Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112838985_112840960delCA2838032980APCc.3445_5420del (p.Gln1149LysfsTer9)
c.*3397_*5372del (n.*3397_*5372del)
c.3337_5312del (p.Gln1113LysfsTer9)
c.3391_5366del (p.Gln1131LysfsTer9)
c.*2713_*4688del (n.*2713_*4688del)
c.230+10013_230+11988del
c.3421_5396del (p.Gln1141LysfsTer9)
c.3316_5291del (p.Gln1106LysfsTer9)
c.3307_5282del (p.Gln1103LysfsTer9)
c.3268_5243del (p.Gln1090LysfsTer9)
c.3214_5189del (p.Gln1072LysfsTer9)
c.3118_5093del (p.Gln1040LysfsTer9)
c.3088_5063del (p.Gln1030LysfsTer9)
c.3013_4988del (p.Gln1005LysfsTer9)
c.2911_4886del (p.Gln971LysfsTer9)
c.2542_4517del (p.Gln848LysfsTer9)
5g.112839169_112841264delCA645543580APCc.3629_5724del (p.Lys1210ArgfsTer3)
c.*3581_*5676del (n.*3581_*5676del)
c.3521_5616del (p.Lys1174ArgfsTer3)
c.3575_5670del (p.Lys1192ArgfsTer3)
c.*2897_*4992del (n.*2897_*4992del)
c.230+10197_230+12292del
c.3605_5700del (p.Lys1202ArgfsTer3)
c.3500_5595del (p.Lys1167ArgfsTer3)
c.3491_5586del (p.Lys1164ArgfsTer3)
c.3452_5547del (p.Lys1151ArgfsTer3)
c.3398_5493del (p.Lys1133ArgfsTer3)
c.3302_5397del (p.Lys1101ArgfsTer3)
c.3272_5367del (p.Lys1091ArgfsTer3)
c.3197_5292del (p.Lys1066ArgfsTer3)
c.3095_5190del (p.Lys1032ArgfsTer3)
c.2726_4821del (p.Lys909ArgfsTer3)
 COSMIC
5g.112839985_112840294delinsCACCTACTGCTGAAACA658760717APCc.4445_4754delinsCACCTACTGCTGAAA (p.Glu1482AlafsTer14)
c.*4397_*4706delinsCACCTACTGCTGAAA (n.*4397_*4706delinsCACCTACTGCTGAAA)
c.4337_4646delinsCACCTACTGCTGAAA (p.Glu1446AlafsTer14)
c.4391_4700delinsCACCTACTGCTGAAA (p.Glu1464AlafsTer14)
c.*3713_*4022delinsCACCTACTGCTGAAA (n.*3713_*4022delinsCACCTACTGCTGAAA)
c.230+11013_230+11322delinsCACCTACTGCTGAAA
c.4421_4730delinsCACCTACTGCTGAAA (p.Glu1474AlafsTer14)
c.4316_4625delinsCACCTACTGCTGAAA (p.Glu1439AlafsTer14)
c.4307_4616delinsCACCTACTGCTGAAA (p.Glu1436AlafsTer14)
c.4268_4577delinsCACCTACTGCTGAAA (p.Glu1423AlafsTer14)
c.4214_4523delinsCACCTACTGCTGAAA (p.Glu1405AlafsTer14)
c.4118_4427delinsCACCTACTGCTGAAA (p.Glu1373AlafsTer14)
c.4088_4397delinsCACCTACTGCTGAAA (p.Glu1363AlafsTer14)
c.4013_4322delinsCACCTACTGCTGAAA (p.Glu1338AlafsTer14)
c.3911_4220delinsCACCTACTGCTGAAA (p.Glu1304AlafsTer14)
c.3542_3851delinsCACCTACTGCTGAAA (p.Glu1181AlafsTer14)
5g.112840073_112840862delCA2499217486APCc.4533_5322del (p.Glu1512LeufsTer9)
c.*4485_*5274del (n.*4485_*5274del)
c.4425_5214del (p.Glu1476LeufsTer9)
c.4479_5268del (p.Glu1494LeufsTer9)
c.*3801_*4590del (n.*3801_*4590del)
c.230+11101_230+11890del
c.4509_5298del (p.Glu1504LeufsTer9)
c.4404_5193del (p.Glu1469LeufsTer9)
c.4395_5184del (p.Glu1466LeufsTer9)
c.4356_5145del (p.Glu1453LeufsTer9)
c.4302_5091del (p.Glu1435LeufsTer9)
c.4206_4995del (p.Glu1403LeufsTer9)
c.4176_4965del (p.Glu1393LeufsTer9)
c.4101_4890del (p.Glu1368LeufsTer9)
c.3999_4788del (p.Glu1334LeufsTer9)
c.3630_4419del (p.Glu1211LeufsTer9)
 ClinVar dbSNP
5g.112840128_112843000delCA2582341313APCc.4588_7460del (p.Asp1530Ter)
c.*4540_*7412del (n.*4540_*7412del)
c.4480_7352del (p.Asp1494Ter)
c.4534_7406del (p.Asp1512Ter)
c.230+11156_231-13649del
c.4564_7436del (p.Asp1522Ter)
c.4459_7331del (p.Asp1487Ter)
c.4450_7322del (p.Asp1484Ter)
c.4411_7283del (p.Asp1471Ter)
c.4357_7229del (p.Asp1453Ter)
c.4261_7133del (p.Asp1421Ter)
c.4231_7103del (p.Asp1411Ter)
c.4156_7028del (p.Asp1386Ter)
c.4054_6926del (p.Asp1352Ter)
c.3685_6557del (p.Asp1229Ter)
 ClinVar
5g.112840151_112840163delCA645543948APCc.4611_4623del (p.Asp1537GlufsTer2)
c.*4563_*4575del (n.*4563_*4575del)
c.4503_4515del (p.Asp1501GlufsTer2)
c.4557_4569del (p.Asp1519GlufsTer2)
c.*3879_*3891del (n.*3879_*3891del)
c.230+11179_230+11191del
c.4587_4599del (p.Asp1529GlufsTer2)
c.4482_4494del (p.Asp1494GlufsTer2)
c.4473_4485del (p.Asp1491GlufsTer2)
c.4434_4446del (p.Asp1478GlufsTer2)
c.4380_4392del (p.Asp1460GlufsTer2)
c.4284_4296del (p.Asp1428GlufsTer2)
c.4254_4266del (p.Asp1418GlufsTer2)
c.4179_4191del (p.Asp1393GlufsTer2)
c.4077_4089del (p.Asp1359GlufsTer2)
c.3708_3720del (p.Asp1236GlufsTer2)
 COSMIC
5g.112840159_112840165delCA2580618017APCc.4619_4625del (p.Leu1540Ter)
c.*4571_*4577del (n.*4571_*4577del)
c.4511_4517del (p.Leu1504Ter)
c.4565_4571del (p.Leu1522Ter)
c.*3887_*3893del (n.*3887_*3893del)
c.230+11187_230+11193del
c.4595_4601del (p.Leu1532Ter)
c.4490_4496del (p.Leu1497Ter)
c.4481_4487del (p.Leu1494Ter)
c.4442_4448del (p.Leu1481Ter)
c.4388_4394del (p.Leu1463Ter)
c.4292_4298del (p.Leu1431Ter)
c.4262_4268del (p.Leu1421Ter)
c.4187_4193del (p.Leu1396Ter)
c.4085_4091del (p.Leu1362Ter)
c.3716_3722del (p.Leu1239Ter)
5g.112840158_112840175dupCA562217613APCc.4618_4635dup (p.Pro1545_Val1546insLeuArgIleMetProPro)
c.*4570_*4587dup (n.*4570_*4587dup)
c.4510_4527dup (p.Pro1509_Val1510insLeuArgIleMetProPro)
c.4564_4581dup (p.Pro1527_Val1528insLeuArgIleMetProPro)
c.*3886_*3903dup (n.*3886_*3903dup)
c.230+11186_230+11203dup
c.4594_4611dup (p.Pro1537_Val1538insLeuArgIleMetProPro)
c.4489_4506dup (p.Pro1502_Val1503insLeuArgIleMetProPro)
c.4480_4497dup (p.Pro1499_Val1500insLeuArgIleMetProPro)
c.4441_4458dup (p.Pro1486_Val1487insLeuArgIleMetProPro)
c.4387_4404dup (p.Pro1468_Val1469insLeuArgIleMetProPro)
c.4291_4308dup (p.Pro1436_Val1437insLeuArgIleMetProPro)
c.4261_4278dup (p.Pro1426_Val1427insLeuArgIleMetProPro)
c.4186_4203dup (p.Pro1401_Val1402insLeuArgIleMetProPro)
c.4084_4101dup (p.Pro1367_Val1368insLeuArgIleMetProPro)
c.3715_3732dup (p.Pro1244_Val1245insLeuArgIleMetProPro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840159_112840168delinsAATGCCTCCAGTTCACA2580618018APCc.4619_4628delinsAATGCCTCCAGTTCA (p.Leu1540Ter)
c.*4571_*4580delinsAATGCCTCCAGTTCA (n.*4571_*4580delinsAATGCCTCCAGTTCA)
c.4511_4520delinsAATGCCTCCAGTTCA (p.Leu1504Ter)
c.4565_4574delinsAATGCCTCCAGTTCA (p.Leu1522Ter)
c.*3887_*3896delinsAATGCCTCCAGTTCA (n.*3887_*3896delinsAATGCCTCCAGTTCA)
c.230+11187_230+11196delinsAATGCCTCCAGTTCA
c.4595_4604delinsAATGCCTCCAGTTCA (p.Leu1532Ter)
c.4490_4499delinsAATGCCTCCAGTTCA (p.Leu1497Ter)
c.4481_4490delinsAATGCCTCCAGTTCA (p.Leu1494Ter)
c.4442_4451delinsAATGCCTCCAGTTCA (p.Leu1481Ter)
c.4388_4397delinsAATGCCTCCAGTTCA (p.Leu1463Ter)
c.4292_4301delinsAATGCCTCCAGTTCA (p.Leu1431Ter)
c.4262_4271delinsAATGCCTCCAGTTCA (p.Leu1421Ter)
c.4187_4196delinsAATGCCTCCAGTTCA (p.Leu1396Ter)
c.4085_4094delinsAATGCCTCCAGTTCA (p.Leu1362Ter)
c.3716_3725delinsAATGCCTCCAGTTCA (p.Leu1239Ter)
5g.112840162_112840164delCA2739273278APCc.4622_4624del (p.Arg1541del)
c.*4574_*4576del (n.*4574_*4576del)
c.4514_4516del (p.Arg1505del)
c.4568_4570del (p.Arg1523del)
c.*3890_*3892del (n.*3890_*3892del)
c.230+11190_230+11192del
c.4598_4600del (p.Arg1533del)
c.4493_4495del (p.Arg1498del)
c.4484_4486del (p.Arg1495del)
c.4445_4447del (p.Arg1482del)
c.4391_4393del (p.Arg1464del)
c.4295_4297del (p.Arg1432del)
c.4265_4267del (p.Arg1422del)
c.4190_4192del (p.Arg1397del)
c.4088_4090del (p.Arg1363del)
c.3719_3721del (p.Arg1240del)
 ClinVar
5g.112840161_112840167delCA2695205290APCc.4621_4627del (p.Arg1541CysfsTer?)
c.*4573_*4579del (n.*4573_*4579del)
c.4513_4519del (p.Arg1505CysfsTer?)
c.4567_4573del (p.Arg1523CysfsTer?)
c.*3889_*3895del (n.*3889_*3895del)
c.230+11189_230+11195del
c.4597_4603del (p.Arg1533CysfsTer?)
c.4492_4498del (p.Arg1498CysfsTer?)
c.4483_4489del (p.Arg1495CysfsTer?)
c.4444_4450del (p.Arg1482CysfsTer?)
c.4390_4396del (p.Arg1464CysfsTer?)
c.4294_4300del (p.Arg1432CysfsTer?)
c.4264_4270del (p.Arg1422CysfsTer?)
c.4189_4195del (p.Arg1397CysfsTer?)
c.4087_4093del (p.Arg1363CysfsTer?)
c.3718_3724del (p.Arg1240CysfsTer?)
5g.112840162_112840166delCA2582341319APCc.4622_4626del (p.Arg1541AsnfsTer8)
c.*4574_*4578del (n.*4574_*4578del)
c.4514_4518del (p.Arg1505AsnfsTer8)
c.4568_4572del (p.Arg1523AsnfsTer8)
c.*3890_*3894del (n.*3890_*3894del)
c.230+11190_230+11194del
c.4598_4602del (p.Arg1533AsnfsTer8)
c.4493_4497del (p.Arg1498AsnfsTer8)
c.4484_4488del (p.Arg1495AsnfsTer8)
c.4445_4449del (p.Arg1482AsnfsTer8)
c.4391_4395del (p.Arg1464AsnfsTer8)
c.4295_4299del (p.Arg1432AsnfsTer8)
c.4265_4269del (p.Arg1422AsnfsTer8)
c.4190_4194del (p.Arg1397AsnfsTer8)
c.4088_4092del (p.Arg1363AsnfsTer8)
c.3719_3723del (p.Arg1240AsnfsTer8)
 ClinVar
5g.112840163A>CCA16031335APCc.4623A>C (p.Arg1541Ser)
c.*4575A>C (n.*4575A>C)
c.4515A>C (p.Arg1505Ser)
c.4569A>C (p.Arg1523Ser)
c.*3891A>C (n.*3891A>C)
c.230+11191A>C
c.4599A>C (p.Arg1533Ser)
c.4494A>C (p.Arg1498Ser)
c.4485A>C (p.Arg1495Ser)
c.4446A>C (p.Arg1482Ser)
c.4392A>C (p.Arg1464Ser)
c.4296A>C (p.Arg1432Ser)
c.4266A>C (p.Arg1422Ser)
c.4191A>C (p.Arg1397Ser)
c.4089A>C (p.Arg1363Ser)
c.3720A>C (p.Arg1240Ser)
5g.112840163A>GCA446206592APCc.4623A>G (p.Arg1541=)
c.*4575A>G (n.*4575A>G)
c.4515A>G (p.Arg1505=)
c.4569A>G (p.Arg1523=)
c.*3891A>G (n.*3891A>G)
c.230+11191A>G
c.4599A>G (p.Arg1533=)
c.4494A>G (p.Arg1498=)
c.4485A>G (p.Arg1495=)
c.4446A>G (p.Arg1482=)
c.4392A>G (p.Arg1464=)
c.4296A>G (p.Arg1432=)
c.4266A>G (p.Arg1422=)
c.4191A>G (p.Arg1397=)
c.4089A>G (p.Arg1363=)
c.3720A>G (p.Arg1240=)
 COSMIC
5g.112840163A>TCA16031336APCc.4623A>T (p.Arg1541Ser)
c.*4575A>T (n.*4575A>T)
c.4515A>T (p.Arg1505Ser)
c.4569A>T (p.Arg1523Ser)
c.*3891A>T (n.*3891A>T)
c.230+11191A>T
c.4599A>T (p.Arg1533Ser)
c.4494A>T (p.Arg1498Ser)
c.4485A>T (p.Arg1495Ser)
c.4446A>T (p.Arg1482Ser)
c.4392A>T (p.Arg1464Ser)
c.4296A>T (p.Arg1432Ser)
c.4266A>T (p.Arg1422Ser)
c.4191A>T (p.Arg1397Ser)
c.4089A>T (p.Arg1363Ser)
c.3720A>T (p.Arg1240Ser)
 dbSNP
5g.112840164delCA2695205291APCc.4624del (p.Ile1542Ter)
c.*4576del (n.*4576del)
c.4516del (p.Ile1506Ter)
c.4570del (p.Ile1524Ter)
c.*3892del (n.*3892del)
c.230+11192del
c.4600del (p.Ile1534Ter)
c.4495del (p.Ile1499Ter)
c.4486del (p.Ile1496Ter)
c.4447del (p.Ile1483Ter)
c.4393del (p.Ile1465Ter)
c.4297del (p.Ile1433Ter)
c.4267del (p.Ile1423Ter)
c.4192del (p.Ile1398Ter)
c.4090del (p.Ile1364Ter)
c.3721del (p.Ile1241Ter)
5g.112840163_112840164insGCA446206593APCc.4623_4624insG (p.Ile1542AspfsTer9)
c.*4575_*4576insG (n.*4575_*4576insG)
c.4515_4516insG (p.Ile1506AspfsTer9)
c.4569_4570insG (p.Ile1524AspfsTer9)
c.*3891_*3892insG (n.*3891_*3892insG)
c.230+11191_230+11192insG
c.4599_4600insG (p.Ile1534AspfsTer9)
c.4494_4495insG (p.Ile1499AspfsTer9)
c.4485_4486insG (p.Ile1496AspfsTer9)
c.4446_4447insG (p.Ile1483AspfsTer9)
c.4392_4393insG (p.Ile1465AspfsTer9)
c.4296_4297insG (p.Ile1433AspfsTer9)
c.4266_4267insG (p.Ile1423AspfsTer9)
c.4191_4192insG (p.Ile1398AspfsTer9)
c.4089_4090insG (p.Ile1364AspfsTer9)
c.3720_3721insG (p.Ile1241AspfsTer9)
5g.112840164A=CA1573469776APCc.4624A= (p.Ile1542=)
c.*4576A= (n.*4576A=)
c.4516A= (p.Ile1506=)
c.4570A= (p.Ile1524=)
c.*3892A= (n.*3892A=)
c.230+11192A=
c.4600A= (p.Ile1534=)
c.4495A= (p.Ile1499=)
c.4486A= (p.Ile1496=)
c.4447A= (p.Ile1483=)
c.4393A= (p.Ile1465=)
c.4297A= (p.Ile1433=)
c.4267A= (p.Ile1423=)
c.4192A= (p.Ile1398=)
c.4090A= (p.Ile1364=)
c.3721A= (p.Ile1241=)
5g.112840164A>CCA16031337APCc.4624A>C (p.Ile1542Leu)
c.*4576A>C (n.*4576A>C)
c.4516A>C (p.Ile1506Leu)
c.4570A>C (p.Ile1524Leu)
c.*3892A>C (n.*3892A>C)
c.230+11192A>C
c.4600A>C (p.Ile1534Leu)
c.4495A>C (p.Ile1499Leu)
c.4486A>C (p.Ile1496Leu)
c.4447A>C (p.Ile1483Leu)
c.4393A>C (p.Ile1465Leu)
c.4297A>C (p.Ile1433Leu)
c.4267A>C (p.Ile1423Leu)
c.4192A>C (p.Ile1398Leu)
c.4090A>C (p.Ile1364Leu)
c.3721A>C (p.Ile1241Leu)
 dbSNP
5g.112840164A>GCA16031338APCc.4624A>G (p.Ile1542Val)
c.*4576A>G (n.*4576A>G)
c.4516A>G (p.Ile1506Val)
c.4570A>G (p.Ile1524Val)
c.*3892A>G (n.*3892A>G)
c.230+11192A>G
c.4600A>G (p.Ile1534Val)
c.4495A>G (p.Ile1499Val)
c.4486A>G (p.Ile1496Val)
c.4447A>G (p.Ile1483Val)
c.4393A>G (p.Ile1465Val)
c.4297A>G (p.Ile1433Val)
c.4267A>G (p.Ile1423Val)
c.4192A>G (p.Ile1398Val)
c.4090A>G (p.Ile1364Val)
c.3721A>G (p.Ile1241Val)
 ClinVar dbSNP
5g.112840164A>TCA16031339APCc.4624A>T (p.Ile1542Leu)
c.*4576A>T (n.*4576A>T)
c.4516A>T (p.Ile1506Leu)
c.4570A>T (p.Ile1524Leu)
c.*3892A>T (n.*3892A>T)
c.230+11192A>T
c.4600A>T (p.Ile1534Leu)
c.4495A>T (p.Ile1499Leu)
c.4486A>T (p.Ile1496Leu)
c.4447A>T (p.Ile1483Leu)
c.4393A>T (p.Ile1465Leu)
c.4297A>T (p.Ile1433Leu)
c.4267A>T (p.Ile1423Leu)
c.4192A>T (p.Ile1398Leu)
c.4090A>T (p.Ile1364Leu)
c.3721A>T (p.Ile1241Leu)
 dbSNP
5g.112840164_112840170delCA658760746APCc.4624_4630del (p.Ile1542LeufsTer?)
c.*4576_*4582del (n.*4576_*4582del)
c.4516_4522del (p.Ile1506LeufsTer?)
c.4570_4576del (p.Ile1524LeufsTer?)
c.*3892_*3898del (n.*3892_*3898del)
c.230+11192_230+11198del
c.4600_4606del (p.Ile1534LeufsTer?)
c.4495_4501del (p.Ile1499LeufsTer?)
c.4486_4492del (p.Ile1496LeufsTer?)
c.4447_4453del (p.Ile1483LeufsTer?)
c.4393_4399del (p.Ile1465LeufsTer?)
c.4297_4303del (p.Ile1433LeufsTer?)
c.4267_4273del (p.Ile1423LeufsTer?)
c.4192_4198del (p.Ile1398LeufsTer?)
c.4090_4096del (p.Ile1364LeufsTer?)
c.3721_3727del (p.Ile1241LeufsTer?)
5g.112840165T>ACA16031340APCc.4625T>A (p.Ile1542Lys)
c.*4577T>A (n.*4577T>A)
c.4517T>A (p.Ile1506Lys)
c.4571T>A (p.Ile1524Lys)
c.*3893T>A (n.*3893T>A)
c.230+11193T>A
c.4601T>A (p.Ile1534Lys)
c.4496T>A (p.Ile1499Lys)
c.4487T>A (p.Ile1496Lys)
c.4448T>A (p.Ile1483Lys)
c.4394T>A (p.Ile1465Lys)
c.4298T>A (p.Ile1433Lys)
c.4268T>A (p.Ile1423Lys)
c.4193T>A (p.Ile1398Lys)
c.4091T>A (p.Ile1364Lys)
c.3722T>A (p.Ile1241Lys)
5g.112840165T>CCA16031341APCc.4625T>C (p.Ile1542Thr)
c.*4577T>C (n.*4577T>C)
c.4517T>C (p.Ile1506Thr)
c.4571T>C (p.Ile1524Thr)
c.*3893T>C (n.*3893T>C)
c.230+11193T>C
c.4601T>C (p.Ile1534Thr)
c.4496T>C (p.Ile1499Thr)
c.4487T>C (p.Ile1496Thr)
c.4448T>C (p.Ile1483Thr)
c.4394T>C (p.Ile1465Thr)
c.4298T>C (p.Ile1433Thr)
c.4268T>C (p.Ile1423Thr)
c.4193T>C (p.Ile1398Thr)
c.4091T>C (p.Ile1364Thr)
c.3722T>C (p.Ile1241Thr)
 dbSNP gnomAD v3 gnomAD v4
5g.112840165T>GCA339419APCc.4625T>G (p.Ile1542Arg)
c.*4577T>G (n.*4577T>G)
c.4517T>G (p.Ile1506Arg)
c.4571T>G (p.Ile1524Arg)
c.*3893T>G (n.*3893T>G)
c.230+11193T>G
c.4601T>G (p.Ile1534Arg)
c.4496T>G (p.Ile1499Arg)
c.4487T>G (p.Ile1496Arg)
c.4448T>G (p.Ile1483Arg)
c.4394T>G (p.Ile1465Arg)
c.4298T>G (p.Ile1433Arg)
c.4268T>G (p.Ile1423Arg)
c.4193T>G (p.Ile1398Arg)
c.4091T>G (p.Ile1364Arg)
c.3722T>G (p.Ile1241Arg)
 ClinVar dbSNP gnomAD v4
5g.112840165T=CA1573469794APCc.4625T= (p.Ile1542=)
c.*4577T= (n.*4577T=)
c.4517T= (p.Ile1506=)
c.4571T= (p.Ile1524=)
c.*3893T= (n.*3893T=)
c.230+11193T=
c.4601T= (p.Ile1534=)
c.4496T= (p.Ile1499=)
c.4487T= (p.Ile1496=)
c.4448T= (p.Ile1483=)
c.4394T= (p.Ile1465=)
c.4298T= (p.Ile1433=)
c.4268T= (p.Ile1423=)
c.4193T= (p.Ile1398=)
c.4091T= (p.Ile1364=)
c.3722T= (p.Ile1241=)
5g.112840166A>CCA446206594APCc.4626A>C (p.Ile1542=)
c.*4578A>C (n.*4578A>C)
c.4518A>C (p.Ile1506=)
c.4572A>C (p.Ile1524=)
c.*3894A>C (n.*3894A>C)
c.230+11194A>C
c.4602A>C (p.Ile1534=)
c.4497A>C (p.Ile1499=)
c.4488A>C (p.Ile1496=)
c.4449A>C (p.Ile1483=)
c.4395A>C (p.Ile1465=)
c.4299A>C (p.Ile1433=)
c.4269A>C (p.Ile1423=)
c.4194A>C (p.Ile1398=)
c.4092A>C (p.Ile1364=)
c.3723A>C (p.Ile1241=)
 dbSNP
5g.112840166A>GCA16031342APCc.4626A>G (p.Ile1542Met)
c.*4578A>G (n.*4578A>G)
c.4518A>G (p.Ile1506Met)
c.4572A>G (p.Ile1524Met)
c.*3894A>G (n.*3894A>G)
c.230+11194A>G
c.4602A>G (p.Ile1534Met)
c.4497A>G (p.Ile1499Met)
c.4488A>G (p.Ile1496Met)
c.4449A>G (p.Ile1483Met)
c.4395A>G (p.Ile1465Met)
c.4299A>G (p.Ile1433Met)
c.4269A>G (p.Ile1423Met)
c.4194A>G (p.Ile1398Met)
c.4092A>G (p.Ile1364Met)
c.3723A>G (p.Ile1241Met)
 ClinVar dbSNP
5g.112840166A>TCA446206595APCc.4626A>T (p.Ile1542=)
c.*4578A>T (n.*4578A>T)
c.4518A>T (p.Ile1506=)
c.4572A>T (p.Ile1524=)
c.*3894A>T (n.*3894A>T)
c.230+11194A>T
c.4602A>T (p.Ile1534=)
c.4497A>T (p.Ile1499=)
c.4488A>T (p.Ile1496=)
c.4449A>T (p.Ile1483=)
c.4395A>T (p.Ile1465=)
c.4299A>T (p.Ile1433=)
c.4269A>T (p.Ile1423=)
c.4194A>T (p.Ile1398=)
c.4092A>T (p.Ile1364=)
c.3723A>T (p.Ile1241=)
 dbSNP
5g.112840167A>CCA16031343APCc.4627A>C (p.Met1543Leu)
c.*4579A>C (n.*4579A>C)
c.4519A>C (p.Met1507Leu)
c.4573A>C (p.Met1525Leu)
c.*3895A>C (n.*3895A>C)
c.230+11195A>C
c.4603A>C (p.Met1535Leu)
c.4498A>C (p.Met1500Leu)
c.4489A>C (p.Met1497Leu)
c.4450A>C (p.Met1484Leu)
c.4396A>C (p.Met1466Leu)
c.4300A>C (p.Met1434Leu)
c.4270A>C (p.Met1424Leu)
c.4195A>C (p.Met1399Leu)
c.4093A>C (p.Met1365Leu)
c.3724A>C (p.Met1242Leu)
 dbSNP
5g.112840167A>GCA16031344APCc.4627A>G (p.Met1543Val)
c.*4579A>G (n.*4579A>G)
c.4519A>G (p.Met1507Val)
c.4573A>G (p.Met1525Val)
c.*3895A>G (n.*3895A>G)
c.230+11195A>G
c.4603A>G (p.Met1535Val)
c.4498A>G (p.Met1500Val)
c.4489A>G (p.Met1497Val)
c.4450A>G (p.Met1484Val)
c.4396A>G (p.Met1466Val)
c.4300A>G (p.Met1434Val)
c.4270A>G (p.Met1424Val)
c.4195A>G (p.Met1399Val)
c.4093A>G (p.Met1365Val)
c.3724A>G (p.Met1242Val)
 dbSNP
5g.112840167A>TCA16031345APCc.4627A>T (p.Met1543Leu)
c.*4579A>T (n.*4579A>T)
c.4519A>T (p.Met1507Leu)
c.4573A>T (p.Met1525Leu)
c.*3895A>T (n.*3895A>T)
c.230+11195A>T
c.4603A>T (p.Met1535Leu)
c.4498A>T (p.Met1500Leu)
c.4489A>T (p.Met1497Leu)
c.4450A>T (p.Met1484Leu)
c.4396A>T (p.Met1466Leu)
c.4300A>T (p.Met1434Leu)
c.4270A>T (p.Met1424Leu)
c.4195A>T (p.Met1399Leu)
c.4093A>T (p.Met1365Leu)
c.3724A>T (p.Met1242Leu)
 dbSNP
5g.112840168T>ACA16031346APCc.4628T>A (p.Met1543Lys)
c.*4580T>A (n.*4580T>A)
c.4520T>A (p.Met1507Lys)
c.4574T>A (p.Met1525Lys)
c.*3896T>A (n.*3896T>A)
c.230+11196T>A
c.4604T>A (p.Met1535Lys)
c.4499T>A (p.Met1500Lys)
c.4490T>A (p.Met1497Lys)
c.4451T>A (p.Met1484Lys)
c.4397T>A (p.Met1466Lys)
c.4301T>A (p.Met1434Lys)
c.4271T>A (p.Met1424Lys)
c.4196T>A (p.Met1399Lys)
c.4094T>A (p.Met1365Lys)
c.3725T>A (p.Met1242Lys)
 dbSNP
5g.112840168T>CCA16031347APCc.4628T>C (p.Met1543Thr)
c.*4580T>C (n.*4580T>C)
c.4520T>C (p.Met1507Thr)
c.4574T>C (p.Met1525Thr)
c.*3896T>C (n.*3896T>C)
c.230+11196T>C
c.4604T>C (p.Met1535Thr)
c.4499T>C (p.Met1500Thr)
c.4490T>C (p.Met1497Thr)
c.4451T>C (p.Met1484Thr)
c.4397T>C (p.Met1466Thr)
c.4301T>C (p.Met1434Thr)
c.4271T>C (p.Met1424Thr)
c.4196T>C (p.Met1399Thr)
c.4094T>C (p.Met1365Thr)
c.3725T>C (p.Met1242Thr)
 ClinVar dbSNP gnomAD v4
5g.112840168T>GCA16031348APCc.4628T>G (p.Met1543Arg)
c.*4580T>G (n.*4580T>G)
c.4520T>G (p.Met1507Arg)
c.4574T>G (p.Met1525Arg)
c.*3896T>G (n.*3896T>G)
c.230+11196T>G
c.4604T>G (p.Met1535Arg)
c.4499T>G (p.Met1500Arg)
c.4490T>G (p.Met1497Arg)
c.4451T>G (p.Met1484Arg)
c.4397T>G (p.Met1466Arg)
c.4301T>G (p.Met1434Arg)
c.4271T>G (p.Met1424Arg)
c.4196T>G (p.Met1399Arg)
c.4094T>G (p.Met1365Arg)
c.3725T>G (p.Met1242Arg)
 ClinVar dbSNP
5g.112840168T=CA1573469801APCc.4628T= (p.Met1543=)
c.*4580T= (n.*4580T=)
c.4520T= (p.Met1507=)
c.4574T= (p.Met1525=)
c.*3896T= (n.*3896T=)
c.230+11196T=
c.4604T= (p.Met1535=)
c.4499T= (p.Met1500=)
c.4490T= (p.Met1497=)
c.4451T= (p.Met1484=)
c.4397T= (p.Met1466=)
c.4301T= (p.Met1434=)
c.4271T= (p.Met1424=)
c.4196T= (p.Met1399=)
c.4094T= (p.Met1365=)
c.3725T= (p.Met1242=)
5g.112840168_112840169insACA645543952APCc.4628_4629insA (p.Met1543IlefsTer8)
c.*4580_*4581insA (n.*4580_*4581insA)
c.4520_4521insA (p.Met1507IlefsTer8)
c.4574_4575insA (p.Met1525IlefsTer8)
c.*3896_*3897insA (n.*3896_*3897insA)
c.230+11196_230+11197insA
c.4604_4605insA (p.Met1535IlefsTer8)
c.4499_4500insA (p.Met1500IlefsTer8)
c.4490_4491insA (p.Met1497IlefsTer8)
c.4451_4452insA (p.Met1484IlefsTer8)
c.4397_4398insA (p.Met1466IlefsTer8)
c.4301_4302insA (p.Met1434IlefsTer8)
c.4271_4272insA (p.Met1424IlefsTer8)
c.4196_4197insA (p.Met1399IlefsTer8)
c.4094_4095insA (p.Met1365IlefsTer8)
c.3725_3726insA (p.Met1242IlefsTer8)
 COSMIC
5g.112840169delCA645543951APCc.4629del (p.Met1543IlefsTer?)
c.*4581del (n.*4581del)
c.4521del (p.Met1507IlefsTer?)
c.4575del (p.Met1525IlefsTer?)
c.*3897del (n.*3897del)
c.230+11197del
c.4605del (p.Met1535IlefsTer?)
c.4500del (p.Met1500IlefsTer?)
c.4491del (p.Met1497IlefsTer?)
c.4452del (p.Met1484IlefsTer?)
c.4398del (p.Met1466IlefsTer?)
c.4302del (p.Met1434IlefsTer?)
c.4272del (p.Met1424IlefsTer?)
c.4197del (p.Met1399IlefsTer?)
c.4095del (p.Met1365IlefsTer?)
c.3726del (p.Met1242IlefsTer?)
 COSMIC
5g.112840169G>ACA16031349APCc.4629G>A (p.Met1543Ile)
c.*4581G>A (n.*4581G>A)
c.4521G>A (p.Met1507Ile)
c.4575G>A (p.Met1525Ile)
c.*3897G>A (n.*3897G>A)
c.230+11197G>A
c.4605G>A (p.Met1535Ile)
c.4500G>A (p.Met1500Ile)
c.4491G>A (p.Met1497Ile)
c.4452G>A (p.Met1484Ile)
c.4398G>A (p.Met1466Ile)
c.4302G>A (p.Met1434Ile)
c.4272G>A (p.Met1424Ile)
c.4197G>A (p.Met1399Ile)
c.4095G>A (p.Met1365Ile)
c.3726G>A (p.Met1242Ile)
 dbSNP
5g.112840169G>CCA16031350APCc.4629G>C (p.Met1543Ile)
c.*4581G>C (n.*4581G>C)
c.4521G>C (p.Met1507Ile)
c.4575G>C (p.Met1525Ile)
c.*3897G>C (n.*3897G>C)
c.230+11197G>C
c.4605G>C (p.Met1535Ile)
c.4500G>C (p.Met1500Ile)
c.4491G>C (p.Met1497Ile)
c.4452G>C (p.Met1484Ile)
c.4398G>C (p.Met1466Ile)
c.4302G>C (p.Met1434Ile)
c.4272G>C (p.Met1424Ile)
c.4197G>C (p.Met1399Ile)
c.4095G>C (p.Met1365Ile)
c.3726G>C (p.Met1242Ile)
 dbSNP
5g.112840169G>TCA16031351APCc.4629G>T (p.Met1543Ile)
c.*4581G>T (n.*4581G>T)
c.4521G>T (p.Met1507Ile)
c.4575G>T (p.Met1525Ile)
c.*3897G>T (n.*3897G>T)
c.230+11197G>T
c.4605G>T (p.Met1535Ile)
c.4500G>T (p.Met1500Ile)
c.4491G>T (p.Met1497Ile)
c.4452G>T (p.Met1484Ile)
c.4398G>T (p.Met1466Ile)
c.4302G>T (p.Met1434Ile)
c.4272G>T (p.Met1424Ile)
c.4197G>T (p.Met1399Ile)
c.4095G>T (p.Met1365Ile)
c.3726G>T (p.Met1242Ile)
 dbSNP
5g.112840169_112840172delinsGCCTCA1573469826APCc.4629_4632delinsGCCT (p.Met1543=)
c.*4581_*4584delinsGCCT (n.*4581_*4584delinsGCCT)
c.4521_4524delinsGCCT (p.Met1507=)
c.4575_4578delinsGCCT (p.Met1525=)
c.*3897_*3900delinsGCCT (n.*3897_*3900delinsGCCT)
c.230+11197_230+11200delinsGCCT
c.4605_4608delinsGCCT (p.Met1535=)
c.4500_4503delinsGCCT (p.Met1500=)
c.4491_4494delinsGCCT (p.Met1497=)
c.4452_4455delinsGCCT (p.Met1484=)
c.4398_4401delinsGCCT (p.Met1466=)
c.4302_4305delinsGCCT (p.Met1434=)
c.4272_4275delinsGCCT (p.Met1424=)
c.4197_4200delinsGCCT (p.Met1399=)
c.4095_4098delinsGCCT (p.Met1365=)
c.3726_3729delinsGCCT (p.Met1242=)
5g.112840169_112840170insACA446206596APCc.4629_4630insA (p.Pro1544ThrfsTer7)
c.*4581_*4582insA (n.*4581_*4582insA)
c.4521_4522insA (p.Pro1508ThrfsTer7)
c.4575_4576insA (p.Pro1526ThrfsTer7)
c.*3897_*3898insA (n.*3897_*3898insA)
c.230+11197_230+11198insA
c.4605_4606insA (p.Pro1536ThrfsTer7)
c.4500_4501insA (p.Pro1501ThrfsTer7)
c.4491_4492insA (p.Pro1498ThrfsTer7)
c.4452_4453insA (p.Pro1485ThrfsTer7)
c.4398_4399insA (p.Pro1467ThrfsTer7)
c.4302_4303insA (p.Pro1435ThrfsTer7)
c.4272_4273insA (p.Pro1425ThrfsTer7)
c.4197_4198insA (p.Pro1400ThrfsTer7)
c.4095_4096insA (p.Pro1366ThrfsTer7)
c.3726_3727insA (p.Pro1243ThrfsTer7)
5g.112840170C>ACA16031352APCc.4630C>A (p.Pro1544Thr)
c.*4582C>A (n.*4582C>A)
c.4522C>A (p.Pro1508Thr)
c.4576C>A (p.Pro1526Thr)
c.*3898C>A (n.*3898C>A)
c.230+11198C>A
c.4606C>A (p.Pro1536Thr)
c.4501C>A (p.Pro1501Thr)
c.4492C>A (p.Pro1498Thr)
c.4453C>A (p.Pro1485Thr)
c.4399C>A (p.Pro1467Thr)
c.4303C>A (p.Pro1435Thr)
c.4273C>A (p.Pro1425Thr)
c.4198C>A (p.Pro1400Thr)
c.4096C>A (p.Pro1366Thr)
c.3727C>A (p.Pro1243Thr)
 dbSNP
5g.112840170C=CA1573469852APCc.4630C= (p.Pro1544=)
c.*4582C= (n.*4582C=)
c.4522C= (p.Pro1508=)
c.4576C= (p.Pro1526=)
c.*3898C= (n.*3898C=)
c.230+11198C=
c.4606C= (p.Pro1536=)
c.4501C= (p.Pro1501=)
c.4492C= (p.Pro1498=)
c.4453C= (p.Pro1485=)
c.4399C= (p.Pro1467=)
c.4303C= (p.Pro1435=)
c.4273C= (p.Pro1425=)
c.4198C= (p.Pro1400=)
c.4096C= (p.Pro1366=)
c.3727C= (p.Pro1243=)
5g.112840170C>GCA16031353APCc.4630C>G (p.Pro1544Ala)
c.*4582C>G (n.*4582C>G)
c.4522C>G (p.Pro1508Ala)
c.4576C>G (p.Pro1526Ala)
c.*3898C>G (n.*3898C>G)
c.230+11198C>G
c.4606C>G (p.Pro1536Ala)
c.4501C>G (p.Pro1501Ala)
c.4492C>G (p.Pro1498Ala)
c.4453C>G (p.Pro1485Ala)
c.4399C>G (p.Pro1467Ala)
c.4303C>G (p.Pro1435Ala)
c.4273C>G (p.Pro1425Ala)
c.4198C>G (p.Pro1400Ala)
c.4096C>G (p.Pro1366Ala)
c.3727C>G (p.Pro1243Ala)
 dbSNP
5g.112840170C>TCA16031354APCc.4630C>T (p.Pro1544Ser)
c.*4582C>T (n.*4582C>T)
c.4522C>T (p.Pro1508Ser)
c.4576C>T (p.Pro1526Ser)
c.*3898C>T (n.*3898C>T)
c.230+11198C>T
c.4606C>T (p.Pro1536Ser)
c.4501C>T (p.Pro1501Ser)
c.4492C>T (p.Pro1498Ser)
c.4453C>T (p.Pro1485Ser)
c.4399C>T (p.Pro1467Ser)
c.4303C>T (p.Pro1435Ser)
c.4273C>T (p.Pro1425Ser)
c.4198C>T (p.Pro1400Ser)
c.4096C>T (p.Pro1366Ser)
c.3727C>T (p.Pro1243Ser)
 ClinVar dbSNP COSMIC
5g.112840172_112840174delCA658655946APCc.4632_4634del (p.Pro1545del)
c.*4584_*4586del (n.*4584_*4586del)
c.4524_4526del (p.Pro1509del)
c.4578_4580del (p.Pro1527del)
c.*3900_*3902del (n.*3900_*3902del)
c.230+11200_230+11202del
c.4608_4610del (p.Pro1537del)
c.4503_4505del (p.Pro1502del)
c.4494_4496del (p.Pro1499del)
c.4455_4457del (p.Pro1486del)
c.4401_4403del (p.Pro1468del)
c.4305_4307del (p.Pro1436del)
c.4275_4277del (p.Pro1426del)
c.4200_4202del (p.Pro1401del)
c.4098_4100del (p.Pro1367del)
c.3729_3731del (p.Pro1244del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840171C>ACA16031355APCc.4631C>A (p.Pro1544His)
c.*4583C>A (n.*4583C>A)
c.4523C>A (p.Pro1508His)
c.4577C>A (p.Pro1526His)
c.*3899C>A (n.*3899C>A)
c.230+11199C>A
c.4607C>A (p.Pro1536His)
c.4502C>A (p.Pro1501His)
c.4493C>A (p.Pro1498His)
c.4454C>A (p.Pro1485His)
c.4400C>A (p.Pro1467His)
c.4304C>A (p.Pro1435His)
c.4274C>A (p.Pro1425His)
c.4199C>A (p.Pro1400His)
c.4097C>A (p.Pro1366His)
c.3728C>A (p.Pro1243His)
 dbSNP
5g.112840171C=CA1573469869APCc.4631C= (p.Pro1544=)
c.*4583C= (n.*4583C=)
c.4523C= (p.Pro1508=)
c.4577C= (p.Pro1526=)
c.*3899C= (n.*3899C=)
c.230+11199C=
c.4607C= (p.Pro1536=)
c.4502C= (p.Pro1501=)
c.4493C= (p.Pro1498=)
c.4454C= (p.Pro1485=)
c.4400C= (p.Pro1467=)
c.4304C= (p.Pro1435=)
c.4274C= (p.Pro1425=)
c.4199C= (p.Pro1400=)
c.4097C= (p.Pro1366=)
c.3728C= (p.Pro1243=)
5g.112840171C>GCA16031356APCc.4631C>G (p.Pro1544Arg)
c.*4583C>G (n.*4583C>G)
c.4523C>G (p.Pro1508Arg)
c.4577C>G (p.Pro1526Arg)
c.*3899C>G (n.*3899C>G)
c.230+11199C>G
c.4607C>G (p.Pro1536Arg)
c.4502C>G (p.Pro1501Arg)
c.4493C>G (p.Pro1498Arg)
c.4454C>G (p.Pro1485Arg)
c.4400C>G (p.Pro1467Arg)
c.4304C>G (p.Pro1435Arg)
c.4274C>G (p.Pro1425Arg)
c.4199C>G (p.Pro1400Arg)
c.4097C>G (p.Pro1366Arg)
c.3728C>G (p.Pro1243Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840171C>TCA16031357APCc.4631C>T (p.Pro1544Leu)
c.*4583C>T (n.*4583C>T)
c.4523C>T (p.Pro1508Leu)
c.4577C>T (p.Pro1526Leu)
c.*3899C>T (n.*3899C>T)
c.230+11199C>T
c.4607C>T (p.Pro1536Leu)
c.4502C>T (p.Pro1501Leu)
c.4493C>T (p.Pro1498Leu)
c.4454C>T (p.Pro1485Leu)
c.4400C>T (p.Pro1467Leu)
c.4304C>T (p.Pro1435Leu)
c.4274C>T (p.Pro1425Leu)
c.4199C>T (p.Pro1400Leu)
c.4097C>T (p.Pro1366Leu)
c.3728C>T (p.Pro1243Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840172T>ACA446206597APCc.4632T>A (p.Pro1544=)
c.*4584T>A (n.*4584T>A)
c.4524T>A (p.Pro1508=)
c.4578T>A (p.Pro1526=)
c.*3900T>A (n.*3900T>A)
c.230+11200T>A
c.4608T>A (p.Pro1536=)
c.4503T>A (p.Pro1501=)
c.4494T>A (p.Pro1498=)
c.4455T>A (p.Pro1485=)
c.4401T>A (p.Pro1467=)
c.4305T>A (p.Pro1435=)
c.4275T>A (p.Pro1425=)
c.4200T>A (p.Pro1400=)
c.4098T>A (p.Pro1366=)
c.3729T>A (p.Pro1243=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840172T>CCA446206598APCc.4632T>C (p.Pro1544=)
c.*4584T>C (n.*4584T>C)
c.4524T>C (p.Pro1508=)
c.4578T>C (p.Pro1526=)
c.*3900T>C (n.*3900T>C)
c.230+11200T>C
c.4608T>C (p.Pro1536=)
c.4503T>C (p.Pro1501=)
c.4494T>C (p.Pro1498=)
c.4455T>C (p.Pro1485=)
c.4401T>C (p.Pro1467=)
c.4305T>C (p.Pro1435=)
c.4275T>C (p.Pro1425=)
c.4200T>C (p.Pro1400=)
c.4098T>C (p.Pro1366=)
c.3729T>C (p.Pro1243=)
5g.112840172T>GCA446206599APCc.4632T>G (p.Pro1544=)
c.*4584T>G (n.*4584T>G)
c.4524T>G (p.Pro1508=)
c.4578T>G (p.Pro1526=)
c.*3900T>G (n.*3900T>G)
c.230+11200T>G
c.4608T>G (p.Pro1536=)
c.4503T>G (p.Pro1501=)
c.4494T>G (p.Pro1498=)
c.4455T>G (p.Pro1485=)
c.4401T>G (p.Pro1467=)
c.4305T>G (p.Pro1435=)
c.4275T>G (p.Pro1425=)
c.4200T>G (p.Pro1400=)
c.4098T>G (p.Pro1366=)
c.3729T>G (p.Pro1243=)
5g.112840172T=CA1573469875APCc.4632T= (p.Pro1544=)
c.*4584T= (n.*4584T=)
c.4524T= (p.Pro1508=)
c.4578T= (p.Pro1526=)
c.*3900T= (n.*3900T=)
c.230+11200T=
c.4608T= (p.Pro1536=)
c.4503T= (p.Pro1501=)
c.4494T= (p.Pro1498=)
c.4455T= (p.Pro1485=)
c.4401T= (p.Pro1467=)
c.4305T= (p.Pro1435=)
c.4275T= (p.Pro1425=)
c.4200T= (p.Pro1400=)
c.4098T= (p.Pro1366=)
c.3729T= (p.Pro1243=)
5g.112840173C>ACA16031358APCc.4633C>A (p.Pro1545Thr)
c.*4585C>A (n.*4585C>A)
c.4525C>A (p.Pro1509Thr)
c.4579C>A (p.Pro1527Thr)
c.*3901C>A (n.*3901C>A)
c.230+11201C>A
c.4609C>A (p.Pro1537Thr)
c.4504C>A (p.Pro1502Thr)
c.4495C>A (p.Pro1499Thr)
c.4456C>A (p.Pro1486Thr)
c.4402C>A (p.Pro1468Thr)
c.4306C>A (p.Pro1436Thr)
c.4276C>A (p.Pro1426Thr)
c.4201C>A (p.Pro1401Thr)
c.4099C>A (p.Pro1367Thr)
c.3730C>A (p.Pro1244Thr)
 dbSNP
5g.112840173C>GCA16031359APCc.4633C>G (p.Pro1545Ala)
c.*4585C>G (n.*4585C>G)
c.4525C>G (p.Pro1509Ala)
c.4579C>G (p.Pro1527Ala)
c.*3901C>G (n.*3901C>G)
c.230+11201C>G
c.4609C>G (p.Pro1537Ala)
c.4504C>G (p.Pro1502Ala)
c.4495C>G (p.Pro1499Ala)
c.4456C>G (p.Pro1486Ala)
c.4402C>G (p.Pro1468Ala)
c.4306C>G (p.Pro1436Ala)
c.4276C>G (p.Pro1426Ala)
c.4201C>G (p.Pro1401Ala)
c.4099C>G (p.Pro1367Ala)
c.3730C>G (p.Pro1244Ala)
5g.112840173C>TCA16031360APCc.4633C>T (p.Pro1545Ser)
c.*4585C>T (n.*4585C>T)
c.4525C>T (p.Pro1509Ser)
c.4579C>T (p.Pro1527Ser)
c.*3901C>T (n.*3901C>T)
c.230+11201C>T
c.4609C>T (p.Pro1537Ser)
c.4504C>T (p.Pro1502Ser)
c.4495C>T (p.Pro1499Ser)
c.4456C>T (p.Pro1486Ser)
c.4402C>T (p.Pro1468Ser)
c.4306C>T (p.Pro1436Ser)
c.4276C>T (p.Pro1426Ser)
c.4201C>T (p.Pro1401Ser)
c.4099C>T (p.Pro1367Ser)
c.3730C>T (p.Pro1244Ser)
 dbSNP
5g.112840173_112840178delinsCCAGTTCA1573469882APCc.4633_4638delinsCCAGTT (p.Pro1545=)
c.*4585_*4590delinsCCAGTT (n.*4585_*4590delinsCCAGTT)
c.4525_4530delinsCCAGTT (p.Pro1509=)
c.4579_4584delinsCCAGTT (p.Pro1527=)
c.*3901_*3906delinsCCAGTT (n.*3901_*3906delinsCCAGTT)
c.230+11201_230+11206delinsCCAGTT
c.4609_4614delinsCCAGTT (p.Pro1537=)
c.4504_4509delinsCCAGTT (p.Pro1502=)
c.4495_4500delinsCCAGTT (p.Pro1499=)
c.4456_4461delinsCCAGTT (p.Pro1486=)
c.4402_4407delinsCCAGTT (p.Pro1468=)
c.4306_4311delinsCCAGTT (p.Pro1436=)
c.4276_4281delinsCCAGTT (p.Pro1426=)
c.4201_4206delinsCCAGTT (p.Pro1401=)
c.4099_4104delinsCCAGTT (p.Pro1367=)
c.3730_3735delinsCCAGTT (p.Pro1244=)
5g.112840174C>ACA16031361APCc.4634C>A (p.Pro1545Gln)
c.*4586C>A (n.*4586C>A)
c.4526C>A (p.Pro1509Gln)
c.4580C>A (p.Pro1527Gln)
c.*3902C>A (n.*3902C>A)
c.230+11202C>A
c.4610C>A (p.Pro1537Gln)
c.4505C>A (p.Pro1502Gln)
c.4496C>A (p.Pro1499Gln)
c.4457C>A (p.Pro1486Gln)
c.4403C>A (p.Pro1468Gln)
c.4307C>A (p.Pro1436Gln)
c.4277C>A (p.Pro1426Gln)
c.4202C>A (p.Pro1401Gln)
c.4100C>A (p.Pro1367Gln)
c.3731C>A (p.Pro1244Gln)
 dbSNP
5g.112840174C=CA1573469891APCc.4634C= (p.Pro1545=)
c.*4586C= (n.*4586C=)
c.4526C= (p.Pro1509=)
c.4580C= (p.Pro1527=)
c.*3902C= (n.*3902C=)
c.230+11202C=
c.4610C= (p.Pro1537=)
c.4505C= (p.Pro1502=)
c.4496C= (p.Pro1499=)
c.4457C= (p.Pro1486=)
c.4403C= (p.Pro1468=)
c.4307C= (p.Pro1436=)
c.4277C= (p.Pro1426=)
c.4202C= (p.Pro1401=)
c.4100C= (p.Pro1367=)
c.3731C= (p.Pro1244=)
5g.112840174C>GCA16031362APCc.4634C>G (p.Pro1545Arg)
c.*4586C>G (n.*4586C>G)
c.4526C>G (p.Pro1509Arg)
c.4580C>G (p.Pro1527Arg)
c.*3902C>G (n.*3902C>G)
c.230+11202C>G
c.4610C>G (p.Pro1537Arg)
c.4505C>G (p.Pro1502Arg)
c.4496C>G (p.Pro1499Arg)
c.4457C>G (p.Pro1486Arg)
c.4403C>G (p.Pro1468Arg)
c.4307C>G (p.Pro1436Arg)
c.4277C>G (p.Pro1426Arg)
c.4202C>G (p.Pro1401Arg)
c.4100C>G (p.Pro1367Arg)
c.3731C>G (p.Pro1244Arg)
 dbSNP
5g.112840174C>TCA039410APCc.4634C>T (p.Pro1545Leu)
c.*4586C>T (n.*4586C>T)
c.4526C>T (p.Pro1509Leu)
c.4580C>T (p.Pro1527Leu)
c.*3902C>T (n.*3902C>T)
c.230+11202C>T
c.4610C>T (p.Pro1537Leu)
c.4505C>T (p.Pro1502Leu)
c.4496C>T (p.Pro1499Leu)
c.4457C>T (p.Pro1486Leu)
c.4403C>T (p.Pro1468Leu)
c.4307C>T (p.Pro1436Leu)
c.4277C>T (p.Pro1426Leu)
c.4202C>T (p.Pro1401Leu)
c.4100C>T (p.Pro1367Leu)
c.3731C>T (p.Pro1244Leu)
 ClinVar dbSNP ExAC gnomAD v4
5g.112840177_112840181delCA915943494APCc.4637_4641del (p.Val1546GlyfsTer3)
c.*4589_*4593del (n.*4589_*4593del)
c.4529_4533del (p.Val1510GlyfsTer3)
c.4583_4587del (p.Val1528GlyfsTer3)
c.*3905_*3909del (n.*3905_*3909del)
c.230+11205_230+11209del
c.4613_4617del (p.Val1538GlyfsTer3)
c.4508_4512del (p.Val1503GlyfsTer3)
c.4499_4503del (p.Val1500GlyfsTer3)
c.4460_4464del (p.Val1487GlyfsTer3)
c.4406_4410del (p.Val1469GlyfsTer3)
c.4310_4314del (p.Val1437GlyfsTer3)
c.4280_4284del (p.Val1427GlyfsTer3)
c.4205_4209del (p.Val1402GlyfsTer3)
c.4103_4107del (p.Val1368GlyfsTer3)
c.3734_3738del (p.Val1245GlyfsTer3)
 ClinVar dbSNP
5g.112840175A>CCA446206600APCc.4635A>C (p.Pro1545=)
c.*4587A>C (n.*4587A>C)
c.4527A>C (p.Pro1509=)
c.4581A>C (p.Pro1527=)
c.*3903A>C (n.*3903A>C)
c.230+11203A>C
c.4611A>C (p.Pro1537=)
c.4506A>C (p.Pro1502=)
c.4497A>C (p.Pro1499=)
c.4458A>C (p.Pro1486=)
c.4404A>C (p.Pro1468=)
c.4308A>C (p.Pro1436=)
c.4278A>C (p.Pro1426=)
c.4203A>C (p.Pro1401=)
c.4101A>C (p.Pro1367=)
c.3732A>C (p.Pro1244=)
 ClinVar
5g.112840175A>GCA446206601APCc.4635A>G (p.Pro1545=)
c.*4587A>G (n.*4587A>G)
c.4527A>G (p.Pro1509=)
c.4581A>G (p.Pro1527=)
c.*3903A>G (n.*3903A>G)
c.230+11203A>G
c.4611A>G (p.Pro1537=)
c.4506A>G (p.Pro1502=)
c.4497A>G (p.Pro1499=)
c.4458A>G (p.Pro1486=)
c.4404A>G (p.Pro1468=)
c.4308A>G (p.Pro1436=)
c.4278A>G (p.Pro1426=)
c.4203A>G (p.Pro1401=)
c.4101A>G (p.Pro1367=)
c.3732A>G (p.Pro1244=)
 dbSNP
5g.112840175A>TCA446206602APCc.4635A>T (p.Pro1545=)
c.*4587A>T (n.*4587A>T)
c.4527A>T (p.Pro1509=)
c.4581A>T (p.Pro1527=)
c.*3903A>T (n.*3903A>T)
c.230+11203A>T
c.4611A>T (p.Pro1537=)
c.4506A>T (p.Pro1502=)
c.4497A>T (p.Pro1499=)
c.4458A>T (p.Pro1486=)
c.4404A>T (p.Pro1468=)
c.4308A>T (p.Pro1436=)
c.4278A>T (p.Pro1426=)
c.4203A>T (p.Pro1401=)
c.4101A>T (p.Pro1367=)
c.3732A>T (p.Pro1244=)
 dbSNP
5g.112840176G>ACA16031363APCc.4636G>A (p.Val1546Ile)
c.*4588G>A (n.*4588G>A)
c.4528G>A (p.Val1510Ile)
c.4582G>A (p.Val1528Ile)
c.*3904G>A (n.*3904G>A)
c.230+11204G>A
c.4612G>A (p.Val1538Ile)
c.4507G>A (p.Val1503Ile)
c.4498G>A (p.Val1500Ile)
c.4459G>A (p.Val1487Ile)
c.4405G>A (p.Val1469Ile)
c.4309G>A (p.Val1437Ile)
c.4279G>A (p.Val1427Ile)
c.4204G>A (p.Val1402Ile)
c.4102G>A (p.Val1368Ile)
c.3733G>A (p.Val1245Ile)
 dbSNP gnomAD v2
5g.112840176G>CCA16031364APCc.4636G>C (p.Val1546Leu)
c.*4588G>C (n.*4588G>C)
c.4528G>C (p.Val1510Leu)
c.4582G>C (p.Val1528Leu)
c.*3904G>C (n.*3904G>C)
c.230+11204G>C
c.4612G>C (p.Val1538Leu)
c.4507G>C (p.Val1503Leu)
c.4498G>C (p.Val1500Leu)
c.4459G>C (p.Val1487Leu)
c.4405G>C (p.Val1469Leu)
c.4309G>C (p.Val1437Leu)
c.4279G>C (p.Val1427Leu)
c.4204G>C (p.Val1402Leu)
c.4102G>C (p.Val1368Leu)
c.3733G>C (p.Val1245Leu)
 dbSNP
5g.112840176G=CA1573469902APCc.4636G= (p.Val1546=)
c.*4588G= (n.*4588G=)
c.4528G= (p.Val1510=)
c.4582G= (p.Val1528=)
c.*3904G= (n.*3904G=)
c.230+11204G=
c.4612G= (p.Val1538=)
c.4507G= (p.Val1503=)
c.4498G= (p.Val1500=)
c.4459G= (p.Val1487=)
c.4405G= (p.Val1469=)
c.4309G= (p.Val1437=)
c.4279G= (p.Val1427=)
c.4204G= (p.Val1402=)
c.4102G= (p.Val1368=)
c.3733G= (p.Val1245=)
5g.112840176G>TCA16031365APCc.4636G>T (p.Val1546Phe)
c.*4588G>T (n.*4588G>T)
c.4528G>T (p.Val1510Phe)
c.4582G>T (p.Val1528Phe)
c.*3904G>T (n.*3904G>T)
c.230+11204G>T
c.4612G>T (p.Val1538Phe)
c.4507G>T (p.Val1503Phe)
c.4498G>T (p.Val1500Phe)
c.4459G>T (p.Val1487Phe)
c.4405G>T (p.Val1469Phe)
c.4309G>T (p.Val1437Phe)
c.4279G>T (p.Val1427Phe)
c.4204G>T (p.Val1402Phe)
c.4102G>T (p.Val1368Phe)
c.3733G>T (p.Val1245Phe)
 dbSNP
5g.112840177T>ACA16031366APCc.4637T>A (p.Val1546Asp)
c.*4589T>A (n.*4589T>A)
c.4529T>A (p.Val1510Asp)
c.4583T>A (p.Val1528Asp)
c.*3905T>A (n.*3905T>A)
c.230+11205T>A
c.4613T>A (p.Val1538Asp)
c.4508T>A (p.Val1503Asp)
c.4499T>A (p.Val1500Asp)
c.4460T>A (p.Val1487Asp)
c.4406T>A (p.Val1469Asp)
c.4310T>A (p.Val1437Asp)
c.4280T>A (p.Val1427Asp)
c.4205T>A (p.Val1402Asp)
c.4103T>A (p.Val1368Asp)
c.3734T>A (p.Val1245Asp)
 dbSNP
5g.112840177T>CCA16031367APCc.4637T>C (p.Val1546Ala)
c.*4589T>C (n.*4589T>C)
c.4529T>C (p.Val1510Ala)
c.4583T>C (p.Val1528Ala)
c.*3905T>C (n.*3905T>C)
c.230+11205T>C
c.4613T>C (p.Val1538Ala)
c.4508T>C (p.Val1503Ala)
c.4499T>C (p.Val1500Ala)
c.4460T>C (p.Val1487Ala)
c.4406T>C (p.Val1469Ala)
c.4310T>C (p.Val1437Ala)
c.4280T>C (p.Val1427Ala)
c.4205T>C (p.Val1402Ala)
c.4103T>C (p.Val1368Ala)
c.3734T>C (p.Val1245Ala)
 ClinVar dbSNP
5g.112840177T>GCA16031368APCc.4637T>G (p.Val1546Gly)
c.*4589T>G (n.*4589T>G)
c.4529T>G (p.Val1510Gly)
c.4583T>G (p.Val1528Gly)
c.*3905T>G (n.*3905T>G)
c.230+11205T>G
c.4613T>G (p.Val1538Gly)
c.4508T>G (p.Val1503Gly)
c.4499T>G (p.Val1500Gly)
c.4460T>G (p.Val1487Gly)
c.4406T>G (p.Val1469Gly)
c.4310T>G (p.Val1437Gly)
c.4280T>G (p.Val1427Gly)
c.4205T>G (p.Val1402Gly)
c.4103T>G (p.Val1368Gly)
c.3734T>G (p.Val1245Gly)
 ClinVar dbSNP
5g.112840177T=CA1573469910APCc.4637T= (p.Val1546=)
c.*4589T= (n.*4589T=)
c.4529T= (p.Val1510=)
c.4583T= (p.Val1528=)
c.*3905T= (n.*3905T=)
c.230+11205T=
c.4613T= (p.Val1538=)
c.4508T= (p.Val1503=)
c.4499T= (p.Val1500=)
c.4460T= (p.Val1487=)
c.4406T= (p.Val1469=)
c.4310T= (p.Val1437=)
c.4280T= (p.Val1427=)
c.4205T= (p.Val1402=)
c.4103T= (p.Val1368=)
c.3734T= (p.Val1245=)
5g.112840178T>ACA446206603APCc.4638T>A (p.Val1546=)
c.*4590T>A (n.*4590T>A)
c.4530T>A (p.Val1510=)
c.4584T>A (p.Val1528=)
c.*3906T>A (n.*3906T>A)
c.230+11206T>A
c.4614T>A (p.Val1538=)
c.4509T>A (p.Val1503=)
c.4500T>A (p.Val1500=)
c.4461T>A (p.Val1487=)
c.4407T>A (p.Val1469=)
c.4311T>A (p.Val1437=)
c.4281T>A (p.Val1427=)
c.4206T>A (p.Val1402=)
c.4104T>A (p.Val1368=)
c.3735T>A (p.Val1245=)
 dbSNP
5g.112840178T>CCA446206604APCc.4638T>C (p.Val1546=)
c.*4590T>C (n.*4590T>C)
c.4530T>C (p.Val1510=)
c.4584T>C (p.Val1528=)
c.*3906T>C (n.*3906T>C)
c.230+11206T>C
c.4614T>C (p.Val1538=)
c.4509T>C (p.Val1503=)
c.4500T>C (p.Val1500=)
c.4461T>C (p.Val1487=)
c.4407T>C (p.Val1469=)
c.4311T>C (p.Val1437=)
c.4281T>C (p.Val1427=)
c.4206T>C (p.Val1402=)
c.4104T>C (p.Val1368=)
c.3735T>C (p.Val1245=)
5g.112840178T>GCA446206605APCc.4638T>G (p.Val1546=)
c.*4590T>G (n.*4590T>G)
c.4530T>G (p.Val1510=)
c.4584T>G (p.Val1528=)
c.*3906T>G (n.*3906T>G)
c.230+11206T>G
c.4614T>G (p.Val1538=)
c.4509T>G (p.Val1503=)
c.4500T>G (p.Val1500=)
c.4461T>G (p.Val1487=)
c.4407T>G (p.Val1469=)
c.4311T>G (p.Val1437=)
c.4281T>G (p.Val1427=)
c.4206T>G (p.Val1402=)
c.4104T>G (p.Val1368=)
c.3735T>G (p.Val1245=)
 dbSNP
5g.112840179C>ACA16031369APCc.4639C>A (p.Gln1547Lys)
c.*4591C>A (n.*4591C>A)
c.4531C>A (p.Gln1511Lys)
c.4585C>A (p.Gln1529Lys)
c.*3907C>A (n.*3907C>A)
c.230+11207C>A
c.4615C>A (p.Gln1539Lys)
c.4510C>A (p.Gln1504Lys)
c.4501C>A (p.Gln1501Lys)
c.4462C>A (p.Gln1488Lys)
c.4408C>A (p.Gln1470Lys)
c.4312C>A (p.Gln1438Lys)
c.4282C>A (p.Gln1428Lys)
c.4207C>A (p.Gln1403Lys)
c.4105C>A (p.Gln1369Lys)
c.3736C>A (p.Gln1246Lys)
 ClinVar dbSNP
5g.112840179C=CA1573469919APCc.4639C= (p.Gln1547=)
c.*4591C= (n.*4591C=)
c.4531C= (p.Gln1511=)
c.4585C= (p.Gln1529=)
c.*3907C= (n.*3907C=)
c.230+11207C=
c.4615C= (p.Gln1539=)
c.4510C= (p.Gln1504=)
c.4501C= (p.Gln1501=)
c.4462C= (p.Gln1488=)
c.4408C= (p.Gln1470=)
c.4312C= (p.Gln1438=)
c.4282C= (p.Gln1428=)
c.4207C= (p.Gln1403=)
c.4105C= (p.Gln1369=)
c.3736C= (p.Gln1246=)
5g.112840179C>GCA16031370APCc.4639C>G (p.Gln1547Glu)
c.*4591C>G (n.*4591C>G)
c.4531C>G (p.Gln1511Glu)
c.4585C>G (p.Gln1529Glu)
c.*3907C>G (n.*3907C>G)
c.230+11207C>G
c.4615C>G (p.Gln1539Glu)
c.4510C>G (p.Gln1504Glu)
c.4501C>G (p.Gln1501Glu)
c.4462C>G (p.Gln1488Glu)
c.4408C>G (p.Gln1470Glu)
c.4312C>G (p.Gln1438Glu)
c.4282C>G (p.Gln1428Glu)
c.4207C>G (p.Gln1403Glu)
c.4105C>G (p.Gln1369Glu)
c.3736C>G (p.Gln1246Glu)
 ClinVar dbSNP gnomAD v4
5g.112840179C>TCA16031371APCc.4639C>T (p.Gln1547Ter)
c.*4591C>T (n.*4591C>T)
c.4531C>T (p.Gln1511Ter)
c.4585C>T (p.Gln1529Ter)
c.*3907C>T (n.*3907C>T)
c.230+11207C>T
c.4615C>T (p.Gln1539Ter)
c.4510C>T (p.Gln1504Ter)
c.4501C>T (p.Gln1501Ter)
c.4462C>T (p.Gln1488Ter)
c.4408C>T (p.Gln1470Ter)
c.4312C>T (p.Gln1438Ter)
c.4282C>T (p.Gln1428Ter)
c.4207C>T (p.Gln1403Ter)
c.4105C>T (p.Gln1369Ter)
c.3736C>T (p.Gln1246Ter)
 ClinVar dbSNP COSMIC
5g.112840180A=CA1573469926APCc.4640A= (p.Gln1547=)
c.*4592A= (n.*4592A=)
c.4532A= (p.Gln1511=)
c.4586A= (p.Gln1529=)
c.*3908A= (n.*3908A=)
c.230+11208A=
c.4616A= (p.Gln1539=)
c.4511A= (p.Gln1504=)
c.4502A= (p.Gln1501=)
c.4463A= (p.Gln1488=)
c.4409A= (p.Gln1470=)
c.4313A= (p.Gln1438=)
c.4283A= (p.Gln1428=)
c.4208A= (p.Gln1403=)
c.4106A= (p.Gln1369=)
c.3737A= (p.Gln1246=)
5g.112840180A>CCA16031372APCc.4640A>C (p.Gln1547Pro)
c.*4592A>C (n.*4592A>C)
c.4532A>C (p.Gln1511Pro)
c.4586A>C (p.Gln1529Pro)
c.*3908A>C (n.*3908A>C)
c.230+11208A>C
c.4616A>C (p.Gln1539Pro)
c.4511A>C (p.Gln1504Pro)
c.4502A>C (p.Gln1501Pro)
c.4463A>C (p.Gln1488Pro)
c.4409A>C (p.Gln1470Pro)
c.4313A>C (p.Gln1438Pro)
c.4283A>C (p.Gln1428Pro)
c.4208A>C (p.Gln1403Pro)
c.4106A>C (p.Gln1369Pro)
c.3737A>C (p.Gln1246Pro)
5g.112840180A>GCA16031373APCc.4640A>G (p.Gln1547Arg)
c.*4592A>G (n.*4592A>G)
c.4532A>G (p.Gln1511Arg)
c.4586A>G (p.Gln1529Arg)
c.*3908A>G (n.*3908A>G)
c.230+11208A>G
c.4616A>G (p.Gln1539Arg)
c.4511A>G (p.Gln1504Arg)
c.4502A>G (p.Gln1501Arg)
c.4463A>G (p.Gln1488Arg)
c.4409A>G (p.Gln1470Arg)
c.4313A>G (p.Gln1438Arg)
c.4283A>G (p.Gln1428Arg)
c.4208A>G (p.Gln1403Arg)
c.4106A>G (p.Gln1369Arg)
c.3737A>G (p.Gln1246Arg)
 ClinVar dbSNP
5g.112840180A>TCA16031374APCc.4640A>T (p.Gln1547Leu)
c.*4592A>T (n.*4592A>T)
c.4532A>T (p.Gln1511Leu)
c.4586A>T (p.Gln1529Leu)
c.*3908A>T (n.*3908A>T)
c.230+11208A>T
c.4616A>T (p.Gln1539Leu)
c.4511A>T (p.Gln1504Leu)
c.4502A>T (p.Gln1501Leu)
c.4463A>T (p.Gln1488Leu)
c.4409A>T (p.Gln1470Leu)
c.4313A>T (p.Gln1438Leu)
c.4283A>T (p.Gln1428Leu)
c.4208A>T (p.Gln1403Leu)
c.4106A>T (p.Gln1369Leu)
c.3737A>T (p.Gln1246Leu)
 ClinVar
5g.112840181G>ACA446206606APCc.4641G>A (p.Gln1547=)
c.*4593G>A (n.*4593G>A)
c.4533G>A (p.Gln1511=)
c.4587G>A (p.Gln1529=)
c.*3909G>A (n.*3909G>A)
c.230+11209G>A
c.4617G>A (p.Gln1539=)
c.4512G>A (p.Gln1504=)
c.4503G>A (p.Gln1501=)
c.4464G>A (p.Gln1488=)
c.4410G>A (p.Gln1470=)
c.4314G>A (p.Gln1438=)
c.4284G>A (p.Gln1428=)
c.4209G>A (p.Gln1403=)
c.4107G>A (p.Gln1369=)
c.3738G>A (p.Gln1246=)
 ClinVar dbSNP gnomAD v4
5g.112840181G>CCA16031375APCc.4641G>C (p.Gln1547His)
c.*4593G>C (n.*4593G>C)
c.4533G>C (p.Gln1511His)
c.4587G>C (p.Gln1529His)
c.*3909G>C (n.*3909G>C)
c.230+11209G>C
c.4617G>C (p.Gln1539His)
c.4512G>C (p.Gln1504His)
c.4503G>C (p.Gln1501His)
c.4464G>C (p.Gln1488His)
c.4410G>C (p.Gln1470His)
c.4314G>C (p.Gln1438His)
c.4284G>C (p.Gln1428His)
c.4209G>C (p.Gln1403His)
c.4107G>C (p.Gln1369His)
c.3738G>C (p.Gln1246His)
 dbSNP
5g.112840181G>TCA16031376APCc.4641G>T (p.Gln1547His)
c.*4593G>T (n.*4593G>T)
c.4533G>T (p.Gln1511His)
c.4587G>T (p.Gln1529His)
c.*3909G>T (n.*3909G>T)
c.230+11209G>T
c.4617G>T (p.Gln1539His)
c.4512G>T (p.Gln1504His)
c.4503G>T (p.Gln1501His)
c.4464G>T (p.Gln1488His)
c.4410G>T (p.Gln1470His)
c.4314G>T (p.Gln1438His)
c.4284G>T (p.Gln1428His)
c.4209G>T (p.Gln1403His)
c.4107G>T (p.Gln1369His)
c.3738G>T (p.Gln1246His)
 dbSNP
5g.112840182delCA658760748APCc.4642del (p.Glu1548LysfsTer?)
c.*4594del (n.*4594del)
c.4534del (p.Glu1512LysfsTer?)
c.4588del (p.Glu1530LysfsTer?)
c.*3910del (n.*3910del)
c.230+11210del
c.4618del (p.Glu1540LysfsTer?)
c.4513del (p.Glu1505LysfsTer?)
c.4504del (p.Glu1502LysfsTer?)
c.4465del (p.Glu1489LysfsTer?)
c.4411del (p.Glu1471LysfsTer?)
c.4315del (p.Glu1439LysfsTer?)
c.4285del (p.Glu1429LysfsTer?)
c.4210del (p.Glu1404LysfsTer?)
c.4108del (p.Glu1370LysfsTer?)
c.3739del (p.Glu1247LysfsTer?)
5g.112840182G>ACA16031377APCc.4642G>A (p.Glu1548Lys)
c.*4594G>A (n.*4594G>A)
c.4534G>A (p.Glu1512Lys)
c.4588G>A (p.Glu1530Lys)
c.*3910G>A (n.*3910G>A)
c.230+11210G>A
c.4618G>A (p.Glu1540Lys)
c.4513G>A (p.Glu1505Lys)
c.4504G>A (p.Glu1502Lys)
c.4465G>A (p.Glu1489Lys)
c.4411G>A (p.Glu1471Lys)
c.4315G>A (p.Glu1439Lys)
c.4285G>A (p.Glu1429Lys)
c.4210G>A (p.Glu1404Lys)
c.4108G>A (p.Glu1370Lys)
c.3739G>A (p.Glu1247Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112840182G>CCA16031378APCc.4642G>C (p.Glu1548Gln)
c.*4594G>C (n.*4594G>C)
c.4534G>C (p.Glu1512Gln)
c.4588G>C (p.Glu1530Gln)
c.*3910G>C (n.*3910G>C)
c.230+11210G>C
c.4618G>C (p.Glu1540Gln)
c.4513G>C (p.Glu1505Gln)
c.4504G>C (p.Glu1502Gln)
c.4465G>C (p.Glu1489Gln)
c.4411G>C (p.Glu1471Gln)
c.4315G>C (p.Glu1439Gln)
c.4285G>C (p.Glu1429Gln)
c.4210G>C (p.Glu1404Gln)
c.4108G>C (p.Glu1370Gln)
c.3739G>C (p.Glu1247Gln)
 dbSNP
5g.112840182G=CA1573469944APCc.4642G= (p.Glu1548=)
c.*4594G= (n.*4594G=)
c.4534G= (p.Glu1512=)
c.4588G= (p.Glu1530=)
c.*3910G= (n.*3910G=)
c.230+11210G=
c.4618G= (p.Glu1540=)
c.4513G= (p.Glu1505=)
c.4504G= (p.Glu1502=)
c.4465G= (p.Glu1489=)
c.4411G= (p.Glu1471=)
c.4315G= (p.Glu1439=)
c.4285G= (p.Glu1429=)
c.4210G= (p.Glu1404=)
c.4108G= (p.Glu1370=)
c.3739G= (p.Glu1247=)
5g.112840182G>TCA16031379APCc.4642G>T (p.Glu1548Ter)
c.*4594G>T (n.*4594G>T)
c.4534G>T (p.Glu1512Ter)
c.4588G>T (p.Glu1530Ter)
c.*3910G>T (n.*3910G>T)
c.230+11210G>T
c.4618G>T (p.Glu1540Ter)
c.4513G>T (p.Glu1505Ter)
c.4504G>T (p.Glu1502Ter)
c.4465G>T (p.Glu1489Ter)
c.4411G>T (p.Glu1471Ter)
c.4315G>T (p.Glu1439Ter)
c.4285G>T (p.Glu1429Ter)
c.4210G>T (p.Glu1404Ter)
c.4108G>T (p.Glu1370Ter)
c.3739G>T (p.Glu1247Ter)
 ClinVar dbSNP COSMIC
5g.112840183A>CCA16031380APCc.4643A>C (p.Glu1548Ala)
c.*4595A>C (n.*4595A>C)
c.4535A>C (p.Glu1512Ala)
c.4589A>C (p.Glu1530Ala)
c.*3911A>C (n.*3911A>C)
c.230+11211A>C
c.4619A>C (p.Glu1540Ala)
c.4514A>C (p.Glu1505Ala)
c.4505A>C (p.Glu1502Ala)
c.4466A>C (p.Glu1489Ala)
c.4412A>C (p.Glu1471Ala)
c.4316A>C (p.Glu1439Ala)
c.4286A>C (p.Glu1429Ala)
c.4211A>C (p.Glu1404Ala)
c.4109A>C (p.Glu1370Ala)
c.3740A>C (p.Glu1247Ala)
 ClinVar
5g.112840183A>GCA16031381APCc.4643A>G (p.Glu1548Gly)
c.*4595A>G (n.*4595A>G)
c.4535A>G (p.Glu1512Gly)
c.4589A>G (p.Glu1530Gly)
c.*3911A>G (n.*3911A>G)
c.230+11211A>G
c.4619A>G (p.Glu1540Gly)
c.4514A>G (p.Glu1505Gly)
c.4505A>G (p.Glu1502Gly)
c.4466A>G (p.Glu1489Gly)
c.4412A>G (p.Glu1471Gly)
c.4316A>G (p.Glu1439Gly)
c.4286A>G (p.Glu1429Gly)
c.4211A>G (p.Glu1404Gly)
c.4109A>G (p.Glu1370Gly)
c.3740A>G (p.Glu1247Gly)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112840183A>TCA16031382APCc.4643A>T (p.Glu1548Val)
c.*4595A>T (n.*4595A>T)
c.4535A>T (p.Glu1512Val)
c.4589A>T (p.Glu1530Val)
c.*3911A>T (n.*3911A>T)
c.230+11211A>T
c.4619A>T (p.Glu1540Val)
c.4514A>T (p.Glu1505Val)
c.4505A>T (p.Glu1502Val)
c.4466A>T (p.Glu1489Val)
c.4412A>T (p.Glu1471Val)
c.4316A>T (p.Glu1439Val)
c.4286A>T (p.Glu1429Val)
c.4211A>T (p.Glu1404Val)
c.4109A>T (p.Glu1370Val)
c.3740A>T (p.Glu1247Val)
 dbSNP
5g.112840186dupCA446206608APCc.4646dup (p.Asn1549LysfsTer2)
c.*4598dup (n.*4598dup)
c.4538dup (p.Asn1513LysfsTer2)
c.4592dup (p.Asn1531LysfsTer2)
c.*3914dup (n.*3914dup)
c.230+11214dup
c.4622dup (p.Asn1541LysfsTer2)
c.4517dup (p.Asn1506LysfsTer2)
c.4508dup (p.Asn1503LysfsTer2)
c.4469dup (p.Asn1490LysfsTer2)
c.4415dup (p.Asn1472LysfsTer2)
c.4319dup (p.Asn1440LysfsTer2)
c.4289dup (p.Asn1430LysfsTer2)
c.4214dup (p.Asn1405LysfsTer2)
c.4112dup (p.Asn1371LysfsTer2)
c.3743dup (p.Asn1248LysfsTer2)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
5g.112840185_112840186dupCA2499217488APCc.4645_4646dup (p.Asn1549LysfsTer?)
c.*4597_*4598dup (n.*4597_*4598dup)
c.4537_4538dup (p.Asn1513LysfsTer?)
c.4591_4592dup (p.Asn1531LysfsTer?)
c.*3913_*3914dup (n.*3913_*3914dup)
c.230+11213_230+11214dup
c.4621_4622dup (p.Asn1541LysfsTer?)
c.4516_4517dup (p.Asn1506LysfsTer?)
c.4507_4508dup (p.Asn1503LysfsTer?)
c.4468_4469dup (p.Asn1490LysfsTer?)
c.4414_4415dup (p.Asn1472LysfsTer?)
c.4318_4319dup (p.Asn1440LysfsTer?)
c.4288_4289dup (p.Asn1430LysfsTer?)
c.4213_4214dup (p.Asn1405LysfsTer?)
c.4111_4112dup (p.Asn1371LysfsTer?)
c.3742_3743dup (p.Asn1248LysfsTer?)
 ClinVar dbSNP
5g.112840186delCA446206607APCc.4646del (p.Asn1549MetfsTer?)
c.*4598del (n.*4598del)
c.4538del (p.Asn1513MetfsTer?)
c.4592del (p.Asn1531MetfsTer?)
c.*3914del (n.*3914del)
c.230+11214del
c.4622del (p.Asn1541MetfsTer?)
c.4517del (p.Asn1506MetfsTer?)
c.4508del (p.Asn1503MetfsTer?)
c.4469del (p.Asn1490MetfsTer?)
c.4415del (p.Asn1472MetfsTer?)
c.4319del (p.Asn1440MetfsTer?)
c.4289del (p.Asn1430MetfsTer?)
c.4214del (p.Asn1405MetfsTer?)
c.4112del (p.Asn1371MetfsTer?)
c.3743del (p.Asn1248MetfsTer?)
 ClinVar COSMIC COSMIC
5g.112840183_112840184insGCA645543953APCc.4643_4644insG (p.Asn1549LysfsTer2)
c.*4595_*4596insG (n.*4595_*4596insG)
c.4535_4536insG (p.Asn1513LysfsTer2)
c.4589_4590insG (p.Asn1531LysfsTer2)
c.*3911_*3912insG (n.*3911_*3912insG)
c.230+11211_230+11212insG
c.4619_4620insG (p.Asn1541LysfsTer2)
c.4514_4515insG (p.Asn1506LysfsTer2)
c.4505_4506insG (p.Asn1503LysfsTer2)
c.4466_4467insG (p.Asn1490LysfsTer2)
c.4412_4413insG (p.Asn1472LysfsTer2)
c.4316_4317insG (p.Asn1440LysfsTer2)
c.4286_4287insG (p.Asn1430LysfsTer2)
c.4211_4212insG (p.Asn1405LysfsTer2)
c.4109_4110insG (p.Asn1371LysfsTer2)
c.3740_3741insG (p.Asn1248LysfsTer2)
 COSMIC
5g.112840184A=CA1573469966APCc.4644A= (p.Glu1548=)
c.*4596A= (n.*4596A=)
c.4536A= (p.Glu1512=)
c.4590A= (p.Glu1530=)
c.*3912A= (n.*3912A=)
c.230+11212A=
c.4620A= (p.Glu1540=)
c.4515A= (p.Glu1505=)
c.4506A= (p.Glu1502=)
c.4467A= (p.Glu1489=)
c.4413A= (p.Glu1471=)
c.4317A= (p.Glu1439=)
c.4287A= (p.Glu1429=)
c.4212A= (p.Glu1404=)
c.4110A= (p.Glu1370=)
c.3741A= (p.Glu1247=)
5g.112840184A>CCA16031383APCc.4644A>C (p.Glu1548Asp)
c.*4596A>C (n.*4596A>C)
c.4536A>C (p.Glu1512Asp)
c.4590A>C (p.Glu1530Asp)
c.*3912A>C (n.*3912A>C)
c.230+11212A>C
c.4620A>C (p.Glu1540Asp)
c.4515A>C (p.Glu1505Asp)
c.4506A>C (p.Glu1502Asp)
c.4467A>C (p.Glu1489Asp)
c.4413A>C (p.Glu1471Asp)
c.4317A>C (p.Glu1439Asp)
c.4287A>C (p.Glu1429Asp)
c.4212A>C (p.Glu1404Asp)
c.4110A>C (p.Glu1370Asp)
c.3741A>C (p.Glu1247Asp)
5g.112840184A>GCA446206609APCc.4644A>G (p.Glu1548=)
c.*4596A>G (n.*4596A>G)
c.4536A>G (p.Glu1512=)
c.4590A>G (p.Glu1530=)
c.*3912A>G (n.*3912A>G)
c.230+11212A>G
c.4620A>G (p.Glu1540=)
c.4515A>G (p.Glu1505=)
c.4506A>G (p.Glu1502=)
c.4467A>G (p.Glu1489=)
c.4413A>G (p.Glu1471=)
c.4317A>G (p.Glu1439=)
c.4287A>G (p.Glu1429=)
c.4212A>G (p.Glu1404=)
c.4110A>G (p.Glu1370=)
c.3741A>G (p.Glu1247=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840184A>TCA16031384APCc.4644A>T (p.Glu1548Asp)
c.*4596A>T (n.*4596A>T)
c.4536A>T (p.Glu1512Asp)
c.4590A>T (p.Glu1530Asp)
c.*3912A>T (n.*3912A>T)
c.230+11212A>T
c.4620A>T (p.Glu1540Asp)
c.4515A>T (p.Glu1505Asp)
c.4506A>T (p.Glu1502Asp)
c.4467A>T (p.Glu1489Asp)
c.4413A>T (p.Glu1471Asp)
c.4317A>T (p.Glu1439Asp)
c.4287A>T (p.Glu1429Asp)
c.4212A>T (p.Glu1404Asp)
c.4110A>T (p.Glu1370Asp)
c.3741A>T (p.Glu1247Asp)
 ClinVar dbSNP
5g.112840184_112840185insGCA446206610APCc.4644_4645insG (p.Asn1549GlufsTer2)
c.*4596_*4597insG (n.*4596_*4597insG)
c.4536_4537insG (p.Asn1513GlufsTer2)
c.4590_4591insG (p.Asn1531GlufsTer2)
c.*3912_*3913insG (n.*3912_*3913insG)
c.230+11212_230+11213insG
c.4620_4621insG (p.Asn1541GlufsTer2)
c.4515_4516insG (p.Asn1506GlufsTer2)
c.4506_4507insG (p.Asn1503GlufsTer2)
c.4467_4468insG (p.Asn1490GlufsTer2)
c.4413_4414insG (p.Asn1472GlufsTer2)
c.4317_4318insG (p.Asn1440GlufsTer2)
c.4287_4288insG (p.Asn1430GlufsTer2)
c.4212_4213insG (p.Asn1405GlufsTer2)
c.4110_4111insG (p.Asn1371GlufsTer2)
c.3741_3742insG (p.Asn1248GlufsTer2)
5g.112840185A=CA1573469990APCc.4645A= (p.Asn1549=)
c.*4597A= (n.*4597A=)
c.4537A= (p.Asn1513=)
c.4591A= (p.Asn1531=)
c.*3913A= (n.*3913A=)
c.230+11213A=
c.4621A= (p.Asn1541=)
c.4516A= (p.Asn1506=)
c.4507A= (p.Asn1503=)
c.4468A= (p.Asn1490=)
c.4414A= (p.Asn1472=)
c.4318A= (p.Asn1440=)
c.4288A= (p.Asn1430=)
c.4213A= (p.Asn1405=)
c.4111A= (p.Asn1371=)
c.3742A= (p.Asn1248=)
5g.112840185A>CCA16031385APCc.4645A>C (p.Asn1549His)
c.*4597A>C (n.*4597A>C)
c.4537A>C (p.Asn1513His)
c.4591A>C (p.Asn1531His)
c.*3913A>C (n.*3913A>C)
c.230+11213A>C
c.4621A>C (p.Asn1541His)
c.4516A>C (p.Asn1506His)
c.4507A>C (p.Asn1503His)
c.4468A>C (p.Asn1490His)
c.4414A>C (p.Asn1472His)
c.4318A>C (p.Asn1440His)
c.4288A>C (p.Asn1430His)
c.4213A>C (p.Asn1405His)
c.4111A>C (p.Asn1371His)
c.3742A>C (p.Asn1248His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840185A>GCA039436APCc.4645A>G (p.Asn1549Asp)
c.*4597A>G (n.*4597A>G)
c.4537A>G (p.Asn1513Asp)
c.4591A>G (p.Asn1531Asp)
c.*3913A>G (n.*3913A>G)
c.230+11213A>G
c.4621A>G (p.Asn1541Asp)
c.4516A>G (p.Asn1506Asp)
c.4507A>G (p.Asn1503Asp)
c.4468A>G (p.Asn1490Asp)
c.4414A>G (p.Asn1472Asp)
c.4318A>G (p.Asn1440Asp)
c.4288A>G (p.Asn1430Asp)
c.4213A>G (p.Asn1405Asp)
c.4111A>G (p.Asn1371Asp)
c.3742A>G (p.Asn1248Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840185A>TCA16031386APCc.4645A>T (p.Asn1549Tyr)
c.*4597A>T (n.*4597A>T)
c.4537A>T (p.Asn1513Tyr)
c.4591A>T (p.Asn1531Tyr)
c.*3913A>T (n.*3913A>T)
c.230+11213A>T
c.4621A>T (p.Asn1541Tyr)
c.4516A>T (p.Asn1506Tyr)
c.4507A>T (p.Asn1503Tyr)
c.4468A>T (p.Asn1490Tyr)
c.4414A>T (p.Asn1472Tyr)
c.4318A>T (p.Asn1440Tyr)
c.4288A>T (p.Asn1430Tyr)
c.4213A>T (p.Asn1405Tyr)
c.4111A>T (p.Asn1371Tyr)
c.3742A>T (p.Asn1248Tyr)
 dbSNP
5g.112840186A=CA1573470003APCc.4646A= (p.Asn1549=)
c.*4598A= (n.*4598A=)
c.4538A= (p.Asn1513=)
c.4592A= (p.Asn1531=)
c.*3914A= (n.*3914A=)
c.230+11214A=
c.4622A= (p.Asn1541=)
c.4517A= (p.Asn1506=)
c.4508A= (p.Asn1503=)
c.4469A= (p.Asn1490=)
c.4415A= (p.Asn1472=)
c.4319A= (p.Asn1440=)
c.4289A= (p.Asn1430=)
c.4214A= (p.Asn1405=)
c.4112A= (p.Asn1371=)
c.3743A= (p.Asn1248=)
5g.112840186A>CCA16031387APCc.4646A>C (p.Asn1549Thr)
c.*4598A>C (n.*4598A>C)
c.4538A>C (p.Asn1513Thr)
c.4592A>C (p.Asn1531Thr)
c.*3914A>C (n.*3914A>C)
c.230+11214A>C
c.4622A>C (p.Asn1541Thr)
c.4517A>C (p.Asn1506Thr)
c.4508A>C (p.Asn1503Thr)
c.4469A>C (p.Asn1490Thr)
c.4415A>C (p.Asn1472Thr)
c.4319A>C (p.Asn1440Thr)
c.4289A>C (p.Asn1430Thr)
c.4214A>C (p.Asn1405Thr)
c.4112A>C (p.Asn1371Thr)
c.3743A>C (p.Asn1248Thr)
5g.112840186A>GCA16031388APCc.4646A>G (p.Asn1549Ser)
c.*4598A>G (n.*4598A>G)
c.4538A>G (p.Asn1513Ser)
c.4592A>G (p.Asn1531Ser)
c.*3914A>G (n.*3914A>G)
c.230+11214A>G
c.4622A>G (p.Asn1541Ser)
c.4517A>G (p.Asn1506Ser)
c.4508A>G (p.Asn1503Ser)
c.4469A>G (p.Asn1490Ser)
c.4415A>G (p.Asn1472Ser)
c.4319A>G (p.Asn1440Ser)
c.4289A>G (p.Asn1430Ser)
c.4214A>G (p.Asn1405Ser)
c.4112A>G (p.Asn1371Ser)
c.3743A>G (p.Asn1248Ser)
 ClinVar dbSNP
5g.112840186A>TCA16031389APCc.4646A>T (p.Asn1549Ile)
c.*4598A>T (n.*4598A>T)
c.4538A>T (p.Asn1513Ile)
c.4592A>T (p.Asn1531Ile)
c.*3914A>T (n.*3914A>T)
c.230+11214A>T
c.4622A>T (p.Asn1541Ile)
c.4517A>T (p.Asn1506Ile)
c.4508A>T (p.Asn1503Ile)
c.4469A>T (p.Asn1490Ile)
c.4415A>T (p.Asn1472Ile)
c.4319A>T (p.Asn1440Ile)
c.4289A>T (p.Asn1430Ile)
c.4214A>T (p.Asn1405Ile)
c.4112A>T (p.Asn1371Ile)
c.3743A>T (p.Asn1248Ile)
 dbSNP gnomAD v4
5g.112840187T>ACA16031390APCc.4647T>A (p.Asn1549Lys)
c.*4599T>A (n.*4599T>A)
c.4539T>A (p.Asn1513Lys)
c.4593T>A (p.Asn1531Lys)
c.*3915T>A (n.*3915T>A)
c.230+11215T>A
c.4623T>A (p.Asn1541Lys)
c.4518T>A (p.Asn1506Lys)
c.4509T>A (p.Asn1503Lys)
c.4470T>A (p.Asn1490Lys)
c.4416T>A (p.Asn1472Lys)
c.4320T>A (p.Asn1440Lys)
c.4290T>A (p.Asn1430Lys)
c.4215T>A (p.Asn1405Lys)
c.4113T>A (p.Asn1371Lys)
c.3744T>A (p.Asn1248Lys)
 dbSNP
5g.112840187T>CCA446206611APCc.4647T>C (p.Asn1549=)
c.*4599T>C (n.*4599T>C)
c.4539T>C (p.Asn1513=)
c.4593T>C (p.Asn1531=)
c.*3915T>C (n.*3915T>C)
c.230+11215T>C
c.4623T>C (p.Asn1541=)
c.4518T>C (p.Asn1506=)
c.4509T>C (p.Asn1503=)
c.4470T>C (p.Asn1490=)
c.4416T>C (p.Asn1472=)
c.4320T>C (p.Asn1440=)
c.4290T>C (p.Asn1430=)
c.4215T>C (p.Asn1405=)
c.4113T>C (p.Asn1371=)
c.3744T>C (p.Asn1248=)
 dbSNP gnomAD v2 gnomAD v4
5g.112840187T>GCA16031391APCc.4647T>G (p.Asn1549Lys)
c.*4599T>G (n.*4599T>G)
c.4539T>G (p.Asn1513Lys)
c.4593T>G (p.Asn1531Lys)
c.*3915T>G (n.*3915T>G)
c.230+11215T>G
c.4623T>G (p.Asn1541Lys)
c.4518T>G (p.Asn1506Lys)
c.4509T>G (p.Asn1503Lys)
c.4470T>G (p.Asn1490Lys)
c.4416T>G (p.Asn1472Lys)
c.4320T>G (p.Asn1440Lys)
c.4290T>G (p.Asn1430Lys)
c.4215T>G (p.Asn1405Lys)
c.4113T>G (p.Asn1371Lys)
c.3744T>G (p.Asn1248Lys)
5g.112840187T=CA1573470006APCc.4647T= (p.Asn1549=)
c.*4599T= (n.*4599T=)
c.4539T= (p.Asn1513=)
c.4593T= (p.Asn1531=)
c.*3915T= (n.*3915T=)
c.230+11215T=
c.4623T= (p.Asn1541=)
c.4518T= (p.Asn1506=)
c.4509T= (p.Asn1503=)
c.4470T= (p.Asn1490=)
c.4416T= (p.Asn1472=)
c.4320T= (p.Asn1440=)
c.4290T= (p.Asn1430=)
c.4215T= (p.Asn1405=)
c.4113T= (p.Asn1371=)
c.3744T= (p.Asn1248=)
5g.112840187_112840188insACA446206612APCc.4647_4648insA (p.Asp1550ArgfsTer5)
c.*4599_*4600insA (n.*4599_*4600insA)
c.4539_4540insA (p.Asp1514ArgfsTer5)
c.4593_4594insA (p.Asp1532ArgfsTer5)
c.*3915_*3916insA (n.*3915_*3916insA)
c.230+11215_230+11216insA
c.4623_4624insA (p.Asp1542ArgfsTer5)
c.4518_4519insA (p.Asp1507ArgfsTer5)
c.4509_4510insA (p.Asp1504ArgfsTer5)
c.4470_4471insA (p.Asp1491ArgfsTer5)
c.4416_4417insA (p.Asp1473ArgfsTer5)
c.4320_4321insA (p.Asp1441ArgfsTer5)
c.4290_4291insA (p.Asp1431ArgfsTer5)
c.4215_4216insA (p.Asp1406ArgfsTer5)
c.4113_4114insA (p.Asp1372ArgfsTer5)
c.3744_3745insA (p.Asp1249ArgfsTer5)
5g.112840188delCA2582341323APCc.4648del (p.Asp1550ThrfsTer?)
c.*4600del (n.*4600del)
c.4540del (p.Asp1514ThrfsTer?)
c.4594del (p.Asp1532ThrfsTer?)
c.*3916del (n.*3916del)
c.230+11216del
c.4624del (p.Asp1542ThrfsTer?)
c.4519del (p.Asp1507ThrfsTer?)
c.4510del (p.Asp1504ThrfsTer?)
c.4471del (p.Asp1491ThrfsTer?)
c.4417del (p.Asp1473ThrfsTer?)
c.4321del (p.Asp1441ThrfsTer?)
c.4291del (p.Asp1431ThrfsTer?)
c.4216del (p.Asp1406ThrfsTer?)
c.4114del (p.Asp1372ThrfsTer?)
c.3745del (p.Asp1249ThrfsTer?)
 ClinVar
5g.112840188G>ACA009625APCc.4648G>A (p.Asp1550Asn)
c.*4600G>A (n.*4600G>A)
c.4540G>A (p.Asp1514Asn)
c.4594G>A (p.Asp1532Asn)
c.*3916G>A (n.*3916G>A)
c.230+11216G>A
c.4624G>A (p.Asp1542Asn)
c.4519G>A (p.Asp1507Asn)
c.4510G>A (p.Asp1504Asn)
c.4471G>A (p.Asp1491Asn)
c.4417G>A (p.Asp1473Asn)
c.4321G>A (p.Asp1441Asn)
c.4291G>A (p.Asp1431Asn)
c.4216G>A (p.Asp1406Asn)
c.4114G>A (p.Asp1372Asn)
c.3745G>A (p.Asp1249Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840188G>CCA16031392APCc.4648G>C (p.Asp1550His)
c.*4600G>C (n.*4600G>C)
c.4540G>C (p.Asp1514His)
c.4594G>C (p.Asp1532His)
c.*3916G>C (n.*3916G>C)
c.230+11216G>C
c.4624G>C (p.Asp1542His)
c.4519G>C (p.Asp1507His)
c.4510G>C (p.Asp1504His)
c.4471G>C (p.Asp1491His)
c.4417G>C (p.Asp1473His)
c.4321G>C (p.Asp1441His)
c.4291G>C (p.Asp1431His)
c.4216G>C (p.Asp1406His)
c.4114G>C (p.Asp1372His)
c.3745G>C (p.Asp1249His)
 dbSNP
5g.112840188G=CA1573470017APCc.4648G= (p.Asp1550=)
c.*4600G= (n.*4600G=)
c.4540G= (p.Asp1514=)
c.4594G= (p.Asp1532=)
c.*3916G= (n.*3916G=)
c.230+11216G=
c.4624G= (p.Asp1542=)
c.4519G= (p.Asp1507=)
c.4510G= (p.Asp1504=)
c.4471G= (p.Asp1491=)
c.4417G= (p.Asp1473=)
c.4321G= (p.Asp1441=)
c.4291G= (p.Asp1431=)
c.4216G= (p.Asp1406=)
c.4114G= (p.Asp1372=)
c.3745G= (p.Asp1249=)
5g.112840188G>TCA16031393APCc.4648G>T (p.Asp1550Tyr)
c.*4600G>T (n.*4600G>T)
c.4540G>T (p.Asp1514Tyr)
c.4594G>T (p.Asp1532Tyr)
c.*3916G>T (n.*3916G>T)
c.230+11216G>T
c.4624G>T (p.Asp1542Tyr)
c.4519G>T (p.Asp1507Tyr)
c.4510G>T (p.Asp1504Tyr)
c.4471G>T (p.Asp1491Tyr)
c.4417G>T (p.Asp1473Tyr)
c.4321G>T (p.Asp1441Tyr)
c.4291G>T (p.Asp1431Tyr)
c.4216G>T (p.Asp1406Tyr)
c.4114G>T (p.Asp1372Tyr)
c.3745G>T (p.Asp1249Tyr)
 ClinVar dbSNP
5g.112840189A=CA1573470042APCc.4649A= (p.Asp1550=)
c.*4601A= (n.*4601A=)
c.4541A= (p.Asp1514=)
c.4595A= (p.Asp1532=)
c.*3917A= (n.*3917A=)
c.230+11217A=
c.4625A= (p.Asp1542=)
c.4520A= (p.Asp1507=)
c.4511A= (p.Asp1504=)
c.4472A= (p.Asp1491=)
c.4418A= (p.Asp1473=)
c.4322A= (p.Asp1441=)
c.4292A= (p.Asp1431=)
c.4217A= (p.Asp1406=)
c.4115A= (p.Asp1372=)
c.3746A= (p.Asp1249=)
5g.112840189A>CCA16031394APCc.4649A>C (p.Asp1550Ala)
c.*4601A>C (n.*4601A>C)
c.4541A>C (p.Asp1514Ala)
c.4595A>C (p.Asp1532Ala)
c.*3917A>C (n.*3917A>C)
c.230+11217A>C
c.4625A>C (p.Asp1542Ala)
c.4520A>C (p.Asp1507Ala)
c.4511A>C (p.Asp1504Ala)
c.4472A>C (p.Asp1491Ala)
c.4418A>C (p.Asp1473Ala)
c.4322A>C (p.Asp1441Ala)
c.4292A>C (p.Asp1431Ala)
c.4217A>C (p.Asp1406Ala)
c.4115A>C (p.Asp1372Ala)
c.3746A>C (p.Asp1249Ala)
 ClinVar dbSNP gnomAD v4
5g.112840189A>GCA16031395APCc.4649A>G (p.Asp1550Gly)
c.*4601A>G (n.*4601A>G)
c.4541A>G (p.Asp1514Gly)
c.4595A>G (p.Asp1532Gly)
c.*3917A>G (n.*3917A>G)
c.230+11217A>G
c.4625A>G (p.Asp1542Gly)
c.4520A>G (p.Asp1507Gly)
c.4511A>G (p.Asp1504Gly)
c.4472A>G (p.Asp1491Gly)
c.4418A>G (p.Asp1473Gly)
c.4322A>G (p.Asp1441Gly)
c.4292A>G (p.Asp1431Gly)
c.4217A>G (p.Asp1406Gly)
c.4115A>G (p.Asp1372Gly)
c.3746A>G (p.Asp1249Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840189A>TCA16031396APCc.4649A>T (p.Asp1550Val)
c.*4601A>T (n.*4601A>T)
c.4541A>T (p.Asp1514Val)
c.4595A>T (p.Asp1532Val)
c.*3917A>T (n.*3917A>T)
c.230+11217A>T
c.4625A>T (p.Asp1542Val)
c.4520A>T (p.Asp1507Val)
c.4511A>T (p.Asp1504Val)
c.4472A>T (p.Asp1491Val)
c.4418A>T (p.Asp1473Val)
c.4322A>T (p.Asp1441Val)
c.4292A>T (p.Asp1431Val)
c.4217A>T (p.Asp1406Val)
c.4115A>T (p.Asp1372Val)
c.3746A>T (p.Asp1249Val)
 dbSNP
5g.112840190C>ACA16031397APCc.4650C>A (p.Asp1550Glu)
c.*4602C>A (n.*4602C>A)
c.4542C>A (p.Asp1514Glu)
c.4596C>A (p.Asp1532Glu)
c.*3918C>A (n.*3918C>A)
c.230+11218C>A
c.4626C>A (p.Asp1542Glu)
c.4521C>A (p.Asp1507Glu)
c.4512C>A (p.Asp1504Glu)
c.4473C>A (p.Asp1491Glu)
c.4419C>A (p.Asp1473Glu)
c.4323C>A (p.Asp1441Glu)
c.4293C>A (p.Asp1431Glu)
c.4218C>A (p.Asp1406Glu)
c.4116C>A (p.Asp1372Glu)
c.3747C>A (p.Asp1249Glu)
5g.112840190C>GCA16031398APCc.4650C>G (p.Asp1550Glu)
c.*4602C>G (n.*4602C>G)
c.4542C>G (p.Asp1514Glu)
c.4596C>G (p.Asp1532Glu)
c.*3918C>G (n.*3918C>G)
c.230+11218C>G
c.4626C>G (p.Asp1542Glu)
c.4521C>G (p.Asp1507Glu)
c.4512C>G (p.Asp1504Glu)
c.4473C>G (p.Asp1491Glu)
c.4419C>G (p.Asp1473Glu)
c.4323C>G (p.Asp1441Glu)
c.4293C>G (p.Asp1431Glu)
c.4218C>G (p.Asp1406Glu)
c.4116C>G (p.Asp1372Glu)
c.3747C>G (p.Asp1249Glu)
 ClinVar dbSNP
5g.112840190C>TCA446206613APCc.4650C>T (p.Asp1550=)
c.*4602C>T (n.*4602C>T)
c.4542C>T (p.Asp1514=)
c.4596C>T (p.Asp1532=)
c.*3918C>T (n.*3918C>T)
c.230+11218C>T
c.4626C>T (p.Asp1542=)
c.4521C>T (p.Asp1507=)
c.4512C>T (p.Asp1504=)
c.4473C>T (p.Asp1491=)
c.4419C>T (p.Asp1473=)
c.4323C>T (p.Asp1441=)
c.4293C>T (p.Asp1431=)
c.4218C>T (p.Asp1406=)
c.4116C>T (p.Asp1372=)
c.3747C>T (p.Asp1249=)
5g.112840190dupCA658760751APCc.4650dup (p.Asn1551GlnfsTer4)
c.*4602dup (n.*4602dup)
c.4542dup (p.Asn1515GlnfsTer4)
c.4596dup (p.Asn1533GlnfsTer4)
c.*3918dup (n.*3918dup)
c.230+11218dup
c.4626dup (p.Asn1543GlnfsTer4)
c.4521dup (p.Asn1508GlnfsTer4)
c.4512dup (p.Asn1505GlnfsTer4)
c.4473dup (p.Asn1492GlnfsTer4)
c.4419dup (p.Asn1474GlnfsTer4)
c.4323dup (p.Asn1442GlnfsTer4)
c.4293dup (p.Asn1432GlnfsTer4)
c.4218dup (p.Asn1407GlnfsTer4)
c.4116dup (p.Asn1373GlnfsTer4)
c.3747dup (p.Asn1250GlnfsTer4)
5g.112840190_112840191insTCA2695205292APCc.4650_4651insT (p.Asn1551Ter)
c.*4602_*4603insT (n.*4602_*4603insT)
c.4542_4543insT (p.Asn1515Ter)
c.4596_4597insT (p.Asn1533Ter)
c.*3918_*3919insT (n.*3918_*3919insT)
c.230+11218_230+11219insT
c.4626_4627insT (p.Asn1543Ter)
c.4521_4522insT (p.Asn1508Ter)
c.4512_4513insT (p.Asn1505Ter)
c.4473_4474insT (p.Asn1492Ter)
c.4419_4420insT (p.Asn1474Ter)
c.4323_4324insT (p.Asn1442Ter)
c.4293_4294insT (p.Asn1432Ter)
c.4218_4219insT (p.Asn1407Ter)
c.4116_4117insT (p.Asn1373Ter)
c.3747_3748insT (p.Asn1250Ter)
5g.112840191A=CA1573470057APCc.4651A= (p.Asn1551=)
c.*4603A= (n.*4603A=)
c.4543A= (p.Asn1515=)
c.4597A= (p.Asn1533=)
c.*3919A= (n.*3919A=)
c.230+11219A=
c.4627A= (p.Asn1543=)
c.4522A= (p.Asn1508=)
c.4513A= (p.Asn1505=)
c.4474A= (p.Asn1492=)
c.4420A= (p.Asn1474=)
c.4324A= (p.Asn1442=)
c.4294A= (p.Asn1432=)
c.4219A= (p.Asn1407=)
c.4117A= (p.Asn1373=)
c.3748A= (p.Asn1250=)
5g.112840191A>CCA16031399APCc.4651A>C (p.Asn1551His)
c.*4603A>C (n.*4603A>C)
c.4543A>C (p.Asn1515His)
c.4597A>C (p.Asn1533His)
c.*3919A>C (n.*3919A>C)
c.230+11219A>C
c.4627A>C (p.Asn1543His)
c.4522A>C (p.Asn1508His)
c.4513A>C (p.Asn1505His)
c.4474A>C (p.Asn1492His)
c.4420A>C (p.Asn1474His)
c.4324A>C (p.Asn1442His)
c.4294A>C (p.Asn1432His)
c.4219A>C (p.Asn1407His)
c.4117A>C (p.Asn1373His)
c.3748A>C (p.Asn1250His)
 ClinVar dbSNP
5g.112840191A>GCA009631APCc.4651A>G (p.Asn1551Asp)
c.*4603A>G (n.*4603A>G)
c.4543A>G (p.Asn1515Asp)
c.4597A>G (p.Asn1533Asp)
c.*3919A>G (n.*3919A>G)
c.230+11219A>G
c.4627A>G (p.Asn1543Asp)
c.4522A>G (p.Asn1508Asp)
c.4513A>G (p.Asn1505Asp)
c.4474A>G (p.Asn1492Asp)
c.4420A>G (p.Asn1474Asp)
c.4324A>G (p.Asn1442Asp)
c.4294A>G (p.Asn1432Asp)
c.4219A>G (p.Asn1407Asp)
c.4117A>G (p.Asn1373Asp)
c.3748A>G (p.Asn1250Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840191A>TCA16031400APCc.4651A>T (p.Asn1551Tyr)
c.*4603A>T (n.*4603A>T)
c.4543A>T (p.Asn1515Tyr)
c.4597A>T (p.Asn1533Tyr)
c.*3919A>T (n.*3919A>T)
c.230+11219A>T
c.4627A>T (p.Asn1543Tyr)
c.4522A>T (p.Asn1508Tyr)
c.4513A>T (p.Asn1505Tyr)
c.4474A>T (p.Asn1492Tyr)
c.4420A>T (p.Asn1474Tyr)
c.4324A>T (p.Asn1442Tyr)
c.4294A>T (p.Asn1432Tyr)
c.4219A>T (p.Asn1407Tyr)
c.4117A>T (p.Asn1373Tyr)
c.3748A>T (p.Asn1250Tyr)
 ClinVar dbSNP
5g.112840192delCA645543954APCc.4652del (p.Asn1551MetfsTer?)
c.*4604del (n.*4604del)
c.4544del (p.Asn1515MetfsTer?)
c.4598del (p.Asn1533MetfsTer?)
c.*3920del (n.*3920del)
c.230+11220del
c.4628del (p.Asn1543MetfsTer?)
c.4523del (p.Asn1508MetfsTer?)
c.4514del (p.Asn1505MetfsTer?)
c.4475del (p.Asn1492MetfsTer?)
c.4421del (p.Asn1474MetfsTer?)
c.4325del (p.Asn1442MetfsTer?)
c.4295del (p.Asn1432MetfsTer?)
c.4220del (p.Asn1407MetfsTer?)
c.4118del (p.Asn1373MetfsTer?)
c.3749del (p.Asn1250MetfsTer?)
 ClinVar dbSNP COSMIC
5g.112840192A=CA1573470065APCc.4652A= (p.Asn1551=)
c.*4604A= (n.*4604A=)
c.4544A= (p.Asn1515=)
c.4598A= (p.Asn1533=)
c.*3920A= (n.*3920A=)
c.230+11220A=
c.4628A= (p.Asn1543=)
c.4523A= (p.Asn1508=)
c.4514A= (p.Asn1505=)
c.4475A= (p.Asn1492=)
c.4421A= (p.Asn1474=)
c.4325A= (p.Asn1442=)
c.4295A= (p.Asn1432=)
c.4220A= (p.Asn1407=)
c.4118A= (p.Asn1373=)
c.3749A= (p.Asn1250=)
5g.112840192A>CCA16031401APCc.4652A>C (p.Asn1551Thr)
c.*4604A>C (n.*4604A>C)
c.4544A>C (p.Asn1515Thr)
c.4598A>C (p.Asn1533Thr)
c.*3920A>C (n.*3920A>C)
c.230+11220A>C
c.4628A>C (p.Asn1543Thr)
c.4523A>C (p.Asn1508Thr)
c.4514A>C (p.Asn1505Thr)
c.4475A>C (p.Asn1492Thr)
c.4421A>C (p.Asn1474Thr)
c.4325A>C (p.Asn1442Thr)
c.4295A>C (p.Asn1432Thr)
c.4220A>C (p.Asn1407Thr)
c.4118A>C (p.Asn1373Thr)
c.3749A>C (p.Asn1250Thr)
5g.112840192A>GCA16031402APCc.4652A>G (p.Asn1551Ser)
c.*4604A>G (n.*4604A>G)
c.4544A>G (p.Asn1515Ser)
c.4598A>G (p.Asn1533Ser)
c.*3920A>G (n.*3920A>G)
c.230+11220A>G
c.4628A>G (p.Asn1543Ser)
c.4523A>G (p.Asn1508Ser)
c.4514A>G (p.Asn1505Ser)
c.4475A>G (p.Asn1492Ser)
c.4421A>G (p.Asn1474Ser)
c.4325A>G (p.Asn1442Ser)
c.4295A>G (p.Asn1432Ser)
c.4220A>G (p.Asn1407Ser)
c.4118A>G (p.Asn1373Ser)
c.3749A>G (p.Asn1250Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840192A>TCA16031403APCc.4652A>T (p.Asn1551Ile)
c.*4604A>T (n.*4604A>T)
c.4544A>T (p.Asn1515Ile)
c.4598A>T (p.Asn1533Ile)
c.*3920A>T (n.*3920A>T)
c.230+11220A>T
c.4628A>T (p.Asn1543Ile)
c.4523A>T (p.Asn1508Ile)
c.4514A>T (p.Asn1505Ile)
c.4475A>T (p.Asn1492Ile)
c.4421A>T (p.Asn1474Ile)
c.4325A>T (p.Asn1442Ile)
c.4295A>T (p.Asn1432Ile)
c.4220A>T (p.Asn1407Ile)
c.4118A>T (p.Asn1373Ile)
c.3749A>T (p.Asn1250Ile)
5g.112840193delCA658760752APCc.4653del (p.Asn1551LysfsTer?)
c.*4605del (n.*4605del)
c.4545del (p.Asn1515LysfsTer?)
c.4599del (p.Asn1533LysfsTer?)
c.*3921del (n.*3921del)
c.230+11221del
c.4629del (p.Asn1543LysfsTer?)
c.4524del (p.Asn1508LysfsTer?)
c.4515del (p.Asn1505LysfsTer?)
c.4476del (p.Asn1492LysfsTer?)
c.4422del (p.Asn1474LysfsTer?)
c.4326del (p.Asn1442LysfsTer?)
c.4296del (p.Asn1432LysfsTer?)
c.4221del (p.Asn1407LysfsTer?)
c.4119del (p.Asn1373LysfsTer?)
c.3750del (p.Asn1250LysfsTer?)
5g.112840193T>ACA16031404APCc.4653T>A (p.Asn1551Lys)
c.*4605T>A (n.*4605T>A)
c.4545T>A (p.Asn1515Lys)
c.4599T>A (p.Asn1533Lys)
c.*3921T>A (n.*3921T>A)
c.230+11221T>A
c.4629T>A (p.Asn1543Lys)
c.4524T>A (p.Asn1508Lys)
c.4515T>A (p.Asn1505Lys)
c.4476T>A (p.Asn1492Lys)
c.4422T>A (p.Asn1474Lys)
c.4326T>A (p.Asn1442Lys)
c.4296T>A (p.Asn1432Lys)
c.4221T>A (p.Asn1407Lys)
c.4119T>A (p.Asn1373Lys)
c.3750T>A (p.Asn1250Lys)
5g.112840193T>CCA10578377APCc.4653T>C (p.Asn1551=)
c.*4605T>C (n.*4605T>C)
c.4545T>C (p.Asn1515=)
c.4599T>C (p.Asn1533=)
c.*3921T>C (n.*3921T>C)
c.230+11221T>C
c.4629T>C (p.Asn1543=)
c.4524T>C (p.Asn1508=)
c.4515T>C (p.Asn1505=)
c.4476T>C (p.Asn1492=)
c.4422T>C (p.Asn1474=)
c.4326T>C (p.Asn1442=)
c.4296T>C (p.Asn1432=)
c.4221T>C (p.Asn1407=)
c.4119T>C (p.Asn1373=)
c.3750T>C (p.Asn1250=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840193T>GCA16031405APCc.4653T>G (p.Asn1551Lys)
c.*4605T>G (n.*4605T>G)
c.4545T>G (p.Asn1515Lys)
c.4599T>G (p.Asn1533Lys)
c.*3921T>G (n.*3921T>G)
c.230+11221T>G
c.4629T>G (p.Asn1543Lys)
c.4524T>G (p.Asn1508Lys)
c.4515T>G (p.Asn1505Lys)
c.4476T>G (p.Asn1492Lys)
c.4422T>G (p.Asn1474Lys)
c.4326T>G (p.Asn1442Lys)
c.4296T>G (p.Asn1432Lys)
c.4221T>G (p.Asn1407Lys)
c.4119T>G (p.Asn1373Lys)
c.3750T>G (p.Asn1250Lys)
 ClinVar dbSNP
5g.112840193T=CA1573470070APCc.4653T= (p.Asn1551=)
c.*4605T= (n.*4605T=)
c.4545T= (p.Asn1515=)
c.4599T= (p.Asn1533=)
c.*3921T= (n.*3921T=)
c.230+11221T=
c.4629T= (p.Asn1543=)
c.4524T= (p.Asn1508=)
c.4515T= (p.Asn1505=)
c.4476T= (p.Asn1492=)
c.4422T= (p.Asn1474=)
c.4326T= (p.Asn1442=)
c.4296T= (p.Asn1432=)
c.4221T= (p.Asn1407=)
c.4119T= (p.Asn1373=)
c.3750T= (p.Asn1250=)
5g.112840194G>ACA16031406APCc.4654G>A (p.Gly1552Arg)
c.*4606G>A (n.*4606G>A)
c.4546G>A (p.Gly1516Arg)
c.4600G>A (p.Gly1534Arg)
c.*3922G>A (n.*3922G>A)
c.230+11222G>A
c.4630G>A (p.Gly1544Arg)
c.4525G>A (p.Gly1509Arg)
c.4516G>A (p.Gly1506Arg)
c.4477G>A (p.Gly1493Arg)
c.4423G>A (p.Gly1475Arg)
c.4327G>A (p.Gly1443Arg)
c.4297G>A (p.Gly1433Arg)
c.4222G>A (p.Gly1408Arg)
c.4120G>A (p.Gly1374Arg)
c.3751G>A (p.Gly1251Arg)
 ClinVar dbSNP COSMIC
5g.112840194G>CCA16031407APCc.4654G>C (p.Gly1552Arg)
c.*4606G>C (n.*4606G>C)
c.4546G>C (p.Gly1516Arg)
c.4600G>C (p.Gly1534Arg)
c.*3922G>C (n.*3922G>C)
c.230+11222G>C
c.4630G>C (p.Gly1544Arg)
c.4525G>C (p.Gly1509Arg)
c.4516G>C (p.Gly1506Arg)
c.4477G>C (p.Gly1493Arg)
c.4423G>C (p.Gly1475Arg)
c.4327G>C (p.Gly1443Arg)
c.4297G>C (p.Gly1433Arg)
c.4222G>C (p.Gly1408Arg)
c.4120G>C (p.Gly1374Arg)
c.3751G>C (p.Gly1251Arg)
 dbSNP
5g.112840194G>TCA16031408APCc.4654G>T (p.Gly1552Trp)
c.*4606G>T (n.*4606G>T)
c.4546G>T (p.Gly1516Trp)
c.4600G>T (p.Gly1534Trp)
c.*3922G>T (n.*3922G>T)
c.230+11222G>T
c.4630G>T (p.Gly1544Trp)
c.4525G>T (p.Gly1509Trp)
c.4516G>T (p.Gly1506Trp)
c.4477G>T (p.Gly1493Trp)
c.4423G>T (p.Gly1475Trp)
c.4327G>T (p.Gly1443Trp)
c.4297G>T (p.Gly1433Trp)
c.4222G>T (p.Gly1408Trp)
c.4120G>T (p.Gly1374Trp)
c.3751G>T (p.Gly1251Trp)
 dbSNP
5g.112840196delCA446206614APCc.4656del (p.Asn1553MetfsTer?)
c.*4608del (n.*4608del)
c.4548del (p.Asn1517MetfsTer?)
c.4602del (p.Asn1535MetfsTer?)
c.*3924del (n.*3924del)
c.230+11224del
c.4632del (p.Asn1545MetfsTer?)
c.4527del (p.Asn1510MetfsTer?)
c.4518del (p.Asn1507MetfsTer?)
c.4479del (p.Asn1494MetfsTer?)
c.4425del (p.Asn1476MetfsTer?)
c.4329del (p.Asn1444MetfsTer?)
c.4299del (p.Asn1434MetfsTer?)
c.4224del (p.Asn1409MetfsTer?)
c.4122del (p.Asn1375MetfsTer?)
c.3753del (p.Asn1252MetfsTer?)
 dbSNP COSMIC
5g.112840195G>ACA16031409APCc.4655G>A (p.Gly1552Glu)
c.*4607G>A (n.*4607G>A)
c.4547G>A (p.Gly1516Glu)
c.4601G>A (p.Gly1534Glu)
c.*3923G>A (n.*3923G>A)
c.230+11223G>A
c.4631G>A (p.Gly1544Glu)
c.4526G>A (p.Gly1509Glu)
c.4517G>A (p.Gly1506Glu)
c.4478G>A (p.Gly1493Glu)
c.4424G>A (p.Gly1475Glu)
c.4328G>A (p.Gly1443Glu)
c.4298G>A (p.Gly1433Glu)
c.4223G>A (p.Gly1408Glu)
c.4121G>A (p.Gly1374Glu)
c.3752G>A (p.Gly1251Glu)
 dbSNP COSMIC
5g.112840195G>CCA16031410APCc.4655G>C (p.Gly1552Ala)
c.*4607G>C (n.*4607G>C)
c.4547G>C (p.Gly1516Ala)
c.4601G>C (p.Gly1534Ala)
c.*3923G>C (n.*3923G>C)
c.230+11223G>C
c.4631G>C (p.Gly1544Ala)
c.4526G>C (p.Gly1509Ala)
c.4517G>C (p.Gly1506Ala)
c.4478G>C (p.Gly1493Ala)
c.4424G>C (p.Gly1475Ala)
c.4328G>C (p.Gly1443Ala)
c.4298G>C (p.Gly1433Ala)
c.4223G>C (p.Gly1408Ala)
c.4121G>C (p.Gly1374Ala)
c.3752G>C (p.Gly1251Ala)
 dbSNP
5g.112840195G=CA1573470077APCc.4655G= (p.Gly1552=)
c.*4607G= (n.*4607G=)
c.4547G= (p.Gly1516=)
c.4601G= (p.Gly1534=)
c.*3923G= (n.*3923G=)
c.230+11223G=
c.4631G= (p.Gly1544=)
c.4526G= (p.Gly1509=)
c.4517G= (p.Gly1506=)
c.4478G= (p.Gly1493=)
c.4424G= (p.Gly1475=)
c.4328G= (p.Gly1443=)
c.4298G= (p.Gly1433=)
c.4223G= (p.Gly1408=)
c.4121G= (p.Gly1374=)
c.3752G= (p.Gly1251=)
5g.112840195G>TCA16031411APCc.4655G>T (p.Gly1552Val)
c.*4607G>T (n.*4607G>T)
c.4547G>T (p.Gly1516Val)
c.4601G>T (p.Gly1534Val)
c.*3923G>T (n.*3923G>T)
c.230+11223G>T
c.4631G>T (p.Gly1544Val)
c.4526G>T (p.Gly1509Val)
c.4517G>T (p.Gly1506Val)
c.4478G>T (p.Gly1493Val)
c.4424G>T (p.Gly1475Val)
c.4328G>T (p.Gly1443Val)
c.4298G>T (p.Gly1433Val)
c.4223G>T (p.Gly1408Val)
c.4121G>T (p.Gly1374Val)
c.3752G>T (p.Gly1251Val)
 ClinVar dbSNP COSMIC
5g.112840195_112840202delCA645543955APCc.4655_4662del (p.Gly1552AspfsTer7)
c.*4607_*4614del (n.*4607_*4614del)
c.4547_4554del (p.Gly1516AspfsTer7)
c.4601_4608del (p.Gly1534AspfsTer7)
c.*3923_*3930del (n.*3923_*3930del)
c.230+11223_230+11230del
c.4631_4638del (p.Gly1544AspfsTer7)
c.4526_4533del (p.Gly1509AspfsTer7)
c.4517_4524del (p.Gly1506AspfsTer7)
c.4478_4485del (p.Gly1493AspfsTer7)
c.4424_4431del (p.Gly1475AspfsTer7)
c.4328_4335del (p.Gly1443AspfsTer7)
c.4298_4305del (p.Gly1433AspfsTer7)
c.4223_4230del (p.Gly1408AspfsTer7)
c.4121_4128del (p.Gly1374AspfsTer7)
c.3752_3759del (p.Gly1251AspfsTer7)
 COSMIC
5g.112840196G>ACA446206615APCc.4656G>A (p.Gly1552=)
c.*4608G>A (n.*4608G>A)
c.4548G>A (p.Gly1516=)
c.4602G>A (p.Gly1534=)
c.*3924G>A (n.*3924G>A)
c.230+11224G>A
c.4632G>A (p.Gly1544=)
c.4527G>A (p.Gly1509=)
c.4518G>A (p.Gly1506=)
c.4479G>A (p.Gly1493=)
c.4425G>A (p.Gly1475=)
c.4329G>A (p.Gly1443=)
c.4299G>A (p.Gly1433=)
c.4224G>A (p.Gly1408=)
c.4122G>A (p.Gly1374=)
c.3753G>A (p.Gly1251=)
 ClinVar dbSNP
5g.112840196G>CCA446206617APCc.4656G>C (p.Gly1552=)
c.*4608G>C (n.*4608G>C)
c.4548G>C (p.Gly1516=)
c.4602G>C (p.Gly1534=)
c.*3924G>C (n.*3924G>C)
c.230+11224G>C
c.4632G>C (p.Gly1544=)
c.4527G>C (p.Gly1509=)
c.4518G>C (p.Gly1506=)
c.4479G>C (p.Gly1493=)
c.4425G>C (p.Gly1475=)
c.4329G>C (p.Gly1443=)
c.4299G>C (p.Gly1433=)
c.4224G>C (p.Gly1408=)
c.4122G>C (p.Gly1374=)
c.3753G>C (p.Gly1251=)
 dbSNP
5g.112840196G=CA1573470086APCc.4656G= (p.Gly1552=)
c.*4608G= (n.*4608G=)
c.4548G= (p.Gly1516=)
c.4602G= (p.Gly1534=)
c.*3924G= (n.*3924G=)
c.230+11224G=
c.4632G= (p.Gly1544=)
c.4527G= (p.Gly1509=)
c.4518G= (p.Gly1506=)
c.4479G= (p.Gly1493=)
c.4425G= (p.Gly1475=)
c.4329G= (p.Gly1443=)
c.4299G= (p.Gly1433=)
c.4224G= (p.Gly1408=)
c.4122G= (p.Gly1374=)
c.3753G= (p.Gly1251=)
5g.112840196G>TCA446206616APCc.4656G>T (p.Gly1552=)
c.*4608G>T (n.*4608G>T)
c.4548G>T (p.Gly1516=)
c.4602G>T (p.Gly1534=)
c.*3924G>T (n.*3924G>T)
c.230+11224G>T
c.4632G>T (p.Gly1544=)
c.4527G>T (p.Gly1509=)
c.4518G>T (p.Gly1506=)
c.4479G>T (p.Gly1493=)
c.4425G>T (p.Gly1475=)
c.4329G>T (p.Gly1443=)
c.4299G>T (p.Gly1433=)
c.4224G>T (p.Gly1408=)
c.4122G>T (p.Gly1374=)
c.3753G>T (p.Gly1251=)
 dbSNP gnomAD v4
5g.112840197A=CA1573470096APCc.4657A= (p.Asn1553=)
c.*4609A= (n.*4609A=)
c.4549A= (p.Asn1517=)
c.4603A= (p.Asn1535=)
c.*3925A= (n.*3925A=)
c.230+11225A=
c.4633A= (p.Asn1545=)
c.4528A= (p.Asn1510=)
c.4519A= (p.Asn1507=)
c.4480A= (p.Asn1494=)
c.4426A= (p.Asn1476=)
c.4330A= (p.Asn1444=)
c.4300A= (p.Asn1434=)
c.4225A= (p.Asn1409=)
c.4123A= (p.Asn1375=)
c.3754A= (p.Asn1252=)
5g.112840197A>CCA16031412APCc.4657A>C (p.Asn1553His)
c.*4609A>C (n.*4609A>C)
c.4549A>C (p.Asn1517His)
c.4603A>C (p.Asn1535His)
c.*3925A>C (n.*3925A>C)
c.230+11225A>C
c.4633A>C (p.Asn1545His)
c.4528A>C (p.Asn1510His)
c.4519A>C (p.Asn1507His)
c.4480A>C (p.Asn1494His)
c.4426A>C (p.Asn1476His)
c.4330A>C (p.Asn1444His)
c.4300A>C (p.Asn1434His)
c.4225A>C (p.Asn1409His)
c.4123A>C (p.Asn1375His)
c.3754A>C (p.Asn1252His)
 ClinVar gnomAD v4
5g.112840197A>GCA16031413APCc.4657A>G (p.Asn1553Asp)
c.*4609A>G (n.*4609A>G)
c.4549A>G (p.Asn1517Asp)
c.4603A>G (p.Asn1535Asp)
c.*3925A>G (n.*3925A>G)
c.230+11225A>G
c.4633A>G (p.Asn1545Asp)
c.4528A>G (p.Asn1510Asp)
c.4519A>G (p.Asn1507Asp)
c.4480A>G (p.Asn1494Asp)
c.4426A>G (p.Asn1476Asp)
c.4330A>G (p.Asn1444Asp)
c.4300A>G (p.Asn1434Asp)
c.4225A>G (p.Asn1409Asp)
c.4123A>G (p.Asn1375Asp)
c.3754A>G (p.Asn1252Asp)
 ClinVar dbSNP
5g.112840197A>TCA16031414APCc.4657A>T (p.Asn1553Tyr)
c.*4609A>T (n.*4609A>T)
c.4549A>T (p.Asn1517Tyr)
c.4603A>T (p.Asn1535Tyr)
c.*3925A>T (n.*3925A>T)
c.230+11225A>T
c.4633A>T (p.Asn1545Tyr)
c.4528A>T (p.Asn1510Tyr)
c.4519A>T (p.Asn1507Tyr)
c.4480A>T (p.Asn1494Tyr)
c.4426A>T (p.Asn1476Tyr)
c.4330A>T (p.Asn1444Tyr)
c.4300A>T (p.Asn1434Tyr)
c.4225A>T (p.Asn1409Tyr)
c.4123A>T (p.Asn1375Tyr)
c.3754A>T (p.Asn1252Tyr)
 dbSNP
5g.112840198dupCA915943495APCc.4658dup (p.Asn1553LysfsTer2)
c.*4610dup (n.*4610dup)
c.4550dup (p.Asn1517LysfsTer2)
c.4604dup (p.Asn1535LysfsTer2)
c.*3926dup (n.*3926dup)
c.230+11226dup
c.4634dup (p.Asn1545LysfsTer2)
c.4529dup (p.Asn1510LysfsTer2)
c.4520dup (p.Asn1507LysfsTer2)
c.4481dup (p.Asn1494LysfsTer2)
c.4427dup (p.Asn1476LysfsTer2)
c.4331dup (p.Asn1444LysfsTer2)
c.4301dup (p.Asn1434LysfsTer2)
c.4226dup (p.Asn1409LysfsTer2)
c.4124dup (p.Asn1375LysfsTer2)
c.3755dup (p.Asn1252LysfsTer2)
 ClinVar dbSNP
5g.112840198A=CA1573470110APCc.4658A= (p.Asn1553=)
c.*4610A= (n.*4610A=)
c.4550A= (p.Asn1517=)
c.4604A= (p.Asn1535=)
c.*3926A= (n.*3926A=)
c.230+11226A=
c.4634A= (p.Asn1545=)
c.4529A= (p.Asn1510=)
c.4520A= (p.Asn1507=)
c.4481A= (p.Asn1494=)
c.4427A= (p.Asn1476=)
c.4331A= (p.Asn1444=)
c.4301A= (p.Asn1434=)
c.4226A= (p.Asn1409=)
c.4124A= (p.Asn1375=)
c.3755A= (p.Asn1252=)
5g.112840198A>CCA16031415APCc.4658A>C (p.Asn1553Thr)
c.*4610A>C (n.*4610A>C)
c.4550A>C (p.Asn1517Thr)
c.4604A>C (p.Asn1535Thr)
c.*3926A>C (n.*3926A>C)
c.230+11226A>C
c.4634A>C (p.Asn1545Thr)
c.4529A>C (p.Asn1510Thr)
c.4520A>C (p.Asn1507Thr)
c.4481A>C (p.Asn1494Thr)
c.4427A>C (p.Asn1476Thr)
c.4331A>C (p.Asn1444Thr)
c.4301A>C (p.Asn1434Thr)
c.4226A>C (p.Asn1409Thr)
c.4124A>C (p.Asn1375Thr)
c.3755A>C (p.Asn1252Thr)
5g.112840198A>GCA16031416APCc.4658A>G (p.Asn1553Ser)
c.*4610A>G (n.*4610A>G)
c.4550A>G (p.Asn1517Ser)
c.4604A>G (p.Asn1535Ser)
c.*3926A>G (n.*3926A>G)
c.230+11226A>G
c.4634A>G (p.Asn1545Ser)
c.4529A>G (p.Asn1510Ser)
c.4520A>G (p.Asn1507Ser)
c.4481A>G (p.Asn1494Ser)
c.4427A>G (p.Asn1476Ser)
c.4331A>G (p.Asn1444Ser)
c.4301A>G (p.Asn1434Ser)
c.4226A>G (p.Asn1409Ser)
c.4124A>G (p.Asn1375Ser)
c.3755A>G (p.Asn1252Ser)
 ClinVar dbSNP
5g.112840198A>TCA16031417APCc.4658A>T (p.Asn1553Ile)
c.*4610A>T (n.*4610A>T)
c.4550A>T (p.Asn1517Ile)
c.4604A>T (p.Asn1535Ile)
c.*3926A>T (n.*3926A>T)
c.230+11226A>T
c.4634A>T (p.Asn1545Ile)
c.4529A>T (p.Asn1510Ile)
c.4520A>T (p.Asn1507Ile)
c.4481A>T (p.Asn1494Ile)
c.4427A>T (p.Asn1476Ile)
c.4331A>T (p.Asn1444Ile)
c.4301A>T (p.Asn1434Ile)
c.4226A>T (p.Asn1409Ile)
c.4124A>T (p.Asn1375Ile)
c.3755A>T (p.Asn1252Ile)
 dbSNP
5g.112840199T>ACA16031418APCc.4659T>A (p.Asn1553Lys)
c.*4611T>A (n.*4611T>A)
c.4551T>A (p.Asn1517Lys)
c.4605T>A (p.Asn1535Lys)
c.*3927T>A (n.*3927T>A)
c.230+11227T>A
c.4635T>A (p.Asn1545Lys)
c.4530T>A (p.Asn1510Lys)
c.4521T>A (p.Asn1507Lys)
c.4482T>A (p.Asn1494Lys)
c.4428T>A (p.Asn1476Lys)
c.4332T>A (p.Asn1444Lys)
c.4302T>A (p.Asn1434Lys)
c.4227T>A (p.Asn1409Lys)
c.4125T>A (p.Asn1375Lys)
c.3756T>A (p.Asn1252Lys)
 ClinVar
5g.112840199T>CCA446206618APCc.4659T>C (p.Asn1553=)
c.*4611T>C (n.*4611T>C)
c.4551T>C (p.Asn1517=)
c.4605T>C (p.Asn1535=)
c.*3927T>C (n.*3927T>C)
c.230+11227T>C
c.4635T>C (p.Asn1545=)
c.4530T>C (p.Asn1510=)
c.4521T>C (p.Asn1507=)
c.4482T>C (p.Asn1494=)
c.4428T>C (p.Asn1476=)
c.4332T>C (p.Asn1444=)
c.4302T>C (p.Asn1434=)
c.4227T>C (p.Asn1409=)
c.4125T>C (p.Asn1375=)
c.3756T>C (p.Asn1252=)
5g.112840199T>GCA16031419APCc.4659T>G (p.Asn1553Lys)
c.*4611T>G (n.*4611T>G)
c.4551T>G (p.Asn1517Lys)
c.4605T>G (p.Asn1535Lys)
c.*3927T>G (n.*3927T>G)
c.230+11227T>G
c.4635T>G (p.Asn1545Lys)
c.4530T>G (p.Asn1510Lys)
c.4521T>G (p.Asn1507Lys)
c.4482T>G (p.Asn1494Lys)
c.4428T>G (p.Asn1476Lys)
c.4332T>G (p.Asn1444Lys)
c.4302T>G (p.Asn1434Lys)
c.4227T>G (p.Asn1409Lys)
c.4125T>G (p.Asn1375Lys)
c.3756T>G (p.Asn1252Lys)
5g.112840200G>ACA16031420APCc.4660G>A (p.Glu1554Lys)
c.*4612G>A (n.*4612G>A)
c.4552G>A (p.Glu1518Lys)
c.4606G>A (p.Glu1536Lys)
c.*3928G>A (n.*3928G>A)
c.230+11228G>A
c.4636G>A (p.Glu1546Lys)
c.4531G>A (p.Glu1511Lys)
c.4522G>A (p.Glu1508Lys)
c.4483G>A (p.Glu1495Lys)
c.4429G>A (p.Glu1477Lys)
c.4333G>A (p.Glu1445Lys)
c.4303G>A (p.Glu1435Lys)
c.4228G>A (p.Glu1410Lys)
c.4126G>A (p.Glu1376Lys)
c.3757G>A (p.Glu1253Lys)
 ClinVar dbSNP gnomAD v4
5g.112840200G>CCA16031421APCc.4660G>C (p.Glu1554Gln)
c.*4612G>C (n.*4612G>C)
c.4552G>C (p.Glu1518Gln)
c.4606G>C (p.Glu1536Gln)
c.*3928G>C (n.*3928G>C)
c.230+11228G>C
c.4636G>C (p.Glu1546Gln)
c.4531G>C (p.Glu1511Gln)
c.4522G>C (p.Glu1508Gln)
c.4483G>C (p.Glu1495Gln)
c.4429G>C (p.Glu1477Gln)
c.4333G>C (p.Glu1445Gln)
c.4303G>C (p.Glu1435Gln)
c.4228G>C (p.Glu1410Gln)
c.4126G>C (p.Glu1376Gln)
c.3757G>C (p.Glu1253Gln)
5g.112840200G=CA1573470117APCc.4660G= (p.Glu1554=)
c.*4612G= (n.*4612G=)
c.4552G= (p.Glu1518=)
c.4606G= (p.Glu1536=)
c.*3928G= (n.*3928G=)
c.230+11228G=
c.4636G= (p.Glu1546=)
c.4531G= (p.Glu1511=)
c.4522G= (p.Glu1508=)
c.4483G= (p.Glu1495=)
c.4429G= (p.Glu1477=)
c.4333G= (p.Glu1445=)
c.4303G= (p.Glu1435=)
c.4228G= (p.Glu1410=)
c.4126G= (p.Glu1376=)
c.3757G= (p.Glu1253=)
5g.112840200G>TCA16031422APCc.4660G>T (p.Glu1554Ter)
c.*4612G>T (n.*4612G>T)
c.4552G>T (p.Glu1518Ter)
c.4606G>T (p.Glu1536Ter)
c.*3928G>T (n.*3928G>T)
c.230+11228G>T
c.4636G>T (p.Glu1546Ter)
c.4531G>T (p.Glu1511Ter)
c.4522G>T (p.Glu1508Ter)
c.4483G>T (p.Glu1495Ter)
c.4429G>T (p.Glu1477Ter)
c.4333G>T (p.Glu1445Ter)
c.4303G>T (p.Glu1435Ter)
c.4228G>T (p.Glu1410Ter)
c.4126G>T (p.Glu1376Ter)
c.3757G>T (p.Glu1253Ter)
 ClinVar dbSNP COSMIC
5g.112840201A>CCA16031423APCc.4661A>C (p.Glu1554Ala)
c.*4613A>C (n.*4613A>C)
c.4553A>C (p.Glu1518Ala)
c.4607A>C (p.Glu1536Ala)
c.*3929A>C (n.*3929A>C)
c.230+11229A>C
c.4637A>C (p.Glu1546Ala)
c.4532A>C (p.Glu1511Ala)
c.4523A>C (p.Glu1508Ala)
c.4484A>C (p.Glu1495Ala)
c.4430A>C (p.Glu1477Ala)
c.4334A>C (p.Glu1445Ala)
c.4304A>C (p.Glu1435Ala)
c.4229A>C (p.Glu1410Ala)
c.4127A>C (p.Glu1376Ala)
c.3758A>C (p.Glu1253Ala)
 dbSNP
5g.112840201A>GCA16031424APCc.4661A>G (p.Glu1554Gly)
c.*4613A>G (n.*4613A>G)
c.4553A>G (p.Glu1518Gly)
c.4607A>G (p.Glu1536Gly)
c.*3929A>G (n.*3929A>G)
c.230+11229A>G
c.4637A>G (p.Glu1546Gly)
c.4532A>G (p.Glu1511Gly)
c.4523A>G (p.Glu1508Gly)
c.4484A>G (p.Glu1495Gly)
c.4430A>G (p.Glu1477Gly)
c.4334A>G (p.Glu1445Gly)
c.4304A>G (p.Glu1435Gly)
c.4229A>G (p.Glu1410Gly)
c.4127A>G (p.Glu1376Gly)
c.3758A>G (p.Glu1253Gly)
5g.112840201A>TCA16031425APCc.4661A>T (p.Glu1554Val)
c.*4613A>T (n.*4613A>T)
c.4553A>T (p.Glu1518Val)
c.4607A>T (p.Glu1536Val)
c.*3929A>T (n.*3929A>T)
c.230+11229A>T
c.4637A>T (p.Glu1546Val)
c.4532A>T (p.Glu1511Val)
c.4523A>T (p.Glu1508Val)
c.4484A>T (p.Glu1495Val)
c.4430A>T (p.Glu1477Val)
c.4334A>T (p.Glu1445Val)
c.4304A>T (p.Glu1435Val)
c.4229A>T (p.Glu1410Val)
c.4127A>T (p.Glu1376Val)
c.3758A>T (p.Glu1253Val)
 dbSNP
5g.112840203dupCA916079909APCc.4663dup (p.Thr1555AsnfsTer7)
c.*4615dup (n.*4615dup)
c.4555dup (p.Thr1519AsnfsTer7)
c.4609dup (p.Thr1537AsnfsTer7)
c.*3931dup (n.*3931dup)
c.230+11231dup
c.4639dup (p.Thr1547AsnfsTer7)
c.4534dup (p.Thr1512AsnfsTer7)
c.4525dup (p.Thr1509AsnfsTer7)
c.4486dup (p.Thr1496AsnfsTer7)
c.4432dup (p.Thr1478AsnfsTer7)
c.4336dup (p.Thr1446AsnfsTer7)
c.4306dup (p.Thr1436AsnfsTer7)
c.4231dup (p.Thr1411AsnfsTer7)
c.4129dup (p.Thr1377AsnfsTer7)
c.3760dup (p.Thr1254AsnfsTer7)
 ClinVar dbSNP
5g.112840203delCA658760754APCc.4663del (p.Thr1555GlnfsTer28)
c.*4615del (n.*4615del)
c.4555del (p.Thr1519GlnfsTer28)
c.4609del (p.Thr1537GlnfsTer28)
c.*3931del (n.*3931del)
c.230+11231del
c.4639del (p.Thr1547GlnfsTer28)
c.4534del (p.Thr1512GlnfsTer28)
c.4525del (p.Thr1509GlnfsTer28)
c.4486del (p.Thr1496GlnfsTer28)
c.4432del (p.Thr1478GlnfsTer28)
c.4336del (p.Thr1446GlnfsTer28)
c.4306del (p.Thr1436GlnfsTer28)
c.4231del (p.Thr1411GlnfsTer28)
c.4129del (p.Thr1377GlnfsTer28)
c.3760del (p.Thr1254GlnfsTer28)
5g.112840202_112840208delCA2695205293APCc.4662_4668del (p.Glu1554AspfsTer27)
c.*4614_*4620del (n.*4614_*4620del)
c.4554_4560del (p.Glu1518AspfsTer27)
c.4608_4614del (p.Glu1536AspfsTer27)
c.*3930_*3936del (n.*3930_*3936del)
c.230+11230_230+11236del
c.4638_4644del (p.Glu1546AspfsTer27)
c.4533_4539del (p.Glu1511AspfsTer27)
c.4524_4530del (p.Glu1508AspfsTer27)
c.4485_4491del (p.Glu1495AspfsTer27)
c.4431_4437del (p.Glu1477AspfsTer27)
c.4335_4341del (p.Glu1445AspfsTer27)
c.4305_4311del (p.Glu1435AspfsTer27)
c.4230_4236del (p.Glu1410AspfsTer27)
c.4128_4134del (p.Glu1376AspfsTer27)
c.3759_3765del (p.Glu1253AspfsTer27)
5g.112840202A=CA1573470135APCc.4662A= (p.Glu1554=)
c.*4614A= (n.*4614A=)
c.4554A= (p.Glu1518=)
c.4608A= (p.Glu1536=)
c.*3930A= (n.*3930A=)
c.230+11230A=
c.4638A= (p.Glu1546=)
c.4533A= (p.Glu1511=)
c.4524A= (p.Glu1508=)
c.4485A= (p.Glu1495=)
c.4431A= (p.Glu1477=)
c.4335A= (p.Glu1445=)
c.4305A= (p.Glu1435=)
c.4230A= (p.Glu1410=)
c.4128A= (p.Glu1376=)
c.3759A= (p.Glu1253=)
5g.112840202A>CCA16031426APCc.4662A>C (p.Glu1554Asp)
c.*4614A>C (n.*4614A>C)
c.4554A>C (p.Glu1518Asp)
c.4608A>C (p.Glu1536Asp)
c.*3930A>C (n.*3930A>C)
c.230+11230A>C
c.4638A>C (p.Glu1546Asp)
c.4533A>C (p.Glu1511Asp)
c.4524A>C (p.Glu1508Asp)
c.4485A>C (p.Glu1495Asp)
c.4431A>C (p.Glu1477Asp)
c.4335A>C (p.Glu1445Asp)
c.4305A>C (p.Glu1435Asp)
c.4230A>C (p.Glu1410Asp)
c.4128A>C (p.Glu1376Asp)
c.3759A>C (p.Glu1253Asp)
 dbSNP COSMIC
5g.112840202A>GCA446206619APCc.4662A>G (p.Glu1554=)
c.*4614A>G (n.*4614A>G)
c.4554A>G (p.Glu1518=)
c.4608A>G (p.Glu1536=)
c.*3930A>G (n.*3930A>G)
c.230+11230A>G
c.4638A>G (p.Glu1546=)
c.4533A>G (p.Glu1511=)
c.4524A>G (p.Glu1508=)
c.4485A>G (p.Glu1495=)
c.4431A>G (p.Glu1477=)
c.4335A>G (p.Glu1445=)
c.4305A>G (p.Glu1435=)
c.4230A>G (p.Glu1410=)
c.4128A>G (p.Glu1376=)
c.3759A>G (p.Glu1253=)
 ClinVar dbSNP gnomAD v4
5g.112840202A>TCA16031427APCc.4662A>T (p.Glu1554Asp)
c.*4614A>T (n.*4614A>T)
c.4554A>T (p.Glu1518Asp)
c.4608A>T (p.Glu1536Asp)
c.*3930A>T (n.*3930A>T)
c.230+11230A>T
c.4638A>T (p.Glu1546Asp)
c.4533A>T (p.Glu1511Asp)
c.4524A>T (p.Glu1508Asp)
c.4485A>T (p.Glu1495Asp)
c.4431A>T (p.Glu1477Asp)
c.4335A>T (p.Glu1445Asp)
c.4305A>T (p.Glu1435Asp)
c.4230A>T (p.Glu1410Asp)
c.4128A>T (p.Glu1376Asp)
c.3759A>T (p.Glu1253Asp)
 ClinVar dbSNP
5g.112840203A=CA1573470156APCc.4663A= (p.Thr1555=)
c.*4615A= (n.*4615A=)
c.4555A= (p.Thr1519=)
c.4609A= (p.Thr1537=)
c.*3931A= (n.*3931A=)
c.230+11231A=
c.4639A= (p.Thr1547=)
c.4534A= (p.Thr1512=)
c.4525A= (p.Thr1509=)
c.4486A= (p.Thr1496=)
c.4432A= (p.Thr1478=)
c.4336A= (p.Thr1446=)
c.4306A= (p.Thr1436=)
c.4231A= (p.Thr1411=)
c.4129A= (p.Thr1377=)
c.3760A= (p.Thr1254=)
5g.112840203A>CCA3368168APCc.4663A>C (p.Thr1555Pro)
c.*4615A>C (n.*4615A>C)
c.4555A>C (p.Thr1519Pro)
c.4609A>C (p.Thr1537Pro)
c.*3931A>C (n.*3931A>C)
c.230+11231A>C
c.4639A>C (p.Thr1547Pro)
c.4534A>C (p.Thr1512Pro)
c.4525A>C (p.Thr1509Pro)
c.4486A>C (p.Thr1496Pro)
c.4432A>C (p.Thr1478Pro)
c.4336A>C (p.Thr1446Pro)
c.4306A>C (p.Thr1436Pro)
c.4231A>C (p.Thr1411Pro)
c.4129A>C (p.Thr1377Pro)
c.3760A>C (p.Thr1254Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840203A>GCA16031428APCc.4663A>G (p.Thr1555Ala)
c.*4615A>G (n.*4615A>G)
c.4555A>G (p.Thr1519Ala)
c.4609A>G (p.Thr1537Ala)
c.*3931A>G (n.*3931A>G)
c.230+11231A>G
c.4639A>G (p.Thr1547Ala)
c.4534A>G (p.Thr1512Ala)
c.4525A>G (p.Thr1509Ala)
c.4486A>G (p.Thr1496Ala)
c.4432A>G (p.Thr1478Ala)
c.4336A>G (p.Thr1446Ala)
c.4306A>G (p.Thr1436Ala)
c.4231A>G (p.Thr1411Ala)
c.4129A>G (p.Thr1377Ala)
c.3760A>G (p.Thr1254Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840203A>TCA16031429APCc.4663A>T (p.Thr1555Ser)
c.*4615A>T (n.*4615A>T)
c.4555A>T (p.Thr1519Ser)
c.4609A>T (p.Thr1537Ser)
c.*3931A>T (n.*3931A>T)
c.230+11231A>T
c.4639A>T (p.Thr1547Ser)
c.4534A>T (p.Thr1512Ser)
c.4525A>T (p.Thr1509Ser)
c.4486A>T (p.Thr1496Ser)
c.4432A>T (p.Thr1478Ser)
c.4336A>T (p.Thr1446Ser)
c.4306A>T (p.Thr1436Ser)
c.4231A>T (p.Thr1411Ser)
c.4129A>T (p.Thr1377Ser)
c.3760A>T (p.Thr1254Ser)
 dbSNP
5g.112840203_112840209delinsACAGAATCA1573470162APCc.4663_4669delinsACAGAAT (p.Thr1555=)
c.*4615_*4621delinsACAGAAT (n.*4615_*4621delinsACAGAAT)
c.4555_4561delinsACAGAAT (p.Thr1519=)
c.4609_4615delinsACAGAAT (p.Thr1537=)
c.*3931_*3937delinsACAGAAT (n.*3931_*3937delinsACAGAAT)
c.230+11231_230+11237delinsACAGAAT
c.4639_4645delinsACAGAAT (p.Thr1547=)
c.4534_4540delinsACAGAAT (p.Thr1512=)
c.4525_4531delinsACAGAAT (p.Thr1509=)
c.4486_4492delinsACAGAAT (p.Thr1496=)
c.4432_4438delinsACAGAAT (p.Thr1478=)
c.4336_4342delinsACAGAAT (p.Thr1446=)
c.4306_4312delinsACAGAAT (p.Thr1436=)
c.4231_4237delinsACAGAAT (p.Thr1411=)
c.4129_4135delinsACAGAAT (p.Thr1377=)
c.3760_3766delinsACAGAAT (p.Thr1254=)
5g.112840204C>ACA16031430APCc.4664C>A (p.Thr1555Lys)
c.*4616C>A (n.*4616C>A)
c.4556C>A (p.Thr1519Lys)
c.4610C>A (p.Thr1537Lys)
c.*3932C>A (n.*3932C>A)
c.230+11232C>A
c.4640C>A (p.Thr1547Lys)
c.4535C>A (p.Thr1512Lys)
c.4526C>A (p.Thr1509Lys)
c.4487C>A (p.Thr1496Lys)
c.4433C>A (p.Thr1478Lys)
c.4337C>A (p.Thr1446Lys)
c.4307C>A (p.Thr1436Lys)
c.4232C>A (p.Thr1411Lys)
c.4130C>A (p.Thr1377Lys)
c.3761C>A (p.Thr1254Lys)
 dbSNP COSMIC
5g.112840204C>GCA16031431APCc.4664C>G (p.Thr1555Arg)
c.*4616C>G (n.*4616C>G)
c.4556C>G (p.Thr1519Arg)
c.4610C>G (p.Thr1537Arg)
c.*3932C>G (n.*3932C>G)
c.230+11232C>G
c.4640C>G (p.Thr1547Arg)
c.4535C>G (p.Thr1512Arg)
c.4526C>G (p.Thr1509Arg)
c.4487C>G (p.Thr1496Arg)
c.4433C>G (p.Thr1478Arg)
c.4337C>G (p.Thr1446Arg)
c.4307C>G (p.Thr1436Arg)
c.4232C>G (p.Thr1411Arg)
c.4130C>G (p.Thr1377Arg)
c.3761C>G (p.Thr1254Arg)
 dbSNP
5g.112840204C>TCA16031432APCc.4664C>T (p.Thr1555Ile)
c.*4616C>T (n.*4616C>T)
c.4556C>T (p.Thr1519Ile)
c.4610C>T (p.Thr1537Ile)
c.*3932C>T (n.*3932C>T)
c.230+11232C>T
c.4640C>T (p.Thr1547Ile)
c.4535C>T (p.Thr1512Ile)
c.4526C>T (p.Thr1509Ile)
c.4487C>T (p.Thr1496Ile)
c.4433C>T (p.Thr1478Ile)
c.4337C>T (p.Thr1446Ile)
c.4307C>T (p.Thr1436Ile)
c.4232C>T (p.Thr1411Ile)
c.4130C>T (p.Thr1377Ile)
c.3761C>T (p.Thr1254Ile)
 ClinVar dbSNP
5g.112840204_112840206delinsCAGCA1573470170APCc.4664_4666delinsCAG (p.Thr1555=)
c.*4616_*4618delinsCAG (n.*4616_*4618delinsCAG)
c.4556_4558delinsCAG (p.Thr1519=)
c.4610_4612delinsCAG (p.Thr1537=)
c.*3932_*3934delinsCAG (n.*3932_*3934delinsCAG)
c.230+11232_230+11234delinsCAG
c.4640_4642delinsCAG (p.Thr1547=)
c.4535_4537delinsCAG (p.Thr1512=)
c.4526_4528delinsCAG (p.Thr1509=)
c.4487_4489delinsCAG (p.Thr1496=)
c.4433_4435delinsCAG (p.Thr1478=)
c.4337_4339delinsCAG (p.Thr1446=)
c.4307_4309delinsCAG (p.Thr1436=)
c.4232_4234delinsCAG (p.Thr1411=)
c.4130_4132delinsCAG (p.Thr1377=)
c.3761_3763delinsCAG (p.Thr1254=)
5g.112840208_112840213delCA3368167APCc.4668_4673del (p.Ser1557_Glu1558del)
c.*4620_*4625del (n.*4620_*4625del)
c.4560_4565del (p.Ser1521_Glu1522del)
c.4614_4619del (p.Ser1539_Glu1540del)
c.*3936_*3941del (n.*3936_*3941del)
c.230+11236_230+11241del
c.4644_4649del (p.Ser1549_Glu1550del)
c.4539_4544del (p.Ser1514_Glu1515del)
c.4530_4535del (p.Ser1511_Glu1512del)
c.4491_4496del (p.Ser1498_Glu1499del)
c.4437_4442del (p.Ser1480_Glu1481del)
c.4341_4346del (p.Ser1448_Glu1449del)
c.4311_4316del (p.Ser1438_Glu1439del)
c.4236_4241del (p.Ser1413_Glu1414del)
c.4134_4139del (p.Ser1379_Glu1380del)
c.3765_3770del (p.Ser1256_Glu1257del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840205A>CCA446206620APCc.4665A>C (p.Thr1555=)
c.*4617A>C (n.*4617A>C)
c.4557A>C (p.Thr1519=)
c.4611A>C (p.Thr1537=)
c.*3933A>C (n.*3933A>C)
c.230+11233A>C
c.4641A>C (p.Thr1547=)
c.4536A>C (p.Thr1512=)
c.4527A>C (p.Thr1509=)
c.4488A>C (p.Thr1496=)
c.4434A>C (p.Thr1478=)
c.4338A>C (p.Thr1446=)
c.4308A>C (p.Thr1436=)
c.4233A>C (p.Thr1411=)
c.4131A>C (p.Thr1377=)
c.3762A>C (p.Thr1254=)
5g.112840205A>GCA446206621APCc.4665A>G (p.Thr1555=)
c.*4617A>G (n.*4617A>G)
c.4557A>G (p.Thr1519=)
c.4611A>G (p.Thr1537=)
c.*3933A>G (n.*3933A>G)
c.230+11233A>G
c.4641A>G (p.Thr1547=)
c.4536A>G (p.Thr1512=)
c.4527A>G (p.Thr1509=)
c.4488A>G (p.Thr1496=)
c.4434A>G (p.Thr1478=)
c.4338A>G (p.Thr1446=)
c.4308A>G (p.Thr1436=)
c.4233A>G (p.Thr1411=)
c.4131A>G (p.Thr1377=)
c.3762A>G (p.Thr1254=)
 dbSNP
5g.112840205A>TCA446206622APCc.4665A>T (p.Thr1555=)
c.*4617A>T (n.*4617A>T)
c.4557A>T (p.Thr1519=)
c.4611A>T (p.Thr1537=)
c.*3933A>T (n.*3933A>T)
c.230+11233A>T
c.4641A>T (p.Thr1547=)
c.4536A>T (p.Thr1512=)
c.4527A>T (p.Thr1509=)
c.4488A>T (p.Thr1496=)
c.4434A>T (p.Thr1478=)
c.4338A>T (p.Thr1446=)
c.4308A>T (p.Thr1436=)
c.4233A>T (p.Thr1411=)
c.4131A>T (p.Thr1377=)
c.3762A>T (p.Thr1254=)
 dbSNP
5g.112840206_112840207delCA009642APCc.4666_4667del (p.Glu1556IlefsTer5)
c.*4618_*4619del (n.*4618_*4619del)
c.4558_4559del (p.Glu1520IlefsTer5)
c.4612_4613del (p.Glu1538IlefsTer5)
c.*3934_*3935del (n.*3934_*3935del)
c.230+11234_230+11235del
c.4642_4643del (p.Glu1548IlefsTer5)
c.4537_4538del (p.Glu1513IlefsTer5)
c.4528_4529del (p.Glu1510IlefsTer5)
c.4489_4490del (p.Glu1497IlefsTer5)
c.4435_4436del (p.Glu1479IlefsTer5)
c.4339_4340del (p.Glu1447IlefsTer5)
c.4309_4310del (p.Glu1437IlefsTer5)
c.4234_4235del (p.Glu1412IlefsTer5)
c.4132_4133del (p.Glu1378IlefsTer5)
c.3763_3764del (p.Glu1255IlefsTer5)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.112840206G>ACA16031433APCc.4666G>A (p.Glu1556Lys)
c.*4618G>A (n.*4618G>A)
c.4558G>A (p.Glu1520Lys)
c.4612G>A (p.Glu1538Lys)
c.*3934G>A (n.*3934G>A)
c.230+11234G>A
c.4642G>A (p.Glu1548Lys)
c.4537G>A (p.Glu1513Lys)
c.4528G>A (p.Glu1510Lys)
c.4489G>A (p.Glu1497Lys)
c.4435G>A (p.Glu1479Lys)
c.4339G>A (p.Glu1447Lys)
c.4309G>A (p.Glu1437Lys)
c.4234G>A (p.Glu1412Lys)
c.4132G>A (p.Glu1378Lys)
c.3763G>A (p.Glu1255Lys)
 ClinVar dbSNP
5g.112840206G>CCA16031434APCc.4666G>C (p.Glu1556Gln)
c.*4618G>C (n.*4618G>C)
c.4558G>C (p.Glu1520Gln)
c.4612G>C (p.Glu1538Gln)
c.*3934G>C (n.*3934G>C)
c.230+11234G>C
c.4642G>C (p.Glu1548Gln)
c.4537G>C (p.Glu1513Gln)
c.4528G>C (p.Glu1510Gln)
c.4489G>C (p.Glu1497Gln)
c.4435G>C (p.Glu1479Gln)
c.4339G>C (p.Glu1447Gln)
c.4309G>C (p.Glu1437Gln)
c.4234G>C (p.Glu1412Gln)
c.4132G>C (p.Glu1378Gln)
c.3763G>C (p.Glu1255Gln)
 ClinVar dbSNP gnomAD v4
5g.112840206G=CA1573470183APCc.4666G= (p.Glu1556=)
c.*4618G= (n.*4618G=)
c.4558G= (p.Glu1520=)
c.4612G= (p.Glu1538=)
c.*3934G= (n.*3934G=)
c.230+11234G=
c.4642G= (p.Glu1548=)
c.4537G= (p.Glu1513=)
c.4528G= (p.Glu1510=)
c.4489G= (p.Glu1497=)
c.4435G= (p.Glu1479=)
c.4339G= (p.Glu1447=)
c.4309G= (p.Glu1437=)
c.4234G= (p.Glu1412=)
c.4132G= (p.Glu1378=)
c.3763G= (p.Glu1255=)
5g.112840206G>TCA16031435APCc.4666G>T (p.Glu1556Ter)
c.*4618G>T (n.*4618G>T)
c.4558G>T (p.Glu1520Ter)
c.4612G>T (p.Glu1538Ter)
c.*3934G>T (n.*3934G>T)
c.230+11234G>T
c.4642G>T (p.Glu1548Ter)
c.4537G>T (p.Glu1513Ter)
c.4528G>T (p.Glu1510Ter)
c.4489G>T (p.Glu1497Ter)
c.4435G>T (p.Glu1479Ter)
c.4339G>T (p.Glu1447Ter)
c.4309G>T (p.Glu1437Ter)
c.4234G>T (p.Glu1412Ter)
c.4132G>T (p.Glu1378Ter)
c.3763G>T (p.Glu1255Ter)
 dbSNP COSMIC
5g.112840207A>CCA16031436APCc.4667A>C (p.Glu1556Ala)
c.*4619A>C (n.*4619A>C)
c.4559A>C (p.Glu1520Ala)
c.4613A>C (p.Glu1538Ala)
c.*3935A>C (n.*3935A>C)
c.230+11235A>C
c.4643A>C (p.Glu1548Ala)
c.4538A>C (p.Glu1513Ala)
c.4529A>C (p.Glu1510Ala)
c.4490A>C (p.Glu1497Ala)
c.4436A>C (p.Glu1479Ala)
c.4340A>C (p.Glu1447Ala)
c.4310A>C (p.Glu1437Ala)
c.4235A>C (p.Glu1412Ala)
c.4133A>C (p.Glu1378Ala)
c.3764A>C (p.Glu1255Ala)
5g.112840207A>GCA16031437APCc.4667A>G (p.Glu1556Gly)
c.*4619A>G (n.*4619A>G)
c.4559A>G (p.Glu1520Gly)
c.4613A>G (p.Glu1538Gly)
c.*3935A>G (n.*3935A>G)
c.230+11235A>G
c.4643A>G (p.Glu1548Gly)
c.4538A>G (p.Glu1513Gly)
c.4529A>G (p.Glu1510Gly)
c.4490A>G (p.Glu1497Gly)
c.4436A>G (p.Glu1479Gly)
c.4340A>G (p.Glu1447Gly)
c.4310A>G (p.Glu1437Gly)
c.4235A>G (p.Glu1412Gly)
c.4133A>G (p.Glu1378Gly)
c.3764A>G (p.Glu1255Gly)
5g.112840207A>TCA16031438APCc.4667A>T (p.Glu1556Val)
c.*4619A>T (n.*4619A>T)
c.4559A>T (p.Glu1520Val)
c.4613A>T (p.Glu1538Val)
c.*3935A>T (n.*3935A>T)
c.230+11235A>T
c.4643A>T (p.Glu1548Val)
c.4538A>T (p.Glu1513Val)
c.4529A>T (p.Glu1510Val)
c.4490A>T (p.Glu1497Val)
c.4436A>T (p.Glu1479Val)
c.4340A>T (p.Glu1447Val)
c.4310A>T (p.Glu1437Val)
c.4235A>T (p.Glu1412Val)
c.4133A>T (p.Glu1378Val)
c.3764A>T (p.Glu1255Val)
 dbSNP
5g.112840207_112840208delCA2695205294APCc.4667_4668del (p.Glu1556ValfsTer5)
c.*4619_*4620del (n.*4619_*4620del)
c.4559_4560del (p.Glu1520ValfsTer5)
c.4613_4614del (p.Glu1538ValfsTer5)
c.*3935_*3936del (n.*3935_*3936del)
c.230+11235_230+11236del
c.4643_4644del (p.Glu1548ValfsTer5)
c.4538_4539del (p.Glu1513ValfsTer5)
c.4529_4530del (p.Glu1510ValfsTer5)
c.4490_4491del (p.Glu1497ValfsTer5)
c.4436_4437del (p.Glu1479ValfsTer5)
c.4340_4341del (p.Glu1447ValfsTer5)
c.4310_4311del (p.Glu1437ValfsTer5)
c.4235_4236del (p.Glu1412ValfsTer5)
c.4133_4134del (p.Glu1378ValfsTer5)
c.3764_3765del (p.Glu1255ValfsTer5)
5g.112840207_112840208insGCA645543957APCc.4667_4668insG (p.Ser1557IlefsTer5)
c.*4619_*4620insG (n.*4619_*4620insG)
c.4559_4560insG (p.Ser1521IlefsTer5)
c.4613_4614insG (p.Ser1539IlefsTer5)
c.*3935_*3936insG (n.*3935_*3936insG)
c.230+11235_230+11236insG
c.4643_4644insG (p.Ser1549IlefsTer5)
c.4538_4539insG (p.Ser1514IlefsTer5)
c.4529_4530insG (p.Ser1511IlefsTer5)
c.4490_4491insG (p.Ser1498IlefsTer5)
c.4436_4437insG (p.Ser1480IlefsTer5)
c.4340_4341insG (p.Ser1448IlefsTer5)
c.4310_4311insG (p.Ser1438IlefsTer5)
c.4235_4236insG (p.Ser1413IlefsTer5)
c.4133_4134insG (p.Ser1379IlefsTer5)
c.3764_3765insG (p.Ser1256IlefsTer5)
 COSMIC
5g.112840208A=CA1573470189APCc.4668A= (p.Glu1556=)
c.*4620A= (n.*4620A=)
c.4560A= (p.Glu1520=)
c.4614A= (p.Glu1538=)
c.*3936A= (n.*3936A=)
c.230+11236A=
c.4644A= (p.Glu1548=)
c.4539A= (p.Glu1513=)
c.4530A= (p.Glu1510=)
c.4491A= (p.Glu1497=)
c.4437A= (p.Glu1479=)
c.4341A= (p.Glu1447=)
c.4311A= (p.Glu1437=)
c.4236A= (p.Glu1412=)
c.4134A= (p.Glu1378=)
c.3765A= (p.Glu1255=)
5g.112840208A>CCA16031439APCc.4668A>C (p.Glu1556Asp)
c.*4620A>C (n.*4620A>C)
c.4560A>C (p.Glu1520Asp)
c.4614A>C (p.Glu1538Asp)
c.*3936A>C (n.*3936A>C)
c.230+11236A>C
c.4644A>C (p.Glu1548Asp)
c.4539A>C (p.Glu1513Asp)
c.4530A>C (p.Glu1510Asp)
c.4491A>C (p.Glu1497Asp)
c.4437A>C (p.Glu1479Asp)
c.4341A>C (p.Glu1447Asp)
c.4311A>C (p.Glu1437Asp)
c.4236A>C (p.Glu1412Asp)
c.4134A>C (p.Glu1378Asp)
c.3765A>C (p.Glu1255Asp)
5g.112840208A>GCA009648APCc.4668A>G (p.Glu1556=)
c.*4620A>G (n.*4620A>G)
c.4560A>G (p.Glu1520=)
c.4614A>G (p.Glu1538=)
c.*3936A>G (n.*3936A>G)
c.230+11236A>G
c.4644A>G (p.Glu1548=)
c.4539A>G (p.Glu1513=)
c.4530A>G (p.Glu1510=)
c.4491A>G (p.Glu1497=)
c.4437A>G (p.Glu1479=)
c.4341A>G (p.Glu1447=)
c.4311A>G (p.Glu1437=)
c.4236A>G (p.Glu1412=)
c.4134A>G (p.Glu1378=)
c.3765A>G (p.Glu1255=)
 ClinVar dbSNP
5g.112840208A>TCA16031440APCc.4668A>T (p.Glu1556Asp)
c.*4620A>T (n.*4620A>T)
c.4560A>T (p.Glu1520Asp)
c.4614A>T (p.Glu1538Asp)
c.*3936A>T (n.*3936A>T)
c.230+11236A>T
c.4644A>T (p.Glu1548Asp)
c.4539A>T (p.Glu1513Asp)
c.4530A>T (p.Glu1510Asp)
c.4491A>T (p.Glu1497Asp)
c.4437A>T (p.Glu1479Asp)
c.4341A>T (p.Glu1447Asp)
c.4311A>T (p.Glu1437Asp)
c.4236A>T (p.Glu1412Asp)
c.4134A>T (p.Glu1378Asp)
c.3765A>T (p.Glu1255Asp)
 dbSNP
5g.112840208_112840209insGCA446206623APCc.4668_4669insG (p.Ser1557ValfsTer5)
c.*4620_*4621insG (n.*4620_*4621insG)
c.4560_4561insG (p.Ser1521ValfsTer5)
c.4614_4615insG (p.Ser1539ValfsTer5)
c.*3936_*3937insG (n.*3936_*3937insG)
c.230+11236_230+11237insG
c.4644_4645insG (p.Ser1549ValfsTer5)
c.4539_4540insG (p.Ser1514ValfsTer5)
c.4530_4531insG (p.Ser1511ValfsTer5)
c.4491_4492insG (p.Ser1498ValfsTer5)
c.4437_4438insG (p.Ser1480ValfsTer5)
c.4341_4342insG (p.Ser1448ValfsTer5)
c.4311_4312insG (p.Ser1438ValfsTer5)
c.4236_4237insG (p.Ser1413ValfsTer5)
c.4134_4135insG (p.Ser1379ValfsTer5)
c.3765_3766insG (p.Ser1256ValfsTer5)
5g.112840209delCA2695205295APCc.4669del (p.Ser1557GlnfsTer26)
c.*4621del (n.*4621del)
c.4561del (p.Ser1521GlnfsTer26)
c.4615del (p.Ser1539GlnfsTer26)
c.*3937del (n.*3937del)
c.230+11237del
c.4645del (p.Ser1549GlnfsTer26)
c.4540del (p.Ser1514GlnfsTer26)
c.4531del (p.Ser1511GlnfsTer26)
c.4492del (p.Ser1498GlnfsTer26)
c.4438del (p.Ser1480GlnfsTer26)
c.4342del (p.Ser1448GlnfsTer26)
c.4312del (p.Ser1438GlnfsTer26)
c.4237del (p.Ser1413GlnfsTer26)
c.4135del (p.Ser1379GlnfsTer26)
c.3766del (p.Ser1256GlnfsTer26)
5g.112840209T>ACA16031441APCc.4669T>A (p.Ser1557Thr)
c.*4621T>A (n.*4621T>A)
c.4561T>A (p.Ser1521Thr)
c.4615T>A (p.Ser1539Thr)
c.*3937T>A (n.*3937T>A)
c.230+11237T>A
c.4645T>A (p.Ser1549Thr)
c.4540T>A (p.Ser1514Thr)
c.4531T>A (p.Ser1511Thr)
c.4492T>A (p.Ser1498Thr)
c.4438T>A (p.Ser1480Thr)
c.4342T>A (p.Ser1448Thr)
c.4312T>A (p.Ser1438Thr)
c.4237T>A (p.Ser1413Thr)
c.4135T>A (p.Ser1379Thr)
c.3766T>A (p.Ser1256Thr)
 dbSNP
5g.112840209T>CCA16031442APCc.4669T>C (p.Ser1557Pro)
c.*4621T>C (n.*4621T>C)
c.4561T>C (p.Ser1521Pro)
c.4615T>C (p.Ser1539Pro)
c.*3937T>C (n.*3937T>C)
c.230+11237T>C
c.4645T>C (p.Ser1549Pro)
c.4540T>C (p.Ser1514Pro)
c.4531T>C (p.Ser1511Pro)
c.4492T>C (p.Ser1498Pro)
c.4438T>C (p.Ser1480Pro)
c.4342T>C (p.Ser1448Pro)
c.4312T>C (p.Ser1438Pro)
c.4237T>C (p.Ser1413Pro)
c.4135T>C (p.Ser1379Pro)
c.3766T>C (p.Ser1256Pro)
5g.112840209T>GCA16031443APCc.4669T>G (p.Ser1557Ala)
c.*4621T>G (n.*4621T>G)
c.4561T>G (p.Ser1521Ala)
c.4615T>G (p.Ser1539Ala)
c.*3937T>G (n.*3937T>G)
c.230+11237T>G
c.4645T>G (p.Ser1549Ala)
c.4540T>G (p.Ser1514Ala)
c.4531T>G (p.Ser1511Ala)
c.4492T>G (p.Ser1498Ala)
c.4438T>G (p.Ser1480Ala)
c.4342T>G (p.Ser1448Ala)
c.4312T>G (p.Ser1438Ala)
c.4237T>G (p.Ser1413Ala)
c.4135T>G (p.Ser1379Ala)
c.3766T>G (p.Ser1256Ala)
 dbSNP
5g.112840209_112840210delCA2548062294APCc.4669_4670del (p.Ser1557ArgfsTer4)
c.*4621_*4622del (n.*4621_*4622del)
c.4561_4562del (p.Ser1521ArgfsTer4)
c.4615_4616del (p.Ser1539ArgfsTer4)
c.*3937_*3938del (n.*3937_*3938del)
c.230+11237_230+11238del
c.4645_4646del (p.Ser1549ArgfsTer4)
c.4540_4541del (p.Ser1514ArgfsTer4)
c.4531_4532del (p.Ser1511ArgfsTer4)
c.4492_4493del (p.Ser1498ArgfsTer4)
c.4438_4439del (p.Ser1480ArgfsTer4)
c.4342_4343del (p.Ser1448ArgfsTer4)
c.4312_4313del (p.Ser1438ArgfsTer4)
c.4237_4238del (p.Ser1413ArgfsTer4)
c.4135_4136del (p.Ser1379ArgfsTer4)
c.3766_3767del (p.Ser1256ArgfsTer4)
5g.112840210C>ACA16031444APCc.4670C>A (p.Ser1557Ter)
c.*4622C>A (n.*4622C>A)
c.4562C>A (p.Ser1521Ter)
c.4616C>A (p.Ser1539Ter)
c.*3938C>A (n.*3938C>A)
c.230+11238C>A
c.4646C>A (p.Ser1549Ter)
c.4541C>A (p.Ser1514Ter)
c.4532C>A (p.Ser1511Ter)
c.4493C>A (p.Ser1498Ter)
c.4439C>A (p.Ser1480Ter)
c.4343C>A (p.Ser1448Ter)
c.4313C>A (p.Ser1438Ter)
c.4238C>A (p.Ser1413Ter)
c.4136C>A (p.Ser1379Ter)
c.3767C>A (p.Ser1256Ter)
 ClinVar dbSNP COSMIC
5g.112840210C=CA1573470200APCc.4670C= (p.Ser1557=)
c.*4622C= (n.*4622C=)
c.4562C= (p.Ser1521=)
c.4616C= (p.Ser1539=)
c.*3938C= (n.*3938C=)
c.230+11238C=
c.4646C= (p.Ser1549=)
c.4541C= (p.Ser1514=)
c.4532C= (p.Ser1511=)
c.4493C= (p.Ser1498=)
c.4439C= (p.Ser1480=)
c.4343C= (p.Ser1448=)
c.4313C= (p.Ser1438=)
c.4238C= (p.Ser1413=)
c.4136C= (p.Ser1379=)
c.3767C= (p.Ser1256=)
5g.112840210C>GCA16031445APCc.4670C>G (p.Ser1557Ter)
c.*4622C>G (n.*4622C>G)
c.4562C>G (p.Ser1521Ter)
c.4616C>G (p.Ser1539Ter)
c.*3938C>G (n.*3938C>G)
c.230+11238C>G
c.4646C>G (p.Ser1549Ter)
c.4541C>G (p.Ser1514Ter)
c.4532C>G (p.Ser1511Ter)
c.4493C>G (p.Ser1498Ter)
c.4439C>G (p.Ser1480Ter)
c.4343C>G (p.Ser1448Ter)
c.4313C>G (p.Ser1438Ter)
c.4238C>G (p.Ser1413Ter)
c.4136C>G (p.Ser1379Ter)
c.3767C>G (p.Ser1256Ter)
 dbSNP COSMIC
5g.112840210C>TCA16031446APCc.4670C>T (p.Ser1557Leu)
c.*4622C>T (n.*4622C>T)
c.4562C>T (p.Ser1521Leu)
c.4616C>T (p.Ser1539Leu)
c.*3938C>T (n.*3938C>T)
c.230+11238C>T
c.4646C>T (p.Ser1549Leu)
c.4541C>T (p.Ser1514Leu)
c.4532C>T (p.Ser1511Leu)
c.4493C>T (p.Ser1498Leu)
c.4439C>T (p.Ser1480Leu)
c.4343C>T (p.Ser1448Leu)
c.4313C>T (p.Ser1438Leu)
c.4238C>T (p.Ser1413Leu)
c.4136C>T (p.Ser1379Leu)
c.3767C>T (p.Ser1256Leu)
 ClinVar dbSNP COSMIC
5g.112840210_112840212delinsCAGCA1573470208APCc.4670_4672delinsCAG (p.Ser1557=)
c.*4622_*4624delinsCAG (n.*4622_*4624delinsCAG)
c.4562_4564delinsCAG (p.Ser1521=)
c.4616_4618delinsCAG (p.Ser1539=)
c.*3938_*3940delinsCAG (n.*3938_*3940delinsCAG)
c.230+11238_230+11240delinsCAG
c.4646_4648delinsCAG (p.Ser1549=)
c.4541_4543delinsCAG (p.Ser1514=)
c.4532_4534delinsCAG (p.Ser1511=)
c.4493_4495delinsCAG (p.Ser1498=)
c.4439_4441delinsCAG (p.Ser1480=)
c.4343_4345delinsCAG (p.Ser1448=)
c.4313_4315delinsCAG (p.Ser1438=)
c.4238_4240delinsCAG (p.Ser1413=)
c.4136_4138delinsCAG (p.Ser1379=)
c.3767_3769delinsCAG (p.Ser1256=)
5g.112840211A=CA1573470221APCc.4671A= (p.Ser1557=)
c.*4623A= (n.*4623A=)
c.4563A= (p.Ser1521=)
c.4617A= (p.Ser1539=)
c.*3939A= (n.*3939A=)
c.230+11239A=
c.4647A= (p.Ser1549=)
c.4542A= (p.Ser1514=)
c.4533A= (p.Ser1511=)
c.4494A= (p.Ser1498=)
c.4440A= (p.Ser1480=)
c.4344A= (p.Ser1448=)
c.4314A= (p.Ser1438=)
c.4239A= (p.Ser1413=)
c.4137A= (p.Ser1379=)
c.3768A= (p.Ser1256=)
5g.112840211A>CCA446206626APCc.4671A>C (p.Ser1557=)
c.*4623A>C (n.*4623A>C)
c.4563A>C (p.Ser1521=)
c.4617A>C (p.Ser1539=)
c.*3939A>C (n.*3939A>C)
c.230+11239A>C
c.4647A>C (p.Ser1549=)
c.4542A>C (p.Ser1514=)
c.4533A>C (p.Ser1511=)
c.4494A>C (p.Ser1498=)
c.4440A>C (p.Ser1480=)
c.4344A>C (p.Ser1448=)
c.4314A>C (p.Ser1438=)
c.4239A>C (p.Ser1413=)
c.4137A>C (p.Ser1379=)
c.3768A>C (p.Ser1256=)
 ClinVar dbSNP
5g.112840211A>GCA446206627APCc.4671A>G (p.Ser1557=)
c.*4623A>G (n.*4623A>G)
c.4563A>G (p.Ser1521=)
c.4617A>G (p.Ser1539=)
c.*3939A>G (n.*3939A>G)
c.230+11239A>G
c.4647A>G (p.Ser1549=)
c.4542A>G (p.Ser1514=)
c.4533A>G (p.Ser1511=)
c.4494A>G (p.Ser1498=)
c.4440A>G (p.Ser1480=)
c.4344A>G (p.Ser1448=)
c.4314A>G (p.Ser1438=)
c.4239A>G (p.Ser1413=)
c.4137A>G (p.Ser1379=)
c.3768A>G (p.Ser1256=)
 ClinVar dbSNP gnomAD v4
5g.112840211A>TCA446206625APCc.4671A>T (p.Ser1557=)
c.*4623A>T (n.*4623A>T)
c.4563A>T (p.Ser1521=)
c.4617A>T (p.Ser1539=)
c.*3939A>T (n.*3939A>T)
c.230+11239A>T
c.4647A>T (p.Ser1549=)
c.4542A>T (p.Ser1514=)
c.4533A>T (p.Ser1511=)
c.4494A>T (p.Ser1498=)
c.4440A>T (p.Ser1480=)
c.4344A>T (p.Ser1448=)
c.4314A>T (p.Ser1438=)
c.4239A>T (p.Ser1413=)
c.4137A>T (p.Ser1379=)
c.3768A>T (p.Ser1256=)
 ClinVar dbSNP
5g.112840211dupCA446206624APCc.4671dup (p.Glu1558ArgfsTer4)
c.*4623dup (n.*4623dup)
c.4563dup (p.Glu1522ArgfsTer4)
c.4617dup (p.Glu1540ArgfsTer4)
c.*3939dup (n.*3939dup)
c.230+11239dup
c.4647dup (p.Glu1550ArgfsTer4)
c.4542dup (p.Glu1515ArgfsTer4)
c.4533dup (p.Glu1512ArgfsTer4)
c.4494dup (p.Glu1499ArgfsTer4)
c.4440dup (p.Glu1481ArgfsTer4)
c.4344dup (p.Glu1449ArgfsTer4)
c.4314dup (p.Glu1439ArgfsTer4)
c.4239dup (p.Glu1414ArgfsTer4)
c.4137dup (p.Glu1380ArgfsTer4)
c.3768dup (p.Glu1257ArgfsTer4)
 COSMIC
5g.112840213_112840214delCA658655948APCc.4673_4674del (p.Glu1558AlafsTer3)
c.*4625_*4626del (n.*4625_*4626del)
c.4565_4566del (p.Glu1522AlafsTer3)
c.4619_4620del (p.Glu1540AlafsTer3)
c.*3941_*3942del (n.*3941_*3942del)
c.230+11241_230+11242del
c.4649_4650del (p.Glu1550AlafsTer3)
c.4544_4545del (p.Glu1515AlafsTer3)
c.4535_4536del (p.Glu1512AlafsTer3)
c.4496_4497del (p.Glu1499AlafsTer3)
c.4442_4443del (p.Glu1481AlafsTer3)
c.4346_4347del (p.Glu1449AlafsTer3)
c.4316_4317del (p.Glu1439AlafsTer3)
c.4241_4242del (p.Glu1414AlafsTer3)
c.4139_4140del (p.Glu1380AlafsTer3)
c.3770_3771del (p.Glu1257AlafsTer3)
 ClinVar dbSNP
5g.112840212G>ACA16031447APCc.4672G>A (p.Glu1558Lys)
c.*4624G>A (n.*4624G>A)
c.4564G>A (p.Glu1522Lys)
c.4618G>A (p.Glu1540Lys)
c.*3940G>A (n.*3940G>A)
c.230+11240G>A
c.4648G>A (p.Glu1550Lys)
c.4543G>A (p.Glu1515Lys)
c.4534G>A (p.Glu1512Lys)
c.4495G>A (p.Glu1499Lys)
c.4441G>A (p.Glu1481Lys)
c.4345G>A (p.Glu1449Lys)
c.4315G>A (p.Glu1439Lys)
c.4240G>A (p.Glu1414Lys)
c.4138G>A (p.Glu1380Lys)
c.3769G>A (p.Glu1257Lys)
 dbSNP
5g.112840212G>CCA009654APCc.4672G>C (p.Glu1558Gln)
c.*4624G>C (n.*4624G>C)
c.4564G>C (p.Glu1522Gln)
c.4618G>C (p.Glu1540Gln)
c.*3940G>C (n.*3940G>C)
c.230+11240G>C
c.4648G>C (p.Glu1550Gln)
c.4543G>C (p.Glu1515Gln)
c.4534G>C (p.Glu1512Gln)
c.4495G>C (p.Glu1499Gln)
c.4441G>C (p.Glu1481Gln)
c.4345G>C (p.Glu1449Gln)
c.4315G>C (p.Glu1439Gln)
c.4240G>C (p.Glu1414Gln)
c.4138G>C (p.Glu1380Gln)
c.3769G>C (p.Glu1257Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840212G=CA1573470244APCc.4672G= (p.Glu1558=)
c.*4624G= (n.*4624G=)
c.4564G= (p.Glu1522=)
c.4618G= (p.Glu1540=)
c.*3940G= (n.*3940G=)
c.230+11240G=
c.4648G= (p.Glu1550=)
c.4543G= (p.Glu1515=)
c.4534G= (p.Glu1512=)
c.4495G= (p.Glu1499=)
c.4441G= (p.Glu1481=)
c.4345G= (p.Glu1449=)
c.4315G= (p.Glu1439=)
c.4240G= (p.Glu1414=)
c.4138G= (p.Glu1380=)
c.3769G= (p.Glu1257=)
5g.112840212G>TCA16031448APCc.4672G>T (p.Glu1558Ter)
c.*4624G>T (n.*4624G>T)
c.4564G>T (p.Glu1522Ter)
c.4618G>T (p.Glu1540Ter)
c.*3940G>T (n.*3940G>T)
c.230+11240G>T
c.4648G>T (p.Glu1550Ter)
c.4543G>T (p.Glu1515Ter)
c.4534G>T (p.Glu1512Ter)
c.4495G>T (p.Glu1499Ter)
c.4441G>T (p.Glu1481Ter)
c.4345G>T (p.Glu1449Ter)
c.4315G>T (p.Glu1439Ter)
c.4240G>T (p.Glu1414Ter)
c.4138G>T (p.Glu1380Ter)
c.3769G>T (p.Glu1257Ter)
 dbSNP
5g.112840212_112840213insTGCA2505455120APCc.4672_4673insTG (p.Glu1558ValfsTer26)
c.*4624_*4625insTG (n.*4624_*4625insTG)
c.4564_4565insTG (p.Glu1522ValfsTer26)
c.4618_4619insTG (p.Glu1540ValfsTer26)
c.*3940_*3941insTG (n.*3940_*3941insTG)
c.230+11240_230+11241insTG
c.4648_4649insTG (p.Glu1550ValfsTer26)
c.4543_4544insTG (p.Glu1515ValfsTer26)
c.4534_4535insTG (p.Glu1512ValfsTer26)
c.4495_4496insTG (p.Glu1499ValfsTer26)
c.4441_4442insTG (p.Glu1481ValfsTer26)
c.4345_4346insTG (p.Glu1449ValfsTer26)
c.4315_4316insTG (p.Glu1439ValfsTer26)
c.4240_4241insTG (p.Glu1414ValfsTer26)
c.4138_4139insTG (p.Glu1380ValfsTer26)
c.3769_3770insTG (p.Glu1257ValfsTer26)
5g.112840213A>CCA16031449APCc.4673A>C (p.Glu1558Ala)
c.*4625A>C (n.*4625A>C)
c.4565A>C (p.Glu1522Ala)
c.4619A>C (p.Glu1540Ala)
c.*3941A>C (n.*3941A>C)
c.230+11241A>C
c.4649A>C (p.Glu1550Ala)
c.4544A>C (p.Glu1515Ala)
c.4535A>C (p.Glu1512Ala)
c.4496A>C (p.Glu1499Ala)
c.4442A>C (p.Glu1481Ala)
c.4346A>C (p.Glu1449Ala)
c.4316A>C (p.Glu1439Ala)
c.4241A>C (p.Glu1414Ala)
c.4139A>C (p.Glu1380Ala)
c.3770A>C (p.Glu1257Ala)
5g.112840213A>GCA16031450APCc.4673A>G (p.Glu1558Gly)
c.*4625A>G (n.*4625A>G)
c.4565A>G (p.Glu1522Gly)
c.4619A>G (p.Glu1540Gly)
c.*3941A>G (n.*3941A>G)
c.230+11241A>G
c.4649A>G (p.Glu1550Gly)
c.4544A>G (p.Glu1515Gly)
c.4535A>G (p.Glu1512Gly)
c.4496A>G (p.Glu1499Gly)
c.4442A>G (p.Glu1481Gly)
c.4346A>G (p.Glu1449Gly)
c.4316A>G (p.Glu1439Gly)
c.4241A>G (p.Glu1414Gly)
c.4139A>G (p.Glu1380Gly)
c.3770A>G (p.Glu1257Gly)
 dbSNP
5g.112840213A>TCA16031451APCc.4673A>T (p.Glu1558Val)
c.*4625A>T (n.*4625A>T)
c.4565A>T (p.Glu1522Val)
c.4619A>T (p.Glu1540Val)
c.*3941A>T (n.*3941A>T)
c.230+11241A>T
c.4649A>T (p.Glu1550Val)
c.4544A>T (p.Glu1515Val)
c.4535A>T (p.Glu1512Val)
c.4496A>T (p.Glu1499Val)
c.4442A>T (p.Glu1481Val)
c.4346A>T (p.Glu1449Val)
c.4316A>T (p.Glu1439Val)
c.4241A>T (p.Glu1414Val)
c.4139A>T (p.Glu1380Val)
c.3770A>T (p.Glu1257Val)
 dbSNP
5g.112840214_112840231delCA2695205296APCc.4674_4691del (p.Glu1558_Asn1564delinsAsp)
c.*4626_*4643del (n.*4626_*4643del)
c.4566_4583del (p.Glu1522_Asn1528delinsAsp)
c.4620_4637del (p.Glu1540_Asn1546delinsAsp)
c.*3942_*3959del (n.*3942_*3959del)
c.230+11242_230+11259del
c.4650_4667del (p.Glu1550_Asn1556delinsAsp)
c.4545_4562del (p.Glu1515_Asn1521delinsAsp)
c.4536_4553del (p.Glu1512_Asn1518delinsAsp)
c.4497_4514del (p.Glu1499_Asn1505delinsAsp)
c.4443_4460del (p.Glu1481_Asn1487delinsAsp)
c.4347_4364del (p.Glu1449_Asn1455delinsAsp)
c.4317_4334del (p.Glu1439_Asn1445delinsAsp)
c.4242_4259del (p.Glu1414_Asn1420delinsAsp)
c.4140_4157del (p.Glu1380_Asn1386delinsAsp)
c.3771_3788del (p.Glu1257_Asn1263delinsAsp)
5g.112840214delCA446206629APCc.4674del (p.Glu1558AspfsTer25)
c.*4626del (n.*4626del)
c.4566del (p.Glu1522AspfsTer25)
c.4620del (p.Glu1540AspfsTer25)
c.*3942del (n.*3942del)
c.230+11242del
c.4650del (p.Glu1550AspfsTer25)
c.4545del (p.Glu1515AspfsTer25)
c.4536del (p.Glu1512AspfsTer25)
c.4497del (p.Glu1499AspfsTer25)
c.4443del (p.Glu1481AspfsTer25)
c.4347del (p.Glu1449AspfsTer25)
c.4317del (p.Glu1439AspfsTer25)
c.4242del (p.Glu1414AspfsTer25)
c.4140del (p.Glu1380AspfsTer25)
c.3771del (p.Glu1257AspfsTer25)
 COSMIC
5g.112840214G>ACA446206628APCc.4674G>A (p.Glu1558=)
c.*4626G>A (n.*4626G>A)
c.4566G>A (p.Glu1522=)
c.4620G>A (p.Glu1540=)
c.*3942G>A (n.*3942G>A)
c.230+11242G>A
c.4650G>A (p.Glu1550=)
c.4545G>A (p.Glu1515=)
c.4536G>A (p.Glu1512=)
c.4497G>A (p.Glu1499=)
c.4443G>A (p.Glu1481=)
c.4347G>A (p.Glu1449=)
c.4317G>A (p.Glu1439=)
c.4242G>A (p.Glu1414=)
c.4140G>A (p.Glu1380=)
c.3771G>A (p.Glu1257=)
 dbSNP
5g.112840214G>CCA16031452APCc.4674G>C (p.Glu1558Asp)
c.*4626G>C (n.*4626G>C)
c.4566G>C (p.Glu1522Asp)
c.4620G>C (p.Glu1540Asp)
c.*3942G>C (n.*3942G>C)
c.230+11242G>C
c.4650G>C (p.Glu1550Asp)
c.4545G>C (p.Glu1515Asp)
c.4536G>C (p.Glu1512Asp)
c.4497G>C (p.Glu1499Asp)
c.4443G>C (p.Glu1481Asp)
c.4347G>C (p.Glu1449Asp)
c.4317G>C (p.Glu1439Asp)
c.4242G>C (p.Glu1414Asp)
c.4140G>C (p.Glu1380Asp)
c.3771G>C (p.Glu1257Asp)
5g.112840214G>TCA16031453APCc.4674G>T (p.Glu1558Asp)
c.*4626G>T (n.*4626G>T)
c.4566G>T (p.Glu1522Asp)
c.4620G>T (p.Glu1540Asp)
c.*3942G>T (n.*3942G>T)
c.230+11242G>T
c.4650G>T (p.Glu1550Asp)
c.4545G>T (p.Glu1515Asp)
c.4536G>T (p.Glu1512Asp)
c.4497G>T (p.Glu1499Asp)
c.4443G>T (p.Glu1481Asp)
c.4347G>T (p.Glu1449Asp)
c.4317G>T (p.Glu1439Asp)
c.4242G>T (p.Glu1414Asp)
c.4140G>T (p.Glu1380Asp)
c.3771G>T (p.Glu1257Asp)
5g.112840215C>ACA16031454APCc.4675C>A (p.Gln1559Lys)
c.*4627C>A (n.*4627C>A)
c.4567C>A (p.Gln1523Lys)
c.4621C>A (p.Gln1541Lys)
c.*3943C>A (n.*3943C>A)
c.230+11243C>A
c.4651C>A (p.Gln1551Lys)
c.4546C>A (p.Gln1516Lys)
c.4537C>A (p.Gln1513Lys)
c.4498C>A (p.Gln1500Lys)
c.4444C>A (p.Gln1482Lys)
c.4348C>A (p.Gln1450Lys)
c.4318C>A (p.Gln1440Lys)
c.4243C>A (p.Gln1415Lys)
c.4141C>A (p.Gln1381Lys)
c.3772C>A (p.Gln1258Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840215C=CA1573470249APCc.4675C= (p.Gln1559=)
c.*4627C= (n.*4627C=)
c.4567C= (p.Gln1523=)
c.4621C= (p.Gln1541=)
c.*3943C= (n.*3943C=)
c.230+11243C=
c.4651C= (p.Gln1551=)
c.4546C= (p.Gln1516=)
c.4537C= (p.Gln1513=)
c.4498C= (p.Gln1500=)
c.4444C= (p.Gln1482=)
c.4348C= (p.Gln1450=)
c.4318C= (p.Gln1440=)
c.4243C= (p.Gln1415=)
c.4141C= (p.Gln1381=)
c.3772C= (p.Gln1258=)
5g.112840215C>GCA16031455APCc.4675C>G (p.Gln1559Glu)
c.*4627C>G (n.*4627C>G)
c.4567C>G (p.Gln1523Glu)
c.4621C>G (p.Gln1541Glu)
c.*3943C>G (n.*3943C>G)
c.230+11243C>G
c.4651C>G (p.Gln1551Glu)
c.4546C>G (p.Gln1516Glu)
c.4537C>G (p.Gln1513Glu)
c.4498C>G (p.Gln1500Glu)
c.4444C>G (p.Gln1482Glu)
c.4348C>G (p.Gln1450Glu)
c.4318C>G (p.Gln1440Glu)
c.4243C>G (p.Gln1415Glu)
c.4141C>G (p.Gln1381Glu)
c.3772C>G (p.Gln1258Glu)
 ClinVar dbSNP
5g.112840215C>TCA009662APCc.4675C>T (p.Gln1559Ter)
c.*4627C>T (n.*4627C>T)
c.4567C>T (p.Gln1523Ter)
c.4621C>T (p.Gln1541Ter)
c.*3943C>T (n.*3943C>T)
c.230+11243C>T
c.4651C>T (p.Gln1551Ter)
c.4546C>T (p.Gln1516Ter)
c.4537C>T (p.Gln1513Ter)
c.4498C>T (p.Gln1500Ter)
c.4444C>T (p.Gln1482Ter)
c.4348C>T (p.Gln1450Ter)
c.4318C>T (p.Gln1440Ter)
c.4243C>T (p.Gln1415Ter)
c.4141C>T (p.Gln1381Ter)
c.3772C>T (p.Gln1258Ter)
 ClinVar dbSNP COSMIC
5g.112840216A>CCA16031456APCc.4676A>C (p.Gln1559Pro)
c.*4628A>C (n.*4628A>C)
c.4568A>C (p.Gln1523Pro)
c.4622A>C (p.Gln1541Pro)
c.*3944A>C (n.*3944A>C)
c.230+11244A>C
c.4652A>C (p.Gln1551Pro)
c.4547A>C (p.Gln1516Pro)
c.4538A>C (p.Gln1513Pro)
c.4499A>C (p.Gln1500Pro)
c.4445A>C (p.Gln1482Pro)
c.4349A>C (p.Gln1450Pro)
c.4319A>C (p.Gln1440Pro)
c.4244A>C (p.Gln1415Pro)
c.4142A>C (p.Gln1381Pro)
c.3773A>C (p.Gln1258Pro)
5g.112840216A>GCA16031457APCc.4676A>G (p.Gln1559Arg)
c.*4628A>G (n.*4628A>G)
c.4568A>G (p.Gln1523Arg)
c.4622A>G (p.Gln1541Arg)
c.*3944A>G (n.*3944A>G)
c.230+11244A>G
c.4652A>G (p.Gln1551Arg)
c.4547A>G (p.Gln1516Arg)
c.4538A>G (p.Gln1513Arg)
c.4499A>G (p.Gln1500Arg)
c.4445A>G (p.Gln1482Arg)
c.4349A>G (p.Gln1450Arg)
c.4319A>G (p.Gln1440Arg)
c.4244A>G (p.Gln1415Arg)
c.4142A>G (p.Gln1381Arg)
c.3773A>G (p.Gln1258Arg)
 dbSNP
5g.112840216A>TCA16031458APCc.4676A>T (p.Gln1559Leu)
c.*4628A>T (n.*4628A>T)
c.4568A>T (p.Gln1523Leu)
c.4622A>T (p.Gln1541Leu)
c.*3944A>T (n.*3944A>T)
c.230+11244A>T
c.4652A>T (p.Gln1551Leu)
c.4547A>T (p.Gln1516Leu)
c.4538A>T (p.Gln1513Leu)
c.4499A>T (p.Gln1500Leu)
c.4445A>T (p.Gln1482Leu)
c.4349A>T (p.Gln1450Leu)
c.4319A>T (p.Gln1440Leu)
c.4244A>T (p.Gln1415Leu)
c.4142A>T (p.Gln1381Leu)
c.3773A>T (p.Gln1258Leu)
 dbSNP
5g.112840217G>ACA039497APCc.4677G>A (p.Gln1559=)
c.*4629G>A (n.*4629G>A)
c.4569G>A (p.Gln1523=)
c.4623G>A (p.Gln1541=)
c.*3945G>A (n.*3945G>A)
c.230+11245G>A
c.4653G>A (p.Gln1551=)
c.4548G>A (p.Gln1516=)
c.4539G>A (p.Gln1513=)
c.4500G>A (p.Gln1500=)
c.4446G>A (p.Gln1482=)
c.4350G>A (p.Gln1450=)
c.4320G>A (p.Gln1440=)
c.4245G>A (p.Gln1415=)
c.4143G>A (p.Gln1381=)
c.3774G>A (p.Gln1258=)
 ClinVar dbSNP ExAC gnomAD v2
5g.112840217G>CCA16031459APCc.4677G>C (p.Gln1559His)
c.*4629G>C (n.*4629G>C)
c.4569G>C (p.Gln1523His)
c.4623G>C (p.Gln1541His)
c.*3945G>C (n.*3945G>C)
c.230+11245G>C
c.4653G>C (p.Gln1551His)
c.4548G>C (p.Gln1516His)
c.4539G>C (p.Gln1513His)
c.4500G>C (p.Gln1500His)
c.4446G>C (p.Gln1482His)
c.4350G>C (p.Gln1450His)
c.4320G>C (p.Gln1440His)
c.4245G>C (p.Gln1415His)
c.4143G>C (p.Gln1381His)
c.3774G>C (p.Gln1258His)
 ClinVar dbSNP
5g.112840217G=CA1573470264APCc.4677G= (p.Gln1559=)
c.*4629G= (n.*4629G=)
c.4569G= (p.Gln1523=)
c.4623G= (p.Gln1541=)
c.*3945G= (n.*3945G=)
c.230+11245G=
c.4653G= (p.Gln1551=)
c.4548G= (p.Gln1516=)
c.4539G= (p.Gln1513=)
c.4500G= (p.Gln1500=)
c.4446G= (p.Gln1482=)
c.4350G= (p.Gln1450=)
c.4320G= (p.Gln1440=)
c.4245G= (p.Gln1415=)
c.4143G= (p.Gln1381=)
c.3774G= (p.Gln1258=)
5g.112840217G>TCA16031460APCc.4677G>T (p.Gln1559His)
c.*4629G>T (n.*4629G>T)
c.4569G>T (p.Gln1523His)
c.4623G>T (p.Gln1541His)
c.*3945G>T (n.*3945G>T)
c.230+11245G>T
c.4653G>T (p.Gln1551His)
c.4548G>T (p.Gln1516His)
c.4539G>T (p.Gln1513His)
c.4500G>T (p.Gln1500His)
c.4446G>T (p.Gln1482His)
c.4350G>T (p.Gln1450His)
c.4320G>T (p.Gln1440His)
c.4245G>T (p.Gln1415His)
c.4143G>T (p.Gln1381His)
c.3774G>T (p.Gln1258His)
 ClinVar dbSNP
5g.112840218C>ACA16031461APCc.4678C>A (p.Pro1560Thr)
c.*4630C>A (n.*4630C>A)
c.4570C>A (p.Pro1524Thr)
c.4624C>A (p.Pro1542Thr)
c.*3946C>A (n.*3946C>A)
c.230+11246C>A
c.4654C>A (p.Pro1552Thr)
c.4549C>A (p.Pro1517Thr)
c.4540C>A (p.Pro1514Thr)
c.4501C>A (p.Pro1501Thr)
c.4447C>A (p.Pro1483Thr)
c.4351C>A (p.Pro1451Thr)
c.4321C>A (p.Pro1441Thr)
c.4246C>A (p.Pro1416Thr)
c.4144C>A (p.Pro1382Thr)
c.3775C>A (p.Pro1259Thr)
 dbSNP
5g.112840218C>GCA16031462APCc.4678C>G (p.Pro1560Ala)
c.*4630C>G (n.*4630C>G)
c.4570C>G (p.Pro1524Ala)
c.4624C>G (p.Pro1542Ala)
c.*3946C>G (n.*3946C>G)
c.230+11246C>G
c.4654C>G (p.Pro1552Ala)
c.4549C>G (p.Pro1517Ala)
c.4540C>G (p.Pro1514Ala)
c.4501C>G (p.Pro1501Ala)
c.4447C>G (p.Pro1483Ala)
c.4351C>G (p.Pro1451Ala)
c.4321C>G (p.Pro1441Ala)
c.4246C>G (p.Pro1416Ala)
c.4144C>G (p.Pro1382Ala)
c.3775C>G (p.Pro1259Ala)
 dbSNP
5g.112840218C>TCA16031463APCc.4678C>T (p.Pro1560Ser)
c.*4630C>T (n.*4630C>T)
c.4570C>T (p.Pro1524Ser)
c.4624C>T (p.Pro1542Ser)
c.*3946C>T (n.*3946C>T)
c.230+11246C>T
c.4654C>T (p.Pro1552Ser)
c.4549C>T (p.Pro1517Ser)
c.4540C>T (p.Pro1514Ser)
c.4501C>T (p.Pro1501Ser)
c.4447C>T (p.Pro1483Ser)
c.4351C>T (p.Pro1451Ser)
c.4321C>T (p.Pro1441Ser)
c.4246C>T (p.Pro1416Ser)
c.4144C>T (p.Pro1382Ser)
c.3775C>T (p.Pro1259Ser)
 dbSNP
5g.112840219delCA645543958APCc.4679del (p.Pro1560LeufsTer23)
c.*4631del (n.*4631del)
c.4571del (p.Pro1524LeufsTer23)
c.4625del (p.Pro1542LeufsTer23)
c.*3947del (n.*3947del)
c.230+11247del
c.4655del (p.Pro1552LeufsTer23)
c.4550del (p.Pro1517LeufsTer23)
c.4541del (p.Pro1514LeufsTer23)
c.4502del (p.Pro1501LeufsTer23)
c.4448del (p.Pro1483LeufsTer23)
c.4352del (p.Pro1451LeufsTer23)
c.4322del (p.Pro1441LeufsTer23)
c.4247del (p.Pro1416LeufsTer23)
c.4145del (p.Pro1382LeufsTer23)
c.3776del (p.Pro1259LeufsTer23)
 COSMIC
5g.112840219C>ACA16031464APCc.4679C>A (p.Pro1560His)
c.*4631C>A (n.*4631C>A)
c.4571C>A (p.Pro1524His)
c.4625C>A (p.Pro1542His)
c.*3947C>A (n.*3947C>A)
c.230+11247C>A
c.4655C>A (p.Pro1552His)
c.4550C>A (p.Pro1517His)
c.4541C>A (p.Pro1514His)
c.4502C>A (p.Pro1501His)
c.4448C>A (p.Pro1483His)
c.4352C>A (p.Pro1451His)
c.4322C>A (p.Pro1441His)
c.4247C>A (p.Pro1416His)
c.4145C>A (p.Pro1382His)
c.3776C>A (p.Pro1259His)
 dbSNP
5g.112840219C=CA1573470273APCc.4679C= (p.Pro1560=)
c.*4631C= (n.*4631C=)
c.4571C= (p.Pro1524=)
c.4625C= (p.Pro1542=)
c.*3947C= (n.*3947C=)
c.230+11247C=
c.4655C= (p.Pro1552=)
c.4550C= (p.Pro1517=)
c.4541C= (p.Pro1514=)
c.4502C= (p.Pro1501=)
c.4448C= (p.Pro1483=)
c.4352C= (p.Pro1451=)
c.4322C= (p.Pro1441=)
c.4247C= (p.Pro1416=)
c.4145C= (p.Pro1382=)
c.3776C= (p.Pro1259=)
5g.112840219C>GCA16031465APCc.4679C>G (p.Pro1560Arg)
c.*4631C>G (n.*4631C>G)
c.4571C>G (p.Pro1524Arg)
c.4625C>G (p.Pro1542Arg)
c.*3947C>G (n.*3947C>G)
c.230+11247C>G
c.4655C>G (p.Pro1552Arg)
c.4550C>G (p.Pro1517Arg)
c.4541C>G (p.Pro1514Arg)
c.4502C>G (p.Pro1501Arg)
c.4448C>G (p.Pro1483Arg)
c.4352C>G (p.Pro1451Arg)
c.4322C>G (p.Pro1441Arg)
c.4247C>G (p.Pro1416Arg)
c.4145C>G (p.Pro1382Arg)
c.3776C>G (p.Pro1259Arg)
 ClinVar dbSNP gnomAD v4
5g.112840219C>TCA16031466APCc.4679C>T (p.Pro1560Leu)
c.*4631C>T (n.*4631C>T)
c.4571C>T (p.Pro1524Leu)
c.4625C>T (p.Pro1542Leu)
c.*3947C>T (n.*3947C>T)
c.230+11247C>T
c.4655C>T (p.Pro1552Leu)
c.4550C>T (p.Pro1517Leu)
c.4541C>T (p.Pro1514Leu)
c.4502C>T (p.Pro1501Leu)
c.4448C>T (p.Pro1483Leu)
c.4352C>T (p.Pro1451Leu)
c.4322C>T (p.Pro1441Leu)
c.4247C>T (p.Pro1416Leu)
c.4145C>T (p.Pro1382Leu)
c.3776C>T (p.Pro1259Leu)
 dbSNP
5g.112840220T>ACA446206630APCc.4680T>A (p.Pro1560=)
c.*4632T>A (n.*4632T>A)
c.4572T>A (p.Pro1524=)
c.4626T>A (p.Pro1542=)
c.*3948T>A (n.*3948T>A)
c.230+11248T>A
c.4656T>A (p.Pro1552=)
c.4551T>A (p.Pro1517=)
c.4542T>A (p.Pro1514=)
c.4503T>A (p.Pro1501=)
c.4449T>A (p.Pro1483=)
c.4353T>A (p.Pro1451=)
c.4323T>A (p.Pro1441=)
c.4248T>A (p.Pro1416=)
c.4146T>A (p.Pro1382=)
c.3777T>A (p.Pro1259=)
 dbSNP
5g.112840220T>CCA446206631APCc.4680T>C (p.Pro1560=)
c.*4632T>C (n.*4632T>C)
c.4572T>C (p.Pro1524=)
c.4626T>C (p.Pro1542=)
c.*3948T>C (n.*3948T>C)
c.230+11248T>C
c.4656T>C (p.Pro1552=)
c.4551T>C (p.Pro1517=)
c.4542T>C (p.Pro1514=)
c.4503T>C (p.Pro1501=)
c.4449T>C (p.Pro1483=)
c.4353T>C (p.Pro1451=)
c.4323T>C (p.Pro1441=)
c.4248T>C (p.Pro1416=)
c.4146T>C (p.Pro1382=)
c.3777T>C (p.Pro1259=)
5g.112840220T>GCA446206632APCc.4680T>G (p.Pro1560=)
c.*4632T>G (n.*4632T>G)
c.4572T>G (p.Pro1524=)
c.4626T>G (p.Pro1542=)
c.*3948T>G (n.*3948T>G)
c.230+11248T>G
c.4656T>G (p.Pro1552=)
c.4551T>G (p.Pro1517=)
c.4542T>G (p.Pro1514=)
c.4503T>G (p.Pro1501=)
c.4449T>G (p.Pro1483=)
c.4353T>G (p.Pro1451=)
c.4323T>G (p.Pro1441=)
c.4248T>G (p.Pro1416=)
c.4146T>G (p.Pro1382=)
c.3777T>G (p.Pro1259=)
 ClinVar
5g.112840220_112840224delCA658760758APCc.4680_4684del (p.Lys1561IlefsTer3)
c.*4632_*4636del (n.*4632_*4636del)
c.4572_4576del (p.Lys1525IlefsTer3)
c.4626_4630del (p.Lys1543IlefsTer3)
c.*3948_*3952del (n.*3948_*3952del)
c.230+11248_230+11252del
c.4656_4660del (p.Lys1553IlefsTer3)
c.4551_4555del (p.Lys1518IlefsTer3)
c.4542_4546del (p.Lys1515IlefsTer3)
c.4503_4507del (p.Lys1502IlefsTer3)
c.4449_4453del (p.Lys1484IlefsTer3)
c.4353_4357del (p.Lys1452IlefsTer3)
c.4323_4327del (p.Lys1442IlefsTer3)
c.4248_4252del (p.Lys1417IlefsTer3)
c.4146_4150del (p.Lys1383IlefsTer3)
c.3777_3781del (p.Lys1260IlefsTer3)
5g.112840221A=CA1573470281APCc.4681A= (p.Lys1561=)
c.*4633A= (n.*4633A=)
c.4573A= (p.Lys1525=)
c.4627A= (p.Lys1543=)
c.*3949A= (n.*3949A=)
c.230+11249A=
c.4657A= (p.Lys1553=)
c.4552A= (p.Lys1518=)
c.4543A= (p.Lys1515=)
c.4504A= (p.Lys1502=)
c.4450A= (p.Lys1484=)
c.4354A= (p.Lys1452=)
c.4324A= (p.Lys1442=)
c.4249A= (p.Lys1417=)
c.4147A= (p.Lys1383=)
c.3778A= (p.Lys1260=)
5g.112840221A>CCA16031467APCc.4681A>C (p.Lys1561Gln)
c.*4633A>C (n.*4633A>C)
c.4573A>C (p.Lys1525Gln)
c.4627A>C (p.Lys1543Gln)
c.*3949A>C (n.*3949A>C)
c.230+11249A>C
c.4657A>C (p.Lys1553Gln)
c.4552A>C (p.Lys1518Gln)
c.4543A>C (p.Lys1515Gln)
c.4504A>C (p.Lys1502Gln)
c.4450A>C (p.Lys1484Gln)
c.4354A>C (p.Lys1452Gln)
c.4324A>C (p.Lys1442Gln)
c.4249A>C (p.Lys1417Gln)
c.4147A>C (p.Lys1383Gln)
c.3778A>C (p.Lys1260Gln)
5g.112840221A>GCA10578378APCc.4681A>G (p.Lys1561Glu)
c.*4633A>G (n.*4633A>G)
c.4573A>G (p.Lys1525Glu)
c.4627A>G (p.Lys1543Glu)
c.*3949A>G (n.*3949A>G)
c.230+11249A>G
c.4657A>G (p.Lys1553Glu)
c.4552A>G (p.Lys1518Glu)
c.4543A>G (p.Lys1515Glu)
c.4504A>G (p.Lys1502Glu)
c.4450A>G (p.Lys1484Glu)
c.4354A>G (p.Lys1452Glu)
c.4324A>G (p.Lys1442Glu)
c.4249A>G (p.Lys1417Glu)
c.4147A>G (p.Lys1383Glu)
c.3778A>G (p.Lys1260Glu)
 ClinVar dbSNP gnomAD v4
5g.112840221A>TCA16031468APCc.4681A>T (p.Lys1561Ter)
c.*4633A>T (n.*4633A>T)
c.4573A>T (p.Lys1525Ter)
c.4627A>T (p.Lys1543Ter)
c.*3949A>T (n.*3949A>T)
c.230+11249A>T
c.4657A>T (p.Lys1553Ter)
c.4552A>T (p.Lys1518Ter)
c.4543A>T (p.Lys1515Ter)
c.4504A>T (p.Lys1502Ter)
c.4450A>T (p.Lys1484Ter)
c.4354A>T (p.Lys1452Ter)
c.4324A>T (p.Lys1442Ter)
c.4249A>T (p.Lys1417Ter)
c.4147A>T (p.Lys1383Ter)
c.3778A>T (p.Lys1260Ter)
 dbSNP
5g.112840223delCA645543959APCc.4683del (p.Glu1562AsnfsTer21)
c.*4635del (n.*4635del)
c.4575del (p.Glu1526AsnfsTer21)
c.4629del (p.Glu1544AsnfsTer21)
c.*3951del (n.*3951del)
c.230+11251del
c.4659del (p.Glu1554AsnfsTer21)
c.4554del (p.Glu1519AsnfsTer21)
c.4545del (p.Glu1516AsnfsTer21)
c.4506del (p.Glu1503AsnfsTer21)
c.4452del (p.Glu1485AsnfsTer21)
c.4356del (p.Glu1453AsnfsTer21)
c.4326del (p.Glu1443AsnfsTer21)
c.4251del (p.Glu1418AsnfsTer21)
c.4149del (p.Glu1384AsnfsTer21)
c.3780del (p.Glu1261AsnfsTer21)
 COSMIC
5g.112840223_112840226delCA645543960APCc.4683_4686del (p.Lys1561AsnfsTer21)
c.*4635_*4638del (n.*4635_*4638del)
c.4575_4578del (p.Lys1525AsnfsTer21)
c.4629_4632del (p.Lys1543AsnfsTer21)
c.*3951_*3954del (n.*3951_*3954del)
c.230+11251_230+11254del
c.4659_4662del (p.Lys1553AsnfsTer21)
c.4554_4557del (p.Lys1518AsnfsTer21)
c.4545_4548del (p.Lys1515AsnfsTer21)
c.4506_4509del (p.Lys1502AsnfsTer21)
c.4452_4455del (p.Lys1484AsnfsTer21)
c.4356_4359del (p.Lys1452AsnfsTer21)
c.4326_4329del (p.Lys1442AsnfsTer21)
c.4251_4254del (p.Lys1417AsnfsTer21)
c.4149_4152del (p.Lys1383AsnfsTer21)
c.3780_3783del (p.Lys1260AsnfsTer21)
 COSMIC
5g.112840222A>CCA16031469APCc.4682A>C (p.Lys1561Thr)
c.*4634A>C (n.*4634A>C)
c.4574A>C (p.Lys1525Thr)
c.4628A>C (p.Lys1543Thr)
c.*3950A>C (n.*3950A>C)
c.230+11250A>C
c.4658A>C (p.Lys1553Thr)
c.4553A>C (p.Lys1518Thr)
c.4544A>C (p.Lys1515Thr)
c.4505A>C (p.Lys1502Thr)
c.4451A>C (p.Lys1484Thr)
c.4355A>C (p.Lys1452Thr)
c.4325A>C (p.Lys1442Thr)
c.4250A>C (p.Lys1417Thr)
c.4148A>C (p.Lys1383Thr)
c.3779A>C (p.Lys1260Thr)
5g.112840222A>GCA16031470APCc.4682A>G (p.Lys1561Arg)
c.*4634A>G (n.*4634A>G)
c.4574A>G (p.Lys1525Arg)
c.4628A>G (p.Lys1543Arg)
c.*3950A>G (n.*3950A>G)
c.230+11250A>G
c.4658A>G (p.Lys1553Arg)
c.4553A>G (p.Lys1518Arg)
c.4544A>G (p.Lys1515Arg)
c.4505A>G (p.Lys1502Arg)
c.4451A>G (p.Lys1484Arg)
c.4355A>G (p.Lys1452Arg)
c.4325A>G (p.Lys1442Arg)
c.4250A>G (p.Lys1417Arg)
c.4148A>G (p.Lys1383Arg)
c.3779A>G (p.Lys1260Arg)
 dbSNP
5g.112840222A>TCA16031471APCc.4682A>T (p.Lys1561Ile)
c.*4634A>T (n.*4634A>T)
c.4574A>T (p.Lys1525Ile)
c.4628A>T (p.Lys1543Ile)
c.*3950A>T (n.*3950A>T)
c.230+11250A>T
c.4658A>T (p.Lys1553Ile)
c.4553A>T (p.Lys1518Ile)
c.4544A>T (p.Lys1515Ile)
c.4505A>T (p.Lys1502Ile)
c.4451A>T (p.Lys1484Ile)
c.4355A>T (p.Lys1452Ile)
c.4325A>T (p.Lys1442Ile)
c.4250A>T (p.Lys1417Ile)
c.4148A>T (p.Lys1383Ile)
c.3779A>T (p.Lys1260Ile)
 dbSNP
5g.112840223A=CA1573470288APCc.4683A= (p.Lys1561=)
c.*4635A= (n.*4635A=)
c.4575A= (p.Lys1525=)
c.4629A= (p.Lys1543=)
c.*3951A= (n.*3951A=)
c.230+11251A=
c.4659A= (p.Lys1553=)
c.4554A= (p.Lys1518=)
c.4545A= (p.Lys1515=)
c.4506A= (p.Lys1502=)
c.4452A= (p.Lys1484=)
c.4356A= (p.Lys1452=)
c.4326A= (p.Lys1442=)
c.4251A= (p.Lys1417=)
c.4149A= (p.Lys1383=)
c.3780A= (p.Lys1260=)
5g.112840223A>CCA16031472APCc.4683A>C (p.Lys1561Asn)
c.*4635A>C (n.*4635A>C)
c.4575A>C (p.Lys1525Asn)
c.4629A>C (p.Lys1543Asn)
c.*3951A>C (n.*3951A>C)
c.230+11251A>C
c.4659A>C (p.Lys1553Asn)
c.4554A>C (p.Lys1518Asn)
c.4545A>C (p.Lys1515Asn)
c.4506A>C (p.Lys1502Asn)
c.4452A>C (p.Lys1484Asn)
c.4356A>C (p.Lys1452Asn)
c.4326A>C (p.Lys1442Asn)
c.4251A>C (p.Lys1417Asn)
c.4149A>C (p.Lys1383Asn)
c.3780A>C (p.Lys1260Asn)
5g.112840223A>GCA446206633APCc.4683A>G (p.Lys1561=)
c.*4635A>G (n.*4635A>G)
c.4575A>G (p.Lys1525=)
c.4629A>G (p.Lys1543=)
c.*3951A>G (n.*3951A>G)
c.230+11251A>G
c.4659A>G (p.Lys1553=)
c.4554A>G (p.Lys1518=)
c.4545A>G (p.Lys1515=)
c.4506A>G (p.Lys1502=)
c.4452A>G (p.Lys1484=)
c.4356A>G (p.Lys1452=)
c.4326A>G (p.Lys1442=)
c.4251A>G (p.Lys1417=)
c.4149A>G (p.Lys1383=)
c.3780A>G (p.Lys1260=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840223A>TCA16031473APCc.4683A>T (p.Lys1561Asn)
c.*4635A>T (n.*4635A>T)
c.4575A>T (p.Lys1525Asn)
c.4629A>T (p.Lys1543Asn)
c.*3951A>T (n.*3951A>T)
c.230+11251A>T
c.4659A>T (p.Lys1553Asn)
c.4554A>T (p.Lys1518Asn)
c.4545A>T (p.Lys1515Asn)
c.4506A>T (p.Lys1502Asn)
c.4452A>T (p.Lys1484Asn)
c.4356A>T (p.Lys1452Asn)
c.4326A>T (p.Lys1442Asn)
c.4251A>T (p.Lys1417Asn)
c.4149A>T (p.Lys1383Asn)
c.3780A>T (p.Lys1260Asn)
 dbSNP
5g.112840224G>ACA16031474APCc.4684G>A (p.Glu1562Lys)
c.*4636G>A (n.*4636G>A)
c.4576G>A (p.Glu1526Lys)
c.4630G>A (p.Glu1544Lys)
c.*3952G>A (n.*3952G>A)
c.230+11252G>A
c.4660G>A (p.Glu1554Lys)
c.4555G>A (p.Glu1519Lys)
c.4546G>A (p.Glu1516Lys)
c.4507G>A (p.Glu1503Lys)
c.4453G>A (p.Glu1485Lys)
c.4357G>A (p.Glu1453Lys)
c.4327G>A (p.Glu1443Lys)
c.4252G>A (p.Glu1418Lys)
c.4150G>A (p.Glu1384Lys)
c.3781G>A (p.Glu1261Lys)
 dbSNP COSMIC
5g.112840224G>CCA16031475APCc.4684G>C (p.Glu1562Gln)
c.*4636G>C (n.*4636G>C)
c.4576G>C (p.Glu1526Gln)
c.4630G>C (p.Glu1544Gln)
c.*3952G>C (n.*3952G>C)
c.230+11252G>C
c.4660G>C (p.Glu1554Gln)
c.4555G>C (p.Glu1519Gln)
c.4546G>C (p.Glu1516Gln)
c.4507G>C (p.Glu1503Gln)
c.4453G>C (p.Glu1485Gln)
c.4357G>C (p.Glu1453Gln)
c.4327G>C (p.Glu1443Gln)
c.4252G>C (p.Glu1418Gln)
c.4150G>C (p.Glu1384Gln)
c.3781G>C (p.Glu1261Gln)
 ClinVar dbSNP COSMIC
5g.112840224G>TCA16031476APCc.4684G>T (p.Glu1562Ter)
c.*4636G>T (n.*4636G>T)
c.4576G>T (p.Glu1526Ter)
c.4630G>T (p.Glu1544Ter)
c.*3952G>T (n.*3952G>T)
c.230+11252G>T
c.4660G>T (p.Glu1554Ter)
c.4555G>T (p.Glu1519Ter)
c.4546G>T (p.Glu1516Ter)
c.4507G>T (p.Glu1503Ter)
c.4453G>T (p.Glu1485Ter)
c.4357G>T (p.Glu1453Ter)
c.4327G>T (p.Glu1443Ter)
c.4252G>T (p.Glu1418Ter)
c.4150G>T (p.Glu1384Ter)
c.3781G>T (p.Glu1261Ter)
 dbSNP COSMIC
5g.112840225A>CCA16031477APCc.4685A>C (p.Glu1562Ala)
c.*4637A>C (n.*4637A>C)
c.4577A>C (p.Glu1526Ala)
c.4631A>C (p.Glu1544Ala)
c.*3953A>C (n.*3953A>C)
c.230+11253A>C
c.4661A>C (p.Glu1554Ala)
c.4556A>C (p.Glu1519Ala)
c.4547A>C (p.Glu1516Ala)
c.4508A>C (p.Glu1503Ala)
c.4454A>C (p.Glu1485Ala)
c.4358A>C (p.Glu1453Ala)
c.4328A>C (p.Glu1443Ala)
c.4253A>C (p.Glu1418Ala)
c.4151A>C (p.Glu1384Ala)
c.3782A>C (p.Glu1261Ala)
5g.112840225A>GCA16031478APCc.4685A>G (p.Glu1562Gly)
c.*4637A>G (n.*4637A>G)
c.4577A>G (p.Glu1526Gly)
c.4631A>G (p.Glu1544Gly)
c.*3953A>G (n.*3953A>G)
c.230+11253A>G
c.4661A>G (p.Glu1554Gly)
c.4556A>G (p.Glu1519Gly)
c.4547A>G (p.Glu1516Gly)
c.4508A>G (p.Glu1503Gly)
c.4454A>G (p.Glu1485Gly)
c.4358A>G (p.Glu1453Gly)
c.4328A>G (p.Glu1443Gly)
c.4253A>G (p.Glu1418Gly)
c.4151A>G (p.Glu1384Gly)
c.3782A>G (p.Glu1261Gly)
5g.112840225A>TCA16031479APCc.4685A>T (p.Glu1562Val)
c.*4637A>T (n.*4637A>T)
c.4577A>T (p.Glu1526Val)
c.4631A>T (p.Glu1544Val)
c.*3953A>T (n.*3953A>T)
c.230+11253A>T
c.4661A>T (p.Glu1554Val)
c.4556A>T (p.Glu1519Val)
c.4547A>T (p.Glu1516Val)
c.4508A>T (p.Glu1503Val)
c.4454A>T (p.Glu1485Val)
c.4358A>T (p.Glu1453Val)
c.4328A>T (p.Glu1443Val)
c.4253A>T (p.Glu1418Val)
c.4151A>T (p.Glu1384Val)
c.3782A>T (p.Glu1261Val)
 dbSNP
5g.112840227_112840230delCA2582341327APCc.4687_4690del (p.Ser1563MetfsTer19)
c.*4639_*4642del (n.*4639_*4642del)
c.4579_4582del (p.Ser1527MetfsTer19)
c.4633_4636del (p.Ser1545MetfsTer19)
c.*3955_*3958del (n.*3955_*3958del)
c.230+11255_230+11258del
c.4663_4666del (p.Ser1555MetfsTer19)
c.4558_4561del (p.Ser1520MetfsTer19)
c.4549_4552del (p.Ser1517MetfsTer19)
c.4510_4513del (p.Ser1504MetfsTer19)
c.4456_4459del (p.Ser1486MetfsTer19)
c.4360_4363del (p.Ser1454MetfsTer19)
c.4330_4333del (p.Ser1444MetfsTer19)
c.4255_4258del (p.Ser1419MetfsTer19)
c.4153_4156del (p.Ser1385MetfsTer19)
c.3784_3787del (p.Ser1262MetfsTer19)
 ClinVar
5g.112840226A>CCA16031480APCc.4686A>C (p.Glu1562Asp)
c.*4638A>C (n.*4638A>C)
c.4578A>C (p.Glu1526Asp)
c.4632A>C (p.Glu1544Asp)
c.*3954A>C (n.*3954A>C)
c.230+11254A>C
c.4662A>C (p.Glu1554Asp)
c.4557A>C (p.Glu1519Asp)
c.4548A>C (p.Glu1516Asp)
c.4509A>C (p.Glu1503Asp)
c.4455A>C (p.Glu1485Asp)
c.4359A>C (p.Glu1453Asp)
c.4329A>C (p.Glu1443Asp)
c.4254A>C (p.Glu1418Asp)
c.4152A>C (p.Glu1384Asp)
c.3783A>C (p.Glu1261Asp)
 ClinVar
5g.112840226A>GCA446206634APCc.4686A>G (p.Glu1562=)
c.*4638A>G (n.*4638A>G)
c.4578A>G (p.Glu1526=)
c.4632A>G (p.Glu1544=)
c.*3954A>G (n.*3954A>G)
c.230+11254A>G
c.4662A>G (p.Glu1554=)
c.4557A>G (p.Glu1519=)
c.4548A>G (p.Glu1516=)
c.4509A>G (p.Glu1503=)
c.4455A>G (p.Glu1485=)
c.4359A>G (p.Glu1453=)
c.4329A>G (p.Glu1443=)
c.4254A>G (p.Glu1418=)
c.4152A>G (p.Glu1384=)
c.3783A>G (p.Glu1261=)
 ClinVar dbSNP gnomAD v4
5g.112840226A>TCA16031481APCc.4686A>T (p.Glu1562Asp)
c.*4638A>T (n.*4638A>T)
c.4578A>T (p.Glu1526Asp)
c.4632A>T (p.Glu1544Asp)
c.*3954A>T (n.*3954A>T)
c.230+11254A>T
c.4662A>T (p.Glu1554Asp)
c.4557A>T (p.Glu1519Asp)
c.4548A>T (p.Glu1516Asp)
c.4509A>T (p.Glu1503Asp)
c.4455A>T (p.Glu1485Asp)
c.4359A>T (p.Glu1453Asp)
c.4329A>T (p.Glu1443Asp)
c.4254A>T (p.Glu1418Asp)
c.4152A>T (p.Glu1384Asp)
c.3783A>T (p.Glu1261Asp)
5g.112840227T>ACA16031482APCc.4687T>A (p.Ser1563Thr)
c.*4639T>A (n.*4639T>A)
c.4579T>A (p.Ser1527Thr)
c.4633T>A (p.Ser1545Thr)
c.*3955T>A (n.*3955T>A)
c.230+11255T>A
c.4663T>A (p.Ser1555Thr)
c.4558T>A (p.Ser1520Thr)
c.4549T>A (p.Ser1517Thr)
c.4510T>A (p.Ser1504Thr)
c.4456T>A (p.Ser1486Thr)
c.4360T>A (p.Ser1454Thr)
c.4330T>A (p.Ser1444Thr)
c.4255T>A (p.Ser1419Thr)
c.4153T>A (p.Ser1385Thr)
c.3784T>A (p.Ser1262Thr)
 ClinVar dbSNP
5g.112840227T>CCA16031483APCc.4687T>C (p.Ser1563Pro)
c.*4639T>C (n.*4639T>C)
c.4579T>C (p.Ser1527Pro)
c.4633T>C (p.Ser1545Pro)
c.*3955T>C (n.*3955T>C)
c.230+11255T>C
c.4663T>C (p.Ser1555Pro)
c.4558T>C (p.Ser1520Pro)
c.4549T>C (p.Ser1517Pro)
c.4510T>C (p.Ser1504Pro)
c.4456T>C (p.Ser1486Pro)
c.4360T>C (p.Ser1454Pro)
c.4330T>C (p.Ser1444Pro)
c.4255T>C (p.Ser1419Pro)
c.4153T>C (p.Ser1385Pro)
c.3784T>C (p.Ser1262Pro)
 ClinVar dbSNP
5g.112840227T>GCA16031484APCc.4687T>G (p.Ser1563Ala)
c.*4639T>G (n.*4639T>G)
c.4579T>G (p.Ser1527Ala)
c.4633T>G (p.Ser1545Ala)
c.*3955T>G (n.*3955T>G)
c.230+11255T>G
c.4663T>G (p.Ser1555Ala)
c.4558T>G (p.Ser1520Ala)
c.4549T>G (p.Ser1517Ala)
c.4510T>G (p.Ser1504Ala)
c.4456T>G (p.Ser1486Ala)
c.4360T>G (p.Ser1454Ala)
c.4330T>G (p.Ser1444Ala)
c.4255T>G (p.Ser1419Ala)
c.4153T>G (p.Ser1385Ala)
c.3784T>G (p.Ser1262Ala)
 ClinVar dbSNP
5g.112840228C>ACA16031485APCc.4688C>A (p.Ser1563Ter)
c.*4640C>A (n.*4640C>A)
c.4580C>A (p.Ser1527Ter)
c.4634C>A (p.Ser1545Ter)
c.*3956C>A (n.*3956C>A)
c.230+11256C>A
c.4664C>A (p.Ser1555Ter)
c.4559C>A (p.Ser1520Ter)
c.4550C>A (p.Ser1517Ter)
c.4511C>A (p.Ser1504Ter)
c.4457C>A (p.Ser1486Ter)
c.4361C>A (p.Ser1454Ter)
c.4331C>A (p.Ser1444Ter)
c.4256C>A (p.Ser1419Ter)
c.4154C>A (p.Ser1385Ter)
c.3785C>A (p.Ser1262Ter)
 ClinVar dbSNP COSMIC
5g.112840228C=CA1573470295APCc.4688C= (p.Ser1563=)
c.*4640C= (n.*4640C=)
c.4580C= (p.Ser1527=)
c.4634C= (p.Ser1545=)
c.*3956C= (n.*3956C=)
c.230+11256C=
c.4664C= (p.Ser1555=)
c.4559C= (p.Ser1520=)
c.4550C= (p.Ser1517=)
c.4511C= (p.Ser1504=)
c.4457C= (p.Ser1486=)
c.4361C= (p.Ser1454=)
c.4331C= (p.Ser1444=)
c.4256C= (p.Ser1419=)
c.4154C= (p.Ser1385=)
c.3785C= (p.Ser1262=)
5g.112840228C>GCA279684APCc.4688C>G (p.Ser1563Ter)
c.*4640C>G (n.*4640C>G)
c.4580C>G (p.Ser1527Ter)
c.4634C>G (p.Ser1545Ter)
c.*3956C>G (n.*3956C>G)
c.230+11256C>G
c.4664C>G (p.Ser1555Ter)
c.4559C>G (p.Ser1520Ter)
c.4550C>G (p.Ser1517Ter)
c.4511C>G (p.Ser1504Ter)
c.4457C>G (p.Ser1486Ter)
c.4361C>G (p.Ser1454Ter)
c.4331C>G (p.Ser1444Ter)
c.4256C>G (p.Ser1419Ter)
c.4154C>G (p.Ser1385Ter)
c.3785C>G (p.Ser1262Ter)
 ClinVar dbSNP COSMIC
5g.112840228C>TCA16031486APCc.4688C>T (p.Ser1563Leu)
c.*4640C>T (n.*4640C>T)
c.4580C>T (p.Ser1527Leu)
c.4634C>T (p.Ser1545Leu)
c.*3956C>T (n.*3956C>T)
c.230+11256C>T
c.4664C>T (p.Ser1555Leu)
c.4559C>T (p.Ser1520Leu)
c.4550C>T (p.Ser1517Leu)
c.4511C>T (p.Ser1504Leu)
c.4457C>T (p.Ser1486Leu)
c.4361C>T (p.Ser1454Leu)
c.4331C>T (p.Ser1444Leu)
c.4256C>T (p.Ser1419Leu)
c.4154C>T (p.Ser1385Leu)
c.3785C>T (p.Ser1262Leu)
 dbSNP
5g.112840228_112840229delinsCACA1573470306APCc.4688_4689delinsCA (p.Ser1563=)
c.*4640_*4641delinsCA (n.*4640_*4641delinsCA)
c.4580_4581delinsCA (p.Ser1527=)
c.4634_4635delinsCA (p.Ser1545=)
c.*3956_*3957delinsCA (n.*3956_*3957delinsCA)
c.230+11256_230+11257delinsCA
c.4664_4665delinsCA (p.Ser1555=)
c.4559_4560delinsCA (p.Ser1520=)
c.4550_4551delinsCA (p.Ser1517=)
c.4511_4512delinsCA (p.Ser1504=)
c.4457_4458delinsCA (p.Ser1486=)
c.4361_4362delinsCA (p.Ser1454=)
c.4331_4332delinsCA (p.Ser1444=)
c.4256_4257delinsCA (p.Ser1419=)
c.4154_4155delinsCA (p.Ser1385=)
c.3785_3786delinsCA (p.Ser1262=)
5g.112840228_112840233delinsCAAATGCA1573470303APCc.4688_4693delinsCAAATG (p.Ser1563=)
c.*4640_*4645delinsCAAATG (n.*4640_*4645delinsCAAATG)
c.4580_4585delinsCAAATG (p.Ser1527=)
c.4634_4639delinsCAAATG (p.Ser1545=)
c.*3956_*3961delinsCAAATG (n.*3956_*3961delinsCAAATG)
c.230+11256_230+11261delinsCAAATG
c.4664_4669delinsCAAATG (p.Ser1555=)
c.4559_4564delinsCAAATG (p.Ser1520=)
c.4550_4555delinsCAAATG (p.Ser1517=)
c.4511_4516delinsCAAATG (p.Ser1504=)
c.4457_4462delinsCAAATG (p.Ser1486=)
c.4361_4366delinsCAAATG (p.Ser1454=)
c.4331_4336delinsCAAATG (p.Ser1444=)
c.4256_4261delinsCAAATG (p.Ser1419=)
c.4154_4159delinsCAAATG (p.Ser1385=)
c.3785_3790delinsCAAATG (p.Ser1262=)
5g.112840229A>CCA446206635APCc.4689A>C (p.Ser1563=)
c.*4641A>C (n.*4641A>C)
c.4581A>C (p.Ser1527=)
c.4635A>C (p.Ser1545=)
c.*3957A>C (n.*3957A>C)
c.230+11257A>C
c.4665A>C (p.Ser1555=)
c.4560A>C (p.Ser1520=)
c.4551A>C (p.Ser1517=)
c.4512A>C (p.Ser1504=)
c.4458A>C (p.Ser1486=)
c.4362A>C (p.Ser1454=)
c.4332A>C (p.Ser1444=)
c.4257A>C (p.Ser1419=)
c.4155A>C (p.Ser1385=)
c.3786A>C (p.Ser1262=)
5g.112840229A>GCA446206639APCc.4689A>G (p.Ser1563=)
c.*4641A>G (n.*4641A>G)
c.4581A>G (p.Ser1527=)
c.4635A>G (p.Ser1545=)
c.*3957A>G (n.*3957A>G)
c.230+11257A>G
c.4665A>G (p.Ser1555=)
c.4560A>G (p.Ser1520=)
c.4551A>G (p.Ser1517=)
c.4512A>G (p.Ser1504=)
c.4458A>G (p.Ser1486=)
c.4362A>G (p.Ser1454=)
c.4332A>G (p.Ser1444=)
c.4257A>G (p.Ser1419=)
c.4155A>G (p.Ser1385=)
c.3786A>G (p.Ser1262=)
 ClinVar dbSNP
5g.112840229A>TCA446206638APCc.4689A>T (p.Ser1563=)
c.*4641A>T (n.*4641A>T)
c.4581A>T (p.Ser1527=)
c.4635A>T (p.Ser1545=)
c.*3957A>T (n.*3957A>T)
c.230+11257A>T
c.4665A>T (p.Ser1555=)
c.4560A>T (p.Ser1520=)
c.4551A>T (p.Ser1517=)
c.4512A>T (p.Ser1504=)
c.4458A>T (p.Ser1486=)
c.4362A>T (p.Ser1454=)
c.4332A>T (p.Ser1444=)
c.4257A>T (p.Ser1419=)
c.4155A>T (p.Ser1385=)
c.3786A>T (p.Ser1262=)
 dbSNP
5g.112840231delCA446206636APCc.4691del (p.Asn1564MetfsTer19)
c.*4643del (n.*4643del)
c.4583del (p.Asn1528MetfsTer19)
c.4637del (p.Asn1546MetfsTer19)
c.*3959del (n.*3959del)
c.230+11259del
c.4667del (p.Asn1556MetfsTer19)
c.4562del (p.Asn1521MetfsTer19)
c.4553del (p.Asn1518MetfsTer19)
c.4514del (p.Asn1505MetfsTer19)
c.4460del (p.Asn1487MetfsTer19)
c.4364del (p.Asn1455MetfsTer19)
c.4334del (p.Asn1445MetfsTer19)
c.4259del (p.Asn1420MetfsTer19)
c.4157del (p.Asn1386MetfsTer19)
c.3788del (p.Asn1263MetfsTer19)
 dbSNP COSMIC
5g.112840232_112840236delCA446206637APCc.4692_4696del (p.Asn1564LysfsTer11)
c.*4644_*4648del (n.*4644_*4648del)
c.4584_4588del (p.Asn1528LysfsTer11)
c.4638_4642del (p.Asn1546LysfsTer11)
c.*3960_*3964del (n.*3960_*3964del)
c.230+11260_230+11264del
c.4668_4672del (p.Asn1556LysfsTer11)
c.4563_4567del (p.Asn1521LysfsTer11)
c.4554_4558del (p.Asn1518LysfsTer11)
c.4515_4519del (p.Asn1505LysfsTer11)
c.4461_4465del (p.Asn1487LysfsTer11)
c.4365_4369del (p.Asn1455LysfsTer11)
c.4335_4339del (p.Asn1445LysfsTer11)
c.4260_4264del (p.Asn1420LysfsTer11)
c.4158_4162del (p.Asn1386LysfsTer11)
c.3789_3793del (p.Asn1263LysfsTer11)
 ClinVar dbSNP COSMIC
5g.112840230A=CA1573470316APCc.4690A= (p.Asn1564=)
c.*4642A= (n.*4642A=)
c.4582A= (p.Asn1528=)
c.4636A= (p.Asn1546=)
c.*3958A= (n.*3958A=)
c.230+11258A=
c.4666A= (p.Asn1556=)
c.4561A= (p.Asn1521=)
c.4552A= (p.Asn1518=)
c.4513A= (p.Asn1505=)
c.4459A= (p.Asn1487=)
c.4363A= (p.Asn1455=)
c.4333A= (p.Asn1445=)
c.4258A= (p.Asn1420=)
c.4156A= (p.Asn1386=)
c.3787A= (p.Asn1263=)
5g.112840230A>CCA16031487APCc.4690A>C (p.Asn1564His)
c.*4642A>C (n.*4642A>C)
c.4582A>C (p.Asn1528His)
c.4636A>C (p.Asn1546His)
c.*3958A>C (n.*3958A>C)
c.230+11258A>C
c.4666A>C (p.Asn1556His)
c.4561A>C (p.Asn1521His)
c.4552A>C (p.Asn1518His)
c.4513A>C (p.Asn1505His)
c.4459A>C (p.Asn1487His)
c.4363A>C (p.Asn1455His)
c.4333A>C (p.Asn1445His)
c.4258A>C (p.Asn1420His)
c.4156A>C (p.Asn1386His)
c.3787A>C (p.Asn1263His)
 ClinVar dbSNP gnomAD v4
5g.112840230A>GCA16031488APCc.4690A>G (p.Asn1564Asp)
c.*4642A>G (n.*4642A>G)
c.4582A>G (p.Asn1528Asp)
c.4636A>G (p.Asn1546Asp)
c.*3958A>G (n.*3958A>G)
c.230+11258A>G
c.4666A>G (p.Asn1556Asp)
c.4561A>G (p.Asn1521Asp)
c.4552A>G (p.Asn1518Asp)
c.4513A>G (p.Asn1505Asp)
c.4459A>G (p.Asn1487Asp)
c.4363A>G (p.Asn1455Asp)
c.4333A>G (p.Asn1445Asp)
c.4258A>G (p.Asn1420Asp)
c.4156A>G (p.Asn1386Asp)
c.3787A>G (p.Asn1263Asp)
 dbSNP
5g.112840230A>TCA16031489APCc.4690A>T (p.Asn1564Tyr)
c.*4642A>T (n.*4642A>T)
c.4582A>T (p.Asn1528Tyr)
c.4636A>T (p.Asn1546Tyr)
c.*3958A>T (n.*3958A>T)
c.230+11258A>T
c.4666A>T (p.Asn1556Tyr)
c.4561A>T (p.Asn1521Tyr)
c.4552A>T (p.Asn1518Tyr)
c.4513A>T (p.Asn1505Tyr)
c.4459A>T (p.Asn1487Tyr)
c.4363A>T (p.Asn1455Tyr)
c.4333A>T (p.Asn1445Tyr)
c.4258A>T (p.Asn1420Tyr)
c.4156A>T (p.Asn1386Tyr)
c.3787A>T (p.Asn1263Tyr)
 dbSNP
5g.112840230_112840231insGCA645543961APCc.4690_4691insG (p.Asn1564ArgfsTer2)
c.*4642_*4643insG (n.*4642_*4643insG)
c.4582_4583insG (p.Asn1528ArgfsTer2)
c.4636_4637insG (p.Asn1546ArgfsTer2)
c.*3958_*3959insG (n.*3958_*3959insG)
c.230+11258_230+11259insG
c.4666_4667insG (p.Asn1556ArgfsTer2)
c.4561_4562insG (p.Asn1521ArgfsTer2)
c.4552_4553insG (p.Asn1518ArgfsTer2)
c.4513_4514insG (p.Asn1505ArgfsTer2)
c.4459_4460insG (p.Asn1487ArgfsTer2)
c.4363_4364insG (p.Asn1455ArgfsTer2)
c.4333_4334insG (p.Asn1445ArgfsTer2)
c.4258_4259insG (p.Asn1420ArgfsTer2)
c.4156_4157insG (p.Asn1386ArgfsTer2)
c.3787_3788insG (p.Asn1263ArgfsTer2)
 COSMIC
5g.112840231A>CCA16031490APCc.4691A>C (p.Asn1564Thr)
c.*4643A>C (n.*4643A>C)
c.4583A>C (p.Asn1528Thr)
c.4637A>C (p.Asn1546Thr)
c.*3959A>C (n.*3959A>C)
c.230+11259A>C
c.4667A>C (p.Asn1556Thr)
c.4562A>C (p.Asn1521Thr)
c.4553A>C (p.Asn1518Thr)
c.4514A>C (p.Asn1505Thr)
c.4460A>C (p.Asn1487Thr)
c.4364A>C (p.Asn1455Thr)
c.4334A>C (p.Asn1445Thr)
c.4259A>C (p.Asn1420Thr)
c.4157A>C (p.Asn1386Thr)
c.3788A>C (p.Asn1263Thr)
 ClinVar dbSNP
5g.112840231A>GCA16031491APCc.4691A>G (p.Asn1564Ser)
c.*4643A>G (n.*4643A>G)
c.4583A>G (p.Asn1528Ser)
c.4637A>G (p.Asn1546Ser)
c.*3959A>G (n.*3959A>G)
c.230+11259A>G
c.4667A>G (p.Asn1556Ser)
c.4562A>G (p.Asn1521Ser)
c.4553A>G (p.Asn1518Ser)
c.4514A>G (p.Asn1505Ser)
c.4460A>G (p.Asn1487Ser)
c.4364A>G (p.Asn1455Ser)
c.4334A>G (p.Asn1445Ser)
c.4259A>G (p.Asn1420Ser)
c.4157A>G (p.Asn1386Ser)
c.3788A>G (p.Asn1263Ser)
 ClinVar dbSNP
5g.112840231A>TCA16031492APCc.4691A>T (p.Asn1564Ile)
c.*4643A>T (n.*4643A>T)
c.4583A>T (p.Asn1528Ile)
c.4637A>T (p.Asn1546Ile)
c.*3959A>T (n.*3959A>T)
c.230+11259A>T
c.4667A>T (p.Asn1556Ile)
c.4562A>T (p.Asn1521Ile)
c.4553A>T (p.Asn1518Ile)
c.4514A>T (p.Asn1505Ile)
c.4460A>T (p.Asn1487Ile)
c.4364A>T (p.Asn1455Ile)
c.4334A>T (p.Asn1445Ile)
c.4259A>T (p.Asn1420Ile)
c.4157A>T (p.Asn1386Ile)
c.3788A>T (p.Asn1263Ile)
 dbSNP
5g.112840231_112840233delinsATGCA1573470325APCc.4691_4693delinsATG (p.Asn1564=)
c.*4643_*4645delinsATG (n.*4643_*4645delinsATG)
c.4583_4585delinsATG (p.Asn1528=)
c.4637_4639delinsATG (p.Asn1546=)
c.*3959_*3961delinsATG (n.*3959_*3961delinsATG)
c.230+11259_230+11261delinsATG
c.4667_4669delinsATG (p.Asn1556=)
c.4562_4564delinsATG (p.Asn1521=)
c.4553_4555delinsATG (p.Asn1518=)
c.4514_4516delinsATG (p.Asn1505=)
c.4460_4462delinsATG (p.Asn1487=)
c.4364_4366delinsATG (p.Asn1455=)
c.4334_4336delinsATG (p.Asn1445=)
c.4259_4261delinsATG (p.Asn1420=)
c.4157_4159delinsATG (p.Asn1386=)
c.3788_3790delinsATG (p.Asn1263=)
5g.112840231_112840232insGCA446206640APCc.4691_4692insG (p.Asn1564LysfsTer2)
c.*4643_*4644insG (n.*4643_*4644insG)
c.4583_4584insG (p.Asn1528LysfsTer2)
c.4637_4638insG (p.Asn1546LysfsTer2)
c.*3959_*3960insG (n.*3959_*3960insG)
c.230+11259_230+11260insG
c.4667_4668insG (p.Asn1556LysfsTer2)
c.4562_4563insG (p.Asn1521LysfsTer2)
c.4553_4554insG (p.Asn1518LysfsTer2)
c.4514_4515insG (p.Asn1505LysfsTer2)
c.4460_4461insG (p.Asn1487LysfsTer2)
c.4364_4365insG (p.Asn1455LysfsTer2)
c.4334_4335insG (p.Asn1445LysfsTer2)
c.4259_4260insG (p.Asn1420LysfsTer2)
c.4157_4158insG (p.Asn1386LysfsTer2)
c.3788_3789insG (p.Asn1263LysfsTer2)
5g.112840232T>ACA16031493APCc.4692T>A (p.Asn1564Lys)
c.*4644T>A (n.*4644T>A)
c.4584T>A (p.Asn1528Lys)
c.4638T>A (p.Asn1546Lys)
c.*3960T>A (n.*3960T>A)
c.230+11260T>A
c.4668T>A (p.Asn1556Lys)
c.4563T>A (p.Asn1521Lys)
c.4554T>A (p.Asn1518Lys)
c.4515T>A (p.Asn1505Lys)
c.4461T>A (p.Asn1487Lys)
c.4365T>A (p.Asn1455Lys)
c.4335T>A (p.Asn1445Lys)
c.4260T>A (p.Asn1420Lys)
c.4158T>A (p.Asn1386Lys)
c.3789T>A (p.Asn1263Lys)
 ClinVar dbSNP
5g.112840232T>CCA446206641APCc.4692T>C (p.Asn1564=)
c.*4644T>C (n.*4644T>C)
c.4584T>C (p.Asn1528=)
c.4638T>C (p.Asn1546=)
c.*3960T>C (n.*3960T>C)
c.230+11260T>C
c.4668T>C (p.Asn1556=)
c.4563T>C (p.Asn1521=)
c.4554T>C (p.Asn1518=)
c.4515T>C (p.Asn1505=)
c.4461T>C (p.Asn1487=)
c.4365T>C (p.Asn1455=)
c.4335T>C (p.Asn1445=)
c.4260T>C (p.Asn1420=)
c.4158T>C (p.Asn1386=)
c.3789T>C (p.Asn1263=)
 ClinVar dbSNP gnomAD v4
5g.112840232T>GCA16031494APCc.4692T>G (p.Asn1564Lys)
c.*4644T>G (n.*4644T>G)
c.4584T>G (p.Asn1528Lys)
c.4638T>G (p.Asn1546Lys)
c.*3960T>G (n.*3960T>G)
c.230+11260T>G
c.4668T>G (p.Asn1556Lys)
c.4563T>G (p.Asn1521Lys)
c.4554T>G (p.Asn1518Lys)
c.4515T>G (p.Asn1505Lys)
c.4461T>G (p.Asn1487Lys)
c.4365T>G (p.Asn1455Lys)
c.4335T>G (p.Asn1445Lys)
c.4260T>G (p.Asn1420Lys)
c.4158T>G (p.Asn1386Lys)
c.3789T>G (p.Asn1263Lys)
 dbSNP
5g.112840232T=CA1573470331APCc.4692T= (p.Asn1564=)
c.*4644T= (n.*4644T=)
c.4584T= (p.Asn1528=)
c.4638T= (p.Asn1546=)
c.*3960T= (n.*3960T=)
c.230+11260T=
c.4668T= (p.Asn1556=)
c.4563T= (p.Asn1521=)
c.4554T= (p.Asn1518=)
c.4515T= (p.Asn1505=)
c.4461T= (p.Asn1487=)
c.4365T= (p.Asn1455=)
c.4335T= (p.Asn1445=)
c.4260T= (p.Asn1420=)
c.4158T= (p.Asn1386=)
c.3789T= (p.Asn1263=)
5g.112840232_112840233delCA913189678APCc.4692_4693del (p.Asn1564LysfsTer12)
c.*4644_*4645del (n.*4644_*4645del)
c.4584_4585del (p.Asn1528LysfsTer12)
c.4638_4639del (p.Asn1546LysfsTer12)
c.*3960_*3961del (n.*3960_*3961del)
c.230+11260_230+11261del
c.4668_4669del (p.Asn1556LysfsTer12)
c.4563_4564del (p.Asn1521LysfsTer12)
c.4554_4555del (p.Asn1518LysfsTer12)
c.4515_4516del (p.Asn1505LysfsTer12)
c.4461_4462del (p.Asn1487LysfsTer12)
c.4365_4366del (p.Asn1455LysfsTer12)
c.4335_4336del (p.Asn1445LysfsTer12)
c.4260_4261del (p.Asn1420LysfsTer12)
c.4158_4159del (p.Asn1386LysfsTer12)
c.3789_3790del (p.Asn1263LysfsTer12)
 ClinVar dbSNP
5g.112840232_112840248delinsTGAAAACCAAGAGAAAGCA1573470337APCc.4692_4708delinsTGAAAACCAAGAGAAAG (p.Asn1564=)
c.*4644_*4660delinsTGAAAACCAAGAGAAAG (n.*4644_*4660delinsTGAAAACCAAGAGAAAG)
c.4584_4600delinsTGAAAACCAAGAGAAAG (p.Asn1528=)
c.4638_4654delinsTGAAAACCAAGAGAAAG (p.Asn1546=)
c.*3960_*3976delinsTGAAAACCAAGAGAAAG (n.*3960_*3976delinsTGAAAACCAAGAGAAAG)
c.230+11260_230+11276delinsTGAAAACCAAGAGAAAG
c.4668_4684delinsTGAAAACCAAGAGAAAG (p.Asn1556=)
c.4563_4579delinsTGAAAACCAAGAGAAAG (p.Asn1521=)
c.4554_4570delinsTGAAAACCAAGAGAAAG (p.Asn1518=)
c.4515_4531delinsTGAAAACCAAGAGAAAG (p.Asn1505=)
c.4461_4477delinsTGAAAACCAAGAGAAAG (p.Asn1487=)
c.4365_4381delinsTGAAAACCAAGAGAAAG (p.Asn1455=)
c.4335_4351delinsTGAAAACCAAGAGAAAG (p.Asn1445=)
c.4260_4276delinsTGAAAACCAAGAGAAAG (p.Asn1420=)
c.4158_4174delinsTGAAAACCAAGAGAAAG (p.Asn1386=)
c.3789_3805delinsTGAAAACCAAGAGAAAG (p.Asn1263=)
5g.112840233G>ACA16031495APCc.4693G>A (p.Glu1565Lys)
c.*4645G>A (n.*4645G>A)
c.4585G>A (p.Glu1529Lys)
c.4639G>A (p.Glu1547Lys)
c.*3961G>A (n.*3961G>A)
c.230+11261G>A
c.4669G>A (p.Glu1557Lys)
c.4564G>A (p.Glu1522Lys)
c.4555G>A (p.Glu1519Lys)
c.4516G>A (p.Glu1506Lys)
c.4462G>A (p.Glu1488Lys)
c.4366G>A (p.Glu1456Lys)
c.4336G>A (p.Glu1446Lys)
c.4261G>A (p.Glu1421Lys)
c.4159G>A (p.Glu1387Lys)
c.3790G>A (p.Glu1264Lys)
 ClinVar dbSNP
5g.112840233G>CCA16031496APCc.4693G>C (p.Glu1565Gln)
c.*4645G>C (n.*4645G>C)
c.4585G>C (p.Glu1529Gln)
c.4639G>C (p.Glu1547Gln)
c.*3961G>C (n.*3961G>C)
c.230+11261G>C
c.4669G>C (p.Glu1557Gln)
c.4564G>C (p.Glu1522Gln)
c.4555G>C (p.Glu1519Gln)
c.4516G>C (p.Glu1506Gln)
c.4462G>C (p.Glu1488Gln)
c.4366G>C (p.Glu1456Gln)
c.4336G>C (p.Glu1446Gln)
c.4261G>C (p.Glu1421Gln)
c.4159G>C (p.Glu1387Gln)
c.3790G>C (p.Glu1264Gln)
5g.112840233G=CA1573470350APCc.4693G= (p.Glu1565=)
c.*4645G= (n.*4645G=)
c.4585G= (p.Glu1529=)
c.4639G= (p.Glu1547=)
c.*3961G= (n.*3961G=)
c.230+11261G=
c.4669G= (p.Glu1557=)
c.4564G= (p.Glu1522=)
c.4555G= (p.Glu1519=)
c.4516G= (p.Glu1506=)
c.4462G= (p.Glu1488=)
c.4366G= (p.Glu1456=)
c.4336G= (p.Glu1446=)
c.4261G= (p.Glu1421=)
c.4159G= (p.Glu1387=)
c.3790G= (p.Glu1264=)
5g.112840233G>TCA16031497APCc.4693G>T (p.Glu1565Ter)
c.*4645G>T (n.*4645G>T)
c.4585G>T (p.Glu1529Ter)
c.4639G>T (p.Glu1547Ter)
c.*3961G>T (n.*3961G>T)
c.230+11261G>T
c.4669G>T (p.Glu1557Ter)
c.4564G>T (p.Glu1522Ter)
c.4555G>T (p.Glu1519Ter)
c.4516G>T (p.Glu1506Ter)
c.4462G>T (p.Glu1488Ter)
c.4366G>T (p.Glu1456Ter)
c.4336G>T (p.Glu1446Ter)
c.4261G>T (p.Glu1421Ter)
c.4159G>T (p.Glu1387Ter)
c.3790G>T (p.Glu1264Ter)
 COSMIC
5g.112840233_112840234insGGGGCA645543962APCc.4693_4694insGGGG (p.Glu1565GlyfsTer13)
c.*4645_*4646insGGGG (n.*4645_*4646insGGGG)
c.4585_4586insGGGG (p.Glu1529GlyfsTer13)
c.4639_4640insGGGG (p.Glu1547GlyfsTer13)
c.*3961_*3962insGGGG (n.*3961_*3962insGGGG)
c.230+11261_230+11262insGGGG
c.4669_4670insGGGG (p.Glu1557GlyfsTer13)
c.4564_4565insGGGG (p.Glu1522GlyfsTer13)
c.4555_4556insGGGG (p.Glu1519GlyfsTer13)
c.4516_4517insGGGG (p.Glu1506GlyfsTer13)
c.4462_4463insGGGG (p.Glu1488GlyfsTer13)
c.4366_4367insGGGG (p.Glu1456GlyfsTer13)
c.4336_4337insGGGG (p.Glu1446GlyfsTer13)
c.4261_4262insGGGG (p.Glu1421GlyfsTer13)
c.4159_4160insGGGG (p.Glu1387GlyfsTer13)
c.3790_3791insGGGG (p.Glu1264GlyfsTer13)
 COSMIC
5g.112840233_112840234delCA2695205297APCc.4693_4694del (p.Glu1565LysfsTer11)
c.*4645_*4646del (n.*4645_*4646del)
c.4585_4586del (p.Glu1529LysfsTer11)
c.4639_4640del (p.Glu1547LysfsTer11)
c.*3961_*3962del (n.*3961_*3962del)
c.230+11261_230+11262del
c.4669_4670del (p.Glu1557LysfsTer11)
c.4564_4565del (p.Glu1522LysfsTer11)
c.4555_4556del (p.Glu1519LysfsTer11)
c.4516_4517del (p.Glu1506LysfsTer11)
c.4462_4463del (p.Glu1488LysfsTer11)
c.4366_4367del (p.Glu1456LysfsTer11)
c.4336_4337del (p.Glu1446LysfsTer11)
c.4261_4262del (p.Glu1421LysfsTer11)
c.4159_4160del (p.Glu1387LysfsTer11)
c.3790_3791del (p.Glu1264LysfsTer11)
5g.112840233_112840248delCA1573470343APCc.4693_4708del (p.Glu1565ArgfsTer13)
c.*4645_*4660del (n.*4645_*4660del)
c.4585_4600del (p.Glu1529ArgfsTer13)
c.4639_4654del (p.Glu1547ArgfsTer13)
c.*3961_*3976del (n.*3961_*3976del)
c.230+11261_230+11276del
c.4669_4684del (p.Glu1557ArgfsTer13)
c.4564_4579del (p.Glu1522ArgfsTer13)
c.4555_4570del (p.Glu1519ArgfsTer13)
c.4516_4531del (p.Glu1506ArgfsTer13)
c.4462_4477del (p.Glu1488ArgfsTer13)
c.4366_4381del (p.Glu1456ArgfsTer13)
c.4336_4351del (p.Glu1446ArgfsTer13)
c.4261_4276del (p.Glu1421ArgfsTer13)
c.4159_4174del (p.Glu1387ArgfsTer13)
c.3790_3805del (p.Glu1264ArgfsTer13)
 dbSNP
5g.112840234A=CA1573470362APCc.4694A= (p.Glu1565=)
c.*4646A= (n.*4646A=)
c.4586A= (p.Glu1529=)
c.4640A= (p.Glu1547=)
c.*3962A= (n.*3962A=)
c.230+11262A=
c.4670A= (p.Glu1557=)
c.4565A= (p.Glu1522=)
c.4556A= (p.Glu1519=)
c.4517A= (p.Glu1506=)
c.4463A= (p.Glu1488=)
c.4367A= (p.Glu1456=)
c.4337A= (p.Glu1446=)
c.4262A= (p.Glu1421=)
c.4160A= (p.Glu1387=)
c.3791A= (p.Glu1264=)
5g.112840234A>CCA16031498APCc.4694A>C (p.Glu1565Ala)
c.*4646A>C (n.*4646A>C)
c.4586A>C (p.Glu1529Ala)
c.4640A>C (p.Glu1547Ala)
c.*3962A>C (n.*3962A>C)
c.230+11262A>C
c.4670A>C (p.Glu1557Ala)
c.4565A>C (p.Glu1522Ala)
c.4556A>C (p.Glu1519Ala)
c.4517A>C (p.Glu1506Ala)
c.4463A>C (p.Glu1488Ala)
c.4367A>C (p.Glu1456Ala)
c.4337A>C (p.Glu1446Ala)
c.4262A>C (p.Glu1421Ala)
c.4160A>C (p.Glu1387Ala)
c.3791A>C (p.Glu1264Ala)
5g.112840234A>GCA009669APCc.4694A>G (p.Glu1565Gly)
c.*4646A>G (n.*4646A>G)
c.4586A>G (p.Glu1529Gly)
c.4640A>G (p.Glu1547Gly)
c.*3962A>G (n.*3962A>G)
c.230+11262A>G
c.4670A>G (p.Glu1557Gly)
c.4565A>G (p.Glu1522Gly)
c.4556A>G (p.Glu1519Gly)
c.4517A>G (p.Glu1506Gly)
c.4463A>G (p.Glu1488Gly)
c.4367A>G (p.Glu1456Gly)
c.4337A>G (p.Glu1446Gly)
c.4262A>G (p.Glu1421Gly)
c.4160A>G (p.Glu1387Gly)
c.3791A>G (p.Glu1264Gly)
 ClinVar dbSNP
5g.112840234A>TCA16031499APCc.4694A>T (p.Glu1565Val)
c.*4646A>T (n.*4646A>T)
c.4586A>T (p.Glu1529Val)
c.4640A>T (p.Glu1547Val)
c.*3962A>T (n.*3962A>T)
c.230+11262A>T
c.4670A>T (p.Glu1557Val)
c.4565A>T (p.Glu1522Val)
c.4556A>T (p.Glu1519Val)
c.4517A>T (p.Glu1506Val)
c.4463A>T (p.Glu1488Val)
c.4367A>T (p.Glu1456Val)
c.4337A>T (p.Glu1446Val)
c.4262A>T (p.Glu1421Val)
c.4160A>T (p.Glu1387Val)
c.3791A>T (p.Glu1264Val)
 dbSNP
5g.112840237delCA446206642APCc.4697del (p.Asn1566ThrfsTer17)
c.*4649del (n.*4649del)
c.4589del (p.Asn1530ThrfsTer17)
c.4643del (p.Asn1548ThrfsTer17)
c.*3965del (n.*3965del)
c.230+11265del
c.4673del (p.Asn1558ThrfsTer17)
c.4568del (p.Asn1523ThrfsTer17)
c.4559del (p.Asn1520ThrfsTer17)
c.4520del (p.Asn1507ThrfsTer17)
c.4466del (p.Asn1489ThrfsTer17)
c.4370del (p.Asn1457ThrfsTer17)
c.4340del (p.Asn1447ThrfsTer17)
c.4265del (p.Asn1422ThrfsTer17)
c.4163del (p.Asn1388ThrfsTer17)
c.3794del (p.Asn1265ThrfsTer17)
 COSMIC COSMIC
5g.112840235A>CCA16031500APCc.4695A>C (p.Glu1565Asp)
c.*4647A>C (n.*4647A>C)
c.4587A>C (p.Glu1529Asp)
c.4641A>C (p.Glu1547Asp)
c.*3963A>C (n.*3963A>C)
c.230+11263A>C
c.4671A>C (p.Glu1557Asp)
c.4566A>C (p.Glu1522Asp)
c.4557A>C (p.Glu1519Asp)
c.4518A>C (p.Glu1506Asp)
c.4464A>C (p.Glu1488Asp)
c.4368A>C (p.Glu1456Asp)
c.4338A>C (p.Glu1446Asp)
c.4263A>C (p.Glu1421Asp)
c.4161A>C (p.Glu1387Asp)
c.3792A>C (p.Glu1264Asp)
5g.112840235A>GCA446206643APCc.4695A>G (p.Glu1565=)
c.*4647A>G (n.*4647A>G)
c.4587A>G (p.Glu1529=)
c.4641A>G (p.Glu1547=)
c.*3963A>G (n.*3963A>G)
c.230+11263A>G
c.4671A>G (p.Glu1557=)
c.4566A>G (p.Glu1522=)
c.4557A>G (p.Glu1519=)
c.4518A>G (p.Glu1506=)
c.4464A>G (p.Glu1488=)
c.4368A>G (p.Glu1456=)
c.4338A>G (p.Glu1446=)
c.4263A>G (p.Glu1421=)
c.4161A>G (p.Glu1387=)
c.3792A>G (p.Glu1264=)
5g.112840235A>TCA16031501APCc.4695A>T (p.Glu1565Asp)
c.*4647A>T (n.*4647A>T)
c.4587A>T (p.Glu1529Asp)
c.4641A>T (p.Glu1547Asp)
c.*3963A>T (n.*3963A>T)
c.230+11263A>T
c.4671A>T (p.Glu1557Asp)
c.4566A>T (p.Glu1522Asp)
c.4557A>T (p.Glu1519Asp)
c.4518A>T (p.Glu1506Asp)
c.4464A>T (p.Glu1488Asp)
c.4368A>T (p.Glu1456Asp)
c.4338A>T (p.Glu1446Asp)
c.4263A>T (p.Glu1421Asp)
c.4161A>T (p.Glu1387Asp)
c.3792A>T (p.Glu1264Asp)
 dbSNP
5g.112840238_112840247delCA2582341329APCc.4698_4707del (p.Asn1566LysfsTer14)
c.*4650_*4659del (n.*4650_*4659del)
c.4590_4599del (p.Asn1530LysfsTer14)
c.4644_4653del (p.Asn1548LysfsTer14)
c.*3966_*3975del (n.*3966_*3975del)
c.230+11266_230+11275del
c.4674_4683del (p.Asn1558LysfsTer14)
c.4569_4578del (p.Asn1523LysfsTer14)
c.4560_4569del (p.Asn1520LysfsTer14)
c.4521_4530del (p.Asn1507LysfsTer14)
c.4467_4476del (p.Asn1489LysfsTer14)
c.4371_4380del (p.Asn1457LysfsTer14)
c.4341_4350del (p.Asn1447LysfsTer14)
c.4266_4275del (p.Asn1422LysfsTer14)
c.4164_4173del (p.Asn1388LysfsTer14)
c.3795_3804del (p.Asn1265LysfsTer14)
 ClinVar
5g.112840236A=CA1573470382APCc.4696A= (p.Asn1566=)
c.*4648A= (n.*4648A=)
c.4588A= (p.Asn1530=)
c.4642A= (p.Asn1548=)
c.*3964A= (n.*3964A=)
c.230+11264A=
c.4672A= (p.Asn1558=)
c.4567A= (p.Asn1523=)
c.4558A= (p.Asn1520=)
c.4519A= (p.Asn1507=)
c.4465A= (p.Asn1489=)
c.4369A= (p.Asn1457=)
c.4339A= (p.Asn1447=)
c.4264A= (p.Asn1422=)
c.4162A= (p.Asn1388=)
c.3793A= (p.Asn1265=)
5g.112840236A>CCA16031502APCc.4696A>C (p.Asn1566His)
c.*4648A>C (n.*4648A>C)
c.4588A>C (p.Asn1530His)
c.4642A>C (p.Asn1548His)
c.*3964A>C (n.*3964A>C)
c.230+11264A>C
c.4672A>C (p.Asn1558His)
c.4567A>C (p.Asn1523His)
c.4558A>C (p.Asn1520His)
c.4519A>C (p.Asn1507His)
c.4465A>C (p.Asn1489His)
c.4369A>C (p.Asn1457His)
c.4339A>C (p.Asn1447His)
c.4264A>C (p.Asn1422His)
c.4162A>C (p.Asn1388His)
c.3793A>C (p.Asn1265His)
5g.112840236A>GCA16031503APCc.4696A>G (p.Asn1566Asp)
c.*4648A>G (n.*4648A>G)
c.4588A>G (p.Asn1530Asp)
c.4642A>G (p.Asn1548Asp)
c.*3964A>G (n.*3964A>G)
c.230+11264A>G
c.4672A>G (p.Asn1558Asp)
c.4567A>G (p.Asn1523Asp)
c.4558A>G (p.Asn1520Asp)
c.4519A>G (p.Asn1507Asp)
c.4465A>G (p.Asn1489Asp)
c.4369A>G (p.Asn1457Asp)
c.4339A>G (p.Asn1447Asp)
c.4264A>G (p.Asn1422Asp)
c.4162A>G (p.Asn1388Asp)
c.3793A>G (p.Asn1265Asp)
 dbSNP
5g.112840236A>TCA16031504APCc.4696A>T (p.Asn1566Tyr)
c.*4648A>T (n.*4648A>T)
c.4588A>T (p.Asn1530Tyr)
c.4642A>T (p.Asn1548Tyr)
c.*3964A>T (n.*3964A>T)
c.230+11264A>T
c.4672A>T (p.Asn1558Tyr)
c.4567A>T (p.Asn1523Tyr)
c.4558A>T (p.Asn1520Tyr)
c.4519A>T (p.Asn1507Tyr)
c.4465A>T (p.Asn1489Tyr)
c.4369A>T (p.Asn1457Tyr)
c.4339A>T (p.Asn1447Tyr)
c.4264A>T (p.Asn1422Tyr)
c.4162A>T (p.Asn1388Tyr)
c.3793A>T (p.Asn1265Tyr)
 ClinVar dbSNP
5g.112840236_112840239delinsAACCCA1573470370APCc.4696_4699delinsAACC (p.Asn1566=)
c.*4648_*4651delinsAACC (n.*4648_*4651delinsAACC)
c.4588_4591delinsAACC (p.Asn1530=)
c.4642_4645delinsAACC (p.Asn1548=)
c.*3964_*3967delinsAACC (n.*3964_*3967delinsAACC)
c.230+11264_230+11267delinsAACC
c.4672_4675delinsAACC (p.Asn1558=)
c.4567_4570delinsAACC (p.Asn1523=)
c.4558_4561delinsAACC (p.Asn1520=)
c.4519_4522delinsAACC (p.Asn1507=)
c.4465_4468delinsAACC (p.Asn1489=)
c.4369_4372delinsAACC (p.Asn1457=)
c.4339_4342delinsAACC (p.Asn1447=)
c.4264_4267delinsAACC (p.Asn1422=)
c.4162_4165delinsAACC (p.Asn1388=)
c.3793_3796delinsAACC (p.Asn1265=)
5g.112840237A=CA1573470390APCc.4697A= (p.Asn1566=)
c.*4649A= (n.*4649A=)
c.4589A= (p.Asn1530=)
c.4643A= (p.Asn1548=)
c.*3965A= (n.*3965A=)
c.230+11265A=
c.4673A= (p.Asn1558=)
c.4568A= (p.Asn1523=)
c.4559A= (p.Asn1520=)
c.4520A= (p.Asn1507=)
c.4466A= (p.Asn1489=)
c.4370A= (p.Asn1457=)
c.4340A= (p.Asn1447=)
c.4265A= (p.Asn1422=)
c.4163A= (p.Asn1388=)
c.3794A= (p.Asn1265=)
5g.112840237A>CCA16031505APCc.4697A>C (p.Asn1566Thr)
c.*4649A>C (n.*4649A>C)
c.4589A>C (p.Asn1530Thr)
c.4643A>C (p.Asn1548Thr)
c.*3965A>C (n.*3965A>C)
c.230+11265A>C
c.4673A>C (p.Asn1558Thr)
c.4568A>C (p.Asn1523Thr)
c.4559A>C (p.Asn1520Thr)
c.4520A>C (p.Asn1507Thr)
c.4466A>C (p.Asn1489Thr)
c.4370A>C (p.Asn1457Thr)
c.4340A>C (p.Asn1447Thr)
c.4265A>C (p.Asn1422Thr)
c.4163A>C (p.Asn1388Thr)
c.3794A>C (p.Asn1265Thr)
5g.112840237A>GCA039503APCc.4697A>G (p.Asn1566Ser)
c.*4649A>G (n.*4649A>G)
c.4589A>G (p.Asn1530Ser)
c.4643A>G (p.Asn1548Ser)
c.*3965A>G (n.*3965A>G)
c.230+11265A>G
c.4673A>G (p.Asn1558Ser)
c.4568A>G (p.Asn1523Ser)
c.4559A>G (p.Asn1520Ser)
c.4520A>G (p.Asn1507Ser)
c.4466A>G (p.Asn1489Ser)
c.4370A>G (p.Asn1457Ser)
c.4340A>G (p.Asn1447Ser)
c.4265A>G (p.Asn1422Ser)
c.4163A>G (p.Asn1388Ser)
c.3794A>G (p.Asn1265Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840237A>TCA16031506APCc.4697A>T (p.Asn1566Ile)
c.*4649A>T (n.*4649A>T)
c.4589A>T (p.Asn1530Ile)
c.4643A>T (p.Asn1548Ile)
c.*3965A>T (n.*3965A>T)
c.230+11265A>T
c.4673A>T (p.Asn1558Ile)
c.4568A>T (p.Asn1523Ile)
c.4559A>T (p.Asn1520Ile)
c.4520A>T (p.Asn1507Ile)
c.4466A>T (p.Asn1489Ile)
c.4370A>T (p.Asn1457Ile)
c.4340A>T (p.Asn1447Ile)
c.4265A>T (p.Asn1422Ile)
c.4163A>T (p.Asn1388Ile)
c.3794A>T (p.Asn1265Ile)
5g.112840237_112840239delinsTCA645369380APCc.4697_4699delinsT (p.Asn1566IlefsTer10)
c.*4649_*4651delinsT (n.*4649_*4651delinsT)
c.4589_4591delinsT (p.Asn1530IlefsTer10)
c.4643_4645delinsT (p.Asn1548IlefsTer10)
c.*3965_*3967delinsT (n.*3965_*3967delinsT)
c.230+11265_230+11267delinsT
c.4673_4675delinsT (p.Asn1558IlefsTer10)
c.4568_4570delinsT (p.Asn1523IlefsTer10)
c.4559_4561delinsT (p.Asn1520IlefsTer10)
c.4520_4522delinsT (p.Asn1507IlefsTer10)
c.4466_4468delinsT (p.Asn1489IlefsTer10)
c.4370_4372delinsT (p.Asn1457IlefsTer10)
c.4340_4342delinsT (p.Asn1447IlefsTer10)
c.4265_4267delinsT (p.Asn1422IlefsTer10)
c.4163_4165delinsT (p.Asn1388IlefsTer10)
c.3794_3796delinsT (p.Asn1265IlefsTer10)
 ClinVar dbSNP
5g.112840238C>ACA16031507APCc.4698C>A (p.Asn1566Lys)
c.*4650C>A (n.*4650C>A)
c.4590C>A (p.Asn1530Lys)
c.4644C>A (p.Asn1548Lys)
c.*3966C>A (n.*3966C>A)
c.230+11266C>A
c.4674C>A (p.Asn1558Lys)
c.4569C>A (p.Asn1523Lys)
c.4560C>A (p.Asn1520Lys)
c.4521C>A (p.Asn1507Lys)
c.4467C>A (p.Asn1489Lys)
c.4371C>A (p.Asn1457Lys)
c.4341C>A (p.Asn1447Lys)
c.4266C>A (p.Asn1422Lys)
c.4164C>A (p.Asn1388Lys)
c.3795C>A (p.Asn1265Lys)
 dbSNP
5g.112840238C>GCA16031508APCc.4698C>G (p.Asn1566Lys)
c.*4650C>G (n.*4650C>G)
c.4590C>G (p.Asn1530Lys)
c.4644C>G (p.Asn1548Lys)
c.*3966C>G (n.*3966C>G)
c.230+11266C>G
c.4674C>G (p.Asn1558Lys)
c.4569C>G (p.Asn1523Lys)
c.4560C>G (p.Asn1520Lys)
c.4521C>G (p.Asn1507Lys)
c.4467C>G (p.Asn1489Lys)
c.4371C>G (p.Asn1457Lys)
c.4341C>G (p.Asn1447Lys)
c.4266C>G (p.Asn1422Lys)
c.4164C>G (p.Asn1388Lys)
c.3795C>G (p.Asn1265Lys)
 ClinVar dbSNP gnomAD v4
5g.112840238C>TCA446206644APCc.4698C>T (p.Asn1566=)
c.*4650C>T (n.*4650C>T)
c.4590C>T (p.Asn1530=)
c.4644C>T (p.Asn1548=)
c.*3966C>T (n.*3966C>T)
c.230+11266C>T
c.4674C>T (p.Asn1558=)
c.4569C>T (p.Asn1523=)
c.4560C>T (p.Asn1520=)
c.4521C>T (p.Asn1507=)
c.4467C>T (p.Asn1489=)
c.4371C>T (p.Asn1457=)
c.4341C>T (p.Asn1447=)
c.4266C>T (p.Asn1422=)
c.4164C>T (p.Asn1388=)
c.3795C>T (p.Asn1265=)
 ClinVar dbSNP
5g.112840239dupCA645372796APCc.4699dup (p.Gln1567ProfsTer10)
c.*4651dup (n.*4651dup)
c.4591dup (p.Gln1531ProfsTer10)
c.4645dup (p.Gln1549ProfsTer10)
c.*3967dup (n.*3967dup)
c.230+11267dup
c.4675dup (p.Gln1559ProfsTer10)
c.4570dup (p.Gln1524ProfsTer10)
c.4561dup (p.Gln1521ProfsTer10)
c.4522dup (p.Gln1508ProfsTer10)
c.4468dup (p.Gln1490ProfsTer10)
c.4372dup (p.Gln1458ProfsTer10)
c.4342dup (p.Gln1448ProfsTer10)
c.4267dup (p.Gln1423ProfsTer10)
c.4165dup (p.Gln1389ProfsTer10)
c.3796dup (p.Gln1266ProfsTer10)
 ClinVar dbSNP
5g.112840239C>ACA16031509APCc.4699C>A (p.Gln1567Lys)
c.*4651C>A (n.*4651C>A)
c.4591C>A (p.Gln1531Lys)
c.4645C>A (p.Gln1549Lys)
c.*3967C>A (n.*3967C>A)
c.230+11267C>A
c.4675C>A (p.Gln1559Lys)
c.4570C>A (p.Gln1524Lys)
c.4561C>A (p.Gln1521Lys)
c.4522C>A (p.Gln1508Lys)
c.4468C>A (p.Gln1490Lys)
c.4372C>A (p.Gln1458Lys)
c.4342C>A (p.Gln1448Lys)
c.4267C>A (p.Gln1423Lys)
c.4165C>A (p.Gln1389Lys)
c.3796C>A (p.Gln1266Lys)
 ClinVar dbSNP
5g.112840239C=CA1573470423APCc.4699C= (p.Gln1567=)
c.*4651C= (n.*4651C=)
c.4591C= (p.Gln1531=)
c.4645C= (p.Gln1549=)
c.*3967C= (n.*3967C=)
c.230+11267C=
c.4675C= (p.Gln1559=)
c.4570C= (p.Gln1524=)
c.4561C= (p.Gln1521=)
c.4522C= (p.Gln1508=)
c.4468C= (p.Gln1490=)
c.4372C= (p.Gln1458=)
c.4342C= (p.Gln1448=)
c.4267C= (p.Gln1423=)
c.4165C= (p.Gln1389=)
c.3796C= (p.Gln1266=)
5g.112840239C>GCA16031510APCc.4699C>G (p.Gln1567Glu)
c.*4651C>G (n.*4651C>G)
c.4591C>G (p.Gln1531Glu)
c.4645C>G (p.Gln1549Glu)
c.*3967C>G (n.*3967C>G)
c.230+11267C>G
c.4675C>G (p.Gln1559Glu)
c.4570C>G (p.Gln1524Glu)
c.4561C>G (p.Gln1521Glu)
c.4522C>G (p.Gln1508Glu)
c.4468C>G (p.Gln1490Glu)
c.4372C>G (p.Gln1458Glu)
c.4342C>G (p.Gln1448Glu)
c.4267C>G (p.Gln1423Glu)
c.4165C>G (p.Gln1389Glu)
c.3796C>G (p.Gln1266Glu)
 ClinVar dbSNP
5g.112840239C>TCA279766APCc.4699C>T (p.Gln1567Ter)
c.*4651C>T (n.*4651C>T)
c.4591C>T (p.Gln1531Ter)
c.4645C>T (p.Gln1549Ter)
c.*3967C>T (n.*3967C>T)
c.230+11267C>T
c.4675C>T (p.Gln1559Ter)
c.4570C>T (p.Gln1524Ter)
c.4561C>T (p.Gln1521Ter)
c.4522C>T (p.Gln1508Ter)
c.4468C>T (p.Gln1490Ter)
c.4372C>T (p.Gln1458Ter)
c.4342C>T (p.Gln1448Ter)
c.4267C>T (p.Gln1423Ter)
c.4165C>T (p.Gln1389Ter)
c.3796C>T (p.Gln1266Ter)
 ClinVar dbSNP COSMIC
5g.112840239_112840240delinsCACA1573470409APCc.4699_4700delinsCA (p.Gln1567=)
c.*4651_*4652delinsCA (n.*4651_*4652delinsCA)
c.4591_4592delinsCA (p.Gln1531=)
c.4645_4646delinsCA (p.Gln1549=)
c.*3967_*3968delinsCA (n.*3967_*3968delinsCA)
c.230+11267_230+11268delinsCA
c.4675_4676delinsCA (p.Gln1559=)
c.4570_4571delinsCA (p.Gln1524=)
c.4561_4562delinsCA (p.Gln1521=)
c.4522_4523delinsCA (p.Gln1508=)
c.4468_4469delinsCA (p.Gln1490=)
c.4372_4373delinsCA (p.Gln1458=)
c.4342_4343delinsCA (p.Gln1448=)
c.4267_4268delinsCA (p.Gln1423=)
c.4165_4166delinsCA (p.Gln1389=)
c.3796_3797delinsCA (p.Gln1266=)
5g.112840240A>CCA16031511APCc.4700A>C (p.Gln1567Pro)
c.*4652A>C (n.*4652A>C)
c.4592A>C (p.Gln1531Pro)
c.4646A>C (p.Gln1549Pro)
c.*3968A>C (n.*3968A>C)
c.230+11268A>C
c.4676A>C (p.Gln1559Pro)
c.4571A>C (p.Gln1524Pro)
c.4562A>C (p.Gln1521Pro)
c.4523A>C (p.Gln1508Pro)
c.4469A>C (p.Gln1490Pro)
c.4373A>C (p.Gln1458Pro)
c.4343A>C (p.Gln1448Pro)
c.4268A>C (p.Gln1423Pro)
c.4166A>C (p.Gln1389Pro)
c.3797A>C (p.Gln1266Pro)
 ClinVar
5g.112840240A>GCA16031512APCc.4700A>G (p.Gln1567Arg)
c.*4652A>G (n.*4652A>G)
c.4592A>G (p.Gln1531Arg)
c.4646A>G (p.Gln1549Arg)
c.*3968A>G (n.*3968A>G)
c.230+11268A>G
c.4676A>G (p.Gln1559Arg)
c.4571A>G (p.Gln1524Arg)
c.4562A>G (p.Gln1521Arg)
c.4523A>G (p.Gln1508Arg)
c.4469A>G (p.Gln1490Arg)
c.4373A>G (p.Gln1458Arg)
c.4343A>G (p.Gln1448Arg)
c.4268A>G (p.Gln1423Arg)
c.4166A>G (p.Gln1389Arg)
c.3797A>G (p.Gln1266Arg)
5g.112840240A>TCA16031513APCc.4700A>T (p.Gln1567Leu)
c.*4652A>T (n.*4652A>T)
c.4592A>T (p.Gln1531Leu)
c.4646A>T (p.Gln1549Leu)
c.*3968A>T (n.*3968A>T)
c.230+11268A>T
c.4676A>T (p.Gln1559Leu)
c.4571A>T (p.Gln1524Leu)
c.4562A>T (p.Gln1521Leu)
c.4523A>T (p.Gln1508Leu)
c.4469A>T (p.Gln1490Leu)
c.4373A>T (p.Gln1458Leu)
c.4343A>T (p.Gln1448Leu)
c.4268A>T (p.Gln1423Leu)
c.4166A>T (p.Gln1389Leu)
c.3797A>T (p.Gln1266Leu)
 dbSNP
5g.112840240_112840241delCA2695205298APCc.4700_4701del (p.Gln1567ArgfsTer9)
c.*4652_*4653del (n.*4652_*4653del)
c.4592_4593del (p.Gln1531ArgfsTer9)
c.4646_4647del (p.Gln1549ArgfsTer9)
c.*3968_*3969del (n.*3968_*3969del)
c.230+11268_230+11269del
c.4676_4677del (p.Gln1559ArgfsTer9)
c.4571_4572del (p.Gln1524ArgfsTer9)
c.4562_4563del (p.Gln1521ArgfsTer9)
c.4523_4524del (p.Gln1508ArgfsTer9)
c.4469_4470del (p.Gln1490ArgfsTer9)
c.4373_4374del (p.Gln1458ArgfsTer9)
c.4343_4344del (p.Gln1448ArgfsTer9)
c.4268_4269del (p.Gln1423ArgfsTer9)
c.4166_4167del (p.Gln1389ArgfsTer9)
c.3797_3798del (p.Gln1266ArgfsTer9)
5g.112840241delCA10584252APCc.4701del (p.Glu1568ArgfsTer15)
c.*4653del (n.*4653del)
c.4593del (p.Glu1532ArgfsTer15)
c.4647del (p.Glu1550ArgfsTer15)
c.*3969del (n.*3969del)
c.230+11269del
c.4677del (p.Glu1560ArgfsTer15)
c.4572del (p.Glu1525ArgfsTer15)
c.4563del (p.Glu1522ArgfsTer15)
c.4524del (p.Glu1509ArgfsTer15)
c.4470del (p.Glu1491ArgfsTer15)
c.4374del (p.Glu1459ArgfsTer15)
c.4344del (p.Glu1449ArgfsTer15)
c.4269del (p.Glu1424ArgfsTer15)
c.4167del (p.Glu1390ArgfsTer15)
c.3798del (p.Glu1267ArgfsTer15)
 ClinVar dbSNP
5g.112840241A=CA1573470444APCc.4701A= (p.Gln1567=)
c.*4653A= (n.*4653A=)
c.4593A= (p.Gln1531=)
c.4647A= (p.Gln1549=)
c.*3969A= (n.*3969A=)
c.230+11269A=
c.4677A= (p.Gln1559=)
c.4572A= (p.Gln1524=)
c.4563A= (p.Gln1521=)
c.4524A= (p.Gln1508=)
c.4470A= (p.Gln1490=)
c.4374A= (p.Gln1458=)
c.4344A= (p.Gln1448=)
c.4269A= (p.Gln1423=)
c.4167A= (p.Gln1389=)
c.3798A= (p.Gln1266=)
5g.112840241A>CCA16031514APCc.4701A>C (p.Gln1567His)
c.*4653A>C (n.*4653A>C)
c.4593A>C (p.Gln1531His)
c.4647A>C (p.Gln1549His)
c.*3969A>C (n.*3969A>C)
c.230+11269A>C
c.4677A>C (p.Gln1559His)
c.4572A>C (p.Gln1524His)
c.4563A>C (p.Gln1521His)
c.4524A>C (p.Gln1508His)
c.4470A>C (p.Gln1490His)
c.4374A>C (p.Gln1458His)
c.4344A>C (p.Gln1448His)
c.4269A>C (p.Gln1423His)
c.4167A>C (p.Gln1389His)
c.3798A>C (p.Gln1266His)
5g.112840241A>GCA446206645APCc.4701A>G (p.Gln1567=)
c.*4653A>G (n.*4653A>G)
c.4593A>G (p.Gln1531=)
c.4647A>G (p.Gln1549=)
c.*3969A>G (n.*3969A>G)
c.230+11269A>G
c.4677A>G (p.Gln1559=)
c.4572A>G (p.Gln1524=)
c.4563A>G (p.Gln1521=)
c.4524A>G (p.Gln1508=)
c.4470A>G (p.Gln1490=)
c.4374A>G (p.Gln1458=)
c.4344A>G (p.Gln1448=)
c.4269A>G (p.Gln1423=)
c.4167A>G (p.Gln1389=)
c.3798A>G (p.Gln1266=)
 ClinVar dbSNP
5g.112840241A>TCA16031515APCc.4701A>T (p.Gln1567His)
c.*4653A>T (n.*4653A>T)
c.4593A>T (p.Gln1531His)
c.4647A>T (p.Gln1549His)
c.*3969A>T (n.*3969A>T)
c.230+11269A>T
c.4677A>T (p.Gln1559His)
c.4572A>T (p.Gln1524His)
c.4563A>T (p.Gln1521His)
c.4524A>T (p.Gln1508His)
c.4470A>T (p.Gln1490His)
c.4374A>T (p.Gln1458His)
c.4344A>T (p.Gln1448His)
c.4269A>T (p.Gln1423His)
c.4167A>T (p.Gln1389His)
c.3798A>T (p.Gln1266His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840244_112840245delCA2695205299APCc.4704_4705del (p.Lys1569ArgfsTer7)
c.*4656_*4657del (n.*4656_*4657del)
c.4596_4597del (p.Lys1533ArgfsTer7)
c.4650_4651del (p.Lys1551ArgfsTer7)
c.*3972_*3973del (n.*3972_*3973del)
c.230+11272_230+11273del
c.4680_4681del (p.Lys1561ArgfsTer7)
c.4575_4576del (p.Lys1526ArgfsTer7)
c.4566_4567del (p.Lys1523ArgfsTer7)
c.4527_4528del (p.Lys1510ArgfsTer7)
c.4473_4474del (p.Lys1492ArgfsTer7)
c.4377_4378del (p.Lys1460ArgfsTer7)
c.4347_4348del (p.Lys1450ArgfsTer7)
c.4272_4273del (p.Lys1425ArgfsTer7)
c.4170_4171del (p.Lys1391ArgfsTer7)
c.3801_3802del (p.Lys1268ArgfsTer7)
5g.112840242_112840245delCA658760761APCc.4702_4705del (p.Glu1568LysfsTer14)
c.*4654_*4657del (n.*4654_*4657del)
c.4594_4597del (p.Glu1532LysfsTer14)
c.4648_4651del (p.Glu1550LysfsTer14)
c.*3970_*3973del (n.*3970_*3973del)
c.230+11270_230+11273del
c.4678_4681del (p.Glu1560LysfsTer14)
c.4573_4576del (p.Glu1525LysfsTer14)
c.4564_4567del (p.Glu1522LysfsTer14)
c.4525_4528del (p.Glu1509LysfsTer14)
c.4471_4474del (p.Glu1491LysfsTer14)
c.4375_4378del (p.Glu1459LysfsTer14)
c.4345_4348del (p.Glu1449LysfsTer14)
c.4270_4273del (p.Glu1424LysfsTer14)
c.4168_4171del (p.Glu1390LysfsTer14)
c.3799_3802del (p.Glu1267LysfsTer14)
5g.112840242G>ACA16031516APCc.4702G>A (p.Glu1568Lys)
c.*4654G>A (n.*4654G>A)
c.4594G>A (p.Glu1532Lys)
c.4648G>A (p.Glu1550Lys)
c.*3970G>A (n.*3970G>A)
c.230+11270G>A
c.4678G>A (p.Glu1560Lys)
c.4573G>A (p.Glu1525Lys)
c.4564G>A (p.Glu1522Lys)
c.4525G>A (p.Glu1509Lys)
c.4471G>A (p.Glu1491Lys)
c.4375G>A (p.Glu1459Lys)
c.4345G>A (p.Glu1449Lys)
c.4270G>A (p.Glu1424Lys)
c.4168G>A (p.Glu1390Lys)
c.3799G>A (p.Glu1267Lys)
 dbSNP COSMIC
5g.112840242G>CCA16031517APCc.4702G>C (p.Glu1568Gln)
c.*4654G>C (n.*4654G>C)
c.4594G>C (p.Glu1532Gln)
c.4648G>C (p.Glu1550Gln)
c.*3970G>C (n.*3970G>C)
c.230+11270G>C
c.4678G>C (p.Glu1560Gln)
c.4573G>C (p.Glu1525Gln)
c.4564G>C (p.Glu1522Gln)
c.4525G>C (p.Glu1509Gln)
c.4471G>C (p.Glu1491Gln)
c.4375G>C (p.Glu1459Gln)
c.4345G>C (p.Glu1449Gln)
c.4270G>C (p.Glu1424Gln)
c.4168G>C (p.Glu1390Gln)
c.3799G>C (p.Glu1267Gln)
 dbSNP
5g.112840242G>TCA16031518APCc.4702G>T (p.Glu1568Ter)
c.*4654G>T (n.*4654G>T)
c.4594G>T (p.Glu1532Ter)
c.4648G>T (p.Glu1550Ter)
c.*3970G>T (n.*3970G>T)
c.230+11270G>T
c.4678G>T (p.Glu1560Ter)
c.4573G>T (p.Glu1525Ter)
c.4564G>T (p.Glu1522Ter)
c.4525G>T (p.Glu1509Ter)
c.4471G>T (p.Glu1491Ter)
c.4375G>T (p.Glu1459Ter)
c.4345G>T (p.Glu1449Ter)
c.4270G>T (p.Glu1424Ter)
c.4168G>T (p.Glu1390Ter)
c.3799G>T (p.Glu1267Ter)
 ClinVar dbSNP COSMIC
5g.112840242_112840246delinsGAGAACA1573470461APCc.4702_4706delinsGAGAA (p.Glu1568=)
c.*4654_*4658delinsGAGAA (n.*4654_*4658delinsGAGAA)
c.4594_4598delinsGAGAA (p.Glu1532=)
c.4648_4652delinsGAGAA (p.Glu1550=)
c.*3970_*3974delinsGAGAA (n.*3970_*3974delinsGAGAA)
c.230+11270_230+11274delinsGAGAA
c.4678_4682delinsGAGAA (p.Glu1560=)
c.4573_4577delinsGAGAA (p.Glu1525=)
c.4564_4568delinsGAGAA (p.Glu1522=)
c.4525_4529delinsGAGAA (p.Glu1509=)
c.4471_4475delinsGAGAA (p.Glu1491=)
c.4375_4379delinsGAGAA (p.Glu1459=)
c.4345_4349delinsGAGAA (p.Glu1449=)
c.4270_4274delinsGAGAA (p.Glu1424=)
c.4168_4172delinsGAGAA (p.Glu1390=)
c.3799_3803delinsGAGAA (p.Glu1267=)
5g.112840243A>CCA16031519APCc.4703A>C (p.Glu1568Ala)
c.*4655A>C (n.*4655A>C)
c.4595A>C (p.Glu1532Ala)
c.4649A>C (p.Glu1550Ala)
c.*3971A>C (n.*3971A>C)
c.230+11271A>C
c.4679A>C (p.Glu1560Ala)
c.4574A>C (p.Glu1525Ala)
c.4565A>C (p.Glu1522Ala)
c.4526A>C (p.Glu1509Ala)
c.4472A>C (p.Glu1491Ala)
c.4376A>C (p.Glu1459Ala)
c.4346A>C (p.Glu1449Ala)
c.4271A>C (p.Glu1424Ala)
c.4169A>C (p.Glu1390Ala)
c.3800A>C (p.Glu1267Ala)
5g.112840243A>GCA16031520APCc.4703A>G (p.Glu1568Gly)
c.*4655A>G (n.*4655A>G)
c.4595A>G (p.Glu1532Gly)
c.4649A>G (p.Glu1550Gly)
c.*3971A>G (n.*3971A>G)
c.230+11271A>G
c.4679A>G (p.Glu1560Gly)
c.4574A>G (p.Glu1525Gly)
c.4565A>G (p.Glu1522Gly)
c.4526A>G (p.Glu1509Gly)
c.4472A>G (p.Glu1491Gly)
c.4376A>G (p.Glu1459Gly)
c.4346A>G (p.Glu1449Gly)
c.4271A>G (p.Glu1424Gly)
c.4169A>G (p.Glu1390Gly)
c.3800A>G (p.Glu1267Gly)
 dbSNP
5g.112840243A>TCA16031521APCc.4703A>T (p.Glu1568Val)
c.*4655A>T (n.*4655A>T)
c.4595A>T (p.Glu1532Val)
c.4649A>T (p.Glu1550Val)
c.*3971A>T (n.*3971A>T)
c.230+11271A>T
c.4679A>T (p.Glu1560Val)
c.4574A>T (p.Glu1525Val)
c.4565A>T (p.Glu1522Val)
c.4526A>T (p.Glu1509Val)
c.4472A>T (p.Glu1491Val)
c.4376A>T (p.Glu1459Val)
c.4346A>T (p.Glu1449Val)
c.4271A>T (p.Glu1424Val)
c.4169A>T (p.Glu1390Val)
c.3800A>T (p.Glu1267Val)
 dbSNP
5g.112840246_112840249delCA279830APCc.4706_4709del (p.Lys1569ArgfsTer13)
c.*4658_*4661del (n.*4658_*4661del)
c.4598_4601del (p.Lys1533ArgfsTer13)
c.4652_4655del (p.Lys1551ArgfsTer13)
c.*3974_*3977del (n.*3974_*3977del)
c.230+11274_230+11277del
c.4682_4685del (p.Lys1561ArgfsTer13)
c.4577_4580del (p.Lys1526ArgfsTer13)
c.4568_4571del (p.Lys1523ArgfsTer13)
c.4529_4532del (p.Lys1510ArgfsTer13)
c.4475_4478del (p.Lys1492ArgfsTer13)
c.4379_4382del (p.Lys1460ArgfsTer13)
c.4349_4352del (p.Lys1450ArgfsTer13)
c.4274_4277del (p.Lys1425ArgfsTer13)
c.4172_4175del (p.Lys1391ArgfsTer13)
c.3803_3806del (p.Lys1268ArgfsTer13)
 ClinVar dbSNP
5g.112840244delCA645543963APCc.4704del (p.Glu1570ArgfsTer13)
c.*4656del (n.*4656del)
c.4596del (p.Glu1534ArgfsTer13)
c.4650del (p.Glu1552ArgfsTer13)
c.*3972del (n.*3972del)
c.230+11272del
c.4680del (p.Glu1562ArgfsTer13)
c.4575del (p.Glu1527ArgfsTer13)
c.4566del (p.Glu1524ArgfsTer13)
c.4527del (p.Glu1511ArgfsTer13)
c.4473del (p.Glu1493ArgfsTer13)
c.4377del (p.Glu1461ArgfsTer13)
c.4347del (p.Glu1451ArgfsTer13)
c.4272del (p.Glu1426ArgfsTer13)
c.4170del (p.Glu1392ArgfsTer13)
c.3801del (p.Glu1269ArgfsTer13)
 COSMIC
5g.112840244G>ACA446206646APCc.4704G>A (p.Glu1568=)
c.*4656G>A (n.*4656G>A)
c.4596G>A (p.Glu1532=)
c.4650G>A (p.Glu1550=)
c.*3972G>A (n.*3972G>A)
c.230+11272G>A
c.4680G>A (p.Glu1560=)
c.4575G>A (p.Glu1525=)
c.4566G>A (p.Glu1522=)
c.4527G>A (p.Glu1509=)
c.4473G>A (p.Glu1491=)
c.4377G>A (p.Glu1459=)
c.4347G>A (p.Glu1449=)
c.4272G>A (p.Glu1424=)
c.4170G>A (p.Glu1390=)
c.3801G>A (p.Glu1267=)
 dbSNP
5g.112840244G>CCA16031522APCc.4704G>C (p.Glu1568Asp)
c.*4656G>C (n.*4656G>C)
c.4596G>C (p.Glu1532Asp)
c.4650G>C (p.Glu1550Asp)
c.*3972G>C (n.*3972G>C)
c.230+11272G>C
c.4680G>C (p.Glu1560Asp)
c.4575G>C (p.Glu1525Asp)
c.4566G>C (p.Glu1522Asp)
c.4527G>C (p.Glu1509Asp)
c.4473G>C (p.Glu1491Asp)
c.4377G>C (p.Glu1459Asp)
c.4347G>C (p.Glu1449Asp)
c.4272G>C (p.Glu1424Asp)
c.4170G>C (p.Glu1390Asp)
c.3801G>C (p.Glu1267Asp)
 dbSNP
5g.112840244G=CA1573470468APCc.4704G= (p.Glu1568=)
c.*4656G= (n.*4656G=)
c.4596G= (p.Glu1532=)
c.4650G= (p.Glu1550=)
c.*3972G= (n.*3972G=)
c.230+11272G=
c.4680G= (p.Glu1560=)
c.4575G= (p.Glu1525=)
c.4566G= (p.Glu1522=)
c.4527G= (p.Glu1509=)
c.4473G= (p.Glu1491=)
c.4377G= (p.Glu1459=)
c.4347G= (p.Glu1449=)
c.4272G= (p.Glu1424=)
c.4170G= (p.Glu1390=)
c.3801G= (p.Glu1267=)
5g.112840244G>TCA10582315APCc.4704G>T (p.Glu1568Asp)
c.*4656G>T (n.*4656G>T)
c.4596G>T (p.Glu1532Asp)
c.4650G>T (p.Glu1550Asp)
c.*3972G>T (n.*3972G>T)
c.230+11272G>T
c.4680G>T (p.Glu1560Asp)
c.4575G>T (p.Glu1525Asp)
c.4566G>T (p.Glu1522Asp)
c.4527G>T (p.Glu1509Asp)
c.4473G>T (p.Glu1491Asp)
c.4377G>T (p.Glu1459Asp)
c.4347G>T (p.Glu1449Asp)
c.4272G>T (p.Glu1424Asp)
c.4170G>T (p.Glu1390Asp)
c.3801G>T (p.Glu1267Asp)
 ClinVar dbSNP
5g.112840245A>CCA16031523APCc.4705A>C (p.Lys1569Gln)
c.*4657A>C (n.*4657A>C)
c.4597A>C (p.Lys1533Gln)
c.4651A>C (p.Lys1551Gln)
c.*3973A>C (n.*3973A>C)
c.230+11273A>C
c.4681A>C (p.Lys1561Gln)
c.4576A>C (p.Lys1526Gln)
c.4567A>C (p.Lys1523Gln)
c.4528A>C (p.Lys1510Gln)
c.4474A>C (p.Lys1492Gln)
c.4378A>C (p.Lys1460Gln)
c.4348A>C (p.Lys1450Gln)
c.4273A>C (p.Lys1425Gln)
c.4171A>C (p.Lys1391Gln)
c.3802A>C (p.Lys1268Gln)
5g.112840245A>GCA16031524APCc.4705A>G (p.Lys1569Glu)
c.*4657A>G (n.*4657A>G)
c.4597A>G (p.Lys1533Glu)
c.4651A>G (p.Lys1551Glu)
c.*3973A>G (n.*3973A>G)
c.230+11273A>G
c.4681A>G (p.Lys1561Glu)
c.4576A>G (p.Lys1526Glu)
c.4567A>G (p.Lys1523Glu)
c.4528A>G (p.Lys1510Glu)
c.4474A>G (p.Lys1492Glu)
c.4378A>G (p.Lys1460Glu)
c.4348A>G (p.Lys1450Glu)
c.4273A>G (p.Lys1425Glu)
c.4171A>G (p.Lys1391Glu)
c.3802A>G (p.Lys1268Glu)
 dbSNP
5g.112840245A>TCA16031525APCc.4705A>T (p.Lys1569Ter)
c.*4657A>T (n.*4657A>T)
c.4597A>T (p.Lys1533Ter)
c.4651A>T (p.Lys1551Ter)
c.*3973A>T (n.*3973A>T)
c.230+11273A>T
c.4681A>T (p.Lys1561Ter)
c.4576A>T (p.Lys1526Ter)
c.4567A>T (p.Lys1523Ter)
c.4528A>T (p.Lys1510Ter)
c.4474A>T (p.Lys1492Ter)
c.4378A>T (p.Lys1460Ter)
c.4348A>T (p.Lys1450Ter)
c.4273A>T (p.Lys1425Ter)
c.4171A>T (p.Lys1391Ter)
c.3802A>T (p.Lys1268Ter)
 ClinVar dbSNP COSMIC
5g.112840246_112840247delCA658760763APCc.4706_4707del (p.Lys1569ArgfsTer7)
c.*4658_*4659del (n.*4658_*4659del)
c.4598_4599del (p.Lys1533ArgfsTer7)
c.4652_4653del (p.Lys1551ArgfsTer7)
c.*3974_*3975del (n.*3974_*3975del)
c.230+11274_230+11275del
c.4682_4683del (p.Lys1561ArgfsTer7)
c.4577_4578del (p.Lys1526ArgfsTer7)
c.4568_4569del (p.Lys1523ArgfsTer7)
c.4529_4530del (p.Lys1510ArgfsTer7)
c.4475_4476del (p.Lys1492ArgfsTer7)
c.4379_4380del (p.Lys1460ArgfsTer7)
c.4349_4350del (p.Lys1450ArgfsTer7)
c.4274_4275del (p.Lys1425ArgfsTer7)
c.4172_4173del (p.Lys1391ArgfsTer7)
c.3803_3804del (p.Lys1268ArgfsTer7)
 ClinVar
5g.112840246A>CCA16031526APCc.4706A>C (p.Lys1569Thr)
c.*4658A>C (n.*4658A>C)
c.4598A>C (p.Lys1533Thr)
c.4652A>C (p.Lys1551Thr)
c.*3974A>C (n.*3974A>C)
c.230+11274A>C
c.4682A>C (p.Lys1561Thr)
c.4577A>C (p.Lys1526Thr)
c.4568A>C (p.Lys1523Thr)
c.4529A>C (p.Lys1510Thr)
c.4475A>C (p.Lys1492Thr)
c.4379A>C (p.Lys1460Thr)
c.4349A>C (p.Lys1450Thr)
c.4274A>C (p.Lys1425Thr)
c.4172A>C (p.Lys1391Thr)
c.3803A>C (p.Lys1268Thr)
5g.112840246A>GCA16031527APCc.4706A>G (p.Lys1569Arg)
c.*4658A>G (n.*4658A>G)
c.4598A>G (p.Lys1533Arg)
c.4652A>G (p.Lys1551Arg)
c.*3974A>G (n.*3974A>G)
c.230+11274A>G
c.4682A>G (p.Lys1561Arg)
c.4577A>G (p.Lys1526Arg)
c.4568A>G (p.Lys1523Arg)
c.4529A>G (p.Lys1510Arg)
c.4475A>G (p.Lys1492Arg)
c.4379A>G (p.Lys1460Arg)
c.4349A>G (p.Lys1450Arg)
c.4274A>G (p.Lys1425Arg)
c.4172A>G (p.Lys1391Arg)
c.3803A>G (p.Lys1268Arg)
 dbSNP
5g.112840246A>TCA16031528APCc.4706A>T (p.Lys1569Ile)
c.*4658A>T (n.*4658A>T)
c.4598A>T (p.Lys1533Ile)
c.4652A>T (p.Lys1551Ile)
c.*3974A>T (n.*3974A>T)
c.230+11274A>T
c.4682A>T (p.Lys1561Ile)
c.4577A>T (p.Lys1526Ile)
c.4568A>T (p.Lys1523Ile)
c.4529A>T (p.Lys1510Ile)
c.4475A>T (p.Lys1492Ile)
c.4379A>T (p.Lys1460Ile)
c.4349A>T (p.Lys1450Ile)
c.4274A>T (p.Lys1425Ile)
c.4172A>T (p.Lys1391Ile)
c.3803A>T (p.Lys1268Ile)
 dbSNP
5g.112840246_112840248delinsAAGCA1573470474APCc.4706_4708delinsAAG (p.Lys1569=)
c.*4658_*4660delinsAAG (n.*4658_*4660delinsAAG)
c.4598_4600delinsAAG (p.Lys1533=)
c.4652_4654delinsAAG (p.Lys1551=)
c.*3974_*3976delinsAAG (n.*3974_*3976delinsAAG)
c.230+11274_230+11276delinsAAG
c.4682_4684delinsAAG (p.Lys1561=)
c.4577_4579delinsAAG (p.Lys1526=)
c.4568_4570delinsAAG (p.Lys1523=)
c.4529_4531delinsAAG (p.Lys1510=)
c.4475_4477delinsAAG (p.Lys1492=)
c.4379_4381delinsAAG (p.Lys1460=)
c.4349_4351delinsAAG (p.Lys1450=)
c.4274_4276delinsAAG (p.Lys1425=)
c.4172_4174delinsAAG (p.Lys1391=)
c.3803_3805delinsAAG (p.Lys1268=)
5g.112840246_112840250dupCA645543964APCc.4706_4710dup (p.Ala1571LysfsTer14)
c.*4658_*4662dup (n.*4658_*4662dup)
c.4598_4602dup (p.Ala1535LysfsTer14)
c.4652_4656dup (p.Ala1553LysfsTer14)
c.*3974_*3978dup (n.*3974_*3978dup)
c.230+11274_230+11278dup
c.4682_4686dup (p.Ala1563LysfsTer14)
c.4577_4581dup (p.Ala1528LysfsTer14)
c.4568_4572dup (p.Ala1525LysfsTer14)
c.4529_4533dup (p.Ala1512LysfsTer14)
c.4475_4479dup (p.Ala1494LysfsTer14)
c.4379_4383dup (p.Ala1462LysfsTer14)
c.4349_4353dup (p.Ala1452LysfsTer14)
c.4274_4278dup (p.Ala1427LysfsTer14)
c.4172_4176dup (p.Ala1393LysfsTer14)
c.3803_3807dup (p.Ala1270LysfsTer14)
 COSMIC
5g.112840247A>CCA16031529APCc.4707A>C (p.Lys1569Asn)
c.*4659A>C (n.*4659A>C)
c.4599A>C (p.Lys1533Asn)
c.4653A>C (p.Lys1551Asn)
c.*3975A>C (n.*3975A>C)
c.230+11275A>C
c.4683A>C (p.Lys1561Asn)
c.4578A>C (p.Lys1526Asn)
c.4569A>C (p.Lys1523Asn)
c.4530A>C (p.Lys1510Asn)
c.4476A>C (p.Lys1492Asn)
c.4380A>C (p.Lys1460Asn)
c.4350A>C (p.Lys1450Asn)
c.4275A>C (p.Lys1425Asn)
c.4173A>C (p.Lys1391Asn)
c.3804A>C (p.Lys1268Asn)
5g.112840247A>GCA446206647APCc.4707A>G (p.Lys1569=)
c.*4659A>G (n.*4659A>G)
c.4599A>G (p.Lys1533=)
c.4653A>G (p.Lys1551=)
c.*3975A>G (n.*3975A>G)
c.230+11275A>G
c.4683A>G (p.Lys1561=)
c.4578A>G (p.Lys1526=)
c.4569A>G (p.Lys1523=)
c.4530A>G (p.Lys1510=)
c.4476A>G (p.Lys1492=)
c.4380A>G (p.Lys1460=)
c.4350A>G (p.Lys1450=)
c.4275A>G (p.Lys1425=)
c.4173A>G (p.Lys1391=)
c.3804A>G (p.Lys1268=)
 ClinVar dbSNP
5g.112840247A>TCA16031530APCc.4707A>T (p.Lys1569Asn)
c.*4659A>T (n.*4659A>T)
c.4599A>T (p.Lys1533Asn)
c.4653A>T (p.Lys1551Asn)
c.*3975A>T (n.*3975A>T)
c.230+11275A>T
c.4683A>T (p.Lys1561Asn)
c.4578A>T (p.Lys1526Asn)
c.4569A>T (p.Lys1523Asn)
c.4530A>T (p.Lys1510Asn)
c.4476A>T (p.Lys1492Asn)
c.4380A>T (p.Lys1460Asn)
c.4350A>T (p.Lys1450Asn)
c.4275A>T (p.Lys1425Asn)
c.4173A>T (p.Lys1391Asn)
c.3804A>T (p.Lys1268Asn)
 dbSNP
5g.112840247_112840250delCA645543965APCc.4707_4710del (p.Glu1570GlnfsTer12)
c.*4659_*4662del (n.*4659_*4662del)
c.4599_4602del (p.Glu1534GlnfsTer12)
c.4653_4656del (p.Glu1552GlnfsTer12)
c.*3975_*3978del (n.*3975_*3978del)
c.230+11275_230+11278del
c.4683_4686del (p.Glu1562GlnfsTer12)
c.4578_4581del (p.Glu1527GlnfsTer12)
c.4569_4572del (p.Glu1524GlnfsTer12)
c.4530_4533del (p.Glu1511GlnfsTer12)
c.4476_4479del (p.Glu1493GlnfsTer12)
c.4380_4383del (p.Glu1461GlnfsTer12)
c.4350_4353del (p.Glu1451GlnfsTer12)
c.4275_4278del (p.Glu1426GlnfsTer12)
c.4173_4176del (p.Glu1392GlnfsTer12)
c.3804_3807del (p.Glu1269GlnfsTer12)
 COSMIC
5g.112840249_112840250delCA658760764APCc.4709_4710del (p.Glu1570GlyfsTer6)
c.*4661_*4662del (n.*4661_*4662del)
c.4601_4602del (p.Glu1534GlyfsTer6)
c.4655_4656del (p.Glu1552GlyfsTer6)
c.*3977_*3978del (n.*3977_*3978del)
c.230+11277_230+11278del
c.4685_4686del (p.Glu1562GlyfsTer6)
c.4580_4581del (p.Glu1527GlyfsTer6)
c.4571_4572del (p.Glu1524GlyfsTer6)
c.4532_4533del (p.Glu1511GlyfsTer6)
c.4478_4479del (p.Glu1493GlyfsTer6)
c.4382_4383del (p.Glu1461GlyfsTer6)
c.4352_4353del (p.Glu1451GlyfsTer6)
c.4277_4278del (p.Glu1426GlyfsTer6)
c.4175_4176del (p.Glu1392GlyfsTer6)
c.3806_3807del (p.Glu1269GlyfsTer6)
 ClinVar dbSNP
5g.112840248G>ACA16031531APCc.4708G>A (p.Glu1570Lys)
c.*4660G>A (n.*4660G>A)
c.4600G>A (p.Glu1534Lys)
c.4654G>A (p.Glu1552Lys)
c.*3976G>A (n.*3976G>A)
c.230+11276G>A
c.4684G>A (p.Glu1562Lys)
c.4579G>A (p.Glu1527Lys)
c.4570G>A (p.Glu1524Lys)
c.4531G>A (p.Glu1511Lys)
c.4477G>A (p.Glu1493Lys)
c.4381G>A (p.Glu1461Lys)
c.4351G>A (p.Glu1451Lys)
c.4276G>A (p.Glu1426Lys)
c.4174G>A (p.Glu1392Lys)
c.3805G>A (p.Glu1269Lys)
 dbSNP
5g.112840248G>CCA16031532APCc.4708G>C (p.Glu1570Gln)
c.*4660G>C (n.*4660G>C)
c.4600G>C (p.Glu1534Gln)
c.4654G>C (p.Glu1552Gln)
c.*3976G>C (n.*3976G>C)
c.230+11276G>C
c.4684G>C (p.Glu1562Gln)
c.4579G>C (p.Glu1527Gln)
c.4570G>C (p.Glu1524Gln)
c.4531G>C (p.Glu1511Gln)
c.4477G>C (p.Glu1493Gln)
c.4381G>C (p.Glu1461Gln)
c.4351G>C (p.Glu1451Gln)
c.4276G>C (p.Glu1426Gln)
c.4174G>C (p.Glu1392Gln)
c.3805G>C (p.Glu1269Gln)
5g.112840248G>TCA16031533APCc.4708G>T (p.Glu1570Ter)
c.*4660G>T (n.*4660G>T)
c.4600G>T (p.Glu1534Ter)
c.4654G>T (p.Glu1552Ter)
c.*3976G>T (n.*3976G>T)
c.230+11276G>T
c.4684G>T (p.Glu1562Ter)
c.4579G>T (p.Glu1527Ter)
c.4570G>T (p.Glu1524Ter)
c.4531G>T (p.Glu1511Ter)
c.4477G>T (p.Glu1493Ter)
c.4381G>T (p.Glu1461Ter)
c.4351G>T (p.Glu1451Ter)
c.4276G>T (p.Glu1426Ter)
c.4174G>T (p.Glu1392Ter)
c.3805G>T (p.Glu1269Ter)
 ClinVar COSMIC
5g.112840248delinsAACA2582341333APCc.4708delinsAA (p.Glu1570LysfsTer7)
c.*4660delinsAA (n.*4660delinsAA)
c.4600delinsAA (p.Glu1534LysfsTer7)
c.4654delinsAA (p.Glu1552LysfsTer7)
c.*3976delinsAA (n.*3976delinsAA)
c.230+11276delinsAA
c.4684delinsAA (p.Glu1562LysfsTer7)
c.4579delinsAA (p.Glu1527LysfsTer7)
c.4570delinsAA (p.Glu1524LysfsTer7)
c.4531delinsAA (p.Glu1511LysfsTer7)
c.4477delinsAA (p.Glu1493LysfsTer7)
c.4381delinsAA (p.Glu1461LysfsTer7)
c.4351delinsAA (p.Glu1451LysfsTer7)
c.4276delinsAA (p.Glu1426LysfsTer7)
c.4174delinsAA (p.Glu1392LysfsTer7)
c.3805delinsAA (p.Glu1269LysfsTer7)
 ClinVar
5g.112840248_112840251delCA658760765APCc.4708_4711del (p.Glu1570GlnfsTer12)
c.*4660_*4663del (n.*4660_*4663del)
c.4600_4603del (p.Glu1534GlnfsTer12)
c.4654_4657del (p.Glu1552GlnfsTer12)
c.*3976_*3979del (n.*3976_*3979del)
c.230+11276_230+11279del
c.4684_4687del (p.Glu1562GlnfsTer12)
c.4579_4582del (p.Glu1527GlnfsTer12)
c.4570_4573del (p.Glu1524GlnfsTer12)
c.4531_4534del (p.Glu1511GlnfsTer12)
c.4477_4480del (p.Glu1493GlnfsTer12)
c.4381_4384del (p.Glu1461GlnfsTer12)
c.4351_4354del (p.Glu1451GlnfsTer12)
c.4276_4279del (p.Glu1426GlnfsTer12)
c.4174_4177del (p.Glu1392GlnfsTer12)
c.3805_3808del (p.Glu1269GlnfsTer12)
5g.112840249A>CCA16031534APCc.4709A>C (p.Glu1570Ala)
c.*4661A>C (n.*4661A>C)
c.4601A>C (p.Glu1534Ala)
c.4655A>C (p.Glu1552Ala)
c.*3977A>C (n.*3977A>C)
c.230+11277A>C
c.4685A>C (p.Glu1562Ala)
c.4580A>C (p.Glu1527Ala)
c.4571A>C (p.Glu1524Ala)
c.4532A>C (p.Glu1511Ala)
c.4478A>C (p.Glu1493Ala)
c.4382A>C (p.Glu1461Ala)
c.4352A>C (p.Glu1451Ala)
c.4277A>C (p.Glu1426Ala)
c.4175A>C (p.Glu1392Ala)
c.3806A>C (p.Glu1269Ala)
5g.112840249A>GCA16031535APCc.4709A>G (p.Glu1570Gly)
c.*4661A>G (n.*4661A>G)
c.4601A>G (p.Glu1534Gly)
c.4655A>G (p.Glu1552Gly)
c.*3977A>G (n.*3977A>G)
c.230+11277A>G
c.4685A>G (p.Glu1562Gly)
c.4580A>G (p.Glu1527Gly)
c.4571A>G (p.Glu1524Gly)
c.4532A>G (p.Glu1511Gly)
c.4478A>G (p.Glu1493Gly)
c.4382A>G (p.Glu1461Gly)
c.4352A>G (p.Glu1451Gly)
c.4277A>G (p.Glu1426Gly)
c.4175A>G (p.Glu1392Gly)
c.3806A>G (p.Glu1269Gly)
 dbSNP
5g.112840249A>TCA16031536APCc.4709A>T (p.Glu1570Val)
c.*4661A>T (n.*4661A>T)
c.4601A>T (p.Glu1534Val)
c.4655A>T (p.Glu1552Val)
c.*3977A>T (n.*3977A>T)
c.230+11277A>T
c.4685A>T (p.Glu1562Val)
c.4580A>T (p.Glu1527Val)
c.4571A>T (p.Glu1524Val)
c.4532A>T (p.Glu1511Val)
c.4478A>T (p.Glu1493Val)
c.4382A>T (p.Glu1461Val)
c.4352A>T (p.Glu1451Val)
c.4277A>T (p.Glu1426Val)
c.4175A>T (p.Glu1392Val)
c.3806A>T (p.Glu1269Val)
 dbSNP
5g.112840250G>ACA446206648APCc.4710G>A (p.Glu1570=)
c.*4662G>A (n.*4662G>A)
c.4602G>A (p.Glu1534=)
c.4656G>A (p.Glu1552=)
c.*3978G>A (n.*3978G>A)
c.230+11278G>A
c.4686G>A (p.Glu1562=)
c.4581G>A (p.Glu1527=)
c.4572G>A (p.Glu1524=)
c.4533G>A (p.Glu1511=)
c.4479G>A (p.Glu1493=)
c.4383G>A (p.Glu1461=)
c.4353G>A (p.Glu1451=)
c.4278G>A (p.Glu1426=)
c.4176G>A (p.Glu1392=)
c.3807G>A (p.Glu1269=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840250G>CCA16031537APCc.4710G>C (p.Glu1570Asp)
c.*4662G>C (n.*4662G>C)
c.4602G>C (p.Glu1534Asp)
c.4656G>C (p.Glu1552Asp)
c.*3978G>C (n.*3978G>C)
c.230+11278G>C
c.4686G>C (p.Glu1562Asp)
c.4581G>C (p.Glu1527Asp)
c.4572G>C (p.Glu1524Asp)
c.4533G>C (p.Glu1511Asp)
c.4479G>C (p.Glu1493Asp)
c.4383G>C (p.Glu1461Asp)
c.4353G>C (p.Glu1451Asp)
c.4278G>C (p.Glu1426Asp)
c.4176G>C (p.Glu1392Asp)
c.3807G>C (p.Glu1269Asp)
 dbSNP
5g.112840250G=CA1573470521APCc.4710G= (p.Glu1570=)
c.*4662G= (n.*4662G=)
c.4602G= (p.Glu1534=)
c.4656G= (p.Glu1552=)
c.*3978G= (n.*3978G=)
c.230+11278G=
c.4686G= (p.Glu1562=)
c.4581G= (p.Glu1527=)
c.4572G= (p.Glu1524=)
c.4533G= (p.Glu1511=)
c.4479G= (p.Glu1493=)
c.4383G= (p.Glu1461=)
c.4353G= (p.Glu1451=)
c.4278G= (p.Glu1426=)
c.4176G= (p.Glu1392=)
c.3807G= (p.Glu1269=)
5g.112840250G>TCA16031538APCc.4710G>T (p.Glu1570Asp)
c.*4662G>T (n.*4662G>T)
c.4602G>T (p.Glu1534Asp)
c.4656G>T (p.Glu1552Asp)
c.*3978G>T (n.*3978G>T)
c.230+11278G>T
c.4686G>T (p.Glu1562Asp)
c.4581G>T (p.Glu1527Asp)
c.4572G>T (p.Glu1524Asp)
c.4533G>T (p.Glu1511Asp)
c.4479G>T (p.Glu1493Asp)
c.4383G>T (p.Glu1461Asp)
c.4353G>T (p.Glu1451Asp)
c.4278G>T (p.Glu1426Asp)
c.4176G>T (p.Glu1392Asp)
c.3807G>T (p.Glu1269Asp)
 dbSNP
5g.112840251delCA645543966APCc.4711del (p.Ala1571GlnfsTer12)
c.*4663del (n.*4663del)
c.4603del (p.Ala1535GlnfsTer12)
c.4657del (p.Ala1553GlnfsTer12)
c.*3979del (n.*3979del)
c.230+11279del
c.4687del (p.Ala1563GlnfsTer12)
c.4582del (p.Ala1528GlnfsTer12)
c.4573del (p.Ala1525GlnfsTer12)
c.4534del (p.Ala1512GlnfsTer12)
c.4480del (p.Ala1494GlnfsTer12)
c.4384del (p.Ala1462GlnfsTer12)
c.4354del (p.Ala1452GlnfsTer12)
c.4279del (p.Ala1427GlnfsTer12)
c.4177del (p.Ala1393GlnfsTer12)
c.3808del (p.Ala1270GlnfsTer12)
 COSMIC
5g.112840250_112840251insTTTTTTCTCA1573470529APCc.4710_4711insTTTTTTCT (p.Ala1571PhefsTer15)
c.*4662_*4663insTTTTTTCT (n.*4662_*4663insTTTTTTCT)
c.4602_4603insTTTTTTCT (p.Ala1535PhefsTer15)
c.4656_4657insTTTTTTCT (p.Ala1553PhefsTer15)
c.*3978_*3979insTTTTTTCT (n.*3978_*3979insTTTTTTCT)
c.230+11278_230+11279insTTTTTTCT
c.4686_4687insTTTTTTCT (p.Ala1563PhefsTer15)
c.4581_4582insTTTTTTCT (p.Ala1528PhefsTer15)
c.4572_4573insTTTTTTCT (p.Ala1525PhefsTer15)
c.4533_4534insTTTTTTCT (p.Ala1512PhefsTer15)
c.4479_4480insTTTTTTCT (p.Ala1494PhefsTer15)
c.4383_4384insTTTTTTCT (p.Ala1462PhefsTer15)
c.4353_4354insTTTTTTCT (p.Ala1452PhefsTer15)
c.4278_4279insTTTTTTCT (p.Ala1427PhefsTer15)
c.4176_4177insTTTTTTCT (p.Ala1393PhefsTer15)
c.3807_3808insTTTTTTCT (p.Ala1270PhefsTer15)
 dbSNP
5g.112840251G>ACA16031539APCc.4711G>A (p.Ala1571Thr)
c.*4663G>A (n.*4663G>A)
c.4603G>A (p.Ala1535Thr)
c.4657G>A (p.Ala1553Thr)
c.*3979G>A (n.*3979G>A)
c.230+11279G>A
c.4687G>A (p.Ala1563Thr)
c.4582G>A (p.Ala1528Thr)
c.4573G>A (p.Ala1525Thr)
c.4534G>A (p.Ala1512Thr)
c.4480G>A (p.Ala1494Thr)
c.4384G>A (p.Ala1462Thr)
c.4354G>A (p.Ala1452Thr)
c.4279G>A (p.Ala1427Thr)
c.4177G>A (p.Ala1393Thr)
c.3808G>A (p.Ala1270Thr)
 ClinVar dbSNP COSMIC
5g.112840251G>CCA16031540APCc.4711G>C (p.Ala1571Pro)
c.*4663G>C (n.*4663G>C)
c.4603G>C (p.Ala1535Pro)
c.4657G>C (p.Ala1553Pro)
c.*3979G>C (n.*3979G>C)
c.230+11279G>C
c.4687G>C (p.Ala1563Pro)
c.4582G>C (p.Ala1528Pro)
c.4573G>C (p.Ala1525Pro)
c.4534G>C (p.Ala1512Pro)
c.4480G>C (p.Ala1494Pro)
c.4384G>C (p.Ala1462Pro)
c.4354G>C (p.Ala1452Pro)
c.4279G>C (p.Ala1427Pro)
c.4177G>C (p.Ala1393Pro)
c.3808G>C (p.Ala1270Pro)
 ClinVar dbSNP
5g.112840251G=CA1573470535APCc.4711G= (p.Ala1571=)
c.*4663G= (n.*4663G=)
c.4603G= (p.Ala1535=)
c.4657G= (p.Ala1553=)
c.*3979G= (n.*3979G=)
c.230+11279G=
c.4687G= (p.Ala1563=)
c.4582G= (p.Ala1528=)
c.4573G= (p.Ala1525=)
c.4534G= (p.Ala1512=)
c.4480G= (p.Ala1494=)
c.4384G= (p.Ala1462=)
c.4354G= (p.Ala1452=)
c.4279G= (p.Ala1427=)
c.4177G= (p.Ala1393=)
c.3808G= (p.Ala1270=)
5g.112840251G>TCA16031541APCc.4711G>T (p.Ala1571Ser)
c.*4663G>T (n.*4663G>T)
c.4603G>T (p.Ala1535Ser)
c.4657G>T (p.Ala1553Ser)
c.*3979G>T (n.*3979G>T)
c.230+11279G>T
c.4687G>T (p.Ala1563Ser)
c.4582G>T (p.Ala1528Ser)
c.4573G>T (p.Ala1525Ser)
c.4534G>T (p.Ala1512Ser)
c.4480G>T (p.Ala1494Ser)
c.4384G>T (p.Ala1462Ser)
c.4354G>T (p.Ala1452Ser)
c.4279G>T (p.Ala1427Ser)
c.4177G>T (p.Ala1393Ser)
c.3808G>T (p.Ala1270Ser)
 ClinVar dbSNP
5g.112840252C>ACA16031542APCc.4712C>A (p.Ala1571Glu)
c.*4664C>A (n.*4664C>A)
c.4604C>A (p.Ala1535Glu)
c.4658C>A (p.Ala1553Glu)
c.*3980C>A (n.*3980C>A)
c.230+11280C>A
c.4688C>A (p.Ala1563Glu)
c.4583C>A (p.Ala1528Glu)
c.4574C>A (p.Ala1525Glu)
c.4535C>A (p.Ala1512Glu)
c.4481C>A (p.Ala1494Glu)
c.4385C>A (p.Ala1462Glu)
c.4355C>A (p.Ala1452Glu)
c.4280C>A (p.Ala1427Glu)
c.4178C>A (p.Ala1393Glu)
c.3809C>A (p.Ala1270Glu)
 dbSNP
5g.112840252C=CA1573470543APCc.4712C= (p.Ala1571=)
c.*4664C= (n.*4664C=)
c.4604C= (p.Ala1535=)
c.4658C= (p.Ala1553=)
c.*3980C= (n.*3980C=)
c.230+11280C=
c.4688C= (p.Ala1563=)
c.4583C= (p.Ala1528=)
c.4574C= (p.Ala1525=)
c.4535C= (p.Ala1512=)
c.4481C= (p.Ala1494=)
c.4385C= (p.Ala1462=)
c.4355C= (p.Ala1452=)
c.4280C= (p.Ala1427=)
c.4178C= (p.Ala1393=)
c.3809C= (p.Ala1270=)
5g.112840252C>GCA16031543APCc.4712C>G (p.Ala1571Gly)
c.*4664C>G (n.*4664C>G)
c.4604C>G (p.Ala1535Gly)
c.4658C>G (p.Ala1553Gly)
c.*3980C>G (n.*3980C>G)
c.230+11280C>G
c.4688C>G (p.Ala1563Gly)
c.4583C>G (p.Ala1528Gly)
c.4574C>G (p.Ala1525Gly)
c.4535C>G (p.Ala1512Gly)
c.4481C>G (p.Ala1494Gly)
c.4385C>G (p.Ala1462Gly)
c.4355C>G (p.Ala1452Gly)
c.4280C>G (p.Ala1427Gly)
c.4178C>G (p.Ala1393Gly)
c.3809C>G (p.Ala1270Gly)
 dbSNP
5g.112840252C>TCA16031544APCc.4712C>T (p.Ala1571Val)
c.*4664C>T (n.*4664C>T)
c.4604C>T (p.Ala1535Val)
c.4658C>T (p.Ala1553Val)
c.*3980C>T (n.*3980C>T)
c.230+11280C>T
c.4688C>T (p.Ala1563Val)
c.4583C>T (p.Ala1528Val)
c.4574C>T (p.Ala1525Val)
c.4535C>T (p.Ala1512Val)
c.4481C>T (p.Ala1494Val)
c.4385C>T (p.Ala1462Val)
c.4355C>T (p.Ala1452Val)
c.4280C>T (p.Ala1427Val)
c.4178C>T (p.Ala1393Val)
c.3809C>T (p.Ala1270Val)
 ClinVar dbSNP
5g.112840252_112840260delinsCAGAAAAAACA1573470545APCc.4712_4720delinsCAGAAAAAA (p.Ala1571=)
c.*4664_*4672delinsCAGAAAAAA (n.*4664_*4672delinsCAGAAAAAA)
c.4604_4612delinsCAGAAAAAA (p.Ala1535=)
c.4658_4666delinsCAGAAAAAA (p.Ala1553=)
c.*3980_*3988delinsCAGAAAAAA (n.*3980_*3988delinsCAGAAAAAA)
c.230+11280_230+11288delinsCAGAAAAAA
c.4688_4696delinsCAGAAAAAA (p.Ala1563=)
c.4583_4591delinsCAGAAAAAA (p.Ala1528=)
c.4574_4582delinsCAGAAAAAA (p.Ala1525=)
c.4535_4543delinsCAGAAAAAA (p.Ala1512=)
c.4481_4489delinsCAGAAAAAA (p.Ala1494=)
c.4385_4393delinsCAGAAAAAA (p.Ala1462=)
c.4355_4363delinsCAGAAAAAA (p.Ala1452=)
c.4280_4288delinsCAGAAAAAA (p.Ala1427=)
c.4178_4186delinsCAGAAAAAA (p.Ala1393=)
c.3809_3817delinsCAGAAAAAA (p.Ala1270=)
5g.112840253delCA446206652APCc.4713del (p.Glu1572LysfsTer11)
c.*4665del (n.*4665del)
c.4605del (p.Glu1536LysfsTer11)
c.4659del (p.Glu1554LysfsTer11)
c.*3981del (n.*3981del)
c.230+11281del
c.4689del (p.Glu1564LysfsTer11)
c.4584del (p.Glu1529LysfsTer11)
c.4575del (p.Glu1526LysfsTer11)
c.4536del (p.Glu1513LysfsTer11)
c.4482del (p.Glu1495LysfsTer11)
c.4386del (p.Glu1463LysfsTer11)
c.4356del (p.Glu1453LysfsTer11)
c.4281del (p.Glu1428LysfsTer11)
c.4179del (p.Glu1394LysfsTer11)
c.3810del (p.Glu1271LysfsTer11)
 COSMIC
5g.112840253A>CCA446206649APCc.4713A>C (p.Ala1571=)
c.*4665A>C (n.*4665A>C)
c.4605A>C (p.Ala1535=)
c.4659A>C (p.Ala1553=)
c.*3981A>C (n.*3981A>C)
c.230+11281A>C
c.4689A>C (p.Ala1563=)
c.4584A>C (p.Ala1528=)
c.4575A>C (p.Ala1525=)
c.4536A>C (p.Ala1512=)
c.4482A>C (p.Ala1494=)
c.4386A>C (p.Ala1462=)
c.4356A>C (p.Ala1452=)
c.4281A>C (p.Ala1427=)
c.4179A>C (p.Ala1393=)
c.3810A>C (p.Ala1270=)
 ClinVar gnomAD v4
5g.112840253A>GCA446206650APCc.4713A>G (p.Ala1571=)
c.*4665A>G (n.*4665A>G)
c.4605A>G (p.Ala1535=)
c.4659A>G (p.Ala1553=)
c.*3981A>G (n.*3981A>G)
c.230+11281A>G
c.4689A>G (p.Ala1563=)
c.4584A>G (p.Ala1528=)
c.4575A>G (p.Ala1525=)
c.4536A>G (p.Ala1512=)
c.4482A>G (p.Ala1494=)
c.4386A>G (p.Ala1462=)
c.4356A>G (p.Ala1452=)
c.4281A>G (p.Ala1427=)
c.4179A>G (p.Ala1393=)
c.3810A>G (p.Ala1270=)
 ClinVar gnomAD v4 COSMIC
5g.112840253A>TCA446206651APCc.4713A>T (p.Ala1571=)
c.*4665A>T (n.*4665A>T)
c.4605A>T (p.Ala1535=)
c.4659A>T (p.Ala1553=)
c.*3981A>T (n.*3981A>T)
c.230+11281A>T
c.4689A>T (p.Ala1563=)
c.4584A>T (p.Ala1528=)
c.4575A>T (p.Ala1525=)
c.4536A>T (p.Ala1512=)
c.4482A>T (p.Ala1494=)
c.4386A>T (p.Ala1462=)
c.4356A>T (p.Ala1452=)
c.4281A>T (p.Ala1427=)
c.4179A>T (p.Ala1393=)
c.3810A>T (p.Ala1270=)
 dbSNP
5g.112840253dupCA658760768APCc.4713dup (p.Glu1572ArgfsTer5)
c.*4665dup (n.*4665dup)
c.4605dup (p.Glu1536ArgfsTer5)
c.4659dup (p.Glu1554ArgfsTer5)
c.*3981dup (n.*3981dup)
c.230+11281dup
c.4689dup (p.Glu1564ArgfsTer5)
c.4584dup (p.Glu1529ArgfsTer5)
c.4575dup (p.Glu1526ArgfsTer5)
c.4536dup (p.Glu1513ArgfsTer5)
c.4482dup (p.Glu1495ArgfsTer5)
c.4386dup (p.Glu1463ArgfsTer5)
c.4356dup (p.Glu1453ArgfsTer5)
c.4281dup (p.Glu1428ArgfsTer5)
c.4179dup (p.Glu1394ArgfsTer5)
c.3810dup (p.Glu1271ArgfsTer5)
5g.112840254_112840255delCA2695205300APCc.4714_4715del (p.Glu1572LysfsTer4)
c.*4666_*4667del (n.*4666_*4667del)
c.4606_4607del (p.Glu1536LysfsTer4)
c.4660_4661del (p.Glu1554LysfsTer4)
c.*3982_*3983del (n.*3982_*3983del)
c.230+11282_230+11283del
c.4690_4691del (p.Glu1564LysfsTer4)
c.4585_4586del (p.Glu1529LysfsTer4)
c.4576_4577del (p.Glu1526LysfsTer4)
c.4537_4538del (p.Glu1513LysfsTer4)
c.4483_4484del (p.Glu1495LysfsTer4)
c.4387_4388del (p.Glu1463LysfsTer4)
c.4357_4358del (p.Glu1453LysfsTer4)
c.4282_4283del (p.Glu1428LysfsTer4)
c.4180_4181del (p.Glu1394LysfsTer4)
c.3811_3812del (p.Glu1271LysfsTer4)
5g.112840254_112840258delCA645543967APCc.4714_4718del (p.Glu1572AsnfsTer3)
c.*4666_*4670del (n.*4666_*4670del)
c.4606_4610del (p.Glu1536AsnfsTer3)
c.4660_4664del (p.Glu1554AsnfsTer3)
c.*3982_*3986del (n.*3982_*3986del)
c.230+11282_230+11286del
c.4690_4694del (p.Glu1564AsnfsTer3)
c.4585_4589del (p.Glu1529AsnfsTer3)
c.4576_4580del (p.Glu1526AsnfsTer3)
c.4537_4541del (p.Glu1513AsnfsTer3)
c.4483_4487del (p.Glu1495AsnfsTer3)
c.4387_4391del (p.Glu1463AsnfsTer3)
c.4357_4361del (p.Glu1453AsnfsTer3)
c.4282_4286del (p.Glu1428AsnfsTer3)
c.4180_4184del (p.Glu1394AsnfsTer3)
c.3811_3815del (p.Glu1271AsnfsTer3)
 COSMIC
5g.112840253_112840260delCA1573470554APCc.4713_4720del (p.Glu1572TyrfsTer2)
c.*4665_*4672del (n.*4665_*4672del)
c.4605_4612del (p.Glu1536TyrfsTer2)
c.4659_4666del (p.Glu1554TyrfsTer2)
c.*3981_*3988del (n.*3981_*3988del)
c.230+11281_230+11288del
c.4689_4696del (p.Glu1564TyrfsTer2)
c.4584_4591del (p.Glu1529TyrfsTer2)
c.4575_4582del (p.Glu1526TyrfsTer2)
c.4536_4543del (p.Glu1513TyrfsTer2)
c.4482_4489del (p.Glu1495TyrfsTer2)
c.4386_4393del (p.Glu1463TyrfsTer2)
c.4356_4363del (p.Glu1453TyrfsTer2)
c.4281_4288del (p.Glu1428TyrfsTer2)
c.4179_4186del (p.Glu1394TyrfsTer2)
c.3810_3817del (p.Glu1271TyrfsTer2)
 dbSNP
5g.112840254G>ACA16031545APCc.4714G>A (p.Glu1572Lys)
c.*4666G>A (n.*4666G>A)
c.4606G>A (p.Glu1536Lys)
c.4660G>A (p.Glu1554Lys)
c.*3982G>A (n.*3982G>A)
c.230+11282G>A
c.4690G>A (p.Glu1564Lys)
c.4585G>A (p.Glu1529Lys)
c.4576G>A (p.Glu1526Lys)
c.4537G>A (p.Glu1513Lys)
c.4483G>A (p.Glu1495Lys)
c.4387G>A (p.Glu1463Lys)
c.4357G>A (p.Glu1453Lys)
c.4282G>A (p.Glu1428Lys)
c.4180G>A (p.Glu1394Lys)
c.3811G>A (p.Glu1271Lys)
 dbSNP gnomAD v2
5g.112840254G>CCA16031546APCc.4714G>C (p.Glu1572Gln)
c.*4666G>C (n.*4666G>C)
c.4606G>C (p.Glu1536Gln)
c.4660G>C (p.Glu1554Gln)
c.*3982G>C (n.*3982G>C)
c.230+11282G>C
c.4690G>C (p.Glu1564Gln)
c.4585G>C (p.Glu1529Gln)
c.4576G>C (p.Glu1526Gln)
c.4537G>C (p.Glu1513Gln)
c.4483G>C (p.Glu1495Gln)
c.4387G>C (p.Glu1463Gln)
c.4357G>C (p.Glu1453Gln)
c.4282G>C (p.Glu1428Gln)
c.4180G>C (p.Glu1394Gln)
c.3811G>C (p.Glu1271Gln)
5g.112840254G=CA1573470574APCc.4714G= (p.Glu1572=)
c.*4666G= (n.*4666G=)
c.4606G= (p.Glu1536=)
c.4660G= (p.Glu1554=)
c.*3982G= (n.*3982G=)
c.230+11282G=
c.4690G= (p.Glu1564=)
c.4585G= (p.Glu1529=)
c.4576G= (p.Glu1526=)
c.4537G= (p.Glu1513=)
c.4483G= (p.Glu1495=)
c.4387G= (p.Glu1463=)
c.4357G= (p.Glu1453=)
c.4282G= (p.Glu1428=)
c.4180G= (p.Glu1394=)
c.3811G= (p.Glu1271=)
5g.112840254G>TCA16031547APCc.4714G>T (p.Glu1572Ter)
c.*4666G>T (n.*4666G>T)
c.4606G>T (p.Glu1536Ter)
c.4660G>T (p.Glu1554Ter)
c.*3982G>T (n.*3982G>T)
c.230+11282G>T
c.4690G>T (p.Glu1564Ter)
c.4585G>T (p.Glu1529Ter)
c.4576G>T (p.Glu1526Ter)
c.4537G>T (p.Glu1513Ter)
c.4483G>T (p.Glu1495Ter)
c.4387G>T (p.Glu1463Ter)
c.4357G>T (p.Glu1453Ter)
c.4282G>T (p.Glu1428Ter)
c.4180G>T (p.Glu1394Ter)
c.3811G>T (p.Glu1271Ter)
 ClinVar dbSNP COSMIC
5g.112840254dupCA645543968APCc.4714dup (p.Glu1572GlyfsTer5)
c.*4666dup (n.*4666dup)
c.4606dup (p.Glu1536GlyfsTer5)
c.4660dup (p.Glu1554GlyfsTer5)
c.*3982dup (n.*3982dup)
c.230+11282dup
c.4690dup (p.Glu1564GlyfsTer5)
c.4585dup (p.Glu1529GlyfsTer5)
c.4576dup (p.Glu1526GlyfsTer5)
c.4537dup (p.Glu1513GlyfsTer5)
c.4483dup (p.Glu1495GlyfsTer5)
c.4387dup (p.Glu1463GlyfsTer5)
c.4357dup (p.Glu1453GlyfsTer5)
c.4282dup (p.Glu1428GlyfsTer5)
c.4180dup (p.Glu1394GlyfsTer5)
c.3811dup (p.Glu1271GlyfsTer5)
 COSMIC
5g.112840254_112840255delinsGACA1573470566APCc.4714_4715delinsGA (p.Glu1572=)
c.*4666_*4667delinsGA (n.*4666_*4667delinsGA)
c.4606_4607delinsGA (p.Glu1536=)
c.4660_4661delinsGA (p.Glu1554=)
c.*3982_*3983delinsGA (n.*3982_*3983delinsGA)
c.230+11282_230+11283delinsGA
c.4690_4691delinsGA (p.Glu1564=)
c.4585_4586delinsGA (p.Glu1529=)
c.4576_4577delinsGA (p.Glu1526=)
c.4537_4538delinsGA (p.Glu1513=)
c.4483_4484delinsGA (p.Glu1495=)
c.4387_4388delinsGA (p.Glu1463=)
c.4357_4358delinsGA (p.Glu1453=)
c.4282_4283delinsGA (p.Glu1428=)
c.4180_4181delinsGA (p.Glu1394=)
c.3811_3812delinsGA (p.Glu1271=)
5g.112840255A>CCA16031548APCc.4715A>C (p.Glu1572Ala)
c.*4667A>C (n.*4667A>C)
c.4607A>C (p.Glu1536Ala)
c.4661A>C (p.Glu1554Ala)
c.*3983A>C (n.*3983A>C)
c.230+11283A>C
c.4691A>C (p.Glu1564Ala)
c.4586A>C (p.Glu1529Ala)
c.4577A>C (p.Glu1526Ala)
c.4538A>C (p.Glu1513Ala)
c.4484A>C (p.Glu1495Ala)
c.4388A>C (p.Glu1463Ala)
c.4358A>C (p.Glu1453Ala)
c.4283A>C (p.Glu1428Ala)
c.4181A>C (p.Glu1394Ala)
c.3812A>C (p.Glu1271Ala)
5g.112840255A>GCA16031549APCc.4715A>G (p.Glu1572Gly)
c.*4667A>G (n.*4667A>G)
c.4607A>G (p.Glu1536Gly)
c.4661A>G (p.Glu1554Gly)
c.*3983A>G (n.*3983A>G)
c.230+11283A>G
c.4691A>G (p.Glu1564Gly)
c.4586A>G (p.Glu1529Gly)
c.4577A>G (p.Glu1526Gly)
c.4538A>G (p.Glu1513Gly)
c.4484A>G (p.Glu1495Gly)
c.4388A>G (p.Glu1463Gly)
c.4358A>G (p.Glu1453Gly)
c.4283A>G (p.Glu1428Gly)
c.4181A>G (p.Glu1394Gly)
c.3812A>G (p.Glu1271Gly)
 dbSNP
5g.112840255A>TCA16031550APCc.4715A>T (p.Glu1572Val)
c.*4667A>T (n.*4667A>T)
c.4607A>T (p.Glu1536Val)
c.4661A>T (p.Glu1554Val)
c.*3983A>T (n.*3983A>T)
c.230+11283A>T
c.4691A>T (p.Glu1564Val)
c.4586A>T (p.Glu1529Val)
c.4577A>T (p.Glu1526Val)
c.4538A>T (p.Glu1513Val)
c.4484A>T (p.Glu1495Val)
c.4388A>T (p.Glu1463Val)
c.4358A>T (p.Glu1453Val)
c.4283A>T (p.Glu1428Val)
c.4181A>T (p.Glu1394Val)
c.3812A>T (p.Glu1271Val)
 dbSNP
5g.112840260dupCA16021317APCc.4720dup (p.Thr1574AsnfsTer3)
c.*4672dup (n.*4672dup)
c.4612dup (p.Thr1538AsnfsTer3)
c.4666dup (p.Thr1556AsnfsTer3)
c.*3988dup (n.*3988dup)
c.230+11288dup
c.4696dup (p.Thr1566AsnfsTer3)
c.4591dup (p.Thr1531AsnfsTer3)
c.4582dup (p.Thr1528AsnfsTer3)
c.4543dup (p.Thr1515AsnfsTer3)
c.4489dup (p.Thr1497AsnfsTer3)
c.4393dup (p.Thr1465AsnfsTer3)
c.4363dup (p.Thr1455AsnfsTer3)
c.4288dup (p.Thr1430AsnfsTer3)
c.4186dup (p.Thr1396AsnfsTer3)
c.3817dup (p.Thr1273AsnfsTer3)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC
5g.112840260delCA009675APCc.4720del (p.Thr1574LeufsTer9)
c.*4672del (n.*4672del)
c.4612del (p.Thr1538LeufsTer9)
c.4666del (p.Thr1556LeufsTer9)
c.*3988del (n.*3988del)
c.230+11288del
c.4696del (p.Thr1566LeufsTer9)
c.4591del (p.Thr1531LeufsTer9)
c.4582del (p.Thr1528LeufsTer9)
c.4543del (p.Thr1515LeufsTer9)
c.4489del (p.Thr1497LeufsTer9)
c.4393del (p.Thr1465LeufsTer9)
c.4363del (p.Thr1455LeufsTer9)
c.4288del (p.Thr1430LeufsTer9)
c.4186del (p.Thr1396LeufsTer9)
c.3817del (p.Thr1273LeufsTer9)
 ClinVar dbSNP COSMIC COSMIC
5g.112840259_112840260delCA645543969APCc.4719_4720del (p.Lys1573AsnfsTer3)
c.*4671_*4672del (n.*4671_*4672del)
c.4611_4612del (p.Lys1537AsnfsTer3)
c.4665_4666del (p.Lys1555AsnfsTer3)
c.*3987_*3988del (n.*3987_*3988del)
c.230+11287_230+11288del
c.4695_4696del (p.Lys1565AsnfsTer3)
c.4590_4591del (p.Lys1530AsnfsTer3)
c.4581_4582del (p.Lys1527AsnfsTer3)
c.4542_4543del (p.Lys1514AsnfsTer3)
c.4488_4489del (p.Lys1496AsnfsTer3)
c.4392_4393del (p.Lys1464AsnfsTer3)
c.4362_4363del (p.Lys1454AsnfsTer3)
c.4287_4288del (p.Lys1429AsnfsTer3)
c.4185_4186del (p.Lys1395AsnfsTer3)
c.3816_3817del (p.Lys1272AsnfsTer3)
 COSMIC
5g.112840255_112840256insGCA446206654APCc.4715_4716insG (p.Thr1574AsnfsTer3)
c.*4667_*4668insG (n.*4667_*4668insG)
c.4607_4608insG (p.Thr1538AsnfsTer3)
c.4661_4662insG (p.Thr1556AsnfsTer3)
c.*3983_*3984insG (n.*3983_*3984insG)
c.230+11283_230+11284insG
c.4691_4692insG (p.Thr1566AsnfsTer3)
c.4586_4587insG (p.Thr1531AsnfsTer3)
c.4577_4578insG (p.Thr1528AsnfsTer3)
c.4538_4539insG (p.Thr1515AsnfsTer3)
c.4484_4485insG (p.Thr1497AsnfsTer3)
c.4388_4389insG (p.Thr1465AsnfsTer3)
c.4358_4359insG (p.Thr1455AsnfsTer3)
c.4283_4284insG (p.Thr1430AsnfsTer3)
c.4181_4182insG (p.Thr1396AsnfsTer3)
c.3812_3813insG (p.Thr1273AsnfsTer3)
5g.112840256A>CCA16031551APCc.4716A>C (p.Glu1572Asp)
c.*4668A>C (n.*4668A>C)
c.4608A>C (p.Glu1536Asp)
c.4662A>C (p.Glu1554Asp)
c.*3984A>C (n.*3984A>C)
c.230+11284A>C
c.4692A>C (p.Glu1564Asp)
c.4587A>C (p.Glu1529Asp)
c.4578A>C (p.Glu1526Asp)
c.4539A>C (p.Glu1513Asp)
c.4485A>C (p.Glu1495Asp)
c.4389A>C (p.Glu1463Asp)
c.4359A>C (p.Glu1453Asp)
c.4284A>C (p.Glu1428Asp)
c.4182A>C (p.Glu1394Asp)
c.3813A>C (p.Glu1271Asp)
5g.112840256A>GCA446206653APCc.4716A>G (p.Glu1572=)
c.*4668A>G (n.*4668A>G)
c.4608A>G (p.Glu1536=)
c.4662A>G (p.Glu1554=)
c.*3984A>G (n.*3984A>G)
c.230+11284A>G
c.4692A>G (p.Glu1564=)
c.4587A>G (p.Glu1529=)
c.4578A>G (p.Glu1526=)
c.4539A>G (p.Glu1513=)
c.4485A>G (p.Glu1495=)
c.4389A>G (p.Glu1463=)
c.4359A>G (p.Glu1453=)
c.4284A>G (p.Glu1428=)
c.4182A>G (p.Glu1394=)
c.3813A>G (p.Glu1271=)
 ClinVar
5g.112840256A>TCA16031552APCc.4716A>T (p.Glu1572Asp)
c.*4668A>T (n.*4668A>T)
c.4608A>T (p.Glu1536Asp)
c.4662A>T (p.Glu1554Asp)
c.*3984A>T (n.*3984A>T)
c.230+11284A>T
c.4692A>T (p.Glu1564Asp)
c.4587A>T (p.Glu1529Asp)
c.4578A>T (p.Glu1526Asp)
c.4539A>T (p.Glu1513Asp)
c.4485A>T (p.Glu1495Asp)
c.4389A>T (p.Glu1463Asp)
c.4359A>T (p.Glu1453Asp)
c.4284A>T (p.Glu1428Asp)
c.4182A>T (p.Glu1394Asp)
c.3813A>T (p.Glu1271Asp)
 dbSNP
5g.112840256_112840265delCA2582341335APCc.4716_4725del (p.Lys1573IlefsTer7)
c.*4668_*4677del (n.*4668_*4677del)
c.4608_4617del (p.Lys1537IlefsTer7)
c.4662_4671del (p.Lys1555IlefsTer7)
c.*3984_*3993del (n.*3984_*3993del)
c.230+11284_230+11293del
c.4692_4701del (p.Lys1565IlefsTer7)
c.4587_4596del (p.Lys1530IlefsTer7)
c.4578_4587del (p.Lys1527IlefsTer7)
c.4539_4548del (p.Lys1514IlefsTer7)
c.4485_4494del (p.Lys1496IlefsTer7)
c.4389_4398del (p.Lys1464IlefsTer7)
c.4359_4368del (p.Lys1454IlefsTer7)
c.4284_4293del (p.Lys1429IlefsTer7)
c.4182_4191del (p.Lys1395IlefsTer7)
c.3813_3822del (p.Lys1272IlefsTer7)
 ClinVar
5g.112840257A=CA1573470603APCc.4717A= (p.Lys1573=)
c.*4669A= (n.*4669A=)
c.4609A= (p.Lys1537=)
c.4663A= (p.Lys1555=)
c.*3985A= (n.*3985A=)
c.230+11285A=
c.4693A= (p.Lys1565=)
c.4588A= (p.Lys1530=)
c.4579A= (p.Lys1527=)
c.4540A= (p.Lys1514=)
c.4486A= (p.Lys1496=)
c.4390A= (p.Lys1464=)
c.4360A= (p.Lys1454=)
c.4285A= (p.Lys1429=)
c.4183A= (p.Lys1395=)
c.3814A= (p.Lys1272=)
5g.112840257A>CCA16031553APCc.4717A>C (p.Lys1573Gln)
c.*4669A>C (n.*4669A>C)
c.4609A>C (p.Lys1537Gln)
c.4663A>C (p.Lys1555Gln)
c.*3985A>C (n.*3985A>C)
c.230+11285A>C
c.4693A>C (p.Lys1565Gln)
c.4588A>C (p.Lys1530Gln)
c.4579A>C (p.Lys1527Gln)
c.4540A>C (p.Lys1514Gln)
c.4486A>C (p.Lys1496Gln)
c.4390A>C (p.Lys1464Gln)
c.4360A>C (p.Lys1454Gln)
c.4285A>C (p.Lys1429Gln)
c.4183A>C (p.Lys1395Gln)
c.3814A>C (p.Lys1272Gln)
5g.112840257A>GCA16031554APCc.4717A>G (p.Lys1573Glu)
c.*4669A>G (n.*4669A>G)
c.4609A>G (p.Lys1537Glu)
c.4663A>G (p.Lys1555Glu)
c.*3985A>G (n.*3985A>G)
c.230+11285A>G
c.4693A>G (p.Lys1565Glu)
c.4588A>G (p.Lys1530Glu)
c.4579A>G (p.Lys1527Glu)
c.4540A>G (p.Lys1514Glu)
c.4486A>G (p.Lys1496Glu)
c.4390A>G (p.Lys1464Glu)
c.4360A>G (p.Lys1454Glu)
c.4285A>G (p.Lys1429Glu)
c.4183A>G (p.Lys1395Glu)
c.3814A>G (p.Lys1272Glu)
 ClinVar dbSNP
5g.112840257A>TCA16031555APCc.4717A>T (p.Lys1573Ter)
c.*4669A>T (n.*4669A>T)
c.4609A>T (p.Lys1537Ter)
c.4663A>T (p.Lys1555Ter)
c.*3985A>T (n.*3985A>T)
c.230+11285A>T
c.4693A>T (p.Lys1565Ter)
c.4588A>T (p.Lys1530Ter)
c.4579A>T (p.Lys1527Ter)
c.4540A>T (p.Lys1514Ter)
c.4486A>T (p.Lys1496Ter)
c.4390A>T (p.Lys1464Ter)
c.4360A>T (p.Lys1454Ter)
c.4285A>T (p.Lys1429Ter)
c.4183A>T (p.Lys1395Ter)
c.3814A>T (p.Lys1272Ter)
 dbSNP
5g.112840258A>CCA16031556APCc.4718A>C (p.Lys1573Thr)
c.*4670A>C (n.*4670A>C)
c.4610A>C (p.Lys1537Thr)
c.4664A>C (p.Lys1555Thr)
c.*3986A>C (n.*3986A>C)
c.230+11286A>C
c.4694A>C (p.Lys1565Thr)
c.4589A>C (p.Lys1530Thr)
c.4580A>C (p.Lys1527Thr)
c.4541A>C (p.Lys1514Thr)
c.4487A>C (p.Lys1496Thr)
c.4391A>C (p.Lys1464Thr)
c.4361A>C (p.Lys1454Thr)
c.4286A>C (p.Lys1429Thr)
c.4184A>C (p.Lys1395Thr)
c.3815A>C (p.Lys1272Thr)
 dbSNP
5g.112840258A>GCA16031557APCc.4718A>G (p.Lys1573Arg)
c.*4670A>G (n.*4670A>G)
c.4610A>G (p.Lys1537Arg)
c.4664A>G (p.Lys1555Arg)
c.*3986A>G (n.*3986A>G)
c.230+11286A>G
c.4694A>G (p.Lys1565Arg)
c.4589A>G (p.Lys1530Arg)
c.4580A>G (p.Lys1527Arg)
c.4541A>G (p.Lys1514Arg)
c.4487A>G (p.Lys1496Arg)
c.4391A>G (p.Lys1464Arg)
c.4361A>G (p.Lys1454Arg)
c.4286A>G (p.Lys1429Arg)
c.4184A>G (p.Lys1395Arg)
c.3815A>G (p.Lys1272Arg)
5g.112840258A>TCA16031558APCc.4718A>T (p.Lys1573Ile)
c.*4670A>T (n.*4670A>T)
c.4610A>T (p.Lys1537Ile)
c.4664A>T (p.Lys1555Ile)
c.*3986A>T (n.*3986A>T)
c.230+11286A>T
c.4694A>T (p.Lys1565Ile)
c.4589A>T (p.Lys1530Ile)
c.4580A>T (p.Lys1527Ile)
c.4541A>T (p.Lys1514Ile)
c.4487A>T (p.Lys1496Ile)
c.4391A>T (p.Lys1464Ile)
c.4361A>T (p.Lys1454Ile)
c.4286A>T (p.Lys1429Ile)
c.4184A>T (p.Lys1395Ile)
c.3815A>T (p.Lys1272Ile)
 dbSNP
5g.112840259A=CA1573470611APCc.4719A= (p.Lys1573=)
c.*4671A= (n.*4671A=)
c.4611A= (p.Lys1537=)
c.4665A= (p.Lys1555=)
c.*3987A= (n.*3987A=)
c.230+11287A=
c.4695A= (p.Lys1565=)
c.4590A= (p.Lys1530=)
c.4581A= (p.Lys1527=)
c.4542A= (p.Lys1514=)
c.4488A= (p.Lys1496=)
c.4392A= (p.Lys1464=)
c.4362A= (p.Lys1454=)
c.4287A= (p.Lys1429=)
c.4185A= (p.Lys1395=)
c.3816A= (p.Lys1272=)
5g.112840259A>CCA16031559APCc.4719A>C (p.Lys1573Asn)
c.*4671A>C (n.*4671A>C)
c.4611A>C (p.Lys1537Asn)
c.4665A>C (p.Lys1555Asn)
c.*3987A>C (n.*3987A>C)
c.230+11287A>C
c.4695A>C (p.Lys1565Asn)
c.4590A>C (p.Lys1530Asn)
c.4581A>C (p.Lys1527Asn)
c.4542A>C (p.Lys1514Asn)
c.4488A>C (p.Lys1496Asn)
c.4392A>C (p.Lys1464Asn)
c.4362A>C (p.Lys1454Asn)
c.4287A>C (p.Lys1429Asn)
c.4185A>C (p.Lys1395Asn)
c.3816A>C (p.Lys1272Asn)
5g.112840259A>GCA446206655APCc.4719A>G (p.Lys1573=)
c.*4671A>G (n.*4671A>G)
c.4611A>G (p.Lys1537=)
c.4665A>G (p.Lys1555=)
c.*3987A>G (n.*3987A>G)
c.230+11287A>G
c.4695A>G (p.Lys1565=)
c.4590A>G (p.Lys1530=)
c.4581A>G (p.Lys1527=)
c.4542A>G (p.Lys1514=)
c.4488A>G (p.Lys1496=)
c.4392A>G (p.Lys1464=)
c.4362A>G (p.Lys1454=)
c.4287A>G (p.Lys1429=)
c.4185A>G (p.Lys1395=)
c.3816A>G (p.Lys1272=)
 ClinVar dbSNP
5g.112840259A>TCA16031560APCc.4719A>T (p.Lys1573Asn)
c.*4671A>T (n.*4671A>T)
c.4611A>T (p.Lys1537Asn)
c.4665A>T (p.Lys1555Asn)
c.*3987A>T (n.*3987A>T)
c.230+11287A>T
c.4695A>T (p.Lys1565Asn)
c.4590A>T (p.Lys1530Asn)
c.4581A>T (p.Lys1527Asn)
c.4542A>T (p.Lys1514Asn)
c.4488A>T (p.Lys1496Asn)
c.4392A>T (p.Lys1464Asn)
c.4362A>T (p.Lys1454Asn)
c.4287A>T (p.Lys1429Asn)
c.4185A>T (p.Lys1395Asn)
c.3816A>T (p.Lys1272Asn)
 dbSNP
5g.112840259_112840261delCA2580613636APCc.4719_4721del (p.Lys1573_Thr1574delinsAsn)
c.*4671_*4673del (n.*4671_*4673del)
c.4611_4613del (p.Lys1537_Thr1538delinsAsn)
c.4665_4667del (p.Lys1555_Thr1556delinsAsn)
c.*3987_*3989del (n.*3987_*3989del)
c.230+11287_230+11289del
c.4695_4697del (p.Lys1565_Thr1566delinsAsn)
c.4590_4592del (p.Lys1530_Thr1531delinsAsn)
c.4581_4583del (p.Lys1527_Thr1528delinsAsn)
c.4542_4544del (p.Lys1514_Thr1515delinsAsn)
c.4488_4490del (p.Lys1496_Thr1497delinsAsn)
c.4392_4394del (p.Lys1464_Thr1465delinsAsn)
c.4362_4364del (p.Lys1454_Thr1455delinsAsn)
c.4287_4289del (p.Lys1429_Thr1430delinsAsn)
c.4185_4187del (p.Lys1395_Thr1396delinsAsn)
c.3816_3818del (p.Lys1272_Thr1273delinsAsn)
 ClinVar
5g.112840260A=CA1573470627APCc.4720A= (p.Thr1574=)
c.*4672A= (n.*4672A=)
c.4612A= (p.Thr1538=)
c.4666A= (p.Thr1556=)
c.*3988A= (n.*3988A=)
c.230+11288A=
c.4696A= (p.Thr1566=)
c.4591A= (p.Thr1531=)
c.4582A= (p.Thr1528=)
c.4543A= (p.Thr1515=)
c.4489A= (p.Thr1497=)
c.4393A= (p.Thr1465=)
c.4363A= (p.Thr1455=)
c.4288A= (p.Thr1430=)
c.4186A= (p.Thr1396=)
c.3817A= (p.Thr1273=)
5g.112840260A>CCA16031561APCc.4720A>C (p.Thr1574Pro)
c.*4672A>C (n.*4672A>C)
c.4612A>C (p.Thr1538Pro)
c.4666A>C (p.Thr1556Pro)
c.*3988A>C (n.*3988A>C)
c.230+11288A>C
c.4696A>C (p.Thr1566Pro)
c.4591A>C (p.Thr1531Pro)
c.4582A>C (p.Thr1528Pro)
c.4543A>C (p.Thr1515Pro)
c.4489A>C (p.Thr1497Pro)
c.4393A>C (p.Thr1465Pro)
c.4363A>C (p.Thr1455Pro)
c.4288A>C (p.Thr1430Pro)
c.4186A>C (p.Thr1396Pro)
c.3817A>C (p.Thr1273Pro)
 dbSNP
5g.112840260A>GCA16031562APCc.4720A>G (p.Thr1574Ala)
c.*4672A>G (n.*4672A>G)
c.4612A>G (p.Thr1538Ala)
c.4666A>G (p.Thr1556Ala)
c.*3988A>G (n.*3988A>G)
c.230+11288A>G
c.4696A>G (p.Thr1566Ala)
c.4591A>G (p.Thr1531Ala)
c.4582A>G (p.Thr1528Ala)
c.4543A>G (p.Thr1515Ala)
c.4489A>G (p.Thr1497Ala)
c.4393A>G (p.Thr1465Ala)
c.4363A>G (p.Thr1455Ala)
c.4288A>G (p.Thr1430Ala)
c.4186A>G (p.Thr1396Ala)
c.3817A>G (p.Thr1273Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840260A>TCA16031563APCc.4720A>T (p.Thr1574Ser)
c.*4672A>T (n.*4672A>T)
c.4612A>T (p.Thr1538Ser)
c.4666A>T (p.Thr1556Ser)
c.*3988A>T (n.*3988A>T)
c.230+11288A>T
c.4696A>T (p.Thr1566Ser)
c.4591A>T (p.Thr1531Ser)
c.4582A>T (p.Thr1528Ser)
c.4543A>T (p.Thr1515Ser)
c.4489A>T (p.Thr1497Ser)
c.4393A>T (p.Thr1465Ser)
c.4363A>T (p.Thr1455Ser)
c.4288A>T (p.Thr1430Ser)
c.4186A>T (p.Thr1396Ser)
c.3817A>T (p.Thr1273Ser)
 ClinVar dbSNP gnomAD v4
5g.112840260_112840261delinsTCA2695205301APCc.4720_4721delinsT (p.Thr1574LeufsTer9)
c.*4672_*4673delinsT (n.*4672_*4673delinsT)
c.4612_4613delinsT (p.Thr1538LeufsTer9)
c.4666_4667delinsT (p.Thr1556LeufsTer9)
c.*3988_*3989delinsT (n.*3988_*3989delinsT)
c.230+11288_230+11289delinsT
c.4696_4697delinsT (p.Thr1566LeufsTer9)
c.4591_4592delinsT (p.Thr1531LeufsTer9)
c.4582_4583delinsT (p.Thr1528LeufsTer9)
c.4543_4544delinsT (p.Thr1515LeufsTer9)
c.4489_4490delinsT (p.Thr1497LeufsTer9)
c.4393_4394delinsT (p.Thr1465LeufsTer9)
c.4363_4364delinsT (p.Thr1455LeufsTer9)
c.4288_4289delinsT (p.Thr1430LeufsTer9)
c.4186_4187delinsT (p.Thr1396LeufsTer9)
c.3817_3818delinsT (p.Thr1273LeufsTer9)
5g.112840261delCA2695205302APCc.4721del (p.Thr1574IlefsTer9)
c.*4673del (n.*4673del)
c.4613del (p.Thr1538IlefsTer9)
c.4667del (p.Thr1556IlefsTer9)
c.*3989del (n.*3989del)
c.230+11289del
c.4697del (p.Thr1566IlefsTer9)
c.4592del (p.Thr1531IlefsTer9)
c.4583del (p.Thr1528IlefsTer9)
c.4544del (p.Thr1515IlefsTer9)
c.4490del (p.Thr1497IlefsTer9)
c.4394del (p.Thr1465IlefsTer9)
c.4364del (p.Thr1455IlefsTer9)
c.4289del (p.Thr1430IlefsTer9)
c.4187del (p.Thr1396IlefsTer9)
c.3818del (p.Thr1273IlefsTer9)
 ClinVar
5g.112840261C>ACA039528APCc.4721C>A (p.Thr1574Asn)
c.*4673C>A (n.*4673C>A)
c.4613C>A (p.Thr1538Asn)
c.4667C>A (p.Thr1556Asn)
c.*3989C>A (n.*3989C>A)
c.230+11289C>A
c.4697C>A (p.Thr1566Asn)
c.4592C>A (p.Thr1531Asn)
c.4583C>A (p.Thr1528Asn)
c.4544C>A (p.Thr1515Asn)
c.4490C>A (p.Thr1497Asn)
c.4394C>A (p.Thr1465Asn)
c.4364C>A (p.Thr1455Asn)
c.4289C>A (p.Thr1430Asn)
c.4187C>A (p.Thr1396Asn)
c.3818C>A (p.Thr1273Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840261C=CA1573470653APCc.4721C= (p.Thr1574=)
c.*4673C= (n.*4673C=)
c.4613C= (p.Thr1538=)
c.4667C= (p.Thr1556=)
c.*3989C= (n.*3989C=)
c.230+11289C=
c.4697C= (p.Thr1566=)
c.4592C= (p.Thr1531=)
c.4583C= (p.Thr1528=)
c.4544C= (p.Thr1515=)
c.4490C= (p.Thr1497=)
c.4394C= (p.Thr1465=)
c.4364C= (p.Thr1455=)
c.4289C= (p.Thr1430=)
c.4187C= (p.Thr1396=)
c.3818C= (p.Thr1273=)
5g.112840261C>GCA16031564APCc.4721C>G (p.Thr1574Ser)
c.*4673C>G (n.*4673C>G)
c.4613C>G (p.Thr1538Ser)
c.4667C>G (p.Thr1556Ser)
c.*3989C>G (n.*3989C>G)
c.230+11289C>G
c.4697C>G (p.Thr1566Ser)
c.4592C>G (p.Thr1531Ser)
c.4583C>G (p.Thr1528Ser)
c.4544C>G (p.Thr1515Ser)
c.4490C>G (p.Thr1497Ser)
c.4394C>G (p.Thr1465Ser)
c.4364C>G (p.Thr1455Ser)
c.4289C>G (p.Thr1430Ser)
c.4187C>G (p.Thr1396Ser)
c.3818C>G (p.Thr1273Ser)
 ClinVar dbSNP
5g.112840261C>TCA16031565APCc.4721C>T (p.Thr1574Ile)
c.*4673C>T (n.*4673C>T)
c.4613C>T (p.Thr1538Ile)
c.4667C>T (p.Thr1556Ile)
c.*3989C>T (n.*3989C>T)
c.230+11289C>T
c.4697C>T (p.Thr1566Ile)
c.4592C>T (p.Thr1531Ile)
c.4583C>T (p.Thr1528Ile)
c.4544C>T (p.Thr1515Ile)
c.4490C>T (p.Thr1497Ile)
c.4394C>T (p.Thr1465Ile)
c.4364C>T (p.Thr1455Ile)
c.4289C>T (p.Thr1430Ile)
c.4187C>T (p.Thr1396Ile)
c.3818C>T (p.Thr1273Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840261dupCA645543970APCc.4721dup (p.Ile1575TyrfsTer2)
c.*4673dup (n.*4673dup)
c.4613dup (p.Ile1539TyrfsTer2)
c.4667dup (p.Ile1557TyrfsTer2)
c.*3989dup (n.*3989dup)
c.230+11289dup
c.4697dup (p.Ile1567TyrfsTer2)
c.4592dup (p.Ile1532TyrfsTer2)
c.4583dup (p.Ile1529TyrfsTer2)
c.4544dup (p.Ile1516TyrfsTer2)
c.4490dup (p.Ile1498TyrfsTer2)
c.4394dup (p.Ile1466TyrfsTer2)
c.4364dup (p.Ile1456TyrfsTer2)
c.4289dup (p.Ile1431TyrfsTer2)
c.4187dup (p.Ile1397TyrfsTer2)
c.3818dup (p.Ile1274TyrfsTer2)
 COSMIC
5g.112840261_112840263delinsCTACA1573470638APCc.4721_4723delinsCTA (p.Thr1574=)
c.*4673_*4675delinsCTA (n.*4673_*4675delinsCTA)
c.4613_4615delinsCTA (p.Thr1538=)
c.4667_4669delinsCTA (p.Thr1556=)
c.*3989_*3991delinsCTA (n.*3989_*3991delinsCTA)
c.230+11289_230+11291delinsCTA
c.4697_4699delinsCTA (p.Thr1566=)
c.4592_4594delinsCTA (p.Thr1531=)
c.4583_4585delinsCTA (p.Thr1528=)
c.4544_4546delinsCTA (p.Thr1515=)
c.4490_4492delinsCTA (p.Thr1497=)
c.4394_4396delinsCTA (p.Thr1465=)
c.4364_4366delinsCTA (p.Thr1455=)
c.4289_4291delinsCTA (p.Thr1430=)
c.4187_4189delinsCTA (p.Thr1396=)
c.3818_3820delinsCTA (p.Thr1273=)
5g.112840261_112840262insACA446206656APCc.4721_4722insA (p.Ile1575TyrfsTer2)
c.*4673_*4674insA (n.*4673_*4674insA)
c.4613_4614insA (p.Ile1539TyrfsTer2)
c.4667_4668insA (p.Ile1557TyrfsTer2)
c.*3989_*3990insA (n.*3989_*3990insA)
c.230+11289_230+11290insA
c.4697_4698insA (p.Ile1567TyrfsTer2)
c.4592_4593insA (p.Ile1532TyrfsTer2)
c.4583_4584insA (p.Ile1529TyrfsTer2)
c.4544_4545insA (p.Ile1516TyrfsTer2)
c.4490_4491insA (p.Ile1498TyrfsTer2)
c.4394_4395insA (p.Ile1466TyrfsTer2)
c.4364_4365insA (p.Ile1456TyrfsTer2)
c.4289_4290insA (p.Ile1431TyrfsTer2)
c.4187_4188insA (p.Ile1397TyrfsTer2)
c.3818_3819insA (p.Ile1274TyrfsTer2)
 COSMIC
5g.112840262delCA658760772APCc.4722del (p.Ile1575LeufsTer8)
c.*4674del (n.*4674del)
c.4614del (p.Ile1539LeufsTer8)
c.4668del (p.Ile1557LeufsTer8)
c.*3990del (n.*3990del)
c.230+11290del
c.4698del (p.Ile1567LeufsTer8)
c.4593del (p.Ile1532LeufsTer8)
c.4584del (p.Ile1529LeufsTer8)
c.4545del (p.Ile1516LeufsTer8)
c.4491del (p.Ile1498LeufsTer8)
c.4395del (p.Ile1466LeufsTer8)
c.4365del (p.Ile1456LeufsTer8)
c.4290del (p.Ile1431LeufsTer8)
c.4188del (p.Ile1397LeufsTer8)
c.3819del (p.Ile1274LeufsTer8)
5g.112840262T>ACA446206657APCc.4722T>A (p.Thr1574=)
c.*4674T>A (n.*4674T>A)
c.4614T>A (p.Thr1538=)
c.4668T>A (p.Thr1556=)
c.*3990T>A (n.*3990T>A)
c.230+11290T>A
c.4698T>A (p.Thr1566=)
c.4593T>A (p.Thr1531=)
c.4584T>A (p.Thr1528=)
c.4545T>A (p.Thr1515=)
c.4491T>A (p.Thr1497=)
c.4395T>A (p.Thr1465=)
c.4365T>A (p.Thr1455=)
c.4290T>A (p.Thr1430=)
c.4188T>A (p.Thr1396=)
c.3819T>A (p.Thr1273=)
 dbSNP
5g.112840262T>CCA446206658APCc.4722T>C (p.Thr1574=)
c.*4674T>C (n.*4674T>C)
c.4614T>C (p.Thr1538=)
c.4668T>C (p.Thr1556=)
c.*3990T>C (n.*3990T>C)
c.230+11290T>C
c.4698T>C (p.Thr1566=)
c.4593T>C (p.Thr1531=)
c.4584T>C (p.Thr1528=)
c.4545T>C (p.Thr1515=)
c.4491T>C (p.Thr1497=)
c.4395T>C (p.Thr1465=)
c.4365T>C (p.Thr1455=)
c.4290T>C (p.Thr1430=)
c.4188T>C (p.Thr1396=)
c.3819T>C (p.Thr1273=)
 ClinVar dbSNP
5g.112840262T>GCA446206659APCc.4722T>G (p.Thr1574=)
c.*4674T>G (n.*4674T>G)
c.4614T>G (p.Thr1538=)
c.4668T>G (p.Thr1556=)
c.*3990T>G (n.*3990T>G)
c.230+11290T>G
c.4698T>G (p.Thr1566=)
c.4593T>G (p.Thr1531=)
c.4584T>G (p.Thr1528=)
c.4545T>G (p.Thr1515=)
c.4491T>G (p.Thr1497=)
c.4395T>G (p.Thr1465=)
c.4365T>G (p.Thr1455=)
c.4290T>G (p.Thr1430=)
c.4188T>G (p.Thr1396=)
c.3819T>G (p.Thr1273=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840262T=CA1573470667APCc.4722T= (p.Thr1574=)
c.*4674T= (n.*4674T=)
c.4614T= (p.Thr1538=)
c.4668T= (p.Thr1556=)
c.*3990T= (n.*3990T=)
c.230+11290T=
c.4698T= (p.Thr1566=)
c.4593T= (p.Thr1531=)
c.4584T= (p.Thr1528=)
c.4545T= (p.Thr1515=)
c.4491T= (p.Thr1497=)
c.4395T= (p.Thr1465=)
c.4365T= (p.Thr1455=)
c.4290T= (p.Thr1430=)
c.4188T= (p.Thr1396=)
c.3819T= (p.Thr1273=)
5g.112840262dupCA658760771APCc.4722dup (p.Ile1575TyrfsTer2)
c.*4674dup (n.*4674dup)
c.4614dup (p.Ile1539TyrfsTer2)
c.4668dup (p.Ile1557TyrfsTer2)
c.*3990dup (n.*3990dup)
c.230+11290dup
c.4698dup (p.Ile1567TyrfsTer2)
c.4593dup (p.Ile1532TyrfsTer2)
c.4584dup (p.Ile1529TyrfsTer2)
c.4545dup (p.Ile1516TyrfsTer2)
c.4491dup (p.Ile1498TyrfsTer2)
c.4395dup (p.Ile1466TyrfsTer2)
c.4365dup (p.Ile1456TyrfsTer2)
c.4290dup (p.Ile1431TyrfsTer2)
c.4188dup (p.Ile1397TyrfsTer2)
c.3819dup (p.Ile1274TyrfsTer2)
5g.112840263_112840264delCA009682APCc.4723_4724del (p.Ile1575Ter)
c.*4675_*4676del (n.*4675_*4676del)
c.4615_4616del (p.Ile1539Ter)
c.4669_4670del (p.Ile1557Ter)
c.*3991_*3992del (n.*3991_*3992del)
c.230+11291_230+11292del
c.4699_4700del (p.Ile1567Ter)
c.4594_4595del (p.Ile1532Ter)
c.4585_4586del (p.Ile1529Ter)
c.4546_4547del (p.Ile1516Ter)
c.4492_4493del (p.Ile1498Ter)
c.4396_4397del (p.Ile1466Ter)
c.4366_4367del (p.Ile1456Ter)
c.4291_4292del (p.Ile1431Ter)
c.4189_4190del (p.Ile1397Ter)
c.3820_3821del (p.Ile1274Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.112840262_112840270delinsTATTGATTCCA1573470665APCc.4722_4730delinsTATTGATTC (p.Thr1574=)
c.*4674_*4682delinsTATTGATTC (n.*4674_*4682delinsTATTGATTC)
c.4614_4622delinsTATTGATTC (p.Thr1538=)
c.4668_4676delinsTATTGATTC (p.Thr1556=)
c.*3990_*3998delinsTATTGATTC (n.*3990_*3998delinsTATTGATTC)
c.230+11290_230+11298delinsTATTGATTC
c.4698_4706delinsTATTGATTC (p.Thr1566=)
c.4593_4601delinsTATTGATTC (p.Thr1531=)
c.4584_4592delinsTATTGATTC (p.Thr1528=)
c.4545_4553delinsTATTGATTC (p.Thr1515=)
c.4491_4499delinsTATTGATTC (p.Thr1497=)
c.4395_4403delinsTATTGATTC (p.Thr1465=)
c.4365_4373delinsTATTGATTC (p.Thr1455=)
c.4290_4298delinsTATTGATTC (p.Thr1430=)
c.4188_4196delinsTATTGATTC (p.Thr1396=)
c.3819_3827delinsTATTGATTC (p.Thr1273=)
5g.112840262_112840263insCCA446206661APCc.4722_4723insC (p.Ile1575HisfsTer2)
c.*4674_*4675insC (n.*4674_*4675insC)
c.4614_4615insC (p.Ile1539HisfsTer2)
c.4668_4669insC (p.Ile1557HisfsTer2)
c.*3990_*3991insC (n.*3990_*3991insC)
c.230+11290_230+11291insC
c.4698_4699insC (p.Ile1567HisfsTer2)
c.4593_4594insC (p.Ile1532HisfsTer2)
c.4584_4585insC (p.Ile1529HisfsTer2)
c.4545_4546insC (p.Ile1516HisfsTer2)
c.4491_4492insC (p.Ile1498HisfsTer2)
c.4395_4396insC (p.Ile1466HisfsTer2)
c.4365_4366insC (p.Ile1456HisfsTer2)
c.4290_4291insC (p.Ile1431HisfsTer2)
c.4188_4189insC (p.Ile1397HisfsTer2)
c.3819_3820insC (p.Ile1274HisfsTer2)
5g.112840262_112840263insCTTTCTCTTGGTTTTCCA1573470688APCc.4722_4723insCTTTCTCTTGGTTTTC (p.Ile1575LeufsTer7)
c.*4674_*4675insCTTTCTCTTGGTTTTC (n.*4674_*4675insCTTTCTCTTGGTTTTC)
c.4614_4615insCTTTCTCTTGGTTTTC (p.Ile1539LeufsTer7)
c.4668_4669insCTTTCTCTTGGTTTTC (p.Ile1557LeufsTer7)
c.*3990_*3991insCTTTCTCTTGGTTTTC (n.*3990_*3991insCTTTCTCTTGGTTTTC)
c.230+11290_230+11291insCTTTCTCTTGGTTTTC
c.4698_4699insCTTTCTCTTGGTTTTC (p.Ile1567LeufsTer7)
c.4593_4594insCTTTCTCTTGGTTTTC (p.Ile1532LeufsTer7)
c.4584_4585insCTTTCTCTTGGTTTTC (p.Ile1529LeufsTer7)
c.4545_4546insCTTTCTCTTGGTTTTC (p.Ile1516LeufsTer7)
c.4491_4492insCTTTCTCTTGGTTTTC (p.Ile1498LeufsTer7)
c.4395_4396insCTTTCTCTTGGTTTTC (p.Ile1466LeufsTer7)
c.4365_4366insCTTTCTCTTGGTTTTC (p.Ile1456LeufsTer7)
c.4290_4291insCTTTCTCTTGGTTTTC (p.Ile1431LeufsTer7)
c.4188_4189insCTTTCTCTTGGTTTTC (p.Ile1397LeufsTer7)
c.3819_3820insCTTTCTCTTGGTTTTC (p.Ile1274LeufsTer7)
 dbSNP
5g.112840263A=CA1573470692APCc.4723A= (p.Ile1575=)
c.*4675A= (n.*4675A=)
c.4615A= (p.Ile1539=)
c.4669A= (p.Ile1557=)
c.*3991A= (n.*3991A=)
c.230+11291A=
c.4699A= (p.Ile1567=)
c.4594A= (p.Ile1532=)
c.4585A= (p.Ile1529=)
c.4546A= (p.Ile1516=)
c.4492A= (p.Ile1498=)
c.4396A= (p.Ile1466=)
c.4366A= (p.Ile1456=)
c.4291A= (p.Ile1431=)
c.4189A= (p.Ile1397=)
c.3820A= (p.Ile1274=)
5g.112840263A>CCA16031566APCc.4723A>C (p.Ile1575Leu)
c.*4675A>C (n.*4675A>C)
c.4615A>C (p.Ile1539Leu)
c.4669A>C (p.Ile1557Leu)
c.*3991A>C (n.*3991A>C)
c.230+11291A>C
c.4699A>C (p.Ile1567Leu)
c.4594A>C (p.Ile1532Leu)
c.4585A>C (p.Ile1529Leu)
c.4546A>C (p.Ile1516Leu)
c.4492A>C (p.Ile1498Leu)
c.4396A>C (p.Ile1466Leu)
c.4366A>C (p.Ile1456Leu)
c.4291A>C (p.Ile1431Leu)
c.4189A>C (p.Ile1397Leu)
c.3820A>C (p.Ile1274Leu)
 ClinVar
5g.112840263A>GCA039538APCc.4723A>G (p.Ile1575Val)
c.*4675A>G (n.*4675A>G)
c.4615A>G (p.Ile1539Val)
c.4669A>G (p.Ile1557Val)
c.*3991A>G (n.*3991A>G)
c.230+11291A>G
c.4699A>G (p.Ile1567Val)
c.4594A>G (p.Ile1532Val)
c.4585A>G (p.Ile1529Val)
c.4546A>G (p.Ile1516Val)
c.4492A>G (p.Ile1498Val)
c.4396A>G (p.Ile1466Val)
c.4366A>G (p.Ile1456Val)
c.4291A>G (p.Ile1431Val)
c.4189A>G (p.Ile1397Val)
c.3820A>G (p.Ile1274Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112840263A>TCA16031567APCc.4723A>T (p.Ile1575Phe)
c.*4675A>T (n.*4675A>T)
c.4615A>T (p.Ile1539Phe)
c.4669A>T (p.Ile1557Phe)
c.*3991A>T (n.*3991A>T)
c.230+11291A>T
c.4699A>T (p.Ile1567Phe)
c.4594A>T (p.Ile1532Phe)
c.4585A>T (p.Ile1529Phe)
c.4546A>T (p.Ile1516Phe)
c.4492A>T (p.Ile1498Phe)
c.4396A>T (p.Ile1466Phe)
c.4366A>T (p.Ile1456Phe)
c.4291A>T (p.Ile1431Phe)
c.4189A>T (p.Ile1397Phe)
c.3820A>T (p.Ile1274Phe)
 ClinVar dbSNP
5g.112840263dupCA446206660APCc.4723dup (p.Ile1575AsnfsTer2)
c.*4675dup (n.*4675dup)
c.4615dup (p.Ile1539AsnfsTer2)
c.4669dup (p.Ile1557AsnfsTer2)
c.*3991dup (n.*3991dup)
c.230+11291dup
c.4699dup (p.Ile1567AsnfsTer2)
c.4594dup (p.Ile1532AsnfsTer2)
c.4585dup (p.Ile1529AsnfsTer2)
c.4546dup (p.Ile1516AsnfsTer2)
c.4492dup (p.Ile1498AsnfsTer2)
c.4396dup (p.Ile1466AsnfsTer2)
c.4366dup (p.Ile1456AsnfsTer2)
c.4291dup (p.Ile1431AsnfsTer2)
c.4189dup (p.Ile1397AsnfsTer2)
c.3820dup (p.Ile1274AsnfsTer2)
 COSMIC
5g.112840263_112840264delinsATCA1573470694APCc.4723_4724delinsAT (p.Ile1575=)
c.*4675_*4676delinsAT (n.*4675_*4676delinsAT)
c.4615_4616delinsAT (p.Ile1539=)
c.4669_4670delinsAT (p.Ile1557=)
c.*3991_*3992delinsAT (n.*3991_*3992delinsAT)
c.230+11291_230+11292delinsAT
c.4699_4700delinsAT (p.Ile1567=)
c.4594_4595delinsAT (p.Ile1532=)
c.4585_4586delinsAT (p.Ile1529=)
c.4546_4547delinsAT (p.Ile1516=)
c.4492_4493delinsAT (p.Ile1498=)
c.4396_4397delinsAT (p.Ile1466=)
c.4366_4367delinsAT (p.Ile1456=)
c.4291_4292delinsAT (p.Ile1431=)
c.4189_4190delinsAT (p.Ile1397=)
c.3820_3821delinsAT (p.Ile1274=)
5g.112840263_112840265delinsATTCA1573470693APCc.4723_4725delinsATT (p.Ile1575=)
c.*4675_*4677delinsATT (n.*4675_*4677delinsATT)
c.4615_4617delinsATT (p.Ile1539=)
c.4669_4671delinsATT (p.Ile1557=)
c.*3991_*3993delinsATT (n.*3991_*3993delinsATT)
c.230+11291_230+11293delinsATT
c.4699_4701delinsATT (p.Ile1567=)
c.4594_4596delinsATT (p.Ile1532=)
c.4585_4587delinsATT (p.Ile1529=)
c.4546_4548delinsATT (p.Ile1516=)
c.4492_4494delinsATT (p.Ile1498=)
c.4396_4398delinsATT (p.Ile1466=)
c.4366_4368delinsATT (p.Ile1456=)
c.4291_4293delinsATT (p.Ile1431=)
c.4189_4191delinsATT (p.Ile1397=)
c.3820_3822delinsATT (p.Ile1274=)
5g.112840263_112840270delCA16602715APCc.4723_4730del (p.Ile1575Ter)
c.*4675_*4682del (n.*4675_*4682del)
c.4615_4622del (p.Ile1539Ter)
c.4669_4676del (p.Ile1557Ter)
c.*3991_*3998del (n.*3991_*3998del)
c.230+11291_230+11298del
c.4699_4706del (p.Ile1567Ter)
c.4594_4601del (p.Ile1532Ter)
c.4585_4592del (p.Ile1529Ter)
c.4546_4553del (p.Ile1516Ter)
c.4492_4499del (p.Ile1498Ter)
c.4396_4403del (p.Ile1466Ter)
c.4366_4373del (p.Ile1456Ter)
c.4291_4298del (p.Ile1431Ter)
c.4189_4196del (p.Ile1397Ter)
c.3820_3827del (p.Ile1274Ter)
 ClinVar dbSNP

Number of alleles fetched