Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338128_32338142del | CA2580087225 | BRCA2 | c.3773_3787del (p.Ile1258_Ser1262del) c.3404_3418del (p.Ile1135_Ser1139del) n.3773_3787del | ClinVar |
13 | g.32338143_32338169del | CA2622600840 | BRCA2 | c.3788_3814del (p.Ser1263_Ser1271del) c.3419_3445del (p.Ser1140_Ser1148del) n.3788_3814del | gnomAD v4 |
13 | g.32338140C>A | CA387778343 | BRCA2 | c.3785C>A (p.Ser1262Ter) c.3416C>A (p.Ser1139Ter) n.3785C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338140C= | CA2082820724 | BRCA2 | c.3785C= (p.Ser1262=) c.3416C= (p.Ser1139=) n.3785C= | |
13 | g.32338140C>G | CA018810 | BRCA2 | c.3785C>G (p.Ser1262Ter) c.3416C>G (p.Ser1139Ter) n.3785C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338140C>T | CA387778346 | BRCA2 | c.3785C>T (p.Ser1262Leu) c.3416C>T (p.Ser1139Leu) n.3785C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338141A= | CA2082820730 | BRCA2 | c.3786A= (p.Ser1262=) c.3417A= (p.Ser1139=) n.3786A= | |
13 | g.32338141A>C | CA483437925 | BRCA2 | c.3786A>C (p.Ser1262=) c.3417A>C (p.Ser1139=) n.3786A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338141A>G | CA483437927 | BRCA2 | c.3786A>G (p.Ser1262=) c.3417A>G (p.Ser1139=) n.3786A>G | ClinVar dbSNP |
13 | g.32338141A>T | CA16614296 | BRCA2 | c.3786A>T (p.Ser1262=) c.3417A>T (p.Ser1139=) n.3786A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338142A>C | CA387778348 | BRCA2 | c.3787A>C (p.Ser1263Arg) c.3418A>C (p.Ser1140Arg) n.3787A>C | |
13 | g.32338142A>G | CA387778350 | BRCA2 | c.3787A>G (p.Ser1263Gly) c.3418A>G (p.Ser1140Gly) n.3787A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338142A>T | CA387778352 | BRCA2 | c.3787A>T (p.Ser1263Cys) c.3418A>T (p.Ser1140Cys) n.3787A>T | dbSNP |
13 | g.32338143G>A | CA387778357 | BRCA2 | c.3788G>A (p.Ser1263Asn) c.3419G>A (p.Ser1140Asn) n.3788G>A | ClinVar dbSNP |
13 | g.32338143G>C | CA387778354 | BRCA2 | c.3788G>C (p.Ser1263Thr) c.3419G>C (p.Ser1140Thr) n.3788G>C | dbSNP |
13 | g.32338143G= | CA2082820737 | BRCA2 | c.3788G= (p.Ser1263=) c.3419G= (p.Ser1140=) n.3788G= | |
13 | g.32338143G>T | CA387778356 | BRCA2 | c.3788G>T (p.Ser1263Ile) c.3419G>T (p.Ser1140Ile) n.3788G>T | dbSNP |
13 | g.32338144T>A | CA387778359 | BRCA2 | c.3789T>A (p.Ser1263Arg) c.3420T>A (p.Ser1140Arg) n.3789T>A | |
13 | g.32338144T>C | CA10579589 | BRCA2 | c.3789T>C (p.Ser1263=) c.3420T>C (p.Ser1140=) n.3789T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338144T>G | CA387778362 | BRCA2 | c.3789T>G (p.Ser1263Arg) c.3420T>G (p.Ser1140Arg) n.3789T>G | |
13 | g.32338144T= | CA2082820767 | BRCA2 | c.3789T= (p.Ser1263=) c.3420T= (p.Ser1140=) n.3789T= | |
13 | g.32338145A>C | CA387778364 | BRCA2 | c.3790A>C (p.Lys1264Gln) c.3421A>C (p.Lys1141Gln) n.3790A>C | |
13 | g.32338145A>G | CA387778366 | BRCA2 | c.3790A>G (p.Lys1264Glu) c.3421A>G (p.Lys1141Glu) n.3790A>G | dbSNP |
13 | g.32338145A>T | CA387778367 | BRCA2 | c.3790A>T (p.Lys1264Ter) c.3421A>T (p.Lys1141Ter) n.3790A>T | dbSNP |
13 | g.32338145_32338155delinsTTATC | CA2580087226 | BRCA2 | c.3790_3800delinsTTATC (p.Lys1264_Asp1267delinsLeuSer) c.3421_3431delinsTTATC (p.Lys1141_Asp1144delinsLeuSer) n.3790_3800delinsTTATC | ClinVar |
13 | g.32338146A>C | CA387778369 | BRCA2 | c.3791A>C (p.Lys1264Thr) c.3422A>C (p.Lys1141Thr) n.3791A>C | |
13 | g.32338146A>G | CA387778370 | BRCA2 | c.3791A>G (p.Lys1264Arg) c.3422A>G (p.Lys1141Arg) n.3791A>G | gnomAD v4 COSMIC COSMIC |
13 | g.32338146A>T | CA387778372 | BRCA2 | c.3791A>T (p.Lys1264Ile) c.3422A>T (p.Lys1141Ile) n.3791A>T | dbSNP |
13 | g.32338147A= | CA2082820770 | BRCA2 | c.3792A= (p.Lys1264=) c.3423A= (p.Lys1141=) n.3792A= | |
13 | g.32338147A>C | CA387778374 | BRCA2 | c.3792A>C (p.Lys1264Asn) c.3423A>C (p.Lys1141Asn) n.3792A>C | |
13 | g.32338147A>G | CA483437933 | BRCA2 | c.3792A>G (p.Lys1264=) c.3423A>G (p.Lys1141=) n.3792A>G | ClinVar dbSNP |
13 | g.32338147A>T | CA387778375 | BRCA2 | c.3792A>T (p.Lys1264Asn) c.3423A>T (p.Lys1141Asn) n.3792A>T | dbSNP |
13 | g.32338148T>A | CA276189 | BRCA2 | c.3793T>A (p.Cys1265Ser) c.3424T>A (p.Cys1142Ser) n.3793T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338148T>C | CA387778379 | BRCA2 | c.3793T>C (p.Cys1265Arg) c.3424T>C (p.Cys1142Arg) n.3793T>C | dbSNP |
13 | g.32338148T>G | CA387778377 | BRCA2 | c.3793T>G (p.Cys1265Gly) c.3424T>G (p.Cys1142Gly) n.3793T>G | |
13 | g.32338148T= | CA2082820775 | BRCA2 | c.3793T= (p.Cys1265=) c.3424T= (p.Cys1142=) n.3793T= | |
13 | g.32338149G>A | CA387778387 | BRCA2 | c.3794G>A (p.Cys1265Tyr) c.3425G>A (p.Cys1142Tyr) n.3794G>A | ClinVar dbSNP |
13 | g.32338149G>C | CA387778388 | BRCA2 | c.3794G>C (p.Cys1265Ser) c.3425G>C (p.Cys1142Ser) n.3794G>C | ClinVar dbSNP |
13 | g.32338149G= | CA2082820789 | BRCA2 | c.3794G= (p.Cys1265=) c.3425G= (p.Cys1142=) n.3794G= | |
13 | g.32338149G>T | CA018818 | BRCA2 | c.3794G>T (p.Cys1265Phe) c.3425G>T (p.Cys1142Phe) n.3794G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338150T>A | CA387778391 | BRCA2 | c.3795T>A (p.Cys1265Ter) c.3426T>A (p.Cys1142Ter) n.3795T>A | ClinVar dbSNP |
13 | g.32338150T>C | CA483437937 | BRCA2 | c.3795T>C (p.Cys1265=) c.3426T>C (p.Cys1142=) n.3795T>C | gnomAD v4 |
13 | g.32338150T>G | CA387778392 | BRCA2 | c.3795T>G (p.Cys1265Trp) c.3426T>G (p.Cys1142Trp) n.3795T>G | |
13 | g.32338151C>A | CA387778393 | BRCA2 | c.3796C>A (p.His1266Asn) c.3427C>A (p.His1143Asn) n.3796C>A | dbSNP gnomAD v4 |
13 | g.32338151C= | CA2082820795 | BRCA2 | c.3796C= (p.His1266=) c.3427C= (p.His1143=) n.3796C= | |
13 | g.32338151C>G | CA387778394 | BRCA2 | c.3796C>G (p.His1266Asp) c.3427C>G (p.His1143Asp) n.3796C>G | dbSNP |
13 | g.32338151C>T | CA387778395 | BRCA2 | c.3796C>T (p.His1266Tyr) c.3427C>T (p.His1143Tyr) n.3796C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338152A= | CA2082820801 | BRCA2 | c.3797A= (p.His1266=) c.3428A= (p.His1143=) n.3797A= | |
13 | g.32338152A>C | CA387778397 | BRCA2 | c.3797A>C (p.His1266Pro) c.3428A>C (p.His1143Pro) n.3797A>C | |
13 | g.32338152A>G | CA387778398 | BRCA2 | c.3797A>G (p.His1266Arg) c.3428A>G (p.His1143Arg) n.3797A>G | ClinVar dbSNP gnomAD v4 |