Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32370402_32370557del | CA2580087346 | BRCA2 | c.8332_8487del c.7963_8118del c.799_954del c.8340_8495del c.897_1052del c.8236_8391del | ClinVar |
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.32370401_32370703dup | CA2499222326 | BRCA2 | c.8332-1_8487+146dup c.7963-1_8118+146dup c.799-1_954+146dup c.8340-1_8495+146dup c.897-1_1052+146dup c.8236-1_8391+146dup | ClinVar |
13 | g.32370453_32370465delinsTTTCCTGACCCTA | CA2082813502 | BRCA2 | c.8383_8395delinsTTTCCTGACCCTA (p.Phe2795=) c.8014_8026delinsTTTCCTGACCCTA (p.Phe2672=) c.850_862delinsTTTCCTGACCCTA (p.Phe284=) c.8391_8403delinsTTTCCTGACCCTA (n.8391_8403delinsTTTCCTGACCCTA) c.948_960delinsTTTCCTGACCCTA c.8287_8299delinsTTTCCTGACCCTA (p.Phe2763=) | |
13 | g.32370454_32370465del | CA025618 | BRCA2 | c.8384_8395del (p.Phe2795Ter) c.8015_8026del (p.Phe2672Ter) c.851_862del (p.Phe284Ter) c.8392_8403del (n.8392_8403del) c.949_960del c.8288_8299del (p.Phe2763Ter) | ClinVar dbSNP |
13 | g.32370458T>A | CA483261195 | BRCA2 | c.8388T>A (p.Pro2796=) c.8019T>A (p.Pro2673=) c.855T>A (p.Pro285=) c.8396T>A (n.8396T>A) c.953T>A c.8292T>A (p.Pro2764=) | dbSNP |
13 | g.32370458T>C | CA16607495 | BRCA2 | c.8388T>C (p.Pro2796=) c.8019T>C (p.Pro2673=) c.855T>C (p.Pro285=) c.8396T>C (n.8396T>C) c.953T>C c.8292T>C (p.Pro2764=) | ClinVar dbSNP |
13 | g.32370458T>G | CA483261196 | BRCA2 | c.8388T>G (p.Pro2796=) c.8019T>G (p.Pro2673=) c.855T>G (p.Pro285=) c.8396T>G (n.8396T>G) c.953T>G c.8292T>G (p.Pro2764=) | |
13 | g.32370458T= | CA2082813546 | BRCA2 | c.8388T= (p.Pro2796=) c.8019T= (p.Pro2673=) c.855T= (p.Pro285=) c.8396T= (n.8396T=) c.953T= c.8292T= (p.Pro2764=) | |
13 | g.32370458_32370465delinsTGACCCTA | CA2082813545 | BRCA2 | c.8388_8395delinsTGACCCTA (p.Pro2796=) c.8019_8026delinsTGACCCTA (p.Pro2673=) c.855_862delinsTGACCCTA (p.Pro285=) c.8396_8403delinsTGACCCTA (n.8396_8403delinsTGACCCTA) c.953_960delinsTGACCCTA c.8292_8299delinsTGACCCTA (p.Pro2764=) | |
13 | g.32370459G>A | CA387752472 | BRCA2 | c.8389G>A (p.Asp2797Asn) c.8020G>A (p.Asp2674Asn) c.856G>A (p.Asp286Asn) c.8397G>A (n.8397G>A) c.954G>A c.8293G>A (p.Asp2765Asn) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32370459G>C | CA387752473 | BRCA2 | c.8389G>C (p.Asp2797His) c.8020G>C (p.Asp2674His) c.856G>C (p.Asp286His) c.8397G>C (n.8397G>C) c.954G>C c.8293G>C (p.Asp2765His) | ClinVar dbSNP |
13 | g.32370459G= | CA2082813557 | BRCA2 | c.8389G= (p.Asp2797=) c.8020G= (p.Asp2674=) c.856G= (p.Asp286=) c.8397G= (n.8397G=) c.954G= c.8293G= (p.Asp2765=) | |
13 | g.32370459G>T | CA387752474 | BRCA2 | c.8389G>T (p.Asp2797Tyr) c.8020G>T (p.Asp2674Tyr) c.856G>T (p.Asp286Tyr) c.8397G>T (n.8397G>T) c.954G>T c.8293G>T (p.Asp2765Tyr) | ClinVar dbSNP |
13 | g.32370463_32370469del | CA10589492 | BRCA2 | c.8393_8399del (p.Pro2798LeufsTer21) c.8024_8030del (p.Pro2675LeufsTer21) c.860_866del (p.Pro287LeufsTer21) c.8401_8407del (n.8401_8407del) c.958_964del c.8297_8303del (p.Pro2766LeufsTer21) | ClinVar dbSNP |
13 | g.32370460A= | CA2082813561 | BRCA2 | c.8390A= (p.Asp2797=) c.8021A= (p.Asp2674=) c.857A= (p.Asp286=) c.8398A= (n.8398A=) c.955A= c.8294A= (p.Asp2765=) | |
13 | g.32370460A>C | CA387752477 | BRCA2 | c.8390A>C (p.Asp2797Ala) c.8021A>C (p.Asp2674Ala) c.857A>C (p.Asp286Ala) c.8398A>C (n.8398A>C) c.955A>C c.8294A>C (p.Asp2765Ala) | dbSNP |
13 | g.32370460A>G | CA387752475 | BRCA2 | c.8390A>G (p.Asp2797Gly) c.8021A>G (p.Asp2674Gly) c.857A>G (p.Asp286Gly) c.8398A>G (n.8398A>G) c.955A>G c.8294A>G (p.Asp2765Gly) | |
13 | g.32370460A>T | CA387752476 | BRCA2 | c.8390A>T (p.Asp2797Val) c.8021A>T (p.Asp2674Val) c.857A>T (p.Asp286Val) c.8398A>T (n.8398A>T) c.955A>T c.8294A>T (p.Asp2765Val) | dbSNP |
13 | g.32370461C>A | CA387752478 | BRCA2 | c.8391C>A (p.Asp2797Glu) c.8022C>A (p.Asp2674Glu) c.858C>A (p.Asp286Glu) c.8399C>A (n.8399C>A) c.956C>A c.8295C>A (p.Asp2765Glu) | |
13 | g.32370461C>G | CA387752479 | BRCA2 | c.8391C>G (p.Asp2797Glu) c.8022C>G (p.Asp2674Glu) c.858C>G (p.Asp286Glu) c.8399C>G (n.8399C>G) c.956C>G c.8295C>G (p.Asp2765Glu) | |
13 | g.32370461C>T | CA483261197 | BRCA2 | c.8391C>T (p.Asp2797=) c.8022C>T (p.Asp2674=) c.858C>T (p.Asp286=) c.8399C>T (n.8399C>T) c.956C>T c.8295C>T (p.Asp2765=) | |
13 | g.32370463dup | CA10589493 | BRCA2 | c.8393dup (p.Arg2799Ter) c.8024dup (p.Arg2676Ter) c.860dup (p.Arg288Ter) c.8401dup (n.8401dup) c.958dup c.8297dup (p.Arg2767Ter) | ClinVar dbSNP |
13 | g.32370463del | CA2580087361 | BRCA2 | c.8393del (p.Pro2798LeufsTer23) c.8024del (p.Pro2675LeufsTer23) c.860del (p.Pro287LeufsTer23) c.8401del (n.8401del) c.958del c.8297del (p.Pro2766LeufsTer23) | ClinVar |
13 | g.32370462C>A | CA387752480 | BRCA2 | c.8392C>A (p.Pro2798Thr) c.8023C>A (p.Pro2675Thr) c.859C>A (p.Pro287Thr) c.8400C>A (n.8400C>A) c.957C>A c.8296C>A (p.Pro2766Thr) | ClinVar dbSNP |
13 | g.32370462C= | CA2082813573 | BRCA2 | c.8392C= (p.Pro2798=) c.8023C= (p.Pro2675=) c.859C= (p.Pro287=) c.8400C= (n.8400C=) c.957C= c.8296C= (p.Pro2766=) | |
13 | g.32370462C>G | CA387752481 | BRCA2 | c.8392C>G (p.Pro2798Ala) c.8023C>G (p.Pro2675Ala) c.859C>G (p.Pro287Ala) c.8400C>G (n.8400C>G) c.957C>G c.8296C>G (p.Pro2766Ala) | ClinVar dbSNP |
13 | g.32370462C>T | CA6941226 | BRCA2 | c.8392C>T (p.Pro2798Ser) c.8023C>T (p.Pro2675Ser) c.859C>T (p.Pro287Ser) c.8400C>T (n.8400C>T) c.957C>T c.8296C>T (p.Pro2766Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370463C>A | CA387752482 | BRCA2 | c.8393C>A (p.Pro2798His) c.8024C>A (p.Pro2675His) c.860C>A (p.Pro287His) c.8401C>A (n.8401C>A) c.958C>A c.8297C>A (p.Pro2766His) | ClinVar dbSNP |
13 | g.32370463C= | CA2082813591 | BRCA2 | c.8393C= (p.Pro2798=) c.8024C= (p.Pro2675=) c.860C= (p.Pro287=) c.8401C= (n.8401C=) c.958C= c.8297C= (p.Pro2766=) | |
13 | g.32370463C>G | CA10577493 | BRCA2 | c.8393C>G (p.Pro2798Arg) c.8024C>G (p.Pro2675Arg) c.860C>G (p.Pro287Arg) c.8401C>G (n.8401C>G) c.958C>G c.8297C>G (p.Pro2766Arg) | ClinVar dbSNP |
13 | g.32370463C>T | CA025622 | BRCA2 | c.8393C>T (p.Pro2798Leu) c.8024C>T (p.Pro2675Leu) c.860C>T (p.Pro287Leu) c.8401C>T (n.8401C>T) c.958C>T c.8297C>T (p.Pro2766Leu) | ClinVar dbSNP |
13 | g.32370463_32370466delinsCTAG | CA2082813602 | BRCA2 | c.8393_8396delinsCTAG (p.Pro2798=) c.8024_8027delinsCTAG (p.Pro2675=) c.860_863delinsCTAG (p.Pro287=) c.8401_8404delinsCTAG (n.8401_8404delinsCTAG) c.958_961delinsCTAG c.8297_8300delinsCTAG (p.Pro2766=) | |
13 | g.32370463_32370466dup | CA10589491 | BRCA2 | c.8393_8396dup (p.Arg2799SerfsTer2) c.8024_8027dup (p.Arg2676SerfsTer2) c.860_863dup (p.Arg288SerfsTer2) c.8401_8404dup (n.8401_8404dup) c.958_961dup c.8297_8300dup (p.Arg2767SerfsTer2) | ClinVar dbSNP |
13 | g.32370464del | CA2575387954 | BRCA2 | c.8394del (p.Arg2799AspfsTer22) c.8025del (p.Arg2676AspfsTer22) c.861del (p.Arg288AspfsTer22) c.8402del (n.8402del) c.959del c.8298del (p.Arg2767AspfsTer22) | |
13 | g.32370464T>A | CA483261198 | BRCA2 | c.8394T>A (p.Pro2798=) c.8025T>A (p.Pro2675=) c.861T>A (p.Pro287=) c.8402T>A (n.8402T>A) c.959T>A c.8298T>A (p.Pro2766=) | |
13 | g.32370464T>C | CA483261199 | BRCA2 | c.8394T>C (p.Pro2798=) c.8025T>C (p.Pro2675=) c.861T>C (p.Pro287=) c.8402T>C (n.8402T>C) c.959T>C c.8298T>C (p.Pro2766=) | dbSNP |
13 | g.32370464T>G | CA483261200 | BRCA2 | c.8394T>G (p.Pro2798=) c.8025T>G (p.Pro2675=) c.861T>G (p.Pro287=) c.8402T>G (n.8402T>G) c.959T>G c.8298T>G (p.Pro2766=) | ClinVar dbSNP |
13 | g.32370464T= | CA2082813614 | BRCA2 | c.8394T= (p.Pro2798=) c.8025T= (p.Pro2675=) c.861T= (p.Pro287=) c.8402T= (n.8402T=) c.959T= c.8298T= (p.Pro2766=) | |
13 | g.32370464_32370465delinsTA | CA2082813613 | BRCA2 | c.8394_8395delinsTA (p.Pro2798=) c.8025_8026delinsTA (p.Pro2675=) c.861_862delinsTA (p.Pro287=) c.8402_8403delinsTA (n.8402_8403delinsTA) c.959_960delinsTA c.8298_8299delinsTA (p.Pro2766=) | |
13 | g.32370464_32370466delinsAA | CA025623 | BRCA2 | c.8394_8396delinsAA (p.Arg2799AsnfsTer22) c.8025_8027delinsAA (p.Arg2676AsnfsTer22) c.861_863delinsAA (p.Arg288AsnfsTer22) c.8402_8404delinsAA (n.8402_8404delinsAA) c.959_961delinsAA c.8298_8300delinsAA (p.Arg2767AsnfsTer22) | ClinVar dbSNP |
13 | g.32370465del | CA025624 | BRCA2 | c.8395del (p.Arg2799AspfsTer22) c.8026del (p.Arg2676AspfsTer22) c.862del (p.Arg288AspfsTer22) c.8403del (n.8403del) c.960del c.8299del (p.Arg2767AspfsTer22) | ClinVar dbSNP |
13 | g.32370465A= | CA2082813619 | BRCA2 | c.8395A= (p.Arg2799=) c.8026A= (p.Arg2676=) c.862A= (p.Arg288=) c.8403A= (n.8403A=) c.960A= c.8299A= (p.Arg2767=) | |
13 | g.32370465A>C | CA483261201 | BRCA2 | c.8395A>C (p.Arg2799=) c.8026A>C (p.Arg2676=) c.862A>C (p.Arg288=) c.8403A>C (n.8403A>C) c.960A>C c.8299A>C (p.Arg2767=) | |
13 | g.32370465A>G | CA387752483 | BRCA2 | c.8395A>G (p.Arg2799Gly) c.8026A>G (p.Arg2676Gly) c.862A>G (p.Arg288Gly) c.8403A>G (n.8403A>G) c.960A>G c.8299A>G (p.Arg2767Gly) | ClinVar dbSNP |
13 | g.32370465A>T | CA10589494 | BRCA2 | c.8395A>T (p.Arg2799Ter) c.8026A>T (p.Arg2676Ter) c.862A>T (p.Arg288Ter) c.8403A>T (n.8403A>T) c.960A>T c.8299A>T (p.Arg2767Ter) | ClinVar dbSNP |
13 | g.32370466G>A | CA387752484 | BRCA2 | c.8396G>A (p.Arg2799Lys) c.8027G>A (p.Arg2676Lys) c.863G>A (p.Arg288Lys) c.8404G>A (n.8404G>A) c.961G>A c.8300G>A (p.Arg2767Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.32370466G>C | CA025625 | BRCA2 | c.8396G>C (p.Arg2799Thr) c.8027G>C (p.Arg2676Thr) c.863G>C (p.Arg288Thr) c.8404G>C (n.8404G>C) c.961G>C c.8300G>C (p.Arg2767Thr) | ClinVar dbSNP |
13 | g.32370466G= | CA2082813641 | BRCA2 | c.8396G= (p.Arg2799=) c.8027G= (p.Arg2676=) c.863G= (p.Arg288=) c.8404G= (n.8404G=) c.961G= c.8300G= (p.Arg2767=) | |
13 | g.32370466G>T | CA387752485 | BRCA2 | c.8396G>T (p.Arg2799Ile) c.8027G>T (p.Arg2676Ile) c.863G>T (p.Arg288Ile) c.8404G>T (n.8404G>T) c.961G>T c.8300G>T (p.Arg2767Ile) | |
13 | g.32370466dup | CA645509334 | BRCA2 | c.8396dup (p.Pro2800ThrfsTer12) c.8027dup (p.Pro2677ThrfsTer12) c.863dup (p.Pro289ThrfsTer12) c.8404dup (n.8404dup) c.961dup c.8300dup (p.Pro2768ThrfsTer12) | ClinVar dbSNP |
13 | g.32370467A>C | CA387752486 | BRCA2 | c.8397A>C (p.Arg2799Ser) c.8028A>C (p.Arg2676Ser) c.864A>C (p.Arg288Ser) c.8405A>C (n.8405A>C) c.962A>C c.8301A>C (p.Arg2767Ser) | dbSNP |
13 | g.32370467A>G | CA483261203 | BRCA2 | c.8397A>G (p.Arg2799=) c.8028A>G (p.Arg2676=) c.864A>G (p.Arg288=) c.8405A>G (n.8405A>G) c.962A>G c.8301A>G (p.Arg2767=) | ClinVar |
13 | g.32370467A>T | CA387752487 | BRCA2 | c.8397A>T (p.Arg2799Ser) c.8028A>T (p.Arg2676Ser) c.864A>T (p.Arg288Ser) c.8405A>T (n.8405A>T) c.962A>T c.8301A>T (p.Arg2767Ser) | dbSNP |
13 | g.32370468C>A | CA387752488 | BRCA2 | c.8398C>A (p.Pro2800Thr) c.8029C>A (p.Pro2677Thr) c.865C>A (p.Pro289Thr) c.8406C>A (n.8406C>A) c.963C>A c.8302C>A (p.Pro2768Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32370468C= | CA2082813659 | BRCA2 | c.8398C= (p.Pro2800=) c.8029C= (p.Pro2677=) c.865C= (p.Pro289=) c.8406C= (n.8406C=) c.963C= c.8302C= (p.Pro2768=) | |
13 | g.32370468C>G | CA387752489 | BRCA2 | c.8398C>G (p.Pro2800Ala) c.8029C>G (p.Pro2677Ala) c.865C>G (p.Pro289Ala) c.8406C>G (n.8406C>G) c.963C>G c.8302C>G (p.Pro2768Ala) | dbSNP |
13 | g.32370468C>T | CA025626 | BRCA2 | c.8398C>T (p.Pro2800Ser) c.8029C>T (p.Pro2677Ser) c.865C>T (p.Pro289Ser) c.8406C>T (n.8406C>T) c.963C>T c.8302C>T (p.Pro2768Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32370468_32370469insA | CA2695217922 | BRCA2 | c.8398_8399insA (p.Pro2800HisfsTer12) c.8029_8030insA (p.Pro2677HisfsTer12) c.865_866insA (p.Pro289HisfsTer12) c.8406_8407insA (n.8406_8407insA) c.963_964insA c.8302_8303insA (p.Pro2768HisfsTer12) | |
13 | g.32370469C>A | CA387752491 | BRCA2 | c.8399C>A (p.Pro2800His) c.8030C>A (p.Pro2677His) c.866C>A (p.Pro289His) c.8407C>A (n.8407C>A) c.964C>A c.8303C>A (p.Pro2768His) | ClinVar dbSNP |
13 | g.32370469C= | CA2082813671 | BRCA2 | c.8399C= (p.Pro2800=) c.8030C= (p.Pro2677=) c.866C= (p.Pro289=) c.8407C= (n.8407C=) c.964C= c.8303C= (p.Pro2768=) | |
13 | g.32370469C>G | CA025627 | BRCA2 | c.8399C>G (p.Pro2800Arg) c.8030C>G (p.Pro2677Arg) c.866C>G (p.Pro289Arg) c.8407C>G (n.8407C>G) c.964C>G c.8303C>G (p.Pro2768Arg) | ClinVar dbSNP |
13 | g.32370469C>T | CA387752490 | BRCA2 | c.8399C>T (p.Pro2800Leu) c.8030C>T (p.Pro2677Leu) c.866C>T (p.Pro289Leu) c.8407C>T (n.8407C>T) c.964C>T c.8303C>T (p.Pro2768Leu) | ClinVar dbSNP |
13 | g.32370469_32370470delinsCT | CA2082813686 | BRCA2 | c.8399_8400delinsCT (p.Pro2800=) c.8030_8031delinsCT (p.Pro2677=) c.866_867delinsCT (p.Pro289=) c.8407_8408delinsCT (n.8407_8408delinsCT) c.964_965delinsCT c.8303_8304delinsCT (p.Pro2768=) | |
13 | g.32370469_32370472delinsCTTT | CA2082813680 | BRCA2 | c.8399_8402delinsCTTT (p.Pro2800=) c.8030_8033delinsCTTT (p.Pro2677=) c.866_869delinsCTTT (p.Pro289=) c.8407_8410delinsCTTT (n.8407_8410delinsCTTT) c.964_967delinsCTTT c.8303_8306delinsCTTT (p.Pro2768=) | |
13 | g.32370469_32370470insA | CA658761168 | BRCA2 | c.8399_8400insA (p.Pro2802SerfsTer10) c.8030_8031insA (p.Pro2679SerfsTer10) c.866_867insA (p.Pro291SerfsTer10) c.8407_8408insA (n.8407_8408insA) c.964_965insA c.8303_8304insA (p.Pro2770SerfsTer10) | |
13 | g.32370469_32370470insAAAA | CA919242916 | BRCA2 | c.8399_8400insAAAA (p.Phe2801LysfsTer12) c.8030_8031insAAAA (p.Phe2678LysfsTer12) c.866_867insAAAA (p.Phe290LysfsTer12) c.8407_8408insAAAA (n.8407_8408insAAAA) c.964_965insAAAA c.8303_8304insAAAA (p.Phe2769LysfsTer12) | dbSNP |
13 | g.32370470T>A | CA483261207 | BRCA2 | c.8400T>A (p.Pro2800=) c.8031T>A (p.Pro2677=) c.867T>A (p.Pro289=) c.8408T>A (n.8408T>A) c.965T>A c.8304T>A (p.Pro2768=) | dbSNP |
13 | g.32370470T>C | CA483261205 | BRCA2 | c.8400T>C (p.Pro2800=) c.8031T>C (p.Pro2677=) c.867T>C (p.Pro289=) c.8408T>C (n.8408T>C) c.965T>C c.8304T>C (p.Pro2768=) | dbSNP |
13 | g.32370470T>G | CA483261204 | BRCA2 | c.8400T>G (p.Pro2800=) c.8031T>G (p.Pro2677=) c.867T>G (p.Pro289=) c.8408T>G (n.8408T>G) c.965T>G c.8304T>G (p.Pro2768=) | |
13 | g.32370470_32370472delinsAAAA | CA645509335 | BRCA2 | c.8400_8402delinsAAAA (p.Phe2801LysfsTer11) c.8031_8033delinsAAAA (p.Phe2678LysfsTer11) c.867_869delinsAAAA (p.Phe290LysfsTer11) c.8408_8410delinsAAAA (n.8408_8410delinsAAAA) c.965_967delinsAAAA c.8304_8306delinsAAAA (p.Phe2769LysfsTer11) | ClinVar dbSNP |
13 | g.32370470_32370473delinsTTTT | CA2082813698 | BRCA2 | c.8400_8403delinsTTTT (p.Pro2800=) c.8031_8034delinsTTTT (p.Pro2677=) c.867_870delinsTTTT (p.Pro289=) c.8408_8411delinsTTTT (n.8408_8411delinsTTTT) c.965_968delinsTTTT c.8304_8307delinsTTTT (p.Pro2768=) | |
13 | g.32370470_32370473delinsAAAAC | CA2499222329 | BRCA2 | c.8400_8403delinsAAAAC (p.Phe2801LysfsTer11) c.8031_8034delinsAAAAC (p.Phe2678LysfsTer11) c.867_870delinsAAAAC (p.Phe290LysfsTer11) c.8408_8411delinsAAAAC (n.8408_8411delinsAAAAC) c.965_968delinsAAAAC c.8304_8307delinsAAAAC (p.Phe2769LysfsTer11) | |
13 | g.32370473del | CA915946894 | BRCA2 | c.8403del (p.Pro2802LeufsTer19) c.8034del (p.Pro2679LeufsTer19) c.870del (p.Pro291LeufsTer19) c.8411del (n.8411del) c.968del c.8307del (p.Pro2770LeufsTer19) | ClinVar dbSNP |
13 | g.32370471_32370473del | CA2825002153 | BRCA2 | c.8401_8403del (p.Phe2801del) c.8032_8034del (p.Phe2678del) c.868_870del (p.Phe290del) c.8409_8411del (n.8409_8411del) c.966_968del c.8305_8307del (p.Phe2769del) | ClinVar |
13 | g.32370471T>A | CA387752493 | BRCA2 | c.8401T>A (p.Phe2801Ile) c.8032T>A (p.Phe2678Ile) c.868T>A (p.Phe290Ile) c.8409T>A (n.8409T>A) c.966T>A c.8305T>A (p.Phe2769Ile) | |
13 | g.32370471T>C | CA387752492 | BRCA2 | c.8401T>C (p.Phe2801Leu) c.8032T>C (p.Phe2678Leu) c.868T>C (p.Phe290Leu) c.8409T>C (n.8409T>C) c.966T>C c.8305T>C (p.Phe2769Leu) | ClinVar dbSNP |
13 | g.32370471T>G | CA387752494 | BRCA2 | c.8401T>G (p.Phe2801Val) c.8032T>G (p.Phe2678Val) c.868T>G (p.Phe290Val) c.8409T>G (n.8409T>G) c.966T>G c.8305T>G (p.Phe2769Val) | |
13 | g.32370471T= | CA2082813714 | BRCA2 | c.8401T= (p.Phe2801=) c.8032T= (p.Phe2678=) c.868T= (p.Phe290=) c.8409T= (n.8409T=) c.966T= c.8305T= (p.Phe2769=) | |
13 | g.32370471_32370473delinsAAAA | CA10589495 | BRCA2 | c.8401_8403delinsAAAA (p.Phe2801LysfsTer11) c.8032_8034delinsAAAA (p.Phe2678LysfsTer11) c.868_870delinsAAAA (p.Phe290LysfsTer11) c.8409_8411delinsAAAA (n.8409_8411delinsAAAA) c.966_968delinsAAAA c.8305_8307delinsAAAA (p.Phe2769LysfsTer11) | ClinVar dbSNP |
13 | g.32370471_32370472insAAAA | CA919242918 | BRCA2 | c.8401_8402insAAAA (p.Phe2801Ter) c.8032_8033insAAAA (p.Phe2678Ter) c.868_869insAAAA (p.Phe290Ter) c.8409_8410insAAAA (n.8409_8410insAAAA) c.966_967insAAAA c.8305_8306insAAAA (p.Phe2769Ter) | dbSNP |
13 | g.32370472T>A | CA387752495 | BRCA2 | c.8402T>A (p.Phe2801Tyr) c.8033T>A (p.Phe2678Tyr) c.869T>A (p.Phe290Tyr) c.8410T>A (n.8410T>A) c.967T>A c.8306T>A (p.Phe2769Tyr) | |
13 | g.32370472T>C | CA387752497 | BRCA2 | c.8402T>C (p.Phe2801Ser) c.8033T>C (p.Phe2678Ser) c.869T>C (p.Phe290Ser) c.8410T>C (n.8410T>C) c.967T>C c.8306T>C (p.Phe2769Ser) | dbSNP |
13 | g.32370472T>G | CA387752496 | BRCA2 | c.8402T>G (p.Phe2801Cys) c.8033T>G (p.Phe2678Cys) c.869T>G (p.Phe290Cys) c.8410T>G (n.8410T>G) c.967T>G c.8306T>G (p.Phe2769Cys) | |
13 | g.32370472_32370473insAAAA | CA2499222330 | BRCA2 | c.8402_8403insAAAA (p.Phe2801LeufsTer12) c.8033_8034insAAAA (p.Phe2678LeufsTer12) c.869_870insAAAA (p.Phe290LeufsTer12) c.8410_8411insAAAA (n.8410_8411insAAAA) c.967_968insAAAA c.8306_8307insAAAA (p.Phe2769LeufsTer12) | |
13 | g.32370473T>A | CA387752498 | BRCA2 | c.8403T>A (p.Phe2801Leu) c.8034T>A (p.Phe2678Leu) c.870T>A (p.Phe290Leu) c.8411T>A (n.8411T>A) c.968T>A c.8307T>A (p.Phe2769Leu) | dbSNP |
13 | g.32370473T>C | CA483261208 | BRCA2 | c.8403T>C (p.Phe2801=) c.8034T>C (p.Phe2678=) c.870T>C (p.Phe290=) c.8411T>C (n.8411T>C) c.968T>C c.8307T>C (p.Phe2769=) | ClinVar dbSNP |
13 | g.32370473T>G | CA387752499 | BRCA2 | c.8403T>G (p.Phe2801Leu) c.8034T>G (p.Phe2678Leu) c.870T>G (p.Phe290Leu) c.8411T>G (n.8411T>G) c.968T>G c.8307T>G (p.Phe2769Leu) | |
13 | g.32370474C>A | CA387752500 | BRCA2 | c.8404C>A (p.Pro2802Thr) c.8035C>A (p.Pro2679Thr) c.871C>A (p.Pro291Thr) c.8412C>A (n.8412C>A) c.969C>A c.8308C>A (p.Pro2770Thr) | dbSNP |
13 | g.32370474C= | CA2082813730 | BRCA2 | c.8404C= (p.Pro2802=) c.8035C= (p.Pro2679=) c.871C= (p.Pro291=) c.8412C= (n.8412C=) c.969C= c.8308C= (p.Pro2770=) | |
13 | g.32370474C>G | CA10579782 | BRCA2 | c.8404C>G (p.Pro2802Ala) c.8035C>G (p.Pro2679Ala) c.871C>G (p.Pro291Ala) c.8412C>G (n.8412C>G) c.969C>G c.8308C>G (p.Pro2770Ala) | ClinVar dbSNP |
13 | g.32370474C>T | CA387752501 | BRCA2 | c.8404C>T (p.Pro2802Ser) c.8035C>T (p.Pro2679Ser) c.871C>T (p.Pro291Ser) c.8412C>T (n.8412C>T) c.969C>T c.8308C>T (p.Pro2770Ser) | dbSNP |
13 | g.32370474_32370475delinsT | CA2695199690 | BRCA2 | c.8404_8405delinsT (p.Pro2802PhefsTer19) c.8035_8036delinsT (p.Pro2679PhefsTer19) c.871_872delinsT (p.Pro291PhefsTer19) c.8412_8413delinsT (n.8412_8413delinsT) c.969_970delinsT c.8308_8309delinsT (p.Pro2770PhefsTer19) | ClinVar |
13 | g.32370475del | CA2580087364 | BRCA2 | c.8405del (p.Pro2802LeufsTer19) c.8036del (p.Pro2679LeufsTer19) c.872del (p.Pro291LeufsTer19) c.8413del (n.8413del) c.970del c.8309del (p.Pro2770LeufsTer19) | ClinVar |
13 | g.32370475C>A | CA387752502 | BRCA2 | c.8405C>A (p.Pro2802His) c.8036C>A (p.Pro2679His) c.872C>A (p.Pro291His) c.8413C>A (n.8413C>A) c.970C>A c.8309C>A (p.Pro2770His) | dbSNP |
13 | g.32370475C= | CA2082813745 | BRCA2 | c.8405C= (p.Pro2802=) c.8036C= (p.Pro2679=) c.872C= (p.Pro291=) c.8413C= (n.8413C=) c.970C= c.8309C= (p.Pro2770=) | |
13 | g.32370475C>G | CA025628 | BRCA2 | c.8405C>G (p.Pro2802Arg) c.8036C>G (p.Pro2679Arg) c.872C>G (p.Pro291Arg) c.8413C>G (n.8413C>G) c.970C>G c.8309C>G (p.Pro2770Arg) | ClinVar dbSNP |
13 | g.32370475C>T | CA387752503 | BRCA2 | c.8405C>T (p.Pro2802Leu) c.8036C>T (p.Pro2679Leu) c.872C>T (p.Pro291Leu) c.8413C>T (n.8413C>T) c.970C>T c.8309C>T (p.Pro2770Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32370476T>A | CA483261209 | BRCA2 | c.8406T>A (p.Pro2802=) c.8037T>A (p.Pro2679=) c.873T>A (p.Pro291=) c.8414T>A (n.8414T>A) c.971T>A c.8310T>A (p.Pro2770=) | dbSNP |
13 | g.32370476T>C | CA483261210 | BRCA2 | c.8406T>C (p.Pro2802=) c.8037T>C (p.Pro2679=) c.873T>C (p.Pro291=) c.8414T>C (n.8414T>C) c.971T>C c.8310T>C (p.Pro2770=) | dbSNP gnomAD v4 |
13 | g.32370476T>G | CA483261211 | BRCA2 | c.8406T>G (p.Pro2802=) c.8037T>G (p.Pro2679=) c.873T>G (p.Pro291=) c.8414T>G (n.8414T>G) c.971T>G c.8310T>G (p.Pro2770=) | ClinVar |
13 | g.32370477C>A | CA387752504 | BRCA2 | c.8407C>A (p.Leu2803Met) c.8038C>A (p.Leu2680Met) c.874C>A (p.Leu292Met) c.8415C>A (n.8415C>A) c.972C>A c.8311C>A (p.Leu2771Met) | dbSNP |
13 | g.32370477C= | CA2082813750 | BRCA2 | c.8407C= (p.Leu2803=) c.8038C= (p.Leu2680=) c.874C= (p.Leu292=) c.8415C= (n.8415C=) c.972C= c.8311C= (p.Leu2771=) | |
13 | g.32370477C>G | CA387752505 | BRCA2 | c.8407C>G (p.Leu2803Val) c.8038C>G (p.Leu2680Val) c.874C>G (p.Leu292Val) c.8415C>G (n.8415C>G) c.972C>G c.8311C>G (p.Leu2771Val) | dbSNP |
13 | g.32370477C>T | CA483261212 | BRCA2 | c.8407C>T (p.Leu2803=) c.8038C>T (p.Leu2680=) c.874C>T (p.Leu292=) c.8415C>T (n.8415C>T) c.972C>T c.8311C>T (p.Leu2771=) | ClinVar dbSNP |
13 | g.32370478T>A | CA387752506 | BRCA2 | c.8408T>A (p.Leu2803Gln) c.8039T>A (p.Leu2680Gln) c.875T>A (p.Leu292Gln) c.8416T>A (n.8416T>A) c.973T>A c.8312T>A (p.Leu2771Gln) | gnomAD v4 |
13 | g.32370478T>C | CA387752507 | BRCA2 | c.8408T>C (p.Leu2803Pro) c.8039T>C (p.Leu2680Pro) c.875T>C (p.Leu292Pro) c.8416T>C (n.8416T>C) c.973T>C c.8312T>C (p.Leu2771Pro) | |
13 | g.32370478T>G | CA387752508 | BRCA2 | c.8408T>G (p.Leu2803Arg) c.8039T>G (p.Leu2680Arg) c.875T>G (p.Leu292Arg) c.8416T>G (n.8416T>G) c.973T>G c.8312T>G (p.Leu2771Arg) | ClinVar gnomAD v4 |
13 | g.32370479G>A | CA483261213 | BRCA2 | c.8409G>A (p.Leu2803=) c.8040G>A (p.Leu2680=) c.876G>A (p.Leu292=) c.8417G>A (n.8417G>A) c.974G>A c.8313G>A (p.Leu2771=) | dbSNP |
13 | g.32370479G>C | CA483261215 | BRCA2 | c.8409G>C (p.Leu2803=) c.8040G>C (p.Leu2680=) c.876G>C (p.Leu292=) c.8417G>C (n.8417G>C) c.974G>C c.8313G>C (p.Leu2771=) | ClinVar dbSNP |
13 | g.32370479G>T | CA483261216 | BRCA2 | c.8409G>T (p.Leu2803=) c.8040G>T (p.Leu2680=) c.876G>T (p.Leu292=) c.8417G>T (n.8417G>T) c.974G>T c.8313G>T (p.Leu2771=) | ClinVar dbSNP |
13 | g.32370480C>A | CA387752509 | BRCA2 | c.8410C>A (p.Pro2804Thr) c.8041C>A (p.Pro2681Thr) c.877C>A (p.Pro293Thr) c.8418C>A (n.8418C>A) c.975C>A c.8314C>A (p.Pro2772Thr) | dbSNP |
13 | g.32370480C= | CA2082813753 | BRCA2 | c.8410C= (p.Pro2804=) c.8041C= (p.Pro2681=) c.877C= (p.Pro293=) c.8418C= (n.8418C=) c.975C= c.8314C= (p.Pro2772=) | |
13 | g.32370480C>G | CA6941227 | BRCA2 | c.8410C>G (p.Pro2804Ala) c.8041C>G (p.Pro2681Ala) c.877C>G (p.Pro293Ala) c.8418C>G (n.8418C>G) c.975C>G c.8314C>G (p.Pro2772Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370480C>T | CA387752510 | BRCA2 | c.8410C>T (p.Pro2804Ser) c.8041C>T (p.Pro2681Ser) c.877C>T (p.Pro293Ser) c.8418C>T (n.8418C>T) c.975C>T c.8314C>T (p.Pro2772Ser) | dbSNP |
13 | g.32370481C>A | CA10579783 | BRCA2 | c.8411C>A (p.Pro2804His) c.8042C>A (p.Pro2681His) c.878C>A (p.Pro293His) c.8419C>A (n.8419C>A) c.976C>A c.8315C>A (p.Pro2772His) | ClinVar dbSNP |
13 | g.32370481C= | CA2082813761 | BRCA2 | c.8411C= (p.Pro2804=) c.8042C= (p.Pro2681=) c.878C= (p.Pro293=) c.8419C= (n.8419C=) c.976C= c.8315C= (p.Pro2772=) | |
13 | g.32370481C>G | CA387752511 | BRCA2 | c.8411C>G (p.Pro2804Arg) c.8042C>G (p.Pro2681Arg) c.878C>G (p.Pro293Arg) c.8419C>G (n.8419C>G) c.976C>G c.8315C>G (p.Pro2772Arg) | dbSNP |
13 | g.32370481C>T | CA16613964 | BRCA2 | c.8411C>T (p.Pro2804Leu) c.8042C>T (p.Pro2681Leu) c.878C>T (p.Pro293Leu) c.8419C>T (n.8419C>T) c.976C>T c.8315C>T (p.Pro2772Leu) | ClinVar dbSNP |
13 | g.32370482C>A | CA483261217 | BRCA2 | c.8412C>A (p.Pro2804=) c.8043C>A (p.Pro2681=) c.879C>A (p.Pro293=) c.8420C>A (n.8420C>A) c.977C>A c.8316C>A (p.Pro2772=) | dbSNP |
13 | g.32370482C= | CA2082813772 | BRCA2 | c.8412C= (p.Pro2804=) c.8043C= (p.Pro2681=) c.879C= (p.Pro293=) c.8420C= (n.8420C=) c.977C= c.8316C= (p.Pro2772=) | |
13 | g.32370482C>G | CA483261218 | BRCA2 | c.8412C>G (p.Pro2804=) c.8043C>G (p.Pro2681=) c.879C>G (p.Pro293=) c.8420C>G (n.8420C>G) c.977C>G c.8316C>G (p.Pro2772=) | dbSNP |
13 | g.32370482C>T | CA6941228 | BRCA2 | c.8412C>T (p.Pro2804=) c.8043C>T (p.Pro2681=) c.879C>T (p.Pro293=) c.8420C>T (n.8420C>T) c.977C>T c.8316C>T (p.Pro2772=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370483T>A | CA387752512 | BRCA2 | c.8413T>A (p.Leu2805Ile) c.8044T>A (p.Leu2682Ile) c.880T>A (p.Leu294Ile) c.8421T>A (n.8421T>A) c.978T>A c.8317T>A (p.Leu2773Ile) | ClinVar dbSNP |
13 | g.32370483T>C | CA483261221 | BRCA2 | c.8413T>C (p.Leu2805=) c.8044T>C (p.Leu2682=) c.880T>C (p.Leu294=) c.8421T>C (n.8421T>C) c.978T>C c.8317T>C (p.Leu2773=) | dbSNP |
13 | g.32370483T>G | CA387752513 | BRCA2 | c.8413T>G (p.Leu2805Val) c.8044T>G (p.Leu2682Val) c.880T>G (p.Leu294Val) c.8421T>G (n.8421T>G) c.978T>G c.8317T>G (p.Leu2773Val) | |
13 | g.32370483T= | CA2082813779 | BRCA2 | c.8413T= (p.Leu2805=) c.8044T= (p.Leu2682=) c.880T= (p.Leu294=) c.8421T= (n.8421T=) c.978T= c.8317T= (p.Leu2773=) | |
13 | g.32370484dup | CA2499222331 | BRCA2 | c.8414dup (p.Leu2805PhefsTer7) c.8045dup (p.Leu2682PhefsTer7) c.881dup (p.Leu294PhefsTer7) c.8422dup (n.8422dup) c.979dup c.8318dup (p.Leu2773PhefsTer7) | ClinVar |
13 | g.32370483_32370486delinsTTAT | CA2082813778 | BRCA2 | c.8413_8416delinsTTAT (p.Leu2805=) c.8044_8047delinsTTAT (p.Leu2682=) c.880_883delinsTTAT (p.Leu294=) c.8421_8424delinsTTAT (n.8421_8424delinsTTAT) c.978_981delinsTTAT c.8317_8320delinsTTAT (p.Leu2773=) | |
13 | g.32370484T>A | CA387752514 | BRCA2 | c.8414T>A (p.Leu2805Ter) c.8045T>A (p.Leu2682Ter) c.881T>A (p.Leu294Ter) c.8422T>A (n.8422T>A) c.979T>A c.8318T>A (p.Leu2773Ter) | |
13 | g.32370484T>C | CA025630 | BRCA2 | c.8414T>C (p.Leu2805Ser) c.8045T>C (p.Leu2682Ser) c.881T>C (p.Leu294Ser) c.8422T>C (n.8422T>C) c.979T>C c.8318T>C (p.Leu2773Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370484T>G | CA387752515 | BRCA2 | c.8414T>G (p.Leu2805Ter) c.8045T>G (p.Leu2682Ter) c.881T>G (p.Leu294Ter) c.8422T>G (n.8422T>G) c.979T>G c.8318T>G (p.Leu2773Ter) | |
13 | g.32370484T= | CA2082813796 | BRCA2 | c.8414T= (p.Leu2805=) c.8045T= (p.Leu2682=) c.881T= (p.Leu294=) c.8422T= (n.8422T=) c.979T= c.8318T= (p.Leu2773=) | |
13 | g.32370484_32370486delinsC | CA025629 | BRCA2 | c.8414_8416delinsC (p.Leu2805SerfsTer6) c.8045_8047delinsC (p.Leu2682SerfsTer6) c.881_883delinsC (p.Leu294SerfsTer6) c.8422_8424delinsC (n.8422_8424delinsC) c.979_981delinsC c.8318_8320delinsC (p.Leu2773SerfsTer6) | ClinVar dbSNP |
13 | g.32370485_32370486del | CA025631 | BRCA2 | c.8415_8416del (p.Leu2805PhefsTer6) c.8046_8047del (p.Leu2682PhefsTer6) c.882_883del (p.Leu294PhefsTer6) c.8423_8424del (n.8423_8424del) c.980_981del c.8319_8320del (p.Leu2773PhefsTer6) | ClinVar dbSNP gnomAD v4 |
13 | g.32370484_32370487delinsTATC | CA2082813795 | BRCA2 | c.8414_8417delinsTATC (p.Leu2805=) c.8045_8048delinsTATC (p.Leu2682=) c.881_884delinsTATC (p.Leu294=) c.8422_8425delinsTATC (n.8422_8425delinsTATC) c.979_982delinsTATC c.8318_8321delinsTATC (p.Leu2773=) | |
13 | g.32370485A>C | CA387752516 | BRCA2 | c.8415A>C (p.Leu2805Phe) c.8046A>C (p.Leu2682Phe) c.882A>C (p.Leu294Phe) c.8423A>C (n.8423A>C) c.980A>C c.8319A>C (p.Leu2773Phe) | |
13 | g.32370485A>G | CA483261222 | BRCA2 | c.8415A>G (p.Leu2805=) c.8046A>G (p.Leu2682=) c.882A>G (p.Leu294=) c.8423A>G (n.8423A>G) c.980A>G c.8319A>G (p.Leu2773=) | ClinVar dbSNP |
13 | g.32370485A>T | CA387752517 | BRCA2 | c.8415A>T (p.Leu2805Phe) c.8046A>T (p.Leu2682Phe) c.882A>T (p.Leu294Phe) c.8423A>T (n.8423A>T) c.980A>T c.8319A>T (p.Leu2773Phe) | dbSNP |
13 | g.32370485dup | CA025632 | BRCA2 | c.8415dup (p.Ser2806IlefsTer6) c.8046dup (p.Ser2683IlefsTer6) c.882dup (p.Ser295IlefsTer6) c.8423dup (n.8423dup) c.980dup c.8319dup (p.Ser2774IlefsTer6) | ClinVar dbSNP |
13 | g.32370485_32370486delinsAT | CA2082813815 | BRCA2 | c.8415_8416delinsAT (p.Leu2805=) c.8046_8047delinsAT (p.Leu2682=) c.882_883delinsAT (p.Leu294=) c.8423_8424delinsAT (n.8423_8424delinsAT) c.980_981delinsAT c.8319_8320delinsAT (p.Leu2773=) | |
13 | g.32370488_32370490del | CA16614010 | BRCA2 | c.8418_8420del (p.Ser2807del) c.8049_8051del (p.Ser2684del) c.885_887del (p.Ser296del) c.8426_8428del (n.8426_8428del) c.983_985del c.8322_8324del (p.Ser2775del) | ClinVar dbSNP |
13 | g.32370485_32370495delinsATCATCGCTTT | CA2082813814 | BRCA2 | c.8415_8425delinsATCATCGCTTT (p.Leu2805=) c.8046_8056delinsATCATCGCTTT (p.Leu2682=) c.882_892delinsATCATCGCTTT (p.Leu294=) c.8423_8433delinsATCATCGCTTT (n.8423_8433delinsATCATCGCTTT) c.980_990delinsATCATCGCTTT c.8319_8329delinsATCATCGCTTT (p.Leu2773=) | |
13 | g.32370486del | CA891843895 | BRCA2 | c.8416del (p.Ser2806HisfsTer15) c.8047del (p.Ser2683HisfsTer15) c.883del (p.Ser295HisfsTer15) c.8424del (n.8424del) c.981del c.8320del (p.Ser2774HisfsTer15) | ClinVar dbSNP |
13 | g.32370486T>A | CA387752519 | BRCA2 | c.8416T>A (p.Ser2806Thr) c.8047T>A (p.Ser2683Thr) c.883T>A (p.Ser295Thr) c.8424T>A (n.8424T>A) c.981T>A c.8320T>A (p.Ser2774Thr) | dbSNP |
13 | g.32370486T>C | CA387752518 | BRCA2 | c.8416T>C (p.Ser2806Pro) c.8047T>C (p.Ser2683Pro) c.883T>C (p.Ser295Pro) c.8424T>C (n.8424T>C) c.981T>C c.8320T>C (p.Ser2774Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32370486T>G | CA387752520 | BRCA2 | c.8416T>G (p.Ser2806Ala) c.8047T>G (p.Ser2683Ala) c.883T>G (p.Ser295Ala) c.8424T>G (n.8424T>G) c.981T>G c.8320T>G (p.Ser2774Ala) | |
13 | g.32370486T= | CA2082813829 | BRCA2 | c.8416T= (p.Ser2806=) c.8047T= (p.Ser2683=) c.883T= (p.Ser295=) c.8424T= (n.8424T=) c.981T= c.8320T= (p.Ser2774=) | |
13 | g.32370489_32370498del | CA354140 | BRCA2 | c.8419_8428del (p.Ser2807ValfsTer11) c.8050_8059del (p.Ser2684ValfsTer11) c.886_895del (p.Ser296ValfsTer11) c.8427_8436del (n.8427_8436del) c.984_993del c.8323_8332del (p.Ser2775ValfsTer11) | ClinVar dbSNP |
13 | g.32370487C>A | CA387752521 | BRCA2 | c.8417C>A (p.Ser2806Ter) c.8048C>A (p.Ser2683Ter) c.884C>A (p.Ser295Ter) c.8425C>A (n.8425C>A) c.982C>A c.8321C>A (p.Ser2774Ter) | ClinVar dbSNP |
13 | g.32370487C= | CA2082813838 | BRCA2 | c.8417C= (p.Ser2806=) c.8048C= (p.Ser2683=) c.884C= (p.Ser295=) c.8425C= (n.8425C=) c.982C= c.8321C= (p.Ser2774=) | |
13 | g.32370487C>G | CA387752522 | BRCA2 | c.8417C>G (p.Ser2806Ter) c.8048C>G (p.Ser2683Ter) c.884C>G (p.Ser295Ter) c.8425C>G (n.8425C>G) c.982C>G c.8321C>G (p.Ser2774Ter) | ClinVar dbSNP |
13 | g.32370487C>T | CA025633 | BRCA2 | c.8417C>T (p.Ser2806Leu) c.8048C>T (p.Ser2683Leu) c.884C>T (p.Ser295Leu) c.8425C>T (n.8425C>T) c.982C>T c.8321C>T (p.Ser2774Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370488A= | CA2082813848 | BRCA2 | c.8418A= (p.Ser2806=) c.8049A= (p.Ser2683=) c.885A= (p.Ser295=) c.8426A= (n.8426A=) c.983A= c.8322A= (p.Ser2774=) | |
13 | g.32370488A>C | CA483261227 | BRCA2 | c.8418A>C (p.Ser2806=) c.8049A>C (p.Ser2683=) c.885A>C (p.Ser295=) c.8426A>C (n.8426A>C) c.983A>C c.8322A>C (p.Ser2774=) | ClinVar |
13 | g.32370488A>G | CA483261228 | BRCA2 | c.8418A>G (p.Ser2806=) c.8049A>G (p.Ser2683=) c.885A>G (p.Ser295=) c.8426A>G (n.8426A>G) c.983A>G c.8322A>G (p.Ser2774=) | ClinVar dbSNP |
13 | g.32370488A>T | CA483261229 | BRCA2 | c.8418A>T (p.Ser2806=) c.8049A>T (p.Ser2683=) c.885A>T (p.Ser295=) c.8426A>T (n.8426A>T) c.983A>T c.8322A>T (p.Ser2774=) | ClinVar dbSNP gnomAD v4 |
13 | g.32370489T>A | CA387752523 | BRCA2 | c.8419T>A (p.Ser2807Thr) c.8050T>A (p.Ser2684Thr) c.886T>A (p.Ser296Thr) c.8427T>A (n.8427T>A) c.984T>A c.8323T>A (p.Ser2775Thr) | |
13 | g.32370489T>C | CA387752524 | BRCA2 | c.8419T>C (p.Ser2807Pro) c.8050T>C (p.Ser2684Pro) c.886T>C (p.Ser296Pro) c.8427T>C (n.8427T>C) c.984T>C c.8323T>C (p.Ser2775Pro) | ClinVar dbSNP |
13 | g.32370489T>G | CA387752525 | BRCA2 | c.8419T>G (p.Ser2807Ala) c.8050T>G (p.Ser2684Ala) c.886T>G (p.Ser296Ala) c.8427T>G (n.8427T>G) c.984T>G c.8323T>G (p.Ser2775Ala) | |
13 | g.32370489T= | CA2082813857 | BRCA2 | c.8419T= (p.Ser2807=) c.8050T= (p.Ser2684=) c.886T= (p.Ser296=) c.8427T= (n.8427T=) c.984T= c.8323T= (p.Ser2775=) | |
13 | g.32370490C>A | CA336160 | BRCA2 | c.8420C>A (p.Ser2807Ter) c.8051C>A (p.Ser2684Ter) c.887C>A (p.Ser296Ter) c.8428C>A (n.8428C>A) c.985C>A c.8324C>A (p.Ser2775Ter) | ClinVar dbSNP |
13 | g.32370490C= | CA2082813876 | BRCA2 | c.8420C= (p.Ser2807=) c.8051C= (p.Ser2684=) c.887C= (p.Ser296=) c.8428C= (n.8428C=) c.985C= c.8324C= (p.Ser2775=) | |
13 | g.32370490C>G | CA387752526 | BRCA2 | c.8420C>G (p.Ser2807Trp) c.8051C>G (p.Ser2684Trp) c.887C>G (p.Ser296Trp) c.8428C>G (n.8428C>G) c.985C>G c.8324C>G (p.Ser2775Trp) | dbSNP |
13 | g.32370490C>T | CA025635 | BRCA2 | c.8420C>T (p.Ser2807Leu) c.8051C>T (p.Ser2684Leu) c.887C>T (p.Ser296Leu) c.8428C>T (n.8428C>T) c.985C>T c.8324C>T (p.Ser2775Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370491G>A | CA025636 | BRCA2 | c.8421G>A (p.Ser2807=) c.8052G>A (p.Ser2684=) c.888G>A (p.Ser296=) c.8429G>A (n.8429G>A) c.986G>A c.8325G>A (p.Ser2775=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32370491G>C | CA483261232 | BRCA2 | c.8421G>C (p.Ser2807=) c.8052G>C (p.Ser2684=) c.888G>C (p.Ser296=) c.8429G>C (n.8429G>C) c.986G>C c.8325G>C (p.Ser2775=) | ClinVar dbSNP |
13 | g.32370491G= | CA2082813888 | BRCA2 | c.8421G= (p.Ser2807=) c.8052G= (p.Ser2684=) c.888G= (p.Ser296=) c.8429G= (n.8429G=) c.986G= c.8325G= (p.Ser2775=) | |
13 | g.32370491G>T | CA483261233 | BRCA2 | c.8421G>T (p.Ser2807=) c.8052G>T (p.Ser2684=) c.888G>T (p.Ser296=) c.8429G>T (n.8429G>T) c.986G>T c.8325G>T (p.Ser2775=) | dbSNP |
13 | g.32370492C>A | CA387752528 | BRCA2 | c.8422C>A (p.Leu2808Ile) c.8053C>A (p.Leu2685Ile) c.889C>A (p.Leu297Ile) c.8430C>A (n.8430C>A) c.987C>A c.8326C>A (p.Leu2776Ile) | |
13 | g.32370492C= | CA2082813913 | BRCA2 | c.8422C= (p.Leu2808=) c.8053C= (p.Leu2685=) c.889C= (p.Leu297=) c.8430C= (n.8430C=) c.987C= c.8326C= (p.Leu2776=) | |
13 | g.32370492C>G | CA025637 | BRCA2 | c.8422C>G (p.Leu2808Val) c.8053C>G (p.Leu2685Val) c.889C>G (p.Leu297Val) c.8430C>G (n.8430C>G) c.987C>G c.8326C>G (p.Leu2776Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370492C>T | CA387752527 | BRCA2 | c.8422C>T (p.Leu2808Phe) c.8053C>T (p.Leu2685Phe) c.889C>T (p.Leu297Phe) c.8430C>T (n.8430C>T) c.987C>T c.8326C>T (p.Leu2776Phe) | COSMIC COSMIC |
13 | g.32370492_32370493delinsCT | CA2082813914 | BRCA2 | c.8422_8423delinsCT (p.Leu2808=) c.8053_8054delinsCT (p.Leu2685=) c.889_890delinsCT (p.Leu297=) c.8430_8431delinsCT (n.8430_8431delinsCT) c.987_988delinsCT c.8326_8327delinsCT (p.Leu2776=) | |
13 | g.32370492_32370497delinsCTTTTC | CA2082813915 | BRCA2 | c.8422_8427delinsCTTTTC (p.Leu2808=) c.8053_8058delinsCTTTTC (p.Leu2685=) c.889_894delinsCTTTTC (p.Leu297=) c.8430_8435delinsCTTTTC (n.8430_8435delinsCTTTTC) c.987_992delinsCTTTTC c.8326_8331delinsCTTTTC (p.Leu2776=) | |
13 | g.32370493T>A | CA387752529 | BRCA2 | c.8423T>A (p.Leu2808His) c.8054T>A (p.Leu2685His) c.890T>A (p.Leu297His) c.8431T>A (n.8431T>A) c.988T>A c.8327T>A (p.Leu2776His) | dbSNP |
13 | g.32370493T>C | CA025638 | BRCA2 | c.8423T>C (p.Leu2808Pro) c.8054T>C (p.Leu2685Pro) c.890T>C (p.Leu297Pro) c.8431T>C (n.8431T>C) c.988T>C c.8327T>C (p.Leu2776Pro) | ClinVar dbSNP |
13 | g.32370493T>G | CA387752530 | BRCA2 | c.8423T>G (p.Leu2808Arg) c.8054T>G (p.Leu2685Arg) c.890T>G (p.Leu297Arg) c.8431T>G (n.8431T>G) c.988T>G c.8327T>G (p.Leu2776Arg) | |
13 | g.32370493T= | CA2082813931 | BRCA2 | c.8423T= (p.Leu2808=) c.8054T= (p.Leu2685=) c.890T= (p.Leu297=) c.8431T= (n.8431T=) c.988T= c.8327T= (p.Leu2776=) | |
13 | g.32370496dup | CA16613965 | BRCA2 | c.8426dup (p.Ser2810GlnfsTer2) c.8057dup (p.Ser2687GlnfsTer2) c.893dup (p.Ser299GlnfsTer2) c.8434dup (n.8434dup) c.991dup c.8330dup (p.Ser2778GlnfsTer2) | ClinVar dbSNP |
13 | g.32370496del | CA891843896 | BRCA2 | c.8426del (p.Phe2809SerfsTer12) c.8057del (p.Phe2686SerfsTer12) c.893del (p.Phe298SerfsTer12) c.8434del (n.8434del) c.991del c.8330del (p.Phe2777SerfsTer12) | ClinVar dbSNP |
13 | g.32370493_32370497delinsA | CA2082813938 | BRCA2 | c.8423_8427delinsA (p.Leu2808GlnfsTer12) c.8054_8058delinsA (p.Leu2685GlnfsTer12) c.890_894delinsA (p.Leu297GlnfsTer12) c.8431_8435delinsA (n.8431_8435delinsA) c.988_992delinsA c.8327_8331delinsA (p.Leu2776GlnfsTer12) | ClinVar dbSNP |
13 | g.32370494T>A | CA483261238 | BRCA2 | c.8424T>A (p.Leu2808=) c.8055T>A (p.Leu2685=) c.891T>A (p.Leu297=) c.8432T>A (n.8432T>A) c.989T>A c.8328T>A (p.Leu2776=) | |
13 | g.32370494T>C | CA10579784 | BRCA2 | c.8424T>C (p.Leu2808=) c.8055T>C (p.Leu2685=) c.891T>C (p.Leu297=) c.8432T>C (n.8432T>C) c.989T>C c.8328T>C (p.Leu2776=) | ClinVar dbSNP gnomAD v4 |
13 | g.32370494T>G | CA483261237 | BRCA2 | c.8424T>G (p.Leu2808=) c.8055T>G (p.Leu2685=) c.891T>G (p.Leu297=) c.8432T>G (n.8432T>G) c.989T>G c.8328T>G (p.Leu2776=) | |
13 | g.32370494T= | CA2082813946 | BRCA2 | c.8424T= (p.Leu2808=) c.8055T= (p.Leu2685=) c.891T= (p.Leu297=) c.8432T= (n.8432T=) c.989T= c.8328T= (p.Leu2776=) | |
13 | g.32370495T>A | CA387752531 | BRCA2 | c.8425T>A (p.Phe2809Ile) c.8056T>A (p.Phe2686Ile) c.892T>A (p.Phe298Ile) c.8433T>A (n.8433T>A) c.990T>A c.8329T>A (p.Phe2777Ile) | dbSNP |
13 | g.32370495T>C | CA387752532 | BRCA2 | c.8425T>C (p.Phe2809Leu) c.8056T>C (p.Phe2686Leu) c.892T>C (p.Phe298Leu) c.8433T>C (n.8433T>C) c.990T>C c.8329T>C (p.Phe2777Leu) | dbSNP |
13 | g.32370495T>G | CA387752533 | BRCA2 | c.8425T>G (p.Phe2809Val) c.8056T>G (p.Phe2686Val) c.892T>G (p.Phe298Val) c.8433T>G (n.8433T>G) c.990T>G c.8329T>G (p.Phe2777Val) | |
13 | g.32370496T>A | CA387752534 | BRCA2 | c.8426T>A (p.Phe2809Tyr) c.8057T>A (p.Phe2686Tyr) c.893T>A (p.Phe298Tyr) c.8434T>A (n.8434T>A) c.991T>A c.8330T>A (p.Phe2777Tyr) | |
13 | g.32370496T>C | CA387752535 | BRCA2 | c.8426T>C (p.Phe2809Ser) c.8057T>C (p.Phe2686Ser) c.893T>C (p.Phe298Ser) c.8434T>C (n.8434T>C) c.991T>C c.8330T>C (p.Phe2777Ser) | dbSNP |
13 | g.32370496T>G | CA387752536 | BRCA2 | c.8426T>G (p.Phe2809Cys) c.8057T>G (p.Phe2686Cys) c.893T>G (p.Phe298Cys) c.8434T>G (n.8434T>G) c.991T>G c.8330T>G (p.Phe2777Cys) | |
13 | g.32370497C>A | CA387752537 | BRCA2 | c.8427C>A (p.Phe2809Leu) c.8058C>A (p.Phe2686Leu) c.894C>A (p.Phe298Leu) c.8435C>A (n.8435C>A) c.992C>A c.8331C>A (p.Phe2777Leu) | dbSNP |
13 | g.32370497C= | CA2082813958 | BRCA2 | c.8427C= (p.Phe2809=) c.8058C= (p.Phe2686=) c.894C= (p.Phe298=) c.8435C= (n.8435C=) c.992C= c.8331C= (p.Phe2777=) | |
13 | g.32370497C>G | CA387752538 | BRCA2 | c.8427C>G (p.Phe2809Leu) c.8058C>G (p.Phe2686Leu) c.894C>G (p.Phe298Leu) c.8435C>G (n.8435C>G) c.992C>G c.8331C>G (p.Phe2777Leu) | ClinVar dbSNP |
13 | g.32370497C>T | CA025639 | BRCA2 | c.8427C>T (p.Phe2809=) c.8058C>T (p.Phe2686=) c.894C>T (p.Phe298=) c.8435C>T (n.8435C>T) c.992C>T c.8331C>T (p.Phe2777=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370498A= | CA2082813968 | BRCA2 | c.8428A= (p.Ser2810=) c.8059A= (p.Ser2687=) c.895A= (p.Ser299=) c.8436A= (n.8436A=) c.993A= c.8332A= (p.Ser2778=) | |
13 | g.32370498A>C | CA025640 | BRCA2 | c.8428A>C (p.Ser2810Arg) c.8059A>C (p.Ser2687Arg) c.895A>C (p.Ser299Arg) c.8436A>C (n.8436A>C) c.993A>C c.8332A>C (p.Ser2778Arg) | ClinVar dbSNP |
13 | g.32370498A>G | CA025641 | BRCA2 | c.8428A>G (p.Ser2810Gly) c.8059A>G (p.Ser2687Gly) c.895A>G (p.Ser299Gly) c.8436A>G (n.8436A>G) c.993A>G c.8332A>G (p.Ser2778Gly) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
13 | g.32370498A>T | CA387752539 | BRCA2 | c.8428A>T (p.Ser2810Cys) c.8059A>T (p.Ser2687Cys) c.895A>T (p.Ser299Cys) c.8436A>T (n.8436A>T) c.993A>T c.8332A>T (p.Ser2778Cys) | ClinVar dbSNP |
13 | g.32370499G>A | CA387752542 | BRCA2 | c.8429G>A (p.Ser2810Asn) c.8060G>A (p.Ser2687Asn) c.896G>A (p.Ser299Asn) c.8437G>A (n.8437G>A) c.994G>A c.8333G>A (p.Ser2778Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.32370499G>C | CA387752540 | BRCA2 | c.8429G>C (p.Ser2810Thr) c.8060G>C (p.Ser2687Thr) c.896G>C (p.Ser299Thr) c.8437G>C (n.8437G>C) c.994G>C c.8333G>C (p.Ser2778Thr) | ClinVar dbSNP |
13 | g.32370499G= | CA2082813991 | BRCA2 | c.8429G= (p.Ser2810=) c.8060G= (p.Ser2687=) c.896G= (p.Ser299=) c.8437G= (n.8437G=) c.994G= c.8333G= (p.Ser2778=) | |
13 | g.32370499G>T | CA387752541 | BRCA2 | c.8429G>T (p.Ser2810Ile) c.8060G>T (p.Ser2687Ile) c.896G>T (p.Ser299Ile) c.8437G>T (n.8437G>T) c.994G>T c.8333G>T (p.Ser2778Ile) | |
13 | g.32370500T>A | CA387752543 | BRCA2 | c.8430T>A (p.Ser2810Arg) c.8061T>A (p.Ser2687Arg) c.897T>A (p.Ser299Arg) c.8438T>A (n.8438T>A) c.995T>A c.8334T>A (p.Ser2778Arg) | dbSNP |
13 | g.32370500T>C | CA483261241 | BRCA2 | c.8430T>C (p.Ser2810=) c.8061T>C (p.Ser2687=) c.897T>C (p.Ser299=) c.8438T>C (n.8438T>C) c.995T>C c.8334T>C (p.Ser2778=) | dbSNP gnomAD v4 |
13 | g.32370500T>G | CA10579785 | BRCA2 | c.8430T>G (p.Ser2810Arg) c.8061T>G (p.Ser2687Arg) c.897T>G (p.Ser299Arg) c.8438T>G (n.8438T>G) c.995T>G c.8334T>G (p.Ser2778Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370500T= | CA2082813996 | BRCA2 | c.8430T= (p.Ser2810=) c.8061T= (p.Ser2687=) c.897T= (p.Ser299=) c.8438T= (n.8438T=) c.995T= c.8334T= (p.Ser2778=) | |
13 | g.32370500_32370507delinsTGATGGAG | CA2082813998 | BRCA2 | c.8430_8437delinsTGATGGAG (p.Ser2810=) c.8061_8068delinsTGATGGAG (p.Ser2687=) c.897_904delinsTGATGGAG (p.Ser299=) c.8438_8445delinsTGATGGAG (n.8438_8445delinsTGATGGAG) c.995_1002delinsTGATGGAG c.8334_8341delinsTGATGGAG (p.Ser2778=) | |
13 | g.32370501G>A | CA387752544 | BRCA2 | c.8431G>A (p.Asp2811Asn) c.8062G>A (p.Asp2688Asn) c.898G>A (p.Asp300Asn) c.8439G>A (n.8439G>A) c.996G>A c.8335G>A (p.Asp2779Asn) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32370501G>C | CA387752545 | BRCA2 | c.8431G>C (p.Asp2811His) c.8062G>C (p.Asp2688His) c.898G>C (p.Asp300His) c.8439G>C (n.8439G>C) c.996G>C c.8335G>C (p.Asp2779His) | ClinVar dbSNP |
13 | g.32370501G= | CA2082814008 | BRCA2 | c.8431G= (p.Asp2811=) c.8062G= (p.Asp2688=) c.898G= (p.Asp300=) c.8439G= (n.8439G=) c.996G= c.8335G= (p.Asp2779=) | |
13 | g.32370501G>T | CA387752546 | BRCA2 | c.8431G>T (p.Asp2811Tyr) c.8062G>T (p.Asp2688Tyr) c.898G>T (p.Asp300Tyr) c.8439G>T (n.8439G>T) c.996G>T c.8335G>T (p.Asp2779Tyr) | |
13 | g.32370503_32370509del | CA1139663161 | BRCA2 | c.8433_8439del (p.Asp2811GlufsTer8) c.8064_8070del (p.Asp2688GlufsTer8) c.900_906del (p.Asp300GlufsTer8) c.8441_8447del (n.8441_8447del) c.998_1004del c.8337_8343del (p.Asp2779GlufsTer8) | ClinVar dbSNP |
13 | g.32370502A= | CA2082814014 | BRCA2 | c.8432A= (p.Asp2811=) c.8063A= (p.Asp2688=) c.899A= (p.Asp300=) c.8440A= (n.8440A=) c.997A= c.8336A= (p.Asp2779=) | |
13 | g.32370502A>C | CA387752547 | BRCA2 | c.8432A>C (p.Asp2811Ala) c.8063A>C (p.Asp2688Ala) c.899A>C (p.Asp300Ala) c.8440A>C (n.8440A>C) c.997A>C c.8336A>C (p.Asp2779Ala) | |
13 | g.32370502A>G | CA025642 | BRCA2 | c.8432A>G (p.Asp2811Gly) c.8063A>G (p.Asp2688Gly) c.899A>G (p.Asp300Gly) c.8440A>G (n.8440A>G) c.997A>G c.8336A>G (p.Asp2779Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370502A>T | CA387752548 | BRCA2 | c.8432A>T (p.Asp2811Val) c.8063A>T (p.Asp2688Val) c.899A>T (p.Asp300Val) c.8440A>T (n.8440A>T) c.997A>T c.8336A>T (p.Asp2779Val) | dbSNP |
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.32370503T>A | CA387752549 | BRCA2 | c.8433T>A (p.Asp2811Glu) c.8064T>A (p.Asp2688Glu) c.900T>A (p.Asp300Glu) c.8441T>A (n.8441T>A) c.998T>A c.8337T>A (p.Asp2779Glu) | |
13 | g.32370503T>C | CA483261243 | BRCA2 | c.8433T>C (p.Asp2811=) c.8064T>C (p.Asp2688=) c.900T>C (p.Asp300=) c.8441T>C (n.8441T>C) c.998T>C c.8337T>C (p.Asp2779=) | gnomAD v4 |
13 | g.32370503T>G | CA387752550 | BRCA2 | c.8433T>G (p.Asp2811Glu) c.8064T>G (p.Asp2688Glu) c.900T>G (p.Asp300Glu) c.8441T>G (n.8441T>G) c.998T>G c.8337T>G (p.Asp2779Glu) | |
13 | g.32370503T= | CA2082814022 | BRCA2 | c.8433T= (p.Asp2811=) c.8064T= (p.Asp2688=) c.900T= (p.Asp300=) c.8441T= (n.8441T=) c.998T= c.8337T= (p.Asp2779=) | |
13 | g.32370503_32370506delinsTGGA | CA2082814021 | BRCA2 | c.8433_8436delinsTGGA (p.Asp2811=) c.8064_8067delinsTGGA (p.Asp2688=) c.900_903delinsTGGA (p.Asp300=) c.8441_8444delinsTGGA (n.8441_8444delinsTGGA) c.998_1001delinsTGGA c.8337_8340delinsTGGA (p.Asp2779=) | |
13 | g.32370503_32370504insC | CA658823581 | BRCA2 | c.8433_8434insC (p.Gly2812ArgfsTer8) c.8064_8065insC (p.Gly2689ArgfsTer8) c.900_901insC (p.Gly301ArgfsTer8) c.8441_8442insC (n.8441_8442insC) c.998_999insC c.8337_8338insC (p.Gly2780ArgfsTer8) | ClinVar dbSNP |
13 | g.32370504G>A | CA387752553 | BRCA2 | c.8434G>A (p.Gly2812Arg) c.8065G>A (p.Gly2689Arg) c.901G>A (p.Gly301Arg) c.8442G>A (n.8442G>A) c.999G>A c.8338G>A (p.Gly2780Arg) | ClinVar dbSNP |
13 | g.32370504G>C | CA387752552 | BRCA2 | c.8434G>C (p.Gly2812Arg) c.8065G>C (p.Gly2689Arg) c.901G>C (p.Gly301Arg) c.8442G>C (n.8442G>C) c.999G>C c.8338G>C (p.Gly2780Arg) | dbSNP |
13 | g.32370504G= | CA2082814034 | BRCA2 | c.8434G= (p.Gly2812=) c.8065G= (p.Gly2689=) c.901G= (p.Gly301=) c.8442G= (n.8442G=) c.999G= c.8338G= (p.Gly2780=) | |
13 | g.32370504G>T | CA387752551 | BRCA2 | c.8434G>T (p.Gly2812Ter) c.8065G>T (p.Gly2689Ter) c.901G>T (p.Gly301Ter) c.8442G>T (n.8442G>T) c.999G>T c.8338G>T (p.Gly2780Ter) | dbSNP |
13 | g.32370507_32370509del | CA025645 | BRCA2 | c.8437_8439del (p.Gly2813del) c.8068_8070del (p.Gly2690del) c.904_906del (p.Gly302del) c.8445_8447del (n.8445_8447del) c.1002_1004del c.8341_8343del (p.Gly2781del) | ClinVar dbSNP |
13 | g.32370504_32370505insC | CA10589496 | BRCA2 | c.8434_8435insC (p.Gly2812AlafsTer8) c.8065_8066insC (p.Gly2689AlafsTer8) c.901_902insC (p.Gly301AlafsTer8) c.8442_8443insC (n.8442_8443insC) c.999_1000insC c.8338_8339insC (p.Gly2780AlafsTer8) | ClinVar dbSNP |
13 | g.32370504_32370505insTT | CA2695217931 | BRCA2 | c.8434_8435insTT (p.Gly2812ValfsTer10) c.8065_8066insTT (p.Gly2689ValfsTer10) c.901_902insTT (p.Gly301ValfsTer10) c.8442_8443insTT (n.8442_8443insTT) c.999_1000insTT c.8338_8339insTT (p.Gly2780ValfsTer10) | ClinVar |
13 | g.32370505G>A | CA025643 | BRCA2 | c.8435G>A (p.Gly2812Glu) c.8066G>A (p.Gly2689Glu) c.902G>A (p.Gly301Glu) c.8443G>A (n.8443G>A) c.1000G>A c.8339G>A (p.Gly2780Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370505G>C | CA387752554 | BRCA2 | c.8435G>C (p.Gly2812Ala) c.8066G>C (p.Gly2689Ala) c.902G>C (p.Gly301Ala) c.8443G>C (n.8443G>C) c.1000G>C c.8339G>C (p.Gly2780Ala) | dbSNP |
13 | g.32370505G= | CA2082814046 | BRCA2 | c.8435G= (p.Gly2812=) c.8066G= (p.Gly2689=) c.902G= (p.Gly301=) c.8443G= (n.8443G=) c.1000G= c.8339G= (p.Gly2780=) | |
13 | g.32370505G>T | CA387752555 | BRCA2 | c.8435G>T (p.Gly2812Val) c.8066G>T (p.Gly2689Val) c.902G>T (p.Gly301Val) c.8443G>T (n.8443G>T) c.1000G>T c.8339G>T (p.Gly2780Val) | dbSNP |
13 | g.32370506A>C | CA483261246 | BRCA2 | c.8436A>C (p.Gly2812=) c.8067A>C (p.Gly2689=) c.903A>C (p.Gly301=) c.8444A>C (n.8444A>C) c.1001A>C c.8340A>C (p.Gly2780=) | |
13 | g.32370506A>G | CA483261247 | BRCA2 | c.8436A>G (p.Gly2812=) c.8067A>G (p.Gly2689=) c.903A>G (p.Gly301=) c.8444A>G (n.8444A>G) c.1001A>G c.8340A>G (p.Gly2780=) | dbSNP |
13 | g.32370506A>T | CA483261248 | BRCA2 | c.8436A>T (p.Gly2812=) c.8067A>T (p.Gly2689=) c.903A>T (p.Gly301=) c.8444A>T (n.8444A>T) c.1001A>T c.8340A>T (p.Gly2780=) | dbSNP |
13 | g.32370506dup | CA025644 | BRCA2 | c.8436dup (p.Gly2813ArgfsTer7) c.8067dup (p.Gly2690ArgfsTer7) c.903dup (p.Gly302ArgfsTer7) c.8444dup (n.8444dup) c.1001dup c.8340dup (p.Gly2781ArgfsTer7) | ClinVar dbSNP |
13 | g.32370506_32370507delinsAG | CA2082814057 | BRCA2 | c.8436_8437delinsAG (p.Gly2812=) c.8067_8068delinsAG (p.Gly2689=) c.903_904delinsAG (p.Gly301=) c.8444_8445delinsAG (n.8444_8445delinsAG) c.1001_1002delinsAG c.8340_8341delinsAG (p.Gly2780=) | |
13 | g.32370507G>A | CA387752556 | BRCA2 | c.8437G>A (p.Gly2813Arg) c.8068G>A (p.Gly2690Arg) c.904G>A (p.Gly302Arg) c.8445G>A (n.8445G>A) c.1002G>A c.8341G>A (p.Gly2781Arg) | dbSNP gnomAD v4 |
13 | g.32370507G>C | CA387752557 | BRCA2 | c.8437G>C (p.Gly2813Arg) c.8068G>C (p.Gly2690Arg) c.904G>C (p.Gly302Arg) c.8445G>C (n.8445G>C) c.1002G>C c.8341G>C (p.Gly2781Arg) | |
13 | g.32370507G>T | CA387752558 | BRCA2 | c.8437G>T (p.Gly2813Ter) c.8068G>T (p.Gly2690Ter) c.904G>T (p.Gly302Ter) c.8445G>T (n.8445G>T) c.1002G>T c.8341G>T (p.Gly2781Ter) | ClinVar dbSNP |
13 | g.32370508del | CA10589497 | BRCA2 | c.8438del (p.Gly2813GlufsTer8) c.8069del (p.Gly2690GlufsTer8) c.905del (p.Gly302GlufsTer8) c.8446del (n.8446del) c.1003del c.8342del (p.Gly2781GlufsTer8) | ClinVar dbSNP |
13 | g.32370507_32370508insTTTC | CA2695199694 | BRCA2 | c.8437_8438insTTTC (p.Gly2813ValfsTer8) c.8068_8069insTTTC (p.Gly2690ValfsTer8) c.904_905insTTTC (p.Gly302ValfsTer8) c.8445_8446insTTTC (n.8445_8446insTTTC) c.1002_1003insTTTC c.8341_8342insTTTC (p.Gly2781ValfsTer8) | ClinVar |
13 | g.32370508G>A | CA025646 | BRCA2 | c.8438G>A (p.Gly2813Glu) c.8069G>A (p.Gly2690Glu) c.905G>A (p.Gly302Glu) c.8446G>A (n.8446G>A) c.1003G>A c.8342G>A (p.Gly2781Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32370508G>C | CA387752559 | BRCA2 | c.8438G>C (p.Gly2813Ala) c.8069G>C (p.Gly2690Ala) c.905G>C (p.Gly302Ala) c.8446G>C (n.8446G>C) c.1003G>C c.8342G>C (p.Gly2781Ala) | dbSNP |
13 | g.32370508G= | CA2082814065 | BRCA2 | c.8438G= (p.Gly2813=) c.8069G= (p.Gly2690=) c.905G= (p.Gly302=) c.8446G= (n.8446G=) c.1003G= c.8342G= (p.Gly2781=) | |
13 | g.32370508G>T | CA387752560 | BRCA2 | c.8438G>T (p.Gly2813Val) c.8069G>T (p.Gly2690Val) c.905G>T (p.Gly302Val) c.8446G>T (n.8446G>T) c.1003G>T c.8342G>T (p.Gly2781Val) | |
13 | g.32370509A>C | CA483261250 | BRCA2 | c.8439A>C (p.Gly2813=) c.8070A>C (p.Gly2690=) c.906A>C (p.Gly302=) c.8447A>C (n.8447A>C) c.1004A>C c.8343A>C (p.Gly2781=) | ClinVar |
13 | g.32370509A>G | CA483261253 | BRCA2 | c.8439A>G (p.Gly2813=) c.8070A>G (p.Gly2690=) c.906A>G (p.Gly302=) c.8447A>G (n.8447A>G) c.1004A>G c.8343A>G (p.Gly2781=) | |
13 | g.32370509A>T | CA483261252 | BRCA2 | c.8439A>T (p.Gly2813=) c.8070A>T (p.Gly2690=) c.906A>T (p.Gly302=) c.8447A>T (n.8447A>T) c.1004A>T c.8343A>T (p.Gly2781=) | dbSNP |
13 | g.32370511del | CA1139768372 | BRCA2 | c.8441del (p.Asn2814MetfsTer7) c.8072del (p.Asn2691MetfsTer7) c.908del (p.Asn303MetfsTer7) c.8449del (n.8449del) c.1006del c.8345del (p.Asn2782MetfsTer7) | |
13 | g.32370510A= | CA2082814069 | BRCA2 | c.8440A= (p.Asn2814=) c.8071A= (p.Asn2691=) c.907A= (p.Asn303=) c.8448A= (n.8448A=) c.1005A= c.8344A= (p.Asn2782=) | |
13 | g.32370510A>C | CA387752562 | BRCA2 | c.8440A>C (p.Asn2814His) c.8071A>C (p.Asn2691His) c.907A>C (p.Asn303His) c.8448A>C (n.8448A>C) c.1005A>C c.8344A>C (p.Asn2782His) | ClinVar dbSNP |
13 | g.32370510A>G | CA10579786 | BRCA2 | c.8440A>G (p.Asn2814Asp) c.8071A>G (p.Asn2691Asp) c.907A>G (p.Asn303Asp) c.8448A>G (n.8448A>G) c.1005A>G c.8344A>G (p.Asn2782Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370510A>T | CA387752561 | BRCA2 | c.8440A>T (p.Asn2814Tyr) c.8071A>T (p.Asn2691Tyr) c.907A>T (p.Asn303Tyr) c.8448A>T (n.8448A>T) c.1005A>T c.8344A>T (p.Asn2782Tyr) | dbSNP |
13 | g.32370511A= | CA2082814077 | BRCA2 | c.8441A= (p.Asn2814=) c.8072A= (p.Asn2691=) c.908A= (p.Asn303=) c.8449A= (n.8449A=) c.1006A= c.8345A= (p.Asn2782=) | |
13 | g.32370511A>C | CA387752563 | BRCA2 | c.8441A>C (p.Asn2814Thr) c.8072A>C (p.Asn2691Thr) c.908A>C (p.Asn303Thr) c.8449A>C (n.8449A>C) c.1006A>C c.8345A>C (p.Asn2782Thr) | |
13 | g.32370511A>G | CA387752564 | BRCA2 | c.8441A>G (p.Asn2814Ser) c.8072A>G (p.Asn2691Ser) c.908A>G (p.Asn303Ser) c.8449A>G (n.8449A>G) c.1006A>G c.8345A>G (p.Asn2782Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32370511A>T | CA387752565 | BRCA2 | c.8441A>T (p.Asn2814Ile) c.8072A>T (p.Asn2691Ile) c.908A>T (p.Asn303Ile) c.8449A>T (n.8449A>T) c.1006A>T c.8345A>T (p.Asn2782Ile) | dbSNP |
13 | g.32370511_32370514delinsATGT | CA2082814074 | BRCA2 | c.8441_8444delinsATGT (p.Asn2814=) c.8072_8075delinsATGT (p.Asn2691=) c.908_911delinsATGT (p.Asn303=) c.8449_8452delinsATGT (n.8449_8452delinsATGT) c.1006_1009delinsATGT c.8345_8348delinsATGT (p.Asn2782=) | |
13 | g.32370512T>A | CA387752566 | BRCA2 | c.8442T>A (p.Asn2814Lys) c.8073T>A (p.Asn2691Lys) c.909T>A (p.Asn303Lys) c.8450T>A (n.8450T>A) c.1007T>A c.8346T>A (p.Asn2782Lys) | dbSNP |
13 | g.32370512T>C | CA483261255 | BRCA2 | c.8442T>C (p.Asn2814=) c.8073T>C (p.Asn2691=) c.909T>C (p.Asn303=) c.8450T>C (n.8450T>C) c.1007T>C c.8346T>C (p.Asn2782=) | ClinVar dbSNP gnomAD v4 |
13 | g.32370512T>G | CA387752567 | BRCA2 | c.8442T>G (p.Asn2814Lys) c.8073T>G (p.Asn2691Lys) c.909T>G (p.Asn303Lys) c.8450T>G (n.8450T>G) c.1007T>G c.8346T>G (p.Asn2782Lys) | dbSNP |
13 | g.32370512T= | CA2082814087 | BRCA2 | c.8442T= (p.Asn2814=) c.8073T= (p.Asn2691=) c.909T= (p.Asn303=) c.8450T= (n.8450T=) c.1007T= c.8346T= (p.Asn2782=) | |
13 | g.32370514_32370516del | CA658656376 | BRCA2 | c.8444_8446del (p.Val2815del) c.8075_8077del (p.Val2692del) c.911_913del (p.Val304del) c.8452_8454del (n.8452_8454del) c.1009_1011del c.8348_8350del (p.Val2783del) | ClinVar dbSNP gnomAD v4 |
13 | g.32370513G>A | CA025647 | BRCA2 | c.8443G>A (p.Val2815Ile) c.8074G>A (p.Val2692Ile) c.910G>A (p.Val304Ile) c.8451G>A (n.8451G>A) c.1008G>A c.8347G>A (p.Val2783Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32370513G>C | CA387752569 | BRCA2 | c.8443G>C (p.Val2815Leu) c.8074G>C (p.Val2692Leu) c.910G>C (p.Val304Leu) c.8451G>C (n.8451G>C) c.1008G>C c.8347G>C (p.Val2783Leu) | dbSNP |
13 | g.32370513G= | CA2082814101 | BRCA2 | c.8443G= (p.Val2815=) c.8074G= (p.Val2692=) c.910G= (p.Val304=) c.8451G= (n.8451G=) c.1008G= c.8347G= (p.Val2783=) | |
13 | g.32370513G>T | CA387752568 | BRCA2 | c.8443G>T (p.Val2815Phe) c.8074G>T (p.Val2692Phe) c.910G>T (p.Val304Phe) c.8451G>T (n.8451G>T) c.1008G>T c.8347G>T (p.Val2783Phe) | |
13 | g.32370514T>A | CA387752570 | BRCA2 | c.8444T>A (p.Val2815Asp) c.8075T>A (p.Val2692Asp) c.911T>A (p.Val304Asp) c.8452T>A (n.8452T>A) c.1009T>A c.8348T>A (p.Val2783Asp) | dbSNP |
13 | g.32370514T>C | CA387752571 | BRCA2 | c.8444T>C (p.Val2815Ala) c.8075T>C (p.Val2692Ala) c.911T>C (p.Val304Ala) c.8452T>C (n.8452T>C) c.1009T>C c.8348T>C (p.Val2783Ala) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370514T>G | CA387752572 | BRCA2 | c.8444T>G (p.Val2815Gly) c.8075T>G (p.Val2692Gly) c.911T>G (p.Val304Gly) c.8452T>G (n.8452T>G) c.1009T>G c.8348T>G (p.Val2783Gly) | |
13 | g.32370514T= | CA2082814108 | BRCA2 | c.8444T= (p.Val2815=) c.8075T= (p.Val2692=) c.911T= (p.Val304=) c.8452T= (n.8452T=) c.1009T= c.8348T= (p.Val2783=) | |
13 | g.32370515T>A | CA483261258 | BRCA2 | c.8445T>A (p.Val2815=) c.8076T>A (p.Val2692=) c.912T>A (p.Val304=) c.8453T>A (n.8453T>A) c.1010T>A c.8349T>A (p.Val2783=) | |
13 | g.32370515T>C | CA483261259 | BRCA2 | c.8445T>C (p.Val2815=) c.8076T>C (p.Val2692=) c.912T>C (p.Val304=) c.8453T>C (n.8453T>C) c.1010T>C c.8349T>C (p.Val2783=) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32370515T>G | CA483261260 | BRCA2 | c.8445T>G (p.Val2815=) c.8076T>G (p.Val2692=) c.912T>G (p.Val304=) c.8453T>G (n.8453T>G) c.1010T>G c.8349T>G (p.Val2783=) | |
13 | g.32370515T= | CA2082814110 | BRCA2 | c.8445T= (p.Val2815=) c.8076T= (p.Val2692=) c.912T= (p.Val304=) c.8453T= (n.8453T=) c.1010T= c.8349T= (p.Val2783=) | |
13 | g.32370516G>A | CA387752573 | BRCA2 | c.8446G>A (p.Gly2816Ser) c.8077G>A (p.Gly2693Ser) c.913G>A (p.Gly305Ser) c.8454G>A (n.8454G>A) c.1011G>A c.8350G>A (p.Gly2784Ser) | ClinVar dbSNP |
13 | g.32370516G>C | CA387752574 | BRCA2 | c.8446G>C (p.Gly2816Arg) c.8077G>C (p.Gly2693Arg) c.913G>C (p.Gly305Arg) c.8454G>C (n.8454G>C) c.1011G>C c.8350G>C (p.Gly2784Arg) | ClinVar dbSNP |
13 | g.32370516G= | CA2082814117 | BRCA2 | c.8446G= (p.Gly2816=) c.8077G= (p.Gly2693=) c.913G= (p.Gly305=) c.8454G= (n.8454G=) c.1011G= c.8350G= (p.Gly2784=) | |
13 | g.32370516G>T | CA387752575 | BRCA2 | c.8446G>T (p.Gly2816Cys) c.8077G>T (p.Gly2693Cys) c.913G>T (p.Gly305Cys) c.8454G>T (n.8454G>T) c.1011G>T c.8350G>T (p.Gly2784Cys) | ClinVar dbSNP |
13 | g.32370517G>A | CA025648 | BRCA2 | c.8447G>A (p.Gly2816Asp) c.8078G>A (p.Gly2693Asp) c.914G>A (p.Gly305Asp) c.8455G>A (n.8455G>A) c.1012G>A c.8351G>A (p.Gly2784Asp) | ClinVar dbSNP |
13 | g.32370517G>C | CA358343 | BRCA2 | c.8447G>C (p.Gly2816Ala) c.8078G>C (p.Gly2693Ala) c.914G>C (p.Gly305Ala) c.8455G>C (n.8455G>C) c.1012G>C c.8351G>C (p.Gly2784Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32370517G= | CA2082814125 | BRCA2 | c.8447G= (p.Gly2816=) c.8078G= (p.Gly2693=) c.914G= (p.Gly305=) c.8455G= (n.8455G=) c.1012G= c.8351G= (p.Gly2784=) | |
13 | g.32370517G>T | CA387752576 | BRCA2 | c.8447G>T (p.Gly2816Val) c.8078G>T (p.Gly2693Val) c.914G>T (p.Gly305Val) c.8455G>T (n.8455G>T) c.1012G>T c.8351G>T (p.Gly2784Val) | ClinVar dbSNP |
13 | g.32370518T>A | CA483261263 | BRCA2 | c.8448T>A (p.Gly2816=) c.8079T>A (p.Gly2693=) c.915T>A (p.Gly305=) c.8456T>A (n.8456T>A) c.1013T>A c.8352T>A (p.Gly2784=) | |
13 | g.32370518T>C | CA483261265 | BRCA2 | c.8448T>C (p.Gly2816=) c.8079T>C (p.Gly2693=) c.915T>C (p.Gly305=) c.8456T>C (n.8456T>C) c.1013T>C c.8352T>C (p.Gly2784=) | |
13 | g.32370518T>G | CA483261266 | BRCA2 | c.8448T>G (p.Gly2816=) c.8079T>G (p.Gly2693=) c.915T>G (p.Gly305=) c.8456T>G (n.8456T>G) c.1013T>G c.8352T>G (p.Gly2784=) | |
13 | g.32370519T>A | CA387752577 | BRCA2 | c.8449T>A (p.Cys2817Ser) c.8080T>A (p.Cys2694Ser) c.916T>A (p.Cys306Ser) c.8457T>A (n.8457T>A) c.1014T>A c.8353T>A (p.Cys2785Ser) | |
13 | g.32370519T>C | CA387752578 | BRCA2 | c.8449T>C (p.Cys2817Arg) c.8080T>C (p.Cys2694Arg) c.916T>C (p.Cys306Arg) c.8457T>C (n.8457T>C) c.1014T>C c.8353T>C (p.Cys2785Arg) | |
13 | g.32370519T>G | CA387752579 | BRCA2 | c.8449T>G (p.Cys2817Gly) c.8080T>G (p.Cys2694Gly) c.916T>G (p.Cys306Gly) c.8457T>G (n.8457T>G) c.1014T>G c.8353T>G (p.Cys2785Gly) | |
13 | g.32370520G>A | CA387752580 | BRCA2 | c.8450G>A (p.Cys2817Tyr) c.8081G>A (p.Cys2694Tyr) c.917G>A (p.Cys306Tyr) c.8458G>A (n.8458G>A) c.1015G>A c.8354G>A (p.Cys2785Tyr) | dbSNP gnomAD v4 |
13 | g.32370520G>C | CA387752581 | BRCA2 | c.8450G>C (p.Cys2817Ser) c.8081G>C (p.Cys2694Ser) c.917G>C (p.Cys306Ser) c.8458G>C (n.8458G>C) c.1015G>C c.8354G>C (p.Cys2785Ser) | ClinVar dbSNP |
13 | g.32370520G= | CA2082814130 | BRCA2 | c.8450G= (p.Cys2817=) c.8081G= (p.Cys2694=) c.917G= (p.Cys306=) c.8458G= (n.8458G=) c.1015G= c.8354G= (p.Cys2785=) | |
13 | g.32370520G>T | CA025649 | BRCA2 | c.8450G>T (p.Cys2817Phe) c.8081G>T (p.Cys2694Phe) c.917G>T (p.Cys306Phe) c.8458G>T (n.8458G>T) c.1015G>T c.8354G>T (p.Cys2785Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370521T>A | CA025650 | BRCA2 | c.8451T>A (p.Cys2817Ter) c.8082T>A (p.Cys2694Ter) c.918T>A (p.Cys306Ter) c.8459T>A (n.8459T>A) c.1016T>A c.8355T>A (p.Cys2785Ter) | ClinVar dbSNP |
13 | g.32370521T>C | CA483261267 | BRCA2 | c.8451T>C (p.Cys2817=) c.8082T>C (p.Cys2694=) c.918T>C (p.Cys306=) c.8459T>C (n.8459T>C) c.1016T>C c.8355T>C (p.Cys2785=) | ClinVar dbSNP gnomAD v4 |
13 | g.32370521T>G | CA387752582 | BRCA2 | c.8451T>G (p.Cys2817Trp) c.8082T>G (p.Cys2694Trp) c.918T>G (p.Cys306Trp) c.8459T>G (n.8459T>G) c.1016T>G c.8355T>G (p.Cys2785Trp) | dbSNP |
13 | g.32370521T= | CA2082814142 | BRCA2 | c.8451T= (p.Cys2817=) c.8082T= (p.Cys2694=) c.918T= (p.Cys306=) c.8459T= (n.8459T=) c.1016T= c.8355T= (p.Cys2785=) | |
13 | g.32370522G>A | CA025651 | BRCA2 | c.8452G>A (p.Val2818Ile) c.8083G>A (p.Val2695Ile) c.919G>A (p.Val307Ile) c.8460G>A (n.8460G>A) c.1017G>A c.8356G>A (p.Val2786Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370522G>C | CA387752583 | BRCA2 | c.8452G>C (p.Val2818Leu) c.8083G>C (p.Val2695Leu) c.919G>C (p.Val307Leu) c.8460G>C (n.8460G>C) c.1017G>C c.8356G>C (p.Val2786Leu) | dbSNP |
13 | g.32370522G= | CA2082814151 | BRCA2 | c.8452G= (p.Val2818=) c.8083G= (p.Val2695=) c.919G= (p.Val307=) c.8460G= (n.8460G=) c.1017G= c.8356G= (p.Val2786=) | |
13 | g.32370522G>T | CA387752584 | BRCA2 | c.8452G>T (p.Val2818Phe) c.8083G>T (p.Val2695Phe) c.919G>T (p.Val307Phe) c.8460G>T (n.8460G>T) c.1017G>T c.8356G>T (p.Val2786Phe) | ClinVar dbSNP gnomAD v4 |
13 | g.32370523T>A | CA387752587 | BRCA2 | c.8453T>A (p.Val2818Asp) c.8084T>A (p.Val2695Asp) c.920T>A (p.Val307Asp) c.8461T>A (n.8461T>A) c.1018T>A c.8357T>A (p.Val2786Asp) | dbSNP |
13 | g.32370523T>C | CA387752586 | BRCA2 | c.8453T>C (p.Val2818Ala) c.8084T>C (p.Val2695Ala) c.920T>C (p.Val307Ala) c.8461T>C (n.8461T>C) c.1018T>C c.8357T>C (p.Val2786Ala) | ClinVar dbSNP |
13 | g.32370523T>G | CA387752585 | BRCA2 | c.8453T>G (p.Val2818Gly) c.8084T>G (p.Val2695Gly) c.920T>G (p.Val307Gly) c.8461T>G (n.8461T>G) c.1018T>G c.8357T>G (p.Val2786Gly) | |
13 | g.32370524dup | CA2798730061 | BRCA2 | c.8454dup (p.Asp2819Ter) c.8085dup (p.Asp2696Ter) c.921dup (p.Asp308Ter) c.8462dup (n.8462dup) c.1019dup c.8358dup (p.Asp2787Ter) | |
13 | g.32370524T>A | CA483261271 | BRCA2 | c.8454T>A (p.Val2818=) c.8085T>A (p.Val2695=) c.921T>A (p.Val307=) c.8462T>A (n.8462T>A) c.1019T>A c.8358T>A (p.Val2786=) | dbSNP |
13 | g.32370524T>C | CA483261272 | BRCA2 | c.8454T>C (p.Val2818=) c.8085T>C (p.Val2695=) c.921T>C (p.Val307=) c.8462T>C (n.8462T>C) c.1019T>C c.8358T>C (p.Val2786=) | |
13 | g.32370524T>G | CA483261270 | BRCA2 | c.8454T>G (p.Val2818=) c.8085T>G (p.Val2695=) c.921T>G (p.Val307=) c.8462T>G (n.8462T>G) c.1019T>G c.8358T>G (p.Val2786=) | |
13 | g.32370524T= | CA2082814155 | BRCA2 | c.8454T= (p.Val2818=) c.8085T= (p.Val2695=) c.921T= (p.Val307=) c.8462T= (n.8462T=) c.1019T= c.8358T= (p.Val2786=) | |
13 | g.32370525G>A | CA387752588 | BRCA2 | c.8455G>A (p.Asp2819Asn) c.8086G>A (p.Asp2696Asn) c.922G>A (p.Asp308Asn) c.8463G>A (n.8463G>A) c.1020G>A c.8359G>A (p.Asp2787Asn) | ClinVar dbSNP |
13 | g.32370525G>C | CA387752590 | BRCA2 | c.8455G>C (p.Asp2819His) c.8086G>C (p.Asp2696His) c.922G>C (p.Asp308His) c.8463G>C (n.8463G>C) c.1020G>C c.8359G>C (p.Asp2787His) | ClinVar dbSNP |
13 | g.32370525G= | CA2082814161 | BRCA2 | c.8455G= (p.Asp2819=) c.8086G= (p.Asp2696=) c.922G= (p.Asp308=) c.8463G= (n.8463G=) c.1020G= c.8359G= (p.Asp2787=) | |
13 | g.32370525G>T | CA387752589 | BRCA2 | c.8455G>T (p.Asp2819Tyr) c.8086G>T (p.Asp2696Tyr) c.922G>T (p.Asp308Tyr) c.8463G>T (n.8463G>T) c.1020G>T c.8359G>T (p.Asp2787Tyr) | dbSNP |
13 | g.32370525_32370526insGGT | CA2798730062 | BRCA2 | c.8455_8456insGGT (p.Asp2819delinsGlyTyr) c.8086_8087insGGT (p.Asp2696delinsGlyTyr) c.922_923insGGT (p.Asp308delinsGlyTyr) c.8463_8464insGGT (n.8463_8464insGGT) c.1020_1021insGGT c.8359_8360insGGT (p.Asp2787delinsGlyTyr) | |
13 | g.32370526A= | CA2082814169 | BRCA2 | c.8456A= (p.Asp2819=) c.8087A= (p.Asp2696=) c.923A= (p.Asp308=) c.8464A= (n.8464A=) c.1021A= c.8360A= (p.Asp2787=) | |
13 | g.32370526A>C | CA387752591 | BRCA2 | c.8456A>C (p.Asp2819Ala) c.8087A>C (p.Asp2696Ala) c.923A>C (p.Asp308Ala) c.8464A>C (n.8464A>C) c.1021A>C c.8360A>C (p.Asp2787Ala) | |
13 | g.32370526A>G | CA387752593 | BRCA2 | c.8456A>G (p.Asp2819Gly) c.8087A>G (p.Asp2696Gly) c.923A>G (p.Asp308Gly) c.8464A>G (n.8464A>G) c.1021A>G c.8360A>G (p.Asp2787Gly) | ClinVar dbSNP |
13 | g.32370526A>T | CA387752592 | BRCA2 | c.8456A>T (p.Asp2819Val) c.8087A>T (p.Asp2696Val) c.923A>T (p.Asp308Val) c.8464A>T (n.8464A>T) c.1021A>T c.8360A>T (p.Asp2787Val) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32370527T>A | CA387752594 | BRCA2 | c.8457T>A (p.Asp2819Glu) c.8088T>A (p.Asp2696Glu) c.924T>A (p.Asp308Glu) c.8465T>A (n.8465T>A) c.1022T>A c.8361T>A (p.Asp2787Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32370527T>C | CA10579787 | BRCA2 | c.8457T>C (p.Asp2819=) c.8088T>C (p.Asp2696=) c.924T>C (p.Asp308=) c.8465T>C (n.8465T>C) c.1022T>C c.8361T>C (p.Asp2787=) | ClinVar dbSNP gnomAD v4 |
13 | g.32370527T>G | CA387752595 | BRCA2 | c.8457T>G (p.Asp2819Glu) c.8088T>G (p.Asp2696Glu) c.924T>G (p.Asp308Glu) c.8465T>G (n.8465T>G) c.1022T>G c.8361T>G (p.Asp2787Glu) | ClinVar dbSNP |
13 | g.32370527T= | CA2082814176 | BRCA2 | c.8457T= (p.Asp2819=) c.8088T= (p.Asp2696=) c.924T= (p.Asp308=) c.8465T= (n.8465T=) c.1022T= c.8361T= (p.Asp2787=) | |
13 | g.32370528del | CA2499222332 | BRCA2 | c.8458del (p.Val2820Ter) c.8089del (p.Val2697Ter) c.925del (p.Val309Ter) c.8466del (n.8466del) c.1023del c.8362del (p.Val2788Ter) | |
13 | g.32370528G>A | CA387752596 | BRCA2 | c.8458G>A (p.Val2820Ile) c.8089G>A (p.Val2697Ile) c.925G>A (p.Val309Ile) c.8466G>A (n.8466G>A) c.1023G>A c.8362G>A (p.Val2788Ile) | dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32370528G>C | CA387752597 | BRCA2 | c.8458G>C (p.Val2820Leu) c.8089G>C (p.Val2697Leu) c.925G>C (p.Val309Leu) c.8466G>C (n.8466G>C) c.1023G>C c.8362G>C (p.Val2788Leu) | dbSNP |
13 | g.32370528G= | CA2082814183 | BRCA2 | c.8458G= (p.Val2820=) c.8089G= (p.Val2697=) c.925G= (p.Val309=) c.8466G= (n.8466G=) c.1023G= c.8362G= (p.Val2788=) | |
13 | g.32370528G>T | CA025652 | BRCA2 | c.8458G>T (p.Val2820Leu) c.8089G>T (p.Val2697Leu) c.925G>T (p.Val309Leu) c.8466G>T (n.8466G>T) c.1023G>T c.8362G>T (p.Val2788Leu) | ClinVar dbSNP |
13 | g.32370529T>A | CA387752599 | BRCA2 | c.8459T>A (p.Val2820Glu) c.8090T>A (p.Val2697Glu) c.926T>A (p.Val309Glu) c.8467T>A (n.8467T>A) c.1024T>A c.8363T>A (p.Val2788Glu) | ClinVar dbSNP |
13 | g.32370529T>C | CA6941229 | BRCA2 | c.8459T>C (p.Val2820Ala) c.8090T>C (p.Val2697Ala) c.926T>C (p.Val309Ala) c.8467T>C (n.8467T>C) c.1024T>C c.8363T>C (p.Val2788Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370529T>G | CA387752598 | BRCA2 | c.8459T>G (p.Val2820Gly) c.8090T>G (p.Val2697Gly) c.926T>G (p.Val309Gly) c.8467T>G (n.8467T>G) c.1024T>G c.8363T>G (p.Val2788Gly) | |
13 | g.32370529T= | CA2082814191 | BRCA2 | c.8459T= (p.Val2820=) c.8090T= (p.Val2697=) c.926T= (p.Val309=) c.8467T= (n.8467T=) c.1024T= c.8363T= (p.Val2788=) | |
13 | g.32370530A= | CA2082814217 | BRCA2 | c.8460A= (p.Val2820=) c.8091A= (p.Val2697=) c.927A= (p.Val309=) c.8468A= (n.8468A=) c.1025A= c.8364A= (p.Val2788=) | |
13 | g.32370530A>C | CA025653 | BRCA2 | c.8460A>C (p.Val2820=) c.8091A>C (p.Val2697=) c.927A>C (p.Val309=) c.8468A>C (n.8468A>C) c.1025A>C c.8364A>C (p.Val2788=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370530A>G | CA483261277 | BRCA2 | c.8460A>G (p.Val2820=) c.8091A>G (p.Val2697=) c.927A>G (p.Val309=) c.8468A>G (n.8468A>G) c.1025A>G c.8364A>G (p.Val2788=) | ClinVar dbSNP |
13 | g.32370530A>T | CA483261276 | BRCA2 | c.8460A>T (p.Val2820=) c.8091A>T (p.Val2697=) c.927A>T (p.Val309=) c.8468A>T (n.8468A>T) c.1025A>T c.8364A>T (p.Val2788=) | dbSNP |
13 | g.32370530_32370533delinsAATT | CA2082814222 | BRCA2 | c.8460_8463delinsAATT (p.Val2820=) c.8091_8094delinsAATT (p.Val2697=) c.927_930delinsAATT (p.Val309=) c.8468_8471delinsAATT (n.8468_8471delinsAATT) c.1025_1028delinsAATT c.8364_8367delinsAATT (p.Val2788=) | |
13 | g.32370531A>C | CA387752600 | BRCA2 | c.8461A>C (p.Ile2821Leu) c.8092A>C (p.Ile2698Leu) c.928A>C (p.Ile310Leu) c.8469A>C (n.8469A>C) c.1026A>C c.8365A>C (p.Ile2789Leu) | |
13 | g.32370531A>G | CA387752601 | BRCA2 | c.8461A>G (p.Ile2821Val) c.8092A>G (p.Ile2698Val) c.928A>G (p.Ile310Val) c.8469A>G (n.8469A>G) c.1026A>G c.8365A>G (p.Ile2789Val) | dbSNP gnomAD v4 |
13 | g.32370531A>T | CA387752602 | BRCA2 | c.8461A>T (p.Ile2821Phe) c.8092A>T (p.Ile2698Phe) c.928A>T (p.Ile310Phe) c.8469A>T (n.8469A>T) c.1026A>T c.8365A>T (p.Ile2789Phe) | dbSNP |
13 | g.32370531_32370532delinsAT | CA2082814236 | BRCA2 | c.8461_8462delinsAT (p.Ile2821=) c.8092_8093delinsAT (p.Ile2698=) c.928_929delinsAT (p.Ile310=) c.8469_8470delinsAT (n.8469_8470delinsAT) c.1026_1027delinsAT c.8365_8366delinsAT (p.Ile2789=) | |
13 | g.32370534_32370536del | CA025657 | BRCA2 | c.8464_8466del (p.Ile2822del) c.8095_8097del (p.Ile2699del) c.931_933del (p.Ile311del) c.8472_8474del (n.8472_8474del) c.1029_1031del c.8368_8370del (p.Ile2790del) | ClinVar dbSNP |
13 | g.32370531_32370532insGTTTGGTGTGGG | CA2798730063 | BRCA2 | c.8461_8462insGTTTGGTGTGGG (p.Ile2821delinsSerLeuValTrpVal) c.8092_8093insGTTTGGTGTGGG (p.Ile2698delinsSerLeuValTrpVal) c.928_929insGTTTGGTGTGGG (p.Ile310delinsSerLeuValTrpVal) c.8469_8470insGTTTGGTGTGGG (n.8469_8470insGTTTGGTGTGGG) c.1026_1027insGTTTGGTGTGGG c.8365_8366insGTTTGGTGTGGG (p.Ile2789delinsSerLeuValTrpVal) | |
13 | g.32370532T>A | CA387752604 | BRCA2 | c.8462T>A (p.Ile2821Asn) c.8093T>A (p.Ile2698Asn) c.929T>A (p.Ile310Asn) c.8470T>A (n.8470T>A) c.1027T>A c.8366T>A (p.Ile2789Asn) | dbSNP |
13 | g.32370532T>C | CA025654 | BRCA2 | c.8462T>C (p.Ile2821Thr) c.8093T>C (p.Ile2698Thr) c.929T>C (p.Ile310Thr) c.8470T>C (n.8470T>C) c.1027T>C c.8366T>C (p.Ile2789Thr) | ClinVar dbSNP |
13 | g.32370532T>G | CA387752603 | BRCA2 | c.8462T>G (p.Ile2821Ser) c.8093T>G (p.Ile2698Ser) c.929T>G (p.Ile310Ser) c.8470T>G (n.8470T>G) c.1027T>G c.8366T>G (p.Ile2789Ser) | dbSNP |
13 | g.32370532T= | CA2082814251 | BRCA2 | c.8462T= (p.Ile2821=) c.8093T= (p.Ile2698=) c.929T= (p.Ile310=) c.8470T= (n.8470T=) c.1027T= c.8366T= (p.Ile2789=) | |
13 | g.32370532_32370533insGGT | CA2798730064 | BRCA2 | c.8462_8463insGGT (p.Ile2821delinsMetVal) c.8093_8094insGGT (p.Ile2698delinsMetVal) c.929_930insGGT (p.Ile310delinsMetVal) c.8470_8471insGGT (n.8470_8471insGGT) c.1027_1028insGGT c.8366_8367insGGT (p.Ile2789delinsMetVal) | |
13 | g.32370533dup | CA025655 | BRCA2 | c.8463dup (p.Ile2822TyrfsTer23) c.8094dup (p.Ile2699TyrfsTer23) c.930dup (p.Ile311TyrfsTer23) c.8471dup (n.8471dup) c.1028dup c.8367dup (p.Ile2790TyrfsTer23) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370533del | CA025656 | BRCA2 | c.8463del (p.Ile2822PhefsTer?) c.8094del (p.Ile2699PhefsTer?) c.930del (p.Ile311PhefsTer?) c.8471del (n.8471del) c.1028del c.8367del (p.Ile2790PhefsTer?) | ClinVar dbSNP |
13 | g.32370533T>A | CA483261279 | BRCA2 | c.8463T>A (p.Ile2821=) c.8094T>A (p.Ile2698=) c.930T>A (p.Ile310=) c.8471T>A (n.8471T>A) c.1028T>A c.8367T>A (p.Ile2789=) | |
13 | g.32370533T>C | CA483261280 | BRCA2 | c.8463T>C (p.Ile2821=) c.8094T>C (p.Ile2698=) c.930T>C (p.Ile310=) c.8471T>C (n.8471T>C) c.1028T>C c.8367T>C (p.Ile2789=) | |
13 | g.32370533T>G | CA387752605 | BRCA2 | c.8463T>G (p.Ile2821Met) c.8094T>G (p.Ile2698Met) c.930T>G (p.Ile310Met) c.8471T>G (n.8471T>G) c.1028T>G c.8367T>G (p.Ile2789Met) | gnomAD v4 |
13 | g.32370533_32370541delinsTATTCAAAG | CA2082814260 | BRCA2 | c.8463_8471delinsTATTCAAAG (p.Ile2821=) c.8094_8102delinsTATTCAAAG (p.Ile2698=) c.930_938delinsTATTCAAAG (p.Ile310=) c.8471_8479delinsTATTCAAAG (n.8471_8479delinsTATTCAAAG) c.1028_1036delinsTATTCAAAG c.8367_8375delinsTATTCAAAG (p.Ile2789=) | |
13 | g.32370534A= | CA2082814269 | BRCA2 | c.8464A= (p.Ile2822=) c.8095A= (p.Ile2699=) c.931A= (p.Ile311=) c.8472A= (n.8472A=) c.1029A= c.8368A= (p.Ile2790=) | |
13 | g.32370534A>C | CA387752606 | BRCA2 | c.8464A>C (p.Ile2822Leu) c.8095A>C (p.Ile2699Leu) c.931A>C (p.Ile311Leu) c.8472A>C (n.8472A>C) c.1029A>C c.8368A>C (p.Ile2790Leu) | |
13 | g.32370534A>G | CA387752607 | BRCA2 | c.8464A>G (p.Ile2822Val) c.8095A>G (p.Ile2699Val) c.931A>G (p.Ile311Val) c.8472A>G (n.8472A>G) c.1029A>G c.8368A>G (p.Ile2790Val) | |
13 | g.32370534A>T | CA025658 | BRCA2 | c.8464A>T (p.Ile2822Phe) c.8095A>T (p.Ile2699Phe) c.931A>T (p.Ile311Phe) c.8472A>T (n.8472A>T) c.1029A>T c.8368A>T (p.Ile2790Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32370535_32370542del | CA658823585 | BRCA2 | c.8465_8472del (p.Ile2822SerfsTer20) c.8096_8103del (p.Ile2699SerfsTer20) c.932_939del (p.Ile311SerfsTer20) c.8473_8480del (n.8473_8480del) c.1030_1037del c.8369_8376del (p.Ile2790SerfsTer20) | ClinVar dbSNP |
13 | g.32370535T>A | CA387752608 | BRCA2 | c.8465T>A (p.Ile2822Asn) c.8096T>A (p.Ile2699Asn) c.932T>A (p.Ile311Asn) c.8473T>A (n.8473T>A) c.1030T>A c.8369T>A (p.Ile2790Asn) | ClinVar |
13 | g.32370535T>C | CA387752609 | BRCA2 | c.8465T>C (p.Ile2822Thr) c.8096T>C (p.Ile2699Thr) c.932T>C (p.Ile311Thr) c.8473T>C (n.8473T>C) c.1030T>C c.8369T>C (p.Ile2790Thr) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32370535T>G | CA387752610 | BRCA2 | c.8465T>G (p.Ile2822Ser) c.8096T>G (p.Ile2699Ser) c.932T>G (p.Ile311Ser) c.8473T>G (n.8473T>G) c.1030T>G c.8369T>G (p.Ile2790Ser) | |
13 | g.32370535T= | CA2082814283 | BRCA2 | c.8465T= (p.Ile2822=) c.8096T= (p.Ile2699=) c.932T= (p.Ile311=) c.8473T= (n.8473T=) c.1030T= c.8369T= (p.Ile2790=) | |
13 | g.32370536dup | CA10589498 | BRCA2 | c.8466dup (p.Gln2823SerfsTer22) c.8097dup (p.Gln2700SerfsTer22) c.933dup (p.Gln312SerfsTer22) c.8474dup (n.8474dup) c.1031dup c.8370dup (p.Gln2791SerfsTer22) | ClinVar dbSNP |
13 | g.32370536T>A | CA483261281 | BRCA2 | c.8466T>A (p.Ile2822=) c.8097T>A (p.Ile2699=) c.933T>A (p.Ile311=) c.8474T>A (n.8474T>A) c.1031T>A c.8370T>A (p.Ile2790=) | dbSNP |
13 | g.32370536T>C | CA483261282 | BRCA2 | c.8466T>C (p.Ile2822=) c.8097T>C (p.Ile2699=) c.933T>C (p.Ile311=) c.8474T>C (n.8474T>C) c.1031T>C c.8370T>C (p.Ile2790=) | |
13 | g.32370536T>G | CA387752611 | BRCA2 | c.8466T>G (p.Ile2822Met) c.8097T>G (p.Ile2699Met) c.933T>G (p.Ile311Met) c.8474T>G (n.8474T>G) c.1031T>G c.8370T>G (p.Ile2790Met) | |
13 | g.32370537C>A | CA387752614 | BRCA2 | c.8467C>A (p.Gln2823Lys) c.8098C>A (p.Gln2700Lys) c.934C>A (p.Gln312Lys) c.8475C>A (n.8475C>A) c.1032C>A c.8371C>A (p.Gln2791Lys) | |
13 | g.32370537C>G | CA387752612 | BRCA2 | c.8467C>G (p.Gln2823Glu) c.8098C>G (p.Gln2700Glu) c.934C>G (p.Gln312Glu) c.8475C>G (n.8475C>G) c.1032C>G c.8371C>G (p.Gln2791Glu) | dbSNP gnomAD v4 |
13 | g.32370537C>T | CA387752613 | BRCA2 | c.8467C>T (p.Gln2823Ter) c.8098C>T (p.Gln2700Ter) c.934C>T (p.Gln312Ter) c.8475C>T (n.8475C>T) c.1032C>T c.8371C>T (p.Gln2791Ter) | dbSNP |
13 | g.32370539_32370545del | CA2499222333 | BRCA2 | c.8469_8475del (p.Gln2823HisfsTer?) c.8100_8106del (p.Gln2700HisfsTer?) c.936_942del (p.Gln312HisfsTer?) c.8477_8483del (n.8477_8483del) c.1034_1040del c.8373_8379del (p.Gln2791HisfsTer?) | ClinVar dbSNP |
13 | g.32370538A= | CA2082814289 | BRCA2 | c.8468A= (p.Gln2823=) c.8099A= (p.Gln2700=) c.935A= (p.Gln312=) c.8476A= (n.8476A=) c.1033A= c.8372A= (p.Gln2791=) | |
13 | g.32370538A>C | CA387752615 | BRCA2 | c.8468A>C (p.Gln2823Pro) c.8099A>C (p.Gln2700Pro) c.935A>C (p.Gln312Pro) c.8476A>C (n.8476A>C) c.1033A>C c.8372A>C (p.Gln2791Pro) | |
13 | g.32370538A>G | CA10579788 | BRCA2 | c.8468A>G (p.Gln2823Arg) c.8099A>G (p.Gln2700Arg) c.935A>G (p.Gln312Arg) c.8476A>G (n.8476A>G) c.1033A>G c.8372A>G (p.Gln2791Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32370538A>T | CA387752616 | BRCA2 | c.8468A>T (p.Gln2823Leu) c.8099A>T (p.Gln2700Leu) c.935A>T (p.Gln312Leu) c.8476A>T (n.8476A>T) c.1033A>T c.8372A>T (p.Gln2791Leu) | dbSNP |
13 | g.32370539A= | CA2082814306 | BRCA2 | c.8469A= (p.Gln2823=) c.8100A= (p.Gln2700=) c.936A= (p.Gln312=) c.8477A= (n.8477A=) c.1034A= c.8373A= (p.Gln2791=) | |
13 | g.32370539A>C | CA387752617 | BRCA2 | c.8469A>C (p.Gln2823His) c.8100A>C (p.Gln2700His) c.936A>C (p.Gln312His) c.8477A>C (n.8477A>C) c.1034A>C c.8373A>C (p.Gln2791His) | |
13 | g.32370539A>G | CA483261284 | BRCA2 | c.8469A>G (p.Gln2823=) c.8100A>G (p.Gln2700=) c.936A>G (p.Gln312=) c.8477A>G (n.8477A>G) c.1034A>G c.8373A>G (p.Gln2791=) | ClinVar dbSNP |
13 | g.32370539A>T | CA387752618 | BRCA2 | c.8469A>T (p.Gln2823His) c.8100A>T (p.Gln2700His) c.936A>T (p.Gln312His) c.8477A>T (n.8477A>T) c.1034A>T c.8373A>T (p.Gln2791His) | dbSNP |
13 | g.32370539_32370541delinsAAG | CA2082814303 | BRCA2 | c.8469_8471delinsAAG (p.Gln2823=) c.8100_8102delinsAAG (p.Gln2700=) c.936_938delinsAAG (p.Gln312=) c.8477_8479delinsAAG (n.8477_8479delinsAAG) c.1034_1036delinsAAG c.8373_8375delinsAAG (p.Gln2791=) | |
13 | g.32370540A= | CA2082814318 | BRCA2 | c.8470A= (p.Arg2824=) c.8101A= (p.Arg2701=) c.937A= (p.Arg313=) c.8478A= (n.8478A=) c.1035A= c.8374A= (p.Arg2792=) | |
13 | g.32370540A>C | CA483261285 | BRCA2 | c.8470A>C (p.Arg2824=) c.8101A>C (p.Arg2701=) c.937A>C (p.Arg313=) c.8478A>C (n.8478A>C) c.1035A>C c.8374A>C (p.Arg2792=) | |
13 | g.32370540A>G | CA387752619 | BRCA2 | c.8470A>G (p.Arg2824Gly) c.8101A>G (p.Arg2701Gly) c.937A>G (p.Arg313Gly) c.8478A>G (n.8478A>G) c.1035A>G c.8374A>G (p.Arg2792Gly) | |
13 | g.32370540A>T | CA10589499 | BRCA2 | c.8470A>T (p.Arg2824Ter) c.8101A>T (p.Arg2701Ter) c.937A>T (p.Arg313Ter) c.8478A>T (n.8478A>T) c.1035A>T c.8374A>T (p.Arg2792Ter) | ClinVar dbSNP |
13 | g.32370542_32370543del | CA891843897 | BRCA2 | c.8472_8473del (p.Arg2824SerfsTer20) c.8103_8104del (p.Arg2701SerfsTer20) c.939_940del (p.Arg313SerfsTer20) c.8480_8481del (n.8480_8481del) c.1037_1038del c.8376_8377del (p.Arg2792SerfsTer20) | ClinVar dbSNP |
13 | g.32370541G>A | CA387752620 | BRCA2 | c.8471G>A (p.Arg2824Lys) c.8102G>A (p.Arg2701Lys) c.938G>A (p.Arg313Lys) c.8479G>A (n.8479G>A) c.1036G>A c.8375G>A (p.Arg2792Lys) | ClinVar gnomAD v4 |
13 | g.32370541G>C | CA025659 | BRCA2 | c.8471G>C (p.Arg2824Thr) c.8102G>C (p.Arg2701Thr) c.938G>C (p.Arg313Thr) c.8479G>C (n.8479G>C) c.1036G>C c.8375G>C (p.Arg2792Thr) | ClinVar dbSNP |
13 | g.32370541G= | CA2082814322 | BRCA2 | c.8471G= (p.Arg2824=) c.8102G= (p.Arg2701=) c.938G= (p.Arg313=) c.8479G= (n.8479G=) c.1036G= c.8375G= (p.Arg2792=) | |
13 | g.32370541G>T | CA387752621 | BRCA2 | c.8471G>T (p.Arg2824Ile) c.8102G>T (p.Arg2701Ile) c.938G>T (p.Arg313Ile) c.8479G>T (n.8479G>T) c.1036G>T c.8375G>T (p.Arg2792Ile) | gnomAD v4 |
13 | g.32370541_32370544delinsGAGC | CA2082814328 | BRCA2 | c.8471_8474delinsGAGC (p.Arg2824=) c.8102_8105delinsGAGC (p.Arg2701=) c.938_941delinsGAGC (p.Arg313=) c.8479_8482delinsGAGC (n.8479_8482delinsGAGC) c.1036_1039delinsGAGC c.8375_8378delinsGAGC (p.Arg2792=) | |
13 | g.32370541_32370555delinsGAGCATACCCTATAC | CA2082814325 | BRCA2 | c.8471_8485delinsGAGCATACCCTATAC (p.Arg2824=) c.8102_8116delinsGAGCATACCCTATAC (p.Arg2701=) c.938_952delinsGAGCATACCCTATAC (p.Arg313=) c.8479_8493delinsGAGCATACCCTATAC (n.8479_8493delinsGAGCATACCCTATAC) c.1036_1050delinsGAGCATACCCTATAC c.8375_8389delinsGAGCATACCCTATAC (p.Arg2792=) | |
13 | g.32370542A= | CA2082814343 | BRCA2 | c.8472A= (p.Arg2824=) c.8103A= (p.Arg2701=) c.939A= (p.Arg313=) c.8480A= (n.8480A=) c.1037A= c.8376A= (p.Arg2792=) | |
13 | g.32370542A>C | CA387752623 | BRCA2 | c.8472A>C (p.Arg2824Ser) c.8103A>C (p.Arg2701Ser) c.939A>C (p.Arg313Ser) c.8480A>C (n.8480A>C) c.1037A>C c.8376A>C (p.Arg2792Ser) | |
13 | g.32370542A>G | CA483261288 | BRCA2 | c.8472A>G (p.Arg2824=) c.8103A>G (p.Arg2701=) c.939A>G (p.Arg313=) c.8480A>G (n.8480A>G) c.1037A>G c.8376A>G (p.Arg2792=) | ClinVar dbSNP |
13 | g.32370542A>T | CA387752622 | BRCA2 | c.8472A>T (p.Arg2824Ser) c.8103A>T (p.Arg2701Ser) c.939A>T (p.Arg313Ser) c.8480A>T (n.8480A>T) c.1037A>T c.8376A>T (p.Arg2792Ser) | dbSNP COSMIC COSMIC |
13 | g.32370542_32370545delinsC | CA2580087376 | BRCA2 | c.8472_8475delinsC (p.Arg2824_Ala2825delinsSer) c.8103_8106delinsC (p.Arg2701_Ala2702delinsSer) c.939_942delinsC (p.Arg313_Ala314delinsSer) c.8480_8483delinsC (n.8480_8483delinsC) c.1037_1040delinsC c.8376_8379delinsC (p.Arg2792_Ala2793delinsSer) | ClinVar |
13 | g.32370543_32370545del | CA2082814338 | BRCA2 | c.8473_8475del (p.Ala2825del) c.8104_8106del (p.Ala2702del) c.940_942del (p.Ala314del) c.8481_8483del (n.8481_8483del) c.1038_1040del c.8377_8379del (p.Ala2793del) | ClinVar dbSNP |
13 | g.32370544_32370557del | CA915946895 | BRCA2 | c.8474_8487del (p.Ala2825ValfsTer15) c.8105_8118del (p.Ala2702ValfsTer15) c.941_954del (p.Ala314ValfsTer15) c.8482_8495del (n.8482_8495del) c.1039_1052del c.8378_8391del (p.Ala2793ValfsTer15) | ClinVar dbSNP |
13 | g.32370543G>A | CA387752624 | BRCA2 | c.8473G>A (p.Ala2825Thr) c.8104G>A (p.Ala2702Thr) c.940G>A (p.Ala314Thr) c.8481G>A (n.8481G>A) c.1038G>A c.8377G>A (p.Ala2793Thr) | ClinVar dbSNP |
13 | g.32370543G>C | CA387752625 | BRCA2 | c.8473G>C (p.Ala2825Pro) c.8104G>C (p.Ala2702Pro) c.940G>C (p.Ala314Pro) c.8481G>C (n.8481G>C) c.1038G>C c.8377G>C (p.Ala2793Pro) | ClinVar dbSNP |
13 | g.32370543G= | CA2082814356 | BRCA2 | c.8473G= (p.Ala2825=) c.8104G= (p.Ala2702=) c.940G= (p.Ala314=) c.8481G= (n.8481G=) c.1038G= c.8377G= (p.Ala2793=) | |
13 | g.32370543G>T | CA025660 | BRCA2 | c.8473G>T (p.Ala2825Ser) c.8104G>T (p.Ala2702Ser) c.940G>T (p.Ala314Ser) c.8481G>T (n.8481G>T) c.1038G>T c.8377G>T (p.Ala2793Ser) | ClinVar dbSNP |
13 | g.32370543_32370544delinsGC | CA2082814351 | BRCA2 | c.8473_8474delinsGC (p.Ala2825=) c.8104_8105delinsGC (p.Ala2702=) c.940_941delinsGC (p.Ala314=) c.8481_8482delinsGC (n.8481_8482delinsGC) c.1038_1039delinsGC c.8377_8378delinsGC (p.Ala2793=) | |
13 | g.32370544del | CA025661 | BRCA2 | c.8474del (p.Ala2825AspfsTer?) c.8105del (p.Ala2702AspfsTer?) c.941del (p.Ala314AspfsTer?) c.8482del (n.8482del) c.1039del c.8378del (p.Ala2793AspfsTer?) | ClinVar dbSNP |
13 | g.32370544C>A | CA387752626 | BRCA2 | c.8474C>A (p.Ala2825Glu) c.8105C>A (p.Ala2702Glu) c.941C>A (p.Ala314Glu) c.8482C>A (n.8482C>A) c.1039C>A c.8378C>A (p.Ala2793Glu) | ClinVar dbSNP |
13 | g.32370544C= | CA2082814364 | BRCA2 | c.8474C= (p.Ala2825=) c.8105C= (p.Ala2702=) c.941C= (p.Ala314=) c.8482C= (n.8482C=) c.1039C= c.8378C= (p.Ala2793=) | |
13 | g.32370544C>G | CA387752627 | BRCA2 | c.8474C>G (p.Ala2825Gly) c.8105C>G (p.Ala2702Gly) c.941C>G (p.Ala314Gly) c.8482C>G (n.8482C>G) c.1039C>G c.8378C>G (p.Ala2793Gly) | dbSNP |
13 | g.32370544C>T | CA387752628 | BRCA2 | c.8474C>T (p.Ala2825Val) c.8105C>T (p.Ala2702Val) c.941C>T (p.Ala314Val) c.8482C>T (n.8482C>T) c.1039C>T c.8378C>T (p.Ala2793Val) | ClinVar dbSNP |
13 | g.32370545A= | CA2082814375 | BRCA2 | c.8475A= (p.Ala2825=) c.8106A= (p.Ala2702=) c.942A= (p.Ala314=) c.8483A= (n.8483A=) c.1040A= c.8379A= (p.Ala2793=) | |
13 | g.32370545A>C | CA483261290 | BRCA2 | c.8475A>C (p.Ala2825=) c.8106A>C (p.Ala2702=) c.942A>C (p.Ala314=) c.8483A>C (n.8483A>C) c.1040A>C c.8379A>C (p.Ala2793=) | ClinVar dbSNP |
13 | g.32370545A>G | CA483261291 | BRCA2 | c.8475A>G (p.Ala2825=) c.8106A>G (p.Ala2702=) c.942A>G (p.Ala314=) c.8483A>G (n.8483A>G) c.1040A>G c.8379A>G (p.Ala2793=) | ClinVar dbSNP gnomAD v4 |
13 | g.32370545A>T | CA483261292 | BRCA2 | c.8475A>T (p.Ala2825=) c.8106A>T (p.Ala2702=) c.942A>T (p.Ala314=) c.8483A>T (n.8483A>T) c.1040A>T c.8379A>T (p.Ala2793=) | dbSNP |
13 | g.32370546T>A | CA387752629 | BRCA2 | c.8476T>A (p.Tyr2826Asn) c.8107T>A (p.Tyr2703Asn) c.943T>A (p.Tyr315Asn) c.8484T>A (n.8484T>A) c.1041T>A c.8380T>A (p.Tyr2794Asn) | ClinVar dbSNP |
13 | g.32370546T>C | CA387752630 | BRCA2 | c.8476T>C (p.Tyr2826His) c.8107T>C (p.Tyr2703His) c.943T>C (p.Tyr315His) c.8484T>C (n.8484T>C) c.1041T>C c.8380T>C (p.Tyr2794His) | |
13 | g.32370546T>G | CA387752631 | BRCA2 | c.8476T>G (p.Tyr2826Asp) c.8107T>G (p.Tyr2703Asp) c.943T>G (p.Tyr315Asp) c.8484T>G (n.8484T>G) c.1041T>G c.8380T>G (p.Tyr2794Asp) | dbSNP |
13 | g.32370547A= | CA2082814392 | BRCA2 | c.8477A= (p.Tyr2826=) c.8108A= (p.Tyr2703=) c.944A= (p.Tyr315=) c.8485A= (n.8485A=) c.1042A= c.8381A= (p.Tyr2794=) | |
13 | g.32370547A>C | CA387752632 | BRCA2 | c.8477A>C (p.Tyr2826Ser) c.8108A>C (p.Tyr2703Ser) c.944A>C (p.Tyr315Ser) c.8485A>C (n.8485A>C) c.1042A>C c.8381A>C (p.Tyr2794Ser) | dbSNP |
13 | g.32370547A>G | CA387752633 | BRCA2 | c.8477A>G (p.Tyr2826Cys) c.8108A>G (p.Tyr2703Cys) c.944A>G (p.Tyr315Cys) c.8485A>G (n.8485A>G) c.1042A>G c.8381A>G (p.Tyr2794Cys) | ClinVar dbSNP |
13 | g.32370547A>T | CA387752634 | BRCA2 | c.8477A>T (p.Tyr2826Phe) c.8108A>T (p.Tyr2703Phe) c.944A>T (p.Tyr315Phe) c.8485A>T (n.8485A>T) c.1042A>T c.8381A>T (p.Tyr2794Phe) | ClinVar dbSNP |
13 | g.32370547_32370548delinsAC | CA2082814385 | BRCA2 | c.8477_8478delinsAC (p.Tyr2826=) c.8108_8109delinsAC (p.Tyr2703=) c.944_945delinsAC (p.Tyr315=) c.8485_8486delinsAC (n.8485_8486delinsAC) c.1042_1043delinsAC c.8381_8382delinsAC (p.Tyr2794=) | |
13 | g.32370548C>A | CA6941230 | BRCA2 | c.8478C>A (p.Tyr2826Ter) c.8109C>A (p.Tyr2703Ter) c.945C>A (p.Tyr315Ter) c.8486C>A (n.8486C>A) c.1043C>A c.8382C>A (p.Tyr2794Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370548C= | CA2082814402 | BRCA2 | c.8478C= (p.Tyr2826=) c.8109C= (p.Tyr2703=) c.945C= (p.Tyr315=) c.8486C= (n.8486C=) c.1043C= c.8382C= (p.Tyr2794=) | |
13 | g.32370548C>G | CA10589500 | BRCA2 | c.8478C>G (p.Tyr2826Ter) c.8109C>G (p.Tyr2703Ter) c.945C>G (p.Tyr315Ter) c.8486C>G (n.8486C>G) c.1043C>G c.8382C>G (p.Tyr2794Ter) | ClinVar dbSNP |
13 | g.32370548C>T | CA483261295 | BRCA2 | c.8478C>T (p.Tyr2826=) c.8109C>T (p.Tyr2703=) c.945C>T (p.Tyr315=) c.8486C>T (n.8486C>T) c.1043C>T c.8382C>T (p.Tyr2794=) | ClinVar dbSNP |
13 | g.32370550del | CA919242933 | BRCA2 | c.8480del (p.Pro2827LeufsTer?) c.8111del (p.Pro2704LeufsTer?) c.947del (p.Pro316LeufsTer?) c.8488del (n.8488del) c.1045del c.8384del (p.Pro2795LeufsTer?) | ClinVar dbSNP |
13 | g.32370548_32370565delinsCCCTATACAGGTATGATG | CA2082814410 | BRCA2 | c.8478_8487+8delinsCCCTATACAGGTATGATG c.8109_8118+8delinsCCCTATACAGGTATGATG c.945_954+8delinsCCCTATACAGGTATGATG c.8486_8495+8delinsCCCTATACAGGTATGATG c.1043_1052+8delinsCCCTATACAGGTATGATG c.8382_8391+8delinsCCCTATACAGGTATGATG | |
13 | g.32370549C>A | CA387752635 | BRCA2 | c.8479C>A (p.Pro2827Thr) c.8110C>A (p.Pro2704Thr) c.946C>A (p.Pro316Thr) c.8487C>A (n.8487C>A) c.1044C>A c.8383C>A (p.Pro2795Thr) | dbSNP |
13 | g.32370549C= | CA2082814419 | BRCA2 | c.8479C= (p.Pro2827=) c.8110C= (p.Pro2704=) c.946C= (p.Pro316=) c.8487C= (n.8487C=) c.1044C= c.8383C= (p.Pro2795=) | |
13 | g.32370549C>G | CA10579789 | BRCA2 | c.8479C>G (p.Pro2827Ala) c.8110C>G (p.Pro2704Ala) c.946C>G (p.Pro316Ala) c.8487C>G (n.8487C>G) c.1044C>G c.8383C>G (p.Pro2795Ala) | ClinVar dbSNP gnomAD v2 |
13 | g.32370549C>T | CA025662 | BRCA2 | c.8479C>T (p.Pro2827Ser) c.8110C>T (p.Pro2704Ser) c.946C>T (p.Pro316Ser) c.8487C>T (n.8487C>T) c.1044C>T c.8383C>T (p.Pro2795Ser) | ClinVar dbSNP |
13 | g.32370549_32370565del | CA891843898 | BRCA2 | c.8479_8487+8del c.8110_8118+8del c.946_954+8del c.8487_8495+8del c.1044_1052+8del c.8383_8391+8del | ClinVar dbSNP |
13 | g.32370550C>A | CA387752636 | BRCA2 | c.8480C>A (p.Pro2827His) c.8111C>A (p.Pro2704His) c.947C>A (p.Pro316His) c.8488C>A (n.8488C>A) c.1045C>A c.8384C>A (p.Pro2795His) | dbSNP |
13 | g.32370550C>G | CA387752637 | BRCA2 | c.8480C>G (p.Pro2827Arg) c.8111C>G (p.Pro2704Arg) c.947C>G (p.Pro316Arg) c.8488C>G (n.8488C>G) c.1045C>G c.8384C>G (p.Pro2795Arg) | dbSNP COSMIC COSMIC |
13 | g.32370550C>T | CA387752638 | BRCA2 | c.8480C>T (p.Pro2827Leu) c.8111C>T (p.Pro2704Leu) c.947C>T (p.Pro316Leu) c.8488C>T (n.8488C>T) c.1045C>T c.8384C>T (p.Pro2795Leu) | dbSNP |
13 | g.32370551T>A | CA16606449 | BRCA2 | c.8481T>A (p.Pro2827=) c.8112T>A (p.Pro2704=) c.948T>A (p.Pro316=) c.8489T>A (n.8489T>A) c.1046T>A c.8385T>A (p.Pro2795=) | ClinVar dbSNP |
13 | g.32370551T>C | CA483261302 | BRCA2 | c.8481T>C (p.Pro2827=) c.8112T>C (p.Pro2704=) c.948T>C (p.Pro316=) c.8489T>C (n.8489T>C) c.1046T>C c.8385T>C (p.Pro2795=) | ClinVar dbSNP |
13 | g.32370551T>G | CA483261303 | BRCA2 | c.8481T>G (p.Pro2827=) c.8112T>G (p.Pro2704=) c.948T>G (p.Pro316=) c.8489T>G (n.8489T>G) c.1046T>G c.8385T>G (p.Pro2795=) | |
13 | g.32370551T= | CA2082814430 | BRCA2 | c.8481T= (p.Pro2827=) c.8112T= (p.Pro2704=) c.948T= (p.Pro316=) c.8489T= (n.8489T=) c.1046T= c.8385T= (p.Pro2795=) | |
13 | g.32370552A= | CA2082814441 | BRCA2 | c.8482A= (p.Ile2828=) c.8113A= (p.Ile2705=) c.949A= (p.Ile317=) c.8490A= (n.8490A=) c.1047A= c.8386A= (p.Ile2796=) | |
13 | g.32370552A>C | CA387752639 | BRCA2 | c.8482A>C (p.Ile2828Leu) c.8113A>C (p.Ile2705Leu) c.949A>C (p.Ile317Leu) c.8490A>C (n.8490A>C) c.1047A>C c.8386A>C (p.Ile2796Leu) | |
13 | g.32370552A>G | CA025664 | BRCA2 | c.8482A>G (p.Ile2828Val) c.8113A>G (p.Ile2705Val) c.949A>G (p.Ile317Val) c.8490A>G (n.8490A>G) c.1047A>G c.8386A>G (p.Ile2796Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370552A>T | CA387752640 | BRCA2 | c.8482A>T (p.Ile2828Leu) c.8113A>T (p.Ile2705Leu) c.949A>T (p.Ile317Leu) c.8490A>T (n.8490A>T) c.1047A>T c.8386A>T (p.Ile2796Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32370552dup | CA2697551747 | BRCA2 | c.8482dup (p.Ile2828AsnfsTer17) c.8113dup (p.Ile2705AsnfsTer17) c.949dup (p.Ile317AsnfsTer17) c.8490dup (n.8490dup) c.1047dup c.8386dup (p.Ile2796AsnfsTer17) | ClinVar |
13 | g.32370553_32370554insGAATATGAAAT | CA2739277518 | BRCA2 | c.8483_8484insGAATATGAAAT (p.Ile2828MetfsTer?) c.8114_8115insGAATATGAAAT (p.Ile2705MetfsTer?) c.950_951insGAATATGAAAT (p.Ile317MetfsTer?) c.8491_8492insGAATATGAAAT (n.8491_8492insGAATATGAAAT) c.1048_1049insGAATATGAAAT c.8387_8388insGAATATGAAAT (p.Ile2796MetfsTer?) | ClinVar |
13 | g.32370553T>A | CA387752641 | BRCA2 | c.8483T>A (p.Ile2828Lys) c.8114T>A (p.Ile2705Lys) c.950T>A (p.Ile317Lys) c.8491T>A (n.8491T>A) c.1048T>A c.8387T>A (p.Ile2796Lys) | ClinVar dbSNP |
13 | g.32370553T>C | CA387752642 | BRCA2 | c.8483T>C (p.Ile2828Thr) c.8114T>C (p.Ile2705Thr) c.950T>C (p.Ile317Thr) c.8491T>C (n.8491T>C) c.1048T>C c.8387T>C (p.Ile2796Thr) | dbSNP |
13 | g.32370553T>G | CA387752643 | BRCA2 | c.8483T>G (p.Ile2828Arg) c.8114T>G (p.Ile2705Arg) c.950T>G (p.Ile317Arg) c.8491T>G (n.8491T>G) c.1048T>G c.8387T>G (p.Ile2796Arg) | dbSNP |
13 | g.32370553T= | CA2082814451 | BRCA2 | c.8483T= (p.Ile2828=) c.8114T= (p.Ile2705=) c.950T= (p.Ile317=) c.8491T= (n.8491T=) c.1048T= c.8387T= (p.Ile2796=) | |
13 | g.32370553_32370554delinsTA | CA2082814452 | BRCA2 | c.8483_8484delinsTA (p.Ile2828=) c.8114_8115delinsTA (p.Ile2705=) c.950_951delinsTA (p.Ile317=) c.8491_8492delinsTA (n.8491_8492delinsTA) c.1048_1049delinsTA c.8387_8388delinsTA (p.Ile2796=) | |
13 | g.32370554del | CA919242935 | BRCA2 | c.8484del (p.Gln2829SerfsTer?) c.8115del (p.Gln2706SerfsTer?) c.951del (p.Gln318SerfsTer?) c.8492del (n.8492del) c.1049del c.8388del (p.Gln2797SerfsTer?) | dbSNP |
13 | g.32370554A= | CA2082814461 | BRCA2 | c.8484A= (p.Ile2828=) c.8115A= (p.Ile2705=) c.951A= (p.Ile317=) c.8492A= (n.8492A=) c.1049A= c.8388A= (p.Ile2796=) | |
13 | g.32370554A>C | CA483261305 | BRCA2 | c.8484A>C (p.Ile2828=) c.8115A>C (p.Ile2705=) c.951A>C (p.Ile317=) c.8492A>C (n.8492A>C) c.1049A>C c.8388A>C (p.Ile2796=) | dbSNP |
13 | g.32370554A>G | CA247483644 | BRCA2 | c.8484A>G (p.Ile2828Met) c.8115A>G (p.Ile2705Met) c.951A>G (p.Ile317Met) c.8492A>G (n.8492A>G) c.1049A>G c.8388A>G (p.Ile2796Met) | ClinVar dbSNP |
13 | g.32370554A>T | CA483261306 | BRCA2 | c.8484A>T (p.Ile2828=) c.8115A>T (p.Ile2705=) c.951A>T (p.Ile317=) c.8492A>T (n.8492A>T) c.1049A>T c.8388A>T (p.Ile2796=) | dbSNP |
13 | g.32370554dup | CA2499222334 | BRCA2 | c.8484dup (p.Gln2829ThrfsTer16) c.8115dup (p.Gln2706ThrfsTer16) c.951dup (p.Gln318ThrfsTer16) c.8492dup (n.8492dup) c.1049dup c.8388dup (p.Gln2797ThrfsTer16) | ClinVar dbSNP |
13 | g.32370555C>A | CA387752644 | BRCA2 | c.8485C>A (p.Gln2829Lys) c.8116C>A (p.Gln2706Lys) c.952C>A (p.Gln318Lys) c.8493C>A (n.8493C>A) c.1050C>A c.8389C>A (p.Gln2797Lys) | ClinVar dbSNP |
13 | g.32370555C= | CA2082814471 | BRCA2 | c.8485C= (p.Gln2829=) c.8116C= (p.Gln2706=) c.952C= (p.Gln318=) c.8493C= (n.8493C=) c.1050C= c.8389C= (p.Gln2797=) | |
13 | g.32370555C>G | CA387752645 | BRCA2 | c.8485C>G (p.Gln2829Glu) c.8116C>G (p.Gln2706Glu) c.952C>G (p.Gln318Glu) c.8493C>G (n.8493C>G) c.1050C>G c.8389C>G (p.Gln2797Glu) | dbSNP |
13 | g.32370555C>T | CA025665 | BRCA2 | c.8485C>T (p.Gln2829Ter) c.8116C>T (p.Gln2706Ter) c.952C>T (p.Gln318Ter) c.8493C>T (n.8493C>T) c.1050C>T c.8389C>T (p.Gln2797Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32370556A= | CA2082814488 | BRCA2 | c.8486A= (p.Gln2829=) c.8117A= (p.Gln2706=) c.953A= (p.Gln318=) c.8494A= (n.8494A=) c.1051A= c.8390A= (p.Gln2797=) | |
13 | g.32370556A>C | CA387752646 | BRCA2 | c.8486A>C (p.Gln2829Pro) c.8117A>C (p.Gln2706Pro) c.953A>C (p.Gln318Pro) c.8494A>C (n.8494A>C) c.1051A>C c.8390A>C (p.Gln2797Pro) | ClinVar dbSNP |
13 | g.32370556A>G | CA025666 | BRCA2 | c.8486A>G (p.Gln2829Arg) c.8117A>G (p.Gln2706Arg) c.953A>G (p.Gln318Arg) c.8494A>G (n.8494A>G) c.1051A>G c.8390A>G (p.Gln2797Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32370556A>T | CA025667 | BRCA2 | c.8486A>T (p.Gln2829Leu) c.8117A>T (p.Gln2706Leu) c.953A>T (p.Gln318Leu) c.8494A>T (n.8494A>T) c.1051A>T c.8390A>T (p.Gln2797Leu) | ClinVar dbSNP |
13 | g.32370556_32370564delinsCCTATG | CA2580087380 | BRCA2 | c.8486_8487+7delinsCCTATG c.8117_8118+7delinsCCTATG c.953_954+7delinsCCTATG c.8494_8495+7delinsCCTATG c.1051_1052+7delinsCCTATG c.8390_8391+7delinsCCTATG | ClinVar |
13 | g.32370557G>A | CA483261310 | BRCA2 | c.8487G>A (p.Gln2829=) c.8118G>A (p.Gln2706=) c.954G>A (p.Gln318=) c.8495G>A (n.8495G>A) c.1052G>A c.8391G>A (p.Gln2797=) | dbSNP |
13 | g.32370557G>C | CA387752647 | BRCA2 | c.8487G>C (p.Gln2829His) c.8118G>C (p.Gln2706His) c.954G>C (p.Gln318His) c.8495G>C (n.8495G>C) c.1052G>C c.8391G>C (p.Gln2797His) | dbSNP COSMIC COSMIC |
13 | g.32370557G>T | CA387752648 | BRCA2 | c.8487G>T (p.Gln2829His) c.8118G>T (p.Gln2706His) c.954G>T (p.Gln318His) c.8495G>T (n.8495G>T) c.1052G>T c.8391G>T (p.Gln2797His) | dbSNP |
13 | g.32370558G>A | CA025670 | BRCA2 | c.8487+1G>A (n.8487+1G>A) c.8118+1G>A (n.8118+1G>A) c.954+1G>A (n.954+1G>A) c.8495+1G>A (n.8495+1G>A) c.1052+1G>A c.8391+1G>A (n.8391+1G>A) | ClinVar dbSNP gnomAD v4 |
13 | g.32370558G>C | CA387752649 | BRCA2 | c.8487+1G>C (n.8487+1G>C) c.8118+1G>C (n.8118+1G>C) c.954+1G>C (n.954+1G>C) c.8495+1G>C (n.8495+1G>C) c.1052+1G>C c.8391+1G>C (n.8391+1G>C) | ClinVar dbSNP gnomAD v4 |
13 | g.32370558G= | CA2082814502 | BRCA2 | c.8487+1G= (n.8487+1G=) c.8118+1G= (n.8118+1G=) c.954+1G= (n.954+1G=) c.8495+1G= (n.8495+1G=) c.1052+1G= c.8391+1G= (n.8391+1G=) | |
13 | g.32370558G>T | CA025671 | BRCA2 | c.8487+1G>T (n.8487+1G>T) c.8118+1G>T (n.8118+1G>T) c.954+1G>T (n.954+1G>T) c.8495+1G>T (n.8495+1G>T) c.1052+1G>T c.8391+1G>T (n.8391+1G>T) | ClinVar dbSNP |
13 | g.32370558_32370559delinsGT | CA2082814504 | BRCA2 | c.8487+1_8487+2delinsGT (n.8487+1_8487+2delinsGT) c.8118+1_8118+2delinsGT (n.8118+1_8118+2delinsGT) c.954+1_954+2delinsGT (n.954+1_954+2delinsGT) c.8495+1_8495+2delinsGT (n.8495+1_8495+2delinsGT) c.1052+1_1052+2delinsGT c.8391+1_8391+2delinsGT (n.8391+1_8391+2delinsGT) |