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.43082463A= | CA2260777995 | BRCA1 | c.4298T= (p.Ile1433=) c.4172T= (p.Ile1391=) c.4292T= (p.Ile1431=) c.4220T= (p.Ile1407=) c.986T= (p.Ile329=) c.848T= (p.Ile283=) c.3410T= (p.Ile1137=) c.4175T= (p.Ile1392=) c.4157T= (p.Ile1386=) c.863T= (p.Ile288=) c.908T= (p.Ile303=) c.619T= c.872T= (p.Ile291=) c.*4081T= (n.*4081T=) c.592T= c.989T= (p.Ile330=) c.611T= (p.Ile204=) c.614T= (p.Ile205=) c.5-18512T= (n.5-18512T=) c.-43-7942T= (n.-43-7942T=) c.-98-32273T= (n.-98-32273T=) n.192T= n.4434T= n.4475T= | |
17 | g.43082463A>C | CA10593125 | BRCA1 | c.4298T>G (p.Ile1433Arg) c.4172T>G (p.Ile1391Arg) c.4292T>G (p.Ile1431Arg) c.4220T>G (p.Ile1407Arg) c.986T>G (p.Ile329Arg) c.848T>G (p.Ile283Arg) c.3410T>G (p.Ile1137Arg) c.4175T>G (p.Ile1392Arg) c.4157T>G (p.Ile1386Arg) c.863T>G (p.Ile288Arg) c.908T>G (p.Ile303Arg) c.619T>G c.872T>G (p.Ile291Arg) c.*4081T>G (n.*4081T>G) c.592T>G c.989T>G (p.Ile330Arg) c.611T>G (p.Ile204Arg) c.614T>G (p.Ile205Arg) c.5-18512T>G (n.5-18512T>G) c.-43-7942T>G (n.-43-7942T>G) c.-98-32273T>G (n.-98-32273T>G) n.192T>G n.4434T>G n.4475T>G | dbSNP |
17 | g.43082463A>G | CA10593126 | BRCA1 | c.4298T>C (p.Ile1433Thr) c.4172T>C (p.Ile1391Thr) c.4292T>C (p.Ile1431Thr) c.4220T>C (p.Ile1407Thr) c.986T>C (p.Ile329Thr) c.848T>C (p.Ile283Thr) c.3410T>C (p.Ile1137Thr) c.4175T>C (p.Ile1392Thr) c.4157T>C (p.Ile1386Thr) c.863T>C (p.Ile288Thr) c.908T>C (p.Ile303Thr) c.619T>C c.872T>C (p.Ile291Thr) c.*4081T>C (n.*4081T>C) c.592T>C c.989T>C (p.Ile330Thr) c.611T>C (p.Ile204Thr) c.614T>C (p.Ile205Thr) c.5-18512T>C (n.5-18512T>C) c.-43-7942T>C (n.-43-7942T>C) c.-98-32273T>C (n.-98-32273T>C) n.192T>C n.4434T>C n.4475T>C | ClinVar dbSNP |
17 | g.43082463A>T | CA10593127 | BRCA1 | c.4298T>A (p.Ile1433Lys) c.4172T>A (p.Ile1391Lys) c.4292T>A (p.Ile1431Lys) c.4220T>A (p.Ile1407Lys) c.986T>A (p.Ile329Lys) c.848T>A (p.Ile283Lys) c.3410T>A (p.Ile1137Lys) c.4175T>A (p.Ile1392Lys) c.4157T>A (p.Ile1386Lys) c.863T>A (p.Ile288Lys) c.908T>A (p.Ile303Lys) c.619T>A c.872T>A (p.Ile291Lys) c.*4081T>A (n.*4081T>A) c.592T>A c.989T>A (p.Ile330Lys) c.611T>A (p.Ile204Lys) c.614T>A (p.Ile205Lys) c.5-18512T>A (n.5-18512T>A) c.-43-7942T>A (n.-43-7942T>A) c.-98-32273T>A (n.-98-32273T>A) n.192T>A n.4434T>A n.4475T>A | dbSNP |
17 | g.43082464del | CA2499224424 | BRCA1 | c.4297del (p.Ile1433Ter) c.4171del (p.Ile1391Ter) c.4291del (p.Ile1431Ter) c.4219del (p.Ile1407Ter) c.985del (p.Ile329Ter) c.847del (p.Ile283Ter) c.3409del (p.Ile1137Ter) c.4174del (p.Ile1392Ter) c.4156del (p.Ile1386Ter) c.862del (p.Ile288Ter) c.907del (p.Ile303Ter) c.618del c.871del (p.Ile291Ter) c.*4080del (n.*4080del) c.591del c.988del (p.Ile330Ter) c.610del (p.Ile204Ter) c.613del (p.Ile205Ter) c.5-18513del (n.5-18513del) c.-43-7943del (n.-43-7943del) c.-98-32274del (n.-98-32274del) n.191del n.4433del n.4474del | ClinVar dbSNP |
17 | g.43082464T>A | CA10593128 | BRCA1 | c.4297A>T (p.Ile1433Leu) c.4171A>T (p.Ile1391Leu) c.4291A>T (p.Ile1431Leu) c.4219A>T (p.Ile1407Leu) c.985A>T (p.Ile329Leu) c.847A>T (p.Ile283Leu) c.3409A>T (p.Ile1137Leu) c.4174A>T (p.Ile1392Leu) c.4156A>T (p.Ile1386Leu) c.862A>T (p.Ile288Leu) c.907A>T (p.Ile303Leu) c.618A>T c.871A>T (p.Ile291Leu) c.*4080A>T (n.*4080A>T) c.591A>T c.988A>T (p.Ile330Leu) c.610A>T (p.Ile204Leu) c.613A>T (p.Ile205Leu) c.5-18513A>T (n.5-18513A>T) c.-43-7943A>T (n.-43-7943A>T) c.-98-32274A>T (n.-98-32274A>T) n.191A>T n.4433A>T n.4474A>T | gnomAD v4 |
17 | g.43082464T>C | CA002754 | BRCA1 | c.4297A>G (p.Ile1433Val) c.4171A>G (p.Ile1391Val) c.4291A>G (p.Ile1431Val) c.4219A>G (p.Ile1407Val) c.985A>G (p.Ile329Val) c.847A>G (p.Ile283Val) c.3409A>G (p.Ile1137Val) c.4174A>G (p.Ile1392Val) c.4156A>G (p.Ile1386Val) c.862A>G (p.Ile288Val) c.907A>G (p.Ile303Val) c.618A>G c.871A>G (p.Ile291Val) c.*4080A>G (n.*4080A>G) c.591A>G c.988A>G (p.Ile330Val) c.610A>G (p.Ile204Val) c.613A>G (p.Ile205Val) c.5-18513A>G (n.5-18513A>G) c.-43-7943A>G (n.-43-7943A>G) c.-98-32274A>G (n.-98-32274A>G) n.191A>G n.4433A>G n.4474A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082464T>G | CA10593129 | BRCA1 | c.4297A>C (p.Ile1433Leu) c.4171A>C (p.Ile1391Leu) c.4291A>C (p.Ile1431Leu) c.4219A>C (p.Ile1407Leu) c.985A>C (p.Ile329Leu) c.847A>C (p.Ile283Leu) c.3409A>C (p.Ile1137Leu) c.4174A>C (p.Ile1392Leu) c.4156A>C (p.Ile1386Leu) c.862A>C (p.Ile288Leu) c.907A>C (p.Ile303Leu) c.618A>C c.871A>C (p.Ile291Leu) c.*4080A>C (n.*4080A>C) c.591A>C c.988A>C (p.Ile330Leu) c.610A>C (p.Ile204Leu) c.613A>C (p.Ile205Leu) c.5-18513A>C (n.5-18513A>C) c.-43-7943A>C (n.-43-7943A>C) c.-98-32274A>C (n.-98-32274A>C) n.191A>C n.4433A>C n.4474A>C | |
17 | g.43082464T= | CA2260777997 | BRCA1 | c.4297A= (p.Ile1433=) c.4171A= (p.Ile1391=) c.4291A= (p.Ile1431=) c.4219A= (p.Ile1407=) c.985A= (p.Ile329=) c.847A= (p.Ile283=) c.3409A= (p.Ile1137=) c.4174A= (p.Ile1392=) c.4156A= (p.Ile1386=) c.862A= (p.Ile288=) c.907A= (p.Ile303=) c.618A= c.871A= (p.Ile291=) c.*4080A= (n.*4080A=) c.591A= c.988A= (p.Ile330=) c.610A= (p.Ile204=) c.613A= (p.Ile205=) c.5-18513A= (n.5-18513A=) c.-43-7943A= (n.-43-7943A=) c.-98-32274A= (n.-98-32274A=) n.191A= n.4433A= n.4474A= | |
17 | g.43082464_43082471delinsTGATGGAA | CA2260777996 | BRCA1 | c.4290_4297delinsTTCCATCA (p.Pro1430=) c.4164_4171delinsTTCCATCA (p.Pro1388=) c.4284_4291delinsTTCCATCA (p.Pro1428=) c.4212_4219delinsTTCCATCA (p.Pro1404=) c.978_985delinsTTCCATCA (p.Pro326=) c.840_847delinsTTCCATCA (p.Pro280=) c.3402_3409delinsTTCCATCA (p.Pro1134=) c.4167_4174delinsTTCCATCA (p.Pro1389=) c.4149_4156delinsTTCCATCA (p.Pro1383=) c.855_862delinsTTCCATCA (p.Pro285=) c.900_907delinsTTCCATCA (p.Pro300=) c.611_618delinsTTCCATCA c.864_871delinsTTCCATCA (p.Pro288=) c.*4073_*4080delinsTTCCATCA (n.*4073_*4080delinsTTCCATCA) c.584_591delinsTTCCATCA c.981_988delinsTTCCATCA (p.Pro327=) c.603_610delinsTTCCATCA (p.Pro201=) c.606_613delinsTTCCATCA (p.Pro202=) c.5-18520_5-18513delinsTTCCATCA (n.5-18520_5-18513delinsTTCCATCA) c.-43-7950_-43-7943delinsTTCCATCA (n.-43-7950_-43-7943delinsTTCCATCA) c.-98-32281_-98-32274delinsTTCCATCA (n.-98-32281_-98-32274delinsTTCCATCA) n.184_191delinsTTCCATCA n.4426_4433delinsTTCCATCA n.4467_4474delinsTTCCATCA | |
17 | g.43082465G>A | CA500148378 | BRCA1 | c.4296C>T (p.Ile1432=) c.4170C>T (p.Ile1390=) c.4290C>T (p.Ile1430=) c.4218C>T (p.Ile1406=) c.984C>T (p.Ile328=) c.846C>T (p.Ile282=) c.3408C>T (p.Ile1136=) c.4173C>T (p.Ile1391=) c.4155C>T (p.Ile1385=) c.861C>T (p.Ile287=) c.906C>T (p.Ile302=) c.617C>T c.870C>T (p.Ile290=) c.*4079C>T (n.*4079C>T) c.590C>T c.987C>T (p.Ile329=) c.609C>T (p.Ile203=) c.612C>T (p.Ile204=) c.5-18514C>T (n.5-18514C>T) c.-43-7944C>T (n.-43-7944C>T) c.-98-32275C>T (n.-98-32275C>T) n.190C>T n.4432C>T n.4473C>T | dbSNP |
17 | g.43082465G>C | CA10593130 | BRCA1 | c.4296C>G (p.Ile1432Met) c.4170C>G (p.Ile1390Met) c.4290C>G (p.Ile1430Met) c.4218C>G (p.Ile1406Met) c.984C>G (p.Ile328Met) c.846C>G (p.Ile282Met) c.3408C>G (p.Ile1136Met) c.4173C>G (p.Ile1391Met) c.4155C>G (p.Ile1385Met) c.861C>G (p.Ile287Met) c.906C>G (p.Ile302Met) c.617C>G c.870C>G (p.Ile290Met) c.*4079C>G (n.*4079C>G) c.590C>G c.987C>G (p.Ile329Met) c.609C>G (p.Ile203Met) c.612C>G (p.Ile204Met) c.5-18514C>G (n.5-18514C>G) c.-43-7944C>G (n.-43-7944C>G) c.-98-32275C>G (n.-98-32275C>G) n.190C>G n.4432C>G n.4473C>G | dbSNP |
17 | g.43082465G>T | CA500148379 | BRCA1 | c.4296C>A (p.Ile1432=) c.4170C>A (p.Ile1390=) c.4290C>A (p.Ile1430=) c.4218C>A (p.Ile1406=) c.984C>A (p.Ile328=) c.846C>A (p.Ile282=) c.3408C>A (p.Ile1136=) c.4173C>A (p.Ile1391=) c.4155C>A (p.Ile1385=) c.861C>A (p.Ile287=) c.906C>A (p.Ile302=) c.617C>A c.870C>A (p.Ile290=) c.*4079C>A (n.*4079C>A) c.590C>A c.987C>A (p.Ile329=) c.609C>A (p.Ile203=) c.612C>A (p.Ile204=) c.5-18514C>A (n.5-18514C>A) c.-43-7944C>A (n.-43-7944C>A) c.-98-32275C>A (n.-98-32275C>A) n.190C>A n.4432C>A n.4473C>A | |
17 | g.43082466_43082472del | CA10589671 | BRCA1 | c.4290_4296del (p.Ser1431Ter) c.4164_4170del (p.Ser1389Ter) c.4284_4290del (p.Ser1429Ter) c.4212_4218del (p.Ser1405Ter) c.978_984del (p.Ser327Ter) c.840_846del (p.Ser281Ter) c.3402_3408del (p.Ser1135Ter) c.4167_4173del (p.Ser1390Ter) c.4149_4155del (p.Ser1384Ter) c.855_861del (p.Ser286Ter) c.900_906del (p.Ser301Ter) c.611_617del c.864_870del (p.Ser289Ter) c.*4073_*4079del (n.*4073_*4079del) c.584_590del c.981_987del (p.Ser328Ter) c.603_609del (p.Ser202Ter) c.606_612del (p.Ser203Ter) c.5-18520_5-18514del (n.5-18520_5-18514del) c.-43-7950_-43-7944del (n.-43-7950_-43-7944del) c.-98-32281_-98-32275del (n.-98-32281_-98-32275del) n.184_190del n.4426_4432del n.4467_4473del | ClinVar dbSNP |
17 | g.43082465_43082490delinsGATGGAAGGGTAGCTGTTAGAAGGCT | CA2260777998 | BRCA1 | c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1424=) c.4145_4170delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1382=) c.4265_4290delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1422=) c.4193_4218delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1398=) c.959_984delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln320=) c.821_846delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln274=) c.3383_3408delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1128=) c.4148_4173delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1383=) c.4130_4155delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1377=) c.836_861delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln279=) c.881_906delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln294=) c.592_617delinsAGCCTTCTAACAGCTACCCTTCCATC c.845_870delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln282=) c.*4054_*4079delinsAGCCTTCTAACAGCTACCCTTCCATC (n.*4054_*4079delinsAGCCTTCTAACAGCTACCCTTCCATC) c.565_590delinsAGCCTTCTAACAGCTACCCTTCCATC c.962_987delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln321=) c.584_609delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln195=) c.587_612delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln196=) c.5-18539_5-18514delinsAGCCTTCTAACAGCTACCCTTCCATC (n.5-18539_5-18514delinsAGCCTTCTAACAGCTACCCTTCCATC) c.-43-7969_-43-7944delinsAGCCTTCTAACAGCTACCCTTCCATC (n.-43-7969_-43-7944delinsAGCCTTCTAACAGCTACCCTTCCATC) c.-98-32300_-98-32275delinsAGCCTTCTAACAGCTACCCTTCCATC (n.-98-32300_-98-32275delinsAGCCTTCTAACAGCTACCCTTCCATC) n.165_190delinsAGCCTTCTAACAGCTACCCTTCCATC n.4407_4432delinsAGCCTTCTAACAGCTACCCTTCCATC n.4448_4473delinsAGCCTTCTAACAGCTACCCTTCCATC | |
17 | g.43082466A>C | CA10593131 | BRCA1 | c.4295T>G (p.Ile1432Ser) c.4169T>G (p.Ile1390Ser) c.4289T>G (p.Ile1430Ser) c.4217T>G (p.Ile1406Ser) c.983T>G (p.Ile328Ser) c.845T>G (p.Ile282Ser) c.3407T>G (p.Ile1136Ser) c.4172T>G (p.Ile1391Ser) c.4154T>G (p.Ile1385Ser) c.860T>G (p.Ile287Ser) c.905T>G (p.Ile302Ser) c.616T>G c.869T>G (p.Ile290Ser) c.*4078T>G (n.*4078T>G) c.589T>G c.986T>G (p.Ile329Ser) c.608T>G (p.Ile203Ser) c.611T>G (p.Ile204Ser) c.5-18515T>G (n.5-18515T>G) c.-43-7945T>G (n.-43-7945T>G) c.-98-32276T>G (n.-98-32276T>G) n.189T>G n.4431T>G n.4472T>G | |
17 | g.43082466A>G | CA10593132 | BRCA1 | c.4295T>C (p.Ile1432Thr) c.4169T>C (p.Ile1390Thr) c.4289T>C (p.Ile1430Thr) c.4217T>C (p.Ile1406Thr) c.983T>C (p.Ile328Thr) c.845T>C (p.Ile282Thr) c.3407T>C (p.Ile1136Thr) c.4172T>C (p.Ile1391Thr) c.4154T>C (p.Ile1385Thr) c.860T>C (p.Ile287Thr) c.905T>C (p.Ile302Thr) c.616T>C c.869T>C (p.Ile290Thr) c.*4078T>C (n.*4078T>C) c.589T>C c.986T>C (p.Ile329Thr) c.608T>C (p.Ile203Thr) c.611T>C (p.Ile204Thr) c.5-18515T>C (n.5-18515T>C) c.-43-7945T>C (n.-43-7945T>C) c.-98-32276T>C (n.-98-32276T>C) n.189T>C n.4431T>C n.4472T>C | dbSNP |
17 | g.43082466A>T | CA10593133 | BRCA1 | c.4295T>A (p.Ile1432Asn) c.4169T>A (p.Ile1390Asn) c.4289T>A (p.Ile1430Asn) c.4217T>A (p.Ile1406Asn) c.983T>A (p.Ile328Asn) c.845T>A (p.Ile282Asn) c.3407T>A (p.Ile1136Asn) c.4172T>A (p.Ile1391Asn) c.4154T>A (p.Ile1385Asn) c.860T>A (p.Ile287Asn) c.905T>A (p.Ile302Asn) c.616T>A c.869T>A (p.Ile290Asn) c.*4078T>A (n.*4078T>A) c.589T>A c.986T>A (p.Ile329Asn) c.608T>A (p.Ile203Asn) c.611T>A (p.Ile204Asn) c.5-18515T>A (n.5-18515T>A) c.-43-7945T>A (n.-43-7945T>A) c.-98-32276T>A (n.-98-32276T>A) n.189T>A n.4431T>A n.4472T>A | dbSNP |
17 | g.43082466_43082490del | CA1139665594 | BRCA1 | c.4271_4295del (p.Gln1424ProfsTer2) c.4145_4169del (p.Gln1382ProfsTer2) c.4265_4289del (p.Gln1422ProfsTer2) c.4193_4217del (p.Gln1398ProfsTer2) c.959_983del (p.Gln320ProfsTer2) c.821_845del (p.Gln274ProfsTer2) c.3383_3407del (p.Gln1128ProfsTer2) c.4148_4172del (p.Gln1383ProfsTer2) c.4130_4154del (p.Gln1377ProfsTer2) c.836_860del (p.Gln279ProfsTer2) c.881_905del (p.Gln294ProfsTer2) c.592_616del c.845_869del (p.Gln282ProfsTer2) c.*4054_*4078del (n.*4054_*4078del) c.565_589del c.962_986del (p.Gln321ProfsTer2) c.584_608del (p.Gln195ProfsTer2) c.587_611del (p.Gln196ProfsTer2) c.5-18539_5-18515del (n.5-18539_5-18515del) c.-43-7969_-43-7945del (n.-43-7969_-43-7945del) c.-98-32300_-98-32276del (n.-98-32300_-98-32276del) n.165_189del n.4407_4431del n.4448_4472del | ClinVar dbSNP |
17 | g.43082467T>A | CA10593134 | BRCA1 | c.4294A>T (p.Ile1432Phe) c.4168A>T (p.Ile1390Phe) c.4288A>T (p.Ile1430Phe) c.4216A>T (p.Ile1406Phe) c.982A>T (p.Ile328Phe) c.844A>T (p.Ile282Phe) c.3406A>T (p.Ile1136Phe) c.4171A>T (p.Ile1391Phe) c.4153A>T (p.Ile1385Phe) c.859A>T (p.Ile287Phe) c.904A>T (p.Ile302Phe) c.615A>T c.868A>T (p.Ile290Phe) c.*4077A>T (n.*4077A>T) c.588A>T c.985A>T (p.Ile329Phe) c.607A>T (p.Ile203Phe) c.610A>T (p.Ile204Phe) c.5-18516A>T (n.5-18516A>T) c.-43-7946A>T (n.-43-7946A>T) c.-98-32277A>T (n.-98-32277A>T) n.188A>T n.4430A>T n.4471A>T | |
17 | g.43082467T>C | CA10593135 | BRCA1 | c.4294A>G (p.Ile1432Val) c.4168A>G (p.Ile1390Val) c.4288A>G (p.Ile1430Val) c.4216A>G (p.Ile1406Val) c.982A>G (p.Ile328Val) c.844A>G (p.Ile282Val) c.3406A>G (p.Ile1136Val) c.4171A>G (p.Ile1391Val) c.4153A>G (p.Ile1385Val) c.859A>G (p.Ile287Val) c.904A>G (p.Ile302Val) c.615A>G c.868A>G (p.Ile290Val) c.*4077A>G (n.*4077A>G) c.588A>G c.985A>G (p.Ile329Val) c.607A>G (p.Ile203Val) c.610A>G (p.Ile204Val) c.5-18516A>G (n.5-18516A>G) c.-43-7946A>G (n.-43-7946A>G) c.-98-32277A>G (n.-98-32277A>G) n.188A>G n.4430A>G n.4471A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43082467T>G | CA002753 | BRCA1 | c.4294A>C (p.Ile1432Leu) c.4168A>C (p.Ile1390Leu) c.4288A>C (p.Ile1430Leu) c.4216A>C (p.Ile1406Leu) c.982A>C (p.Ile328Leu) c.844A>C (p.Ile282Leu) c.3406A>C (p.Ile1136Leu) c.4171A>C (p.Ile1391Leu) c.4153A>C (p.Ile1385Leu) c.859A>C (p.Ile287Leu) c.904A>C (p.Ile302Leu) c.615A>C c.868A>C (p.Ile290Leu) c.*4077A>C (n.*4077A>C) c.588A>C c.985A>C (p.Ile329Leu) c.607A>C (p.Ile203Leu) c.610A>C (p.Ile204Leu) c.5-18516A>C (n.5-18516A>C) c.-43-7946A>C (n.-43-7946A>C) c.-98-32277A>C (n.-98-32277A>C) n.188A>C n.4430A>C n.4471A>C | ClinVar dbSNP |
17 | g.43082467T= | CA2260777999 | BRCA1 | c.4294A= (p.Ile1432=) c.4168A= (p.Ile1390=) c.4288A= (p.Ile1430=) c.4216A= (p.Ile1406=) c.982A= (p.Ile328=) c.844A= (p.Ile282=) c.3406A= (p.Ile1136=) c.4171A= (p.Ile1391=) c.4153A= (p.Ile1385=) c.859A= (p.Ile287=) c.904A= (p.Ile302=) c.615A= c.868A= (p.Ile290=) c.*4077A= (n.*4077A=) c.588A= c.985A= (p.Ile329=) c.607A= (p.Ile203=) c.610A= (p.Ile204=) c.5-18516A= (n.5-18516A=) c.-43-7946A= (n.-43-7946A=) c.-98-32277A= (n.-98-32277A=) n.188A= n.4430A= n.4471A= | |
17 | g.43082468G>A | CA500148380 | BRCA1 | c.4293C>T (p.Ser1431=) c.4167C>T (p.Ser1389=) c.4287C>T (p.Ser1429=) c.4215C>T (p.Ser1405=) c.981C>T (p.Ser327=) c.843C>T (p.Ser281=) c.3405C>T (p.Ser1135=) c.4170C>T (p.Ser1390=) c.4152C>T (p.Ser1384=) c.858C>T (p.Ser286=) c.903C>T (p.Ser301=) c.614C>T c.867C>T (p.Ser289=) c.*4076C>T (n.*4076C>T) c.587C>T c.984C>T (p.Ser328=) c.606C>T (p.Ser202=) c.609C>T (p.Ser203=) c.5-18517C>T (n.5-18517C>T) c.-43-7947C>T (n.-43-7947C>T) c.-98-32278C>T (n.-98-32278C>T) n.187C>T n.4429C>T n.4470C>T | dbSNP |
17 | g.43082468G>C | CA500148381 | BRCA1 | c.4293C>G (p.Ser1431=) c.4167C>G (p.Ser1389=) c.4287C>G (p.Ser1429=) c.4215C>G (p.Ser1405=) c.981C>G (p.Ser327=) c.843C>G (p.Ser281=) c.3405C>G (p.Ser1135=) c.4170C>G (p.Ser1390=) c.4152C>G (p.Ser1384=) c.858C>G (p.Ser286=) c.903C>G (p.Ser301=) c.614C>G c.867C>G (p.Ser289=) c.*4076C>G (n.*4076C>G) c.587C>G c.984C>G (p.Ser328=) c.606C>G (p.Ser202=) c.609C>G (p.Ser203=) c.5-18517C>G (n.5-18517C>G) c.-43-7947C>G (n.-43-7947C>G) c.-98-32278C>G (n.-98-32278C>G) n.187C>G n.4429C>G n.4470C>G | dbSNP |
17 | g.43082468G>T | CA500148382 | BRCA1 | c.4293C>A (p.Ser1431=) c.4167C>A (p.Ser1389=) c.4287C>A (p.Ser1429=) c.4215C>A (p.Ser1405=) c.981C>A (p.Ser327=) c.843C>A (p.Ser281=) c.3405C>A (p.Ser1135=) c.4170C>A (p.Ser1390=) c.4152C>A (p.Ser1384=) c.858C>A (p.Ser286=) c.903C>A (p.Ser301=) c.614C>A c.867C>A (p.Ser289=) c.*4076C>A (n.*4076C>A) c.587C>A c.984C>A (p.Ser328=) c.606C>A (p.Ser202=) c.609C>A (p.Ser203=) c.5-18517C>A (n.5-18517C>A) c.-43-7947C>A (n.-43-7947C>A) c.-98-32278C>A (n.-98-32278C>A) n.187C>A n.4429C>A n.4470C>A | |
17 | g.43082469G>A | CA059831 | BRCA1 | c.4292C>T (p.Ser1431Phe) c.4166C>T (p.Ser1389Phe) c.4286C>T (p.Ser1429Phe) c.4214C>T (p.Ser1405Phe) c.980C>T (p.Ser327Phe) c.842C>T (p.Ser281Phe) c.3404C>T (p.Ser1135Phe) c.4169C>T (p.Ser1390Phe) c.4151C>T (p.Ser1384Phe) c.857C>T (p.Ser286Phe) c.902C>T (p.Ser301Phe) c.613C>T c.866C>T (p.Ser289Phe) c.*4075C>T (n.*4075C>T) c.586C>T c.983C>T (p.Ser328Phe) c.605C>T (p.Ser202Phe) c.608C>T (p.Ser203Phe) c.5-18518C>T (n.5-18518C>T) c.-43-7948C>T (n.-43-7948C>T) c.-98-32279C>T (n.-98-32279C>T) n.186C>T n.4428C>T n.4469C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43082469G>C | CA10593136 | BRCA1 | c.4292C>G (p.Ser1431Cys) c.4166C>G (p.Ser1389Cys) c.4286C>G (p.Ser1429Cys) c.4214C>G (p.Ser1405Cys) c.980C>G (p.Ser327Cys) c.842C>G (p.Ser281Cys) c.3404C>G (p.Ser1135Cys) c.4169C>G (p.Ser1390Cys) c.4151C>G (p.Ser1384Cys) c.857C>G (p.Ser286Cys) c.902C>G (p.Ser301Cys) c.613C>G c.866C>G (p.Ser289Cys) c.*4075C>G (n.*4075C>G) c.586C>G c.983C>G (p.Ser328Cys) c.605C>G (p.Ser202Cys) c.608C>G (p.Ser203Cys) c.5-18518C>G (n.5-18518C>G) c.-43-7948C>G (n.-43-7948C>G) c.-98-32279C>G (n.-98-32279C>G) n.186C>G n.4428C>G n.4469C>G | |
17 | g.43082469G= | CA2260778000 | BRCA1 | c.4292C= (p.Ser1431=) c.4166C= (p.Ser1389=) c.4286C= (p.Ser1429=) c.4214C= (p.Ser1405=) c.980C= (p.Ser327=) c.842C= (p.Ser281=) c.3404C= (p.Ser1135=) c.4169C= (p.Ser1390=) c.4151C= (p.Ser1384=) c.857C= (p.Ser286=) c.902C= (p.Ser301=) c.613C= c.866C= (p.Ser289=) c.*4075C= (n.*4075C=) c.586C= c.983C= (p.Ser328=) c.605C= (p.Ser202=) c.608C= (p.Ser203=) c.5-18518C= (n.5-18518C=) c.-43-7948C= (n.-43-7948C=) c.-98-32279C= (n.-98-32279C=) n.186C= n.4428C= n.4469C= | |
17 | g.43082469G>T | CA10593137 | BRCA1 | c.4292C>A (p.Ser1431Tyr) c.4166C>A (p.Ser1389Tyr) c.4286C>A (p.Ser1429Tyr) c.4214C>A (p.Ser1405Tyr) c.980C>A (p.Ser327Tyr) c.842C>A (p.Ser281Tyr) c.3404C>A (p.Ser1135Tyr) c.4169C>A (p.Ser1390Tyr) c.4151C>A (p.Ser1384Tyr) c.857C>A (p.Ser286Tyr) c.902C>A (p.Ser301Tyr) c.613C>A c.866C>A (p.Ser289Tyr) c.*4075C>A (n.*4075C>A) c.586C>A c.983C>A (p.Ser328Tyr) c.605C>A (p.Ser202Tyr) c.608C>A (p.Ser203Tyr) c.5-18518C>A (n.5-18518C>A) c.-43-7948C>A (n.-43-7948C>A) c.-98-32279C>A (n.-98-32279C>A) n.186C>A n.4428C>A n.4469C>A | |
17 | g.43082470A>C | CA10593138 | BRCA1 | c.4291T>G (p.Ser1431Ala) c.4165T>G (p.Ser1389Ala) c.4285T>G (p.Ser1429Ala) c.4213T>G (p.Ser1405Ala) c.979T>G (p.Ser327Ala) c.841T>G (p.Ser281Ala) c.3403T>G (p.Ser1135Ala) c.4168T>G (p.Ser1390Ala) c.4150T>G (p.Ser1384Ala) c.856T>G (p.Ser286Ala) c.901T>G (p.Ser301Ala) c.612T>G c.865T>G (p.Ser289Ala) c.*4074T>G (n.*4074T>G) c.585T>G c.982T>G (p.Ser328Ala) c.604T>G (p.Ser202Ala) c.607T>G (p.Ser203Ala) c.5-18519T>G (n.5-18519T>G) c.-43-7949T>G (n.-43-7949T>G) c.-98-32280T>G (n.-98-32280T>G) n.185T>G n.4427T>G n.4468T>G | |
17 | g.43082470A>G | CA10593139 | BRCA1 | c.4291T>C (p.Ser1431Pro) c.4165T>C (p.Ser1389Pro) c.4285T>C (p.Ser1429Pro) c.4213T>C (p.Ser1405Pro) c.979T>C (p.Ser327Pro) c.841T>C (p.Ser281Pro) c.3403T>C (p.Ser1135Pro) c.4168T>C (p.Ser1390Pro) c.4150T>C (p.Ser1384Pro) c.856T>C (p.Ser286Pro) c.901T>C (p.Ser301Pro) c.612T>C c.865T>C (p.Ser289Pro) c.*4074T>C (n.*4074T>C) c.585T>C c.982T>C (p.Ser328Pro) c.604T>C (p.Ser202Pro) c.607T>C (p.Ser203Pro) c.5-18519T>C (n.5-18519T>C) c.-43-7949T>C (n.-43-7949T>C) c.-98-32280T>C (n.-98-32280T>C) n.185T>C n.4427T>C n.4468T>C | |
17 | g.43082470A>T | CA10593140 | BRCA1 | c.4291T>A (p.Ser1431Thr) c.4165T>A (p.Ser1389Thr) c.4285T>A (p.Ser1429Thr) c.4213T>A (p.Ser1405Thr) c.979T>A (p.Ser327Thr) c.841T>A (p.Ser281Thr) c.3403T>A (p.Ser1135Thr) c.4168T>A (p.Ser1390Thr) c.4150T>A (p.Ser1384Thr) c.856T>A (p.Ser286Thr) c.901T>A (p.Ser301Thr) c.612T>A c.865T>A (p.Ser289Thr) c.*4074T>A (n.*4074T>A) c.585T>A c.982T>A (p.Ser328Thr) c.604T>A (p.Ser202Thr) c.607T>A (p.Ser203Thr) c.5-18519T>A (n.5-18519T>A) c.-43-7949T>A (n.-43-7949T>A) c.-98-32280T>A (n.-98-32280T>A) n.185T>A n.4427T>A n.4468T>A | dbSNP |
17 | g.43082471A= | CA2260778001 | BRCA1 | c.4290T= (p.Pro1430=) c.4164T= (p.Pro1388=) c.4284T= (p.Pro1428=) c.4212T= (p.Pro1404=) c.978T= (p.Pro326=) c.840T= (p.Pro280=) c.3402T= (p.Pro1134=) c.4167T= (p.Pro1389=) c.4149T= (p.Pro1383=) c.855T= (p.Pro285=) c.900T= (p.Pro300=) c.611T= c.864T= (p.Pro288=) c.*4073T= (n.*4073T=) c.584T= c.981T= (p.Pro327=) c.603T= (p.Pro201=) c.606T= (p.Pro202=) c.5-18520T= (n.5-18520T=) c.-43-7950T= (n.-43-7950T=) c.-98-32281T= (n.-98-32281T=) n.184T= n.4426T= n.4467T= | |
17 | g.43082471A>C | CA500148383 | BRCA1 | c.4290T>G (p.Pro1430=) c.4164T>G (p.Pro1388=) c.4284T>G (p.Pro1428=) c.4212T>G (p.Pro1404=) c.978T>G (p.Pro326=) c.840T>G (p.Pro280=) c.3402T>G (p.Pro1134=) c.4167T>G (p.Pro1389=) c.4149T>G (p.Pro1383=) c.855T>G (p.Pro285=) c.900T>G (p.Pro300=) c.611T>G c.864T>G (p.Pro288=) c.*4073T>G (n.*4073T>G) c.584T>G c.981T>G (p.Pro327=) c.603T>G (p.Pro201=) c.606T>G (p.Pro202=) c.5-18520T>G (n.5-18520T>G) c.-43-7950T>G (n.-43-7950T>G) c.-98-32281T>G (n.-98-32281T>G) n.184T>G n.4426T>G n.4467T>G | |
17 | g.43082471A>G | CA500148384 | BRCA1 | c.4290T>C (p.Pro1430=) c.4164T>C (p.Pro1388=) c.4284T>C (p.Pro1428=) c.4212T>C (p.Pro1404=) c.978T>C (p.Pro326=) c.840T>C (p.Pro280=) c.3402T>C (p.Pro1134=) c.4167T>C (p.Pro1389=) c.4149T>C (p.Pro1383=) c.855T>C (p.Pro285=) c.900T>C (p.Pro300=) c.611T>C c.864T>C (p.Pro288=) c.*4073T>C (n.*4073T>C) c.584T>C c.981T>C (p.Pro327=) c.603T>C (p.Pro201=) c.606T>C (p.Pro202=) c.5-18520T>C (n.5-18520T>C) c.-43-7950T>C (n.-43-7950T>C) c.-98-32281T>C (n.-98-32281T>C) n.184T>C n.4426T>C n.4467T>C | ClinVar dbSNP |
17 | g.43082471A>T | CA500148385 | BRCA1 | c.4290T>A (p.Pro1430=) c.4164T>A (p.Pro1388=) c.4284T>A (p.Pro1428=) c.4212T>A (p.Pro1404=) c.978T>A (p.Pro326=) c.840T>A (p.Pro280=) c.3402T>A (p.Pro1134=) c.4167T>A (p.Pro1389=) c.4149T>A (p.Pro1383=) c.855T>A (p.Pro285=) c.900T>A (p.Pro300=) c.611T>A c.864T>A (p.Pro288=) c.*4073T>A (n.*4073T>A) c.584T>A c.981T>A (p.Pro327=) c.603T>A (p.Pro201=) c.606T>A (p.Pro202=) c.5-18520T>A (n.5-18520T>A) c.-43-7950T>A (n.-43-7950T>A) c.-98-32281T>A (n.-98-32281T>A) n.184T>A n.4426T>A n.4467T>A | |
17 | g.43082473_43082477del | CA2499224425 | BRCA1 | c.4286_4290del (p.Tyr1429PhefsTer5) c.4160_4164del (p.Tyr1387PhefsTer5) c.4280_4284del (p.Tyr1427PhefsTer5) c.4208_4212del (p.Tyr1403PhefsTer5) c.974_978del (p.Tyr325PhefsTer5) c.836_840del (p.Tyr279PhefsTer5) c.3398_3402del (p.Tyr1133PhefsTer5) c.4163_4167del (p.Tyr1388PhefsTer5) c.4145_4149del (p.Tyr1382PhefsTer5) c.851_855del (p.Tyr284PhefsTer5) c.896_900del (p.Tyr299PhefsTer5) c.607_611del c.860_864del (p.Tyr287PhefsTer5) c.*4069_*4073del (n.*4069_*4073del) c.580_584del c.977_981del (p.Tyr326PhefsTer5) c.599_603del (p.Tyr200PhefsTer5) c.602_606del (p.Tyr201PhefsTer5) c.5-18524_5-18520del (n.5-18524_5-18520del) c.-43-7954_-43-7950del (n.-43-7954_-43-7950del) c.-98-32285_-98-32281del (n.-98-32285_-98-32281del) n.180_184del n.4422_4426del n.4463_4467del | |
17 | g.43082472G>A | CA10593141 | BRCA1 | c.4289C>T (p.Pro1430Leu) c.4163C>T (p.Pro1388Leu) c.4283C>T (p.Pro1428Leu) c.4211C>T (p.Pro1404Leu) c.977C>T (p.Pro326Leu) c.839C>T (p.Pro280Leu) c.3401C>T (p.Pro1134Leu) c.4166C>T (p.Pro1389Leu) c.4148C>T (p.Pro1383Leu) c.854C>T (p.Pro285Leu) c.899C>T (p.Pro300Leu) c.610C>T c.863C>T (p.Pro288Leu) c.*4072C>T (n.*4072C>T) c.583C>T c.980C>T (p.Pro327Leu) c.602C>T (p.Pro201Leu) c.605C>T (p.Pro202Leu) c.5-18521C>T (n.5-18521C>T) c.-43-7951C>T (n.-43-7951C>T) c.-98-32282C>T (n.-98-32282C>T) n.183C>T n.4425C>T n.4466C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43082472G>C | CA10593142 | BRCA1 | c.4289C>G (p.Pro1430Arg) c.4163C>G (p.Pro1388Arg) c.4283C>G (p.Pro1428Arg) c.4211C>G (p.Pro1404Arg) c.977C>G (p.Pro326Arg) c.839C>G (p.Pro280Arg) c.3401C>G (p.Pro1134Arg) c.4166C>G (p.Pro1389Arg) c.4148C>G (p.Pro1383Arg) c.854C>G (p.Pro285Arg) c.899C>G (p.Pro300Arg) c.610C>G c.863C>G (p.Pro288Arg) c.*4072C>G (n.*4072C>G) c.583C>G c.980C>G (p.Pro327Arg) c.602C>G (p.Pro201Arg) c.605C>G (p.Pro202Arg) c.5-18521C>G (n.5-18521C>G) c.-43-7951C>G (n.-43-7951C>G) c.-98-32282C>G (n.-98-32282C>G) n.183C>G n.4425C>G n.4466C>G | ClinVar dbSNP |
17 | g.43082472G= | CA2260778002 | BRCA1 | c.4289C= (p.Pro1430=) c.4163C= (p.Pro1388=) c.4283C= (p.Pro1428=) c.4211C= (p.Pro1404=) c.977C= (p.Pro326=) c.839C= (p.Pro280=) c.3401C= (p.Pro1134=) c.4166C= (p.Pro1389=) c.4148C= (p.Pro1383=) c.854C= (p.Pro285=) c.899C= (p.Pro300=) c.610C= c.863C= (p.Pro288=) c.*4072C= (n.*4072C=) c.583C= c.980C= (p.Pro327=) c.602C= (p.Pro201=) c.605C= (p.Pro202=) c.5-18521C= (n.5-18521C=) c.-43-7951C= (n.-43-7951C=) c.-98-32282C= (n.-98-32282C=) n.183C= n.4425C= n.4466C= |