| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32370402_32380145del | CA2581463483 | BRCA2 | c.8332_9256del c.8332_*623del c.7963_8887del c.8332_*818del c.8332_9205del c.799_1672del c.8340_9264del c.897_2134del c.8236_9160del | |
| 13 | g.32370503_32371631dup | CA2580087371 | BRCA2 | c.8433_8632+531dup c.8064_8263+531dup c.900_1099+531dup c.8441_8640+531dup c.998_1197+531dup c.8337_8536+531dup | ClinVar |
| 13 | g.32371019_32371038dup | CA2499222337 | BRCA2 | c.8551_8570dup (p.Lys2860AsnfsTer10) c.8182_8201dup (p.Lys2737AsnfsTer10) c.1018_1037dup (p.Lys349AsnfsTer10) c.8559_8578dup (n.8559_8578dup) c.1116_1135dup c.49_68dup (p.Lys26AsnfsTer10) c.8455_8474dup (p.Lys2828AsnfsTer10) | |
| 13 | g.32371029_32371036dup | CA916080528 | BRCA2 | c.8561_8568dup (p.Ala2857MetfsTer9) c.8192_8199dup (p.Ala2734MetfsTer9) c.1028_1035dup (p.Ala346MetfsTer9) c.8569_8576dup (n.8569_8576dup) c.1126_1133dup c.59_66dup (p.Ala23MetfsTer9) c.8465_8472dup (p.Ala2825MetfsTer9) | ClinVar dbSNP |
| 13 | g.32371033_32371035delinsGGA | CA2082815999 | BRCA2 | c.8565_8567delinsGGA (p.Val2855=) c.8196_8198delinsGGA (p.Val2732=) c.1032_1034delinsGGA (p.Val344=) c.8573_8575delinsGGA (n.8573_8575delinsGGA) c.1130_1132delinsGGA c.63_65delinsGGA (p.Val21=) c.8469_8471delinsGGA (p.Val2823=) | |
| 13 | g.32371034_32371035delinsC | CA10576074 | BRCA2 | c.8566_8567delinsC (p.Glu2856ArgfsTer7) c.8197_8198delinsC (p.Glu2733ArgfsTer7) c.1033_1034delinsC (p.Glu345ArgfsTer7) c.8574_8575delinsC (n.8574_8575delinsC) c.1131_1132delinsC c.64_65delinsC (p.Glu22ArgfsTer7) c.8470_8471delinsC (p.Glu2824ArgfsTer7) | ClinVar dbSNP |
| 13 | g.32371034_32371039del | CA2515000285 | BRCA2 | c.8566_8571del (p.Glu2856_Ala2857del) c.8197_8202del (p.Glu2733_Ala2734del) c.1033_1038del (p.Glu345_Ala346del) c.8574_8579del (n.8574_8579del) c.1131_1136del c.64_69del (p.Glu22_Ala23del) c.8470_8475del (p.Glu2824_Ala2825del) | |
| 13 | g.32371035A= | CA2082816016 | BRCA2 | c.8567A= (p.Glu2856=) c.8198A= (p.Glu2733=) c.1034A= (p.Glu345=) c.8575A= (n.8575A=) c.1132A= c.65A= (p.Glu22=) c.8471A= (p.Glu2824=) | |
| 13 | g.32371035A>C | CA025712 | BRCA2 | c.8567A>C (p.Glu2856Ala) c.8198A>C (p.Glu2733Ala) c.1034A>C (p.Glu345Ala) c.8575A>C (n.8575A>C) c.1132A>C c.65A>C (p.Glu22Ala) c.8471A>C (p.Glu2824Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371035A>G | CA387752813 | BRCA2 | c.8567A>G (p.Glu2856Gly) c.8198A>G (p.Glu2733Gly) c.1034A>G (p.Glu345Gly) c.8575A>G (n.8575A>G) c.1132A>G c.65A>G (p.Glu22Gly) c.8471A>G (p.Glu2824Gly) | dbSNP |
| 13 | g.32371035A>T | CA387752814 | BRCA2 | c.8567A>T (p.Glu2856Val) c.8198A>T (p.Glu2733Val) c.1034A>T (p.Glu345Val) c.8575A>T (n.8575A>T) c.1132A>T c.65A>T (p.Glu22Val) c.8471A>T (p.Glu2824Val) | ClinVar dbSNP |
| 13 | g.32371036G>A | CA16606451 | BRCA2 | c.8568G>A (p.Glu2856=) c.8199G>A (p.Glu2733=) c.1035G>A (p.Glu345=) c.8576G>A (n.8576G>A) c.1133G>A c.66G>A (p.Glu22=) c.8472G>A (p.Glu2824=) | ClinVar dbSNP |
| 13 | g.32371036G>C | CA387752815 | BRCA2 | c.8568G>C (p.Glu2856Asp) c.8199G>C (p.Glu2733Asp) c.1035G>C (p.Glu345Asp) c.8576G>C (n.8576G>C) c.1133G>C c.66G>C (p.Glu22Asp) c.8472G>C (p.Glu2824Asp) | ClinVar dbSNP |
| 13 | g.32371036G= | CA2082816025 | BRCA2 | c.8568G= (p.Glu2856=) c.8199G= (p.Glu2733=) c.1035G= (p.Glu345=) c.8576G= (n.8576G=) c.1133G= c.66G= (p.Glu22=) c.8472G= (p.Glu2824=) | |
| 13 | g.32371036G>T | CA10583143 | BRCA2 | c.8568G>T (p.Glu2856Asp) c.8199G>T (p.Glu2733Asp) c.1035G>T (p.Glu345Asp) c.8576G>T (n.8576G>T) c.1133G>T c.66G>T (p.Glu22Asp) c.8472G>T (p.Glu2824Asp) | ClinVar dbSNP |
| 13 | g.32371037del | CA2573149215 | BRCA2 | c.8569del (p.Ala2857ProfsTer6) c.8200del (p.Ala2734ProfsTer6) c.1036del (p.Ala346ProfsTer6) c.8577del (n.8577del) c.1134del c.67del (p.Ala23ProfsTer6) c.8473del (p.Ala2825ProfsTer6) | ClinVar dbSNP |
| 13 | g.32371037G>A | CA387752816 | BRCA2 | c.8569G>A (p.Ala2857Thr) c.8200G>A (p.Ala2734Thr) c.1036G>A (p.Ala346Thr) c.8577G>A (n.8577G>A) c.1134G>A c.67G>A (p.Ala23Thr) c.8473G>A (p.Ala2825Thr) | ClinVar dbSNP |
| 13 | g.32371037G>C | CA350121 | BRCA2 | c.8569G>C (p.Ala2857Pro) c.8200G>C (p.Ala2734Pro) c.1036G>C (p.Ala346Pro) c.8577G>C (n.8577G>C) c.1134G>C c.67G>C (p.Ala23Pro) c.8473G>C (p.Ala2825Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371037G= | CA2082816045 | BRCA2 | c.8569G= (p.Ala2857=) c.8200G= (p.Ala2734=) c.1036G= (p.Ala346=) c.8577G= (n.8577G=) c.1134G= c.67G= (p.Ala23=) c.8473G= (p.Ala2825=) | |
| 13 | g.32371037G>T | CA025713 | BRCA2 | c.8569G>T (p.Ala2857Ser) c.8200G>T (p.Ala2734Ser) c.1036G>T (p.Ala346Ser) c.8577G>T (n.8577G>T) c.1134G>T c.67G>T (p.Ala23Ser) c.8473G>T (p.Ala2825Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32371037_32371038delinsGC | CA2082816053 | BRCA2 | c.8569_8570delinsGC (p.Ala2857=) c.8200_8201delinsGC (p.Ala2734=) c.1036_1037delinsGC (p.Ala346=) c.8577_8578delinsGC (n.8577_8578delinsGC) c.1134_1135delinsGC c.67_68delinsGC (p.Ala23=) c.8473_8474delinsGC (p.Ala2825=) | |
| 13 | g.32371037_32371044del | CA2511483729 | BRCA2 | c.8569_8576del (p.Ala2857LysfsTer9) c.8200_8207del (p.Ala2734LysfsTer9) c.1036_1043del (p.Ala346LysfsTer9) c.8577_8584del (n.8577_8584del) c.1134_1141del c.67_74del (p.Ala23LysfsTer9) c.8473_8480del (p.Ala2825LysfsTer9) | |
| 13 | g.32371038C>A | CA387752817 | BRCA2 | c.8570C>A (p.Ala2857Asp) c.8201C>A (p.Ala2734Asp) c.1037C>A (p.Ala346Asp) c.8578C>A (n.8578C>A) c.1135C>A c.68C>A (p.Ala23Asp) c.8474C>A (p.Ala2825Asp) | dbSNP |
| 13 | g.32371038C= | CA2082816065 | BRCA2 | c.8570C= (p.Ala2857=) c.8201C= (p.Ala2734=) c.1037C= (p.Ala346=) c.8578C= (n.8578C=) c.1135C= c.68C= (p.Ala23=) c.8474C= (p.Ala2825=) | |
| 13 | g.32371038C>G | CA387752818 | BRCA2 | c.8570C>G (p.Ala2857Gly) c.8201C>G (p.Ala2734Gly) c.1037C>G (p.Ala346Gly) c.8578C>G (n.8578C>G) c.1135C>G c.68C>G (p.Ala23Gly) c.8474C>G (p.Ala2825Gly) | dbSNP |
| 13 | g.32371038C>T | CA6941260 | BRCA2 | c.8570C>T (p.Ala2857Val) c.8201C>T (p.Ala2734Val) c.1037C>T (p.Ala346Val) c.8578C>T (n.8578C>T) c.1135C>T c.68C>T (p.Ala23Val) c.8474C>T (p.Ala2825Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32371040del | CA10589509 | BRCA2 | c.8572del (p.Gln2858AsnfsTer5) c.8203del (p.Gln2735AsnfsTer5) c.1039del (p.Gln347AsnfsTer5) c.8580del (n.8580del) c.1137del c.70del (p.Gln24AsnfsTer5) c.8476del (p.Gln2826AsnfsTer5) | ClinVar dbSNP |
| 13 | g.32371039C>A | CA483261524 | BRCA2 | c.8571C>A (p.Ala2857=) c.8202C>A (p.Ala2734=) c.1038C>A (p.Ala346=) c.8579C>A (n.8579C>A) c.1136C>A c.69C>A (p.Ala23=) c.8475C>A (p.Ala2825=) | ClinVar dbSNP |
| 13 | g.32371039C>G | CA483261525 | BRCA2 | c.8571C>G (p.Ala2857=) c.8202C>G (p.Ala2734=) c.1038C>G (p.Ala346=) c.8579C>G (n.8579C>G) c.1136C>G c.69C>G (p.Ala23=) c.8475C>G (p.Ala2825=) | dbSNP |
| 13 | g.32371039C>T | CA483261526 | BRCA2 | c.8571C>T (p.Ala2857=) c.8202C>T (p.Ala2734=) c.1038C>T (p.Ala346=) c.8579C>T (n.8579C>T) c.1136C>T c.69C>T (p.Ala23=) c.8475C>T (p.Ala2825=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371040C>A | CA025715 | BRCA2 | c.8572C>A (p.Gln2858Lys) c.8203C>A (p.Gln2735Lys) c.1039C>A (p.Gln347Lys) c.8580C>A (n.8580C>A) c.1137C>A c.70C>A (p.Gln24Lys) c.8476C>A (p.Gln2826Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371040C= | CA2082816082 | BRCA2 | c.8572C= (p.Gln2858=) c.8203C= (p.Gln2735=) c.1039C= (p.Gln347=) c.8580C= (n.8580C=) c.1137C= c.70C= (p.Gln24=) c.8476C= (p.Gln2826=) | |
| 13 | g.32371040C>G | CA387752819 | BRCA2 | c.8572C>G (p.Gln2858Glu) c.8203C>G (p.Gln2735Glu) c.1039C>G (p.Gln347Glu) c.8580C>G (n.8580C>G) c.1137C>G c.70C>G (p.Gln24Glu) c.8476C>G (p.Gln2826Glu) | |
| 13 | g.32371040C>T | CA025716 | BRCA2 | c.8572C>T (p.Gln2858Ter) c.8203C>T (p.Gln2735Ter) c.1039C>T (p.Gln347Ter) c.8580C>T (n.8580C>T) c.1137C>T c.70C>T (p.Gln24Ter) c.8476C>T (p.Gln2826Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371041A= | CA2082816095 | BRCA2 | c.8573A= (p.Gln2858=) c.8204A= (p.Gln2735=) c.1040A= (p.Gln347=) c.8581A= (n.8581A=) c.1138A= c.71A= (p.Gln24=) c.8477A= (p.Gln2826=) | |
| 13 | g.32371041A>C | CA387752820 | BRCA2 | c.8573A>C (p.Gln2858Pro) c.8204A>C (p.Gln2735Pro) c.1040A>C (p.Gln347Pro) c.8581A>C (n.8581A>C) c.1138A>C c.71A>C (p.Gln24Pro) c.8477A>C (p.Gln2826Pro) | ClinVar dbSNP |
| 13 | g.32371041A>G | CA025717 | BRCA2 | c.8573A>G (p.Gln2858Arg) c.8204A>G (p.Gln2735Arg) c.1040A>G (p.Gln347Arg) c.8581A>G (n.8581A>G) c.1138A>G c.71A>G (p.Gln24Arg) c.8477A>G (p.Gln2826Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371041A>T | CA387752821 | BRCA2 | c.8573A>T (p.Gln2858Leu) c.8204A>T (p.Gln2735Leu) c.1040A>T (p.Gln347Leu) c.8581A>T (n.8581A>T) c.1138A>T c.71A>T (p.Gln24Leu) c.8477A>T (p.Gln2826Leu) | dbSNP |
| 13 | g.32371042A= | CA2082816116 | BRCA2 | c.8574A= (p.Gln2858=) c.8205A= (p.Gln2735=) c.1041A= (p.Gln347=) c.8582A= (n.8582A=) c.1139A= c.72A= (p.Gln24=) c.8478A= (p.Gln2826=) | |
| 13 | g.32371042A>C | CA387752822 | BRCA2 | c.8574A>C (p.Gln2858His) c.8205A>C (p.Gln2735His) c.1041A>C (p.Gln347His) c.8582A>C (n.8582A>C) c.1139A>C c.72A>C (p.Gln24His) c.8478A>C (p.Gln2826His) | dbSNP |
| 13 | g.32371042A>G | CA483261527 | BRCA2 | c.8574A>G (p.Gln2858=) c.8205A>G (p.Gln2735=) c.1041A>G (p.Gln347=) c.8582A>G (n.8582A>G) c.1139A>G c.72A>G (p.Gln24=) c.8478A>G (p.Gln2826=) | dbSNP |
| 13 | g.32371042A>T | CA387752823 | BRCA2 | c.8574A>T (p.Gln2858His) c.8205A>T (p.Gln2735His) c.1041A>T (p.Gln347His) c.8582A>T (n.8582A>T) c.1139A>T c.72A>T (p.Gln24His) c.8478A>T (p.Gln2826His) | dbSNP |
| 13 | g.32371042_32371043delinsAC | CA2082816114 | BRCA2 | c.8574_8575delinsAC (p.Gln2858=) c.8205_8206delinsAC (p.Gln2735=) c.1041_1042delinsAC (p.Gln347=) c.8582_8583delinsAC (n.8582_8583delinsAC) c.1139_1140delinsAC c.72_73delinsAC (p.Gln24=) c.8478_8479delinsAC (p.Gln2826=) | |
| 13 | g.32371043del | CA025719 | BRCA2 | c.8575del (p.Gln2859LysfsTer4) c.8206del (p.Gln2736LysfsTer4) c.1042del (p.Gln348LysfsTer4) c.8583del (n.8583del) c.1140del c.73del (p.Gln25LysfsTer4) c.8479del (p.Gln2827LysfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371043C>A | CA387752824 | BRCA2 | c.8575C>A (p.Gln2859Lys) c.8206C>A (p.Gln2736Lys) c.1042C>A (p.Gln348Lys) c.8583C>A (n.8583C>A) c.1140C>A c.73C>A (p.Gln25Lys) c.8479C>A (p.Gln2827Lys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371043C= | CA2082816129 | BRCA2 | c.8575C= (p.Gln2859=) c.8206C= (p.Gln2736=) c.1042C= (p.Gln348=) c.8583C= (n.8583C=) c.1140C= c.73C= (p.Gln25=) c.8479C= (p.Gln2827=) | |
| 13 | g.32371043C>G | CA387752825 | BRCA2 | c.8575C>G (p.Gln2859Glu) c.8206C>G (p.Gln2736Glu) c.1042C>G (p.Gln348Glu) c.8583C>G (n.8583C>G) c.1140C>G c.73C>G (p.Gln25Glu) c.8479C>G (p.Gln2827Glu) | |
| 13 | g.32371043C>T | CA025718 | BRCA2 | c.8575C>T (p.Gln2859Ter) c.8206C>T (p.Gln2736Ter) c.1042C>T (p.Gln348Ter) c.8583C>T (n.8583C>T) c.1140C>T c.73C>T (p.Gln25Ter) c.8479C>T (p.Gln2827Ter) | ClinVar dbSNP |
| 13 | g.32371043_32371045delinsCAA | CA2082816134 | BRCA2 | c.8575_8577delinsCAA (p.Gln2859=) c.8206_8208delinsCAA (p.Gln2736=) c.1042_1044delinsCAA (p.Gln348=) c.8583_8585delinsCAA (n.8583_8585delinsCAA) c.1140_1142delinsCAA c.73_75delinsCAA (p.Gln25=) c.8479_8481delinsCAA (p.Gln2827=) | |
| 13 | g.32371044A>C | CA387752827 | BRCA2 | c.8576A>C (p.Gln2859Pro) c.8207A>C (p.Gln2736Pro) c.1043A>C (p.Gln348Pro) c.8584A>C (n.8584A>C) c.1141A>C c.74A>C (p.Gln25Pro) c.8480A>C (p.Gln2827Pro) | ClinVar dbSNP |