| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43074333_43082577del | CA2581463402 | BRCA1 | c.4186_4672del c.4186_4675del c.4060_4549del c.4183-3_4669del c.4108_4597del c.874_1363del c.736_1225del c.3298_3787del c.4063_4552del c.4186_4741del c.4045_4534del c.754-3_1237del c.796_1282del c.4186_4738del c.507_1062del c.760_1249del c.*3969_*4458del c.877_1363del c.499_988del c.5-18624_5-10380del (n.5-18624_5-10380del) c.-43-8054_148del c.-98-32385_-98-24141del (n.-98-32385_-98-24141del) n.4322_4811del n.4363_4852del | |
| 17 | g.43075650_43084252dup | CA2580612642 | BRCA1 | c.4186-1676_4481+839dup c.4186-1676_4484+839dup c.4060-1676_4358+839dup c.4183-1679_4478+839dup c.4108-1676_4406+839dup c.874-1676_1172+839dup c.736-1676_1034+839dup c.3298-1676_3596+839dup c.4063-1676_4361+839dup c.4186-1676_4550+839dup c.4045-1676_4343+839dup c.754-1679_1046+839dup c.796-1676_1091+839dup c.4186-1676_4547+839dup c.507-1676_871+839dup c.760-1676_1058+839dup c.*3969-1676_*4267+839dup c.877-1676_1172+839dup c.499-1676_797+839dup c.5-20300_5-11698dup (n.5-20300_5-11698dup) c.-43-9730_-43-1128dup (n.-43-9730_-43-1128dup) c.-98-34061_-98-25459dup (n.-98-34061_-98-25459dup) n.4322-1676_4620+839dup n.4363-1676_4661+839dup | |
| 17 | g.43078282_43084361dup | CA16609627 | BRCA1 | c.4186-1783_4358-1668dup c.4186-1783_4358-1665dup c.4060-1783_4232-1665dup c.4183-1786_4352-1665dup c.4108-1783_4280-1665dup c.874-1783_1046-1665dup c.736-1783_908-1665dup c.3298-1783_3470-1665dup c.4063-1783_4235-1665dup c.4186-1783_4423+1055dup c.4045-1783_4217-1665dup c.754-1786_923-1668dup c.796-1783_968-1668dup c.507-1783_744+1055dup c.760-1783_932-1665dup c.*3969-1783_*4141-1665dup c.480-1783_652-1668dup c.877-1783_1049-1668dup c.499-1783_671-1665dup c.502-1783_674-1665dup c.5-20407_5-14328dup (n.5-20407_5-14328dup) c.-43-9837_-43-3758dup (n.-43-9837_-43-3758dup) c.-98-34168_-98-28089dup (n.-98-34168_-98-28089dup) n.4322-1783_4494-1665dup n.4363-1783_4535-1665dup | |
| 17 | g.43078305_43084385dup | CA10602589 | BRCA1 | c.4186-1787_4358-1671dup c.4186-1787_4358-1668dup c.4060-1787_4232-1668dup c.4183-1790_4352-1668dup c.4108-1787_4280-1668dup c.874-1787_1046-1668dup c.736-1787_908-1668dup c.3298-1787_3470-1668dup c.4063-1787_4235-1668dup c.4186-1787_4423+1052dup c.4045-1787_4217-1668dup c.754-1790_923-1671dup c.796-1787_968-1671dup c.507-1787_744+1052dup c.760-1787_932-1668dup c.*3969-1787_*4141-1668dup c.480-1787_652-1671dup c.877-1787_1049-1671dup c.499-1787_671-1668dup c.502-1787_674-1668dup c.5-20411_5-14331dup (n.5-20411_5-14331dup) c.-43-9841_-43-3761dup (n.-43-9841_-43-3761dup) c.-98-34172_-98-28092dup (n.-98-34172_-98-28092dup) n.4322-1787_4494-1668dup n.4363-1787_4535-1668dup | |
| 17 | g.43079254_43082669dup | CA2581463413 | BRCA1 | c.4186-93_4358-2642dup c.4186-93_4358-2639dup c.4060-93_4232-2639dup c.4183-96_4352-2639dup c.4108-93_4280-2639dup c.874-93_1046-2639dup c.736-93_908-2639dup c.3298-93_3470-2639dup c.4063-93_4235-2639dup c.4186-93_4423+81dup c.4045-93_4217-2639dup c.754-96_923-2642dup c.796-93_968-2642dup c.507-93_744+81dup c.760-93_932-2639dup c.*3969-93_*4141-2639dup c.480-93_652-2642dup c.877-93_1049-2642dup c.499-93_671-2639dup c.502-93_674-2639dup c.5-18717_5-15302dup (n.5-18717_5-15302dup) c.-43-8147_-43-4732dup (n.-43-8147_-43-4732dup) c.-98-32478_-98-29063dup (n.-98-32478_-98-29063dup) n.79+14_252-2642dup n.4322-93_4494-2639dup n.4363-93_4535-2639dup | |
| 17 | g.43080387_43084221del | CA10602590 | BRCA1 | c.4186-1643_4357+2020del c.4060-1643_4231+2020del c.4183-1646_4351+2020del c.4108-1643_4279+2020del c.874-1643_1045+2020del c.736-1643_907+2020del c.3298-1643_3469+2020del c.4063-1643_4234+2020del c.4186-1643_4358-985del c.4045-1643_4216+2020del c.754-1646_922+2020del c.796-1643_967+2020del c.507-1643_679-985del c.760-1643_931+2020del c.*3969-1643_*4140+2020del c.480-1643_651+2020del c.877-1643_1048+2020del c.499-1643_670+2020del c.502-1643_673+2020del c.5-20267_5-16433del (n.5-20267_5-16433del) c.-43-9697_-43-5863del (n.-43-9697_-43-5863del) c.-98-34028_-98-30194del (n.-98-34028_-98-30194del) n.4322-1643_4493+2020del n.4363-1643_4534+2020del | ClinVar |
| 17 | g.43080468_43083426del | CA10602591 | BRCA1 | c.4186-832_4357+1955del c.4060-832_4231+1955del c.4183-835_4351+1955del c.4108-832_4279+1955del c.874-832_1045+1955del c.736-832_907+1955del c.3298-832_3469+1955del c.4063-832_4234+1955del c.4186-832_4358-1050del c.4045-832_4216+1955del c.754-835_922+1955del c.796-832_967+1955del c.507-832_679-1050del c.760-832_931+1955del c.*3969-832_*4140+1955del c.480-832_651+1955del c.877-832_1048+1955del c.499-832_670+1955del c.502-832_673+1955del c.5-19456_5-16498del (n.5-19456_5-16498del) c.-43-8886_-43-5928del (n.-43-8886_-43-5928del) c.-98-33217_-98-30259del (n.-98-33217_-98-30259del) n.4322-832_4493+1955del n.4363-832_4534+1955del | ClinVar |
| 17 | g.43082274_43082543dup | CA273822 | BRCA1 | c.4218_4357+130dup c.4092_4231+130dup c.4212_4351+130dup c.4140_4279+130dup c.906_1045+130dup c.768_907+130dup c.3330_3469+130dup c.4095_4234+130dup c.4077_4216+130dup c.783_922+130dup c.828_967+130dup c.539_678+130dup c.792_931+130dup c.*4001_*4140+130dup c.512_651+130dup c.909_1048+130dup c.531_670+130dup c.534_673+130dup c.5-18592_5-18323dup (n.5-18592_5-18323dup) c.-43-8022_-43-7753dup (n.-43-8022_-43-7753dup) c.-98-32353_-98-32084dup (n.-98-32353_-98-32084dup) n.112_251+130dup n.4354_4493+130dup n.4395_4534+130dup | |
| 17 | g.43082407_43082578dup | CA658655494 | BRCA1 | c.4186_4357dup c.4060_4231dup c.4183-3_4351dup c.4108_4279dup c.874_1045dup c.736_907dup c.3298_3469dup c.4063_4234dup c.4045_4216dup c.754-3_922dup c.796_967dup c.507_678dup c.760_931dup c.*3969_*4140dup c.480_651dup c.877_1048dup c.499_670dup c.502_673dup c.5-18624_5-18453dup (n.5-18624_5-18453dup) c.-43-8054_-43-7883dup (n.-43-8054_-43-7883dup) c.-98-32385_-98-32214dup (n.-98-32385_-98-32214dup) n.80_251dup n.4322_4493dup n.4363_4534dup | ClinVar |
| 17 | g.43082450_43082451delinsAG | CA2260777984 | BRCA1 | c.4310_4311delinsCT (p.Ser1437=) c.4184_4185delinsCT (p.Ser1395=) c.4304_4305delinsCT (p.Ser1435=) c.4232_4233delinsCT (p.Ser1411=) c.998_999delinsCT (p.Ser333=) c.860_861delinsCT (p.Ser287=) c.3422_3423delinsCT (p.Ser1141=) c.4187_4188delinsCT (p.Ser1396=) c.4169_4170delinsCT (p.Ser1390=) c.875_876delinsCT (p.Ser292=) c.920_921delinsCT (p.Ser307=) c.631_632delinsCT c.884_885delinsCT (p.Ser295=) c.*4093_*4094delinsCT (n.*4093_*4094delinsCT) c.604_605delinsCT c.1001_1002delinsCT (p.Ser334=) c.623_624delinsCT (p.Ser208=) c.626_627delinsCT (p.Ser209=) c.5-18500_5-18499delinsCT (n.5-18500_5-18499delinsCT) c.-43-7930_-43-7929delinsCT (n.-43-7930_-43-7929delinsCT) c.-98-32261_-98-32260delinsCT (n.-98-32261_-98-32260delinsCT) n.204_205delinsCT n.4446_4447delinsCT n.4487_4488delinsCT | |
| 17 | g.43082451del | CA645373146 | BRCA1 | c.4310del (p.Ser1437LeufsTer18) c.4310del (p.Ser1437LeufsTer19) c.4184del (p.Ser1395LeufsTer19) c.4304del (p.Ser1435LeufsTer19) c.4232del (p.Ser1411LeufsTer19) c.998del (p.Ser333LeufsTer19) c.860del (p.Ser287LeufsTer19) c.3422del (p.Ser1141LeufsTer19) c.4187del (p.Ser1396LeufsTer19) c.4310del (p.Ser1437LeufsTer?) c.4169del (p.Ser1390LeufsTer19) c.875del (p.Ser292LeufsTer18) c.920del (p.Ser307LeufsTer18) c.631del c.884del (p.Ser295LeufsTer19) c.*4093del (n.*4093del) c.604del c.1001del (p.Ser334LeufsTer18) c.623del (p.Ser208LeufsTer19) c.626del (p.Ser209LeufsTer19) c.5-18500del (n.5-18500del) c.-43-7930del (n.-43-7930del) c.-98-32261del (n.-98-32261del) n.204del n.4446del n.4487del | ClinVar dbSNP |
| 17 | g.43082451G>A | CA10593099 | BRCA1 | c.4310C>T (p.Ser1437Phe) c.4184C>T (p.Ser1395Phe) c.4304C>T (p.Ser1435Phe) c.4232C>T (p.Ser1411Phe) c.998C>T (p.Ser333Phe) c.860C>T (p.Ser287Phe) c.3422C>T (p.Ser1141Phe) c.4187C>T (p.Ser1396Phe) c.4169C>T (p.Ser1390Phe) c.875C>T (p.Ser292Phe) c.920C>T (p.Ser307Phe) c.631C>T c.884C>T (p.Ser295Phe) c.*4093C>T (n.*4093C>T) c.604C>T c.1001C>T (p.Ser334Phe) c.623C>T (p.Ser208Phe) c.626C>T (p.Ser209Phe) c.5-18500C>T (n.5-18500C>T) c.-43-7930C>T (n.-43-7930C>T) c.-98-32261C>T (n.-98-32261C>T) n.204C>T n.4446C>T n.4487C>T | ClinVar dbSNP |
| 17 | g.43082451G>C | CA10593100 | BRCA1 | c.4310C>G (p.Ser1437Cys) c.4184C>G (p.Ser1395Cys) c.4304C>G (p.Ser1435Cys) c.4232C>G (p.Ser1411Cys) c.998C>G (p.Ser333Cys) c.860C>G (p.Ser287Cys) c.3422C>G (p.Ser1141Cys) c.4187C>G (p.Ser1396Cys) c.4169C>G (p.Ser1390Cys) c.875C>G (p.Ser292Cys) c.920C>G (p.Ser307Cys) c.631C>G c.884C>G (p.Ser295Cys) c.*4093C>G (n.*4093C>G) c.604C>G c.1001C>G (p.Ser334Cys) c.623C>G (p.Ser208Cys) c.626C>G (p.Ser209Cys) c.5-18500C>G (n.5-18500C>G) c.-43-7930C>G (n.-43-7930C>G) c.-98-32261C>G (n.-98-32261C>G) n.204C>G n.4446C>G n.4487C>G | dbSNP |
| 17 | g.43082451G= | CA2260777987 | BRCA1 | c.4310C= (p.Ser1437=) c.4184C= (p.Ser1395=) c.4304C= (p.Ser1435=) c.4232C= (p.Ser1411=) c.998C= (p.Ser333=) c.860C= (p.Ser287=) c.3422C= (p.Ser1141=) c.4187C= (p.Ser1396=) c.4169C= (p.Ser1390=) c.875C= (p.Ser292=) c.920C= (p.Ser307=) c.631C= c.884C= (p.Ser295=) c.*4093C= (n.*4093C=) c.604C= c.1001C= (p.Ser334=) c.623C= (p.Ser208=) c.626C= (p.Ser209=) c.5-18500C= (n.5-18500C=) c.-43-7930C= (n.-43-7930C=) c.-98-32261C= (n.-98-32261C=) n.204C= n.4446C= n.4487C= | |
| 17 | g.43082451G>T | CA10593101 | BRCA1 | c.4310C>A (p.Ser1437Tyr) c.4184C>A (p.Ser1395Tyr) c.4304C>A (p.Ser1435Tyr) c.4232C>A (p.Ser1411Tyr) c.998C>A (p.Ser333Tyr) c.860C>A (p.Ser287Tyr) c.3422C>A (p.Ser1141Tyr) c.4187C>A (p.Ser1396Tyr) c.4169C>A (p.Ser1390Tyr) c.875C>A (p.Ser292Tyr) c.920C>A (p.Ser307Tyr) c.631C>A c.884C>A (p.Ser295Tyr) c.*4093C>A (n.*4093C>A) c.604C>A c.1001C>A (p.Ser334Tyr) c.623C>A (p.Ser208Tyr) c.626C>A (p.Ser209Tyr) c.5-18500C>A (n.5-18500C>A) c.-43-7930C>A (n.-43-7930C>A) c.-98-32261C>A (n.-98-32261C>A) n.204C>A n.4446C>A n.4487C>A | |
| 17 | g.43082451_43082452delinsGA | CA2260777986 | BRCA1 | c.4309_4310delinsTC (p.Ser1437=) c.4183_4184delinsTC (p.Ser1395=) c.4303_4304delinsTC (p.Ser1435=) c.4231_4232delinsTC (p.Ser1411=) c.997_998delinsTC (p.Ser333=) c.859_860delinsTC (p.Ser287=) c.3421_3422delinsTC (p.Ser1141=) c.4186_4187delinsTC (p.Ser1396=) c.4168_4169delinsTC (p.Ser1390=) c.874_875delinsTC (p.Ser292=) c.919_920delinsTC (p.Ser307=) c.630_631delinsTC c.883_884delinsTC (p.Ser295=) c.*4092_*4093delinsTC (n.*4092_*4093delinsTC) c.603_604delinsTC c.1000_1001delinsTC (p.Ser334=) c.622_623delinsTC (p.Ser208=) c.625_626delinsTC (p.Ser209=) c.5-18501_5-18500delinsTC (n.5-18501_5-18500delinsTC) c.-43-7931_-43-7930delinsTC (n.-43-7931_-43-7930delinsTC) c.-98-32262_-98-32261delinsTC (n.-98-32262_-98-32261delinsTC) n.203_204delinsTC n.4445_4446delinsTC n.4486_4487delinsTC | |
| 17 | g.43082452A>C | CA10593102 | BRCA1 | c.4309T>G (p.Ser1437Ala) c.4183T>G (p.Ser1395Ala) c.4303T>G (p.Ser1435Ala) c.4231T>G (p.Ser1411Ala) c.997T>G (p.Ser333Ala) c.859T>G (p.Ser287Ala) c.3421T>G (p.Ser1141Ala) c.4186T>G (p.Ser1396Ala) c.4168T>G (p.Ser1390Ala) c.874T>G (p.Ser292Ala) c.919T>G (p.Ser307Ala) c.630T>G c.883T>G (p.Ser295Ala) c.*4092T>G (n.*4092T>G) c.603T>G c.1000T>G (p.Ser334Ala) c.622T>G (p.Ser208Ala) c.625T>G (p.Ser209Ala) c.5-18501T>G (n.5-18501T>G) c.-43-7931T>G (n.-43-7931T>G) c.-98-32262T>G (n.-98-32262T>G) n.203T>G n.4445T>G n.4486T>G | |
| 17 | g.43082452A>G | CA10593103 | BRCA1 | c.4309T>C (p.Ser1437Pro) c.4183T>C (p.Ser1395Pro) c.4303T>C (p.Ser1435Pro) c.4231T>C (p.Ser1411Pro) c.997T>C (p.Ser333Pro) c.859T>C (p.Ser287Pro) c.3421T>C (p.Ser1141Pro) c.4186T>C (p.Ser1396Pro) c.4168T>C (p.Ser1390Pro) c.874T>C (p.Ser292Pro) c.919T>C (p.Ser307Pro) c.630T>C c.883T>C (p.Ser295Pro) c.*4092T>C (n.*4092T>C) c.603T>C c.1000T>C (p.Ser334Pro) c.622T>C (p.Ser208Pro) c.625T>C (p.Ser209Pro) c.5-18501T>C (n.5-18501T>C) c.-43-7931T>C (n.-43-7931T>C) c.-98-32262T>C (n.-98-32262T>C) n.203T>C n.4445T>C n.4486T>C | |
| 17 | g.43082452A>T | CA10593104 | BRCA1 | c.4309T>A (p.Ser1437Thr) c.4183T>A (p.Ser1395Thr) c.4303T>A (p.Ser1435Thr) c.4231T>A (p.Ser1411Thr) c.997T>A (p.Ser333Thr) c.859T>A (p.Ser287Thr) c.3421T>A (p.Ser1141Thr) c.4186T>A (p.Ser1396Thr) c.4168T>A (p.Ser1390Thr) c.874T>A (p.Ser292Thr) c.919T>A (p.Ser307Thr) c.630T>A c.883T>A (p.Ser295Thr) c.*4092T>A (n.*4092T>A) c.603T>A c.1000T>A (p.Ser334Thr) c.622T>A (p.Ser208Thr) c.625T>A (p.Ser209Thr) c.5-18501T>A (n.5-18501T>A) c.-43-7931T>A (n.-43-7931T>A) c.-98-32262T>A (n.-98-32262T>A) n.203T>A n.4445T>A n.4486T>A | dbSNP |
| 17 | g.43082452_43082453del | CA2573154021 | BRCA1 | c.4308_4309del (p.Ser1437CysfsTer3) c.4182_4183del (p.Ser1395CysfsTer3) c.4302_4303del (p.Ser1435CysfsTer3) c.4230_4231del (p.Ser1411CysfsTer3) c.996_997del (p.Ser333CysfsTer3) c.858_859del (p.Ser287CysfsTer3) c.3420_3421del (p.Ser1141CysfsTer3) c.4185_4186del (p.Ser1396CysfsTer3) c.4167_4168del (p.Ser1390CysfsTer3) c.873_874del (p.Ser292CysfsTer3) c.918_919del (p.Ser307CysfsTer3) c.629_630del c.882_883del (p.Ser295CysfsTer3) c.*4091_*4092del (n.*4091_*4092del) c.602_603del c.999_1000del (p.Ser334CysfsTer3) c.621_622del (p.Ser208CysfsTer3) c.624_625del (p.Ser209CysfsTer3) c.5-18502_5-18501del (n.5-18502_5-18501del) c.-43-7932_-43-7931del (n.-43-7932_-43-7931del) c.-98-32263_-98-32262del (n.-98-32263_-98-32262del) n.202_203del n.4444_4445del n.4485_4486del | ClinVar dbSNP |
| 17 | g.43082453dup | CA2580093802 | BRCA1 | c.4309dup (p.Ser1437PhefsTer4) c.4183dup (p.Ser1395PhefsTer4) c.4303dup (p.Ser1435PhefsTer4) c.4231dup (p.Ser1411PhefsTer4) c.997dup (p.Ser333PhefsTer4) c.859dup (p.Ser287PhefsTer4) c.3421dup (p.Ser1141PhefsTer4) c.4186dup (p.Ser1396PhefsTer4) c.4168dup (p.Ser1390PhefsTer4) c.874dup (p.Ser292PhefsTer4) c.919dup (p.Ser307PhefsTer4) c.630dup c.883dup (p.Ser295PhefsTer4) c.*4092dup (n.*4092dup) c.603dup c.1000dup (p.Ser334PhefsTer4) c.622dup (p.Ser208PhefsTer4) c.625dup (p.Ser209PhefsTer4) c.5-18501dup (n.5-18501dup) c.-43-7931dup (n.-43-7931dup) c.-98-32262dup (n.-98-32262dup) n.203dup n.4445dup n.4486dup | ClinVar |
| 17 | g.43082453del | CA10589670 | BRCA1 | c.4309del (p.Ser1437LeufsTer18) c.4309del (p.Ser1437LeufsTer19) c.4183del (p.Ser1395LeufsTer19) c.4303del (p.Ser1435LeufsTer19) c.4231del (p.Ser1411LeufsTer19) c.997del (p.Ser333LeufsTer19) c.859del (p.Ser287LeufsTer19) c.3421del (p.Ser1141LeufsTer19) c.4186del (p.Ser1396LeufsTer19) c.4309del (p.Ser1437LeufsTer?) c.4168del (p.Ser1390LeufsTer19) c.874del (p.Ser292LeufsTer18) c.919del (p.Ser307LeufsTer18) c.630del c.883del (p.Ser295LeufsTer19) c.*4092del (n.*4092del) c.603del c.1000del (p.Ser334LeufsTer18) c.622del (p.Ser208LeufsTer19) c.625del (p.Ser209LeufsTer19) c.5-18501del (n.5-18501del) c.-43-7931del (n.-43-7931del) c.-98-32262del (n.-98-32262del) n.203del n.4445del n.4486del | ClinVar dbSNP |
| 17 | g.43082452_43082454delinsAAG | CA2260777988 | BRCA1 | c.4307_4309delinsCTT (p.Ser1436=) c.4181_4183delinsCTT (p.Ser1394=) c.4301_4303delinsCTT (p.Ser1434=) c.4229_4231delinsCTT (p.Ser1410=) c.995_997delinsCTT (p.Ser332=) c.857_859delinsCTT (p.Ser286=) c.3419_3421delinsCTT (p.Ser1140=) c.4184_4186delinsCTT (p.Ser1395=) c.4166_4168delinsCTT (p.Ser1389=) c.872_874delinsCTT (p.Ser291=) c.917_919delinsCTT (p.Ser306=) c.628_630delinsCTT c.881_883delinsCTT (p.Ser294=) c.*4090_*4092delinsCTT (n.*4090_*4092delinsCTT) c.601_603delinsCTT c.998_1000delinsCTT (p.Ser333=) c.620_622delinsCTT (p.Ser207=) c.623_625delinsCTT (p.Ser208=) c.5-18503_5-18501delinsCTT (n.5-18503_5-18501delinsCTT) c.-43-7933_-43-7931delinsCTT (n.-43-7933_-43-7931delinsCTT) c.-98-32264_-98-32262delinsCTT (n.-98-32264_-98-32262delinsCTT) n.201_203delinsCTT n.4443_4445delinsCTT n.4484_4486delinsCTT | |
| 17 | g.43082453A= | CA2260777989 | BRCA1 | c.4308T= (p.Ser1436=) c.4182T= (p.Ser1394=) c.4302T= (p.Ser1434=) c.4230T= (p.Ser1410=) c.996T= (p.Ser332=) c.858T= (p.Ser286=) c.3420T= (p.Ser1140=) c.4185T= (p.Ser1395=) c.4167T= (p.Ser1389=) c.873T= (p.Ser291=) c.918T= (p.Ser306=) c.629T= c.882T= (p.Ser294=) c.*4091T= (n.*4091T=) c.602T= c.999T= (p.Ser333=) c.621T= (p.Ser207=) c.624T= (p.Ser208=) c.5-18502T= (n.5-18502T=) c.-43-7932T= (n.-43-7932T=) c.-98-32263T= (n.-98-32263T=) n.202T= n.4444T= n.4485T= | |
| 17 | g.43082453A>C | CA500148373 | BRCA1 | c.4308T>G (p.Ser1436=) c.4182T>G (p.Ser1394=) c.4302T>G (p.Ser1434=) c.4230T>G (p.Ser1410=) c.996T>G (p.Ser332=) c.858T>G (p.Ser286=) c.3420T>G (p.Ser1140=) c.4185T>G (p.Ser1395=) c.4167T>G (p.Ser1389=) c.873T>G (p.Ser291=) c.918T>G (p.Ser306=) c.629T>G c.882T>G (p.Ser294=) c.*4091T>G (n.*4091T>G) c.602T>G c.999T>G (p.Ser333=) c.621T>G (p.Ser207=) c.624T>G (p.Ser208=) c.5-18502T>G (n.5-18502T>G) c.-43-7932T>G (n.-43-7932T>G) c.-98-32263T>G (n.-98-32263T>G) n.202T>G n.4444T>G n.4485T>G | ClinVar dbSNP |
| 17 | g.43082453A>G | CA002763 | BRCA1 | c.4308T>C (p.Ser1436=) c.4182T>C (p.Ser1394=) c.4302T>C (p.Ser1434=) c.4230T>C (p.Ser1410=) c.996T>C (p.Ser332=) c.858T>C (p.Ser286=) c.3420T>C (p.Ser1140=) c.4185T>C (p.Ser1395=) c.4167T>C (p.Ser1389=) c.873T>C (p.Ser291=) c.918T>C (p.Ser306=) c.629T>C c.882T>C (p.Ser294=) c.*4091T>C (n.*4091T>C) c.602T>C c.999T>C (p.Ser333=) c.621T>C (p.Ser207=) c.624T>C (p.Ser208=) c.5-18502T>C (n.5-18502T>C) c.-43-7932T>C (n.-43-7932T>C) c.-98-32263T>C (n.-98-32263T>C) n.202T>C n.4444T>C n.4485T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43082453A>T | CA500148374 | BRCA1 | c.4308T>A (p.Ser1436=) c.4182T>A (p.Ser1394=) c.4302T>A (p.Ser1434=) c.4230T>A (p.Ser1410=) c.996T>A (p.Ser332=) c.858T>A (p.Ser286=) c.3420T>A (p.Ser1140=) c.4185T>A (p.Ser1395=) c.4167T>A (p.Ser1389=) c.873T>A (p.Ser291=) c.918T>A (p.Ser306=) c.629T>A c.882T>A (p.Ser294=) c.*4091T>A (n.*4091T>A) c.602T>A c.999T>A (p.Ser333=) c.621T>A (p.Ser207=) c.624T>A (p.Ser208=) c.5-18502T>A (n.5-18502T>A) c.-43-7932T>A (n.-43-7932T>A) c.-98-32263T>A (n.-98-32263T>A) n.202T>A n.4444T>A n.4485T>A | ClinVar dbSNP |
| 17 | g.43082455_43082456del | CA002762 | BRCA1 | c.4307_4308del (p.Ser1436PhefsTer4) c.4181_4182del (p.Ser1394PhefsTer4) c.4301_4302del (p.Ser1434PhefsTer4) c.4229_4230del (p.Ser1410PhefsTer4) c.995_996del (p.Ser332PhefsTer4) c.857_858del (p.Ser286PhefsTer4) c.3419_3420del (p.Ser1140PhefsTer4) c.4184_4185del (p.Ser1395PhefsTer4) c.4166_4167del (p.Ser1389PhefsTer4) c.872_873del (p.Ser291PhefsTer4) c.917_918del (p.Ser306PhefsTer4) c.628_629del c.881_882del (p.Ser294PhefsTer4) c.*4090_*4091del (n.*4090_*4091del) c.601_602del c.998_999del (p.Ser333PhefsTer4) c.620_621del (p.Ser207PhefsTer4) c.623_624del (p.Ser208PhefsTer4) c.5-18503_5-18502del (n.5-18503_5-18502del) c.-43-7933_-43-7932del (n.-43-7933_-43-7932del) c.-98-32264_-98-32263del (n.-98-32264_-98-32263del) n.201_202del n.4443_4444del n.4484_4485del | ClinVar dbSNP |
| 17 | g.43082454G>A | CA059893 | BRCA1 | c.4307C>T (p.Ser1436Phe) c.4181C>T (p.Ser1394Phe) c.4301C>T (p.Ser1434Phe) c.4229C>T (p.Ser1410Phe) c.995C>T (p.Ser332Phe) c.857C>T (p.Ser286Phe) c.3419C>T (p.Ser1140Phe) c.4184C>T (p.Ser1395Phe) c.4166C>T (p.Ser1389Phe) c.872C>T (p.Ser291Phe) c.917C>T (p.Ser306Phe) c.628C>T c.881C>T (p.Ser294Phe) c.*4090C>T (n.*4090C>T) c.601C>T c.998C>T (p.Ser333Phe) c.620C>T (p.Ser207Phe) c.623C>T (p.Ser208Phe) c.5-18503C>T (n.5-18503C>T) c.-43-7933C>T (n.-43-7933C>T) c.-98-32264C>T (n.-98-32264C>T) n.201C>T n.4443C>T n.4484C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43082454G>C | CA10593105 | BRCA1 | c.4307C>G (p.Ser1436Cys) c.4181C>G (p.Ser1394Cys) c.4301C>G (p.Ser1434Cys) c.4229C>G (p.Ser1410Cys) c.995C>G (p.Ser332Cys) c.857C>G (p.Ser286Cys) c.3419C>G (p.Ser1140Cys) c.4184C>G (p.Ser1395Cys) c.4166C>G (p.Ser1389Cys) c.872C>G (p.Ser291Cys) c.917C>G (p.Ser306Cys) c.628C>G c.881C>G (p.Ser294Cys) c.*4090C>G (n.*4090C>G) c.601C>G c.998C>G (p.Ser333Cys) c.620C>G (p.Ser207Cys) c.623C>G (p.Ser208Cys) c.5-18503C>G (n.5-18503C>G) c.-43-7933C>G (n.-43-7933C>G) c.-98-32264C>G (n.-98-32264C>G) n.201C>G n.4443C>G n.4484C>G | dbSNP |
| 17 | g.43082454G= | CA2260777990 | BRCA1 | c.4307C= (p.Ser1436=) c.4181C= (p.Ser1394=) c.4301C= (p.Ser1434=) c.4229C= (p.Ser1410=) c.995C= (p.Ser332=) c.857C= (p.Ser286=) c.3419C= (p.Ser1140=) c.4184C= (p.Ser1395=) c.4166C= (p.Ser1389=) c.872C= (p.Ser291=) c.917C= (p.Ser306=) c.628C= c.881C= (p.Ser294=) c.*4090C= (n.*4090C=) c.601C= c.998C= (p.Ser333=) c.620C= (p.Ser207=) c.623C= (p.Ser208=) c.5-18503C= (n.5-18503C=) c.-43-7933C= (n.-43-7933C=) c.-98-32264C= (n.-98-32264C=) n.201C= n.4443C= n.4484C= | |
| 17 | g.43082454G>T | CA10593106 | BRCA1 | c.4307C>A (p.Ser1436Tyr) c.4181C>A (p.Ser1394Tyr) c.4301C>A (p.Ser1434Tyr) c.4229C>A (p.Ser1410Tyr) c.995C>A (p.Ser332Tyr) c.857C>A (p.Ser286Tyr) c.3419C>A (p.Ser1140Tyr) c.4184C>A (p.Ser1395Tyr) c.4166C>A (p.Ser1389Tyr) c.872C>A (p.Ser291Tyr) c.917C>A (p.Ser306Tyr) c.628C>A c.881C>A (p.Ser294Tyr) c.*4090C>A (n.*4090C>A) c.601C>A c.998C>A (p.Ser333Tyr) c.620C>A (p.Ser207Tyr) c.623C>A (p.Ser208Tyr) c.5-18503C>A (n.5-18503C>A) c.-43-7933C>A (n.-43-7933C>A) c.-98-32264C>A (n.-98-32264C>A) n.201C>A n.4443C>A n.4484C>A | dbSNP |
| 17 | g.43082455A>C | CA10593107 | BRCA1 | c.4306T>G (p.Ser1436Ala) c.4180T>G (p.Ser1394Ala) c.4300T>G (p.Ser1434Ala) c.4228T>G (p.Ser1410Ala) c.994T>G (p.Ser332Ala) c.856T>G (p.Ser286Ala) c.3418T>G (p.Ser1140Ala) c.4183T>G (p.Ser1395Ala) c.4165T>G (p.Ser1389Ala) c.871T>G (p.Ser291Ala) c.916T>G (p.Ser306Ala) c.627T>G c.880T>G (p.Ser294Ala) c.*4089T>G (n.*4089T>G) c.600T>G c.997T>G (p.Ser333Ala) c.619T>G (p.Ser207Ala) c.622T>G (p.Ser208Ala) c.5-18504T>G (n.5-18504T>G) c.-43-7934T>G (n.-43-7934T>G) c.-98-32265T>G (n.-98-32265T>G) n.200T>G n.4442T>G n.4483T>G | |
| 17 | g.43082455A>G | CA10593108 | BRCA1 | c.4306T>C (p.Ser1436Pro) c.4180T>C (p.Ser1394Pro) c.4300T>C (p.Ser1434Pro) c.4228T>C (p.Ser1410Pro) c.994T>C (p.Ser332Pro) c.856T>C (p.Ser286Pro) c.3418T>C (p.Ser1140Pro) c.4183T>C (p.Ser1395Pro) c.4165T>C (p.Ser1389Pro) c.871T>C (p.Ser291Pro) c.916T>C (p.Ser306Pro) c.627T>C c.880T>C (p.Ser294Pro) c.*4089T>C (n.*4089T>C) c.600T>C c.997T>C (p.Ser333Pro) c.619T>C (p.Ser207Pro) c.622T>C (p.Ser208Pro) c.5-18504T>C (n.5-18504T>C) c.-43-7934T>C (n.-43-7934T>C) c.-98-32265T>C (n.-98-32265T>C) n.200T>C n.4442T>C n.4483T>C | gnomAD v3 gnomAD v4 |
| 17 | g.43082455A>T | CA10593109 | BRCA1 | c.4306T>A (p.Ser1436Thr) c.4180T>A (p.Ser1394Thr) c.4300T>A (p.Ser1434Thr) c.4228T>A (p.Ser1410Thr) c.994T>A (p.Ser332Thr) c.856T>A (p.Ser286Thr) c.3418T>A (p.Ser1140Thr) c.4183T>A (p.Ser1395Thr) c.4165T>A (p.Ser1389Thr) c.871T>A (p.Ser291Thr) c.916T>A (p.Ser306Thr) c.627T>A c.880T>A (p.Ser294Thr) c.*4089T>A (n.*4089T>A) c.600T>A c.997T>A (p.Ser333Thr) c.619T>A (p.Ser207Thr) c.622T>A (p.Ser208Thr) c.5-18504T>A (n.5-18504T>A) c.-43-7934T>A (n.-43-7934T>A) c.-98-32265T>A (n.-98-32265T>A) n.200T>A n.4442T>A n.4483T>A | dbSNP |
| 17 | g.43082456G>A | CA002760 | BRCA1 | c.4305C>T (p.Asp1435=) c.4179C>T (p.Asp1393=) c.4299C>T (p.Asp1433=) c.4227C>T (p.Asp1409=) c.993C>T (p.Asp331=) c.855C>T (p.Asp285=) c.3417C>T (p.Asp1139=) c.4182C>T (p.Asp1394=) c.4164C>T (p.Asp1388=) c.870C>T (p.Asp290=) c.915C>T (p.Asp305=) c.626C>T c.879C>T (p.Asp293=) c.*4088C>T (n.*4088C>T) c.599C>T c.996C>T (p.Asp332=) c.618C>T (p.Asp206=) c.621C>T (p.Asp207=) c.5-18505C>T (n.5-18505C>T) c.-43-7935C>T (n.-43-7935C>T) c.-98-32266C>T (n.-98-32266C>T) n.199C>T n.4441C>T n.4482C>T | ClinVar dbSNP |
| 17 | g.43082456G>C | CA002759 | BRCA1 | c.4305C>G (p.Asp1435Glu) c.4179C>G (p.Asp1393Glu) c.4299C>G (p.Asp1433Glu) c.4227C>G (p.Asp1409Glu) c.993C>G (p.Asp331Glu) c.855C>G (p.Asp285Glu) c.3417C>G (p.Asp1139Glu) c.4182C>G (p.Asp1394Glu) c.4164C>G (p.Asp1388Glu) c.870C>G (p.Asp290Glu) c.915C>G (p.Asp305Glu) c.626C>G c.879C>G (p.Asp293Glu) c.*4088C>G (n.*4088C>G) c.599C>G c.996C>G (p.Asp332Glu) c.618C>G (p.Asp206Glu) c.621C>G (p.Asp207Glu) c.5-18505C>G (n.5-18505C>G) c.-43-7935C>G (n.-43-7935C>G) c.-98-32266C>G (n.-98-32266C>G) n.199C>G n.4441C>G n.4482C>G | ClinVar dbSNP |
| 17 | g.43082456G= | CA2260777991 | BRCA1 | c.4305C= (p.Asp1435=) c.4179C= (p.Asp1393=) c.4299C= (p.Asp1433=) c.4227C= (p.Asp1409=) c.993C= (p.Asp331=) c.855C= (p.Asp285=) c.3417C= (p.Asp1139=) c.4182C= (p.Asp1394=) c.4164C= (p.Asp1388=) c.870C= (p.Asp290=) c.915C= (p.Asp305=) c.626C= c.879C= (p.Asp293=) c.*4088C= (n.*4088C=) c.599C= c.996C= (p.Asp332=) c.618C= (p.Asp206=) c.621C= (p.Asp207=) c.5-18505C= (n.5-18505C=) c.-43-7935C= (n.-43-7935C=) c.-98-32266C= (n.-98-32266C=) n.199C= n.4441C= n.4482C= | |
| 17 | g.43082456G>T | CA10593110 | BRCA1 | c.4305C>A (p.Asp1435Glu) c.4179C>A (p.Asp1393Glu) c.4299C>A (p.Asp1433Glu) c.4227C>A (p.Asp1409Glu) c.993C>A (p.Asp331Glu) c.855C>A (p.Asp285Glu) c.3417C>A (p.Asp1139Glu) c.4182C>A (p.Asp1394Glu) c.4164C>A (p.Asp1388Glu) c.870C>A (p.Asp290Glu) c.915C>A (p.Asp305Glu) c.626C>A c.879C>A (p.Asp293Glu) c.*4088C>A (n.*4088C>A) c.599C>A c.996C>A (p.Asp332Glu) c.618C>A (p.Asp206Glu) c.621C>A (p.Asp207Glu) c.5-18505C>A (n.5-18505C>A) c.-43-7935C>A (n.-43-7935C>A) c.-98-32266C>A (n.-98-32266C>A) n.199C>A n.4441C>A n.4482C>A | |
| 17 | g.43082457T>A | CA10593111 | BRCA1 | c.4304A>T (p.Asp1435Val) c.4178A>T (p.Asp1393Val) c.4298A>T (p.Asp1433Val) c.4226A>T (p.Asp1409Val) c.992A>T (p.Asp331Val) c.854A>T (p.Asp285Val) c.3416A>T (p.Asp1139Val) c.4181A>T (p.Asp1394Val) c.4163A>T (p.Asp1388Val) c.869A>T (p.Asp290Val) c.914A>T (p.Asp305Val) c.625A>T c.878A>T (p.Asp293Val) c.*4087A>T (n.*4087A>T) c.598A>T c.995A>T (p.Asp332Val) c.617A>T (p.Asp206Val) c.620A>T (p.Asp207Val) c.5-18506A>T (n.5-18506A>T) c.-43-7936A>T (n.-43-7936A>T) c.-98-32267A>T (n.-98-32267A>T) n.198A>T n.4440A>T n.4481A>T | ClinVar dbSNP |
| 17 | g.43082457T>C | CA10580525 | BRCA1 | c.4304A>G (p.Asp1435Gly) c.4178A>G (p.Asp1393Gly) c.4298A>G (p.Asp1433Gly) c.4226A>G (p.Asp1409Gly) c.992A>G (p.Asp331Gly) c.854A>G (p.Asp285Gly) c.3416A>G (p.Asp1139Gly) c.4181A>G (p.Asp1394Gly) c.4163A>G (p.Asp1388Gly) c.869A>G (p.Asp290Gly) c.914A>G (p.Asp305Gly) c.625A>G c.878A>G (p.Asp293Gly) c.*4087A>G (n.*4087A>G) c.598A>G c.995A>G (p.Asp332Gly) c.617A>G (p.Asp206Gly) c.620A>G (p.Asp207Gly) c.5-18506A>G (n.5-18506A>G) c.-43-7936A>G (n.-43-7936A>G) c.-98-32267A>G (n.-98-32267A>G) n.198A>G n.4440A>G n.4481A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43082457T>G | CA10593112 | BRCA1 | c.4304A>C (p.Asp1435Ala) c.4178A>C (p.Asp1393Ala) c.4298A>C (p.Asp1433Ala) c.4226A>C (p.Asp1409Ala) c.992A>C (p.Asp331Ala) c.854A>C (p.Asp285Ala) c.3416A>C (p.Asp1139Ala) c.4181A>C (p.Asp1394Ala) c.4163A>C (p.Asp1388Ala) c.869A>C (p.Asp290Ala) c.914A>C (p.Asp305Ala) c.625A>C c.878A>C (p.Asp293Ala) c.*4087A>C (n.*4087A>C) c.598A>C c.995A>C (p.Asp332Ala) c.617A>C (p.Asp206Ala) c.620A>C (p.Asp207Ala) c.5-18506A>C (n.5-18506A>C) c.-43-7936A>C (n.-43-7936A>C) c.-98-32267A>C (n.-98-32267A>C) n.198A>C n.4440A>C n.4481A>C | dbSNP |
| 17 | g.43082457T= | CA2260777992 | BRCA1 | c.4304A= (p.Asp1435=) c.4178A= (p.Asp1393=) c.4298A= (p.Asp1433=) c.4226A= (p.Asp1409=) c.992A= (p.Asp331=) c.854A= (p.Asp285=) c.3416A= (p.Asp1139=) c.4181A= (p.Asp1394=) c.4163A= (p.Asp1388=) c.869A= (p.Asp290=) c.914A= (p.Asp305=) c.625A= c.878A= (p.Asp293=) c.*4087A= (n.*4087A=) c.598A= c.995A= (p.Asp332=) c.617A= (p.Asp206=) c.620A= (p.Asp207=) c.5-18506A= (n.5-18506A=) c.-43-7936A= (n.-43-7936A=) c.-98-32267A= (n.-98-32267A=) n.198A= n.4440A= n.4481A= | |
| 17 | g.43082458C>A | CA10593113 | BRCA1 | c.4303G>T (p.Asp1435Tyr) c.4177G>T (p.Asp1393Tyr) c.4297G>T (p.Asp1433Tyr) c.4225G>T (p.Asp1409Tyr) c.991G>T (p.Asp331Tyr) c.853G>T (p.Asp285Tyr) c.3415G>T (p.Asp1139Tyr) c.4180G>T (p.Asp1394Tyr) c.4162G>T (p.Asp1388Tyr) c.868G>T (p.Asp290Tyr) c.913G>T (p.Asp305Tyr) c.624G>T c.877G>T (p.Asp293Tyr) c.*4086G>T (n.*4086G>T) c.597G>T c.994G>T (p.Asp332Tyr) c.616G>T (p.Asp206Tyr) c.619G>T (p.Asp207Tyr) c.5-18507G>T (n.5-18507G>T) c.-43-7937G>T (n.-43-7937G>T) c.-98-32268G>T (n.-98-32268G>T) n.197G>T n.4439G>T n.4480G>T | |
| 17 | g.43082458C>G | CA10593114 | BRCA1 | c.4303G>C (p.Asp1435His) c.4177G>C (p.Asp1393His) c.4297G>C (p.Asp1433His) c.4225G>C (p.Asp1409His) c.991G>C (p.Asp331His) c.853G>C (p.Asp285His) c.3415G>C (p.Asp1139His) c.4180G>C (p.Asp1394His) c.4162G>C (p.Asp1388His) c.868G>C (p.Asp290His) c.913G>C (p.Asp305His) c.624G>C c.877G>C (p.Asp293His) c.*4086G>C (n.*4086G>C) c.597G>C c.994G>C (p.Asp332His) c.616G>C (p.Asp206His) c.619G>C (p.Asp207His) c.5-18507G>C (n.5-18507G>C) c.-43-7937G>C (n.-43-7937G>C) c.-98-32268G>C (n.-98-32268G>C) n.197G>C n.4439G>C n.4480G>C | |
| 17 | g.43082458C>T | CA10593115 | BRCA1 | c.4303G>A (p.Asp1435Asn) c.4177G>A (p.Asp1393Asn) c.4297G>A (p.Asp1433Asn) c.4225G>A (p.Asp1409Asn) c.991G>A (p.Asp331Asn) c.853G>A (p.Asp285Asn) c.3415G>A (p.Asp1139Asn) c.4180G>A (p.Asp1394Asn) c.4162G>A (p.Asp1388Asn) c.868G>A (p.Asp290Asn) c.913G>A (p.Asp305Asn) c.624G>A c.877G>A (p.Asp293Asn) c.*4086G>A (n.*4086G>A) c.597G>A c.994G>A (p.Asp332Asn) c.616G>A (p.Asp206Asn) c.619G>A (p.Asp207Asn) c.5-18507G>A (n.5-18507G>A) c.-43-7937G>A (n.-43-7937G>A) c.-98-32268G>A (n.-98-32268G>A) n.197G>A n.4439G>A n.4480G>A | dbSNP |
| 17 | g.43082459A>C | CA10593116 | BRCA1 | c.4302T>G (p.Ser1434Arg) c.4176T>G (p.Ser1392Arg) c.4296T>G (p.Ser1432Arg) c.4224T>G (p.Ser1408Arg) c.990T>G (p.Ser330Arg) c.852T>G (p.Ser284Arg) c.3414T>G (p.Ser1138Arg) c.4179T>G (p.Ser1393Arg) c.4161T>G (p.Ser1387Arg) c.867T>G (p.Ser289Arg) c.912T>G (p.Ser304Arg) c.623T>G c.876T>G (p.Ser292Arg) c.*4085T>G (n.*4085T>G) c.596T>G c.993T>G (p.Ser331Arg) c.615T>G (p.Ser205Arg) c.618T>G (p.Ser206Arg) c.5-18508T>G (n.5-18508T>G) c.-43-7938T>G (n.-43-7938T>G) c.-98-32269T>G (n.-98-32269T>G) n.196T>G n.4438T>G n.4479T>G | |
| 17 | g.43082459A>G | CA500148375 | BRCA1 | c.4302T>C (p.Ser1434=) c.4176T>C (p.Ser1392=) c.4296T>C (p.Ser1432=) c.4224T>C (p.Ser1408=) c.990T>C (p.Ser330=) c.852T>C (p.Ser284=) c.3414T>C (p.Ser1138=) c.4179T>C (p.Ser1393=) c.4161T>C (p.Ser1387=) c.867T>C (p.Ser289=) c.912T>C (p.Ser304=) c.623T>C c.876T>C (p.Ser292=) c.*4085T>C (n.*4085T>C) c.596T>C c.993T>C (p.Ser331=) c.615T>C (p.Ser205=) c.618T>C (p.Ser206=) c.5-18508T>C (n.5-18508T>C) c.-43-7938T>C (n.-43-7938T>C) c.-98-32269T>C (n.-98-32269T>C) n.196T>C n.4438T>C n.4479T>C | |
| 17 | g.43082459A>T | CA10593117 | BRCA1 | c.4302T>A (p.Ser1434Arg) c.4176T>A (p.Ser1392Arg) c.4296T>A (p.Ser1432Arg) c.4224T>A (p.Ser1408Arg) c.990T>A (p.Ser330Arg) c.852T>A (p.Ser284Arg) c.3414T>A (p.Ser1138Arg) c.4179T>A (p.Ser1393Arg) c.4161T>A (p.Ser1387Arg) c.867T>A (p.Ser289Arg) c.912T>A (p.Ser304Arg) c.623T>A c.876T>A (p.Ser292Arg) c.*4085T>A (n.*4085T>A) c.596T>A c.993T>A (p.Ser331Arg) c.615T>A (p.Ser205Arg) c.618T>A (p.Ser206Arg) c.5-18508T>A (n.5-18508T>A) c.-43-7938T>A (n.-43-7938T>A) c.-98-32269T>A (n.-98-32269T>A) n.196T>A n.4438T>A n.4479T>A | dbSNP gnomAD v4 |
| 17 | g.43082460del | CA2499224423 | BRCA1 | c.4301del (p.Ser1434MetfsTer21) c.4301del (p.Ser1434MetfsTer22) c.4175del (p.Ser1392MetfsTer22) c.4295del (p.Ser1432MetfsTer22) c.4223del (p.Ser1408MetfsTer22) c.989del (p.Ser330MetfsTer22) c.851del (p.Ser284MetfsTer22) c.3413del (p.Ser1138MetfsTer22) c.4178del (p.Ser1393MetfsTer22) c.4301del (p.Ser1434MetfsTer?) c.4160del (p.Ser1387MetfsTer22) c.866del (p.Ser289MetfsTer21) c.911del (p.Ser304MetfsTer21) c.622del c.875del (p.Ser292MetfsTer22) c.*4084del (n.*4084del) c.595del c.992del (p.Ser331MetfsTer21) c.614del (p.Ser205MetfsTer22) c.617del (p.Ser206MetfsTer22) c.5-18509del (n.5-18509del) c.-43-7939del (n.-43-7939del) c.-98-32270del (n.-98-32270del) n.195del n.4437del n.4478del | ClinVar |