup (p.Gln25ProfsTer10) c.8479dup (p.Gln2827ProfsTer10) | |
13 | g.32371043_32371045delinsCAA | CA2082816134 | BRCA2 | c.8575_8577delinsCAA (p.Gln2859=) c.8206_8208delinsCAA (p.Gln2736=) c.1042_1044delinsCAA (p.Gln348=) c.8583_8585delinsCAA (n.8583_8585delinsCAA) c.1140_1142delinsCAA c.73_75delinsCAA (p.Gln25=) c.8479_8481delinsCAA (p.Gln2827=) | |
13 | g.32371044A>C | CA387752827 | BRCA2 | c.8576A>C (p.Gln2859Pro) c.8207A>C (p.Gln2736Pro) c.1043A>C (p.Gln348Pro) c.8584A>C (n.8584A>C) c.1141A>C c.74A>C (p.Gln25Pro) c.8480A>C (p.Gln2827Pro) | ClinVar dbSNP |
13 | g.32371044A>G | CA387752826 | BRCA2 | c.8576A>G (p.Gln2859Arg) c.8207A>G (p.Gln2736Arg) c.1043A>G (p.Gln348Arg) c.8584A>G (n.8584A>G) c.1141A>G c.74A>G (p.Gln25Arg) c.8480A>G (p.Gln2827Arg) | ClinVar dbSNP |
13 | g.32371044A>T | CA387752828 | BRCA2 | c.8576A>T (p.Gln2859Leu) c.8207A>T (p.Gln2736Leu) c.1043A>T (p.Gln348Leu) c.8584A>T (n.8584A>T) c.1141A>T c.74A>T (p.Gln25Leu) c.8480A>T (p.Gln2827Leu) | |
13 | g.32371047del | CA025721 | BRCA2 | c.8579del (p.Lys2860ArgfsTer3) c.8210del (p.Lys2737ArgfsTer3) c.1046del (p.Lys349ArgfsTer3) c.8587del (n.8587del) c.1144del c.77del (p.Lys26ArgfsTer3) c.8483del (p.Lys2828ArgfsTer3) | ClinVar dbSNP |
13 | g.32371046_32371047del | CA025720 | BRCA2 | c.8578_8579del (p.Lys2860GlufsTer8) c.8209_8210del (p.Lys2737GlufsTer8) c.1045_1046del (p.Lys349GlufsTer8) c.8586_8587del (n.8586_8587del) c.1143_1144del c.76_77del (p.Lys26GlufsTer8) c.8482_8483del (p.Lys2828GlufsTer8) | ClinVar dbSNP |
13 | g.32371045A>C | CA387752830 | BRCA2 | c.8577A>C (p.Gln2859His) c.8208A>C (p.Gln2736His) c.1044A>C (p.Gln348His) c.8585A>C (n.8585A>C) c.1142A>C c.75A>C (p.Gln25His) c.8481A>C (p.Gln2827His) | ClinVar dbSNP |
13 | g.32371045A>G | CA483261529 | BRCA2 | c.8577A>G (p.Gln2859=) c.8208A>G (p.Gln2736=) c.1044A>G (p.Gln348=) c.8585A>G (n.8585A>G) c.1142A>G c.75A>G (p.Gln25=) c.8481A>G (p.Gln2827=) | ClinVar dbSNP |
13 | g.32371045A>T | CA387752829 | BRCA2 | c.8577A>T (p.Gln2859His) c.8208A>T (p.Gln2736His) c.1044A>T (p.Gln348His) c.8585A>T (n.8585A>T) c.1142A>T c.75A>T (p.Gln25His) c.8481A>T (p.Gln2827His) | dbSNP |
13 | g.32371046A>C | CA387752831 | BRCA2 | c.8578A>C (p.Lys2860Gln) c.8209A>C (p.Lys2737Gln) c.1045A>C (p.Lys349Gln) c.8586A>C (n.8586A>C) c.1143A>C c.76A>C (p.Lys26Gln) c.8482A>C (p.Lys2828Gln) | |
13 | g.32371046A>G | CA387752833 | BRCA2 | c.8578A>G (p.Lys2860Glu) c.8209A>G (p.Lys2737Glu) c.1045A>G (p.Lys349Glu) c.8586A>G (n.8586A>G) c.1143A>G c.76A>G (p.Lys26Glu) c.8482A>G (p.Lys2828Glu) | |
13 | g.32371046A>T | CA387752832 | BRCA2 | c.8578A>T (p.Lys2860Ter) c.8209A>T (p.Lys2737Ter) c.1045A>T (p.Lys349Ter) c.8586A>T (n.8586A>T) c.1143A>T c.76A>T (p.Lys26Ter) c.8482A>T (p.Lys2828Ter) | |
13 | g.32371046_32371048delinsAAG | CA2082816148 | BRCA2 | c.8578_8580delinsAAG (p.Lys2860=) c.8209_8211delinsAAG (p.Lys2737=) c.1045_1047delinsAAG (p.Lys349=) c.8586_8588delinsAAG (n.8586_8588delinsAAG) c.1143_1145delinsAAG c.76_78delinsAAG (p.Lys26=) c.8482_8484delinsAAG (p.Lys2828=) | |
13 | g.32371046_32371047insTTT | CA2507872694 | BRCA2 | c.8578_8579insTTT (p.Lys2860IlefsTer2) c.8209_8210insTTT (p.Lys2737IlefsTer2) c.1045_1046insTTT (p.Lys349IlefsTer2) c.8586_8587insTTT (n.8586_8587insTTT) c.1143_1144insTTT c.76_77insTTT (p.Lys26IlefsTer2) c.8482_8483insTTT (p.Lys2828IlefsTer2) | |
13 | g.32371047A>C | CA387752834 | BRCA2 | c.8579A>C (p.Lys2860Thr) c.8210A>C (p.Lys2737Thr) c.1046A>C (p.Lys349Thr) c.8587A>C (n.8587A>C) c.1144A>C c.77A>C (p.Lys26Thr) c.8483A>C (p.Lys2828Thr) | dbSNP |
13 | g.32371047A>G | CA387752835 | BRCA2 | c.8579A>G (p.Lys2860Arg) c.8210A>G (p.Lys2737Arg) c.1046A>G (p.Lys349Arg) c.8587A>G (n.8587A>G) c.1144A>G c.77A>G (p.Lys26Arg) c.8483A>G (p.Lys2828Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32371047A>T | CA387752836 | BRCA2 | c.8579A>T (p.Lys2860Met) c.8210A>T (p.Lys2737Met) c.1046A>T (p.Lys349Met) c.8587A>T (n.8587A>T) c.1144A>T c.77A>T (p.Lys26Met) c.8483A>T (p.Lys2828Met) | |
13 | g.32371047_32371048insACCCAAACACACCCAACACA | CA2798730083 | BRCA2 | c.8579_8580insACCCAAACACACCCAACACA (p.Arg2861ProfsTer9) c.8210_8211insACCCAAACACACCCAACACA (p.Arg2738ProfsTer9) c.1046_1047insACCCAAACACACCCAACACA (p.Arg350ProfsTer9) c.8587_8588insACCCAAACACACCCAACACA (n.8587_8588insACCCAAACACACCCAACACA) c.1144_1145insACCCAAACACACCCAACACA c.77_78insACCCAAACACACCCAACACA (p.Arg27ProfsTer9) c.8483_8484insACCCAAACACACCCAACACA (p.Arg2829ProfsTer9) | |
13 | g.32371050_32371051del | CA915946899 | BRCA2 | c.8582_8583del (p.Arg2861ThrfsTer7) c.8213_8214del (p.Arg2738ThrfsTer7) c.1049_1050del (p.Arg350ThrfsTer7) c.8590_8591del (n.8590_8591del) c.1147_1148del c.80_81del (p.Arg27ThrfsTer7) c.8486_8487del (p.Arg2829ThrfsTer7) | ClinVar dbSNP |
13 | g.32371047_32371048insTCCACCT | CA2514116880 | BRCA2 | c.8579_8580insTCCACCT (p.Lys2860AsnfsTer11) c.8210_8211insTCCACCT (p.Lys2737AsnfsTer11) c.1046_1047insTCCACCT (p.Lys349AsnfsTer11) c.8587_8588insTCCACCT (n.8587_8588insTCCACCT) c.1144_1145insTCCACCT c.77_78insTCCACCT (p.Lys26AsnfsTer11) c.8483_8484insTCCACCT (p.Lys2828AsnfsTer11) | |
13 | g.32371048G>A | CA483261530 | BRCA2 | c.8580G>A (p.Lys2860=) c.8211G>A (p.Lys2737=) c.1047G>A (p.Lys349=) c.8588G>A (n.8588G>A) c.1145G>A c.78G>A (p.Lys26=) c.8484G>A (p.Lys2828=) | dbSNP |
13 | g.32371048G>C | CA387752837 | BRCA2 | c.8580G>C (p.Lys2860Asn) c.8211G>C (p.Lys2737Asn) c.1047G>C (p.Lys349Asn) c.8588G>C (n.8588G>C) c.1145G>C c.78G>C (p.Lys26Asn) c.8484G>C (p.Lys2828Asn) | dbSNP |
13 | g.32371048G>T | CA387752838 | BRCA2 | c.8580G>T (p.Lys2860Asn) c.8211G>T (p.Lys2737Asn) c.1047G>T (p.Lys349Asn) c.8588G>T (n.8588G>T) c.1145G>T c.78G>T (p.Lys26Asn) c.8484G>T (p.Lys2828Asn) | |
13 | g.32371048_32371050del | CA2551397038 | BRCA2 | c.8580_8582del (p.Arg2861del) c.8211_8213del (p.Arg2738del) c.1047_1049del (p.Arg350del) c.8588_8590del (n.8588_8590del) c.1145_1147del c.78_80del (p.Arg27del) c.8484_8486del (p.Arg2829del) | |
13 | g.32371049A= | CA2082816168 | BRCA2 | c.8581A= (p.Arg2861=) c.8212A= (p.Arg2738=) c.1048A= (p.Arg350=) c.8589A= (n.8589A=) c.1146A= c.79A= (p.Arg27=) c.8485A= (p.Arg2829=) | |
13 | g.32371049A>C | CA483261531 | BRCA2 | c.8581A>C (p.Arg2861=) c.8212A>C (p.Arg2738=) c.1048A>C (p.Arg350=) c.8589A>C (n.8589A>C) c.1146A>C c.79A>C (p.Arg27=) c.8485A>C (p.Arg2829=) | |
13 | g.32371049A>G | CA387752839 | BRCA2 | c.8581A>G (p.Arg2861Gly) c.8212A>G (p.Arg2738Gly) c.1048A>G (p.Arg350Gly) c.8589A>G (n.8589A>G) c.1146A>G c.79A>G (p.Arg27Gly) c.8485A>G (p.Arg2829Gly) | ClinVar |
13 | g.32371049A>T | CA025722 | BRCA2 | c.8581A>T (p.Arg2861Ter) c.8212A>T (p.Arg2738Ter) c.1048A>T (p.Arg350Ter) c.8589A>T (n.8589A>T) c.1146A>T c.79A>T (p.Arg27Ter) c.8485A>T (p.Arg2829Ter) | ClinVar dbSNP |
13 | g.32371050G>A | CA387752840 | BRCA2 | c.8582G>A (p.Arg2861Lys) c.8213G>A (p.Arg2738Lys) c.1049G>A (p.Arg350Lys) c.8590G>A (n.8590G>A) c.1147G>A c.80G>A (p.Arg27Lys) c.8486G>A (p.Arg2829Lys) | dbSNP |
13 | g.32371050G>C | CA387752841 | BRCA2 | c.8582G>C (p.Arg2861Thr) c.8213G>C (p.Arg2738Thr) c.1049G>C (p.Arg350Thr) c.8590G>C (n.8590G>C) c.1147G>C c.80G>C (p.Arg27Thr) c.8486G>C (p.Arg2829Thr) | dbSNP |
13 | g.32371050G= | CA2082816178 | BRCA2 | c.8582G= (p.Arg2861=) c.8213G= (p.Arg2738=) c.1049G= (p.Arg350=) c.8590G= (n.8590G=) c.1147G= c.80G= (p.Arg27=) c.8486G= (p.Arg2829=) | |
13 | g.32371050G>T | CA387752842 | BRCA2 | c.8582G>T (p.Arg2861Ile) c.8213G>T (p.Arg2738Ile) c.1049G>T (p.Arg350Ile) c.8590G>T (n.8590G>T) c.1147G>T c.80G>T (p.Arg27Ile) c.8486G>T (p.Arg2829Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32371050_32371052dup | CA915946900 | BRCA2 | c.8582_8584dup (p.Arg2861_Leu2862insArg) c.8213_8215dup (p.Arg2738_Leu2739insArg) c.1049_1051dup (p.Arg350_Leu351insArg) c.8590_8592dup (n.8590_8592dup) c.1147_1149dup c.80_82dup (p.Arg27_Leu28insArg) c.8486_8488dup (p.Arg2829_Leu2830insArg) | ClinVar dbSNP |
13 | g.32371051A>C | CA387752843 | BRCA2 | c.8583A>C (p.Arg2861Ser) c.8214A>C (p.Arg2738Ser) c.1050A>C (p.Arg350Ser) c.8591A>C (n.8591A>C) c.1148A>C c.81A>C (p.Arg27Ser) c.8487A>C (p.Arg2829Ser) | |
13 | g.32371051A>G | CA483261535 | BRCA2 | c.8583A>G (p.Arg2861=) c.8214A>G (p.Arg2738=) c.1050A>G (p.Arg350=) c.8591A>G (n.8591A>G) c.1148A>G c.81A>G (p.Arg27=) c.8487A>G (p.Arg2829=) | ClinVar dbSNP gnomAD v4 |
13 | g.32371051A>T | CA387752844 | BRCA2 | c.8583A>T (p.Arg2861Ser) c.8214A>T (p.Arg2738Ser) c.1050A>T (p.Arg350Ser) c.8591A>T (n.8591A>T) c.1148A>T c.81A>T (p.Arg27Ser) c.8487A>T (p.Arg2829Ser) | dbSNP |
13 | g.32371051_32371057del | CA2536684871 | BRCA2 | c.8583_8589del (p.Leu2862ProfsTer27) c.8583_8589del (p.Leu2862ProfsTer22) c.8214_8220del (p.Leu2739ProfsTer27) c.8583_8589del (p.Leu2862ProfsTer28) c.1050_1056del (p.Leu351ProfsTer27) c.8591_8597del (n.8591_8597del) c.1148_1154del c.81_87del (p.Leu28ProfsTer22) c.8487_8493del (p.Leu2830ProfsTer27) | |
13 | g.32371052C>A | CA387752845 | BRCA2 | c.8584C>A (p.Leu2862Ile) c.8215C>A (p.Leu2739Ile) c.1051C>A (p.Leu351Ile) c.8592C>A (n.8592C>A) c.1149C>A c.82C>A (p.Leu28Ile) c.8488C>A (p.Leu2830Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32371052C= | CA2082816187 | BRCA2 | c.8584C= (p.Leu2862=) c.8215C= (p.Leu2739=) c.1051C= (p.Leu351=) c.8592C= (n.8592C=) c.1149C= c.82C= (p.Leu28=) c.8488C= (p.Leu2830=) | |
13 | g.32371052C>G | CA387752846 | BRCA2 | c.8584C>G (p.Leu2862Val) c.8215C>G (p.Leu2739Val) c.1051C>G (p.Leu351Val) c.8592C>G (n.8592C>G) c.1149C>G c.82C>G (p.Leu28Val) c.8488C>G (p.Leu2830Val) | dbSNP |
13 | g.32371052C>T | CA483261537 | BRCA2 | c.8584C>T (p.Leu2862=) c.8215C>T (p.Leu2739=) c.1051C>T (p.Leu351=) c.8592C>T (n.8592C>T) c.1149C>T c.82C>T (p.Leu28=) c.8488C>T (p.Leu2830=) | ClinVar dbSNP gnomAD v4 |
13 | g.32371052_32371054delinsCTA | CA2082816188 | BRCA2 | c.8584_8586delinsCTA (p.Leu2862=) c.8215_8217delinsCTA (p.Leu2739=) c.1051_1053delinsCTA (p.Leu351=) c.8592_8594delinsCTA (n.8592_8594delinsCTA) c.1149_1151delinsCTA c.82_84delinsCTA (p.Leu28=) c.8488_8490delinsCTA (p.Leu2830=) | |
13 | g.32371053T>A | CA387752847 | BRCA2 | c.8585T>A (p.Leu2862Gln) c.8216T>A (p.Leu2739Gln) c.1052T>A (p.Leu351Gln) c.8593T>A (n.8593T>A) c.1150T>A c.83T>A (p.Leu28Gln) c.8489T>A (p.Leu2830Gln) | ClinVar dbSNP |
13 | g.32371053T>C | CA387752849 | BRCA2 | c.8585T>C (p.Leu2862Pro) c.8216T>C (p.Leu2739Pro) c.1052T>C (p.Leu351Pro) c.8593T>C (n.8593T>C) c.1150T>C c.83T>C (p.Leu28Pro) c.8489T>C (p.Leu2830Pro) | |
13 | g.32371053T>G | CA387752848 | BRCA2 | c.8585T>G (p.Leu2862Arg) c.8216T>G (p.Leu2739Arg) c.1052T>G (p.Leu351Arg) c.8593T>G (n.8593T>G) c.1150T>G c.83T>G (p.Leu28Arg) c.8489T>G (p.Leu2830Arg) | |
13 | g.32371053T= | CA2082816206 | BRCA2 | c.8585T= (p.Leu2862=) c.8216T= (p.Leu2739=) c.1052T= (p.Leu351=) c.8593T= (n.8593T=) c.1150T= c.83T= (p.Leu28=) c.8489T= (p.Leu2830=) | |
13 | g.32371053dup | CA025723 | BRCA2 | c.8585dup (p.Glu2863ArgfsTer6) c.8216dup (p.Glu2740ArgfsTer6) c.1052dup (p.Glu352ArgfsTer6) c.8593dup (n.8593dup) c.1150dup c.83dup (p.Glu29ArgfsTer6) c.8489dup (p.Glu2831ArgfsTer6) | ClinVar dbSNP gnomAD v4 |
13 | g.32371053_32371054del | CA10583144 | BRCA2 | c.8585_8586del (p.Leu2862ArgfsTer6) c.8216_8217del (p.Leu2739ArgfsTer6) c.1052_1053del (p.Leu351ArgfsTer6) c.8593_8594del (n.8593_8594del) c.1150_1151del c.83_84del (p.Leu28ArgfsTer6) c.8489_8490del (p.Leu2830ArgfsTer6) | ClinVar dbSNP |
13 | g.32371053_32371054delinsAG | CA658656383 | BRCA2 | c.8585_8586delinsAG (p.Leu2862Gln) c.8216_8217delinsAG (p.Leu2739Gln) c.1052_1053delinsAG (p.Leu351Gln) c.8593_8594delinsAG (n.8593_8594delinsAG) c.1150_1151delinsAG c.83_84delinsAG (p.Leu28Gln) c.8489_8490delinsAG (p.Leu2830Gln) | ClinVar dbSNP |
13 | g.32371053_32371054delinsTA | CA2082816214 | BRCA2 | c.8585_8586delinsTA (p.Leu2862=) c.8216_8217delinsTA (p.Leu2739=) c.1052_1053delinsTA (p.Leu351=) c.8593_8594delinsTA (n.8593_8594delinsTA) c.1150_1151delinsTA c.83_84delinsTA (p.Leu28=) c.8489_8490delinsTA (p.Leu2830=) | |
13 | g.32371054A= | CA2082816235 | BRCA2 | c.8586A= (p.Leu2862=) c.8217A= (p.Leu2739=) c.1053A= (p.Leu351=) c.8594A= (n.8594A=) c.1151A= c.84A= (p.Leu28=) c.8490A= (p.Leu2830=) | |
13 | g.32371054A>C | CA483261541 | BRCA2 | c.8586A>C (p.Leu2862=) c.8217A>C (p.Leu2739=) c.1053A>C (p.Leu351=) c.8594A>C (n.8594A>C) c.1151A>C c.84A>C (p.Leu28=) c.8490A>C (p.Leu2830=) | |
13 | g.32371054A>G | CA483261539 | BRCA2 | c.8586A>G (p.Leu2862=) c.8217A>G (p.Leu2739=) c.1053A>G (p.Leu351=) c.8594A>G (n.8594A>G) c.1151A>G c.84A>G (p.Leu28=) c.8490A>G (p.Leu2830=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32371054A>T | CA483261543 | BRCA2 | c.8586A>T (p.Leu2862=) c.8217A>T (p.Leu2739=) c.1053A>T (p.Leu351=) c.8594A>T (n.8594A>T) c.1151A>T c.84A>T (p.Leu28=) c.8490A>T (p.Leu2830=) | ClinVar dbSNP |
13 | g.32371056_32371058dup | CA025724 | BRCA2 | c.8588_8590dup (p.Glu2863_Ala2864insGlu) c.8219_8221dup (p.Glu2740_Ala2741insGlu) c.1055_1057dup (p.Glu352_Ala353insGlu) c.8596_8598dup (n.8596_8598dup) c.1153_1155dup c.86_88dup (p.Glu29_Ala30insGlu) c.8492_8494dup (p.Glu2831_Ala2832insGlu) | ClinVar dbSNP gnomAD v4 |
13 | g.32371055G>A | CA387752850 | BRCA2 | c.8587G>A (p.Glu2863Lys) c.8218G>A (p.Glu2740Lys) c.1054G>A (p.Glu352Lys) c.8595G>A (n.8595G>A) c.1152G>A c.85G>A (p.Glu29Lys) c.8491G>A (p.Glu2831Lys) | dbSNP |
13 | g.32371055G>C | CA387752851 | BRCA2 | c.8587G>C (p.Glu2863Gln) c.8218G>C (p.Glu2740Gln) c.1054G>C (p.Glu352Gln) c.8595G>C (n.8595G>C) c.1152G>C c.85G>C (p.Glu29Gln) c.8491G>C (p.Glu2831Gln) | ClinVar dbSNP |
13 | g.32371055G= | CA2082816249 | BRCA2 | c.8587G= (p.Glu2863=) c.8218G= (p.Glu2740=) c.1054G= (p.Glu352=) c.8595G= (n.8595G=) c.1152G= c.85G= (p.Glu29=) c.8491G= (p.Glu2831=) | |
13 | g.32371055G>T | CA387752852 | BRCA2 | c.8587G>T (p.Glu2863Ter) c.8218G>T (p.Glu2740Ter) c.1054G>T (p.Glu352Ter) c.8595G>T (n.8595G>T) c.1152G>T c.85G>T (p.Glu29Ter) c.8491G>T (p.Glu2831Ter) | dbSNP COSMIC COSMIC |
13 | g.32371055dup | CA2499222338 | BRCA2 | c.8587dup (p.Glu2863GlyfsTer6) c.8218dup (p.Glu2740GlyfsTer6) c.1054dup (p.Glu352GlyfsTer6) c.8595dup (n.8595dup) c.1152dup c.85dup (p.Glu29GlyfsTer6) c.8491dup (p.Glu2831GlyfsTer6) | ClinVar |
13 | g.32371056A= | CA2082816259 | BRCA2 | c.8588A= (p.Glu2863=) c.8219A= (p.Glu2740=) c.1055A= (p.Glu352=) c.8596A= (n.8596A=) c.1153A= c.86A= (p.Glu29=) c.8492A= (p.Glu2831=) | |
13 | g.32371056A>C | CA387752853 | BRCA2 | c.8588A>C (p.Glu2863Ala) c.8219A>C (p.Glu2740Ala) c.1055A>C (p.Glu352Ala) c.8596A>C (n.8596A>C) c.1153A>C c.86A>C (p.Glu29Ala) c.8492A>C (p.Glu2831Ala) | |
13 | g.32371056A>G | CA387752854 | BRCA2 | c.8588A>G (p.Glu2863Gly) c.8219A>G (p.Glu2740Gly) c.1055A>G (p.Glu352Gly) c.8596A>G (n.8596A>G) c.1153A>G c.86A>G (p.Glu29Gly) c.8492A>G (p.Glu2831Gly) | |
13 | g.32371056A>T | CA387752855 | BRCA2 | c.8588A>T (p.Glu2863Val) c.8219A>T (p.Glu2740Val) c.1055A>T (p.Glu352Val) c.8596A>T (n.8596A>T) c.1153A>T c.86A>T (p.Glu29Val) c.8492A>T (p.Glu2831Val) | ClinVar dbSNP |
13 | g.32371057dup | CA658761177 | BRCA2 | c.8589dup (p.Ala2864SerfsTer5) c.8220dup (p.Ala2741SerfsTer5) c.1056dup (p.Ala353SerfsTer5) c.8597dup (n.8597dup) c.1154dup c.87dup (p.Ala30SerfsTer5) c.8493dup (p.Ala2832SerfsTer5) | ClinVar dbSNP gnomAD v4 |
13 | g.32371057del | CA2838032550 | BRCA2 | c.8589del (p.Ala2864ProfsTer27) c.8589del (p.Ala2864ProfsTer22) c.8220del (p.Ala2741ProfsTer27) c.8589del (p.Ala2864ProfsTer28) c.1056del (p.Ala353ProfsTer27) c.8597del (n.8597del) c.1154del c.87del (p.Ala30ProfsTer22) c.8493del (p.Ala2832ProfsTer27) | |
13 | g.32371057A>C | CA387752856 | BRCA2 | c.8589A>C (p.Glu2863Asp) c.8220A>C (p.Glu2740Asp) c.1056A>C (p.Glu352Asp) c.8597A>C (n.8597A>C) c.1154A>C c.87A>C (p.Glu29Asp) c.8493A>C (p.Glu2831Asp) | |
13 | g.32371057A>G | CA483261544 | BRCA2 | c.8589A>G (p.Glu2863=) c.8220A>G (p.Glu2740=) c.1056A>G (p.Glu352=) c.8597A>G (n.8597A>G) c.1154A>G c.87A>G (p.Glu29=) c.8493A>G (p.Glu2831=) | ClinVar |
13 | g.32371057A>T | CA387752857 | BRCA2 | c.8589A>T (p.Glu2863Asp) c.8220A>T (p.Glu2740Asp) c.1056A>T (p.Glu352Asp) c.8597A>T (n.8597A>T) c.1154A>T c.87A>T (p.Glu29Asp) c.8493A>T (p.Glu2831Asp) | dbSNP |
13 | g.32371057_32371060delinsAGCC | CA2082816266 | BRCA2 | c.8589_8592delinsAGCC (p.Glu2863=) c.8220_8223delinsAGCC (p.Glu2740=) c.1056_1059delinsAGCC (p.Glu352=) c.8597_8600delinsAGCC (n.8597_8600delinsAGCC) c.1154_1157delinsAGCC c.87_90delinsAGCC (p.Glu29=) c.8493_8496delinsAGCC (p.Glu2831=) | |
13 | g.32371058G>A | CA387752860 | BRCA2 | c.8590G>A (p.Ala2864Thr) c.8221G>A (p.Ala2741Thr) c.1057G>A (p.Ala353Thr) c.8598G>A (n.8598G>A) c.1155G>A c.88G>A (p.Ala30Thr) c.8494G>A (p.Ala2832Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32371058G>C | CA387752859 | BRCA2 | c.8590G>C (p.Ala2864Pro) c.8221G>C (p.Ala2741Pro) c.1057G>C (p.Ala353Pro) c.8598G>C (n.8598G>C) c.1155G>C c.88G>C (p.Ala30Pro) c.8494G>C (p.Ala2832Pro) | dbSNP |
13 | g.32371058G= | CA2082816275 | BRCA2 | c.8590G= (p.Ala2864=) c.8221G= (p.Ala2741=) c.1057G= (p.Ala353=) c.8598G= (n.8598G=) c.1155G= c.88G= (p.Ala30=) c.8494G= (p.Ala2832=) | |
13 | g.32371058G>T | CA387752858 | BRCA2 | c.8590G>T (p.Ala2864Ser) c.8221G>T (p.Ala2741Ser) c.1057G>T (p.Ala353Ser) c.8598G>T (n.8598G>T) c.1155G>T c.88G>T (p.Ala30Ser) c.8494G>T (p.Ala2832Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32371058_32371059delinsGC | CA2082816272 | BRCA2 | c.8590_8591delinsGC (p.Ala2864=) c.8221_8222delinsGC (p.Ala2741=) c.1057_1058delinsGC (p.Ala353=) c.8598_8599delinsGC (n.8598_8599delinsGC) c.1155_1156delinsGC c.88_89delinsGC (p.Ala30=) c.8494_8495delinsGC (p.Ala2832=) | |
13 | g.32371058_32371060del | CA658656384 | BRCA2 | c.8590_8592del (p.Ala2864del) c.8221_8223del (p.Ala2741del) c.1057_1059del (p.Ala353del) c.8598_8600del (n.8598_8600del) c.1155_1157del c.88_90del (p.Ala30del) c.8494_8496del (p.Ala2832del) | ClinVar dbSNP gnomAD v4 |
13 | g.32371059C>A | CA387752862 | BRCA2 | c.8591C>A (p.Ala2864Asp) c.8222C>A (p.Ala2741Asp) c.1058C>A (p.Ala353Asp) c.8599C>A (n.8599C>A) c.1156C>A c.89C>A (p.Ala30Asp) c.8495C>A (p.Ala2832Asp) | ClinVar dbSNP |
13 | g.32371059C= | CA2082816289 | BRCA2 | c.8591C= (p.Ala2864=) c.8222C= (p.Ala2741=) c.1058C= (p.Ala353=) c.8599C= (n.8599C=) c.1156C= c.89C= (p.Ala30=) c.8495C= (p.Ala2832=) | |
13 | g.32371059C>G | CA387752861 | BRCA2 | c.8591C>G (p.Ala2864Gly) c.8222C>G (p.Ala2741Gly) c.1058C>G (p.Ala353Gly) c.8599C>G (n.8599C>G) c.1156C>G c.89C>G (p.Ala30Gly) c.8495C>G (p.Ala2832Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32371059C>T | CA025725 | BRCA2 | c.8591C>T (p.Ala2864Val) c.8222C>T (p.Ala2741Val) c.1058C>T (p.Ala353Val) c.8599C>T (n.8599C>T) c.1156C>T c.89C>T (p.Ala30Val) c.8495C>T (p.Ala2832Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32371060del | CA658823597 | BRCA2 | c.8592del (p.Leu2865TyrfsTer26) c.8592del (p.Leu2865TyrfsTer21) c.8223del (p.Leu2742TyrfsTer26) c.8592del (p.Leu2865TyrfsTer27) c.1059del (p.Leu354TyrfsTer26) c.8600del (n.8600del) c.1157del c.90del (p.Leu31TyrfsTer21) c.8496del (p.Leu2833TyrfsTer26) | ClinVar dbSNP |
13 | g.32371060C>A | CA483261545 | BRCA2 | c.8592C>A (p.Ala2864=) c.8223C>A (p.Ala2741=) c.1059C>A (p.Ala353=) c.8600C>A (n.8600C>A) c.1157C>A c.90C>A (p.Ala30=) c.8496C>A (p.Ala2832=) | dbSNP |
13 | g.32371060C= | CA2082816305 | BRCA2 | c.8592C= (p.Ala2864=) c.8223C= (p.Ala2741=) c.1059C= (p.Ala353=) c.8600C= (n.8600C=) c.1157C= c.90C= (p.Ala30=) c.8496C= (p.Ala2832=) | |
13 | g.32371060C>G | CA483261546 | BRCA2 | c.8592C>G (p.Ala2864=) c.8223C>G (p.Ala2741=) c.1059C>G (p.Ala353=) c.8600C>G (n.8600C>G) c.1157C>G c.90C>G (p.Ala30=) c.8496C>G (p.Ala2832=) | dbSNP |
13 | g.32371060C>T | CA6941261 | BRCA2 | c.8592C>T (p.Ala2864=) c.8223C>T (p.Ala2741=) c.1059C>T (p.Ala353=) c.8600C>T (n.8600C>T) c.1157C>T c.90C>T (p.Ala30=) c.8496C>T (p.Ala2832=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32371061T>A | CA387752863 | BRCA2 | c.8593T>A (p.Leu2865Ile) c.8224T>A (p.Leu2742Ile) c.1060T>A (p.Leu354Ile) c.8601T>A (n.8601T>A) c.1158T>A c.91T>A (p.Leu31Ile) c.8497T>A (p.Leu2833Ile) | ClinVar dbSNP |
13 | g.32371061T>C | CA483261548 | BRCA2 | c.8593T>C (p.Leu2865=) c.8224T>C (p.Leu2742=) c.1060T>C (p.Leu354=) c.8601T>C (n.8601T>C) c.1158T>C c.91T>C (p.Leu31=) c.8497T>C (p.Leu2833=) | dbSNP gnomAD v4 |
13 | g.32371061T>G | CA025727 | BRCA2 | c.8593T>G (p.Leu2865Val) c.8224T>G (p.Leu2742Val) c.1060T>G (p.Leu354Val) c.8601T>G (n.8601T>G) c.1158T>G c.91T>G (p.Leu31Val) c.8497T>G (p.Leu2833Val) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32371061T= | CA2082816329 | BRCA2 | c.8593T= (p.Leu2865=) c.8224T= (p.Leu2742=) c.1060T= (p.Leu354=) c.8601T= (n.8601T=) c.1158T= c.91T= (p.Leu31=) c.8497T= (p.Leu2833=) | |
13 | g.32371062dup | CA025726 | BRCA2 | c.8594dup (p.Leu2865PhefsTer4) c.8225dup (p.Leu2742PhefsTer4) c.1061dup (p.Leu354PhefsTer4) c.8602dup (n.8602dup) c.1159dup c.92dup (p.Leu31PhefsTer4) c.8498dup (p.Leu2833PhefsTer4) | ClinVar dbSNP |
13 | g.32371062T>A | CA025729 | BRCA2 | c.8594T>A (p.Leu2865Ter) c.8225T>A (p.Leu2742Ter) c.1061T>A (p.Leu354Ter) c.8602T>A (n.8602T>A) c.1159T>A c.92T>A (p.Leu31Ter) c.8498T>A (p.Leu2833Ter) | ClinVar dbSNP |
13 | g.32371062T>C | CA387752864 | BRCA2 | c.8594T>C (p.Leu2865Ser) c.8225T>C (p.Leu2742Ser) c.1061T>C (p.Leu354Ser) c.8602T>C (n.8602T>C) c.1159T>C c.92T>C (p.Leu31Ser) c.8498T>C (p.Leu2833Ser) | ClinVar dbSNP |
13 | g.32371062T>G | CA387752865 | BRCA2 | c.8594T>G (p.Leu2865Ter) c.8225T>G (p.Leu2742Ter) c.1061T>G (p.Leu354Ter) c.8602T>G (n.8602T>G) c.1159T>G c.92T>G (p.Leu31Ter) c.8498T>G (p.Leu2833Ter) | dbSNP |
13 | g.32371062T= | CA2082816340 | BRCA2 | c.8594T= (p.Leu2865=) c.8225T= (p.Leu2742=) c.1061T= (p.Leu354=) c.8602T= (n.8602T=) c.1159T= c.92T= (p.Leu31=) c.8498T= (p.Leu2833=) | |
13 | g.32371063A= | CA2082816348 | BRCA2 | c.8595A= (p.Leu2865=) c.8226A= (p.Leu2742=) c.1062A= (p.Leu354=) c.8603A= (n.8603A=) c.1160A= c.93A= (p.Leu31=) c.8499A= (p.Leu2833=) | |
13 | g.32371063A>C | CA387752866 | BRCA2 | c.8595A>C (p.Leu2865Phe) c.8226A>C (p.Leu2742Phe) c.1062A>C (p.Leu354Phe) c.8603A>C (n.8603A>C) c.1160A>C c.93A>C (p.Leu31Phe) c.8499A>C (p.Leu2833Phe) | |
13 | g.32371063A>G | CA483261551 | BRCA2 | c.8595A>G (p.Leu2865=) c.8226A>G (p.Leu2742=) c.1062A>G (p.Leu354=) c.8603A>G (n.8603A>G) c.1160A>G c.93A>G (p.Leu31=) c.8499A>G (p.Leu2833=) | ClinVar dbSNP |
13 | g.32371063A>T | CA387752867 | BRCA2 | c.8595A>T (p.Leu2865Phe) c.8226A>T (p.Leu2742Phe) c.1062A>T (p.Leu354Phe) c.8603A>T (n.8603A>T) c.1160A>T c.93A>T (p.Leu31Phe) c.8499A>T (p.Leu2833Phe) | ClinVar dbSNP gnomAD v4 |
13 | g.32371064T>A | CA387752868 | BRCA2 | c.8596T>A (p.Phe2866Ile) c.8227T>A (p.Phe2743Ile) c.1063T>A (p.Phe355Ile) c.8604T>A (n.8604T>A) c.1161T>A c.94T>A (p.Phe32Ile) c.8500T>A (p.Phe2834Ile) | dbSNP |
13 | g.32371064T>C | CA387752869 | BRCA2 | c.8596T>C (p.Phe2866Leu) c.8227T>C (p.Phe2743Leu) c.1063T>C (p.Phe355Leu) c.8604T>C (n.8604T>C) c.1161T>C c.94T>C (p.Phe32Leu) c.8500T>C (p.Phe2834Leu) | dbSNP gnomAD v4 |
13 | g.32371064T>G | CA387752870 | BRCA2 | c.8596T>G (p.Phe2866Val) c.8227T>G (p.Phe2743Val) c.1063T>G (p.Phe355Val) c.8604T>G (n.8604T>G) c.1161T>G c.94T>G (p.Phe32Val) c.8500T>G (p.Phe2834Val) | ClinVar dbSNP |
13 | g.32371064T= | CA2082816355 | BRCA2 | c.8596T= (p.Phe2866=) c.8227T= (p.Phe2743=) c.1063T= (p.Phe355=) c.8604T= (n.8604T=) c.1161T= c.94T= (p.Phe32=) c.8500T= (p.Phe2834=) | |
13 | g.32371065T>A | CA387752872 | BRCA2 | c.8597T>A (p.Phe2866Tyr) c.8228T>A (p.Phe2743Tyr) c.1064T>A (p.Phe355Tyr) c.8605T>A (n.8605T>A) c.1162T>A c.95T>A (p.Phe32Tyr) c.8501T>A (p.Phe2834Tyr) | |
13 | g.32371065T>C | CA387752875 | BRCA2 | c.8597T>C (p.Phe2866Ser) c.8228T>C (p.Phe2743Ser) c.1064T>C (p.Phe355Ser) c.8605T>C (n.8605T>C) c.1162T>C c.95T>C (p.Phe32Ser) c.8501T>C (p.Phe2834Ser) | |
13 | g.32371065T>G | CA387752874 | BRCA2 | c.8597T>G (p.Phe2866Cys) c.8228T>G (p.Phe2743Cys) c.1064T>G (p.Phe355Cys) c.8605T>G (n.8605T>G) c.1162T>G c.95T>G (p.Phe32Cys) c.8501T>G (p.Phe2834Cys) | |
13 | g.32371066C>A | CA387752877 | BRCA2 | c.8598C>A (p.Phe2866Leu) c.8229C>A (p.Phe2743Leu) c.1065C>A (p.Phe355Leu) c.8606C>A (n.8606C>A) c.1163C>A c.96C>A (p.Phe32Leu) c.8502C>A (p.Phe2834Leu) | dbSNP |
13 | g.32371066C>G | CA387752878 | BRCA2 | c.8598C>G (p.Phe2866Leu) c.8229C>G (p.Phe2743Leu) c.1065C>G (p.Phe355Leu) c.8606C>G (n.8606C>G) c.1163C>G c.96C>G (p.Phe32Leu) c.8502C>G (p.Phe2834Leu) | dbSNP |
13 | g.32371066C>T | CA483261555 | BRCA2 | c.8598C>T (p.Phe2866=) c.8229C>T (p.Phe2743=) c.1065C>T (p.Phe355=) c.8606C>T (n.8606C>T) c.1163C>T c.96C>T (p.Phe32=) c.8502C>T (p.Phe2834=) | dbSNP |
13 | g.32371067A= | CA2082816361 | BRCA2 | c.8599A= (p.Thr2867=) c.8230A= (p.Thr2744=) c.1066A= (p.Thr356=) c.8607A= (n.8607A=) c.1164A= c.97A= (p.Thr33=) c.8503A= (p.Thr2835=) | |
13 | g.32371067A>C | CA025730 | BRCA2 | c.8599A>C (p.Thr2867Pro) c.8230A>C (p.Thr2744Pro) c.1066A>C (p.Thr356Pro) c.8607A>C (n.8607A>C) c.1164A>C c.97A>C (p.Thr33Pro) c.8503A>C (p.Thr2835Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32371067A>G | CA387752880 | BRCA2 | c.8599A>G (p.Thr2867Ala) c.8230A>G (p.Thr2744Ala) c.1066A>G (p.Thr356Ala) c.8607A>G (n.8607A>G) c.1164A>G c.97A>G (p.Thr33Ala) c.8503A>G (p.Thr2835Ala) | ClinVar |
13 | g.32371067A>T | CA387752881 | BRCA2 | c.8599A>T (p.Thr2867Ser) c.8230A>T (p.Thr2744Ser) c.1066A>T (p.Thr356Ser) c.8607A>T (n.8607A>T) c.1164A>T c.97A>T (p.Thr33Ser) c.8503A>T (p.Thr2835Ser) | dbSNP |
13 | g.32371068C>A | CA387752884 | BRCA2 | c.8600C>A (p.Thr2867Asn) c.8231C>A (p.Thr2744Asn) c.1067C>A (p.Thr356Asn) c.8608C>A (n.8608C>A) c.1165C>A c.98C>A (p.Thr33Asn) c.8504C>A (p.Thr2835Asn) | |
13 | g.32371068C= | CA2082816368 | BRCA2 | c.8600C= (p.Thr2867=) c.8231C= (p.Thr2744=) c.1067C= (p.Thr356=) c.8608C= (n.8608C=) c.1165C= c.98C= (p.Thr33=) c.8504C= (p.Thr2835=) | |
13 | g.32371068C>G | CA387752886 | BRCA2 | c.8600C>G (p.Thr2867Ser) c.8231C>G (p.Thr2744Ser) c.1067C>G (p.Thr356Ser) c.8608C>G (n.8608C>G) c.1165C>G c.98C>G (p.Thr33Ser) c.8504C>G (p.Thr2835Ser) | dbSNP |
13 | g.32371068C>T | CA387752887 | BRCA2 | c.8600C>T (p.Thr2867Ile) c.8231C>T (p.Thr2744Ile) c.1067C>T (p.Thr356Ile) c.8608C>T (n.8608C>T) c.1165C>T c.98C>T (p.Thr33Ile) c.8504C>T (p.Thr2835Ile) | ClinVar dbSNP |
13 | g.32371069T>A | CA483261556 | BRCA2 | c.8601T>A (p.Thr2867=) c.8232T>A (p.Thr2744=) c.1068T>A (p.Thr356=) c.8609T>A (n.8609T>A) c.1166T>A c.99T>A (p.Thr33=) c.8505T>A (p.Thr2835=) | |
13 | g.32371069T>C | CA483261557 | BRCA2 | c.8601T>C (p.Thr2867=) c.8232T>C (p.Thr2744=) c.1068T>C (p.Thr356=) c.8609T>C (n.8609T>C) c.1166T>C c.99T>C (p.Thr33=) c.8505T>C (p.Thr2835=) | |
13 | g.32371069T>G | CA483261558 | BRCA2 | c.8601T>G (p.Thr2867=) c.8232T>G (p.Thr2744=) c.1068T>G (p.Thr356=) c.8609T>G (n.8609T>G) c.1166T>G c.99T>G (p.Thr33=) c.8505T>G (p.Thr2835=) | |
13 | g.32371069dup | CA025731 | BRCA2 | c.8601dup (p.Lys2868Ter) c.8232dup (p.Lys2745Ter) c.1068dup (p.Lys357Ter) c.8609dup (n.8609dup) c.1166dup c.99dup (p.Lys34Ter) c.8505dup (p.Lys2836Ter) | ClinVar dbSNP |
13 | g.32371070A= | CA2082816373 | BRCA2 | c.8602A= (p.Lys2868=) c.8233A= (p.Lys2745=) c.1069A= (p.Lys357=) c.8610A= (n.8610A=) c.1167A= c.100A= (p.Lys34=) c.8506A= (p.Lys2836=) | |
13 | g.32371070A>C | CA387752890 | BRCA2 | c.8602A>C (p.Lys2868Gln) c.8233A>C (p.Lys2745Gln) c.1069A>C (p.Lys357Gln) c.8610A>C (n.8610A>C) c.1167A>C c.100A>C (p.Lys34Gln) c.8506A>C (p.Lys2836Gln) | |
13 | g.32371070A>G | CA387752891 | BRCA2 | c.8602A>G (p.Lys2868Glu) c.8233A>G (p.Lys2745Glu) c.1069A>G (p.Lys357Glu) c.8610A>G (n.8610A>G) c.1167A>G c.100A>G (p.Lys34Glu) c.8506A>G (p.Lys2836Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32371070A>T | CA387752892 | BRCA2 | c.8602A>T (p.Lys2868Ter) c.8233A>T (p.Lys2745Ter) c.1069A>T (p.Lys357Ter) c.8610A>T (n.8610A>T) c.1167A>T c.100A>T (p.Lys34Ter) c.8506A>T (p.Lys2836Ter) | |
13 | g.32371071A= | CA2082816381 | BRCA2 | c.8603A= (p.Lys2868=) c.8234A= (p.Lys2745=) c.1070A= (p.Lys357=) c.8611A= (n.8611A=) c.1168A= c.101A= (p.Lys34=) c.8507A= (p.Lys2836=) | |
13 | g.32371071A>C | CA387752896 | BRCA2 | c.8603A>C (p.Lys2868Thr) c.8234A>C (p.Lys2745Thr) c.1070A>C (p.Lys357Thr) c.8611A>C (n.8611A>C) c.1168A>C c.101A>C (p.Lys34Thr) c.8507A>C (p.Lys2836Thr) | |
13 | g.32371071A>G | CA6941262 | BRCA2 | c.8603A>G (p.Lys2868Arg) c.8234A>G (p.Lys2745Arg) c.1070A>G (p.Lys357Arg) c.8611A>G (n.8611A>G) c.1168A>G c.101A>G (p.Lys34Arg) c.8507A>G (p.Lys2836Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32371071A>T | CA387752894 | BRCA2 | c.8603A>T (p.Lys2868Ile) c.8234A>T (p.Lys2745Ile) c.1070A>T (p.Lys357Ile) c.8611A>T (n.8611A>T) c.1168A>T c.101A>T (p.Lys34Ile) c.8507A>T (p.Lys2836Ile) | dbSNP |
13 | g.32371072A>C | CA387752897 | BRCA2 | c.8604A>C (p.Lys2868Asn) c.8235A>C (p.Lys2745Asn) c.1071A>C (p.Lys357Asn) c.8612A>C (n.8612A>C) c.1169A>C c.102A>C (p.Lys34Asn) c.8508A>C (p.Lys2836Asn) | |
13 | g.32371072A>G | CA483261559 | BRCA2 | c.8604A>G (p.Lys2868=) c.8235A>G (p.Lys2745=) c.1071A>G (p.Lys357=) c.8612A>G (n.8612A>G) c.1169A>G c.102A>G (p.Lys34=) c.8508A>G (p.Lys2836=) | |
13 | g.32371072A>T | CA387752899 | BRCA2 | c.8604A>T (p.Lys2868Asn) c.8235A>T (p.Lys2745Asn) c.1071A>T (p.Lys357Asn) c.8612A>T (n.8612A>T) c.1169A>T c.102A>T (p.Lys34Asn) c.8508A>T (p.Lys2836Asn) | dbSNP |
13 | g.32371073A= | CA2082816407 | BRCA2 | c.8605A= (p.Ile2869=) c.8236A= (p.Ile2746=) c.1072A= (p.Ile358=) c.8613A= (n.8613A=) c.1170A= c.103A= (p.Ile35=) c.8509A= (p.Ile2837=) | |
13 | g.32371073A>C | CA387752901 | BRCA2 | c.8605A>C (p.Ile2869Leu) c.8236A>C (p.Ile2746Leu) c.1072A>C (p.Ile358Leu) c.8613A>C (n.8613A>C) c.1170A>C c.103A>C (p.Ile35Leu) c.8509A>C (p.Ile2837Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32371073A>G | CA387752903 | BRCA2 | c.8605A>G (p.Ile2869Val) c.8236A>G (p.Ile2746Val) c.1072A>G (p.Ile358Val) c.8613A>G (n.8613A>G) c.1170A>G c.103A>G (p.Ile35Val) c.8509A>G (p.Ile2837Val) | ClinVar |
13 | g.32371073A>T | CA387752905 | BRCA2 | c.8605A>T (p.Ile2869Phe) c.8236A>T (p.Ile2746Phe) c.1072A>T (p.Ile358Phe) c.8613A>T (n.8613A>T) c.1170A>T c.103A>T (p.Ile35Phe) c.8509A>T (p.Ile2837Phe) | |
13 | g.32371073_32371074delinsAT | CA2082816405 | BRCA2 | c.8605_8606delinsAT (p.Ile2869=) c.8236_8237delinsAT (p.Ile2746=) c.1072_1073delinsAT (p.Ile358=) c.8613_8614delinsAT (n.8613_8614delinsAT) c.1170_1171delinsAT c.103_104delinsAT (p.Ile35=) c.8509_8510delinsAT (p.Ile2837=) | |
13 | g.32371074T>A | CA387752907 | BRCA2 | c.8606T>A (p.Ile2869Asn) c.8237T>A (p.Ile2746Asn) c.1073T>A (p.Ile358Asn) c.8614T>A (n.8614T>A) c.1171T>A c.104T>A (p.Ile35Asn) c.8510T>A (p.Ile2837Asn) | ClinVar dbSNP |
13 | g.32371074T>C | CA387752909 | BRCA2 | c.8606T>C (p.Ile2869Thr) c.8237T>C (p.Ile2746Thr) c.1073T>C (p.Ile358Thr) c.8614T>C (n.8614T>C) c.1171T>C c.104T>C (p.Ile35Thr) c.8510T>C (p.Ile2837Thr) | |
13 | g.32371074T>G | CA387752910 | BRCA2 | c.8606T>G (p.Ile2869Ser) c.8237T>G (p.Ile2746Ser) c.1073T>G (p.Ile358Ser) c.8614T>G (n.8614T>G) c.1171T>G c.104T>G (p.Ile35Ser) c.8510T>G (p.Ile2837Ser) | |
13 | g.32371074T= | CA2082816419 | BRCA2 | c.8606T= (p.Ile2869=) c.8237T= (p.Ile2746=) c.1073T= (p.Ile358=) c.8614T= (n.8614T=) c.1171T= c.104T= (p.Ile35=) c.8510T= (p.Ile2837=) | |
13 | g.32371074_32371075del | CA2580087403 | BRCA2 | c.8606_8607del (p.Ile2869ThrfsTer5) c.8237_8238del (p.Ile2746ThrfsTer5) c.1073_1074del (p.Ile358ThrfsTer5) c.8614_8615del (n.8614_8615del) c.1171_1172del c.104_105del (p.Ile35ThrfsTer5) c.8510_8511del (p.Ile2837ThrfsTer5) | ClinVar |
13 | g.32371075del | CA16614011 | BRCA2 | c.8607del (p.Gln2870ArgfsTer21) c.8607del (p.Gln2870ArgfsTer16) c.8238del (p.Gln2747ArgfsTer21) c.8607del (p.Gln2870ArgfsTer22) c.1074del (p.Gln359ArgfsTer21) c.8615del (n.8615del) c.1172del c.105del (p.Gln36ArgfsTer16) c.8511del (p.Gln2838ArgfsTer21) | ClinVar dbSNP |
13 | g.32371075T>A | CA16613967 | BRCA2 | c.8607T>A (p.Ile2869=) c.8238T>A (p.Ile2746=) c.1074T>A (p.Ile358=) c.8615T>A (n.8615T>A) c.1172T>A c.105T>A (p.Ile35=) c.8511T>A (p.Ile2837=) | ClinVar dbSNP gnomAD v4 |
13 | g.32371075T>C | CA025732 | BRCA2 | c.8607T>C (p.Ile2869=) c.8238T>C (p.Ile2746=) c.1074T>C (p.Ile358=) c.8615T>C (n.8615T>C) c.1172T>C c.105T>C (p.Ile35=) c.8511T>C (p.Ile2837=) | ClinVar dbSNP |
13 | g.32371075T>G | CA387752911 | BRCA2 | c.8607T>G (p.Ile2869Met) c.8238T>G (p.Ile2746Met) c.1074T>G (p.Ile358Met) c.8615T>G (n.8615T>G) c.1172T>G c.105T>G (p.Ile35Met) c.8511T>G (p.Ile2837Met) | |
13 | g.32371075T= | CA2082816432 | BRCA2 | c.8607T= (p.Ile2869=) c.8238T= (p.Ile2746=) c.1074T= (p.Ile358=) c.8615T= (n.8615T=) c.1172T= c.105T= (p.Ile35=) c.8511T= (p.Ile2837=) | |
13 | g.32371076C>A | CA387752912 | BRCA2 | c.8608C>A (p.Gln2870Lys) c.8239C>A (p.Gln2747Lys) c.1075C>A (p.Gln359Lys) c.8616C>A (n.8616C>A) c.1173C>A c.106C>A (p.Gln36Lys) c.8512C>A (p.Gln2838Lys) | |
13 | g.32371076C= | CA2082816439 | BRCA2 | c.8608C= (p.Gln2870=) c.8239C= (p.Gln2747=) c.1075C= (p.Gln359=) c.8616C= (n.8616C=) c.1173C= c.106C= (p.Gln36=) c.8512C= (p.Gln2838=) | |
13 | g.32371076C>G | CA387752913 | BRCA2 | c.8608C>G (p.Gln2870Glu) c.8239C>G (p.Gln2747Glu) c.1075C>G (p.Gln359Glu) c.8616C>G (n.8616C>G) c.1173C>G c.106C>G (p.Gln36Glu) c.8512C>G (p.Gln2838Glu) | dbSNP gnomAD v4 |
13 | g.32371076C>T | CA025733 | BRCA2 | c.8608C>T (p.Gln2870Ter) c.8239C>T (p.Gln2747Ter) c.1075C>T (p.Gln359Ter) c.8616C>T (n.8616C>T) c.1173C>T c.106C>T (p.Gln36Ter) c.8512C>T (p.Gln2838Ter) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32371077A>C | CA387752918 | BRCA2 | c.8609A>C (p.Gln2870Pro) c.8240A>C (p.Gln2747Pro) c.1076A>C (p.Gln359Pro) c.8617A>C (n.8617A>C) c.1174A>C c.107A>C (p.Gln36Pro) c.8513A>C (p.Gln2838Pro) | |
13 | g.32371077A>G | CA387752914 | BRCA2 | c.8609A>G (p.Gln2870Arg) c.8240A>G (p.Gln2747Arg) c.1076A>G (p.Gln359Arg) c.8617A>G (n.8617A>G) c.1174A>G c.107A>G (p.Gln36Arg) c.8513A>G (p.Gln2838Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32371077A>T | CA387752916 | BRCA2 | c.8609A>T (p.Gln2870Leu) c.8240A>T (p.Gln2747Leu) c.1076A>T (p.Gln359Leu) c.8617A>T (n.8617A>T) c.1174A>T c.107A>T (p.Gln36Leu) c.8513A>T (p.Gln2838Leu) | |
13 | g.32371078G>A | CA483261560 | BRCA2 | c.8610G>A (p.Gln2870=) c.8241G>A (p.Gln2747=) c.1077G>A (p.Gln359=) c.8618G>A (n.8618G>A) c.1175G>A c.108G>A (p.Gln36=) c.8514G>A (p.Gln2838=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32371078G>C | CA387752921 | BRCA2 | c.8610G>C (p.Gln2870His) c.8241G>C (p.Gln2747His) c.1077G>C (p.Gln359His) c.8618G>C (n.8618G>C) c.1175G>C c.108G>C (p.Gln36His) c.8514G>C (p.Gln2838His) | ClinVar dbSNP |
13 | g.32371078G= | CA2082816446 | BRCA2 | c.8610G= (p.Gln2870=) c.8241G= (p.Gln2747=) c.1077G= (p.Gln359=) c.8618G= (n.8618G=) c.1175G= c.108G= (p.Gln36=) c.8514G= (p.Gln2838=) | |
13 | g.32371078G>T | CA387752922 | BRCA2 | c.8610G>T (p.Gln2870His) c.8241G>T (p.Gln2747His) c.1077G>T (p.Gln359His) c.8618G>T (n.8618G>T) c.1175G>T c.108G>T (p.Gln36His) c.8514G>T (p.Gln2838His) | dbSNP |