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.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.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.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.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
5g.112840264T>ACA16031568APCc.4724T>A (p.Ile1575Asn)
c.*4676T>A (n.*4676T>A)
c.4616T>A (p.Ile1539Asn)
c.4670T>A (p.Ile1557Asn)
c.*3992T>A (n.*3992T>A)
c.230+11292T>A
c.4700T>A (p.Ile1567Asn)
c.4595T>A (p.Ile1532Asn)
c.4586T>A (p.Ile1529Asn)
c.4547T>A (p.Ile1516Asn)
c.4493T>A (p.Ile1498Asn)
c.4397T>A (p.Ile1466Asn)
c.4367T>A (p.Ile1456Asn)
c.4292T>A (p.Ile1431Asn)
c.4190T>A (p.Ile1397Asn)
c.3821T>A (p.Ile1274Asn)
 ClinVar dbSNP
5g.112840264T>CCA039552APCc.4724T>C (p.Ile1575Thr)
c.*4676T>C (n.*4676T>C)
c.4616T>C (p.Ile1539Thr)
c.4670T>C (p.Ile1557Thr)
c.*3992T>C (n.*3992T>C)
c.230+11292T>C
c.4700T>C (p.Ile1567Thr)
c.4595T>C (p.Ile1532Thr)
c.4586T>C (p.Ile1529Thr)
c.4547T>C (p.Ile1516Thr)
c.4493T>C (p.Ile1498Thr)
c.4397T>C (p.Ile1466Thr)
c.4367T>C (p.Ile1456Thr)
c.4292T>C (p.Ile1431Thr)
c.4190T>C (p.Ile1397Thr)
c.3821T>C (p.Ile1274Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840264T>GCA16031569APCc.4724T>G (p.Ile1575Ser)
c.*4676T>G (n.*4676T>G)
c.4616T>G (p.Ile1539Ser)
c.4670T>G (p.Ile1557Ser)
c.*3992T>G (n.*3992T>G)
c.230+11292T>G
c.4700T>G (p.Ile1567Ser)
c.4595T>G (p.Ile1532Ser)
c.4586T>G (p.Ile1529Ser)
c.4547T>G (p.Ile1516Ser)
c.4493T>G (p.Ile1498Ser)
c.4397T>G (p.Ile1466Ser)
c.4367T>G (p.Ile1456Ser)
c.4292T>G (p.Ile1431Ser)
c.4190T>G (p.Ile1397Ser)
c.3821T>G (p.Ile1274Ser)
 ClinVar dbSNP
5g.112840264T=CA1573470729APCc.4724T= (p.Ile1575=)
c.*4676T= (n.*4676T=)
c.4616T= (p.Ile1539=)
c.4670T= (p.Ile1557=)
c.*3992T= (n.*3992T=)
c.230+11292T=
c.4700T= (p.Ile1567=)
c.4595T= (p.Ile1532=)
c.4586T= (p.Ile1529=)
c.4547T= (p.Ile1516=)
c.4493T= (p.Ile1498=)
c.4397T= (p.Ile1466=)
c.4367T= (p.Ile1456=)
c.4292T= (p.Ile1431=)
c.4190T= (p.Ile1397=)
c.3821T= (p.Ile1274=)
5g.112840264_112840265delCA891843023APCc.4724_4725del (p.Ile1575ArgfsTer3)
c.*4676_*4677del (n.*4676_*4677del)
c.4616_4617del (p.Ile1539ArgfsTer3)
c.4670_4671del (p.Ile1557ArgfsTer3)
c.*3992_*3993del (n.*3992_*3993del)
c.230+11292_230+11293del
c.4700_4701del (p.Ile1567ArgfsTer3)
c.4595_4596del (p.Ile1532ArgfsTer3)
c.4586_4587del (p.Ile1529ArgfsTer3)
c.4547_4548del (p.Ile1516ArgfsTer3)
c.4493_4494del (p.Ile1498ArgfsTer3)
c.4397_4398del (p.Ile1466ArgfsTer3)
c.4367_4368del (p.Ile1456ArgfsTer3)
c.4292_4293del (p.Ile1431ArgfsTer3)
c.4190_4191del (p.Ile1397ArgfsTer3)
c.3821_3822del (p.Ile1274ArgfsTer3)
 ClinVar dbSNP
5g.112840265dupCA645543971APCc.4725dup (p.Asp1576Ter)
c.*4677dup (n.*4677dup)
c.4617dup (p.Asp1540Ter)
c.4671dup (p.Asp1558Ter)
c.*3993dup (n.*3993dup)
c.230+11293dup
c.4701dup (p.Asp1568Ter)
c.4596dup (p.Asp1533Ter)
c.4587dup (p.Asp1530Ter)
c.4548dup (p.Asp1517Ter)
c.4494dup (p.Asp1499Ter)
c.4398dup (p.Asp1467Ter)
c.4368dup (p.Asp1457Ter)
c.4293dup (p.Asp1432Ter)
c.4191dup (p.Asp1398Ter)
c.3822dup (p.Asp1275Ter)
 dbSNP COSMIC
5g.112840265delCA645372797APCc.4725del (p.Ile1575MetfsTer8)
c.*4677del (n.*4677del)
c.4617del (p.Ile1539MetfsTer8)
c.4671del (p.Ile1557MetfsTer8)
c.*3993del (n.*3993del)
c.230+11293del
c.4701del (p.Ile1567MetfsTer8)
c.4596del (p.Ile1532MetfsTer8)
c.4587del (p.Ile1529MetfsTer8)
c.4548del (p.Ile1516MetfsTer8)
c.4494del (p.Ile1498MetfsTer8)
c.4398del (p.Ile1466MetfsTer8)
c.4368del (p.Ile1456MetfsTer8)
c.4293del (p.Ile1431MetfsTer8)
c.4191del (p.Ile1397MetfsTer8)
c.3822del (p.Ile1274MetfsTer8)
 ClinVar dbSNP
5g.112840264_112840272dupCA915943496APCc.4724_4732dup (p.Ser1577_Glu1578insValAspSer)
c.*4676_*4684dup (n.*4676_*4684dup)
c.4616_4624dup (p.Ser1541_Glu1542insValAspSer)
c.4670_4678dup (p.Ser1559_Glu1560insValAspSer)
c.*3992_*4000dup (n.*3992_*4000dup)
c.230+11292_230+11300dup
c.4700_4708dup (p.Ser1569_Glu1570insValAspSer)
c.4595_4603dup (p.Ser1534_Glu1535insValAspSer)
c.4586_4594dup (p.Ser1531_Glu1532insValAspSer)
c.4547_4555dup (p.Ser1518_Glu1519insValAspSer)
c.4493_4501dup (p.Ser1500_Glu1501insValAspSer)
c.4397_4405dup (p.Ser1468_Glu1469insValAspSer)
c.4367_4375dup (p.Ser1458_Glu1459insValAspSer)
c.4292_4300dup (p.Ser1433_Glu1434insValAspSer)
c.4190_4198dup (p.Ser1399_Glu1400insValAspSer)
c.3821_3829dup (p.Ser1276_Glu1277insValAspSer)
 ClinVar dbSNP
5g.112840265T>ACA446206662APCc.4725T>A (p.Ile1575=)
c.*4677T>A (n.*4677T>A)
c.4617T>A (p.Ile1539=)
c.4671T>A (p.Ile1557=)
c.*3993T>A (n.*3993T>A)
c.230+11293T>A
c.4701T>A (p.Ile1567=)
c.4596T>A (p.Ile1532=)
c.4587T>A (p.Ile1529=)
c.4548T>A (p.Ile1516=)
c.4494T>A (p.Ile1498=)
c.4398T>A (p.Ile1466=)
c.4368T>A (p.Ile1456=)
c.4293T>A (p.Ile1431=)
c.4191T>A (p.Ile1397=)
c.3822T>A (p.Ile1274=)
 dbSNP
5g.112840265T>CCA446206663APCc.4725T>C (p.Ile1575=)
c.*4677T>C (n.*4677T>C)
c.4617T>C (p.Ile1539=)
c.4671T>C (p.Ile1557=)
c.*3993T>C (n.*3993T>C)
c.230+11293T>C
c.4701T>C (p.Ile1567=)
c.4596T>C (p.Ile1532=)
c.4587T>C (p.Ile1529=)
c.4548T>C (p.Ile1516=)
c.4494T>C (p.Ile1498=)
c.4398T>C (p.Ile1466=)
c.4368T>C (p.Ile1456=)
c.4293T>C (p.Ile1431=)
c.4191T>C (p.Ile1397=)
c.3822T>C (p.Ile1274=)
 ClinVar dbSNP COSMIC
5g.112840265T>GCA16031570APCc.4725T>G (p.Ile1575Met)
c.*4677T>G (n.*4677T>G)
c.4617T>G (p.Ile1539Met)
c.4671T>G (p.Ile1557Met)
c.*3993T>G (n.*3993T>G)
c.230+11293T>G
c.4701T>G (p.Ile1567Met)
c.4596T>G (p.Ile1532Met)
c.4587T>G (p.Ile1529Met)
c.4548T>G (p.Ile1516Met)
c.4494T>G (p.Ile1498Met)
c.4398T>G (p.Ile1466Met)
c.4368T>G (p.Ile1456Met)
c.4293T>G (p.Ile1431Met)
c.4191T>G (p.Ile1397Met)
c.3822T>G (p.Ile1274Met)
 gnomAD v4
5g.112840266G>ACA16031571APCc.4726G>A (p.Asp1576Asn)
c.*4678G>A (n.*4678G>A)
c.4618G>A (p.Asp1540Asn)
c.4672G>A (p.Asp1558Asn)
c.*3994G>A (n.*3994G>A)
c.230+11294G>A
c.4702G>A (p.Asp1568Asn)
c.4597G>A (p.Asp1533Asn)
c.4588G>A (p.Asp1530Asn)
c.4549G>A (p.Asp1517Asn)
c.4495G>A (p.Asp1499Asn)
c.4399G>A (p.Asp1467Asn)
c.4369G>A (p.Asp1457Asn)
c.4294G>A (p.Asp1432Asn)
c.4192G>A (p.Asp1398Asn)
c.3823G>A (p.Asp1275Asn)
 dbSNP COSMIC
5g.112840266G>CCA16031572APCc.4726G>C (p.Asp1576His)
c.*4678G>C (n.*4678G>C)
c.4618G>C (p.Asp1540His)
c.4672G>C (p.Asp1558His)
c.*3994G>C (n.*3994G>C)
c.230+11294G>C
c.4702G>C (p.Asp1568His)
c.4597G>C (p.Asp1533His)
c.4588G>C (p.Asp1530His)
c.4549G>C (p.Asp1517His)
c.4495G>C (p.Asp1499His)
c.4399G>C (p.Asp1467His)
c.4369G>C (p.Asp1457His)
c.4294G>C (p.Asp1432His)
c.4192G>C (p.Asp1398His)
c.3823G>C (p.Asp1275His)
 ClinVar dbSNP
5g.112840266G>TCA16031573APCc.4726G>T (p.Asp1576Tyr)
c.*4678G>T (n.*4678G>T)
c.4618G>T (p.Asp1540Tyr)
c.4672G>T (p.Asp1558Tyr)
c.*3994G>T (n.*3994G>T)
c.230+11294G>T
c.4702G>T (p.Asp1568Tyr)
c.4597G>T (p.Asp1533Tyr)
c.4588G>T (p.Asp1530Tyr)
c.4549G>T (p.Asp1517Tyr)
c.4495G>T (p.Asp1499Tyr)
c.4399G>T (p.Asp1467Tyr)
c.4369G>T (p.Asp1457Tyr)
c.4294G>T (p.Asp1432Tyr)
c.4192G>T (p.Asp1398Tyr)
c.3823G>T (p.Asp1275Tyr)
 ClinVar dbSNP gnomAD v4
5g.112840266_112840267insTCA446206664APCc.4726_4727insT (p.Asp1576ValfsTer3)
c.*4678_*4679insT (n.*4678_*4679insT)
c.4618_4619insT (p.Asp1540ValfsTer3)
c.4672_4673insT (p.Asp1558ValfsTer3)
c.*3994_*3995insT (n.*3994_*3995insT)
c.230+11294_230+11295insT
c.4702_4703insT (p.Asp1568ValfsTer3)
c.4597_4598insT (p.Asp1533ValfsTer3)
c.4588_4589insT (p.Asp1530ValfsTer3)
c.4549_4550insT (p.Asp1517ValfsTer3)
c.4495_4496insT (p.Asp1499ValfsTer3)
c.4399_4400insT (p.Asp1467ValfsTer3)
c.4369_4370insT (p.Asp1457ValfsTer3)
c.4294_4295insT (p.Asp1432ValfsTer3)
c.4192_4193insT (p.Asp1398ValfsTer3)
c.3823_3824insT (p.Asp1275ValfsTer3)
5g.112840267A>CCA16031574APCc.4727A>C (p.Asp1576Ala)
c.*4679A>C (n.*4679A>C)
c.4619A>C (p.Asp1540Ala)
c.4673A>C (p.Asp1558Ala)
c.*3995A>C (n.*3995A>C)
c.230+11295A>C
c.4703A>C (p.Asp1568Ala)
c.4598A>C (p.Asp1533Ala)
c.4589A>C (p.Asp1530Ala)
c.4550A>C (p.Asp1517Ala)
c.4496A>C (p.Asp1499Ala)
c.4400A>C (p.Asp1467Ala)
c.4370A>C (p.Asp1457Ala)
c.4295A>C (p.Asp1432Ala)
c.4193A>C (p.Asp1398Ala)
c.3824A>C (p.Asp1275Ala)
 dbSNP
5g.112840267A>GCA16031575APCc.4727A>G (p.Asp1576Gly)
c.*4679A>G (n.*4679A>G)
c.4619A>G (p.Asp1540Gly)
c.4673A>G (p.Asp1558Gly)
c.*3995A>G (n.*3995A>G)
c.230+11295A>G
c.4703A>G (p.Asp1568Gly)
c.4598A>G (p.Asp1533Gly)
c.4589A>G (p.Asp1530Gly)
c.4550A>G (p.Asp1517Gly)
c.4496A>G (p.Asp1499Gly)
c.4400A>G (p.Asp1467Gly)
c.4370A>G (p.Asp1457Gly)
c.4295A>G (p.Asp1432Gly)
c.4193A>G (p.Asp1398Gly)
c.3824A>G (p.Asp1275Gly)
 dbSNP
5g.112840267A>TCA16031576APCc.4727A>T (p.Asp1576Val)
c.*4679A>T (n.*4679A>T)
c.4619A>T (p.Asp1540Val)
c.4673A>T (p.Asp1558Val)
c.*3995A>T (n.*3995A>T)
c.230+11295A>T
c.4703A>T (p.Asp1568Val)
c.4598A>T (p.Asp1533Val)
c.4589A>T (p.Asp1530Val)
c.4550A>T (p.Asp1517Val)
c.4496A>T (p.Asp1499Val)
c.4400A>T (p.Asp1467Val)
c.4370A>T (p.Asp1457Val)
c.4295A>T (p.Asp1432Val)
c.4193A>T (p.Asp1398Val)
c.3824A>T (p.Asp1275Val)
 dbSNP
5g.112840268T>ACA16031577APCc.4728T>A (p.Asp1576Glu)
c.*4680T>A (n.*4680T>A)
c.4620T>A (p.Asp1540Glu)
c.4674T>A (p.Asp1558Glu)
c.*3996T>A (n.*3996T>A)
c.230+11296T>A
c.4704T>A (p.Asp1568Glu)
c.4599T>A (p.Asp1533Glu)
c.4590T>A (p.Asp1530Glu)
c.4551T>A (p.Asp1517Glu)
c.4497T>A (p.Asp1499Glu)
c.4401T>A (p.Asp1467Glu)
c.4371T>A (p.Asp1457Glu)
c.4296T>A (p.Asp1432Glu)
c.4194T>A (p.Asp1398Glu)
c.3825T>A (p.Asp1275Glu)
 dbSNP
5g.112840268T>CCA446206665APCc.4728T>C (p.Asp1576=)
c.*4680T>C (n.*4680T>C)
c.4620T>C (p.Asp1540=)
c.4674T>C (p.Asp1558=)
c.*3996T>C (n.*3996T>C)
c.230+11296T>C
c.4704T>C (p.Asp1568=)
c.4599T>C (p.Asp1533=)
c.4590T>C (p.Asp1530=)
c.4551T>C (p.Asp1517=)
c.4497T>C (p.Asp1499=)
c.4401T>C (p.Asp1467=)
c.4371T>C (p.Asp1457=)
c.4296T>C (p.Asp1432=)
c.4194T>C (p.Asp1398=)
c.3825T>C (p.Asp1275=)
 dbSNP
5g.112840268T>GCA16031578APCc.4728T>G (p.Asp1576Glu)
c.*4680T>G (n.*4680T>G)
c.4620T>G (p.Asp1540Glu)
c.4674T>G (p.Asp1558Glu)
c.*3996T>G (n.*3996T>G)
c.230+11296T>G
c.4704T>G (p.Asp1568Glu)
c.4599T>G (p.Asp1533Glu)
c.4590T>G (p.Asp1530Glu)
c.4551T>G (p.Asp1517Glu)
c.4497T>G (p.Asp1499Glu)
c.4401T>G (p.Asp1467Glu)
c.4371T>G (p.Asp1457Glu)
c.4296T>G (p.Asp1432Glu)
c.4194T>G (p.Asp1398Glu)
c.3825T>G (p.Asp1275Glu)
 dbSNP
5g.112840269T>ACA16031579APCc.4729T>A (p.Ser1577Thr)
c.*4681T>A (n.*4681T>A)
c.4621T>A (p.Ser1541Thr)
c.4675T>A (p.Ser1559Thr)
c.*3997T>A (n.*3997T>A)
c.230+11297T>A
c.4705T>A (p.Ser1569Thr)
c.4600T>A (p.Ser1534Thr)
c.4591T>A (p.Ser1531Thr)
c.4552T>A (p.Ser1518Thr)
c.4498T>A (p.Ser1500Thr)
c.4402T>A (p.Ser1468Thr)
c.4372T>A (p.Ser1458Thr)
c.4297T>A (p.Ser1433Thr)
c.4195T>A (p.Ser1399Thr)
c.3826T>A (p.Ser1276Thr)
 dbSNP
5g.112840269T>CCA16031580APCc.4729T>C (p.Ser1577Pro)
c.*4681T>C (n.*4681T>C)
c.4621T>C (p.Ser1541Pro)
c.4675T>C (p.Ser1559Pro)
c.*3997T>C (n.*3997T>C)
c.230+11297T>C
c.4705T>C (p.Ser1569Pro)
c.4600T>C (p.Ser1534Pro)
c.4591T>C (p.Ser1531Pro)
c.4552T>C (p.Ser1518Pro)
c.4498T>C (p.Ser1500Pro)
c.4402T>C (p.Ser1468Pro)
c.4372T>C (p.Ser1458Pro)
c.4297T>C (p.Ser1433Pro)
c.4195T>C (p.Ser1399Pro)
c.3826T>C (p.Ser1276Pro)
5g.112840269T>GCA16031581APCc.4729T>G (p.Ser1577Ala)
c.*4681T>G (n.*4681T>G)
c.4621T>G (p.Ser1541Ala)
c.4675T>G (p.Ser1559Ala)
c.*3997T>G (n.*3997T>G)
c.230+11297T>G
c.4705T>G (p.Ser1569Ala)
c.4600T>G (p.Ser1534Ala)
c.4591T>G (p.Ser1531Ala)
c.4552T>G (p.Ser1518Ala)
c.4498T>G (p.Ser1500Ala)
c.4402T>G (p.Ser1468Ala)
c.4372T>G (p.Ser1458Ala)
c.4297T>G (p.Ser1433Ala)
c.4195T>G (p.Ser1399Ala)
c.3826T>G (p.Ser1276Ala)
 gnomAD v4
5g.112840270C>ACA16031582APCc.4730C>A (p.Ser1577Tyr)
c.*4682C>A (n.*4682C>A)
c.4622C>A (p.Ser1541Tyr)
c.4676C>A (p.Ser1559Tyr)
c.*3998C>A (n.*3998C>A)
c.230+11298C>A
c.4706C>A (p.Ser1569Tyr)
c.4601C>A (p.Ser1534Tyr)
c.4592C>A (p.Ser1531Tyr)
c.4553C>A (p.Ser1518Tyr)
c.4499C>A (p.Ser1500Tyr)
c.4403C>A (p.Ser1468Tyr)
c.4373C>A (p.Ser1458Tyr)
c.4298C>A (p.Ser1433Tyr)
c.4196C>A (p.Ser1399Tyr)
c.3827C>A (p.Ser1276Tyr)
 dbSNP
5g.112840270C=CA1573470750APCc.4730C= (p.Ser1577=)
c.*4682C= (n.*4682C=)
c.4622C= (p.Ser1541=)
c.4676C= (p.Ser1559=)
c.*3998C= (n.*3998C=)
c.230+11298C=
c.4706C= (p.Ser1569=)
c.4601C= (p.Ser1534=)
c.4592C= (p.Ser1531=)
c.4553C= (p.Ser1518=)
c.4499C= (p.Ser1500=)
c.4403C= (p.Ser1468=)
c.4373C= (p.Ser1458=)
c.4298C= (p.Ser1433=)
c.4196C= (p.Ser1399=)
c.3827C= (p.Ser1276=)
5g.112840270C>GCA16031583APCc.4730C>G (p.Ser1577Cys)
c.*4682C>G (n.*4682C>G)
c.4622C>G (p.Ser1541Cys)
c.4676C>G (p.Ser1559Cys)
c.*3998C>G (n.*3998C>G)
c.230+11298C>G
c.4706C>G (p.Ser1569Cys)
c.4601C>G (p.Ser1534Cys)
c.4592C>G (p.Ser1531Cys)
c.4553C>G (p.Ser1518Cys)
c.4499C>G (p.Ser1500Cys)
c.4403C>G (p.Ser1468Cys)
c.4373C>G (p.Ser1458Cys)
c.4298C>G (p.Ser1433Cys)
c.4196C>G (p.Ser1399Cys)
c.3827C>G (p.Ser1276Cys)
 dbSNP
5g.112840270C>TCA10582316APCc.4730C>T (p.Ser1577Phe)
c.*4682C>T (n.*4682C>T)
c.4622C>T (p.Ser1541Phe)
c.4676C>T (p.Ser1559Phe)
c.*3998C>T (n.*3998C>T)
c.230+11298C>T
c.4706C>T (p.Ser1569Phe)
c.4601C>T (p.Ser1534Phe)
c.4592C>T (p.Ser1531Phe)
c.4553C>T (p.Ser1518Phe)
c.4499C>T (p.Ser1500Phe)
c.4403C>T (p.Ser1468Phe)
c.4373C>T (p.Ser1458Phe)
c.4298C>T (p.Ser1433Phe)
c.4196C>T (p.Ser1399Phe)
c.3827C>T (p.Ser1276Phe)
 ClinVar dbSNP gnomAD v4
5g.112840271T>ACA446206666APCc.4731T>A (p.Ser1577=)
c.*4683T>A (n.*4683T>A)
c.4623T>A (p.Ser1541=)
c.4677T>A (p.Ser1559=)
c.*3999T>A (n.*3999T>A)
c.230+11299T>A
c.4707T>A (p.Ser1569=)
c.4602T>A (p.Ser1534=)
c.4593T>A (p.Ser1531=)
c.4554T>A (p.Ser1518=)
c.4500T>A (p.Ser1500=)
c.4404T>A (p.Ser1468=)
c.4374T>A (p.Ser1458=)
c.4299T>A (p.Ser1433=)
c.4197T>A (p.Ser1399=)
c.3828T>A (p.Ser1276=)
 dbSNP
5g.112840271T>CCA446206667APCc.4731T>C (p.Ser1577=)
c.*4683T>C (n.*4683T>C)
c.4623T>C (p.Ser1541=)
c.4677T>C (p.Ser1559=)
c.*3999T>C (n.*3999T>C)
c.230+11299T>C
c.4707T>C (p.Ser1569=)
c.4602T>C (p.Ser1534=)
c.4593T>C (p.Ser1531=)
c.4554T>C (p.Ser1518=)
c.4500T>C (p.Ser1500=)
c.4404T>C (p.Ser1468=)
c.4374T>C (p.Ser1458=)
c.4299T>C (p.Ser1433=)
c.4197T>C (p.Ser1399=)
c.3828T>C (p.Ser1276=)
 dbSNP
5g.112840271T>GCA446206668APCc.4731T>G (p.Ser1577=)
c.*4683T>G (n.*4683T>G)
c.4623T>G (p.Ser1541=)
c.4677T>G (p.Ser1559=)
c.*3999T>G (n.*3999T>G)
c.230+11299T>G
c.4707T>G (p.Ser1569=)
c.4602T>G (p.Ser1534=)
c.4593T>G (p.Ser1531=)
c.4554T>G (p.Ser1518=)
c.4500T>G (p.Ser1500=)
c.4404T>G (p.Ser1468=)
c.4374T>G (p.Ser1458=)
c.4299T>G (p.Ser1433=)
c.4197T>G (p.Ser1399=)
c.3828T>G (p.Ser1276=)
5g.112840272G>ACA16031584APCc.4732G>A (p.Glu1578Lys)
c.*4684G>A (n.*4684G>A)
c.4624G>A (p.Glu1542Lys)
c.4678G>A (p.Glu1560Lys)
c.*4000G>A (n.*4000G>A)
c.230+11300G>A
c.4708G>A (p.Glu1570Lys)
c.4603G>A (p.Glu1535Lys)
c.4594G>A (p.Glu1532Lys)
c.4555G>A (p.Glu1519Lys)
c.4501G>A (p.Glu1501Lys)
c.4405G>A (p.Glu1469Lys)
c.4375G>A (p.Glu1459Lys)
c.4300G>A (p.Glu1434Lys)
c.4198G>A (p.Glu1400Lys)
c.3829G>A (p.Glu1277Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112840272G>CCA16031585APCc.4732G>C (p.Glu1578Gln)
c.*4684G>C (n.*4684G>C)
c.4624G>C (p.Glu1542Gln)
c.4678G>C (p.Glu1560Gln)
c.*4000G>C (n.*4000G>C)
c.230+11300G>C
c.4708G>C (p.Glu1570Gln)
c.4603G>C (p.Glu1535Gln)
c.4594G>C (p.Glu1532Gln)
c.4555G>C (p.Glu1519Gln)
c.4501G>C (p.Glu1501Gln)
c.4405G>C (p.Glu1469Gln)
c.4375G>C (p.Glu1459Gln)
c.4300G>C (p.Glu1434Gln)
c.4198G>C (p.Glu1400Gln)
c.3829G>C (p.Glu1277Gln)
 dbSNP
5g.112840272G>TCA16031586APCc.4732G>T (p.Glu1578Ter)
c.*4684G>T (n.*4684G>T)
c.4624G>T (p.Glu1542Ter)
c.4678G>T (p.Glu1560Ter)
c.*4000G>T (n.*4000G>T)
c.230+11300G>T
c.4708G>T (p.Glu1570Ter)
c.4603G>T (p.Glu1535Ter)
c.4594G>T (p.Glu1532Ter)
c.4555G>T (p.Glu1519Ter)
c.4501G>T (p.Glu1501Ter)
c.4405G>T (p.Glu1469Ter)
c.4375G>T (p.Glu1459Ter)
c.4300G>T (p.Glu1434Ter)
c.4198G>T (p.Glu1400Ter)
c.3829G>T (p.Glu1277Ter)
 ClinVar dbSNP COSMIC
5g.112840272_112840273delinsGACA1573470757APCc.4732_4733delinsGA (p.Glu1578=)
c.*4684_*4685delinsGA (n.*4684_*4685delinsGA)
c.4624_4625delinsGA (p.Glu1542=)
c.4678_4679delinsGA (p.Glu1560=)
c.*4000_*4001delinsGA (n.*4000_*4001delinsGA)
c.230+11300_230+11301delinsGA
c.4708_4709delinsGA (p.Glu1570=)
c.4603_4604delinsGA (p.Glu1535=)
c.4594_4595delinsGA (p.Glu1532=)
c.4555_4556delinsGA (p.Glu1519=)
c.4501_4502delinsGA (p.Glu1501=)
c.4405_4406delinsGA (p.Glu1469=)
c.4375_4376delinsGA (p.Glu1459=)
c.4300_4301delinsGA (p.Glu1434=)
c.4198_4199delinsGA (p.Glu1400=)
c.3829_3830delinsGA (p.Glu1277=)
5g.112840273A>CCA16031587APCc.4733A>C (p.Glu1578Ala)
c.*4685A>C (n.*4685A>C)
c.4625A>C (p.Glu1542Ala)
c.4679A>C (p.Glu1560Ala)
c.*4001A>C (n.*4001A>C)
c.230+11301A>C
c.4709A>C (p.Glu1570Ala)
c.4604A>C (p.Glu1535Ala)
c.4595A>C (p.Glu1532Ala)
c.4556A>C (p.Glu1519Ala)
c.4502A>C (p.Glu1501Ala)
c.4406A>C (p.Glu1469Ala)
c.4376A>C (p.Glu1459Ala)
c.4301A>C (p.Glu1434Ala)
c.4199A>C (p.Glu1400Ala)
c.3830A>C (p.Glu1277Ala)
5g.112840273A>GCA16031588APCc.4733A>G (p.Glu1578Gly)
c.*4685A>G (n.*4685A>G)
c.4625A>G (p.Glu1542Gly)
c.4679A>G (p.Glu1560Gly)
c.*4001A>G (n.*4001A>G)
c.230+11301A>G
c.4709A>G (p.Glu1570Gly)
c.4604A>G (p.Glu1535Gly)
c.4595A>G (p.Glu1532Gly)
c.4556A>G (p.Glu1519Gly)
c.4502A>G (p.Glu1501Gly)
c.4406A>G (p.Glu1469Gly)
c.4376A>G (p.Glu1459Gly)
c.4301A>G (p.Glu1434Gly)
c.4199A>G (p.Glu1400Gly)
c.3830A>G (p.Glu1277Gly)
 dbSNP
5g.112840273A>TCA16031589APCc.4733A>T (p.Glu1578Val)
c.*4685A>T (n.*4685A>T)
c.4625A>T (p.Glu1542Val)
c.4679A>T (p.Glu1560Val)
c.*4001A>T (n.*4001A>T)
c.230+11301A>T
c.4709A>T (p.Glu1570Val)
c.4604A>T (p.Glu1535Val)
c.4595A>T (p.Glu1532Val)
c.4556A>T (p.Glu1519Val)
c.4502A>T (p.Glu1501Val)
c.4406A>T (p.Glu1469Val)
c.4376A>T (p.Glu1459Val)
c.4301A>T (p.Glu1434Val)
c.4199A>T (p.Glu1400Val)
c.3830A>T (p.Glu1277Val)
 dbSNP
5g.112840276dupCA446206669APCc.4736dup (p.Asp1580GlyfsTer5)
c.*4688dup (n.*4688dup)
c.4628dup (p.Asp1544GlyfsTer5)
c.4682dup (p.Asp1562GlyfsTer5)
c.*4004dup (n.*4004dup)
c.230+11304dup
c.4712dup (p.Asp1572GlyfsTer5)
c.4607dup (p.Asp1537GlyfsTer5)
c.4598dup (p.Asp1534GlyfsTer5)
c.4559dup (p.Asp1521GlyfsTer5)
c.4505dup (p.Asp1503GlyfsTer5)
c.4409dup (p.Asp1471GlyfsTer5)
c.4379dup (p.Asp1461GlyfsTer5)
c.4304dup (p.Asp1436GlyfsTer5)
c.4202dup (p.Asp1402GlyfsTer5)
c.3833dup (p.Asp1279GlyfsTer5)
 ClinVar dbSNP COSMIC COSMIC
5g.112840276delCA658655951APCc.4736del (p.Lys1579ArgfsTer4)
c.*4688del (n.*4688del)
c.4628del (p.Lys1543ArgfsTer4)
c.4682del (p.Lys1561ArgfsTer4)
c.*4004del (n.*4004del)
c.230+11304del
c.4712del (p.Lys1571ArgfsTer4)
c.4607del (p.Lys1536ArgfsTer4)
c.4598del (p.Lys1533ArgfsTer4)
c.4559del (p.Lys1520ArgfsTer4)
c.4505del (p.Lys1502ArgfsTer4)
c.4409del (p.Lys1470ArgfsTer4)
c.4379del (p.Lys1460ArgfsTer4)
c.4304del (p.Lys1435ArgfsTer4)
c.4202del (p.Lys1401ArgfsTer4)
c.3833del (p.Lys1278ArgfsTer4)
 ClinVar dbSNP
5g.112840274A=CA1573470770APCc.4734A= (p.Glu1578=)
c.*4686A= (n.*4686A=)
c.4626A= (p.Glu1542=)
c.4680A= (p.Glu1560=)
c.*4002A= (n.*4002A=)
c.230+11302A=
c.4710A= (p.Glu1570=)
c.4605A= (p.Glu1535=)
c.4596A= (p.Glu1532=)
c.4557A= (p.Glu1519=)
c.4503A= (p.Glu1501=)
c.4407A= (p.Glu1469=)
c.4377A= (p.Glu1459=)
c.4302A= (p.Glu1434=)
c.4200A= (p.Glu1400=)
c.3831A= (p.Glu1277=)
5g.112840274A>CCA16031590APCc.4734A>C (p.Glu1578Asp)
c.*4686A>C (n.*4686A>C)
c.4626A>C (p.Glu1542Asp)
c.4680A>C (p.Glu1560Asp)
c.*4002A>C (n.*4002A>C)
c.230+11302A>C
c.4710A>C (p.Glu1570Asp)
c.4605A>C (p.Glu1535Asp)
c.4596A>C (p.Glu1532Asp)
c.4557A>C (p.Glu1519Asp)
c.4503A>C (p.Glu1501Asp)
c.4407A>C (p.Glu1469Asp)
c.4377A>C (p.Glu1459Asp)
c.4302A>C (p.Glu1434Asp)
c.4200A>C (p.Glu1400Asp)
c.3831A>C (p.Glu1277Asp)
5g.112840274A>GCA446206670APCc.4734A>G (p.Glu1578=)
c.*4686A>G (n.*4686A>G)
c.4626A>G (p.Glu1542=)
c.4680A>G (p.Glu1560=)
c.*4002A>G (n.*4002A>G)
c.230+11302A>G
c.4710A>G (p.Glu1570=)
c.4605A>G (p.Glu1535=)
c.4596A>G (p.Glu1532=)
c.4557A>G (p.Glu1519=)
c.4503A>G (p.Glu1501=)
c.4407A>G (p.Glu1469=)
c.4377A>G (p.Glu1459=)
c.4302A>G (p.Glu1434=)
c.4200A>G (p.Glu1400=)
c.3831A>G (p.Glu1277=)
 ClinVar dbSNP gnomAD v4
5g.112840274A>TCA16031591APCc.4734A>T (p.Glu1578Asp)
c.*4686A>T (n.*4686A>T)
c.4626A>T (p.Glu1542Asp)
c.4680A>T (p.Glu1560Asp)
c.*4002A>T (n.*4002A>T)
c.230+11302A>T
c.4710A>T (p.Glu1570Asp)
c.4605A>T (p.Glu1535Asp)
c.4596A>T (p.Glu1532Asp)
c.4557A>T (p.Glu1519Asp)
c.4503A>T (p.Glu1501Asp)
c.4407A>T (p.Glu1469Asp)
c.4377A>T (p.Glu1459Asp)
c.4302A>T (p.Glu1434Asp)
c.4200A>T (p.Glu1400Asp)
c.3831A>T (p.Glu1277Asp)
 dbSNP
5g.112840275A=CA1573470782APCc.4735A= (p.Lys1579=)
c.*4687A= (n.*4687A=)
c.4627A= (p.Lys1543=)
c.4681A= (p.Lys1561=)
c.*4003A= (n.*4003A=)
c.230+11303A=
c.4711A= (p.Lys1571=)
c.4606A= (p.Lys1536=)
c.4597A= (p.Lys1533=)
c.4558A= (p.Lys1520=)
c.4504A= (p.Lys1502=)
c.4408A= (p.Lys1470=)
c.4378A= (p.Lys1460=)
c.4303A= (p.Lys1435=)
c.4201A= (p.Lys1401=)
c.3832A= (p.Lys1278=)
5g.112840275A>CCA16031592APCc.4735A>C (p.Lys1579Gln)
c.*4687A>C (n.*4687A>C)
c.4627A>C (p.Lys1543Gln)
c.4681A>C (p.Lys1561Gln)
c.*4003A>C (n.*4003A>C)
c.230+11303A>C
c.4711A>C (p.Lys1571Gln)
c.4606A>C (p.Lys1536Gln)
c.4597A>C (p.Lys1533Gln)
c.4558A>C (p.Lys1520Gln)
c.4504A>C (p.Lys1502Gln)
c.4408A>C (p.Lys1470Gln)
c.4378A>C (p.Lys1460Gln)
c.4303A>C (p.Lys1435Gln)
c.4201A>C (p.Lys1401Gln)
c.3832A>C (p.Lys1278Gln)
5g.112840275A>GCA16031593APCc.4735A>G (p.Lys1579Glu)
c.*4687A>G (n.*4687A>G)
c.4627A>G (p.Lys1543Glu)
c.4681A>G (p.Lys1561Glu)
c.*4003A>G (n.*4003A>G)
c.230+11303A>G
c.4711A>G (p.Lys1571Glu)
c.4606A>G (p.Lys1536Glu)
c.4597A>G (p.Lys1533Glu)
c.4558A>G (p.Lys1520Glu)
c.4504A>G (p.Lys1502Glu)
c.4408A>G (p.Lys1470Glu)
c.4378A>G (p.Lys1460Glu)
c.4303A>G (p.Lys1435Glu)
c.4201A>G (p.Lys1401Glu)
c.3832A>G (p.Lys1278Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840275A>TCA16031594APCc.4735A>T (p.Lys1579Ter)
c.*4687A>T (n.*4687A>T)
c.4627A>T (p.Lys1543Ter)
c.4681A>T (p.Lys1561Ter)
c.*4003A>T (n.*4003A>T)
c.230+11303A>T
c.4711A>T (p.Lys1571Ter)
c.4606A>T (p.Lys1536Ter)
c.4597A>T (p.Lys1533Ter)
c.4558A>T (p.Lys1520Ter)
c.4504A>T (p.Lys1502Ter)
c.4408A>T (p.Lys1470Ter)
c.4378A>T (p.Lys1460Ter)
c.4303A>T (p.Lys1435Ter)
c.4201A>T (p.Lys1401Ter)
c.3832A>T (p.Lys1278Ter)
 dbSNP
5g.112840275_112840276insGGACCTATCA645543972APCc.4735_4736insGGACCTAT (p.Lys1579ArgfsTer7)
c.*4687_*4688insGGACCTAT (n.*4687_*4688insGGACCTAT)
c.4627_4628insGGACCTAT (p.Lys1543ArgfsTer7)
c.4681_4682insGGACCTAT (p.Lys1561ArgfsTer7)
c.*4003_*4004insGGACCTAT (n.*4003_*4004insGGACCTAT)
c.230+11303_230+11304insGGACCTAT
c.4711_4712insGGACCTAT (p.Lys1571ArgfsTer7)
c.4606_4607insGGACCTAT (p.Lys1536ArgfsTer7)
c.4597_4598insGGACCTAT (p.Lys1533ArgfsTer7)
c.4558_4559insGGACCTAT (p.Lys1520ArgfsTer7)
c.4504_4505insGGACCTAT (p.Lys1502ArgfsTer7)
c.4408_4409insGGACCTAT (p.Lys1470ArgfsTer7)
c.4378_4379insGGACCTAT (p.Lys1460ArgfsTer7)
c.4303_4304insGGACCTAT (p.Lys1435ArgfsTer7)
c.4201_4202insGGACCTAT (p.Lys1401ArgfsTer7)
c.3832_3833insGGACCTAT (p.Lys1278ArgfsTer7)
 COSMIC
5g.112840276A=CA1573470786APCc.4736A= (p.Lys1579=)
c.*4688A= (n.*4688A=)
c.4628A= (p.Lys1543=)
c.4682A= (p.Lys1561=)
c.*4004A= (n.*4004A=)
c.230+11304A=
c.4712A= (p.Lys1571=)
c.4607A= (p.Lys1536=)
c.4598A= (p.Lys1533=)
c.4559A= (p.Lys1520=)
c.4505A= (p.Lys1502=)
c.4409A= (p.Lys1470=)
c.4379A= (p.Lys1460=)
c.4304A= (p.Lys1435=)
c.4202A= (p.Lys1401=)
c.3833A= (p.Lys1278=)
5g.112840276A>CCA16031595APCc.4736A>C (p.Lys1579Thr)
c.*4688A>C (n.*4688A>C)
c.4628A>C (p.Lys1543Thr)
c.4682A>C (p.Lys1561Thr)
c.*4004A>C (n.*4004A>C)
c.230+11304A>C
c.4712A>C (p.Lys1571Thr)
c.4607A>C (p.Lys1536Thr)
c.4598A>C (p.Lys1533Thr)
c.4559A>C (p.Lys1520Thr)
c.4505A>C (p.Lys1502Thr)
c.4409A>C (p.Lys1470Thr)
c.4379A>C (p.Lys1460Thr)
c.4304A>C (p.Lys1435Thr)
c.4202A>C (p.Lys1401Thr)
c.3833A>C (p.Lys1278Thr)
5g.112840276A>GCA16031596APCc.4736A>G (p.Lys1579Arg)
c.*4688A>G (n.*4688A>G)
c.4628A>G (p.Lys1543Arg)
c.4682A>G (p.Lys1561Arg)
c.*4004A>G (n.*4004A>G)
c.230+11304A>G
c.4712A>G (p.Lys1571Arg)
c.4607A>G (p.Lys1536Arg)
c.4598A>G (p.Lys1533Arg)
c.4559A>G (p.Lys1520Arg)
c.4505A>G (p.Lys1502Arg)
c.4409A>G (p.Lys1470Arg)
c.4379A>G (p.Lys1460Arg)
c.4304A>G (p.Lys1435Arg)
c.4202A>G (p.Lys1401Arg)
c.3833A>G (p.Lys1278Arg)
 ClinVar dbSNP
5g.112840276A>TCA16031597APCc.4736A>T (p.Lys1579Met)
c.*4688A>T (n.*4688A>T)
c.4628A>T (p.Lys1543Met)
c.4682A>T (p.Lys1561Met)
c.*4004A>T (n.*4004A>T)
c.230+11304A>T
c.4712A>T (p.Lys1571Met)
c.4607A>T (p.Lys1536Met)
c.4598A>T (p.Lys1533Met)
c.4559A>T (p.Lys1520Met)
c.4505A>T (p.Lys1502Met)
c.4409A>T (p.Lys1470Met)
c.4379A>T (p.Lys1460Met)
c.4304A>T (p.Lys1435Met)
c.4202A>T (p.Lys1401Met)
c.3833A>T (p.Lys1278Met)
 dbSNP
5g.112840277G>ACA039565APCc.4737G>A (p.Lys1579=)
c.*4689G>A (n.*4689G>A)
c.4629G>A (p.Lys1543=)
c.4683G>A (p.Lys1561=)
c.*4005G>A (n.*4005G>A)
c.230+11305G>A
c.4713G>A (p.Lys1571=)
c.4608G>A (p.Lys1536=)
c.4599G>A (p.Lys1533=)
c.4560G>A (p.Lys1520=)
c.4506G>A (p.Lys1502=)
c.4410G>A (p.Lys1470=)
c.4380G>A (p.Lys1460=)
c.4305G>A (p.Lys1435=)
c.4203G>A (p.Lys1401=)
c.3834G>A (p.Lys1278=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840277G>CCA16031598APCc.4737G>C (p.Lys1579Asn)
c.*4689G>C (n.*4689G>C)
c.4629G>C (p.Lys1543Asn)
c.4683G>C (p.Lys1561Asn)
c.*4005G>C (n.*4005G>C)
c.230+11305G>C
c.4713G>C (p.Lys1571Asn)
c.4608G>C (p.Lys1536Asn)
c.4599G>C (p.Lys1533Asn)
c.4560G>C (p.Lys1520Asn)
c.4506G>C (p.Lys1502Asn)
c.4410G>C (p.Lys1470Asn)
c.4380G>C (p.Lys1460Asn)
c.4305G>C (p.Lys1435Asn)
c.4203G>C (p.Lys1401Asn)
c.3834G>C (p.Lys1278Asn)
 dbSNP
5g.112840277G=CA1573470799APCc.4737G= (p.Lys1579=)
c.*4689G= (n.*4689G=)
c.4629G= (p.Lys1543=)
c.4683G= (p.Lys1561=)
c.*4005G= (n.*4005G=)
c.230+11305G=
c.4713G= (p.Lys1571=)
c.4608G= (p.Lys1536=)
c.4599G= (p.Lys1533=)
c.4560G= (p.Lys1520=)
c.4506G= (p.Lys1502=)
c.4410G= (p.Lys1470=)
c.4380G= (p.Lys1460=)
c.4305G= (p.Lys1435=)
c.4203G= (p.Lys1401=)
c.3834G= (p.Lys1278=)
5g.112840277G>TCA16031599APCc.4737G>T (p.Lys1579Asn)
c.*4689G>T (n.*4689G>T)
c.4629G>T (p.Lys1543Asn)
c.4683G>T (p.Lys1561Asn)
c.*4005G>T (n.*4005G>T)
c.230+11305G>T
c.4713G>T (p.Lys1571Asn)
c.4608G>T (p.Lys1536Asn)
c.4599G>T (p.Lys1533Asn)
c.4560G>T (p.Lys1520Asn)
c.4506G>T (p.Lys1502Asn)
c.4410G>T (p.Lys1470Asn)
c.4380G>T (p.Lys1460Asn)
c.4305G>T (p.Lys1435Asn)
c.4203G>T (p.Lys1401Asn)
c.3834G>T (p.Lys1278Asn)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112840278G>ACA16031600APCc.4738G>A (p.Asp1580Asn)
c.*4690G>A (n.*4690G>A)
c.4630G>A (p.Asp1544Asn)
c.4684G>A (p.Asp1562Asn)
c.*4006G>A (n.*4006G>A)
c.230+11306G>A
c.4714G>A (p.Asp1572Asn)
c.4609G>A (p.Asp1537Asn)
c.4600G>A (p.Asp1534Asn)
c.4561G>A (p.Asp1521Asn)
c.4507G>A (p.Asp1503Asn)
c.4411G>A (p.Asp1471Asn)
c.4381G>A (p.Asp1461Asn)
c.4306G>A (p.Asp1436Asn)
c.4204G>A (p.Asp1402Asn)
c.3835G>A (p.Asp1279Asn)
 dbSNP COSMIC
5g.112840278G>CCA16031601APCc.4738G>C (p.Asp1580His)
c.*4690G>C (n.*4690G>C)
c.4630G>C (p.Asp1544His)
c.4684G>C (p.Asp1562His)
c.*4006G>C (n.*4006G>C)
c.230+11306G>C
c.4714G>C (p.Asp1572His)
c.4609G>C (p.Asp1537His)
c.4600G>C (p.Asp1534His)
c.4561G>C (p.Asp1521His)
c.4507G>C (p.Asp1503His)
c.4411G>C (p.Asp1471His)
c.4381G>C (p.Asp1461His)
c.4306G>C (p.Asp1436His)
c.4204G>C (p.Asp1402His)
c.3835G>C (p.Asp1279His)
 dbSNP
5g.112840278G=CA1573470815APCc.4738G= (p.Asp1580=)
c.*4690G= (n.*4690G=)
c.4630G= (p.Asp1544=)
c.4684G= (p.Asp1562=)
c.*4006G= (n.*4006G=)
c.230+11306G=
c.4714G= (p.Asp1572=)
c.4609G= (p.Asp1537=)
c.4600G= (p.Asp1534=)
c.4561G= (p.Asp1521=)
c.4507G= (p.Asp1503=)
c.4411G= (p.Asp1471=)
c.4381G= (p.Asp1461=)
c.4306G= (p.Asp1436=)
c.4204G= (p.Asp1402=)
c.3835G= (p.Asp1279=)
5g.112840278G>TCA16031602APCc.4738G>T (p.Asp1580Tyr)
c.*4690G>T (n.*4690G>T)
c.4630G>T (p.Asp1544Tyr)
c.4684G>T (p.Asp1562Tyr)
c.*4006G>T (n.*4006G>T)
c.230+11306G>T
c.4714G>T (p.Asp1572Tyr)
c.4609G>T (p.Asp1537Tyr)
c.4600G>T (p.Asp1534Tyr)
c.4561G>T (p.Asp1521Tyr)
c.4507G>T (p.Asp1503Tyr)
c.4411G>T (p.Asp1471Tyr)
c.4381G>T (p.Asp1461Tyr)
c.4306G>T (p.Asp1436Tyr)
c.4204G>T (p.Asp1402Tyr)
c.3835G>T (p.Asp1279Tyr)
 dbSNP
5g.112840278_112840282dupCA658760773APCc.4738_4742dup (p.Leu1582ThrfsTer3)
c.*4690_*4694dup (n.*4690_*4694dup)
c.4630_4634dup (p.Leu1546ThrfsTer3)
c.4684_4688dup (p.Leu1564ThrfsTer3)
c.*4006_*4010dup (n.*4006_*4010dup)
c.230+11306_230+11310dup
c.4714_4718dup (p.Leu1574ThrfsTer3)
c.4609_4613dup (p.Leu1539ThrfsTer3)
c.4600_4604dup (p.Leu1536ThrfsTer3)
c.4561_4565dup (p.Leu1523ThrfsTer3)
c.4507_4511dup (p.Leu1505ThrfsTer3)
c.4411_4415dup (p.Leu1473ThrfsTer3)
c.4381_4385dup (p.Leu1463ThrfsTer3)
c.4306_4310dup (p.Leu1438ThrfsTer3)
c.4204_4208dup (p.Leu1404ThrfsTer3)
c.3835_3839dup (p.Leu1281ThrfsTer3)
5g.112840279A=CA1573470830APCc.4739A= (p.Asp1580=)
c.*4691A= (n.*4691A=)
c.4631A= (p.Asp1544=)
c.4685A= (p.Asp1562=)
c.*4007A= (n.*4007A=)
c.230+11307A=
c.4715A= (p.Asp1572=)
c.4610A= (p.Asp1537=)
c.4601A= (p.Asp1534=)
c.4562A= (p.Asp1521=)
c.4508A= (p.Asp1503=)
c.4412A= (p.Asp1471=)
c.4382A= (p.Asp1461=)
c.4307A= (p.Asp1436=)
c.4205A= (p.Asp1402=)
c.3836A= (p.Asp1279=)
5g.112840279A>CCA16031603APCc.4739A>C (p.Asp1580Ala)
c.*4691A>C (n.*4691A>C)
c.4631A>C (p.Asp1544Ala)
c.4685A>C (p.Asp1562Ala)
c.*4007A>C (n.*4007A>C)
c.230+11307A>C
c.4715A>C (p.Asp1572Ala)
c.4610A>C (p.Asp1537Ala)
c.4601A>C (p.Asp1534Ala)
c.4562A>C (p.Asp1521Ala)
c.4508A>C (p.Asp1503Ala)
c.4412A>C (p.Asp1471Ala)
c.4382A>C (p.Asp1461Ala)
c.4307A>C (p.Asp1436Ala)
c.4205A>C (p.Asp1402Ala)
c.3836A>C (p.Asp1279Ala)
 dbSNP
5g.112840279A>GCA16031604APCc.4739A>G (p.Asp1580Gly)
c.*4691A>G (n.*4691A>G)
c.4631A>G (p.Asp1544Gly)
c.4685A>G (p.Asp1562Gly)
c.*4007A>G (n.*4007A>G)
c.230+11307A>G
c.4715A>G (p.Asp1572Gly)
c.4610A>G (p.Asp1537Gly)
c.4601A>G (p.Asp1534Gly)
c.4562A>G (p.Asp1521Gly)
c.4508A>G (p.Asp1503Gly)
c.4412A>G (p.Asp1471Gly)
c.4382A>G (p.Asp1461Gly)
c.4307A>G (p.Asp1436Gly)
c.4205A>G (p.Asp1402Gly)
c.3836A>G (p.Asp1279Gly)
 ClinVar dbSNP
5g.112840279A>TCA16031605APCc.4739A>T (p.Asp1580Val)
c.*4691A>T (n.*4691A>T)
c.4631A>T (p.Asp1544Val)
c.4685A>T (p.Asp1562Val)
c.*4007A>T (n.*4007A>T)
c.230+11307A>T
c.4715A>T (p.Asp1572Val)
c.4610A>T (p.Asp1537Val)
c.4601A>T (p.Asp1534Val)
c.4562A>T (p.Asp1521Val)
c.4508A>T (p.Asp1503Val)
c.4412A>T (p.Asp1471Val)
c.4382A>T (p.Asp1461Val)
c.4307A>T (p.Asp1436Val)
c.4205A>T (p.Asp1402Val)
c.3836A>T (p.Asp1279Val)
 dbSNP
5g.112840279dupCA2695205303APCc.4739dup (p.Asp1580GlufsTer5)
c.*4691dup (n.*4691dup)
c.4631dup (p.Asp1544GlufsTer5)
c.4685dup (p.Asp1562GlufsTer5)
c.*4007dup (n.*4007dup)
c.230+11307dup
c.4715dup (p.Asp1572GlufsTer5)
c.4610dup (p.Asp1537GlufsTer5)
c.4601dup (p.Asp1534GlufsTer5)
c.4562dup (p.Asp1521GlufsTer5)
c.4508dup (p.Asp1503GlufsTer5)
c.4412dup (p.Asp1471GlufsTer5)
c.4382dup (p.Asp1461GlufsTer5)
c.4307dup (p.Asp1436GlufsTer5)
c.4205dup (p.Asp1402GlufsTer5)
c.3836dup (p.Asp1279GlufsTer5)
5g.112840279_112840280insGCA1139770843APCc.4739_4740insG (p.Asp1580GlufsTer5)
c.*4691_*4692insG (n.*4691_*4692insG)
c.4631_4632insG (p.Asp1544GlufsTer5)
c.4685_4686insG (p.Asp1562GlufsTer5)
c.*4007_*4008insG (n.*4007_*4008insG)
c.230+11307_230+11308insG
c.4715_4716insG (p.Asp1572GlufsTer5)
c.4610_4611insG (p.Asp1537GlufsTer5)
c.4601_4602insG (p.Asp1534GlufsTer5)
c.4562_4563insG (p.Asp1521GlufsTer5)
c.4508_4509insG (p.Asp1503GlufsTer5)
c.4412_4413insG (p.Asp1471GlufsTer5)
c.4382_4383insG (p.Asp1461GlufsTer5)
c.4307_4308insG (p.Asp1436GlufsTer5)
c.4205_4206insG (p.Asp1402GlufsTer5)
c.3836_3837insG (p.Asp1279GlufsTer5)
5g.112840279_112840280insACCTCA645543973APCc.4739_4740insACCT (p.Asp1580GlufsTer6)
c.*4691_*4692insACCT (n.*4691_*4692insACCT)
c.4631_4632insACCT (p.Asp1544GlufsTer6)
c.4685_4686insACCT (p.Asp1562GlufsTer6)
c.*4007_*4008insACCT (n.*4007_*4008insACCT)
c.230+11307_230+11308insACCT
c.4715_4716insACCT (p.Asp1572GlufsTer6)
c.4610_4611insACCT (p.Asp1537GlufsTer6)
c.4601_4602insACCT (p.Asp1534GlufsTer6)
c.4562_4563insACCT (p.Asp1521GlufsTer6)
c.4508_4509insACCT (p.Asp1503GlufsTer6)
c.4412_4413insACCT (p.Asp1471GlufsTer6)
c.4382_4383insACCT (p.Asp1461GlufsTer6)
c.4307_4308insACCT (p.Asp1436GlufsTer6)
c.4205_4206insACCT (p.Asp1402GlufsTer6)
c.3836_3837insACCT (p.Asp1279GlufsTer6)
 COSMIC
5g.112840280C>ACA16031606APCc.4740C>A (p.Asp1580Glu)
c.*4692C>A (n.*4692C>A)
c.4632C>A (p.Asp1544Glu)
c.4686C>A (p.Asp1562Glu)
c.*4008C>A (n.*4008C>A)
c.230+11308C>A
c.4716C>A (p.Asp1572Glu)
c.4611C>A (p.Asp1537Glu)
c.4602C>A (p.Asp1534Glu)
c.4563C>A (p.Asp1521Glu)
c.4509C>A (p.Asp1503Glu)
c.4413C>A (p.Asp1471Glu)
c.4383C>A (p.Asp1461Glu)
c.4308C>A (p.Asp1436Glu)
c.4206C>A (p.Asp1402Glu)
c.3837C>A (p.Asp1279Glu)
 gnomAD v4
5g.112840280C=CA1573470837APCc.4740C= (p.Asp1580=)
c.*4692C= (n.*4692C=)
c.4632C= (p.Asp1544=)
c.4686C= (p.Asp1562=)
c.*4008C= (n.*4008C=)
c.230+11308C=
c.4716C= (p.Asp1572=)
c.4611C= (p.Asp1537=)
c.4602C= (p.Asp1534=)
c.4563C= (p.Asp1521=)
c.4509C= (p.Asp1503=)
c.4413C= (p.Asp1471=)
c.4383C= (p.Asp1461=)
c.4308C= (p.Asp1436=)
c.4206C= (p.Asp1402=)
c.3837C= (p.Asp1279=)
5g.112840280C>GCA16031607APCc.4740C>G (p.Asp1580Glu)
c.*4692C>G (n.*4692C>G)
c.4632C>G (p.Asp1544Glu)
c.4686C>G (p.Asp1562Glu)
c.*4008C>G (n.*4008C>G)
c.230+11308C>G
c.4716C>G (p.Asp1572Glu)
c.4611C>G (p.Asp1537Glu)
c.4602C>G (p.Asp1534Glu)
c.4563C>G (p.Asp1521Glu)
c.4509C>G (p.Asp1503Glu)
c.4413C>G (p.Asp1471Glu)
c.4383C>G (p.Asp1461Glu)
c.4308C>G (p.Asp1436Glu)
c.4206C>G (p.Asp1402Glu)
c.3837C>G (p.Asp1279Glu)
5g.112840280C>TCA16604780APCc.4740C>T (p.Asp1580=)
c.*4692C>T (n.*4692C>T)
c.4632C>T (p.Asp1544=)
c.4686C>T (p.Asp1562=)
c.*4008C>T (n.*4008C>T)
c.230+11308C>T
c.4716C>T (p.Asp1572=)
c.4611C>T (p.Asp1537=)
c.4602C>T (p.Asp1534=)
c.4563C>T (p.Asp1521=)
c.4509C>T (p.Asp1503=)
c.4413C>T (p.Asp1471=)
c.4383C>T (p.Asp1461=)
c.4308C>T (p.Asp1436=)
c.4206C>T (p.Asp1402=)
c.3837C>T (p.Asp1279=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840281dupCA2695205304APCc.4741dup (p.Leu1581ProfsTer4)
c.*4693dup (n.*4693dup)
c.4633dup (p.Leu1545ProfsTer4)
c.4687dup (p.Leu1563ProfsTer4)
c.*4009dup (n.*4009dup)
c.230+11309dup
c.4717dup (p.Leu1573ProfsTer4)
c.4612dup (p.Leu1538ProfsTer4)
c.4603dup (p.Leu1535ProfsTer4)
c.4564dup (p.Leu1522ProfsTer4)
c.4510dup (p.Leu1504ProfsTer4)
c.4414dup (p.Leu1472ProfsTer4)
c.4384dup (p.Leu1462ProfsTer4)
c.4309dup (p.Leu1437ProfsTer4)
c.4207dup (p.Leu1403ProfsTer4)
c.3838dup (p.Leu1280ProfsTer4)
5g.112840281delCA2582341341APCc.4741del (p.Leu1581TyrfsTer2)
c.*4693del (n.*4693del)
c.4633del (p.Leu1545TyrfsTer2)
c.4687del (p.Leu1563TyrfsTer2)
c.*4009del (n.*4009del)
c.230+11309del
c.4717del (p.Leu1573TyrfsTer2)
c.4612del (p.Leu1538TyrfsTer2)
c.4603del (p.Leu1535TyrfsTer2)
c.4564del (p.Leu1522TyrfsTer2)
c.4510del (p.Leu1504TyrfsTer2)
c.4414del (p.Leu1472TyrfsTer2)
c.4384del (p.Leu1462TyrfsTer2)
c.4309del (p.Leu1437TyrfsTer2)
c.4207del (p.Leu1403TyrfsTer2)
c.3838del (p.Leu1280TyrfsTer2)
 ClinVar
5g.112840281C>ACA16031608APCc.4741C>A (p.Leu1581Ile)
c.*4693C>A (n.*4693C>A)
c.4633C>A (p.Leu1545Ile)
c.4687C>A (p.Leu1563Ile)
c.*4009C>A (n.*4009C>A)
c.230+11309C>A
c.4717C>A (p.Leu1573Ile)
c.4612C>A (p.Leu1538Ile)
c.4603C>A (p.Leu1535Ile)
c.4564C>A (p.Leu1522Ile)
c.4510C>A (p.Leu1504Ile)
c.4414C>A (p.Leu1472Ile)
c.4384C>A (p.Leu1462Ile)
c.4309C>A (p.Leu1437Ile)
c.4207C>A (p.Leu1403Ile)
c.3838C>A (p.Leu1280Ile)
 dbSNP
5g.112840281C=CA1573470850APCc.4741C= (p.Leu1581=)
c.*4693C= (n.*4693C=)
c.4633C= (p.Leu1545=)
c.4687C= (p.Leu1563=)
c.*4009C= (n.*4009C=)
c.230+11309C=
c.4717C= (p.Leu1573=)
c.4612C= (p.Leu1538=)
c.4603C= (p.Leu1535=)
c.4564C= (p.Leu1522=)
c.4510C= (p.Leu1504=)
c.4414C= (p.Leu1472=)
c.4384C= (p.Leu1462=)
c.4309C= (p.Leu1437=)
c.4207C= (p.Leu1403=)
c.3838C= (p.Leu1280=)
5g.112840281C>GCA16031609APCc.4741C>G (p.Leu1581Val)
c.*4693C>G (n.*4693C>G)
c.4633C>G (p.Leu1545Val)
c.4687C>G (p.Leu1563Val)
c.*4009C>G (n.*4009C>G)
c.230+11309C>G
c.4717C>G (p.Leu1573Val)
c.4612C>G (p.Leu1538Val)
c.4603C>G (p.Leu1535Val)
c.4564C>G (p.Leu1522Val)
c.4510C>G (p.Leu1504Val)
c.4414C>G (p.Leu1472Val)
c.4384C>G (p.Leu1462Val)
c.4309C>G (p.Leu1437Val)
c.4207C>G (p.Leu1403Val)
c.3838C>G (p.Leu1280Val)
 ClinVar dbSNP
5g.112840281C>TCA446206671APCc.4741C>T (p.Leu1581=)
c.*4693C>T (n.*4693C>T)
c.4633C>T (p.Leu1545=)
c.4687C>T (p.Leu1563=)
c.*4009C>T (n.*4009C>T)
c.230+11309C>T
c.4717C>T (p.Leu1573=)
c.4612C>T (p.Leu1538=)
c.4603C>T (p.Leu1535=)
c.4564C>T (p.Leu1522=)
c.4510C>T (p.Leu1504=)
c.4414C>T (p.Leu1472=)
c.4384C>T (p.Leu1462=)
c.4309C>T (p.Leu1437=)
c.4207C>T (p.Leu1403=)
c.3838C>T (p.Leu1280=)
 ClinVar dbSNP
5g.112840282delCA446206672APCc.4742del (p.Leu1581HisfsTer2)
c.*4694del (n.*4694del)
c.4634del (p.Leu1545HisfsTer2)
c.4688del (p.Leu1563HisfsTer2)
c.*4010del (n.*4010del)
c.230+11310del
c.4718del (p.Leu1573HisfsTer2)
c.4613del (p.Leu1538HisfsTer2)
c.4604del (p.Leu1535HisfsTer2)
c.4565del (p.Leu1522HisfsTer2)
c.4511del (p.Leu1504HisfsTer2)
c.4415del (p.Leu1472HisfsTer2)
c.4385del (p.Leu1462HisfsTer2)
c.4310del (p.Leu1437HisfsTer2)
c.4208del (p.Leu1403HisfsTer2)
c.3839del (p.Leu1280HisfsTer2)
 COSMIC
5g.112840282T>ACA16031610APCc.4742T>A (p.Leu1581Gln)
c.*4694T>A (n.*4694T>A)
c.4634T>A (p.Leu1545Gln)
c.4688T>A (p.Leu1563Gln)
c.*4010T>A (n.*4010T>A)
c.230+11310T>A
c.4718T>A (p.Leu1573Gln)
c.4613T>A (p.Leu1538Gln)
c.4604T>A (p.Leu1535Gln)
c.4565T>A (p.Leu1522Gln)
c.4511T>A (p.Leu1504Gln)
c.4415T>A (p.Leu1472Gln)
c.4385T>A (p.Leu1462Gln)
c.4310T>A (p.Leu1437Gln)
c.4208T>A (p.Leu1403Gln)
c.3839T>A (p.Leu1280Gln)
 dbSNP
5g.112840282T>CCA039579APCc.4742T>C (p.Leu1581Pro)
c.*4694T>C (n.*4694T>C)
c.4634T>C (p.Leu1545Pro)
c.4688T>C (p.Leu1563Pro)
c.*4010T>C (n.*4010T>C)
c.230+11310T>C
c.4718T>C (p.Leu1573Pro)
c.4613T>C (p.Leu1538Pro)
c.4604T>C (p.Leu1535Pro)
c.4565T>C (p.Leu1522Pro)
c.4511T>C (p.Leu1504Pro)
c.4415T>C (p.Leu1472Pro)
c.4385T>C (p.Leu1462Pro)
c.4310T>C (p.Leu1437Pro)
c.4208T>C (p.Leu1403Pro)
c.3839T>C (p.Leu1280Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840282T>GCA16031611APCc.4742T>G (p.Leu1581Arg)
c.*4694T>G (n.*4694T>G)
c.4634T>G (p.Leu1545Arg)
c.4688T>G (p.Leu1563Arg)
c.*4010T>G (n.*4010T>G)
c.230+11310T>G
c.4718T>G (p.Leu1573Arg)
c.4613T>G (p.Leu1538Arg)
c.4604T>G (p.Leu1535Arg)
c.4565T>G (p.Leu1522Arg)
c.4511T>G (p.Leu1504Arg)
c.4415T>G (p.Leu1472Arg)
c.4385T>G (p.Leu1462Arg)
c.4310T>G (p.Leu1437Arg)
c.4208T>G (p.Leu1403Arg)
c.3839T>G (p.Leu1280Arg)
5g.112840282T=CA1573470871APCc.4742T= (p.Leu1581=)
c.*4694T= (n.*4694T=)
c.4634T= (p.Leu1545=)
c.4688T= (p.Leu1563=)
c.*4010T= (n.*4010T=)
c.230+11310T=
c.4718T= (p.Leu1573=)
c.4613T= (p.Leu1538=)
c.4604T= (p.Leu1535=)
c.4565T= (p.Leu1522=)
c.4511T= (p.Leu1504=)
c.4415T= (p.Leu1472=)
c.4385T= (p.Leu1462=)
c.4310T= (p.Leu1437=)
c.4208T= (p.Leu1403=)
c.3839T= (p.Leu1280=)
5g.112840282dupCA2580072556APCc.4742dup (p.Leu1582IlefsTer3)
c.*4694dup (n.*4694dup)
c.4634dup (p.Leu1546IlefsTer3)
c.4688dup (p.Leu1564IlefsTer3)
c.*4010dup (n.*4010dup)
c.230+11310dup
c.4718dup (p.Leu1574IlefsTer3)
c.4613dup (p.Leu1539IlefsTer3)
c.4604dup (p.Leu1536IlefsTer3)
c.4565dup (p.Leu1523IlefsTer3)
c.4511dup (p.Leu1505IlefsTer3)
c.4415dup (p.Leu1473IlefsTer3)
c.4385dup (p.Leu1463IlefsTer3)
c.4310dup (p.Leu1438IlefsTer3)
c.4208dup (p.Leu1404IlefsTer3)
c.3839dup (p.Leu1281IlefsTer3)
 ClinVar
5g.112840283_112840289delCA2582341343APCc.4743_4749del (p.Leu1582IlefsTer10)
c.*4695_*4701del (n.*4695_*4701del)
c.4635_4641del (p.Leu1546IlefsTer10)
c.4689_4695del (p.Leu1564IlefsTer10)
c.*4011_*4017del (n.*4011_*4017del)
c.230+11311_230+11317del
c.4719_4725del (p.Leu1574IlefsTer10)
c.4614_4620del (p.Leu1539IlefsTer10)
c.4605_4611del (p.Leu1536IlefsTer10)
c.4566_4572del (p.Leu1523IlefsTer10)
c.4512_4518del (p.Leu1505IlefsTer10)
c.4416_4422del (p.Leu1473IlefsTer10)
c.4386_4392del (p.Leu1463IlefsTer10)
c.4311_4317del (p.Leu1438IlefsTer10)
c.4209_4215del (p.Leu1404IlefsTer10)
c.3840_3846del (p.Leu1281IlefsTer10)
 ClinVar
5g.112840283_112840298delCA658760774APCc.4743_4758del (p.Leu1582MetfsTer7)
c.*4695_*4710del (n.*4695_*4710del)
c.4635_4650del (p.Leu1546MetfsTer7)
c.4689_4704del (p.Leu1564MetfsTer7)
c.*4011_*4026del (n.*4011_*4026del)
c.230+11311_230+11326del
c.4719_4734del (p.Leu1574MetfsTer7)
c.4614_4629del (p.Leu1539MetfsTer7)
c.4605_4620del (p.Leu1536MetfsTer7)
c.4566_4581del (p.Leu1523MetfsTer7)
c.4512_4527del (p.Leu1505MetfsTer7)
c.4416_4431del (p.Leu1473MetfsTer7)
c.4386_4401del (p.Leu1463MetfsTer7)
c.4311_4326del (p.Leu1438MetfsTer7)
c.4209_4224del (p.Leu1404MetfsTer7)
c.3840_3855del (p.Leu1281MetfsTer7)
5g.112840283A=CA1573470879APCc.4743A= (p.Leu1581=)
c.*4695A= (n.*4695A=)
c.4635A= (p.Leu1545=)
c.4689A= (p.Leu1563=)
c.*4011A= (n.*4011A=)
c.230+11311A=
c.4719A= (p.Leu1573=)
c.4614A= (p.Leu1538=)
c.4605A= (p.Leu1535=)
c.4566A= (p.Leu1522=)
c.4512A= (p.Leu1504=)
c.4416A= (p.Leu1472=)
c.4386A= (p.Leu1462=)
c.4311A= (p.Leu1437=)
c.4209A= (p.Leu1403=)
c.3840A= (p.Leu1280=)
5g.112840283A>CCA446206675APCc.4743A>C (p.Leu1581=)
c.*4695A>C (n.*4695A>C)
c.4635A>C (p.Leu1545=)
c.4689A>C (p.Leu1563=)
c.*4011A>C (n.*4011A>C)
c.230+11311A>C
c.4719A>C (p.Leu1573=)
c.4614A>C (p.Leu1538=)
c.4605A>C (p.Leu1535=)
c.4566A>C (p.Leu1522=)
c.4512A>C (p.Leu1504=)
c.4416A>C (p.Leu1472=)
c.4386A>C (p.Leu1462=)
c.4311A>C (p.Leu1437=)
c.4209A>C (p.Leu1403=)
c.3840A>C (p.Leu1280=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840283A>GCA446206673APCc.4743A>G (p.Leu1581=)
c.*4695A>G (n.*4695A>G)
c.4635A>G (p.Leu1545=)
c.4689A>G (p.Leu1563=)
c.*4011A>G (n.*4011A>G)
c.230+11311A>G
c.4719A>G (p.Leu1573=)
c.4614A>G (p.Leu1538=)
c.4605A>G (p.Leu1535=)
c.4566A>G (p.Leu1522=)
c.4512A>G (p.Leu1504=)
c.4416A>G (p.Leu1472=)
c.4386A>G (p.Leu1462=)
c.4311A>G (p.Leu1437=)
c.4209A>G (p.Leu1403=)
c.3840A>G (p.Leu1280=)
 ClinVar dbSNP gnomAD v4
5g.112840283A>TCA446206674APCc.4743A>T (p.Leu1581=)
c.*4695A>T (n.*4695A>T)
c.4635A>T (p.Leu1545=)
c.4689A>T (p.Leu1563=)
c.*4011A>T (n.*4011A>T)
c.230+11311A>T
c.4719A>T (p.Leu1573=)
c.4614A>T (p.Leu1538=)
c.4605A>T (p.Leu1535=)
c.4566A>T (p.Leu1522=)
c.4512A>T (p.Leu1504=)
c.4416A>T (p.Leu1472=)
c.4386A>T (p.Leu1462=)
c.4311A>T (p.Leu1437=)
c.4209A>T (p.Leu1403=)
c.3840A>T (p.Leu1280=)
5g.112840283_112840286delCA2582341344APCc.4743_4746del (p.Leu1582MetfsTer11)
c.*4695_*4698del (n.*4695_*4698del)
c.4635_4638del (p.Leu1546MetfsTer11)
c.4689_4692del (p.Leu1564MetfsTer11)
c.*4011_*4014del (n.*4011_*4014del)
c.230+11311_230+11314del
c.4719_4722del (p.Leu1574MetfsTer11)
c.4614_4617del (p.Leu1539MetfsTer11)
c.4605_4608del (p.Leu1536MetfsTer11)
c.4566_4569del (p.Leu1523MetfsTer11)
c.4512_4515del (p.Leu1505MetfsTer11)
c.4416_4419del (p.Leu1473MetfsTer11)
c.4386_4389del (p.Leu1463MetfsTer11)
c.4311_4314del (p.Leu1438MetfsTer11)
c.4209_4212del (p.Leu1404MetfsTer11)
c.3840_3843del (p.Leu1281MetfsTer11)
 ClinVar
5g.112840284T>ACA16031612APCc.4744T>A (p.Leu1582Ile)
c.*4696T>A (n.*4696T>A)
c.4636T>A (p.Leu1546Ile)
c.4690T>A (p.Leu1564Ile)
c.*4012T>A (n.*4012T>A)
c.230+11312T>A
c.4720T>A (p.Leu1574Ile)
c.4615T>A (p.Leu1539Ile)
c.4606T>A (p.Leu1536Ile)
c.4567T>A (p.Leu1523Ile)
c.4513T>A (p.Leu1505Ile)
c.4417T>A (p.Leu1473Ile)
c.4387T>A (p.Leu1463Ile)
c.4312T>A (p.Leu1438Ile)
c.4210T>A (p.Leu1404Ile)
c.3841T>A (p.Leu1281Ile)
 dbSNP
5g.112840284T>CCA16611830APCc.4744T>C (p.Leu1582=)
c.*4696T>C (n.*4696T>C)
c.4636T>C (p.Leu1546=)
c.4690T>C (p.Leu1564=)
c.*4012T>C (n.*4012T>C)
c.230+11312T>C
c.4720T>C (p.Leu1574=)
c.4615T>C (p.Leu1539=)
c.4606T>C (p.Leu1536=)
c.4567T>C (p.Leu1523=)
c.4513T>C (p.Leu1505=)
c.4417T>C (p.Leu1473=)
c.4387T>C (p.Leu1463=)
c.4312T>C (p.Leu1438=)
c.4210T>C (p.Leu1404=)
c.3841T>C (p.Leu1281=)
 ClinVar dbSNP gnomAD v4
5g.112840284T>GCA16031613APCc.4744T>G (p.Leu1582Val)
c.*4696T>G (n.*4696T>G)
c.4636T>G (p.Leu1546Val)
c.4690T>G (p.Leu1564Val)
c.*4012T>G (n.*4012T>G)
c.230+11312T>G
c.4720T>G (p.Leu1574Val)
c.4615T>G (p.Leu1539Val)
c.4606T>G (p.Leu1536Val)
c.4567T>G (p.Leu1523Val)
c.4513T>G (p.Leu1505Val)
c.4417T>G (p.Leu1473Val)
c.4387T>G (p.Leu1463Val)
c.4312T>G (p.Leu1438Val)
c.4210T>G (p.Leu1404Val)
c.3841T>G (p.Leu1281Val)
 dbSNP
5g.112840284T=CA1573470889APCc.4744T= (p.Leu1582=)
c.*4696T= (n.*4696T=)
c.4636T= (p.Leu1546=)
c.4690T= (p.Leu1564=)
c.*4012T= (n.*4012T=)
c.230+11312T=
c.4720T= (p.Leu1574=)
c.4615T= (p.Leu1539=)
c.4606T= (p.Leu1536=)
c.4567T= (p.Leu1523=)
c.4513T= (p.Leu1505=)
c.4417T= (p.Leu1473=)
c.4387T= (p.Leu1463=)
c.4312T= (p.Leu1438=)
c.4210T= (p.Leu1404=)
c.3841T= (p.Leu1281=)
5g.112840285dupCA645543974APCc.4745dup (p.Leu1582PhefsTer3)
c.*4697dup (n.*4697dup)
c.4637dup (p.Leu1546PhefsTer3)
c.4691dup (p.Leu1564PhefsTer3)
c.*4013dup (n.*4013dup)
c.230+11313dup
c.4721dup (p.Leu1574PhefsTer3)
c.4616dup (p.Leu1539PhefsTer3)
c.4607dup (p.Leu1536PhefsTer3)
c.4568dup (p.Leu1523PhefsTer3)
c.4514dup (p.Leu1505PhefsTer3)
c.4418dup (p.Leu1473PhefsTer3)
c.4388dup (p.Leu1463PhefsTer3)
c.4313dup (p.Leu1438PhefsTer3)
c.4211dup (p.Leu1404PhefsTer3)
c.3842dup (p.Leu1281PhefsTer3)
 COSMIC
5g.112840285T>ACA16031614APCc.4745T>A (p.Leu1582Ter)
c.*4697T>A (n.*4697T>A)
c.4637T>A (p.Leu1546Ter)
c.4691T>A (p.Leu1564Ter)
c.*4013T>A (n.*4013T>A)
c.230+11313T>A
c.4721T>A (p.Leu1574Ter)
c.4616T>A (p.Leu1539Ter)
c.4607T>A (p.Leu1536Ter)
c.4568T>A (p.Leu1523Ter)
c.4514T>A (p.Leu1505Ter)
c.4418T>A (p.Leu1473Ter)
c.4388T>A (p.Leu1463Ter)
c.4313T>A (p.Leu1438Ter)
c.4211T>A (p.Leu1404Ter)
c.3842T>A (p.Leu1281Ter)
 ClinVar COSMIC
5g.112840285T>CCA16031615APCc.4745T>C (p.Leu1582Ser)
c.*4697T>C (n.*4697T>C)
c.4637T>C (p.Leu1546Ser)
c.4691T>C (p.Leu1564Ser)
c.*4013T>C (n.*4013T>C)
c.230+11313T>C
c.4721T>C (p.Leu1574Ser)
c.4616T>C (p.Leu1539Ser)
c.4607T>C (p.Leu1536Ser)
c.4568T>C (p.Leu1523Ser)
c.4514T>C (p.Leu1505Ser)
c.4418T>C (p.Leu1473Ser)
c.4388T>C (p.Leu1463Ser)
c.4313T>C (p.Leu1438Ser)
c.4211T>C (p.Leu1404Ser)
c.3842T>C (p.Leu1281Ser)
5g.112840285T>GCA16031616APCc.4745T>G (p.Leu1582Ter)
c.*4697T>G (n.*4697T>G)
c.4637T>G (p.Leu1546Ter)
c.4691T>G (p.Leu1564Ter)
c.*4013T>G (n.*4013T>G)
c.230+11313T>G
c.4721T>G (p.Leu1574Ter)
c.4616T>G (p.Leu1539Ter)
c.4607T>G (p.Leu1536Ter)
c.4568T>G (p.Leu1523Ter)
c.4514T>G (p.Leu1505Ter)
c.4418T>G (p.Leu1473Ter)
c.4388T>G (p.Leu1463Ter)
c.4313T>G (p.Leu1438Ter)
c.4211T>G (p.Leu1404Ter)
c.3842T>G (p.Leu1281Ter)
 ClinVar dbSNP COSMIC
5g.112840286_112840289delCA2580072557APCc.4746_4749del (p.Asp1583IlefsTer10)
c.*4698_*4701del (n.*4698_*4701del)
c.4638_4641del (p.Asp1547IlefsTer10)
c.4692_4695del (p.Asp1565IlefsTer10)
c.*4014_*4017del (n.*4014_*4017del)
c.230+11314_230+11317del
c.4722_4725del (p.Asp1575IlefsTer10)
c.4617_4620del (p.Asp1540IlefsTer10)
c.4608_4611del (p.Asp1537IlefsTer10)
c.4569_4572del (p.Asp1524IlefsTer10)
c.4515_4518del (p.Asp1506IlefsTer10)
c.4419_4422del (p.Asp1474IlefsTer10)
c.4389_4392del (p.Asp1464IlefsTer10)
c.4314_4317del (p.Asp1439IlefsTer10)
c.4212_4215del (p.Asp1405IlefsTer10)
c.3843_3846del (p.Asp1282IlefsTer10)
 ClinVar
5g.112840286A=CA1573470896APCc.4746A= (p.Leu1582=)
c.*4698A= (n.*4698A=)
c.4638A= (p.Leu1546=)
c.4692A= (p.Leu1564=)
c.*4014A= (n.*4014A=)
c.230+11314A=
c.4722A= (p.Leu1574=)
c.4617A= (p.Leu1539=)
c.4608A= (p.Leu1536=)
c.4569A= (p.Leu1523=)
c.4515A= (p.Leu1505=)
c.4419A= (p.Leu1473=)
c.4389A= (p.Leu1463=)
c.4314A= (p.Leu1438=)
c.4212A= (p.Leu1404=)
c.3843A= (p.Leu1281=)
5g.112840286A>CCA16031617APCc.4746A>C (p.Leu1582Phe)
c.*4698A>C (n.*4698A>C)
c.4638A>C (p.Leu1546Phe)
c.4692A>C (p.Leu1564Phe)
c.*4014A>C (n.*4014A>C)
c.230+11314A>C
c.4722A>C (p.Leu1574Phe)
c.4617A>C (p.Leu1539Phe)
c.4608A>C (p.Leu1536Phe)
c.4569A>C (p.Leu1523Phe)
c.4515A>C (p.Leu1505Phe)
c.4419A>C (p.Leu1473Phe)
c.4389A>C (p.Leu1463Phe)
c.4314A>C (p.Leu1438Phe)
c.4212A>C (p.Leu1404Phe)
c.3843A>C (p.Leu1281Phe)
 ClinVar dbSNP
5g.112840286A>GCA446206676APCc.4746A>G (p.Leu1582=)
c.*4698A>G (n.*4698A>G)
c.4638A>G (p.Leu1546=)
c.4692A>G (p.Leu1564=)
c.*4014A>G (n.*4014A>G)
c.230+11314A>G
c.4722A>G (p.Leu1574=)
c.4617A>G (p.Leu1539=)
c.4608A>G (p.Leu1536=)
c.4569A>G (p.Leu1523=)
c.4515A>G (p.Leu1505=)
c.4419A>G (p.Leu1473=)
c.4389A>G (p.Leu1463=)
c.4314A>G (p.Leu1438=)
c.4212A>G (p.Leu1404=)
c.3843A>G (p.Leu1281=)
5g.112840286A>TCA16031618APCc.4746A>T (p.Leu1582Phe)
c.*4698A>T (n.*4698A>T)
c.4638A>T (p.Leu1546Phe)
c.4692A>T (p.Leu1564Phe)
c.*4014A>T (n.*4014A>T)
c.230+11314A>T
c.4722A>T (p.Leu1574Phe)
c.4617A>T (p.Leu1539Phe)
c.4608A>T (p.Leu1536Phe)
c.4569A>T (p.Leu1523Phe)
c.4515A>T (p.Leu1505Phe)
c.4419A>T (p.Leu1473Phe)
c.4389A>T (p.Leu1463Phe)
c.4314A>T (p.Leu1438Phe)
c.4212A>T (p.Leu1404Phe)
c.3843A>T (p.Leu1281Phe)
5g.112840287G>ACA16031619APCc.4747G>A (p.Asp1583Asn)
c.*4699G>A (n.*4699G>A)
c.4639G>A (p.Asp1547Asn)
c.4693G>A (p.Asp1565Asn)
c.*4015G>A (n.*4015G>A)
c.230+11315G>A
c.4723G>A (p.Asp1575Asn)
c.4618G>A (p.Asp1540Asn)
c.4609G>A (p.Asp1537Asn)
c.4570G>A (p.Asp1524Asn)
c.4516G>A (p.Asp1506Asn)
c.4420G>A (p.Asp1474Asn)
c.4390G>A (p.Asp1464Asn)
c.4315G>A (p.Asp1439Asn)
c.4213G>A (p.Asp1405Asn)
c.3844G>A (p.Asp1282Asn)
 ClinVar dbSNP
5g.112840287G>CCA16031620APCc.4747G>C (p.Asp1583His)
c.*4699G>C (n.*4699G>C)
c.4639G>C (p.Asp1547His)
c.4693G>C (p.Asp1565His)
c.*4015G>C (n.*4015G>C)
c.230+11315G>C
c.4723G>C (p.Asp1575His)
c.4618G>C (p.Asp1540His)
c.4609G>C (p.Asp1537His)
c.4570G>C (p.Asp1524His)
c.4516G>C (p.Asp1506His)
c.4420G>C (p.Asp1474His)
c.4390G>C (p.Asp1464His)
c.4315G>C (p.Asp1439His)
c.4213G>C (p.Asp1405His)
c.3844G>C (p.Asp1282His)
 ClinVar dbSNP
5g.112840287G=CA1573470907APCc.4747G= (p.Asp1583=)
c.*4699G= (n.*4699G=)
c.4639G= (p.Asp1547=)
c.4693G= (p.Asp1565=)
c.*4015G= (n.*4015G=)
c.230+11315G=
c.4723G= (p.Asp1575=)
c.4618G= (p.Asp1540=)
c.4609G= (p.Asp1537=)
c.4570G= (p.Asp1524=)
c.4516G= (p.Asp1506=)
c.4420G= (p.Asp1474=)
c.4390G= (p.Asp1464=)
c.4315G= (p.Asp1439=)
c.4213G= (p.Asp1405=)
c.3844G= (p.Asp1282=)
5g.112840287G>TCA039605APCc.4747G>T (p.Asp1583Tyr)
c.*4699G>T (n.*4699G>T)
c.4639G>T (p.Asp1547Tyr)
c.4693G>T (p.Asp1565Tyr)
c.*4015G>T (n.*4015G>T)
c.230+11315G>T
c.4723G>T (p.Asp1575Tyr)
c.4618G>T (p.Asp1540Tyr)
c.4609G>T (p.Asp1537Tyr)
c.4570G>T (p.Asp1524Tyr)
c.4516G>T (p.Asp1506Tyr)
c.4420G>T (p.Asp1474Tyr)
c.4390G>T (p.Asp1464Tyr)
c.4315G>T (p.Asp1439Tyr)
c.4213G>T (p.Asp1405Tyr)
c.3844G>T (p.Asp1282Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840293_112840307delCA2710001260APCc.4753_4767del (p.Ser1585_Asp1589del)
c.*4705_*4719del (n.*4705_*4719del)
c.4645_4659del (p.Ser1549_Asp1553del)
c.4699_4713del (p.Ser1567_Asp1571del)
c.*4021_*4035del (n.*4021_*4035del)
c.230+11321_230+11335del
c.4729_4743del (p.Ser1577_Asp1581del)
c.4624_4638del (p.Ser1542_Asp1546del)
c.4615_4629del (p.Ser1539_Asp1543del)
c.4576_4590del (p.Ser1526_Asp1530del)
c.4522_4536del (p.Ser1508_Asp1512del)
c.4426_4440del (p.Ser1476_Asp1480del)
c.4396_4410del (p.Ser1466_Asp1470del)
c.4321_4335del (p.Ser1441_Asp1445del)
c.4219_4233del (p.Ser1407_Asp1411del)
c.3850_3864del (p.Ser1284_Asp1288del)
 dbSNP
5g.112840288A=CA1573470921APCc.4748A= (p.Asp1583=)
c.*4700A= (n.*4700A=)
c.4640A= (p.Asp1547=)
c.4694A= (p.Asp1565=)
c.*4016A= (n.*4016A=)
c.230+11316A=
c.4724A= (p.Asp1575=)
c.4619A= (p.Asp1540=)
c.4610A= (p.Asp1537=)
c.4571A= (p.Asp1524=)
c.4517A= (p.Asp1506=)
c.4421A= (p.Asp1474=)
c.4391A= (p.Asp1464=)
c.4316A= (p.Asp1439=)
c.4214A= (p.Asp1405=)
c.3845A= (p.Asp1282=)
5g.112840288A>CCA16031621APCc.4748A>C (p.Asp1583Ala)
c.*4700A>C (n.*4700A>C)
c.4640A>C (p.Asp1547Ala)
c.4694A>C (p.Asp1565Ala)
c.*4016A>C (n.*4016A>C)
c.230+11316A>C
c.4724A>C (p.Asp1575Ala)
c.4619A>C (p.Asp1540Ala)
c.4610A>C (p.Asp1537Ala)
c.4571A>C (p.Asp1524Ala)
c.4517A>C (p.Asp1506Ala)
c.4421A>C (p.Asp1474Ala)
c.4391A>C (p.Asp1464Ala)
c.4316A>C (p.Asp1439Ala)
c.4214A>C (p.Asp1405Ala)
c.3845A>C (p.Asp1282Ala)
5g.112840288A>GCA16031622APCc.4748A>G (p.Asp1583Gly)
c.*4700A>G (n.*4700A>G)
c.4640A>G (p.Asp1547Gly)
c.4694A>G (p.Asp1565Gly)
c.*4016A>G (n.*4016A>G)
c.230+11316A>G
c.4724A>G (p.Asp1575Gly)
c.4619A>G (p.Asp1540Gly)
c.4610A>G (p.Asp1537Gly)
c.4571A>G (p.Asp1524Gly)
c.4517A>G (p.Asp1506Gly)
c.4421A>G (p.Asp1474Gly)
c.4391A>G (p.Asp1464Gly)
c.4316A>G (p.Asp1439Gly)
c.4214A>G (p.Asp1405Gly)
c.3845A>G (p.Asp1282Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840288A>TCA16031623APCc.4748A>T (p.Asp1583Val)
c.*4700A>T (n.*4700A>T)
c.4640A>T (p.Asp1547Val)
c.4694A>T (p.Asp1565Val)
c.*4016A>T (n.*4016A>T)
c.230+11316A>T
c.4724A>T (p.Asp1575Val)
c.4619A>T (p.Asp1540Val)
c.4610A>T (p.Asp1537Val)
c.4571A>T (p.Asp1524Val)
c.4517A>T (p.Asp1506Val)
c.4421A>T (p.Asp1474Val)
c.4391A>T (p.Asp1464Val)
c.4316A>T (p.Asp1439Val)
c.4214A>T (p.Asp1405Val)
c.3845A>T (p.Asp1282Val)
 dbSNP
5g.112840289T>ACA16031624APCc.4749T>A (p.Asp1583Glu)
c.*4701T>A (n.*4701T>A)
c.4641T>A (p.Asp1547Glu)
c.4695T>A (p.Asp1565Glu)
c.*4017T>A (n.*4017T>A)
c.230+11317T>A
c.4725T>A (p.Asp1575Glu)
c.4620T>A (p.Asp1540Glu)
c.4611T>A (p.Asp1537Glu)
c.4572T>A (p.Asp1524Glu)
c.4518T>A (p.Asp1506Glu)
c.4422T>A (p.Asp1474Glu)
c.4392T>A (p.Asp1464Glu)
c.4317T>A (p.Asp1439Glu)
c.4215T>A (p.Asp1405Glu)
c.3846T>A (p.Asp1282Glu)
 dbSNP
5g.112840289T>CCA446206677APCc.4749T>C (p.Asp1583=)
c.*4701T>C (n.*4701T>C)
c.4641T>C (p.Asp1547=)
c.4695T>C (p.Asp1565=)
c.*4017T>C (n.*4017T>C)
c.230+11317T>C
c.4725T>C (p.Asp1575=)
c.4620T>C (p.Asp1540=)
c.4611T>C (p.Asp1537=)
c.4572T>C (p.Asp1524=)
c.4518T>C (p.Asp1506=)
c.4422T>C (p.Asp1474=)
c.4392T>C (p.Asp1464=)
c.4317T>C (p.Asp1439=)
c.4215T>C (p.Asp1405=)
c.3846T>C (p.Asp1282=)
 ClinVar dbSNP gnomAD v4
5g.112840289T>GCA16031625APCc.4749T>G (p.Asp1583Glu)
c.*4701T>G (n.*4701T>G)
c.4641T>G (p.Asp1547Glu)
c.4695T>G (p.Asp1565Glu)
c.*4017T>G (n.*4017T>G)
c.230+11317T>G
c.4725T>G (p.Asp1575Glu)
c.4620T>G (p.Asp1540Glu)
c.4611T>G (p.Asp1537Glu)
c.4572T>G (p.Asp1524Glu)
c.4518T>G (p.Asp1506Glu)
c.4422T>G (p.Asp1474Glu)
c.4392T>G (p.Asp1464Glu)
c.4317T>G (p.Asp1439Glu)
c.4215T>G (p.Asp1405Glu)
c.3846T>G (p.Asp1282Glu)
 dbSNP
5g.112840289T=CA1573470937APCc.4749T= (p.Asp1583=)
c.*4701T= (n.*4701T=)
c.4641T= (p.Asp1547=)
c.4695T= (p.Asp1565=)
c.*4017T= (n.*4017T=)
c.230+11317T=
c.4725T= (p.Asp1575=)
c.4620T= (p.Asp1540=)
c.4611T= (p.Asp1537=)
c.4572T= (p.Asp1524=)
c.4518T= (p.Asp1506=)
c.4422T= (p.Asp1474=)
c.4392T= (p.Asp1464=)
c.4317T= (p.Asp1439=)
c.4215T= (p.Asp1405=)
c.3846T= (p.Asp1282=)
5g.112840290G>ACA16031626APCc.4750G>A (p.Asp1584Asn)
c.*4702G>A (n.*4702G>A)
c.4642G>A (p.Asp1548Asn)
c.4696G>A (p.Asp1566Asn)
c.*4018G>A (n.*4018G>A)
c.230+11318G>A
c.4726G>A (p.Asp1576Asn)
c.4621G>A (p.Asp1541Asn)
c.4612G>A (p.Asp1538Asn)
c.4573G>A (p.Asp1525Asn)
c.4519G>A (p.Asp1507Asn)
c.4423G>A (p.Asp1475Asn)
c.4393G>A (p.Asp1465Asn)
c.4318G>A (p.Asp1440Asn)
c.4216G>A (p.Asp1406Asn)
c.3847G>A (p.Asp1283Asn)
 ClinVar dbSNP COSMIC
5g.112840290G>CCA16031627APCc.4750G>C (p.Asp1584His)
c.*4702G>C (n.*4702G>C)
c.4642G>C (p.Asp1548His)
c.4696G>C (p.Asp1566His)
c.*4018G>C (n.*4018G>C)
c.230+11318G>C
c.4726G>C (p.Asp1576His)
c.4621G>C (p.Asp1541His)
c.4612G>C (p.Asp1538His)
c.4573G>C (p.Asp1525His)
c.4519G>C (p.Asp1507His)
c.4423G>C (p.Asp1475His)
c.4393G>C (p.Asp1465His)
c.4318G>C (p.Asp1440His)
c.4216G>C (p.Asp1406His)
c.3847G>C (p.Asp1283His)
 ClinVar dbSNP
5g.112840290G=CA1573470938APCc.4750G= (p.Asp1584=)
c.*4702G= (n.*4702G=)
c.4642G= (p.Asp1548=)
c.4696G= (p.Asp1566=)
c.*4018G= (n.*4018G=)
c.230+11318G=
c.4726G= (p.Asp1576=)
c.4621G= (p.Asp1541=)
c.4612G= (p.Asp1538=)
c.4573G= (p.Asp1525=)
c.4519G= (p.Asp1507=)
c.4423G= (p.Asp1475=)
c.4393G= (p.Asp1465=)
c.4318G= (p.Asp1440=)
c.4216G= (p.Asp1406=)
c.3847G= (p.Asp1283=)
5g.112840290G>TCA16031628APCc.4750G>T (p.Asp1584Tyr)
c.*4702G>T (n.*4702G>T)
c.4642G>T (p.Asp1548Tyr)
c.4696G>T (p.Asp1566Tyr)
c.*4018G>T (n.*4018G>T)
c.230+11318G>T
c.4726G>T (p.Asp1576Tyr)
c.4621G>T (p.Asp1541Tyr)
c.4612G>T (p.Asp1538Tyr)
c.4573G>T (p.Asp1525Tyr)
c.4519G>T (p.Asp1507Tyr)
c.4423G>T (p.Asp1475Tyr)
c.4393G>T (p.Asp1465Tyr)
c.4318G>T (p.Asp1440Tyr)
c.4216G>T (p.Asp1406Tyr)
c.3847G>T (p.Asp1283Tyr)
 dbSNP COSMIC
5g.112840291A>CCA16031629APCc.4751A>C (p.Asp1584Ala)
c.*4703A>C (n.*4703A>C)
c.4643A>C (p.Asp1548Ala)
c.4697A>C (p.Asp1566Ala)
c.*4019A>C (n.*4019A>C)
c.230+11319A>C
c.4727A>C (p.Asp1576Ala)
c.4622A>C (p.Asp1541Ala)
c.4613A>C (p.Asp1538Ala)
c.4574A>C (p.Asp1525Ala)
c.4520A>C (p.Asp1507Ala)
c.4424A>C (p.Asp1475Ala)
c.4394A>C (p.Asp1465Ala)
c.4319A>C (p.Asp1440Ala)
c.4217A>C (p.Asp1406Ala)
c.3848A>C (p.Asp1283Ala)
5g.112840291A>GCA16031630APCc.4751A>G (p.Asp1584Gly)
c.*4703A>G (n.*4703A>G)
c.4643A>G (p.Asp1548Gly)
c.4697A>G (p.Asp1566Gly)
c.*4019A>G (n.*4019A>G)
c.230+11319A>G
c.4727A>G (p.Asp1576Gly)
c.4622A>G (p.Asp1541Gly)
c.4613A>G (p.Asp1538Gly)
c.4574A>G (p.Asp1525Gly)
c.4520A>G (p.Asp1507Gly)
c.4424A>G (p.Asp1475Gly)
c.4394A>G (p.Asp1465Gly)
c.4319A>G (p.Asp1440Gly)
c.4217A>G (p.Asp1406Gly)
c.3848A>G (p.Asp1283Gly)
5g.112840291A>TCA16031631APCc.4751A>T (p.Asp1584Val)
c.*4703A>T (n.*4703A>T)
c.4643A>T (p.Asp1548Val)
c.4697A>T (p.Asp1566Val)
c.*4019A>T (n.*4019A>T)
c.230+11319A>T
c.4727A>T (p.Asp1576Val)
c.4622A>T (p.Asp1541Val)
c.4613A>T (p.Asp1538Val)
c.4574A>T (p.Asp1525Val)
c.4520A>T (p.Asp1507Val)
c.4424A>T (p.Asp1475Val)
c.4394A>T (p.Asp1465Val)
c.4319A>T (p.Asp1440Val)
c.4217A>T (p.Asp1406Val)
c.3848A>T (p.Asp1283Val)
5g.112840292T>ACA16031632APCc.4752T>A (p.Asp1584Glu)
c.*4704T>A (n.*4704T>A)
c.4644T>A (p.Asp1548Glu)
c.4698T>A (p.Asp1566Glu)
c.*4020T>A (n.*4020T>A)
c.230+11320T>A
c.4728T>A (p.Asp1576Glu)
c.4623T>A (p.Asp1541Glu)
c.4614T>A (p.Asp1538Glu)
c.4575T>A (p.Asp1525Glu)
c.4521T>A (p.Asp1507Glu)
c.4425T>A (p.Asp1475Glu)
c.4395T>A (p.Asp1465Glu)
c.4320T>A (p.Asp1440Glu)
c.4218T>A (p.Asp1406Glu)
c.3849T>A (p.Asp1283Glu)
 dbSNP
5g.112840292T>CCA446206678APCc.4752T>C (p.Asp1584=)
c.*4704T>C (n.*4704T>C)
c.4644T>C (p.Asp1548=)
c.4698T>C (p.Asp1566=)
c.*4020T>C (n.*4020T>C)
c.230+11320T>C
c.4728T>C (p.Asp1576=)
c.4623T>C (p.Asp1541=)
c.4614T>C (p.Asp1538=)
c.4575T>C (p.Asp1525=)
c.4521T>C (p.Asp1507=)
c.4425T>C (p.Asp1475=)
c.4395T>C (p.Asp1465=)
c.4320T>C (p.Asp1440=)
c.4218T>C (p.Asp1406=)
c.3849T>C (p.Asp1283=)
 dbSNP
5g.112840292T>GCA16031633APCc.4752T>G (p.Asp1584Glu)
c.*4704T>G (n.*4704T>G)
c.4644T>G (p.Asp1548Glu)
c.4698T>G (p.Asp1566Glu)
c.*4020T>G (n.*4020T>G)
c.230+11320T>G
c.4728T>G (p.Asp1576Glu)
c.4623T>G (p.Asp1541Glu)
c.4614T>G (p.Asp1538Glu)
c.4575T>G (p.Asp1525Glu)
c.4521T>G (p.Asp1507Glu)
c.4425T>G (p.Asp1475Glu)
c.4395T>G (p.Asp1465Glu)
c.4320T>G (p.Asp1440Glu)
c.4218T>G (p.Asp1406Glu)
c.3849T>G (p.Asp1283Glu)
 dbSNP
5g.112840293T>ACA16031634APCc.4753T>A (p.Ser1585Thr)
c.*4705T>A (n.*4705T>A)
c.4645T>A (p.Ser1549Thr)
c.4699T>A (p.Ser1567Thr)
c.*4021T>A (n.*4021T>A)
c.230+11321T>A
c.4729T>A (p.Ser1577Thr)
c.4624T>A (p.Ser1542Thr)
c.4615T>A (p.Ser1539Thr)
c.4576T>A (p.Ser1526Thr)
c.4522T>A (p.Ser1508Thr)
c.4426T>A (p.Ser1476Thr)
c.4396T>A (p.Ser1466Thr)
c.4321T>A (p.Ser1441Thr)
c.4219T>A (p.Ser1407Thr)
c.3850T>A (p.Ser1284Thr)
 dbSNP
5g.112840293T>CCA16031635APCc.4753T>C (p.Ser1585Pro)
c.*4705T>C (n.*4705T>C)
c.4645T>C (p.Ser1549Pro)
c.4699T>C (p.Ser1567Pro)
c.*4021T>C (n.*4021T>C)
c.230+11321T>C
c.4729T>C (p.Ser1577Pro)
c.4624T>C (p.Ser1542Pro)
c.4615T>C (p.Ser1539Pro)
c.4576T>C (p.Ser1526Pro)
c.4522T>C (p.Ser1508Pro)
c.4426T>C (p.Ser1476Pro)
c.4396T>C (p.Ser1466Pro)
c.4321T>C (p.Ser1441Pro)
c.4219T>C (p.Ser1407Pro)
c.3850T>C (p.Ser1284Pro)
5g.112840293T>GCA16031636APCc.4753T>G (p.Ser1585Ala)
c.*4705T>G (n.*4705T>G)
c.4645T>G (p.Ser1549Ala)
c.4699T>G (p.Ser1567Ala)
c.*4021T>G (n.*4021T>G)
c.230+11321T>G
c.4729T>G (p.Ser1577Ala)
c.4624T>G (p.Ser1542Ala)
c.4615T>G (p.Ser1539Ala)
c.4576T>G (p.Ser1526Ala)
c.4522T>G (p.Ser1508Ala)
c.4426T>G (p.Ser1476Ala)
c.4396T>G (p.Ser1466Ala)
c.4321T>G (p.Ser1441Ala)
c.4219T>G (p.Ser1407Ala)
c.3850T>G (p.Ser1284Ala)
5g.112840294C>ACA16031637APCc.4754C>A (p.Ser1585Ter)
c.*4706C>A (n.*4706C>A)
c.4646C>A (p.Ser1549Ter)
c.4700C>A (p.Ser1567Ter)
c.*4022C>A (n.*4022C>A)
c.230+11322C>A
c.4730C>A (p.Ser1577Ter)
c.4625C>A (p.Ser1542Ter)
c.4616C>A (p.Ser1539Ter)
c.4577C>A (p.Ser1526Ter)
c.4523C>A (p.Ser1508Ter)
c.4427C>A (p.Ser1476Ter)
c.4397C>A (p.Ser1466Ter)
c.4322C>A (p.Ser1441Ter)
c.4220C>A (p.Ser1407Ter)
c.3851C>A (p.Ser1284Ter)
 dbSNP COSMIC
5g.112840294C=CA1573470941APCc.4754C= (p.Ser1585=)
c.*4706C= (n.*4706C=)
c.4646C= (p.Ser1549=)
c.4700C= (p.Ser1567=)
c.*4022C= (n.*4022C=)
c.230+11322C=
c.4730C= (p.Ser1577=)
c.4625C= (p.Ser1542=)
c.4616C= (p.Ser1539=)
c.4577C= (p.Ser1526=)
c.4523C= (p.Ser1508=)
c.4427C= (p.Ser1476=)
c.4397C= (p.Ser1466=)
c.4322C= (p.Ser1441=)
c.4220C= (p.Ser1407=)
c.3851C= (p.Ser1284=)
5g.112840294C>GCA16031638APCc.4754C>G (p.Ser1585Ter)
c.*4706C>G (n.*4706C>G)
c.4646C>G (p.Ser1549Ter)
c.4700C>G (p.Ser1567Ter)
c.*4022C>G (n.*4022C>G)
c.230+11322C>G
c.4730C>G (p.Ser1577Ter)
c.4625C>G (p.Ser1542Ter)
c.4616C>G (p.Ser1539Ter)
c.4577C>G (p.Ser1526Ter)
c.4523C>G (p.Ser1508Ter)
c.4427C>G (p.Ser1476Ter)
c.4397C>G (p.Ser1466Ter)
c.4322C>G (p.Ser1441Ter)
c.4220C>G (p.Ser1407Ter)
c.3851C>G (p.Ser1284Ter)
 ClinVar dbSNP COSMIC
5g.112840294C>TCA16031639APCc.4754C>T (p.Ser1585Leu)
c.*4706C>T (n.*4706C>T)
c.4646C>T (p.Ser1549Leu)
c.4700C>T (p.Ser1567Leu)
c.*4022C>T (n.*4022C>T)
c.230+11322C>T
c.4730C>T (p.Ser1577Leu)
c.4625C>T (p.Ser1542Leu)
c.4616C>T (p.Ser1539Leu)
c.4577C>T (p.Ser1526Leu)
c.4523C>T (p.Ser1508Leu)
c.4427C>T (p.Ser1476Leu)
c.4397C>T (p.Ser1466Leu)
c.4322C>T (p.Ser1441Leu)
c.4220C>T (p.Ser1407Leu)
c.3851C>T (p.Ser1284Leu)
 dbSNP
5g.112840294_112840295delinsCACA1573470940APCc.4754_4755delinsCA (p.Ser1585=)
c.*4706_*4707delinsCA (n.*4706_*4707delinsCA)
c.4646_4647delinsCA (p.Ser1549=)
c.4700_4701delinsCA (p.Ser1567=)
c.*4022_*4023delinsCA (n.*4022_*4023delinsCA)
c.230+11322_230+11323delinsCA
c.4730_4731delinsCA (p.Ser1577=)
c.4625_4626delinsCA (p.Ser1542=)
c.4616_4617delinsCA (p.Ser1539=)
c.4577_4578delinsCA (p.Ser1526=)
c.4523_4524delinsCA (p.Ser1508=)
c.4427_4428delinsCA (p.Ser1476=)
c.4397_4398delinsCA (p.Ser1466=)
c.4322_4323delinsCA (p.Ser1441=)
c.4220_4221delinsCA (p.Ser1407=)
c.3851_3852delinsCA (p.Ser1284=)
5g.112840295delCA10582317APCc.4755del (p.Asp1586MetfsTer8)
c.*4707del (n.*4707del)
c.4647del (p.Asp1550MetfsTer8)
c.4701del (p.Asp1568MetfsTer8)
c.*4023del (n.*4023del)
c.230+11323del
c.4731del (p.Asp1578MetfsTer8)
c.4626del (p.Asp1543MetfsTer8)
c.4617del (p.Asp1540MetfsTer8)
c.4578del (p.Asp1527MetfsTer8)
c.4524del (p.Asp1509MetfsTer8)
c.4428del (p.Asp1477MetfsTer8)
c.4398del (p.Asp1467MetfsTer8)
c.4323del (p.Asp1442MetfsTer8)
c.4221del (p.Asp1408MetfsTer8)
c.3852del (p.Asp1285MetfsTer8)
 ClinVar dbSNP
5g.112840295A>CCA446206679APCc.4755A>C (p.Ser1585=)
c.*4707A>C (n.*4707A>C)
c.4647A>C (p.Ser1549=)
c.4701A>C (p.Ser1567=)
c.*4023A>C (n.*4023A>C)
c.230+11323A>C
c.4731A>C (p.Ser1577=)
c.4626A>C (p.Ser1542=)
c.4617A>C (p.Ser1539=)
c.4578A>C (p.Ser1526=)
c.4524A>C (p.Ser1508=)
c.4428A>C (p.Ser1476=)
c.4398A>C (p.Ser1466=)
c.4323A>C (p.Ser1441=)
c.4221A>C (p.Ser1407=)
c.3852A>C (p.Ser1284=)
 gnomAD v4
5g.112840295A>GCA446206680APCc.4755A>G (p.Ser1585=)
c.*4707A>G (n.*4707A>G)
c.4647A>G (p.Ser1549=)
c.4701A>G (p.Ser1567=)
c.*4023A>G (n.*4023A>G)
c.230+11323A>G
c.4731A>G (p.Ser1577=)
c.4626A>G (p.Ser1542=)
c.4617A>G (p.Ser1539=)
c.4578A>G (p.Ser1526=)
c.4524A>G (p.Ser1508=)
c.4428A>G (p.Ser1476=)
c.4398A>G (p.Ser1466=)
c.4323A>G (p.Ser1441=)
c.4221A>G (p.Ser1407=)
c.3852A>G (p.Ser1284=)
 dbSNP
5g.112840295A>TCA446206681APCc.4755A>T (p.Ser1585=)
c.*4707A>T (n.*4707A>T)
c.4647A>T (p.Ser1549=)
c.4701A>T (p.Ser1567=)
c.*4023A>T (n.*4023A>T)
c.230+11323A>T
c.4731A>T (p.Ser1577=)
c.4626A>T (p.Ser1542=)
c.4617A>T (p.Ser1539=)
c.4578A>T (p.Ser1526=)
c.4524A>T (p.Ser1508=)
c.4428A>T (p.Ser1476=)
c.4398A>T (p.Ser1466=)
c.4323A>T (p.Ser1441=)
c.4221A>T (p.Ser1407=)
c.3852A>T (p.Ser1284=)
5g.112840295_112840298delinsAGATCA1573470950APCc.4755_4758delinsAGAT (p.Ser1585=)
c.*4707_*4710delinsAGAT (n.*4707_*4710delinsAGAT)
c.4647_4650delinsAGAT (p.Ser1549=)
c.4701_4704delinsAGAT (p.Ser1567=)
c.*4023_*4026delinsAGAT (n.*4023_*4026delinsAGAT)
c.230+11323_230+11326delinsAGAT
c.4731_4734delinsAGAT (p.Ser1577=)
c.4626_4629delinsAGAT (p.Ser1542=)
c.4617_4620delinsAGAT (p.Ser1539=)
c.4578_4581delinsAGAT (p.Ser1526=)
c.4524_4527delinsAGAT (p.Ser1508=)
c.4428_4431delinsAGAT (p.Ser1476=)
c.4398_4401delinsAGAT (p.Ser1466=)
c.4323_4326delinsAGAT (p.Ser1441=)
c.4221_4224delinsAGAT (p.Ser1407=)
c.3852_3855delinsAGAT (p.Ser1284=)
5g.112840296G>ACA16031640APCc.4756G>A (p.Asp1586Asn)
c.*4708G>A (n.*4708G>A)
c.4648G>A (p.Asp1550Asn)
c.4702G>A (p.Asp1568Asn)
c.*4024G>A (n.*4024G>A)
c.230+11324G>A
c.4732G>A (p.Asp1578Asn)
c.4627G>A (p.Asp1543Asn)
c.4618G>A (p.Asp1540Asn)
c.4579G>A (p.Asp1527Asn)
c.4525G>A (p.Asp1509Asn)
c.4429G>A (p.Asp1477Asn)
c.4399G>A (p.Asp1467Asn)
c.4324G>A (p.Asp1442Asn)
c.4222G>A (p.Asp1408Asn)
c.3853G>A (p.Asp1285Asn)
 ClinVar dbSNP
5g.112840296G>CCA16031641APCc.4756G>C (p.Asp1586His)
c.*4708G>C (n.*4708G>C)
c.4648G>C (p.Asp1550His)
c.4702G>C (p.Asp1568His)
c.*4024G>C (n.*4024G>C)
c.230+11324G>C
c.4732G>C (p.Asp1578His)
c.4627G>C (p.Asp1543His)
c.4618G>C (p.Asp1540His)
c.4579G>C (p.Asp1527His)
c.4525G>C (p.Asp1509His)
c.4429G>C (p.Asp1477His)
c.4399G>C (p.Asp1467His)
c.4324G>C (p.Asp1442His)
c.4222G>C (p.Asp1408His)
c.3853G>C (p.Asp1285His)
 ClinVar dbSNP
5g.112840296G=CA1573470974APCc.4756G= (p.Asp1586=)
c.*4708G= (n.*4708G=)
c.4648G= (p.Asp1550=)
c.4702G= (p.Asp1568=)
c.*4024G= (n.*4024G=)
c.230+11324G=
c.4732G= (p.Asp1578=)
c.4627G= (p.Asp1543=)
c.4618G= (p.Asp1540=)
c.4579G= (p.Asp1527=)
c.4525G= (p.Asp1509=)
c.4429G= (p.Asp1477=)
c.4399G= (p.Asp1467=)
c.4324G= (p.Asp1442=)
c.4222G= (p.Asp1408=)
c.3853G= (p.Asp1285=)
5g.112840296G>TCA16031642APCc.4756G>T (p.Asp1586Tyr)
c.*4708G>T (n.*4708G>T)
c.4648G>T (p.Asp1550Tyr)
c.4702G>T (p.Asp1568Tyr)
c.*4024G>T (n.*4024G>T)
c.230+11324G>T
c.4732G>T (p.Asp1578Tyr)
c.4627G>T (p.Asp1543Tyr)
c.4618G>T (p.Asp1540Tyr)
c.4579G>T (p.Asp1527Tyr)
c.4525G>T (p.Asp1509Tyr)
c.4429G>T (p.Asp1477Tyr)
c.4399G>T (p.Asp1467Tyr)
c.4324G>T (p.Asp1442Tyr)
c.4222G>T (p.Asp1408Tyr)
c.3853G>T (p.Asp1285Tyr)
 dbSNP
5g.112840305_112840307dupCA802020707APCc.4765_4767dup (p.Asp1589_Ile1590insAsp)
c.*4717_*4719dup (n.*4717_*4719dup)
c.4657_4659dup (p.Asp1553_Ile1554insAsp)
c.4711_4713dup (p.Asp1571_Ile1572insAsp)
c.*4033_*4035dup (n.*4033_*4035dup)
c.230+11333_230+11335dup
c.4741_4743dup (p.Asp1581_Ile1582insAsp)
c.4636_4638dup (p.Asp1546_Ile1547insAsp)
c.4627_4629dup (p.Asp1543_Ile1544insAsp)
c.4588_4590dup (p.Asp1530_Ile1531insAsp)
c.4534_4536dup (p.Asp1512_Ile1513insAsp)
c.4438_4440dup (p.Asp1480_Ile1481insAsp)
c.4408_4410dup (p.Asp1470_Ile1471insAsp)
c.4333_4335dup (p.Asp1445_Ile1446insAsp)
c.4231_4233dup (p.Asp1411_Ile1412insAsp)
c.3862_3864dup (p.Asp1288_Ile1289insAsp)
 ClinVar dbSNP gnomAD v4
5g.112840305_112840307delCA009707APCc.4765_4767del (p.Asp1589del)
c.*4717_*4719del (n.*4717_*4719del)
c.4657_4659del (p.Asp1553del)
c.4711_4713del (p.Asp1571del)
c.*4033_*4035del (n.*4033_*4035del)
c.230+11333_230+11335del
c.4741_4743del (p.Asp1581del)
c.4636_4638del (p.Asp1546del)
c.4627_4629del (p.Asp1543del)
c.4588_4590del (p.Asp1530del)
c.4534_4536del (p.Asp1512del)
c.4438_4440del (p.Asp1480del)
c.4408_4410del (p.Asp1470del)
c.4333_4335del (p.Asp1445del)
c.4231_4233del (p.Asp1411del)
c.3862_3864del (p.Asp1288del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840297A=CA1573470993APCc.4757A= (p.Asp1586=)
c.*4709A= (n.*4709A=)
c.4649A= (p.Asp1550=)
c.4703A= (p.Asp1568=)
c.*4025A= (n.*4025A=)
c.230+11325A=
c.4733A= (p.Asp1578=)
c.4628A= (p.Asp1543=)
c.4619A= (p.Asp1540=)
c.4580A= (p.Asp1527=)
c.4526A= (p.Asp1509=)
c.4430A= (p.Asp1477=)
c.4400A= (p.Asp1467=)
c.4325A= (p.Asp1442=)
c.4223A= (p.Asp1408=)
c.3854A= (p.Asp1285=)
5g.112840297A>CCA16031643APCc.4757A>C (p.Asp1586Ala)
c.*4709A>C (n.*4709A>C)
c.4649A>C (p.Asp1550Ala)
c.4703A>C (p.Asp1568Ala)
c.*4025A>C (n.*4025A>C)
c.230+11325A>C
c.4733A>C (p.Asp1578Ala)
c.4628A>C (p.Asp1543Ala)
c.4619A>C (p.Asp1540Ala)
c.4580A>C (p.Asp1527Ala)
c.4526A>C (p.Asp1509Ala)
c.4430A>C (p.Asp1477Ala)
c.4400A>C (p.Asp1467Ala)
c.4325A>C (p.Asp1442Ala)
c.4223A>C (p.Asp1408Ala)
c.3854A>C (p.Asp1285Ala)
5g.112840297A>GCA16031644APCc.4757A>G (p.Asp1586Gly)
c.*4709A>G (n.*4709A>G)
c.4649A>G (p.Asp1550Gly)
c.4703A>G (p.Asp1568Gly)
c.*4025A>G (n.*4025A>G)
c.230+11325A>G
c.4733A>G (p.Asp1578Gly)
c.4628A>G (p.Asp1543Gly)
c.4619A>G (p.Asp1540Gly)
c.4580A>G (p.Asp1527Gly)
c.4526A>G (p.Asp1509Gly)
c.4430A>G (p.Asp1477Gly)
c.4400A>G (p.Asp1467Gly)
c.4325A>G (p.Asp1442Gly)
c.4223A>G (p.Asp1408Gly)
c.3854A>G (p.Asp1285Gly)
 ClinVar dbSNP gnomAD v4
5g.112840297A>TCA16031645APCc.4757A>T (p.Asp1586Val)
c.*4709A>T (n.*4709A>T)
c.4649A>T (p.Asp1550Val)
c.4703A>T (p.Asp1568Val)
c.*4025A>T (n.*4025A>T)
c.230+11325A>T
c.4733A>T (p.Asp1578Val)
c.4628A>T (p.Asp1543Val)
c.4619A>T (p.Asp1540Val)
c.4580A>T (p.Asp1527Val)
c.4526A>T (p.Asp1509Val)
c.4430A>T (p.Asp1477Val)
c.4400A>T (p.Asp1467Val)
c.4325A>T (p.Asp1442Val)
c.4223A>T (p.Asp1408Val)
c.3854A>T (p.Asp1285Val)
 dbSNP
5g.112840297dupCA645543975APCc.4757dup (p.Asp1586GlufsTer2)
c.*4709dup (n.*4709dup)
c.4649dup (p.Asp1550GlufsTer2)
c.4703dup (p.Asp1568GlufsTer2)
c.*4025dup (n.*4025dup)
c.230+11325dup
c.4733dup (p.Asp1578GlufsTer2)
c.4628dup (p.Asp1543GlufsTer2)
c.4619dup (p.Asp1540GlufsTer2)
c.4580dup (p.Asp1527GlufsTer2)
c.4526dup (p.Asp1509GlufsTer2)
c.4430dup (p.Asp1477GlufsTer2)
c.4400dup (p.Asp1467GlufsTer2)
c.4325dup (p.Asp1442GlufsTer2)
c.4223dup (p.Asp1408GlufsTer2)
c.3854dup (p.Asp1285GlufsTer2)
 COSMIC
5g.112840298T>ACA16031646APCc.4758T>A (p.Asp1586Glu)
c.*4710T>A (n.*4710T>A)
c.4650T>A (p.Asp1550Glu)
c.4704T>A (p.Asp1568Glu)
c.*4026T>A (n.*4026T>A)
c.230+11326T>A
c.4734T>A (p.Asp1578Glu)
c.4629T>A (p.Asp1543Glu)
c.4620T>A (p.Asp1540Glu)
c.4581T>A (p.Asp1527Glu)
c.4527T>A (p.Asp1509Glu)
c.4431T>A (p.Asp1477Glu)
c.4401T>A (p.Asp1467Glu)
c.4326T>A (p.Asp1442Glu)
c.4224T>A (p.Asp1408Glu)
c.3855T>A (p.Asp1285Glu)
 dbSNP
5g.112840298T>CCA446206682APCc.4758T>C (p.Asp1586=)
c.*4710T>C (n.*4710T>C)
c.4650T>C (p.Asp1550=)
c.4704T>C (p.Asp1568=)
c.*4026T>C (n.*4026T>C)
c.230+11326T>C
c.4734T>C (p.Asp1578=)
c.4629T>C (p.Asp1543=)
c.4620T>C (p.Asp1540=)
c.4581T>C (p.Asp1527=)
c.4527T>C (p.Asp1509=)
c.4431T>C (p.Asp1477=)
c.4401T>C (p.Asp1467=)
c.4326T>C (p.Asp1442=)
c.4224T>C (p.Asp1408=)
c.3855T>C (p.Asp1285=)
 ClinVar dbSNP gnomAD v4
5g.112840298T>GCA16031647APCc.4758T>G (p.Asp1586Glu)
c.*4710T>G (n.*4710T>G)
c.4650T>G (p.Asp1550Glu)
c.4704T>G (p.Asp1568Glu)
c.*4026T>G (n.*4026T>G)
c.230+11326T>G
c.4734T>G (p.Asp1578Glu)
c.4629T>G (p.Asp1543Glu)
c.4620T>G (p.Asp1540Glu)
c.4581T>G (p.Asp1527Glu)
c.4527T>G (p.Asp1509Glu)
c.4431T>G (p.Asp1477Glu)
c.4401T>G (p.Asp1467Glu)
c.4326T>G (p.Asp1442Glu)
c.4224T>G (p.Asp1408Glu)
c.3855T>G (p.Asp1285Glu)
5g.112840298T=CA1573471000APCc.4758T= (p.Asp1586=)
c.*4710T= (n.*4710T=)
c.4650T= (p.Asp1550=)
c.4704T= (p.Asp1568=)
c.*4026T= (n.*4026T=)
c.230+11326T=
c.4734T= (p.Asp1578=)
c.4629T= (p.Asp1543=)
c.4620T= (p.Asp1540=)
c.4581T= (p.Asp1527=)
c.4527T= (p.Asp1509=)
c.4431T= (p.Asp1477=)
c.4401T= (p.Asp1467=)
c.4326T= (p.Asp1442=)
c.4224T= (p.Asp1408=)
c.3855T= (p.Asp1285=)
5g.112840299G>ACA10578379APCc.4759G>A (p.Asp1587Asn)
c.*4711G>A (n.*4711G>A)
c.4651G>A (p.Asp1551Asn)
c.4705G>A (p.Asp1569Asn)
c.*4027G>A (n.*4027G>A)
c.230+11327G>A
c.4735G>A (p.Asp1579Asn)
c.4630G>A (p.Asp1544Asn)
c.4621G>A (p.Asp1541Asn)
c.4582G>A (p.Asp1528Asn)
c.4528G>A (p.Asp1510Asn)
c.4432G>A (p.Asp1478Asn)
c.4402G>A (p.Asp1468Asn)
c.4327G>A (p.Asp1443Asn)
c.4225G>A (p.Asp1409Asn)
c.3856G>A (p.Asp1286Asn)
 ClinVar dbSNP COSMIC
5g.112840299G>CCA16031648APCc.4759G>C (p.Asp1587His)
c.*4711G>C (n.*4711G>C)
c.4651G>C (p.Asp1551His)
c.4705G>C (p.Asp1569His)
c.*4027G>C (n.*4027G>C)
c.230+11327G>C
c.4735G>C (p.Asp1579His)
c.4630G>C (p.Asp1544His)
c.4621G>C (p.Asp1541His)
c.4582G>C (p.Asp1528His)
c.4528G>C (p.Asp1510His)
c.4432G>C (p.Asp1478His)
c.4402G>C (p.Asp1468His)
c.4327G>C (p.Asp1443His)
c.4225G>C (p.Asp1409His)
c.3856G>C (p.Asp1286His)
 dbSNP
5g.112840299G=CA1573471014APCc.4759G= (p.Asp1587=)
c.*4711G= (n.*4711G=)
c.4651G= (p.Asp1551=)
c.4705G= (p.Asp1569=)
c.*4027G= (n.*4027G=)
c.230+11327G=
c.4735G= (p.Asp1579=)
c.4630G= (p.Asp1544=)
c.4621G= (p.Asp1541=)
c.4582G= (p.Asp1528=)
c.4528G= (p.Asp1510=)
c.4432G= (p.Asp1478=)
c.4402G= (p.Asp1468=)
c.4327G= (p.Asp1443=)
c.4225G= (p.Asp1409=)
c.3856G= (p.Asp1286=)
5g.112840299G>TCA16031649APCc.4759G>T (p.Asp1587Tyr)
c.*4711G>T (n.*4711G>T)
c.4651G>T (p.Asp1551Tyr)
c.4705G>T (p.Asp1569Tyr)
c.*4027G>T (n.*4027G>T)
c.230+11327G>T
c.4735G>T (p.Asp1579Tyr)
c.4630G>T (p.Asp1544Tyr)
c.4621G>T (p.Asp1541Tyr)
c.4582G>T (p.Asp1528Tyr)
c.4528G>T (p.Asp1510Tyr)
c.4432G>T (p.Asp1478Tyr)
c.4402G>T (p.Asp1468Tyr)
c.4327G>T (p.Asp1443Tyr)
c.4225G>T (p.Asp1409Tyr)
c.3856G>T (p.Asp1286Tyr)
 dbSNP
5g.112840299_112840300delCA2697546418APCc.4759_4760del (p.Asp1587Ter)
c.*4711_*4712del (n.*4711_*4712del)
c.4651_4652del (p.Asp1551Ter)
c.4705_4706del (p.Asp1569Ter)
c.*4027_*4028del (n.*4027_*4028del)
c.230+11327_230+11328del
c.4735_4736del (p.Asp1579Ter)
c.4630_4631del (p.Asp1544Ter)
c.4621_4622del (p.Asp1541Ter)
c.4582_4583del (p.Asp1528Ter)
c.4528_4529del (p.Asp1510Ter)
c.4432_4433del (p.Asp1478Ter)
c.4402_4403del (p.Asp1468Ter)
c.4327_4328del (p.Asp1443Ter)
c.4225_4226del (p.Asp1409Ter)
c.3856_3857del (p.Asp1286Ter)
 ClinVar
5g.112840299_112840301delinsGATCA1573471013APCc.4759_4761delinsGAT (p.Asp1587=)
c.*4711_*4713delinsGAT (n.*4711_*4713delinsGAT)
c.4651_4653delinsGAT (p.Asp1551=)
c.4705_4707delinsGAT (p.Asp1569=)
c.*4027_*4029delinsGAT (n.*4027_*4029delinsGAT)
c.230+11327_230+11329delinsGAT
c.4735_4737delinsGAT (p.Asp1579=)
c.4630_4632delinsGAT (p.Asp1544=)
c.4621_4623delinsGAT (p.Asp1541=)
c.4582_4584delinsGAT (p.Asp1528=)
c.4528_4530delinsGAT (p.Asp1510=)
c.4432_4434delinsGAT (p.Asp1478=)
c.4402_4404delinsGAT (p.Asp1468=)
c.4327_4329delinsGAT (p.Asp1443=)
c.4225_4227delinsGAT (p.Asp1409=)
c.3856_3858delinsGAT (p.Asp1286=)
5g.112840300A=CA1573471030APCc.4760A= (p.Asp1587=)
c.*4712A= (n.*4712A=)
c.4652A= (p.Asp1551=)
c.4706A= (p.Asp1569=)
c.*4028A= (n.*4028A=)
c.230+11328A=
c.4736A= (p.Asp1579=)
c.4631A= (p.Asp1544=)
c.4622A= (p.Asp1541=)
c.4583A= (p.Asp1528=)
c.4529A= (p.Asp1510=)
c.4433A= (p.Asp1478=)
c.4403A= (p.Asp1468=)
c.4328A= (p.Asp1443=)
c.4226A= (p.Asp1409=)
c.3857A= (p.Asp1286=)
5g.112840300A>CCA16031650APCc.4760A>C (p.Asp1587Ala)
c.*4712A>C (n.*4712A>C)
c.4652A>C (p.Asp1551Ala)
c.4706A>C (p.Asp1569Ala)
c.*4028A>C (n.*4028A>C)
c.230+11328A>C
c.4736A>C (p.Asp1579Ala)
c.4631A>C (p.Asp1544Ala)
c.4622A>C (p.Asp1541Ala)
c.4583A>C (p.Asp1528Ala)
c.4529A>C (p.Asp1510Ala)
c.4433A>C (p.Asp1478Ala)
c.4403A>C (p.Asp1468Ala)
c.4328A>C (p.Asp1443Ala)
c.4226A>C (p.Asp1409Ala)
c.3857A>C (p.Asp1286Ala)
 COSMIC
5g.112840300A>GCA16031651APCc.4760A>G (p.Asp1587Gly)
c.*4712A>G (n.*4712A>G)
c.4652A>G (p.Asp1551Gly)
c.4706A>G (p.Asp1569Gly)
c.*4028A>G (n.*4028A>G)
c.230+11328A>G
c.4736A>G (p.Asp1579Gly)
c.4631A>G (p.Asp1544Gly)
c.4622A>G (p.Asp1541Gly)
c.4583A>G (p.Asp1528Gly)
c.4529A>G (p.Asp1510Gly)
c.4433A>G (p.Asp1478Gly)
c.4403A>G (p.Asp1468Gly)
c.4328A>G (p.Asp1443Gly)
c.4226A>G (p.Asp1409Gly)
c.3857A>G (p.Asp1286Gly)
 ClinVar dbSNP gnomAD v4
5g.112840300A>TCA16031652APCc.4760A>T (p.Asp1587Val)
c.*4712A>T (n.*4712A>T)
c.4652A>T (p.Asp1551Val)
c.4706A>T (p.Asp1569Val)
c.*4028A>T (n.*4028A>T)
c.230+11328A>T
c.4736A>T (p.Asp1579Val)
c.4631A>T (p.Asp1544Val)
c.4622A>T (p.Asp1541Val)
c.4583A>T (p.Asp1528Val)
c.4529A>T (p.Asp1510Val)
c.4433A>T (p.Asp1478Val)
c.4403A>T (p.Asp1468Val)
c.4328A>T (p.Asp1443Val)
c.4226A>T (p.Asp1409Val)
c.3857A>T (p.Asp1286Val)
 dbSNP
5g.112840300_112840301delCA10578380APCc.4760_4761del (p.Asp1587GlyfsTer2)
c.*4712_*4713del (n.*4712_*4713del)
c.4652_4653del (p.Asp1551GlyfsTer2)
c.4706_4707del (p.Asp1569GlyfsTer2)
c.*4028_*4029del (n.*4028_*4029del)
c.230+11328_230+11329del
c.4736_4737del (p.Asp1579GlyfsTer2)
c.4631_4632del (p.Asp1544GlyfsTer2)
c.4622_4623del (p.Asp1541GlyfsTer2)
c.4583_4584del (p.Asp1528GlyfsTer2)
c.4529_4530del (p.Asp1510GlyfsTer2)
c.4433_4434del (p.Asp1478GlyfsTer2)
c.4403_4404del (p.Asp1468GlyfsTer2)
c.4328_4329del (p.Asp1443GlyfsTer2)
c.4226_4227del (p.Asp1409GlyfsTer2)
c.3857_3858del (p.Asp1286GlyfsTer2)
 ClinVar dbSNP
5g.112840301delCA658760776APCc.4761del (p.Asp1587GlufsTer7)
c.*4713del (n.*4713del)
c.4653del (p.Asp1551GlufsTer7)
c.4707del (p.Asp1569GlufsTer7)
c.*4029del (n.*4029del)
c.230+11329del
c.4737del (p.Asp1579GlufsTer7)
c.4632del (p.Asp1544GlufsTer7)
c.4623del (p.Asp1541GlufsTer7)
c.4584del (p.Asp1528GlufsTer7)
c.4530del (p.Asp1510GlufsTer7)
c.4434del (p.Asp1478GlufsTer7)
c.4404del (p.Asp1468GlufsTer7)
c.4329del (p.Asp1443GlufsTer7)
c.4227del (p.Asp1409GlufsTer7)
c.3858del (p.Asp1286GlufsTer7)
5g.112840301T>ACA16031653APCc.4761T>A (p.Asp1587Glu)
c.*4713T>A (n.*4713T>A)
c.4653T>A (p.Asp1551Glu)
c.4707T>A (p.Asp1569Glu)
c.*4029T>A (n.*4029T>A)
c.230+11329T>A
c.4737T>A (p.Asp1579Glu)
c.4632T>A (p.Asp1544Glu)
c.4623T>A (p.Asp1541Glu)
c.4584T>A (p.Asp1528Glu)
c.4530T>A (p.Asp1510Glu)
c.4434T>A (p.Asp1478Glu)
c.4404T>A (p.Asp1468Glu)
c.4329T>A (p.Asp1443Glu)
c.4227T>A (p.Asp1409Glu)
c.3858T>A (p.Asp1286Glu)
 dbSNP
5g.112840301T>CCA446206683APCc.4761T>C (p.Asp1587=)
c.*4713T>C (n.*4713T>C)
c.4653T>C (p.Asp1551=)
c.4707T>C (p.Asp1569=)
c.*4029T>C (n.*4029T>C)
c.230+11329T>C
c.4737T>C (p.Asp1579=)
c.4632T>C (p.Asp1544=)
c.4623T>C (p.Asp1541=)
c.4584T>C (p.Asp1528=)
c.4530T>C (p.Asp1510=)
c.4434T>C (p.Asp1478=)
c.4404T>C (p.Asp1468=)
c.4329T>C (p.Asp1443=)
c.4227T>C (p.Asp1409=)
c.3858T>C (p.Asp1286=)
 ClinVar dbSNP gnomAD v4
5g.112840301T>GCA16031654APCc.4761T>G (p.Asp1587Glu)
c.*4713T>G (n.*4713T>G)
c.4653T>G (p.Asp1551Glu)
c.4707T>G (p.Asp1569Glu)
c.*4029T>G (n.*4029T>G)
c.230+11329T>G
c.4737T>G (p.Asp1579Glu)
c.4632T>G (p.Asp1544Glu)
c.4623T>G (p.Asp1541Glu)
c.4584T>G (p.Asp1528Glu)
c.4530T>G (p.Asp1510Glu)
c.4434T>G (p.Asp1478Glu)
c.4404T>G (p.Asp1468Glu)
c.4329T>G (p.Asp1443Glu)
c.4227T>G (p.Asp1409Glu)
c.3858T>G (p.Asp1286Glu)
5g.112840302G>ACA16031655APCc.4762G>A (p.Asp1588Asn)
c.*4714G>A (n.*4714G>A)
c.4654G>A (p.Asp1552Asn)
c.4708G>A (p.Asp1570Asn)
c.*4030G>A (n.*4030G>A)
c.230+11330G>A
c.4738G>A (p.Asp1580Asn)
c.4633G>A (p.Asp1545Asn)
c.4624G>A (p.Asp1542Asn)
c.4585G>A (p.Asp1529Asn)
c.4531G>A (p.Asp1511Asn)
c.4435G>A (p.Asp1479Asn)
c.4405G>A (p.Asp1469Asn)
c.4330G>A (p.Asp1444Asn)
c.4228G>A (p.Asp1410Asn)
c.3859G>A (p.Asp1287Asn)
 dbSNP
5g.112840302G>CCA16031656APCc.4762G>C (p.Asp1588His)
c.*4714G>C (n.*4714G>C)
c.4654G>C (p.Asp1552His)
c.4708G>C (p.Asp1570His)
c.*4030G>C (n.*4030G>C)
c.230+11330G>C
c.4738G>C (p.Asp1580His)
c.4633G>C (p.Asp1545His)
c.4624G>C (p.Asp1542His)
c.4585G>C (p.Asp1529His)
c.4531G>C (p.Asp1511His)
c.4435G>C (p.Asp1479His)
c.4405G>C (p.Asp1469His)
c.4330G>C (p.Asp1444His)
c.4228G>C (p.Asp1410His)
c.3859G>C (p.Asp1287His)
 dbSNP
5g.112840302G=CA1573471034APCc.4762G= (p.Asp1588=)
c.*4714G= (n.*4714G=)
c.4654G= (p.Asp1552=)
c.4708G= (p.Asp1570=)
c.*4030G= (n.*4030G=)
c.230+11330G=
c.4738G= (p.Asp1580=)
c.4633G= (p.Asp1545=)
c.4624G= (p.Asp1542=)
c.4585G= (p.Asp1529=)
c.4531G= (p.Asp1511=)
c.4435G= (p.Asp1479=)
c.4405G= (p.Asp1469=)
c.4330G= (p.Asp1444=)
c.4228G= (p.Asp1410=)
c.3859G= (p.Asp1287=)
5g.112840302G>TCA16031657APCc.4762G>T (p.Asp1588Tyr)
c.*4714G>T (n.*4714G>T)
c.4654G>T (p.Asp1552Tyr)
c.4708G>T (p.Asp1570Tyr)
c.*4030G>T (n.*4030G>T)
c.230+11330G>T
c.4738G>T (p.Asp1580Tyr)
c.4633G>T (p.Asp1545Tyr)
c.4624G>T (p.Asp1542Tyr)
c.4585G>T (p.Asp1529Tyr)
c.4531G>T (p.Asp1511Tyr)
c.4435G>T (p.Asp1479Tyr)
c.4405G>T (p.Asp1469Tyr)
c.4330G>T (p.Asp1444Tyr)
c.4228G>T (p.Asp1410Tyr)
c.3859G>T (p.Asp1287Tyr)
 dbSNP
5g.112840302_112840303insTCA2695205305APCc.4762_4763insT (p.Asp1588ValfsTer2)
c.*4714_*4715insT (n.*4714_*4715insT)
c.4654_4655insT (p.Asp1552ValfsTer2)
c.4708_4709insT (p.Asp1570ValfsTer2)
c.*4030_*4031insT (n.*4030_*4031insT)
c.230+11330_230+11331insT
c.4738_4739insT (p.Asp1580ValfsTer2)
c.4633_4634insT (p.Asp1545ValfsTer2)
c.4624_4625insT (p.Asp1542ValfsTer2)
c.4585_4586insT (p.Asp1529ValfsTer2)
c.4531_4532insT (p.Asp1511ValfsTer2)
c.4435_4436insT (p.Asp1479ValfsTer2)
c.4405_4406insT (p.Asp1469ValfsTer2)
c.4330_4331insT (p.Asp1444ValfsTer2)
c.4228_4229insT (p.Asp1410ValfsTer2)
c.3859_3860insT (p.Asp1287ValfsTer2)
5g.112840303delCA645543977APCc.4763del (p.Asp1588ValfsTer6)
c.*4715del (n.*4715del)
c.4655del (p.Asp1552ValfsTer6)
c.4709del (p.Asp1570ValfsTer6)
c.*4031del (n.*4031del)
c.230+11331del
c.4739del (p.Asp1580ValfsTer6)
c.4634del (p.Asp1545ValfsTer6)
c.4625del (p.Asp1542ValfsTer6)
c.4586del (p.Asp1529ValfsTer6)
c.4532del (p.Asp1511ValfsTer6)
c.4436del (p.Asp1479ValfsTer6)
c.4406del (p.Asp1469ValfsTer6)
c.4331del (p.Asp1444ValfsTer6)
c.4229del (p.Asp1410ValfsTer6)
c.3860del (p.Asp1287ValfsTer6)
 ClinVar COSMIC
5g.112840303A=CA1573471040APCc.4763A= (p.Asp1588=)
c.*4715A= (n.*4715A=)
c.4655A= (p.Asp1552=)
c.4709A= (p.Asp1570=)
c.*4031A= (n.*4031A=)
c.230+11331A=
c.4739A= (p.Asp1580=)
c.4634A= (p.Asp1545=)
c.4625A= (p.Asp1542=)
c.4586A= (p.Asp1529=)
c.4532A= (p.Asp1511=)
c.4436A= (p.Asp1479=)
c.4406A= (p.Asp1469=)
c.4331A= (p.Asp1444=)
c.4229A= (p.Asp1410=)
c.3860A= (p.Asp1287=)
5g.112840303A>CCA16031658APCc.4763A>C (p.Asp1588Ala)
c.*4715A>C (n.*4715A>C)
c.4655A>C (p.Asp1552Ala)
c.4709A>C (p.Asp1570Ala)
c.*4031A>C (n.*4031A>C)
c.230+11331A>C
c.4739A>C (p.Asp1580Ala)
c.4634A>C (p.Asp1545Ala)
c.4625A>C (p.Asp1542Ala)
c.4586A>C (p.Asp1529Ala)
c.4532A>C (p.Asp1511Ala)
c.4436A>C (p.Asp1479Ala)
c.4406A>C (p.Asp1469Ala)
c.4331A>C (p.Asp1444Ala)
c.4229A>C (p.Asp1410Ala)
c.3860A>C (p.Asp1287Ala)
5g.112840303A>GCA009695APCc.4763A>G (p.Asp1588Gly)
c.*4715A>G (n.*4715A>G)
c.4655A>G (p.Asp1552Gly)
c.4709A>G (p.Asp1570Gly)
c.*4031A>G (n.*4031A>G)
c.230+11331A>G
c.4739A>G (p.Asp1580Gly)
c.4634A>G (p.Asp1545Gly)
c.4625A>G (p.Asp1542Gly)
c.4586A>G (p.Asp1529Gly)
c.4532A>G (p.Asp1511Gly)
c.4436A>G (p.Asp1479Gly)
c.4406A>G (p.Asp1469Gly)
c.4331A>G (p.Asp1444Gly)
c.4229A>G (p.Asp1410Gly)
c.3860A>G (p.Asp1287Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840303A>TCA16031659APCc.4763A>T (p.Asp1588Val)
c.*4715A>T (n.*4715A>T)
c.4655A>T (p.Asp1552Val)
c.4709A>T (p.Asp1570Val)
c.*4031A>T (n.*4031A>T)
c.230+11331A>T
c.4739A>T (p.Asp1580Val)
c.4634A>T (p.Asp1545Val)
c.4625A>T (p.Asp1542Val)
c.4586A>T (p.Asp1529Val)
c.4532A>T (p.Asp1511Val)
c.4436A>T (p.Asp1479Val)
c.4406A>T (p.Asp1469Val)
c.4331A>T (p.Asp1444Val)
c.4229A>T (p.Asp1410Val)
c.3860A>T (p.Asp1287Val)
 dbSNP
5g.112840303_112840308delCA645543976APCc.4763_4768del (p.Asp1588_Ile1590delinsVal)
c.*4715_*4720del (n.*4715_*4720del)
c.4655_4660del (p.Asp1552_Ile1554delinsVal)
c.4709_4714del (p.Asp1570_Ile1572delinsVal)
c.*4031_*4036del (n.*4031_*4036del)
c.230+11331_230+11336del
c.4739_4744del (p.Asp1580_Ile1582delinsVal)
c.4634_4639del (p.Asp1545_Ile1547delinsVal)
c.4625_4630del (p.Asp1542_Ile1544delinsVal)
c.4586_4591del (p.Asp1529_Ile1531delinsVal)
c.4532_4537del (p.Asp1511_Ile1513delinsVal)
c.4436_4441del (p.Asp1479_Ile1481delinsVal)
c.4406_4411del (p.Asp1469_Ile1471delinsVal)
c.4331_4336del (p.Asp1444_Ile1446delinsVal)
c.4229_4234del (p.Asp1410_Ile1412delinsVal)
c.3860_3865del (p.Asp1287_Ile1289delinsVal)
 COSMIC
5g.112840304T>ACA10578381APCc.4764T>A (p.Asp1588Glu)
c.*4716T>A (n.*4716T>A)
c.4656T>A (p.Asp1552Glu)
c.4710T>A (p.Asp1570Glu)
c.*4032T>A (n.*4032T>A)
c.230+11332T>A
c.4740T>A (p.Asp1580Glu)
c.4635T>A (p.Asp1545Glu)
c.4626T>A (p.Asp1542Glu)
c.4587T>A (p.Asp1529Glu)
c.4533T>A (p.Asp1511Glu)
c.4437T>A (p.Asp1479Glu)
c.4407T>A (p.Asp1469Glu)
c.4332T>A (p.Asp1444Glu)
c.4230T>A (p.Asp1410Glu)
c.3861T>A (p.Asp1287Glu)
 ClinVar dbSNP
5g.112840304T>CCA125167787APCc.4764T>C (p.Asp1588=)
c.*4716T>C (n.*4716T>C)
c.4656T>C (p.Asp1552=)
c.4710T>C (p.Asp1570=)
c.*4032T>C (n.*4032T>C)
c.230+11332T>C
c.4740T>C (p.Asp1580=)
c.4635T>C (p.Asp1545=)
c.4626T>C (p.Asp1542=)
c.4587T>C (p.Asp1529=)
c.4533T>C (p.Asp1511=)
c.4437T>C (p.Asp1479=)
c.4407T>C (p.Asp1469=)
c.4332T>C (p.Asp1444=)
c.4230T>C (p.Asp1410=)
c.3861T>C (p.Asp1287=)
 ClinVar dbSNP
5g.112840304T>GCA16031660APCc.4764T>G (p.Asp1588Glu)
c.*4716T>G (n.*4716T>G)
c.4656T>G (p.Asp1552Glu)
c.4710T>G (p.Asp1570Glu)
c.*4032T>G (n.*4032T>G)
c.230+11332T>G
c.4740T>G (p.Asp1580Glu)
c.4635T>G (p.Asp1545Glu)
c.4626T>G (p.Asp1542Glu)
c.4587T>G (p.Asp1529Glu)
c.4533T>G (p.Asp1511Glu)
c.4437T>G (p.Asp1479Glu)
c.4407T>G (p.Asp1469Glu)
c.4332T>G (p.Asp1444Glu)
c.4230T>G (p.Asp1410Glu)
c.3861T>G (p.Asp1287Glu)
 dbSNP
5g.112840304T=CA1573471046APCc.4764T= (p.Asp1588=)
c.*4716T= (n.*4716T=)
c.4656T= (p.Asp1552=)
c.4710T= (p.Asp1570=)
c.*4032T= (n.*4032T=)
c.230+11332T=
c.4740T= (p.Asp1580=)
c.4635T= (p.Asp1545=)
c.4626T= (p.Asp1542=)
c.4587T= (p.Asp1529=)
c.4533T= (p.Asp1511=)
c.4437T= (p.Asp1479=)
c.4407T= (p.Asp1469=)
c.4332T= (p.Asp1444=)
c.4230T= (p.Asp1410=)
c.3861T= (p.Asp1287=)
5g.112840305G>ACA16031661APCc.4765G>A (p.Asp1589Asn)
c.*4717G>A (n.*4717G>A)
c.4657G>A (p.Asp1553Asn)
c.4711G>A (p.Asp1571Asn)
c.*4033G>A (n.*4033G>A)
c.230+11333G>A
c.4741G>A (p.Asp1581Asn)
c.4636G>A (p.Asp1546Asn)
c.4627G>A (p.Asp1543Asn)
c.4588G>A (p.Asp1530Asn)
c.4534G>A (p.Asp1512Asn)
c.4438G>A (p.Asp1480Asn)
c.4408G>A (p.Asp1470Asn)
c.4333G>A (p.Asp1445Asn)
c.4231G>A (p.Asp1411Asn)
c.3862G>A (p.Asp1288Asn)
 dbSNP
5g.112840305G>CCA16031662APCc.4765G>C (p.Asp1589His)
c.*4717G>C (n.*4717G>C)
c.4657G>C (p.Asp1553His)
c.4711G>C (p.Asp1571His)
c.*4033G>C (n.*4033G>C)
c.230+11333G>C
c.4741G>C (p.Asp1581His)
c.4636G>C (p.Asp1546His)
c.4627G>C (p.Asp1543His)
c.4588G>C (p.Asp1530His)
c.4534G>C (p.Asp1512His)
c.4438G>C (p.Asp1480His)
c.4408G>C (p.Asp1470His)
c.4333G>C (p.Asp1445His)
c.4231G>C (p.Asp1411His)
c.3862G>C (p.Asp1288His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840305G=CA1573471082APCc.4765G= (p.Asp1589=)
c.*4717G= (n.*4717G=)
c.4657G= (p.Asp1553=)
c.4711G= (p.Asp1571=)
c.*4033G= (n.*4033G=)
c.230+11333G=
c.4741G= (p.Asp1581=)
c.4636G= (p.Asp1546=)
c.4627G= (p.Asp1543=)
c.4588G= (p.Asp1530=)
c.4534G= (p.Asp1512=)
c.4438G= (p.Asp1480=)
c.4408G= (p.Asp1470=)
c.4333G= (p.Asp1445=)
c.4231G= (p.Asp1411=)
c.3862G= (p.Asp1288=)
5g.112840305G>TCA16031663APCc.4765G>T (p.Asp1589Tyr)
c.*4717G>T (n.*4717G>T)
c.4657G>T (p.Asp1553Tyr)
c.4711G>T (p.Asp1571Tyr)
c.*4033G>T (n.*4033G>T)
c.230+11333G>T
c.4741G>T (p.Asp1581Tyr)
c.4636G>T (p.Asp1546Tyr)
c.4627G>T (p.Asp1543Tyr)
c.4588G>T (p.Asp1530Tyr)
c.4534G>T (p.Asp1512Tyr)
c.4438G>T (p.Asp1480Tyr)
c.4408G>T (p.Asp1470Tyr)
c.4333G>T (p.Asp1445Tyr)
c.4231G>T (p.Asp1411Tyr)
c.3862G>T (p.Asp1288Tyr)
 dbSNP COSMIC
5g.112840306A=CA1573471085APCc.4766A= (p.Asp1589=)
c.*4718A= (n.*4718A=)
c.4658A= (p.Asp1553=)
c.4712A= (p.Asp1571=)
c.*4034A= (n.*4034A=)
c.230+11334A=
c.4742A= (p.Asp1581=)
c.4637A= (p.Asp1546=)
c.4628A= (p.Asp1543=)
c.4589A= (p.Asp1530=)
c.4535A= (p.Asp1512=)
c.4439A= (p.Asp1480=)
c.4409A= (p.Asp1470=)
c.4334A= (p.Asp1445=)
c.4232A= (p.Asp1411=)
c.3863A= (p.Asp1288=)
5g.112840306A>CCA16031664APCc.4766A>C (p.Asp1589Ala)
c.*4718A>C (n.*4718A>C)
c.4658A>C (p.Asp1553Ala)
c.4712A>C (p.Asp1571Ala)
c.*4034A>C (n.*4034A>C)
c.230+11334A>C
c.4742A>C (p.Asp1581Ala)
c.4637A>C (p.Asp1546Ala)
c.4628A>C (p.Asp1543Ala)
c.4589A>C (p.Asp1530Ala)
c.4535A>C (p.Asp1512Ala)
c.4439A>C (p.Asp1480Ala)
c.4409A>C (p.Asp1470Ala)
c.4334A>C (p.Asp1445Ala)
c.4232A>C (p.Asp1411Ala)
c.3863A>C (p.Asp1288Ala)
5g.112840306A>GCA16031665APCc.4766A>G (p.Asp1589Gly)
c.*4718A>G (n.*4718A>G)
c.4658A>G (p.Asp1553Gly)
c.4712A>G (p.Asp1571Gly)
c.*4034A>G (n.*4034A>G)
c.230+11334A>G
c.4742A>G (p.Asp1581Gly)
c.4637A>G (p.Asp1546Gly)
c.4628A>G (p.Asp1543Gly)
c.4589A>G (p.Asp1530Gly)
c.4535A>G (p.Asp1512Gly)
c.4439A>G (p.Asp1480Gly)
c.4409A>G (p.Asp1470Gly)
c.4334A>G (p.Asp1445Gly)
c.4232A>G (p.Asp1411Gly)
c.3863A>G (p.Asp1288Gly)
 dbSNP
5g.112840306A>TCA16031666APCc.4766A>T (p.Asp1589Val)
c.*4718A>T (n.*4718A>T)
c.4658A>T (p.Asp1553Val)
c.4712A>T (p.Asp1571Val)
c.*4034A>T (n.*4034A>T)
c.230+11334A>T
c.4742A>T (p.Asp1581Val)
c.4637A>T (p.Asp1546Val)
c.4628A>T (p.Asp1543Val)
c.4589A>T (p.Asp1530Val)
c.4535A>T (p.Asp1512Val)
c.4439A>T (p.Asp1480Val)
c.4409A>T (p.Asp1470Val)
c.4334A>T (p.Asp1445Val)
c.4232A>T (p.Asp1411Val)
c.3863A>T (p.Asp1288Val)
 dbSNP
5g.112840307T>ACA16031667APCc.4767T>A (p.Asp1589Glu)
c.*4719T>A (n.*4719T>A)
c.4659T>A (p.Asp1553Glu)
c.4713T>A (p.Asp1571Glu)
c.*4035T>A (n.*4035T>A)
c.230+11335T>A
c.4743T>A (p.Asp1581Glu)
c.4638T>A (p.Asp1546Glu)
c.4629T>A (p.Asp1543Glu)
c.4590T>A (p.Asp1530Glu)
c.4536T>A (p.Asp1512Glu)
c.4440T>A (p.Asp1480Glu)
c.4410T>A (p.Asp1470Glu)
c.4335T>A (p.Asp1445Glu)
c.4233T>A (p.Asp1411Glu)
c.3864T>A (p.Asp1288Glu)
 dbSNP
5g.112840307T>CCA446206684APCc.4767T>C (p.Asp1589=)
c.*4719T>C (n.*4719T>C)
c.4659T>C (p.Asp1553=)
c.4713T>C (p.Asp1571=)
c.*4035T>C (n.*4035T>C)
c.230+11335T>C
c.4743T>C (p.Asp1581=)
c.4638T>C (p.Asp1546=)
c.4629T>C (p.Asp1543=)
c.4590T>C (p.Asp1530=)
c.4536T>C (p.Asp1512=)
c.4440T>C (p.Asp1480=)
c.4410T>C (p.Asp1470=)
c.4335T>C (p.Asp1445=)
c.4233T>C (p.Asp1411=)
c.3864T>C (p.Asp1288=)
 ClinVar
5g.112840307T>GCA16031668APCc.4767T>G (p.Asp1589Glu)
c.*4719T>G (n.*4719T>G)
c.4659T>G (p.Asp1553Glu)
c.4713T>G (p.Asp1571Glu)
c.*4035T>G (n.*4035T>G)
c.230+11335T>G
c.4743T>G (p.Asp1581Glu)
c.4638T>G (p.Asp1546Glu)
c.4629T>G (p.Asp1543Glu)
c.4590T>G (p.Asp1530Glu)
c.4536T>G (p.Asp1512Glu)
c.4440T>G (p.Asp1480Glu)
c.4410T>G (p.Asp1470Glu)
c.4335T>G (p.Asp1445Glu)
c.4233T>G (p.Asp1411Glu)
c.3864T>G (p.Asp1288Glu)
 dbSNP
5g.112840308A=CA1573471088APCc.4768A= (p.Ile1590=)
c.*4720A= (n.*4720A=)
c.4660A= (p.Ile1554=)
c.4714A= (p.Ile1572=)
c.*4036A= (n.*4036A=)
c.230+11336A=
c.4744A= (p.Ile1582=)
c.4639A= (p.Ile1547=)
c.4630A= (p.Ile1544=)
c.4591A= (p.Ile1531=)
c.4537A= (p.Ile1513=)
c.4441A= (p.Ile1481=)
c.4411A= (p.Ile1471=)
c.4336A= (p.Ile1446=)
c.4234A= (p.Ile1412=)
c.3865A= (p.Ile1289=)
5g.112840308A>CCA16031669APCc.4768A>C (p.Ile1590Leu)
c.*4720A>C (n.*4720A>C)
c.4660A>C (p.Ile1554Leu)
c.4714A>C (p.Ile1572Leu)
c.*4036A>C (n.*4036A>C)
c.230+11336A>C
c.4744A>C (p.Ile1582Leu)
c.4639A>C (p.Ile1547Leu)
c.4630A>C (p.Ile1544Leu)
c.4591A>C (p.Ile1531Leu)
c.4537A>C (p.Ile1513Leu)
c.4441A>C (p.Ile1481Leu)
c.4411A>C (p.Ile1471Leu)
c.4336A>C (p.Ile1446Leu)
c.4234A>C (p.Ile1412Leu)
c.3865A>C (p.Ile1289Leu)
 dbSNP
5g.112840308A>GCA16031670APCc.4768A>G (p.Ile1590Val)
c.*4720A>G (n.*4720A>G)
c.4660A>G (p.Ile1554Val)
c.4714A>G (p.Ile1572Val)
c.*4036A>G (n.*4036A>G)
c.230+11336A>G
c.4744A>G (p.Ile1582Val)
c.4639A>G (p.Ile1547Val)
c.4630A>G (p.Ile1544Val)
c.4591A>G (p.Ile1531Val)
c.4537A>G (p.Ile1513Val)
c.4441A>G (p.Ile1481Val)
c.4411A>G (p.Ile1471Val)
c.4336A>G (p.Ile1446Val)
c.4234A>G (p.Ile1412Val)
c.3865A>G (p.Ile1289Val)
 ClinVar dbSNP
5g.112840308A>TCA039634APCc.4768A>T (p.Ile1590Phe)
c.*4720A>T (n.*4720A>T)
c.4660A>T (p.Ile1554Phe)
c.4714A>T (p.Ile1572Phe)
c.*4036A>T (n.*4036A>T)
c.230+11336A>T
c.4744A>T (p.Ile1582Phe)
c.4639A>T (p.Ile1547Phe)
c.4630A>T (p.Ile1544Phe)
c.4591A>T (p.Ile1531Phe)
c.4537A>T (p.Ile1513Phe)
c.4441A>T (p.Ile1481Phe)
c.4411A>T (p.Ile1471Phe)
c.4336A>T (p.Ile1446Phe)
c.4234A>T (p.Ile1412Phe)
c.3865A>T (p.Ile1289Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840308_112840309delinsCTTGGTGACA645543978APCc.4768_4769delinsCTTGGTGA (p.Ile1590delinsLeuGlyAsp)
c.*4720_*4721delinsCTTGGTGA (n.*4720_*4721delinsCTTGGTGA)
c.4660_4661delinsCTTGGTGA (p.Ile1554delinsLeuGlyAsp)
c.4714_4715delinsCTTGGTGA (p.Ile1572delinsLeuGlyAsp)
c.*4036_*4037delinsCTTGGTGA (n.*4036_*4037delinsCTTGGTGA)
c.230+11336_230+11337delinsCTTGGTGA
c.4744_4745delinsCTTGGTGA (p.Ile1582delinsLeuGlyAsp)
c.4639_4640delinsCTTGGTGA (p.Ile1547delinsLeuGlyAsp)
c.4630_4631delinsCTTGGTGA (p.Ile1544delinsLeuGlyAsp)
c.4591_4592delinsCTTGGTGA (p.Ile1531delinsLeuGlyAsp)
c.4537_4538delinsCTTGGTGA (p.Ile1513delinsLeuGlyAsp)
c.4441_4442delinsCTTGGTGA (p.Ile1481delinsLeuGlyAsp)
c.4411_4412delinsCTTGGTGA (p.Ile1471delinsLeuGlyAsp)
c.4336_4337delinsCTTGGTGA (p.Ile1446delinsLeuGlyAsp)
c.4234_4235delinsCTTGGTGA (p.Ile1412delinsLeuGlyAsp)
c.3865_3866delinsCTTGGTGA (p.Ile1289delinsLeuGlyAsp)
 COSMIC
5g.112840309T>ACA16031671APCc.4769T>A (p.Ile1590Asn)
c.*4721T>A (n.*4721T>A)
c.4661T>A (p.Ile1554Asn)
c.4715T>A (p.Ile1572Asn)
c.*4037T>A (n.*4037T>A)
c.230+11337T>A
c.4745T>A (p.Ile1582Asn)
c.4640T>A (p.Ile1547Asn)
c.4631T>A (p.Ile1544Asn)
c.4592T>A (p.Ile1531Asn)
c.4538T>A (p.Ile1513Asn)
c.4442T>A (p.Ile1481Asn)
c.4412T>A (p.Ile1471Asn)
c.4337T>A (p.Ile1446Asn)
c.4235T>A (p.Ile1412Asn)
c.3866T>A (p.Ile1289Asn)
 dbSNP
5g.112840309T>CCA336876APCc.4769T>C (p.Ile1590Thr)
c.*4721T>C (n.*4721T>C)
c.4661T>C (p.Ile1554Thr)
c.4715T>C (p.Ile1572Thr)
c.*4037T>C (n.*4037T>C)
c.230+11337T>C
c.4745T>C (p.Ile1582Thr)
c.4640T>C (p.Ile1547Thr)
c.4631T>C (p.Ile1544Thr)
c.4592T>C (p.Ile1531Thr)
c.4538T>C (p.Ile1513Thr)
c.4442T>C (p.Ile1481Thr)
c.4412T>C (p.Ile1471Thr)
c.4337T>C (p.Ile1446Thr)
c.4235T>C (p.Ile1412Thr)
c.3866T>C (p.Ile1289Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840309T>GCA16031672APCc.4769T>G (p.Ile1590Ser)
c.*4721T>G (n.*4721T>G)
c.4661T>G (p.Ile1554Ser)
c.4715T>G (p.Ile1572Ser)
c.*4037T>G (n.*4037T>G)
c.230+11337T>G
c.4745T>G (p.Ile1582Ser)
c.4640T>G (p.Ile1547Ser)
c.4631T>G (p.Ile1544Ser)
c.4592T>G (p.Ile1531Ser)
c.4538T>G (p.Ile1513Ser)
c.4442T>G (p.Ile1481Ser)
c.4412T>G (p.Ile1471Ser)
c.4337T>G (p.Ile1446Ser)
c.4235T>G (p.Ile1412Ser)
c.3866T>G (p.Ile1289Ser)
 ClinVar dbSNP
5g.112840309T=CA1573471095APCc.4769T= (p.Ile1590=)
c.*4721T= (n.*4721T=)
c.4661T= (p.Ile1554=)
c.4715T= (p.Ile1572=)
c.*4037T= (n.*4037T=)
c.230+11337T=
c.4745T= (p.Ile1582=)
c.4640T= (p.Ile1547=)
c.4631T= (p.Ile1544=)
c.4592T= (p.Ile1531=)
c.4538T= (p.Ile1513=)
c.4442T= (p.Ile1481=)
c.4412T= (p.Ile1471=)
c.4337T= (p.Ile1446=)
c.4235T= (p.Ile1412=)
c.3866T= (p.Ile1289=)
5g.112840310dupCA645543979APCc.4770dup (p.Glu1591Ter)
c.*4722dup (n.*4722dup)
c.4662dup (p.Glu1555Ter)
c.4716dup (p.Glu1573Ter)
c.*4038dup (n.*4038dup)
c.230+11338dup
c.4746dup (p.Glu1583Ter)
c.4641dup (p.Glu1548Ter)
c.4632dup (p.Glu1545Ter)
c.4593dup (p.Glu1532Ter)
c.4539dup (p.Glu1514Ter)
c.4443dup (p.Glu1482Ter)
c.4413dup (p.Glu1472Ter)
c.4338dup (p.Glu1447Ter)
c.4236dup (p.Glu1413Ter)
c.3867dup (p.Glu1290Ter)
 COSMIC COSMIC
5g.112840310T>ACA446206685APCc.4770T>A (p.Ile1590=)
c.*4722T>A (n.*4722T>A)
c.4662T>A (p.Ile1554=)
c.4716T>A (p.Ile1572=)
c.*4038T>A (n.*4038T>A)
c.230+11338T>A
c.4746T>A (p.Ile1582=)
c.4641T>A (p.Ile1547=)
c.4632T>A (p.Ile1544=)
c.4593T>A (p.Ile1531=)
c.4539T>A (p.Ile1513=)
c.4443T>A (p.Ile1481=)
c.4413T>A (p.Ile1471=)
c.4338T>A (p.Ile1446=)
c.4236T>A (p.Ile1412=)
c.3867T>A (p.Ile1289=)
5g.112840310T>CCA446206686APCc.4770T>C (p.Ile1590=)
c.*4722T>C (n.*4722T>C)
c.4662T>C (p.Ile1554=)
c.4716T>C (p.Ile1572=)
c.*4038T>C (n.*4038T>C)
c.230+11338T>C
c.4746T>C (p.Ile1582=)
c.4641T>C (p.Ile1547=)
c.4632T>C (p.Ile1544=)
c.4593T>C (p.Ile1531=)
c.4539T>C (p.Ile1513=)
c.4443T>C (p.Ile1481=)
c.4413T>C (p.Ile1471=)
c.4338T>C (p.Ile1446=)
c.4236T>C (p.Ile1412=)
c.3867T>C (p.Ile1289=)
5g.112840310T>GCA16031673APCc.4770T>G (p.Ile1590Met)
c.*4722T>G (n.*4722T>G)
c.4662T>G (p.Ile1554Met)
c.4716T>G (p.Ile1572Met)
c.*4038T>G (n.*4038T>G)
c.230+11338T>G
c.4746T>G (p.Ile1582Met)
c.4641T>G (p.Ile1547Met)
c.4632T>G (p.Ile1544Met)
c.4593T>G (p.Ile1531Met)
c.4539T>G (p.Ile1513Met)
c.4443T>G (p.Ile1481Met)
c.4413T>G (p.Ile1471Met)
c.4338T>G (p.Ile1446Met)
c.4236T>G (p.Ile1412Met)
c.3867T>G (p.Ile1289Met)
5g.112840310_112840311delinsTGCA1573471104APCc.4770_4771delinsTG (p.Ile1590=)
c.*4722_*4723delinsTG (n.*4722_*4723delinsTG)
c.4662_4663delinsTG (p.Ile1554=)
c.4716_4717delinsTG (p.Ile1572=)
c.*4038_*4039delinsTG (n.*4038_*4039delinsTG)
c.230+11338_230+11339delinsTG
c.4746_4747delinsTG (p.Ile1582=)
c.4641_4642delinsTG (p.Ile1547=)
c.4632_4633delinsTG (p.Ile1544=)
c.4593_4594delinsTG (p.Ile1531=)
c.4539_4540delinsTG (p.Ile1513=)
c.4443_4444delinsTG (p.Ile1481=)
c.4413_4414delinsTG (p.Ile1471=)
c.4338_4339delinsTG (p.Ile1446=)
c.4236_4237delinsTG (p.Ile1412=)
c.3867_3868delinsTG (p.Ile1289=)
5g.112840311delCA10581563APCc.4771del (p.Glu1591LysfsTer3)
c.*4723del (n.*4723del)
c.4663del (p.Glu1555LysfsTer3)
c.4717del (p.Glu1573LysfsTer3)
c.*4039del (n.*4039del)
c.230+11339del
c.4747del (p.Glu1583LysfsTer3)
c.4642del (p.Glu1548LysfsTer3)
c.4633del (p.Glu1545LysfsTer3)
c.4594del (p.Glu1532LysfsTer3)
c.4540del (p.Glu1514LysfsTer3)
c.4444del (p.Glu1482LysfsTer3)
c.4414del (p.Glu1472LysfsTer3)
c.4339del (p.Glu1447LysfsTer3)
c.4237del (p.Glu1413LysfsTer3)
c.3868del (p.Glu1290LysfsTer3)
 ClinVar dbSNP
5g.112840311G>ACA16031674APCc.4771G>A (p.Glu1591Lys)
c.*4723G>A (n.*4723G>A)
c.4663G>A (p.Glu1555Lys)
c.4717G>A (p.Glu1573Lys)
c.*4039G>A (n.*4039G>A)
c.230+11339G>A
c.4747G>A (p.Glu1583Lys)
c.4642G>A (p.Glu1548Lys)
c.4633G>A (p.Glu1545Lys)
c.4594G>A (p.Glu1532Lys)
c.4540G>A (p.Glu1514Lys)
c.4444G>A (p.Glu1482Lys)
c.4414G>A (p.Glu1472Lys)
c.4339G>A (p.Glu1447Lys)
c.4237G>A (p.Glu1413Lys)
c.3868G>A (p.Glu1290Lys)
 dbSNP COSMIC
5g.112840311G>CCA16031675APCc.4771G>C (p.Glu1591Gln)
c.*4723G>C (n.*4723G>C)
c.4663G>C (p.Glu1555Gln)
c.4717G>C (p.Glu1573Gln)
c.*4039G>C (n.*4039G>C)
c.230+11339G>C
c.4747G>C (p.Glu1583Gln)
c.4642G>C (p.Glu1548Gln)
c.4633G>C (p.Glu1545Gln)
c.4594G>C (p.Glu1532Gln)
c.4540G>C (p.Glu1514Gln)
c.4444G>C (p.Glu1482Gln)
c.4414G>C (p.Glu1472Gln)
c.4339G>C (p.Glu1447Gln)
c.4237G>C (p.Glu1413Gln)
c.3868G>C (p.Glu1290Gln)
 dbSNP
5g.112840311G>TCA16031676APCc.4771G>T (p.Glu1591Ter)
c.*4723G>T (n.*4723G>T)
c.4663G>T (p.Glu1555Ter)
c.4717G>T (p.Glu1573Ter)
c.*4039G>T (n.*4039G>T)
c.230+11339G>T
c.4747G>T (p.Glu1583Ter)
c.4642G>T (p.Glu1548Ter)
c.4633G>T (p.Glu1545Ter)
c.4594G>T (p.Glu1532Ter)
c.4540G>T (p.Glu1514Ter)
c.4444G>T (p.Glu1482Ter)
c.4414G>T (p.Glu1472Ter)
c.4339G>T (p.Glu1447Ter)
c.4237G>T (p.Glu1413Ter)
c.3868G>T (p.Glu1290Ter)
 dbSNP COSMIC
5g.112840311_112840312insTCA446206688APCc.4771_4772insT (p.Glu1591ValfsTer18)
c.*4723_*4724insT (n.*4723_*4724insT)
c.4663_4664insT (p.Glu1555ValfsTer18)
c.4717_4718insT (p.Glu1573ValfsTer18)
c.*4039_*4040insT (n.*4039_*4040insT)
c.230+11339_230+11340insT
c.4747_4748insT (p.Glu1583ValfsTer18)
c.4642_4643insT (p.Glu1548ValfsTer18)
c.4633_4634insT (p.Glu1545ValfsTer18)
c.4594_4595insT (p.Glu1532ValfsTer18)
c.4540_4541insT (p.Glu1514ValfsTer18)
c.4444_4445insT (p.Glu1482ValfsTer18)
c.4414_4415insT (p.Glu1472ValfsTer18)
c.4339_4340insT (p.Glu1447ValfsTer18)
c.4237_4238insT (p.Glu1413ValfsTer18)
c.3868_3869insT (p.Glu1290ValfsTer18)
5g.112840312A>CCA16031677APCc.4772A>C (p.Glu1591Ala)
c.*4724A>C (n.*4724A>C)
c.4664A>C (p.Glu1555Ala)
c.4718A>C (p.Glu1573Ala)
c.*4040A>C (n.*4040A>C)
c.230+11340A>C
c.4748A>C (p.Glu1583Ala)
c.4643A>C (p.Glu1548Ala)
c.4634A>C (p.Glu1545Ala)
c.4595A>C (p.Glu1532Ala)
c.4541A>C (p.Glu1514Ala)
c.4445A>C (p.Glu1482Ala)
c.4415A>C (p.Glu1472Ala)
c.4340A>C (p.Glu1447Ala)
c.4238A>C (p.Glu1413Ala)
c.3869A>C (p.Glu1290Ala)
 ClinVar
5g.112840312A>GCA16031678APCc.4772A>G (p.Glu1591Gly)
c.*4724A>G (n.*4724A>G)
c.4664A>G (p.Glu1555Gly)
c.4718A>G (p.Glu1573Gly)
c.*4040A>G (n.*4040A>G)
c.230+11340A>G
c.4748A>G (p.Glu1583Gly)
c.4643A>G (p.Glu1548Gly)
c.4634A>G (p.Glu1545Gly)
c.4595A>G (p.Glu1532Gly)
c.4541A>G (p.Glu1514Gly)
c.4445A>G (p.Glu1482Gly)
c.4415A>G (p.Glu1472Gly)
c.4340A>G (p.Glu1447Gly)
c.4238A>G (p.Glu1413Gly)
c.3869A>G (p.Glu1290Gly)
 dbSNP
5g.112840312A>TCA16031679APCc.4772A>T (p.Glu1591Val)
c.*4724A>T (n.*4724A>T)
c.4664A>T (p.Glu1555Val)
c.4718A>T (p.Glu1573Val)
c.*4040A>T (n.*4040A>T)
c.230+11340A>T
c.4748A>T (p.Glu1583Val)
c.4643A>T (p.Glu1548Val)
c.4634A>T (p.Glu1545Val)
c.4595A>T (p.Glu1532Val)
c.4541A>T (p.Glu1514Val)
c.4445A>T (p.Glu1482Val)
c.4415A>T (p.Glu1472Val)
c.4340A>T (p.Glu1447Val)
c.4238A>T (p.Glu1413Val)
c.3869A>T (p.Glu1290Val)
 dbSNP
5g.112840314delCA446206687APCc.4774del (p.Ile1592TyrfsTer2)
c.*4726del (n.*4726del)
c.4666del (p.Ile1556TyrfsTer2)
c.4720del (p.Ile1574TyrfsTer2)
c.*4042del (n.*4042del)
c.230+11342del
c.4750del (p.Ile1584TyrfsTer2)
c.4645del (p.Ile1549TyrfsTer2)
c.4636del (p.Ile1546TyrfsTer2)
c.4597del (p.Ile1533TyrfsTer2)
c.4543del (p.Ile1515TyrfsTer2)
c.4447del (p.Ile1483TyrfsTer2)
c.4417del (p.Ile1473TyrfsTer2)
c.4342del (p.Ile1448TyrfsTer2)
c.4240del (p.Ile1414TyrfsTer2)
c.3871del (p.Ile1291TyrfsTer2)
 COSMIC
5g.112840313A=CA1573471122APCc.4773A= (p.Glu1591=)
c.*4725A= (n.*4725A=)
c.4665A= (p.Glu1555=)
c.4719A= (p.Glu1573=)
c.*4041A= (n.*4041A=)
c.230+11341A=
c.4749A= (p.Glu1583=)
c.4644A= (p.Glu1548=)
c.4635A= (p.Glu1545=)
c.4596A= (p.Glu1532=)
c.4542A= (p.Glu1514=)
c.4446A= (p.Glu1482=)
c.4416A= (p.Glu1472=)
c.4341A= (p.Glu1447=)
c.4239A= (p.Glu1413=)
c.3870A= (p.Glu1290=)
5g.112840313A>CCA16031680APCc.4773A>C (p.Glu1591Asp)
c.*4725A>C (n.*4725A>C)
c.4665A>C (p.Glu1555Asp)
c.4719A>C (p.Glu1573Asp)
c.*4041A>C (n.*4041A>C)
c.230+11341A>C
c.4749A>C (p.Glu1583Asp)
c.4644A>C (p.Glu1548Asp)
c.4635A>C (p.Glu1545Asp)
c.4596A>C (p.Glu1532Asp)
c.4542A>C (p.Glu1514Asp)
c.4446A>C (p.Glu1482Asp)
c.4416A>C (p.Glu1472Asp)
c.4341A>C (p.Glu1447Asp)
c.4239A>C (p.Glu1413Asp)
c.3870A>C (p.Glu1290Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840313A>GCA446206689APCc.4773A>G (p.Glu1591=)
c.*4725A>G (n.*4725A>G)
c.4665A>G (p.Glu1555=)
c.4719A>G (p.Glu1573=)
c.*4041A>G (n.*4041A>G)
c.230+11341A>G
c.4749A>G (p.Glu1583=)
c.4644A>G (p.Glu1548=)
c.4635A>G (p.Glu1545=)
c.4596A>G (p.Glu1532=)
c.4542A>G (p.Glu1514=)
c.4446A>G (p.Glu1482=)
c.4416A>G (p.Glu1472=)
c.4341A>G (p.Glu1447=)
c.4239A>G (p.Glu1413=)
c.3870A>G (p.Glu1290=)
 ClinVar dbSNP
5g.112840313A>TCA16031681APCc.4773A>T (p.Glu1591Asp)
c.*4725A>T (n.*4725A>T)
c.4665A>T (p.Glu1555Asp)
c.4719A>T (p.Glu1573Asp)
c.*4041A>T (n.*4041A>T)
c.230+11341A>T
c.4749A>T (p.Glu1583Asp)
c.4644A>T (p.Glu1548Asp)
c.4635A>T (p.Glu1545Asp)
c.4596A>T (p.Glu1532Asp)
c.4542A>T (p.Glu1514Asp)
c.4446A>T (p.Glu1482Asp)
c.4416A>T (p.Glu1472Asp)
c.4341A>T (p.Glu1447Asp)
c.4239A>T (p.Glu1413Asp)
c.3870A>T (p.Glu1290Asp)
 dbSNP
5g.112840314A>CCA16031682APCc.4774A>C (p.Ile1592Leu)
c.*4726A>C (n.*4726A>C)
c.4666A>C (p.Ile1556Leu)
c.4720A>C (p.Ile1574Leu)
c.*4042A>C (n.*4042A>C)
c.230+11342A>C
c.4750A>C (p.Ile1584Leu)
c.4645A>C (p.Ile1549Leu)
c.4636A>C (p.Ile1546Leu)
c.4597A>C (p.Ile1533Leu)
c.4543A>C (p.Ile1515Leu)
c.4447A>C (p.Ile1483Leu)
c.4417A>C (p.Ile1473Leu)
c.4342A>C (p.Ile1448Leu)
c.4240A>C (p.Ile1414Leu)
c.3871A>C (p.Ile1291Leu)
5g.112840314A>GCA16031683APCc.4774A>G (p.Ile1592Val)
c.*4726A>G (n.*4726A>G)
c.4666A>G (p.Ile1556Val)
c.4720A>G (p.Ile1574Val)
c.*4042A>G (n.*4042A>G)
c.230+11342A>G
c.4750A>G (p.Ile1584Val)
c.4645A>G (p.Ile1549Val)
c.4636A>G (p.Ile1546Val)
c.4597A>G (p.Ile1533Val)
c.4543A>G (p.Ile1515Val)
c.4447A>G (p.Ile1483Val)
c.4417A>G (p.Ile1473Val)
c.4342A>G (p.Ile1448Val)
c.4240A>G (p.Ile1414Val)
c.3871A>G (p.Ile1291Val)
5g.112840314A>TCA16031684APCc.4774A>T (p.Ile1592Leu)
c.*4726A>T (n.*4726A>T)
c.4666A>T (p.Ile1556Leu)
c.4720A>T (p.Ile1574Leu)
c.*4042A>T (n.*4042A>T)
c.230+11342A>T
c.4750A>T (p.Ile1584Leu)
c.4645A>T (p.Ile1549Leu)
c.4636A>T (p.Ile1546Leu)
c.4597A>T (p.Ile1533Leu)
c.4543A>T (p.Ile1515Leu)
c.4447A>T (p.Ile1483Leu)
c.4417A>T (p.Ile1473Leu)
c.4342A>T (p.Ile1448Leu)
c.4240A>T (p.Ile1414Leu)
c.3871A>T (p.Ile1291Leu)
 dbSNP
5g.112840315T>ACA16031685APCc.4775T>A (p.Ile1592Lys)
c.*4727T>A (n.*4727T>A)
c.4667T>A (p.Ile1556Lys)
c.4721T>A (p.Ile1574Lys)
c.*4043T>A (n.*4043T>A)
c.230+11343T>A
c.4751T>A (p.Ile1584Lys)
c.4646T>A (p.Ile1549Lys)
c.4637T>A (p.Ile1546Lys)
c.4598T>A (p.Ile1533Lys)
c.4544T>A (p.Ile1515Lys)
c.4448T>A (p.Ile1483Lys)
c.4418T>A (p.Ile1473Lys)
c.4343T>A (p.Ile1448Lys)
c.4241T>A (p.Ile1414Lys)
c.3872T>A (p.Ile1291Lys)
 dbSNP
5g.112840315T>CCA16031686APCc.4775T>C (p.Ile1592Thr)
c.*4727T>C (n.*4727T>C)
c.4667T>C (p.Ile1556Thr)
c.4721T>C (p.Ile1574Thr)
c.*4043T>C (n.*4043T>C)
c.230+11343T>C
c.4751T>C (p.Ile1584Thr)
c.4646T>C (p.Ile1549Thr)
c.4637T>C (p.Ile1546Thr)
c.4598T>C (p.Ile1533Thr)
c.4544T>C (p.Ile1515Thr)
c.4448T>C (p.Ile1483Thr)
c.4418T>C (p.Ile1473Thr)
c.4343T>C (p.Ile1448Thr)
c.4241T>C (p.Ile1414Thr)
c.3872T>C (p.Ile1291Thr)
 ClinVar dbSNP
5g.112840315T>GCA16031687APCc.4775T>G (p.Ile1592Arg)
c.*4727T>G (n.*4727T>G)
c.4667T>G (p.Ile1556Arg)
c.4721T>G (p.Ile1574Arg)
c.*4043T>G (n.*4043T>G)
c.230+11343T>G
c.4751T>G (p.Ile1584Arg)
c.4646T>G (p.Ile1549Arg)
c.4637T>G (p.Ile1546Arg)
c.4598T>G (p.Ile1533Arg)
c.4544T>G (p.Ile1515Arg)
c.4448T>G (p.Ile1483Arg)
c.4418T>G (p.Ile1473Arg)
c.4343T>G (p.Ile1448Arg)
c.4241T>G (p.Ile1414Arg)
c.3872T>G (p.Ile1291Arg)
 dbSNP
5g.112840315_112840316insCCA2582341351APCc.4775_4776insC (p.Leu1593ThrfsTer16)
c.*4727_*4728insC (n.*4727_*4728insC)
c.4667_4668insC (p.Leu1557ThrfsTer16)
c.4721_4722insC (p.Leu1575ThrfsTer16)
c.*4043_*4044insC (n.*4043_*4044insC)
c.230+11343_230+11344insC
c.4751_4752insC (p.Leu1585ThrfsTer16)
c.4646_4647insC (p.Leu1550ThrfsTer16)
c.4637_4638insC (p.Leu1547ThrfsTer16)
c.4598_4599insC (p.Leu1534ThrfsTer16)
c.4544_4545insC (p.Leu1516ThrfsTer16)
c.4448_4449insC (p.Leu1484ThrfsTer16)
c.4418_4419insC (p.Leu1474ThrfsTer16)
c.4343_4344insC (p.Leu1449ThrfsTer16)
c.4241_4242insC (p.Leu1415ThrfsTer16)
c.3872_3873insC (p.Leu1292ThrfsTer16)
 ClinVar
5g.112840316A>CCA446206690APCc.4776A>C (p.Ile1592=)
c.*4728A>C (n.*4728A>C)
c.4668A>C (p.Ile1556=)
c.4722A>C (p.Ile1574=)
c.*4044A>C (n.*4044A>C)
c.230+11344A>C
c.4752A>C (p.Ile1584=)
c.4647A>C (p.Ile1549=)
c.4638A>C (p.Ile1546=)
c.4599A>C (p.Ile1533=)
c.4545A>C (p.Ile1515=)
c.4449A>C (p.Ile1483=)
c.4419A>C (p.Ile1473=)
c.4344A>C (p.Ile1448=)
c.4242A>C (p.Ile1414=)
c.3873A>C (p.Ile1291=)
5g.112840316A>GCA16031688APCc.4776A>G (p.Ile1592Met)
c.*4728A>G (n.*4728A>G)
c.4668A>G (p.Ile1556Met)
c.4722A>G (p.Ile1574Met)
c.*4044A>G (n.*4044A>G)
c.230+11344A>G
c.4752A>G (p.Ile1584Met)
c.4647A>G (p.Ile1549Met)
c.4638A>G (p.Ile1546Met)
c.4599A>G (p.Ile1533Met)
c.4545A>G (p.Ile1515Met)
c.4449A>G (p.Ile1483Met)
c.4419A>G (p.Ile1473Met)
c.4344A>G (p.Ile1448Met)
c.4242A>G (p.Ile1414Met)
c.3873A>G (p.Ile1291Met)
 dbSNP
5g.112840316A>TCA446206691APCc.4776A>T (p.Ile1592=)
c.*4728A>T (n.*4728A>T)
c.4668A>T (p.Ile1556=)
c.4722A>T (p.Ile1574=)
c.*4044A>T (n.*4044A>T)
c.230+11344A>T
c.4752A>T (p.Ile1584=)
c.4647A>T (p.Ile1549=)
c.4638A>T (p.Ile1546=)
c.4599A>T (p.Ile1533=)
c.4545A>T (p.Ile1515=)
c.4449A>T (p.Ile1483=)
c.4419A>T (p.Ile1473=)
c.4344A>T (p.Ile1448=)
c.4242A>T (p.Ile1414=)
c.3873A>T (p.Ile1291=)
 dbSNP
5g.112840316_112840319delCA658760778APCc.4776_4779del (p.Ile1592MetfsTer?)
c.*4728_*4731del (n.*4728_*4731del)
c.4668_4671del (p.Ile1556MetfsTer?)
c.4722_4725del (p.Ile1574MetfsTer?)
c.*4044_*4047del (n.*4044_*4047del)
c.230+11344_230+11347del
c.4752_4755del (p.Ile1584MetfsTer?)
c.4647_4650del (p.Ile1549MetfsTer?)
c.4638_4641del (p.Ile1546MetfsTer?)
c.4599_4602del (p.Ile1533MetfsTer?)
c.4545_4548del (p.Ile1515MetfsTer?)
c.4449_4452del (p.Ile1483MetfsTer?)
c.4419_4422del (p.Ile1473MetfsTer?)
c.4344_4347del (p.Ile1448MetfsTer?)
c.4242_4245del (p.Ile1414MetfsTer?)
c.3873_3876del (p.Ile1291MetfsTer?)
5g.112840317C>ACA16031689APCc.4777C>A (p.Leu1593Ile)
c.*4729C>A (n.*4729C>A)
c.4669C>A (p.Leu1557Ile)
c.4723C>A (p.Leu1575Ile)
c.*4045C>A (n.*4045C>A)
c.230+11345C>A
c.4753C>A (p.Leu1585Ile)
c.4648C>A (p.Leu1550Ile)
c.4639C>A (p.Leu1547Ile)
c.4600C>A (p.Leu1534Ile)
c.4546C>A (p.Leu1516Ile)
c.4450C>A (p.Leu1484Ile)
c.4420C>A (p.Leu1474Ile)
c.4345C>A (p.Leu1449Ile)
c.4243C>A (p.Leu1415Ile)
c.3874C>A (p.Leu1292Ile)
 dbSNP
5g.112840317C=CA1573471128APCc.4777C= (p.Leu1593=)
c.*4729C= (n.*4729C=)
c.4669C= (p.Leu1557=)
c.4723C= (p.Leu1575=)
c.*4045C= (n.*4045C=)
c.230+11345C=
c.4753C= (p.Leu1585=)
c.4648C= (p.Leu1550=)
c.4639C= (p.Leu1547=)
c.4600C= (p.Leu1534=)
c.4546C= (p.Leu1516=)
c.4450C= (p.Leu1484=)
c.4420C= (p.Leu1474=)
c.4345C= (p.Leu1449=)
c.4243C= (p.Leu1415=)
c.3874C= (p.Leu1292=)
5g.112840317C>GCA16031690APCc.4777C>G (p.Leu1593Val)
c.*4729C>G (n.*4729C>G)
c.4669C>G (p.Leu1557Val)
c.4723C>G (p.Leu1575Val)
c.*4045C>G (n.*4045C>G)
c.230+11345C>G
c.4753C>G (p.Leu1585Val)
c.4648C>G (p.Leu1550Val)
c.4639C>G (p.Leu1547Val)
c.4600C>G (p.Leu1534Val)
c.4546C>G (p.Leu1516Val)
c.4450C>G (p.Leu1484Val)
c.4420C>G (p.Leu1474Val)
c.4345C>G (p.Leu1449Val)
c.4243C>G (p.Leu1415Val)
c.3874C>G (p.Leu1292Val)
 ClinVar dbSNP
5g.112840317C>TCA16604781APCc.4777C>T (p.Leu1593=)
c.*4729C>T (n.*4729C>T)
c.4669C>T (p.Leu1557=)
c.4723C>T (p.Leu1575=)
c.*4045C>T (n.*4045C>T)
c.230+11345C>T
c.4753C>T (p.Leu1585=)
c.4648C>T (p.Leu1550=)
c.4639C>T (p.Leu1547=)
c.4600C>T (p.Leu1534=)
c.4546C>T (p.Leu1516=)
c.4450C>T (p.Leu1484=)
c.4420C>T (p.Leu1474=)
c.4345C>T (p.Leu1449=)
c.4243C>T (p.Leu1415=)
c.3874C>T (p.Leu1292=)
 ClinVar dbSNP
5g.112840318T>ACA16031691APCc.4778T>A (p.Leu1593Gln)
c.*4730T>A (n.*4730T>A)
c.4670T>A (p.Leu1557Gln)
c.4724T>A (p.Leu1575Gln)
c.*4046T>A (n.*4046T>A)
c.230+11346T>A
c.4754T>A (p.Leu1585Gln)
c.4649T>A (p.Leu1550Gln)
c.4640T>A (p.Leu1547Gln)
c.4601T>A (p.Leu1534Gln)
c.4547T>A (p.Leu1516Gln)
c.4451T>A (p.Leu1484Gln)
c.4421T>A (p.Leu1474Gln)
c.4346T>A (p.Leu1449Gln)
c.4244T>A (p.Leu1415Gln)
c.3875T>A (p.Leu1292Gln)
5g.112840318T>CCA16031692APCc.4778T>C (p.Leu1593Pro)
c.*4730T>C (n.*4730T>C)
c.4670T>C (p.Leu1557Pro)
c.4724T>C (p.Leu1575Pro)
c.*4046T>C (n.*4046T>C)
c.230+11346T>C
c.4754T>C (p.Leu1585Pro)
c.4649T>C (p.Leu1550Pro)
c.4640T>C (p.Leu1547Pro)
c.4601T>C (p.Leu1534Pro)
c.4547T>C (p.Leu1516Pro)
c.4451T>C (p.Leu1484Pro)
c.4421T>C (p.Leu1474Pro)
c.4346T>C (p.Leu1449Pro)
c.4244T>C (p.Leu1415Pro)
c.3875T>C (p.Leu1292Pro)
 ClinVar dbSNP
5g.112840318T>GCA16031693APCc.4778T>G (p.Leu1593Arg)
c.*4730T>G (n.*4730T>G)
c.4670T>G (p.Leu1557Arg)
c.4724T>G (p.Leu1575Arg)
c.*4046T>G (n.*4046T>G)
c.230+11346T>G
c.4754T>G (p.Leu1585Arg)
c.4649T>G (p.Leu1550Arg)
c.4640T>G (p.Leu1547Arg)
c.4601T>G (p.Leu1534Arg)
c.4547T>G (p.Leu1516Arg)
c.4451T>G (p.Leu1484Arg)
c.4421T>G (p.Leu1474Arg)
c.4346T>G (p.Leu1449Arg)
c.4244T>G (p.Leu1415Arg)
c.3875T>G (p.Leu1292Arg)
 ClinVar
5g.112840318T=CA1573471135APCc.4778T= (p.Leu1593=)
c.*4730T= (n.*4730T=)
c.4670T= (p.Leu1557=)
c.4724T= (p.Leu1575=)
c.*4046T= (n.*4046T=)
c.230+11346T=
c.4754T= (p.Leu1585=)
c.4649T= (p.Leu1550=)
c.4640T= (p.Leu1547=)
c.4601T= (p.Leu1534=)
c.4547T= (p.Leu1516=)
c.4451T= (p.Leu1484=)
c.4421T= (p.Leu1474=)
c.4346T= (p.Leu1449=)
c.4244T= (p.Leu1415=)
c.3875T= (p.Leu1292=)
5g.112840319delCA446206692APCc.4779del (p.Glu1594LysfsTer?)
c.*4731del (n.*4731del)
c.4671del (p.Glu1558LysfsTer?)
c.4725del (p.Glu1576LysfsTer?)
c.*4047del (n.*4047del)
c.230+11347del
c.4755del (p.Glu1586LysfsTer?)
c.4650del (p.Glu1551LysfsTer?)
c.4641del (p.Glu1548LysfsTer?)
c.4602del (p.Glu1535LysfsTer?)
c.4548del (p.Glu1517LysfsTer?)
c.4452del (p.Glu1485LysfsTer?)
c.4422del (p.Glu1475LysfsTer?)
c.4347del (p.Glu1450LysfsTer?)
c.4245del (p.Glu1416LysfsTer?)
c.3876del (p.Glu1293LysfsTer?)
5g.112840319A=CA1573471139APCc.4779A= (p.Leu1593=)
c.*4731A= (n.*4731A=)
c.4671A= (p.Leu1557=)
c.4725A= (p.Leu1575=)
c.*4047A= (n.*4047A=)
c.230+11347A=
c.4755A= (p.Leu1585=)
c.4650A= (p.Leu1550=)
c.4641A= (p.Leu1547=)
c.4602A= (p.Leu1534=)
c.4548A= (p.Leu1516=)
c.4452A= (p.Leu1484=)
c.4422A= (p.Leu1474=)
c.4347A= (p.Leu1449=)
c.4245A= (p.Leu1415=)
c.3876A= (p.Leu1292=)
5g.112840319A>CCA446206694APCc.4779A>C (p.Leu1593=)
c.*4731A>C (n.*4731A>C)
c.4671A>C (p.Leu1557=)
c.4725A>C (p.Leu1575=)
c.*4047A>C (n.*4047A>C)
c.230+11347A>C
c.4755A>C (p.Leu1585=)
c.4650A>C (p.Leu1550=)
c.4641A>C (p.Leu1547=)
c.4602A>C (p.Leu1534=)
c.4548A>C (p.Leu1516=)
c.4452A>C (p.Leu1484=)
c.4422A>C (p.Leu1474=)
c.4347A>C (p.Leu1449=)
c.4245A>C (p.Leu1415=)
c.3876A>C (p.Leu1292=)
 ClinVar
5g.112840319A>GCA16604782APCc.4779A>G (p.Leu1593=)
c.*4731A>G (n.*4731A>G)
c.4671A>G (p.Leu1557=)
c.4725A>G (p.Leu1575=)
c.*4047A>G (n.*4047A>G)
c.230+11347A>G
c.4755A>G (p.Leu1585=)
c.4650A>G (p.Leu1550=)
c.4641A>G (p.Leu1547=)
c.4602A>G (p.Leu1534=)
c.4548A>G (p.Leu1516=)
c.4452A>G (p.Leu1484=)
c.4422A>G (p.Leu1474=)
c.4347A>G (p.Leu1449=)
c.4245A>G (p.Leu1415=)
c.3876A>G (p.Leu1292=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840319A>TCA446206693APCc.4779A>T (p.Leu1593=)
c.*4731A>T (n.*4731A>T)
c.4671A>T (p.Leu1557=)
c.4725A>T (p.Leu1575=)
c.*4047A>T (n.*4047A>T)
c.230+11347A>T
c.4755A>T (p.Leu1585=)
c.4650A>T (p.Leu1550=)
c.4641A>T (p.Leu1547=)
c.4602A>T (p.Leu1534=)
c.4548A>T (p.Leu1516=)
c.4452A>T (p.Leu1484=)
c.4422A>T (p.Leu1474=)
c.4347A>T (p.Leu1449=)
c.4245A>T (p.Leu1415=)
c.3876A>T (p.Leu1292=)
 dbSNP
5g.112840320delCA446206695APCc.4780del (p.Glu1594LysfsTer?)
c.*4732del (n.*4732del)
c.4672del (p.Glu1558LysfsTer?)
c.4726del (p.Glu1576LysfsTer?)
c.*4048del (n.*4048del)
c.230+11348del
c.4756del (p.Glu1586LysfsTer?)
c.4651del (p.Glu1551LysfsTer?)
c.4642del (p.Glu1548LysfsTer?)
c.4603del (p.Glu1535LysfsTer?)
c.4549del (p.Glu1517LysfsTer?)
c.4453del (p.Glu1485LysfsTer?)
c.4423del (p.Glu1475LysfsTer?)
c.4348del (p.Glu1450LysfsTer?)
c.4246del (p.Glu1416LysfsTer?)
c.3877del (p.Glu1293LysfsTer?)
 ClinVar dbSNP COSMIC
5g.112840320G>ACA16031694APCc.4780G>A (p.Glu1594Lys)
c.*4732G>A (n.*4732G>A)
c.4672G>A (p.Glu1558Lys)
c.4726G>A (p.Glu1576Lys)
c.*4048G>A (n.*4048G>A)
c.230+11348G>A
c.4756G>A (p.Glu1586Lys)
c.4651G>A (p.Glu1551Lys)
c.4642G>A (p.Glu1548Lys)
c.4603G>A (p.Glu1535Lys)
c.4549G>A (p.Glu1517Lys)
c.4453G>A (p.Glu1485Lys)
c.4423G>A (p.Glu1475Lys)
c.4348G>A (p.Glu1450Lys)
c.4246G>A (p.Glu1416Lys)
c.3877G>A (p.Glu1293Lys)
 ClinVar dbSNP
5g.112840320G>CCA16031695APCc.4780G>C (p.Glu1594Gln)
c.*4732G>C (n.*4732G>C)
c.4672G>C (p.Glu1558Gln)
c.4726G>C (p.Glu1576Gln)
c.*4048G>C (n.*4048G>C)
c.230+11348G>C
c.4756G>C (p.Glu1586Gln)
c.4651G>C (p.Glu1551Gln)
c.4642G>C (p.Glu1548Gln)
c.4603G>C (p.Glu1535Gln)
c.4549G>C (p.Glu1517Gln)
c.4453G>C (p.Glu1485Gln)
c.4423G>C (p.Glu1475Gln)
c.4348G>C (p.Glu1450Gln)
c.4246G>C (p.Glu1416Gln)
c.3877G>C (p.Glu1293Gln)
 ClinVar dbSNP
5g.112840320G=CA1573471149APCc.4780G= (p.Glu1594=)
c.*4732G= (n.*4732G=)
c.4672G= (p.Glu1558=)
c.4726G= (p.Glu1576=)
c.*4048G= (n.*4048G=)
c.230+11348G=
c.4756G= (p.Glu1586=)
c.4651G= (p.Glu1551=)
c.4642G= (p.Glu1548=)
c.4603G= (p.Glu1535=)
c.4549G= (p.Glu1517=)
c.4453G= (p.Glu1485=)
c.4423G= (p.Glu1475=)
c.4348G= (p.Glu1450=)
c.4246G= (p.Glu1416=)
c.3877G= (p.Glu1293=)
5g.112840320G>TCA16031696APCc.4780G>T (p.Glu1594Ter)
c.*4732G>T (n.*4732G>T)
c.4672G>T (p.Glu1558Ter)
c.4726G>T (p.Glu1576Ter)
c.*4048G>T (n.*4048G>T)
c.230+11348G>T
c.4756G>T (p.Glu1586Ter)
c.4651G>T (p.Glu1551Ter)
c.4642G>T (p.Glu1548Ter)
c.4603G>T (p.Glu1535Ter)
c.4549G>T (p.Glu1517Ter)
c.4453G>T (p.Glu1485Ter)
c.4423G>T (p.Glu1475Ter)
c.4348G>T (p.Glu1450Ter)
c.4246G>T (p.Glu1416Ter)
c.3877G>T (p.Glu1293Ter)
 ClinVar dbSNP COSMIC
5g.112840321A>CCA16031697APCc.4781A>C (p.Glu1594Ala)
c.*4733A>C (n.*4733A>C)
c.4673A>C (p.Glu1558Ala)
c.4727A>C (p.Glu1576Ala)
c.*4049A>C (n.*4049A>C)
c.230+11349A>C
c.4757A>C (p.Glu1586Ala)
c.4652A>C (p.Glu1551Ala)
c.4643A>C (p.Glu1548Ala)
c.4604A>C (p.Glu1535Ala)
c.4550A>C (p.Glu1517Ala)
c.4454A>C (p.Glu1485Ala)
c.4424A>C (p.Glu1475Ala)
c.4349A>C (p.Glu1450Ala)
c.4247A>C (p.Glu1416Ala)
c.3878A>C (p.Glu1293Ala)
5g.112840321A>GCA16031698APCc.4781A>G (p.Glu1594Gly)
c.*4733A>G (n.*4733A>G)
c.4673A>G (p.Glu1558Gly)
c.4727A>G (p.Glu1576Gly)
c.*4049A>G (n.*4049A>G)
c.230+11349A>G
c.4757A>G (p.Glu1586Gly)
c.4652A>G (p.Glu1551Gly)
c.4643A>G (p.Glu1548Gly)
c.4604A>G (p.Glu1535Gly)
c.4550A>G (p.Glu1517Gly)
c.4454A>G (p.Glu1485Gly)
c.4424A>G (p.Glu1475Gly)
c.4349A>G (p.Glu1450Gly)
c.4247A>G (p.Glu1416Gly)
c.3878A>G (p.Glu1293Gly)
 dbSNP
5g.112840321A>TCA16031699APCc.4781A>T (p.Glu1594Val)
c.*4733A>T (n.*4733A>T)
c.4673A>T (p.Glu1558Val)
c.4727A>T (p.Glu1576Val)
c.*4049A>T (n.*4049A>T)
c.230+11349A>T
c.4757A>T (p.Glu1586Val)
c.4652A>T (p.Glu1551Val)
c.4643A>T (p.Glu1548Val)
c.4604A>T (p.Glu1535Val)
c.4550A>T (p.Glu1517Val)
c.4454A>T (p.Glu1485Val)
c.4424A>T (p.Glu1475Val)
c.4349A>T (p.Glu1450Val)
c.4247A>T (p.Glu1416Val)
c.3878A>T (p.Glu1293Val)
 dbSNP
5g.112840322dupCA658760779APCc.4782dup (p.Glu1595ArgfsTer14)
c.*4734dup (n.*4734dup)
c.4674dup (p.Glu1559ArgfsTer14)
c.4728dup (p.Glu1577ArgfsTer14)
c.*4050dup (n.*4050dup)
c.230+11350dup
c.4758dup (p.Glu1587ArgfsTer14)
c.4653dup (p.Glu1552ArgfsTer14)
c.4644dup (p.Glu1549ArgfsTer14)
c.4605dup (p.Glu1536ArgfsTer14)
c.4551dup (p.Glu1518ArgfsTer14)
c.4455dup (p.Glu1486ArgfsTer14)
c.4425dup (p.Glu1476ArgfsTer14)
c.4350dup (p.Glu1451ArgfsTer14)
c.4248dup (p.Glu1417ArgfsTer14)
c.3879dup (p.Glu1294ArgfsTer14)
 ClinVar dbSNP
5g.112840322A>CCA16031700APCc.4782A>C (p.Glu1594Asp)
c.*4734A>C (n.*4734A>C)
c.4674A>C (p.Glu1558Asp)
c.4728A>C (p.Glu1576Asp)
c.*4050A>C (n.*4050A>C)
c.230+11350A>C
c.4758A>C (p.Glu1586Asp)
c.4653A>C (p.Glu1551Asp)
c.4644A>C (p.Glu1548Asp)
c.4605A>C (p.Glu1535Asp)
c.4551A>C (p.Glu1517Asp)
c.4455A>C (p.Glu1485Asp)
c.4425A>C (p.Glu1475Asp)
c.4350A>C (p.Glu1450Asp)
c.4248A>C (p.Glu1416Asp)
c.3879A>C (p.Glu1293Asp)
5g.112840322A>GCA446206696APCc.4782A>G (p.Glu1594=)
c.*4734A>G (n.*4734A>G)
c.4674A>G (p.Glu1558=)
c.4728A>G (p.Glu1576=)
c.*4050A>G (n.*4050A>G)
c.230+11350A>G
c.4758A>G (p.Glu1586=)
c.4653A>G (p.Glu1551=)
c.4644A>G (p.Glu1548=)
c.4605A>G (p.Glu1535=)
c.4551A>G (p.Glu1517=)
c.4455A>G (p.Glu1485=)
c.4425A>G (p.Glu1475=)
c.4350A>G (p.Glu1450=)
c.4248A>G (p.Glu1416=)
c.3879A>G (p.Glu1293=)
 ClinVar dbSNP
5g.112840322A>TCA16031701APCc.4782A>T (p.Glu1594Asp)
c.*4734A>T (n.*4734A>T)
c.4674A>T (p.Glu1558Asp)
c.4728A>T (p.Glu1576Asp)
c.*4050A>T (n.*4050A>T)
c.230+11350A>T
c.4758A>T (p.Glu1586Asp)
c.4653A>T (p.Glu1551Asp)
c.4644A>T (p.Glu1548Asp)
c.4605A>T (p.Glu1535Asp)
c.4551A>T (p.Glu1517Asp)
c.4455A>T (p.Glu1485Asp)
c.4425A>T (p.Glu1475Asp)
c.4350A>T (p.Glu1450Asp)
c.4248A>T (p.Glu1416Asp)
c.3879A>T (p.Glu1293Asp)
 dbSNP
5g.112840323G>ACA16031702APCc.4783G>A (p.Glu1595Lys)
c.*4735G>A (n.*4735G>A)
c.4675G>A (p.Glu1559Lys)
c.4729G>A (p.Glu1577Lys)
c.*4051G>A (n.*4051G>A)
c.230+11351G>A
c.4759G>A (p.Glu1587Lys)
c.4654G>A (p.Glu1552Lys)
c.4645G>A (p.Glu1549Lys)
c.4606G>A (p.Glu1536Lys)
c.4552G>A (p.Glu1518Lys)
c.4456G>A (p.Glu1486Lys)
c.4426G>A (p.Glu1476Lys)
c.4351G>A (p.Glu1451Lys)
c.4249G>A (p.Glu1417Lys)
c.3880G>A (p.Glu1294Lys)
 dbSNP
5g.112840323G>CCA16031703APCc.4783G>C (p.Glu1595Gln)
c.*4735G>C (n.*4735G>C)
c.4675G>C (p.Glu1559Gln)
c.4729G>C (p.Glu1577Gln)
c.*4051G>C (n.*4051G>C)
c.230+11351G>C
c.4759G>C (p.Glu1587Gln)
c.4654G>C (p.Glu1552Gln)
c.4645G>C (p.Glu1549Gln)
c.4606G>C (p.Glu1536Gln)
c.4552G>C (p.Glu1518Gln)
c.4456G>C (p.Glu1486Gln)
c.4426G>C (p.Glu1476Gln)
c.4351G>C (p.Glu1451Gln)
c.4249G>C (p.Glu1417Gln)
c.3880G>C (p.Glu1294Gln)
 dbSNP gnomAD v2
5g.112840323G=CA1573471151APCc.4783G= (p.Glu1595=)
c.*4735G= (n.*4735G=)
c.4675G= (p.Glu1559=)
c.4729G= (p.Glu1577=)
c.*4051G= (n.*4051G=)
c.230+11351G=
c.4759G= (p.Glu1587=)
c.4654G= (p.Glu1552=)
c.4645G= (p.Glu1549=)
c.4606G= (p.Glu1536=)
c.4552G= (p.Glu1518=)
c.4456G= (p.Glu1486=)
c.4426G= (p.Glu1476=)
c.4351G= (p.Glu1451=)
c.4249G= (p.Glu1417=)
c.3880G= (p.Glu1294=)
5g.112840323G>TCA16031704APCc.4783G>T (p.Glu1595Ter)
c.*4735G>T (n.*4735G>T)
c.4675G>T (p.Glu1559Ter)
c.4729G>T (p.Glu1577Ter)
c.*4051G>T (n.*4051G>T)
c.230+11351G>T
c.4759G>T (p.Glu1587Ter)
c.4654G>T (p.Glu1552Ter)
c.4645G>T (p.Glu1549Ter)
c.4606G>T (p.Glu1536Ter)
c.4552G>T (p.Glu1518Ter)
c.4456G>T (p.Glu1486Ter)
c.4426G>T (p.Glu1476Ter)
c.4351G>T (p.Glu1451Ter)
c.4249G>T (p.Glu1417Ter)
c.3880G>T (p.Glu1294Ter)
 ClinVar dbSNP COSMIC
5g.112840324A>CCA16031705APCc.4784A>C (p.Glu1595Ala)
c.*4736A>C (n.*4736A>C)
c.4676A>C (p.Glu1559Ala)
c.4730A>C (p.Glu1577Ala)
c.*4052A>C (n.*4052A>C)
c.230+11352A>C
c.4760A>C (p.Glu1587Ala)
c.4655A>C (p.Glu1552Ala)
c.4646A>C (p.Glu1549Ala)
c.4607A>C (p.Glu1536Ala)
c.4553A>C (p.Glu1518Ala)
c.4457A>C (p.Glu1486Ala)
c.4427A>C (p.Glu1476Ala)
c.4352A>C (p.Glu1451Ala)
c.4250A>C (p.Glu1417Ala)
c.3881A>C (p.Glu1294Ala)
5g.112840324A>GCA16031706APCc.4784A>G (p.Glu1595Gly)
c.*4736A>G (n.*4736A>G)
c.4676A>G (p.Glu1559Gly)
c.4730A>G (p.Glu1577Gly)
c.*4052A>G (n.*4052A>G)
c.230+11352A>G
c.4760A>G (p.Glu1587Gly)
c.4655A>G (p.Glu1552Gly)
c.4646A>G (p.Glu1549Gly)
c.4607A>G (p.Glu1536Gly)
c.4553A>G (p.Glu1518Gly)
c.4457A>G (p.Glu1486Gly)
c.4427A>G (p.Glu1476Gly)
c.4352A>G (p.Glu1451Gly)
c.4250A>G (p.Glu1417Gly)
c.3881A>G (p.Glu1294Gly)
 dbSNP
5g.112840324A>TCA16031707APCc.4784A>T (p.Glu1595Val)
c.*4736A>T (n.*4736A>T)
c.4676A>T (p.Glu1559Val)
c.4730A>T (p.Glu1577Val)
c.*4052A>T (n.*4052A>T)
c.230+11352A>T
c.4760A>T (p.Glu1587Val)
c.4655A>T (p.Glu1552Val)
c.4646A>T (p.Glu1549Val)
c.4607A>T (p.Glu1536Val)
c.4553A>T (p.Glu1518Val)
c.4457A>T (p.Glu1486Val)
c.4427A>T (p.Glu1476Val)
c.4352A>T (p.Glu1451Val)
c.4250A>T (p.Glu1417Val)
c.3881A>T (p.Glu1294Val)
 dbSNP
5g.112840325dupCA446206697APCc.4785dup (p.Cys1596MetfsTer13)
c.*4737dup (n.*4737dup)
c.4677dup (p.Cys1560MetfsTer13)
c.4731dup (p.Cys1578MetfsTer13)
c.*4053dup (n.*4053dup)
c.230+11353dup
c.4761dup (p.Cys1588MetfsTer13)
c.4656dup (p.Cys1553MetfsTer13)
c.4647dup (p.Cys1550MetfsTer13)
c.4608dup (p.Cys1537MetfsTer13)
c.4554dup (p.Cys1519MetfsTer13)
c.4458dup (p.Cys1487MetfsTer13)
c.4428dup (p.Cys1477MetfsTer13)
c.4353dup (p.Cys1452MetfsTer13)
c.4251dup (p.Cys1418MetfsTer13)
c.3882dup (p.Cys1295MetfsTer13)
5g.112840325delCA645543980APCc.4785del (p.Glu1595AspfsTer?)
c.*4737del (n.*4737del)
c.4677del (p.Glu1559AspfsTer?)
c.4731del (p.Glu1577AspfsTer?)
c.*4053del (n.*4053del)
c.230+11353del
c.4761del (p.Glu1587AspfsTer?)
c.4656del (p.Glu1552AspfsTer?)
c.4647del (p.Glu1549AspfsTer?)
c.4608del (p.Glu1536AspfsTer?)
c.4554del (p.Glu1518AspfsTer?)
c.4458del (p.Glu1486AspfsTer?)
c.4428del (p.Glu1476AspfsTer?)
c.4353del (p.Glu1451AspfsTer?)
c.4251del (p.Glu1417AspfsTer?)
c.3882del (p.Glu1294AspfsTer?)
 COSMIC
5g.112840325A>CCA16031708APCc.4785A>C (p.Glu1595Asp)
c.*4737A>C (n.*4737A>C)
c.4677A>C (p.Glu1559Asp)
c.4731A>C (p.Glu1577Asp)
c.*4053A>C (n.*4053A>C)
c.230+11353A>C
c.4761A>C (p.Glu1587Asp)
c.4656A>C (p.Glu1552Asp)
c.4647A>C (p.Glu1549Asp)
c.4608A>C (p.Glu1536Asp)
c.4554A>C (p.Glu1518Asp)
c.4458A>C (p.Glu1486Asp)
c.4428A>C (p.Glu1476Asp)
c.4353A>C (p.Glu1451Asp)
c.4251A>C (p.Glu1417Asp)
c.3882A>C (p.Glu1294Asp)
5g.112840325A>GCA446206698APCc.4785A>G (p.Glu1595=)
c.*4737A>G (n.*4737A>G)
c.4677A>G (p.Glu1559=)
c.4731A>G (p.Glu1577=)
c.*4053A>G (n.*4053A>G)
c.230+11353A>G
c.4761A>G (p.Glu1587=)
c.4656A>G (p.Glu1552=)
c.4647A>G (p.Glu1549=)
c.4608A>G (p.Glu1536=)
c.4554A>G (p.Glu1518=)
c.4458A>G (p.Glu1486=)
c.4428A>G (p.Glu1476=)
c.4353A>G (p.Glu1451=)
c.4251A>G (p.Glu1417=)
c.3882A>G (p.Glu1294=)
 ClinVar
5g.112840325A>TCA16031709APCc.4785A>T (p.Glu1595Asp)
c.*4737A>T (n.*4737A>T)
c.4677A>T (p.Glu1559Asp)
c.4731A>T (p.Glu1577Asp)
c.*4053A>T (n.*4053A>T)
c.230+11353A>T
c.4761A>T (p.Glu1587Asp)
c.4656A>T (p.Glu1552Asp)
c.4647A>T (p.Glu1549Asp)
c.4608A>T (p.Glu1536Asp)
c.4554A>T (p.Glu1518Asp)
c.4458A>T (p.Glu1486Asp)
c.4428A>T (p.Glu1476Asp)
c.4353A>T (p.Glu1451Asp)
c.4251A>T (p.Glu1417Asp)
c.3882A>T (p.Glu1294Asp)
 dbSNP
5g.112840325_112840327delinsATGCA1573471155APCc.4785_4787delinsATG (p.Glu1595=)
c.*4737_*4739delinsATG (n.*4737_*4739delinsATG)
c.4677_4679delinsATG (p.Glu1559=)
c.4731_4733delinsATG (p.Glu1577=)
c.*4053_*4055delinsATG (n.*4053_*4055delinsATG)
c.230+11353_230+11355delinsATG
c.4761_4763delinsATG (p.Glu1587=)
c.4656_4658delinsATG (p.Glu1552=)
c.4647_4649delinsATG (p.Glu1549=)
c.4608_4610delinsATG (p.Glu1536=)
c.4554_4556delinsATG (p.Glu1518=)
c.4458_4460delinsATG (p.Glu1486=)
c.4428_4430delinsATG (p.Glu1476=)
c.4353_4355delinsATG (p.Glu1451=)
c.4251_4253delinsATG (p.Glu1417=)
c.3882_3884delinsATG (p.Glu1294=)
5g.112840327_112840330delCA645543981APCc.4787_4790del (p.Cys1596LeufsTer?)
c.*4739_*4742del (n.*4739_*4742del)
c.4679_4682del (p.Cys1560LeufsTer?)
c.4733_4736del (p.Cys1578LeufsTer?)
c.*4055_*4058del (n.*4055_*4058del)
c.230+11355_230+11358del
c.4763_4766del (p.Cys1588LeufsTer?)
c.4658_4661del (p.Cys1553LeufsTer?)
c.4649_4652del (p.Cys1550LeufsTer?)
c.4610_4613del (p.Cys1537LeufsTer?)
c.4556_4559del (p.Cys1519LeufsTer?)
c.4460_4463del (p.Cys1487LeufsTer?)
c.4430_4433del (p.Cys1477LeufsTer?)
c.4355_4358del (p.Cys1452LeufsTer?)
c.4253_4256del (p.Cys1418LeufsTer?)
c.3884_3887del (p.Cys1295LeufsTer?)
 COSMIC
5g.112840326T>ACA16031710APCc.4786T>A (p.Cys1596Ser)
c.*4738T>A (n.*4738T>A)
c.4678T>A (p.Cys1560Ser)
c.4732T>A (p.Cys1578Ser)
c.*4054T>A (n.*4054T>A)
c.230+11354T>A
c.4762T>A (p.Cys1588Ser)
c.4657T>A (p.Cys1553Ser)
c.4648T>A (p.Cys1550Ser)
c.4609T>A (p.Cys1537Ser)
c.4555T>A (p.Cys1519Ser)
c.4459T>A (p.Cys1487Ser)
c.4429T>A (p.Cys1477Ser)
c.4354T>A (p.Cys1452Ser)
c.4252T>A (p.Cys1418Ser)
c.3883T>A (p.Cys1295Ser)
 dbSNP
5g.112840326T>CCA16031711APCc.4786T>C (p.Cys1596Arg)
c.*4738T>C (n.*4738T>C)
c.4678T>C (p.Cys1560Arg)
c.4732T>C (p.Cys1578Arg)
c.*4054T>C (n.*4054T>C)
c.230+11354T>C
c.4762T>C (p.Cys1588Arg)
c.4657T>C (p.Cys1553Arg)
c.4648T>C (p.Cys1550Arg)
c.4609T>C (p.Cys1537Arg)
c.4555T>C (p.Cys1519Arg)
c.4459T>C (p.Cys1487Arg)
c.4429T>C (p.Cys1477Arg)
c.4354T>C (p.Cys1452Arg)
c.4252T>C (p.Cys1418Arg)
c.3883T>C (p.Cys1295Arg)
 ClinVar dbSNP gnomAD v4
5g.112840326T>GCA009712APCc.4786T>G (p.Cys1596Gly)
c.*4738T>G (n.*4738T>G)
c.4678T>G (p.Cys1560Gly)
c.4732T>G (p.Cys1578Gly)
c.*4054T>G (n.*4054T>G)
c.230+11354T>G
c.4762T>G (p.Cys1588Gly)
c.4657T>G (p.Cys1553Gly)
c.4648T>G (p.Cys1550Gly)
c.4609T>G (p.Cys1537Gly)
c.4555T>G (p.Cys1519Gly)
c.4459T>G (p.Cys1487Gly)
c.4429T>G (p.Cys1477Gly)
c.4354T>G (p.Cys1452Gly)
c.4252T>G (p.Cys1418Gly)
c.3883T>G (p.Cys1295Gly)
 ClinVar dbSNP gnomAD v4
5g.112840326T=CA1573471173APCc.4786T= (p.Cys1596=)
c.*4738T= (n.*4738T=)
c.4678T= (p.Cys1560=)
c.4732T= (p.Cys1578=)
c.*4054T= (n.*4054T=)
c.230+11354T=
c.4762T= (p.Cys1588=)
c.4657T= (p.Cys1553=)
c.4648T= (p.Cys1550=)
c.4609T= (p.Cys1537=)
c.4555T= (p.Cys1519=)
c.4459T= (p.Cys1487=)
c.4429T= (p.Cys1477=)
c.4354T= (p.Cys1452=)
c.4252T= (p.Cys1418=)
c.3883T= (p.Cys1295=)
5g.112840326dupCA645543982APCc.4786dup (p.Cys1596LeufsTer13)
c.*4738dup (n.*4738dup)
c.4678dup (p.Cys1560LeufsTer13)
c.4732dup (p.Cys1578LeufsTer13)
c.*4054dup (n.*4054dup)
c.230+11354dup
c.4762dup (p.Cys1588LeufsTer13)
c.4657dup (p.Cys1553LeufsTer13)
c.4648dup (p.Cys1550LeufsTer13)
c.4609dup (p.Cys1537LeufsTer13)
c.4555dup (p.Cys1519LeufsTer13)
c.4459dup (p.Cys1487LeufsTer13)
c.4429dup (p.Cys1477LeufsTer13)
c.4354dup (p.Cys1452LeufsTer13)
c.4252dup (p.Cys1418LeufsTer13)
c.3883dup (p.Cys1295LeufsTer13)
 COSMIC
5g.112840327_112840328delCA279695APCc.4787_4788del (p.Cys1596TyrfsTer12)
c.*4739_*4740del (n.*4739_*4740del)
c.4679_4680del (p.Cys1560TyrfsTer12)
c.4733_4734del (p.Cys1578TyrfsTer12)
c.*4055_*4056del (n.*4055_*4056del)
c.230+11355_230+11356del
c.4763_4764del (p.Cys1588TyrfsTer12)
c.4658_4659del (p.Cys1553TyrfsTer12)
c.4649_4650del (p.Cys1550TyrfsTer12)
c.4610_4611del (p.Cys1537TyrfsTer12)
c.4556_4557del (p.Cys1519TyrfsTer12)
c.4460_4461del (p.Cys1487TyrfsTer12)
c.4430_4431del (p.Cys1477TyrfsTer12)
c.4355_4356del (p.Cys1452TyrfsTer12)
c.4253_4254del (p.Cys1418TyrfsTer12)
c.3884_3885del (p.Cys1295TyrfsTer12)
 ClinVar dbSNP
5g.112840327G>ACA16031712APCc.4787G>A (p.Cys1596Tyr)
c.*4739G>A (n.*4739G>A)
c.4679G>A (p.Cys1560Tyr)
c.4733G>A (p.Cys1578Tyr)
c.*4055G>A (n.*4055G>A)
c.230+11355G>A
c.4763G>A (p.Cys1588Tyr)
c.4658G>A (p.Cys1553Tyr)
c.4649G>A (p.Cys1550Tyr)
c.4610G>A (p.Cys1537Tyr)
c.4556G>A (p.Cys1519Tyr)
c.4460G>A (p.Cys1487Tyr)
c.4430G>A (p.Cys1477Tyr)
c.4355G>A (p.Cys1452Tyr)
c.4253G>A (p.Cys1418Tyr)
c.3884G>A (p.Cys1295Tyr)
 dbSNP
5g.112840327G>CCA16031713APCc.4787G>C (p.Cys1596Ser)
c.*4739G>C (n.*4739G>C)
c.4679G>C (p.Cys1560Ser)
c.4733G>C (p.Cys1578Ser)
c.*4055G>C (n.*4055G>C)
c.230+11355G>C
c.4763G>C (p.Cys1588Ser)
c.4658G>C (p.Cys1553Ser)
c.4649G>C (p.Cys1550Ser)
c.4610G>C (p.Cys1537Ser)
c.4556G>C (p.Cys1519Ser)
c.4460G>C (p.Cys1487Ser)
c.4430G>C (p.Cys1477Ser)
c.4355G>C (p.Cys1452Ser)
c.4253G>C (p.Cys1418Ser)
c.3884G>C (p.Cys1295Ser)
 dbSNP
5g.112840327G>TCA16031714APCc.4787G>T (p.Cys1596Phe)
c.*4739G>T (n.*4739G>T)
c.4679G>T (p.Cys1560Phe)
c.4733G>T (p.Cys1578Phe)
c.*4055G>T (n.*4055G>T)
c.230+11355G>T
c.4763G>T (p.Cys1588Phe)
c.4658G>T (p.Cys1553Phe)
c.4649G>T (p.Cys1550Phe)
c.4610G>T (p.Cys1537Phe)
c.4556G>T (p.Cys1519Phe)
c.4460G>T (p.Cys1487Phe)
c.4430G>T (p.Cys1477Phe)
c.4355G>T (p.Cys1452Phe)
c.4253G>T (p.Cys1418Phe)
c.3884G>T (p.Cys1295Phe)
 dbSNP
5g.112840327_112840329delinsGTACA1573471179APCc.4787_4789delinsGTA (p.Cys1596=)
c.*4739_*4741delinsGTA (n.*4739_*4741delinsGTA)
c.4679_4681delinsGTA (p.Cys1560=)
c.4733_4735delinsGTA (p.Cys1578=)
c.*4055_*4057delinsGTA (n.*4055_*4057delinsGTA)
c.230+11355_230+11357delinsGTA
c.4763_4765delinsGTA (p.Cys1588=)
c.4658_4660delinsGTA (p.Cys1553=)
c.4649_4651delinsGTA (p.Cys1550=)
c.4610_4612delinsGTA (p.Cys1537=)
c.4556_4558delinsGTA (p.Cys1519=)
c.4460_4462delinsGTA (p.Cys1487=)
c.4430_4432delinsGTA (p.Cys1477=)
c.4355_4357delinsGTA (p.Cys1452=)
c.4253_4255delinsGTA (p.Cys1418=)
c.3884_3886delinsGTA (p.Cys1295=)
5g.112840327_112840330delinsGTATCA1573471178APCc.4787_4790delinsGTAT (p.Cys1596=)
c.*4739_*4742delinsGTAT (n.*4739_*4742delinsGTAT)
c.4679_4682delinsGTAT (p.Cys1560=)
c.4733_4736delinsGTAT (p.Cys1578=)
c.*4055_*4058delinsGTAT (n.*4055_*4058delinsGTAT)
c.230+11355_230+11358delinsGTAT
c.4763_4766delinsGTAT (p.Cys1588=)
c.4658_4661delinsGTAT (p.Cys1553=)
c.4649_4652delinsGTAT (p.Cys1550=)
c.4610_4613delinsGTAT (p.Cys1537=)
c.4556_4559delinsGTAT (p.Cys1519=)
c.4460_4463delinsGTAT (p.Cys1487=)
c.4430_4433delinsGTAT (p.Cys1477=)
c.4355_4358delinsGTAT (p.Cys1452=)
c.4253_4256delinsGTAT (p.Cys1418=)
c.3884_3887delinsGTAT (p.Cys1295=)
5g.112840328T>ACA16031715APCc.4788T>A (p.Cys1596Ter)
c.*4740T>A (n.*4740T>A)
c.4680T>A (p.Cys1560Ter)
c.4734T>A (p.Cys1578Ter)
c.*4056T>A (n.*4056T>A)
c.230+11356T>A
c.4764T>A (p.Cys1588Ter)
c.4659T>A (p.Cys1553Ter)
c.4650T>A (p.Cys1550Ter)
c.4611T>A (p.Cys1537Ter)
c.4557T>A (p.Cys1519Ter)
c.4461T>A (p.Cys1487Ter)
c.4431T>A (p.Cys1477Ter)
c.4356T>A (p.Cys1452Ter)
c.4254T>A (p.Cys1418Ter)
c.3885T>A (p.Cys1295Ter)
 dbSNP
5g.112840328T>CCA446206699APCc.4788T>C (p.Cys1596=)
c.*4740T>C (n.*4740T>C)
c.4680T>C (p.Cys1560=)
c.4734T>C (p.Cys1578=)
c.*4056T>C (n.*4056T>C)
c.230+11356T>C
c.4764T>C (p.Cys1588=)
c.4659T>C (p.Cys1553=)
c.4650T>C (p.Cys1550=)
c.4611T>C (p.Cys1537=)
c.4557T>C (p.Cys1519=)
c.4461T>C (p.Cys1487=)
c.4431T>C (p.Cys1477=)
c.4356T>C (p.Cys1452=)
c.4254T>C (p.Cys1418=)
c.3885T>C (p.Cys1295=)
 dbSNP
5g.112840328T>GCA16031716APCc.4788T>G (p.Cys1596Trp)
c.*4740T>G (n.*4740T>G)
c.4680T>G (p.Cys1560Trp)
c.4734T>G (p.Cys1578Trp)
c.*4056T>G (n.*4056T>G)
c.230+11356T>G
c.4764T>G (p.Cys1588Trp)
c.4659T>G (p.Cys1553Trp)
c.4650T>G (p.Cys1550Trp)
c.4611T>G (p.Cys1537Trp)
c.4557T>G (p.Cys1519Trp)
c.4461T>G (p.Cys1487Trp)
c.4431T>G (p.Cys1477Trp)
c.4356T>G (p.Cys1452Trp)
c.4254T>G (p.Cys1418Trp)
c.3885T>G (p.Cys1295Trp)
 dbSNP
5g.112840328dupCA446206700APCc.4788dup (p.Ile1597TyrfsTer12)
c.*4740dup (n.*4740dup)
c.4680dup (p.Ile1561TyrfsTer12)
c.4734dup (p.Ile1579TyrfsTer12)
c.*4056dup (n.*4056dup)
c.230+11356dup
c.4764dup (p.Ile1589TyrfsTer12)
c.4659dup (p.Ile1554TyrfsTer12)
c.4650dup (p.Ile1551TyrfsTer12)
c.4611dup (p.Ile1538TyrfsTer12)
c.4557dup (p.Ile1520TyrfsTer12)
c.4461dup (p.Ile1488TyrfsTer12)
c.4431dup (p.Ile1478TyrfsTer12)
c.4356dup (p.Ile1453TyrfsTer12)
c.4254dup (p.Ile1419TyrfsTer12)
c.3885dup (p.Ile1296TyrfsTer12)
 ClinVar
5g.112840329_112840330delCA645372798APCc.4789_4790del (p.Ile1597TyrfsTer11)
c.*4741_*4742del (n.*4741_*4742del)
c.4681_4682del (p.Ile1561TyrfsTer11)
c.4735_4736del (p.Ile1579TyrfsTer11)
c.*4057_*4058del (n.*4057_*4058del)
c.230+11357_230+11358del
c.4765_4766del (p.Ile1589TyrfsTer11)
c.4660_4661del (p.Ile1554TyrfsTer11)
c.4651_4652del (p.Ile1551TyrfsTer11)
c.4612_4613del (p.Ile1538TyrfsTer11)
c.4558_4559del (p.Ile1520TyrfsTer11)
c.4462_4463del (p.Ile1488TyrfsTer11)
c.4432_4433del (p.Ile1478TyrfsTer11)
c.4357_4358del (p.Ile1453TyrfsTer11)
c.4255_4256del (p.Ile1419TyrfsTer11)
c.3886_3887del (p.Ile1296TyrfsTer11)
 ClinVar dbSNP
5g.112840332_112840334delCA562217615APCc.4792_4794del (p.Ile1598del)
c.*4744_*4746del (n.*4744_*4746del)
c.4684_4686del (p.Ile1562del)
c.4738_4740del (p.Ile1580del)
c.*4060_*4062del (n.*4060_*4062del)
c.230+11360_230+11362del
c.4768_4770del (p.Ile1590del)
c.4663_4665del (p.Ile1555del)
c.4654_4656del (p.Ile1552del)
c.4615_4617del (p.Ile1539del)
c.4561_4563del (p.Ile1521del)
c.4465_4467del (p.Ile1489del)
c.4435_4437del (p.Ile1479del)
c.4360_4362del (p.Ile1454del)
c.4258_4260del (p.Ile1420del)
c.3889_3891del (p.Ile1297del)
 dbSNP gnomAD v2 gnomAD v4
5g.112840329A=CA1573471189APCc.4789A= (p.Ile1597=)
c.*4741A= (n.*4741A=)
c.4681A= (p.Ile1561=)
c.4735A= (p.Ile1579=)
c.*4057A= (n.*4057A=)
c.230+11357A=
c.4765A= (p.Ile1589=)
c.4660A= (p.Ile1554=)
c.4651A= (p.Ile1551=)
c.4612A= (p.Ile1538=)
c.4558A= (p.Ile1520=)
c.4462A= (p.Ile1488=)
c.4432A= (p.Ile1478=)
c.4357A= (p.Ile1453=)
c.4255A= (p.Ile1419=)
c.3886A= (p.Ile1296=)
5g.112840329A>CCA16031717APCc.4789A>C (p.Ile1597Leu)
c.*4741A>C (n.*4741A>C)
c.4681A>C (p.Ile1561Leu)
c.4735A>C (p.Ile1579Leu)
c.*4057A>C (n.*4057A>C)
c.230+11357A>C
c.4765A>C (p.Ile1589Leu)
c.4660A>C (p.Ile1554Leu)
c.4651A>C (p.Ile1551Leu)
c.4612A>C (p.Ile1538Leu)
c.4558A>C (p.Ile1520Leu)
c.4462A>C (p.Ile1488Leu)
c.4432A>C (p.Ile1478Leu)
c.4357A>C (p.Ile1453Leu)
c.4255A>C (p.Ile1419Leu)
c.3886A>C (p.Ile1296Leu)
5g.112840329A>GCA009718APCc.4789A>G (p.Ile1597Val)
c.*4741A>G (n.*4741A>G)
c.4681A>G (p.Ile1561Val)
c.4735A>G (p.Ile1579Val)
c.*4057A>G (n.*4057A>G)
c.230+11357A>G
c.4765A>G (p.Ile1589Val)
c.4660A>G (p.Ile1554Val)
c.4651A>G (p.Ile1551Val)
c.4612A>G (p.Ile1538Val)
c.4558A>G (p.Ile1520Val)
c.4462A>G (p.Ile1488Val)
c.4432A>G (p.Ile1478Val)
c.4357A>G (p.Ile1453Val)
c.4255A>G (p.Ile1419Val)
c.3886A>G (p.Ile1296Val)
 ClinVar dbSNP gnomAD v4
5g.112840329A>TCA10584253APCc.4789A>T (p.Ile1597Phe)
c.*4741A>T (n.*4741A>T)
c.4681A>T (p.Ile1561Phe)
c.4735A>T (p.Ile1579Phe)
c.*4057A>T (n.*4057A>T)
c.230+11357A>T
c.4765A>T (p.Ile1589Phe)
c.4660A>T (p.Ile1554Phe)
c.4651A>T (p.Ile1551Phe)
c.4612A>T (p.Ile1538Phe)
c.4558A>T (p.Ile1520Phe)
c.4462A>T (p.Ile1488Phe)
c.4432A>T (p.Ile1478Phe)
c.4357A>T (p.Ile1453Phe)
c.4255A>T (p.Ile1419Phe)
c.3886A>T (p.Ile1296Phe)
 ClinVar dbSNP
5g.112840330T>ACA16031718APCc.4790T>A (p.Ile1597Asn)
c.*4742T>A (n.*4742T>A)
c.4682T>A (p.Ile1561Asn)
c.4736T>A (p.Ile1579Asn)
c.*4058T>A (n.*4058T>A)
c.230+11358T>A
c.4766T>A (p.Ile1589Asn)
c.4661T>A (p.Ile1554Asn)
c.4652T>A (p.Ile1551Asn)
c.4613T>A (p.Ile1538Asn)
c.4559T>A (p.Ile1520Asn)
c.4463T>A (p.Ile1488Asn)
c.4433T>A (p.Ile1478Asn)
c.4358T>A (p.Ile1453Asn)
c.4256T>A (p.Ile1419Asn)
c.3887T>A (p.Ile1296Asn)
 dbSNP
5g.112840330T>CCA16031719APCc.4790T>C (p.Ile1597Thr)
c.*4742T>C (n.*4742T>C)
c.4682T>C (p.Ile1561Thr)
c.4736T>C (p.Ile1579Thr)
c.*4058T>C (n.*4058T>C)
c.230+11358T>C
c.4766T>C (p.Ile1589Thr)
c.4661T>C (p.Ile1554Thr)
c.4652T>C (p.Ile1551Thr)
c.4613T>C (p.Ile1538Thr)
c.4559T>C (p.Ile1520Thr)
c.4463T>C (p.Ile1488Thr)
c.4433T>C (p.Ile1478Thr)
c.4358T>C (p.Ile1453Thr)
c.4256T>C (p.Ile1419Thr)
c.3887T>C (p.Ile1296Thr)
 ClinVar dbSNP
5g.112840330T>GCA16031720APCc.4790T>G (p.Ile1597Ser)
c.*4742T>G (n.*4742T>G)
c.4682T>G (p.Ile1561Ser)
c.4736T>G (p.Ile1579Ser)
c.*4058T>G (n.*4058T>G)
c.230+11358T>G
c.4766T>G (p.Ile1589Ser)
c.4661T>G (p.Ile1554Ser)
c.4652T>G (p.Ile1551Ser)
c.4613T>G (p.Ile1538Ser)
c.4559T>G (p.Ile1520Ser)
c.4463T>G (p.Ile1488Ser)
c.4433T>G (p.Ile1478Ser)
c.4358T>G (p.Ile1453Ser)
c.4256T>G (p.Ile1419Ser)
c.3887T>G (p.Ile1296Ser)
 ClinVar dbSNP
5g.112840330T=CA1573471200APCc.4790T= (p.Ile1597=)
c.*4742T= (n.*4742T=)
c.4682T= (p.Ile1561=)
c.4736T= (p.Ile1579=)
c.*4058T= (n.*4058T=)
c.230+11358T=
c.4766T= (p.Ile1589=)
c.4661T= (p.Ile1554=)
c.4652T= (p.Ile1551=)
c.4613T= (p.Ile1538=)
c.4559T= (p.Ile1520=)
c.4463T= (p.Ile1488=)
c.4433T= (p.Ile1478=)
c.4358T= (p.Ile1453=)
c.4256T= (p.Ile1419=)
c.3887T= (p.Ile1296=)
5g.112840331dupCA645369381APCc.4791dup (p.Ile1598TyrfsTer11)
c.*4743dup (n.*4743dup)
c.4683dup (p.Ile1562TyrfsTer11)
c.4737dup (p.Ile1580TyrfsTer11)
c.*4059dup (n.*4059dup)
c.230+11359dup
c.4767dup (p.Ile1590TyrfsTer11)
c.4662dup (p.Ile1555TyrfsTer11)
c.4653dup (p.Ile1552TyrfsTer11)
c.4614dup (p.Ile1539TyrfsTer11)
c.4560dup (p.Ile1521TyrfsTer11)
c.4464dup (p.Ile1489TyrfsTer11)
c.4434dup (p.Ile1479TyrfsTer11)
c.4359dup (p.Ile1454TyrfsTer11)
c.4257dup (p.Ile1420TyrfsTer11)
c.3888dup (p.Ile1297TyrfsTer11)
 ClinVar dbSNP
5g.112840331delCA2580072560APCc.4791del (p.Ile1598PhefsTer?)
c.*4743del (n.*4743del)
c.4683del (p.Ile1562PhefsTer?)
c.4737del (p.Ile1580PhefsTer?)
c.*4059del (n.*4059del)
c.230+11359del
c.4767del (p.Ile1590PhefsTer?)
c.4662del (p.Ile1555PhefsTer?)
c.4653del (p.Ile1552PhefsTer?)
c.4614del (p.Ile1539PhefsTer?)
c.4560del (p.Ile1521PhefsTer?)
c.4464del (p.Ile1489PhefsTer?)
c.4434del (p.Ile1479PhefsTer?)
c.4359del (p.Ile1454PhefsTer?)
c.4257del (p.Ile1420PhefsTer?)
c.3888del (p.Ile1297PhefsTer?)
 ClinVar
5g.112840332_112840335delCA645543983APCc.4792_4795del (p.Ile1598LeufsTer?)
c.*4744_*4747del (n.*4744_*4747del)
c.4684_4687del (p.Ile1562LeufsTer?)
c.4738_4741del (p.Ile1580LeufsTer?)
c.*4060_*4063del (n.*4060_*4063del)
c.230+11360_230+11363del
c.4768_4771del (p.Ile1590LeufsTer?)
c.4663_4666del (p.Ile1555LeufsTer?)
c.4654_4657del (p.Ile1552LeufsTer?)
c.4615_4618del (p.Ile1539LeufsTer?)
c.4561_4564del (p.Ile1521LeufsTer?)
c.4465_4468del (p.Ile1489LeufsTer?)
c.4435_4438del (p.Ile1479LeufsTer?)
c.4360_4363del (p.Ile1454LeufsTer?)
c.4258_4261del (p.Ile1420LeufsTer?)
c.3889_3892del (p.Ile1297LeufsTer?)
 ClinVar COSMIC COSMIC
5g.112840331T>ACA446206702APCc.4791T>A (p.Ile1597=)
c.*4743T>A (n.*4743T>A)
c.4683T>A (p.Ile1561=)
c.4737T>A (p.Ile1579=)
c.*4059T>A (n.*4059T>A)
c.230+11359T>A
c.4767T>A (p.Ile1589=)
c.4662T>A (p.Ile1554=)
c.4653T>A (p.Ile1551=)
c.4614T>A (p.Ile1538=)
c.4560T>A (p.Ile1520=)
c.4464T>A (p.Ile1488=)
c.4434T>A (p.Ile1478=)
c.4359T>A (p.Ile1453=)
c.4257T>A (p.Ile1419=)
c.3888T>A (p.Ile1296=)
 ClinVar dbSNP
5g.112840331T>CCA446206701APCc.4791T>C (p.Ile1597=)
c.*4743T>C (n.*4743T>C)
c.4683T>C (p.Ile1561=)
c.4737T>C (p.Ile1579=)
c.*4059T>C (n.*4059T>C)
c.230+11359T>C
c.4767T>C (p.Ile1589=)
c.4662T>C (p.Ile1554=)
c.4653T>C (p.Ile1551=)
c.4614T>C (p.Ile1538=)
c.4560T>C (p.Ile1520=)
c.4464T>C (p.Ile1488=)
c.4434T>C (p.Ile1478=)
c.4359T>C (p.Ile1453=)
c.4257T>C (p.Ile1419=)
c.3888T>C (p.Ile1296=)
5g.112840331T>GCA16031721APCc.4791T>G (p.Ile1597Met)
c.*4743T>G (n.*4743T>G)
c.4683T>G (p.Ile1561Met)
c.4737T>G (p.Ile1579Met)
c.*4059T>G (n.*4059T>G)
c.230+11359T>G
c.4767T>G (p.Ile1589Met)
c.4662T>G (p.Ile1554Met)
c.4653T>G (p.Ile1551Met)
c.4614T>G (p.Ile1538Met)
c.4560T>G (p.Ile1520Met)
c.4464T>G (p.Ile1488Met)
c.4434T>G (p.Ile1478Met)
c.4359T>G (p.Ile1453Met)
c.4257T>G (p.Ile1419Met)
c.3888T>G (p.Ile1296Met)
5g.112840332A>CCA16031722APCc.4792A>C (p.Ile1598Leu)
c.*4744A>C (n.*4744A>C)
c.4684A>C (p.Ile1562Leu)
c.4738A>C (p.Ile1580Leu)
c.*4060A>C (n.*4060A>C)
c.230+11360A>C
c.4768A>C (p.Ile1590Leu)
c.4663A>C (p.Ile1555Leu)
c.4654A>C (p.Ile1552Leu)
c.4615A>C (p.Ile1539Leu)
c.4561A>C (p.Ile1521Leu)
c.4465A>C (p.Ile1489Leu)
c.4435A>C (p.Ile1479Leu)
c.4360A>C (p.Ile1454Leu)
c.4258A>C (p.Ile1420Leu)
c.3889A>C (p.Ile1297Leu)
 dbSNP
5g.112840332A>GCA16031723APCc.4792A>G (p.Ile1598Val)
c.*4744A>G (n.*4744A>G)
c.4684A>G (p.Ile1562Val)
c.4738A>G (p.Ile1580Val)
c.*4060A>G (n.*4060A>G)
c.230+11360A>G
c.4768A>G (p.Ile1590Val)
c.4663A>G (p.Ile1555Val)
c.4654A>G (p.Ile1552Val)
c.4615A>G (p.Ile1539Val)
c.4561A>G (p.Ile1521Val)
c.4465A>G (p.Ile1489Val)
c.4435A>G (p.Ile1479Val)
c.4360A>G (p.Ile1454Val)
c.4258A>G (p.Ile1420Val)
c.3889A>G (p.Ile1297Val)
5g.112840332A>TCA16031724APCc.4792A>T (p.Ile1598Phe)
c.*4744A>T (n.*4744A>T)
c.4684A>T (p.Ile1562Phe)
c.4738A>T (p.Ile1580Phe)
c.*4060A>T (n.*4060A>T)
c.230+11360A>T
c.4768A>T (p.Ile1590Phe)
c.4663A>T (p.Ile1555Phe)
c.4654A>T (p.Ile1552Phe)
c.4615A>T (p.Ile1539Phe)
c.4561A>T (p.Ile1521Phe)
c.4465A>T (p.Ile1489Phe)
c.4435A>T (p.Ile1479Phe)
c.4360A>T (p.Ile1454Phe)
c.4258A>T (p.Ile1420Phe)
c.3889A>T (p.Ile1297Phe)
 dbSNP gnomAD v4
5g.112840332dupCA446206703APCc.4792dup (p.Ile1598AsnfsTer11)
c.*4744dup (n.*4744dup)
c.4684dup (p.Ile1562AsnfsTer11)
c.4738dup (p.Ile1580AsnfsTer11)
c.*4060dup (n.*4060dup)
c.230+11360dup
c.4768dup (p.Ile1590AsnfsTer11)
c.4663dup (p.Ile1555AsnfsTer11)
c.4654dup (p.Ile1552AsnfsTer11)
c.4615dup (p.Ile1539AsnfsTer11)
c.4561dup (p.Ile1521AsnfsTer11)
c.4465dup (p.Ile1489AsnfsTer11)
c.4435dup (p.Ile1479AsnfsTer11)
c.4360dup (p.Ile1454AsnfsTer11)
c.4258dup (p.Ile1420AsnfsTer11)
c.3889dup (p.Ile1297AsnfsTer11)
 COSMIC
5g.112840332_112840333delinsATCA1573471229APCc.4792_4793delinsAT (p.Ile1598=)
c.*4744_*4745delinsAT (n.*4744_*4745delinsAT)
c.4684_4685delinsAT (p.Ile1562=)
c.4738_4739delinsAT (p.Ile1580=)
c.*4060_*4061delinsAT (n.*4060_*4061delinsAT)
c.230+11360_230+11361delinsAT
c.4768_4769delinsAT (p.Ile1590=)
c.4663_4664delinsAT (p.Ile1555=)
c.4654_4655delinsAT (p.Ile1552=)
c.4615_4616delinsAT (p.Ile1539=)
c.4561_4562delinsAT (p.Ile1521=)
c.4465_4466delinsAT (p.Ile1489=)
c.4435_4436delinsAT (p.Ile1479=)
c.4360_4361delinsAT (p.Ile1454=)
c.4258_4259delinsAT (p.Ile1420=)
c.3889_3890delinsAT (p.Ile1297=)
5g.112840333T>ACA16031725APCc.4793T>A (p.Ile1598Asn)
c.*4745T>A (n.*4745T>A)
c.4685T>A (p.Ile1562Asn)
c.4739T>A (p.Ile1580Asn)
c.*4061T>A (n.*4061T>A)
c.230+11361T>A
c.4769T>A (p.Ile1590Asn)
c.4664T>A (p.Ile1555Asn)
c.4655T>A (p.Ile1552Asn)
c.4616T>A (p.Ile1539Asn)
c.4562T>A (p.Ile1521Asn)
c.4466T>A (p.Ile1489Asn)
c.4436T>A (p.Ile1479Asn)
c.4361T>A (p.Ile1454Asn)
c.4259T>A (p.Ile1420Asn)
c.3890T>A (p.Ile1297Asn)
 dbSNP
5g.112840333T>CCA16031726APCc.4793T>C (p.Ile1598Thr)
c.*4745T>C (n.*4745T>C)
c.4685T>C (p.Ile1562Thr)
c.4739T>C (p.Ile1580Thr)
c.*4061T>C (n.*4061T>C)
c.230+11361T>C
c.4769T>C (p.Ile1590Thr)
c.4664T>C (p.Ile1555Thr)
c.4655T>C (p.Ile1552Thr)
c.4616T>C (p.Ile1539Thr)
c.4562T>C (p.Ile1521Thr)
c.4466T>C (p.Ile1489Thr)
c.4436T>C (p.Ile1479Thr)
c.4361T>C (p.Ile1454Thr)
c.4259T>C (p.Ile1420Thr)
c.3890T>C (p.Ile1297Thr)
 ClinVar dbSNP
5g.112840333T>GCA16031727APCc.4793T>G (p.Ile1598Ser)
c.*4745T>G (n.*4745T>G)
c.4685T>G (p.Ile1562Ser)
c.4739T>G (p.Ile1580Ser)
c.*4061T>G (n.*4061T>G)
c.230+11361T>G
c.4769T>G (p.Ile1590Ser)
c.4664T>G (p.Ile1555Ser)
c.4655T>G (p.Ile1552Ser)
c.4616T>G (p.Ile1539Ser)
c.4562T>G (p.Ile1521Ser)
c.4466T>G (p.Ile1489Ser)
c.4436T>G (p.Ile1479Ser)
c.4361T>G (p.Ile1454Ser)
c.4259T>G (p.Ile1420Ser)
c.3890T>G (p.Ile1297Ser)
5g.112840333T=CA1573471243APCc.4793T= (p.Ile1598=)
c.*4745T= (n.*4745T=)
c.4685T= (p.Ile1562=)
c.4739T= (p.Ile1580=)
c.*4061T= (n.*4061T=)
c.230+11361T=
c.4769T= (p.Ile1590=)
c.4664T= (p.Ile1555=)
c.4655T= (p.Ile1552=)
c.4616T= (p.Ile1539=)
c.4562T= (p.Ile1521=)
c.4466T= (p.Ile1489=)
c.4436T= (p.Ile1479=)
c.4361T= (p.Ile1454=)
c.4259T= (p.Ile1420=)
c.3890T= (p.Ile1297=)
5g.112840335dupCA658760782APCc.4795dup (p.Ser1599PhefsTer10)
c.*4747dup (n.*4747dup)
c.4687dup (p.Ser1563PhefsTer10)
c.4741dup (p.Ser1581PhefsTer10)
c.*4063dup (n.*4063dup)
c.230+11363dup
c.4771dup (p.Ser1591PhefsTer10)
c.4666dup (p.Ser1556PhefsTer10)
c.4657dup (p.Ser1553PhefsTer10)
c.4618dup (p.Ser1540PhefsTer10)
c.4564dup (p.Ser1522PhefsTer10)
c.4468dup (p.Ser1490PhefsTer10)
c.4438dup (p.Ser1480PhefsTer10)
c.4363dup (p.Ser1455PhefsTer10)
c.4261dup (p.Ser1421PhefsTer10)
c.3892dup (p.Ser1298PhefsTer10)
5g.112840335delCA10588385APCc.4795del (p.Ser1599LeufsTer?)
c.*4747del (n.*4747del)
c.4687del (p.Ser1563LeufsTer?)
c.4741del (p.Ser1581LeufsTer?)
c.*4063del (n.*4063del)
c.230+11363del
c.4771del (p.Ser1591LeufsTer?)
c.4666del (p.Ser1556LeufsTer?)
c.4657del (p.Ser1553LeufsTer?)
c.4618del (p.Ser1540LeufsTer?)
c.4564del (p.Ser1522LeufsTer?)
c.4468del (p.Ser1490LeufsTer?)
c.4438del (p.Ser1480LeufsTer?)
c.4363del (p.Ser1455LeufsTer?)
c.4261del (p.Ser1421LeufsTer?)
c.3892del (p.Ser1298LeufsTer?)
 ClinVar dbSNP
5g.112840334T>ACA446206704APCc.4794T>A (p.Ile1598=)
c.*4746T>A (n.*4746T>A)
c.4686T>A (p.Ile1562=)
c.4740T>A (p.Ile1580=)
c.*4062T>A (n.*4062T>A)
c.230+11362T>A
c.4770T>A (p.Ile1590=)
c.4665T>A (p.Ile1555=)
c.4656T>A (p.Ile1552=)
c.4617T>A (p.Ile1539=)
c.4563T>A (p.Ile1521=)
c.4467T>A (p.Ile1489=)
c.4437T>A (p.Ile1479=)
c.4362T>A (p.Ile1454=)
c.4260T>A (p.Ile1420=)
c.3891T>A (p.Ile1297=)
5g.112840334T>CCA039642APCc.4794T>C (p.Ile1598=)
c.*4746T>C (n.*4746T>C)
c.4686T>C (p.Ile1562=)
c.4740T>C (p.Ile1580=)
c.*4062T>C (n.*4062T>C)
c.230+11362T>C
c.4770T>C (p.Ile1590=)
c.4665T>C (p.Ile1555=)
c.4656T>C (p.Ile1552=)
c.4617T>C (p.Ile1539=)
c.4563T>C (p.Ile1521=)
c.4467T>C (p.Ile1489=)
c.4437T>C (p.Ile1479=)
c.4362T>C (p.Ile1454=)
c.4260T>C (p.Ile1420=)
c.3891T>C (p.Ile1297=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840334T>GCA16031728APCc.4794T>G (p.Ile1598Met)
c.*4746T>G (n.*4746T>G)
c.4686T>G (p.Ile1562Met)
c.4740T>G (p.Ile1580Met)
c.*4062T>G (n.*4062T>G)
c.230+11362T>G
c.4770T>G (p.Ile1590Met)
c.4665T>G (p.Ile1555Met)
c.4656T>G (p.Ile1552Met)
c.4617T>G (p.Ile1539Met)
c.4563T>G (p.Ile1521Met)
c.4467T>G (p.Ile1489Met)
c.4437T>G (p.Ile1479Met)
c.4362T>G (p.Ile1454Met)
c.4260T>G (p.Ile1420Met)
c.3891T>G (p.Ile1297Met)
5g.112840334T=CA1573471250APCc.4794T= (p.Ile1598=)
c.*4746T= (n.*4746T=)
c.4686T= (p.Ile1562=)
c.4740T= (p.Ile1580=)
c.*4062T= (n.*4062T=)
c.230+11362T=
c.4770T= (p.Ile1590=)
c.4665T= (p.Ile1555=)
c.4656T= (p.Ile1552=)
c.4617T= (p.Ile1539=)
c.4563T= (p.Ile1521=)
c.4467T= (p.Ile1489=)
c.4437T= (p.Ile1479=)
c.4362T= (p.Ile1454=)
c.4260T= (p.Ile1420=)
c.3891T= (p.Ile1297=)
5g.112840335T>ACA16031729APCc.4795T>A (p.Ser1599Thr)
c.*4747T>A (n.*4747T>A)
c.4687T>A (p.Ser1563Thr)
c.4741T>A (p.Ser1581Thr)
c.*4063T>A (n.*4063T>A)
c.230+11363T>A
c.4771T>A (p.Ser1591Thr)
c.4666T>A (p.Ser1556Thr)
c.4657T>A (p.Ser1553Thr)
c.4618T>A (p.Ser1540Thr)
c.4564T>A (p.Ser1522Thr)
c.4468T>A (p.Ser1490Thr)
c.4438T>A (p.Ser1480Thr)
c.4363T>A (p.Ser1455Thr)
c.4261T>A (p.Ser1421Thr)
c.3892T>A (p.Ser1298Thr)
 dbSNP
5g.112840335T>CCA16031730APCc.4795T>C (p.Ser1599Pro)
c.*4747T>C (n.*4747T>C)
c.4687T>C (p.Ser1563Pro)
c.4741T>C (p.Ser1581Pro)
c.*4063T>C (n.*4063T>C)
c.230+11363T>C
c.4771T>C (p.Ser1591Pro)
c.4666T>C (p.Ser1556Pro)
c.4657T>C (p.Ser1553Pro)
c.4618T>C (p.Ser1540Pro)
c.4564T>C (p.Ser1522Pro)
c.4468T>C (p.Ser1490Pro)
c.4438T>C (p.Ser1480Pro)
c.4363T>C (p.Ser1455Pro)
c.4261T>C (p.Ser1421Pro)
c.3892T>C (p.Ser1298Pro)
5g.112840335T>GCA16031731APCc.4795T>G (p.Ser1599Ala)
c.*4747T>G (n.*4747T>G)
c.4687T>G (p.Ser1563Ala)
c.4741T>G (p.Ser1581Ala)
c.*4063T>G (n.*4063T>G)
c.230+11363T>G
c.4771T>G (p.Ser1591Ala)
c.4666T>G (p.Ser1556Ala)
c.4657T>G (p.Ser1553Ala)
c.4618T>G (p.Ser1540Ala)
c.4564T>G (p.Ser1522Ala)
c.4468T>G (p.Ser1490Ala)
c.4438T>G (p.Ser1480Ala)
c.4363T>G (p.Ser1455Ala)
c.4261T>G (p.Ser1421Ala)
c.3892T>G (p.Ser1298Ala)
5g.112840336_112840337dupCA645543985APCc.4796_4797dup (p.Ala1600LeufsTer?)
c.*4748_*4749dup (n.*4748_*4749dup)
c.4688_4689dup (p.Ala1564LeufsTer?)
c.4742_4743dup (p.Ala1582LeufsTer?)
c.*4064_*4065dup (n.*4064_*4065dup)
c.230+11364_230+11365dup
c.4772_4773dup (p.Ala1592LeufsTer?)
c.4667_4668dup (p.Ala1557LeufsTer?)
c.4658_4659dup (p.Ala1554LeufsTer?)
c.4619_4620dup (p.Ala1541LeufsTer?)
c.4565_4566dup (p.Ala1523LeufsTer?)
c.4469_4470dup (p.Ala1491LeufsTer?)
c.4439_4440dup (p.Ala1481LeufsTer?)
c.4364_4365dup (p.Ala1456LeufsTer?)
c.4262_4263dup (p.Ala1422LeufsTer?)
c.3893_3894dup (p.Ala1299LeufsTer?)
 COSMIC
5g.112840336_112840337delCA645543984APCc.4796_4797del (p.Ser1599CysfsTer9)
c.*4748_*4749del (n.*4748_*4749del)
c.4688_4689del (p.Ser1563CysfsTer9)
c.4742_4743del (p.Ser1581CysfsTer9)
c.*4064_*4065del (n.*4064_*4065del)
c.230+11364_230+11365del
c.4772_4773del (p.Ser1591CysfsTer9)
c.4667_4668del (p.Ser1556CysfsTer9)
c.4658_4659del (p.Ser1553CysfsTer9)
c.4619_4620del (p.Ser1540CysfsTer9)
c.4565_4566del (p.Ser1522CysfsTer9)
c.4469_4470del (p.Ser1490CysfsTer9)
c.4439_4440del (p.Ser1480CysfsTer9)
c.4364_4365del (p.Ser1455CysfsTer9)
c.4262_4263del (p.Ser1421CysfsTer9)
c.3893_3894del (p.Ser1298CysfsTer9)
 COSMIC
5g.112840336delCA2582341361APCc.4796del (p.Ser1599LeufsTer?)
c.*4748del (n.*4748del)
c.4688del (p.Ser1563LeufsTer?)
c.4742del (p.Ser1581LeufsTer?)
c.*4064del (n.*4064del)
c.230+11364del
c.4772del (p.Ser1591LeufsTer?)
c.4667del (p.Ser1556LeufsTer?)
c.4658del (p.Ser1553LeufsTer?)
c.4619del (p.Ser1540LeufsTer?)
c.4565del (p.Ser1522LeufsTer?)
c.4469del (p.Ser1490LeufsTer?)
c.4439del (p.Ser1480LeufsTer?)
c.4364del (p.Ser1455LeufsTer?)
c.4262del (p.Ser1421LeufsTer?)
c.3893del (p.Ser1298LeufsTer?)
 ClinVar
5g.112840336C>ACA16031732APCc.4796C>A (p.Ser1599Tyr)
c.*4748C>A (n.*4748C>A)
c.4688C>A (p.Ser1563Tyr)
c.4742C>A (p.Ser1581Tyr)
c.*4064C>A (n.*4064C>A)
c.230+11364C>A
c.4772C>A (p.Ser1591Tyr)
c.4667C>A (p.Ser1556Tyr)
c.4658C>A (p.Ser1553Tyr)
c.4619C>A (p.Ser1540Tyr)
c.4565C>A (p.Ser1522Tyr)
c.4469C>A (p.Ser1490Tyr)
c.4439C>A (p.Ser1480Tyr)
c.4364C>A (p.Ser1455Tyr)
c.4262C>A (p.Ser1421Tyr)
c.3893C>A (p.Ser1298Tyr)
5g.112840336C=CA1573471258APCc.4796C= (p.Ser1599=)
c.*4748C= (n.*4748C=)
c.4688C= (p.Ser1563=)
c.4742C= (p.Ser1581=)
c.*4064C= (n.*4064C=)
c.230+11364C=
c.4772C= (p.Ser1591=)
c.4667C= (p.Ser1556=)
c.4658C= (p.Ser1553=)
c.4619C= (p.Ser1540=)
c.4565C= (p.Ser1522=)
c.4469C= (p.Ser1490=)
c.4439C= (p.Ser1480=)
c.4364C= (p.Ser1455=)
c.4262C= (p.Ser1421=)
c.3893C= (p.Ser1298=)
5g.112840336C>GCA039671APCc.4796C>G (p.Ser1599Cys)
c.*4748C>G (n.*4748C>G)
c.4688C>G (p.Ser1563Cys)
c.4742C>G (p.Ser1581Cys)
c.*4064C>G (n.*4064C>G)
c.230+11364C>G
c.4772C>G (p.Ser1591Cys)
c.4667C>G (p.Ser1556Cys)
c.4658C>G (p.Ser1553Cys)
c.4619C>G (p.Ser1540Cys)
c.4565C>G (p.Ser1522Cys)
c.4469C>G (p.Ser1490Cys)
c.4439C>G (p.Ser1480Cys)
c.4364C>G (p.Ser1455Cys)
c.4262C>G (p.Ser1421Cys)
c.3893C>G (p.Ser1298Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840336C>TCA16031733APCc.4796C>T (p.Ser1599Phe)
c.*4748C>T (n.*4748C>T)
c.4688C>T (p.Ser1563Phe)
c.4742C>T (p.Ser1581Phe)
c.*4064C>T (n.*4064C>T)
c.230+11364C>T
c.4772C>T (p.Ser1591Phe)
c.4667C>T (p.Ser1556Phe)
c.4658C>T (p.Ser1553Phe)
c.4619C>T (p.Ser1540Phe)
c.4565C>T (p.Ser1522Phe)
c.4469C>T (p.Ser1490Phe)
c.4439C>T (p.Ser1480Phe)
c.4364C>T (p.Ser1455Phe)
c.4262C>T (p.Ser1421Phe)
c.3893C>T (p.Ser1298Phe)
 ClinVar dbSNP
5g.112840336_112840341delinsCTGCCACA1573471268APCc.4796_4801delinsCTGCCA (p.Ser1599=)
c.*4748_*4753delinsCTGCCA (n.*4748_*4753delinsCTGCCA)
c.4688_4693delinsCTGCCA (p.Ser1563=)
c.4742_4747delinsCTGCCA (p.Ser1581=)
c.*4064_*4069delinsCTGCCA (n.*4064_*4069delinsCTGCCA)
c.230+11364_230+11369delinsCTGCCA
c.4772_4777delinsCTGCCA (p.Ser1591=)
c.4667_4672delinsCTGCCA (p.Ser1556=)
c.4658_4663delinsCTGCCA (p.Ser1553=)
c.4619_4624delinsCTGCCA (p.Ser1540=)
c.4565_4570delinsCTGCCA (p.Ser1522=)
c.4469_4474delinsCTGCCA (p.Ser1490=)
c.4439_4444delinsCTGCCA (p.Ser1480=)
c.4364_4369delinsCTGCCA (p.Ser1455=)
c.4262_4267delinsCTGCCA (p.Ser1421=)
c.3893_3898delinsCTGCCA (p.Ser1298=)
5g.112840337T>ACA446206705APCc.4797T>A (p.Ser1599=)
c.*4749T>A (n.*4749T>A)
c.4689T>A (p.Ser1563=)
c.4743T>A (p.Ser1581=)
c.*4065T>A (n.*4065T>A)
c.230+11365T>A
c.4773T>A (p.Ser1591=)
c.4668T>A (p.Ser1556=)
c.4659T>A (p.Ser1553=)
c.4620T>A (p.Ser1540=)
c.4566T>A (p.Ser1522=)
c.4470T>A (p.Ser1490=)
c.4440T>A (p.Ser1480=)
c.4365T>A (p.Ser1455=)
c.4263T>A (p.Ser1421=)
c.3894T>A (p.Ser1298=)
 dbSNP
5g.112840337T>CCA446206706APCc.4797T>C (p.Ser1599=)
c.*4749T>C (n.*4749T>C)
c.4689T>C (p.Ser1563=)
c.4743T>C (p.Ser1581=)
c.*4065T>C (n.*4065T>C)
c.230+11365T>C
c.4773T>C (p.Ser1591=)
c.4668T>C (p.Ser1556=)
c.4659T>C (p.Ser1553=)
c.4620T>C (p.Ser1540=)
c.4566T>C (p.Ser1522=)
c.4470T>C (p.Ser1490=)
c.4440T>C (p.Ser1480=)
c.4365T>C (p.Ser1455=)
c.4263T>C (p.Ser1421=)
c.3894T>C (p.Ser1298=)
 ClinVar dbSNP gnomAD v4
5g.112840337T>GCA446206707APCc.4797T>G (p.Ser1599=)
c.*4749T>G (n.*4749T>G)
c.4689T>G (p.Ser1563=)
c.4743T>G (p.Ser1581=)
c.*4065T>G (n.*4065T>G)
c.230+11365T>G
c.4773T>G (p.Ser1591=)
c.4668T>G (p.Ser1556=)
c.4659T>G (p.Ser1553=)
c.4620T>G (p.Ser1540=)
c.4566T>G (p.Ser1522=)
c.4470T>G (p.Ser1490=)
c.4440T>G (p.Ser1480=)
c.4365T>G (p.Ser1455=)
c.4263T>G (p.Ser1421=)
c.3894T>G (p.Ser1298=)
 gnomAD v4
5g.112840337T=CA1573471275APCc.4797T= (p.Ser1599=)
c.*4749T= (n.*4749T=)
c.4689T= (p.Ser1563=)
c.4743T= (p.Ser1581=)
c.*4065T= (n.*4065T=)
c.230+11365T=
c.4773T= (p.Ser1591=)
c.4668T= (p.Ser1556=)
c.4659T= (p.Ser1553=)
c.4620T= (p.Ser1540=)
c.4566T= (p.Ser1522=)
c.4470T= (p.Ser1490=)
c.4440T= (p.Ser1480=)
c.4365T= (p.Ser1455=)
c.4263T= (p.Ser1421=)
c.3894T= (p.Ser1298=)
5g.112840342_112840346delCA279780APCc.4802_4806del (p.Met1601AsnfsTer6)
c.*4754_*4758del (n.*4754_*4758del)
c.4694_4698del (p.Met1565AsnfsTer6)
c.4748_4752del (p.Met1583AsnfsTer6)
c.*4070_*4074del (n.*4070_*4074del)
c.230+11370_230+11374del
c.4778_4782del (p.Met1593AsnfsTer6)
c.4673_4677del (p.Met1558AsnfsTer6)
c.4664_4668del (p.Met1555AsnfsTer6)
c.4625_4629del (p.Met1542AsnfsTer6)
c.4571_4575del (p.Met1524AsnfsTer6)
c.4475_4479del (p.Met1492AsnfsTer6)
c.4445_4449del (p.Met1482AsnfsTer6)
c.4370_4374del (p.Met1457AsnfsTer6)
c.4268_4272del (p.Met1423AsnfsTer6)
c.3899_3903del (p.Met1300AsnfsTer6)
 ClinVar dbSNP
5g.112840338delCA645543986APCc.4798del (p.Ala1600ProfsTer?)
c.*4750del (n.*4750del)
c.4690del (p.Ala1564ProfsTer?)
c.4744del (p.Ala1582ProfsTer?)
c.*4066del (n.*4066del)
c.230+11366del
c.4774del (p.Ala1592ProfsTer?)
c.4669del (p.Ala1557ProfsTer?)
c.4660del (p.Ala1554ProfsTer?)
c.4621del (p.Ala1541ProfsTer?)
c.4567del (p.Ala1523ProfsTer?)
c.4471del (p.Ala1491ProfsTer?)
c.4441del (p.Ala1481ProfsTer?)
c.4366del (p.Ala1456ProfsTer?)
c.4264del (p.Ala1422ProfsTer?)
c.3895del (p.Ala1299ProfsTer?)
 COSMIC
5g.112840338G>ACA16031734APCc.4798G>A (p.Ala1600Thr)
c.*4750G>A (n.*4750G>A)
c.4690G>A (p.Ala1564Thr)
c.4744G>A (p.Ala1582Thr)
c.*4066G>A (n.*4066G>A)
c.230+11366G>A
c.4774G>A (p.Ala1592Thr)
c.4669G>A (p.Ala1557Thr)
c.4660G>A (p.Ala1554Thr)
c.4621G>A (p.Ala1541Thr)
c.4567G>A (p.Ala1523Thr)
c.4471G>A (p.Ala1491Thr)
c.4441G>A (p.Ala1481Thr)
c.4366G>A (p.Ala1456Thr)
c.4264G>A (p.Ala1422Thr)
c.3895G>A (p.Ala1299Thr)
 ClinVar dbSNP COSMIC
5g.112840338G>CCA16031735APCc.4798G>C (p.Ala1600Pro)
c.*4750G>C (n.*4750G>C)
c.4690G>C (p.Ala1564Pro)
c.4744G>C (p.Ala1582Pro)
c.*4066G>C (n.*4066G>C)
c.230+11366G>C
c.4774G>C (p.Ala1592Pro)
c.4669G>C (p.Ala1557Pro)
c.4660G>C (p.Ala1554Pro)
c.4621G>C (p.Ala1541Pro)
c.4567G>C (p.Ala1523Pro)
c.4471G>C (p.Ala1491Pro)
c.4441G>C (p.Ala1481Pro)
c.4366G>C (p.Ala1456Pro)
c.4264G>C (p.Ala1422Pro)
c.3895G>C (p.Ala1299Pro)
 COSMIC
5g.112840338G=CA1573471282APCc.4798G= (p.Ala1600=)
c.*4750G= (n.*4750G=)
c.4690G= (p.Ala1564=)
c.4744G= (p.Ala1582=)
c.*4066G= (n.*4066G=)
c.230+11366G=
c.4774G= (p.Ala1592=)
c.4669G= (p.Ala1557=)
c.4660G= (p.Ala1554=)
c.4621G= (p.Ala1541=)
c.4567G= (p.Ala1523=)
c.4471G= (p.Ala1491=)
c.4441G= (p.Ala1481=)
c.4366G= (p.Ala1456=)
c.4264G= (p.Ala1422=)
c.3895G= (p.Ala1299=)
5g.112840338G>TCA16031736APCc.4798G>T (p.Ala1600Ser)
c.*4750G>T (n.*4750G>T)
c.4690G>T (p.Ala1564Ser)
c.4744G>T (p.Ala1582Ser)
c.*4066G>T (n.*4066G>T)
c.230+11366G>T
c.4774G>T (p.Ala1592Ser)
c.4669G>T (p.Ala1557Ser)
c.4660G>T (p.Ala1554Ser)
c.4621G>T (p.Ala1541Ser)
c.4567G>T (p.Ala1523Ser)
c.4471G>T (p.Ala1491Ser)
c.4441G>T (p.Ala1481Ser)
c.4366G>T (p.Ala1456Ser)
c.4264G>T (p.Ala1422Ser)
c.3895G>T (p.Ala1299Ser)
5g.112840339C>ACA16031737APCc.4799C>A (p.Ala1600Asp)
c.*4751C>A (n.*4751C>A)
c.4691C>A (p.Ala1564Asp)
c.4745C>A (p.Ala1582Asp)
c.*4067C>A (n.*4067C>A)
c.230+11367C>A
c.4775C>A (p.Ala1592Asp)
c.4670C>A (p.Ala1557Asp)
c.4661C>A (p.Ala1554Asp)
c.4622C>A (p.Ala1541Asp)
c.4568C>A (p.Ala1523Asp)
c.4472C>A (p.Ala1491Asp)
c.4442C>A (p.Ala1481Asp)
c.4367C>A (p.Ala1456Asp)
c.4265C>A (p.Ala1422Asp)
c.3896C>A (p.Ala1299Asp)
 dbSNP
5g.112840339C=CA1573471284APCc.4799C= (p.Ala1600=)
c.*4751C= (n.*4751C=)
c.4691C= (p.Ala1564=)
c.4745C= (p.Ala1582=)
c.*4067C= (n.*4067C=)
c.230+11367C=
c.4775C= (p.Ala1592=)
c.4670C= (p.Ala1557=)
c.4661C= (p.Ala1554=)
c.4622C= (p.Ala1541=)
c.4568C= (p.Ala1523=)
c.4472C= (p.Ala1491=)
c.4442C= (p.Ala1481=)
c.4367C= (p.Ala1456=)
c.4265C= (p.Ala1422=)
c.3896C= (p.Ala1299=)
5g.112840339C>GCA16031738APCc.4799C>G (p.Ala1600Gly)
c.*4751C>G (n.*4751C>G)
c.4691C>G (p.Ala1564Gly)
c.4745C>G (p.Ala1582Gly)
c.*4067C>G (n.*4067C>G)
c.230+11367C>G
c.4775C>G (p.Ala1592Gly)
c.4670C>G (p.Ala1557Gly)
c.4661C>G (p.Ala1554Gly)
c.4622C>G (p.Ala1541Gly)
c.4568C>G (p.Ala1523Gly)
c.4472C>G (p.Ala1491Gly)
c.4442C>G (p.Ala1481Gly)
c.4367C>G (p.Ala1456Gly)
c.4265C>G (p.Ala1422Gly)
c.3896C>G (p.Ala1299Gly)
 dbSNP
5g.112840339C>TCA16031739APCc.4799C>T (p.Ala1600Val)
c.*4751C>T (n.*4751C>T)
c.4691C>T (p.Ala1564Val)
c.4745C>T (p.Ala1582Val)
c.*4067C>T (n.*4067C>T)
c.230+11367C>T
c.4775C>T (p.Ala1592Val)
c.4670C>T (p.Ala1557Val)
c.4661C>T (p.Ala1554Val)
c.4622C>T (p.Ala1541Val)
c.4568C>T (p.Ala1523Val)
c.4472C>T (p.Ala1491Val)
c.4442C>T (p.Ala1481Val)
c.4367C>T (p.Ala1456Val)
c.4265C>T (p.Ala1422Val)
c.3896C>T (p.Ala1299Val)
 ClinVar dbSNP
5g.112840340C>ACA446206708APCc.4800C>A (p.Ala1600=)
c.*4752C>A (n.*4752C>A)
c.4692C>A (p.Ala1564=)
c.4746C>A (p.Ala1582=)
c.*4068C>A (n.*4068C>A)
c.230+11368C>A
c.4776C>A (p.Ala1592=)
c.4671C>A (p.Ala1557=)
c.4662C>A (p.Ala1554=)
c.4623C>A (p.Ala1541=)
c.4569C>A (p.Ala1523=)
c.4473C>A (p.Ala1491=)
c.4443C>A (p.Ala1481=)
c.4368C>A (p.Ala1456=)
c.4266C>A (p.Ala1422=)
c.3897C>A (p.Ala1299=)
 dbSNP
5g.112840340C>GCA446206709APCc.4800C>G (p.Ala1600=)
c.*4752C>G (n.*4752C>G)
c.4692C>G (p.Ala1564=)
c.4746C>G (p.Ala1582=)
c.*4068C>G (n.*4068C>G)
c.230+11368C>G
c.4776C>G (p.Ala1592=)
c.4671C>G (p.Ala1557=)
c.4662C>G (p.Ala1554=)
c.4623C>G (p.Ala1541=)
c.4569C>G (p.Ala1523=)
c.4473C>G (p.Ala1491=)
c.4443C>G (p.Ala1481=)
c.4368C>G (p.Ala1456=)
c.4266C>G (p.Ala1422=)
c.3897C>G (p.Ala1299=)
 ClinVar dbSNP
5g.112840340C>TCA446206710APCc.4800C>T (p.Ala1600=)
c.*4752C>T (n.*4752C>T)
c.4692C>T (p.Ala1564=)
c.4746C>T (p.Ala1582=)
c.*4068C>T (n.*4068C>T)
c.230+11368C>T
c.4776C>T (p.Ala1592=)
c.4671C>T (p.Ala1557=)
c.4662C>T (p.Ala1554=)
c.4623C>T (p.Ala1541=)
c.4569C>T (p.Ala1523=)
c.4473C>T (p.Ala1491=)
c.4443C>T (p.Ala1481=)
c.4368C>T (p.Ala1456=)
c.4266C>T (p.Ala1422=)
c.3897C>T (p.Ala1299=)
 ClinVar dbSNP
5g.112840341A=CA1573471287APCc.4801A= (p.Met1601=)
c.*4753A= (n.*4753A=)
c.4693A= (p.Met1565=)
c.4747A= (p.Met1583=)
c.*4069A= (n.*4069A=)
c.230+11369A=
c.4777A= (p.Met1593=)
c.4672A= (p.Met1558=)
c.4663A= (p.Met1555=)
c.4624A= (p.Met1542=)
c.4570A= (p.Met1524=)
c.4474A= (p.Met1492=)
c.4444A= (p.Met1482=)
c.4369A= (p.Met1457=)
c.4267A= (p.Met1423=)
c.3898A= (p.Met1300=)
5g.112840341A>CCA16031740APCc.4801A>C (p.Met1601Leu)
c.*4753A>C (n.*4753A>C)
c.4693A>C (p.Met1565Leu)
c.4747A>C (p.Met1583Leu)
c.*4069A>C (n.*4069A>C)
c.230+11369A>C
c.4777A>C (p.Met1593Leu)
c.4672A>C (p.Met1558Leu)
c.4663A>C (p.Met1555Leu)
c.4624A>C (p.Met1542Leu)
c.4570A>C (p.Met1524Leu)
c.4474A>C (p.Met1492Leu)
c.4444A>C (p.Met1482Leu)
c.4369A>C (p.Met1457Leu)
c.4267A>C (p.Met1423Leu)
c.3898A>C (p.Met1300Leu)
 ClinVar dbSNP gnomAD v4
5g.112840341A>GCA039697APCc.4801A>G (p.Met1601Val)
c.*4753A>G (n.*4753A>G)
c.4693A>G (p.Met1565Val)
c.4747A>G (p.Met1583Val)
c.*4069A>G (n.*4069A>G)
c.230+11369A>G
c.4777A>G (p.Met1593Val)
c.4672A>G (p.Met1558Val)
c.4663A>G (p.Met1555Val)
c.4624A>G (p.Met1542Val)
c.4570A>G (p.Met1524Val)
c.4474A>G (p.Met1492Val)
c.4444A>G (p.Met1482Val)
c.4369A>G (p.Met1457Val)
c.4267A>G (p.Met1423Val)
c.3898A>G (p.Met1300Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112840341A>TCA039719APCc.4801A>T (p.Met1601Leu)
c.*4753A>T (n.*4753A>T)
c.4693A>T (p.Met1565Leu)
c.4747A>T (p.Met1583Leu)
c.*4069A>T (n.*4069A>T)
c.230+11369A>T
c.4777A>T (p.Met1593Leu)
c.4672A>T (p.Met1558Leu)
c.4663A>T (p.Met1555Leu)
c.4624A>T (p.Met1542Leu)
c.4570A>T (p.Met1524Leu)
c.4474A>T (p.Met1492Leu)
c.4444A>T (p.Met1482Leu)
c.4369A>T (p.Met1457Leu)
c.4267A>T (p.Met1423Leu)
c.3898A>T (p.Met1300Leu)
 dbSNP ExAC
5g.112840342T>ACA16031741APCc.4802T>A (p.Met1601Lys)
c.*4754T>A (n.*4754T>A)
c.4694T>A (p.Met1565Lys)
c.4748T>A (p.Met1583Lys)
c.*4070T>A (n.*4070T>A)
c.230+11370T>A
c.4778T>A (p.Met1593Lys)
c.4673T>A (p.Met1558Lys)
c.4664T>A (p.Met1555Lys)
c.4625T>A (p.Met1542Lys)
c.4571T>A (p.Met1524Lys)
c.4475T>A (p.Met1492Lys)
c.4445T>A (p.Met1482Lys)
c.4370T>A (p.Met1457Lys)
c.4268T>A (p.Met1423Lys)
c.3899T>A (p.Met1300Lys)
 dbSNP
5g.112840342T>CCA16031742APCc.4802T>C (p.Met1601Thr)
c.*4754T>C (n.*4754T>C)
c.4694T>C (p.Met1565Thr)
c.4748T>C (p.Met1583Thr)
c.*4070T>C (n.*4070T>C)
c.230+11370T>C
c.4778T>C (p.Met1593Thr)
c.4673T>C (p.Met1558Thr)
c.4664T>C (p.Met1555Thr)
c.4625T>C (p.Met1542Thr)
c.4571T>C (p.Met1524Thr)
c.4475T>C (p.Met1492Thr)
c.4445T>C (p.Met1482Thr)
c.4370T>C (p.Met1457Thr)
c.4268T>C (p.Met1423Thr)
c.3899T>C (p.Met1300Thr)
5g.112840342T>GCA16031743APCc.4802T>G (p.Met1601Arg)
c.*4754T>G (n.*4754T>G)
c.4694T>G (p.Met1565Arg)
c.4748T>G (p.Met1583Arg)
c.*4070T>G (n.*4070T>G)
c.230+11370T>G
c.4778T>G (p.Met1593Arg)
c.4673T>G (p.Met1558Arg)
c.4664T>G (p.Met1555Arg)
c.4625T>G (p.Met1542Arg)
c.4571T>G (p.Met1524Arg)
c.4475T>G (p.Met1492Arg)
c.4445T>G (p.Met1482Arg)
c.4370T>G (p.Met1457Arg)
c.4268T>G (p.Met1423Arg)
c.3899T>G (p.Met1300Arg)
5g.112840343G>ACA16031744APCc.4803G>A (p.Met1601Ile)
c.*4755G>A (n.*4755G>A)
c.4695G>A (p.Met1565Ile)
c.4749G>A (p.Met1583Ile)
c.*4071G>A (n.*4071G>A)
c.230+11371G>A
c.4779G>A (p.Met1593Ile)
c.4674G>A (p.Met1558Ile)
c.4665G>A (p.Met1555Ile)
c.4626G>A (p.Met1542Ile)
c.4572G>A (p.Met1524Ile)
c.4476G>A (p.Met1492Ile)
c.4446G>A (p.Met1482Ile)
c.4371G>A (p.Met1457Ile)
c.4269G>A (p.Met1423Ile)
c.3900G>A (p.Met1300Ile)
 ClinVar dbSNP COSMIC
5g.112840343G>CCA16031745APCc.4803G>C (p.Met1601Ile)
c.*4755G>C (n.*4755G>C)
c.4695G>C (p.Met1565Ile)
c.4749G>C (p.Met1583Ile)
c.*4071G>C (n.*4071G>C)
c.230+11371G>C
c.4779G>C (p.Met1593Ile)
c.4674G>C (p.Met1558Ile)
c.4665G>C (p.Met1555Ile)
c.4626G>C (p.Met1542Ile)
c.4572G>C (p.Met1524Ile)
c.4476G>C (p.Met1492Ile)
c.4446G>C (p.Met1482Ile)
c.4371G>C (p.Met1457Ile)
c.4269G>C (p.Met1423Ile)
c.3900G>C (p.Met1300Ile)
5g.112840343G>TCA16031746APCc.4803G>T (p.Met1601Ile)
c.*4755G>T (n.*4755G>T)
c.4695G>T (p.Met1565Ile)
c.4749G>T (p.Met1583Ile)
c.*4071G>T (n.*4071G>T)
c.230+11371G>T
c.4779G>T (p.Met1593Ile)
c.4674G>T (p.Met1558Ile)
c.4665G>T (p.Met1555Ile)
c.4626G>T (p.Met1542Ile)
c.4572G>T (p.Met1524Ile)
c.4476G>T (p.Met1492Ile)
c.4446G>T (p.Met1482Ile)
c.4371G>T (p.Met1457Ile)
c.4269G>T (p.Met1423Ile)
c.3900G>T (p.Met1300Ile)
5g.112840344C>ACA16031747APCc.4804C>A (p.Pro1602Thr)
c.*4756C>A (n.*4756C>A)
c.4696C>A (p.Pro1566Thr)
c.4750C>A (p.Pro1584Thr)
c.*4072C>A (n.*4072C>A)
c.230+11372C>A
c.4780C>A (p.Pro1594Thr)
c.4675C>A (p.Pro1559Thr)
c.4666C>A (p.Pro1556Thr)
c.4627C>A (p.Pro1543Thr)
c.4573C>A (p.Pro1525Thr)
c.4477C>A (p.Pro1493Thr)
c.4447C>A (p.Pro1483Thr)
c.4372C>A (p.Pro1458Thr)
c.4270C>A (p.Pro1424Thr)
c.3901C>A (p.Pro1301Thr)
 ClinVar dbSNP
5g.112840344C=CA1573471292APCc.4804C= (p.Pro1602=)
c.*4756C= (n.*4756C=)
c.4696C= (p.Pro1566=)
c.4750C= (p.Pro1584=)
c.*4072C= (n.*4072C=)
c.230+11372C=
c.4780C= (p.Pro1594=)
c.4675C= (p.Pro1559=)
c.4666C= (p.Pro1556=)
c.4627C= (p.Pro1543=)
c.4573C= (p.Pro1525=)
c.4477C= (p.Pro1493=)
c.4447C= (p.Pro1483=)
c.4372C= (p.Pro1458=)
c.4270C= (p.Pro1424=)
c.3901C= (p.Pro1301=)
5g.112840344C>GCA16031748APCc.4804C>G (p.Pro1602Ala)
c.*4756C>G (n.*4756C>G)
c.4696C>G (p.Pro1566Ala)
c.4750C>G (p.Pro1584Ala)
c.*4072C>G (n.*4072C>G)
c.230+11372C>G
c.4780C>G (p.Pro1594Ala)
c.4675C>G (p.Pro1559Ala)
c.4666C>G (p.Pro1556Ala)
c.4627C>G (p.Pro1543Ala)
c.4573C>G (p.Pro1525Ala)
c.4477C>G (p.Pro1493Ala)
c.4447C>G (p.Pro1483Ala)
c.4372C>G (p.Pro1458Ala)
c.4270C>G (p.Pro1424Ala)
c.3901C>G (p.Pro1301Ala)
 ClinVar dbSNP
5g.112840344C>TCA16031749APCc.4804C>T (p.Pro1602Ser)
c.*4756C>T (n.*4756C>T)
c.4696C>T (p.Pro1566Ser)
c.4750C>T (p.Pro1584Ser)
c.*4072C>T (n.*4072C>T)
c.230+11372C>T
c.4780C>T (p.Pro1594Ser)
c.4675C>T (p.Pro1559Ser)
c.4666C>T (p.Pro1556Ser)
c.4627C>T (p.Pro1543Ser)
c.4573C>T (p.Pro1525Ser)
c.4477C>T (p.Pro1493Ser)
c.4447C>T (p.Pro1483Ser)
c.4372C>T (p.Pro1458Ser)
c.4270C>T (p.Pro1424Ser)
c.3901C>T (p.Pro1301Ser)
 dbSNP
5g.112840345C>ACA16031750APCc.4805C>A (p.Pro1602Gln)
c.*4757C>A (n.*4757C>A)
c.4697C>A (p.Pro1566Gln)
c.4751C>A (p.Pro1584Gln)
c.*4073C>A (n.*4073C>A)
c.230+11373C>A
c.4781C>A (p.Pro1594Gln)
c.4676C>A (p.Pro1559Gln)
c.4667C>A (p.Pro1556Gln)
c.4628C>A (p.Pro1543Gln)
c.4574C>A (p.Pro1525Gln)
c.4478C>A (p.Pro1493Gln)
c.4448C>A (p.Pro1483Gln)
c.4373C>A (p.Pro1458Gln)
c.4271C>A (p.Pro1424Gln)
c.3902C>A (p.Pro1301Gln)
 dbSNP
5g.112840345C>GCA16031751APCc.4805C>G (p.Pro1602Arg)
c.*4757C>G (n.*4757C>G)
c.4697C>G (p.Pro1566Arg)
c.4751C>G (p.Pro1584Arg)
c.*4073C>G (n.*4073C>G)
c.230+11373C>G
c.4781C>G (p.Pro1594Arg)
c.4676C>G (p.Pro1559Arg)
c.4667C>G (p.Pro1556Arg)
c.4628C>G (p.Pro1543Arg)
c.4574C>G (p.Pro1525Arg)
c.4478C>G (p.Pro1493Arg)
c.4448C>G (p.Pro1483Arg)
c.4373C>G (p.Pro1458Arg)
c.4271C>G (p.Pro1424Arg)
c.3902C>G (p.Pro1301Arg)
 dbSNP
5g.112840345C>TCA16031752APCc.4805C>T (p.Pro1602Leu)
c.*4757C>T (n.*4757C>T)
c.4697C>T (p.Pro1566Leu)
c.4751C>T (p.Pro1584Leu)
c.*4073C>T (n.*4073C>T)
c.230+11373C>T
c.4781C>T (p.Pro1594Leu)
c.4676C>T (p.Pro1559Leu)
c.4667C>T (p.Pro1556Leu)
c.4628C>T (p.Pro1543Leu)
c.4574C>T (p.Pro1525Leu)
c.4478C>T (p.Pro1493Leu)
c.4448C>T (p.Pro1483Leu)
c.4373C>T (p.Pro1458Leu)
c.4271C>T (p.Pro1424Leu)
c.3902C>T (p.Pro1301Leu)
 dbSNP
5g.112840346A=CA1573471300APCc.4806A= (p.Pro1602=)
c.*4758A= (n.*4758A=)
c.4698A= (p.Pro1566=)
c.4752A= (p.Pro1584=)
c.*4074A= (n.*4074A=)
c.230+11374A=
c.4782A= (p.Pro1594=)
c.4677A= (p.Pro1559=)
c.4668A= (p.Pro1556=)
c.4629A= (p.Pro1543=)
c.4575A= (p.Pro1525=)
c.4479A= (p.Pro1493=)
c.4449A= (p.Pro1483=)
c.4374A= (p.Pro1458=)
c.4272A= (p.Pro1424=)
c.3903A= (p.Pro1301=)
5g.112840346A>CCA446206711APCc.4806A>C (p.Pro1602=)
c.*4758A>C (n.*4758A>C)
c.4698A>C (p.Pro1566=)
c.4752A>C (p.Pro1584=)
c.*4074A>C (n.*4074A>C)
c.230+11374A>C
c.4782A>C (p.Pro1594=)
c.4677A>C (p.Pro1559=)
c.4668A>C (p.Pro1556=)
c.4629A>C (p.Pro1543=)
c.4575A>C (p.Pro1525=)
c.4479A>C (p.Pro1493=)
c.4449A>C (p.Pro1483=)
c.4374A>C (p.Pro1458=)
c.4272A>C (p.Pro1424=)
c.3903A>C (p.Pro1301=)
 ClinVar dbSNP gnomAD v4
5g.112840346A>GCA446206712APCc.4806A>G (p.Pro1602=)
c.*4758A>G (n.*4758A>G)
c.4698A>G (p.Pro1566=)
c.4752A>G (p.Pro1584=)
c.*4074A>G (n.*4074A>G)
c.230+11374A>G
c.4782A>G (p.Pro1594=)
c.4677A>G (p.Pro1559=)
c.4668A>G (p.Pro1556=)
c.4629A>G (p.Pro1543=)
c.4575A>G (p.Pro1525=)
c.4479A>G (p.Pro1493=)
c.4449A>G (p.Pro1483=)
c.4374A>G (p.Pro1458=)
c.4272A>G (p.Pro1424=)
c.3903A>G (p.Pro1301=)
 ClinVar dbSNP gnomAD v4
5g.112840346A>TCA446206713APCc.4806A>T (p.Pro1602=)
c.*4758A>T (n.*4758A>T)
c.4698A>T (p.Pro1566=)
c.4752A>T (p.Pro1584=)
c.*4074A>T (n.*4074A>T)
c.230+11374A>T
c.4782A>T (p.Pro1594=)
c.4677A>T (p.Pro1559=)
c.4668A>T (p.Pro1556=)
c.4629A>T (p.Pro1543=)
c.4575A>T (p.Pro1525=)
c.4479A>T (p.Pro1493=)
c.4449A>T (p.Pro1483=)
c.4374A>T (p.Pro1458=)
c.4272A>T (p.Pro1424=)
c.3903A>T (p.Pro1301=)
 dbSNP
5g.112840347A>CCA16031753APCc.4807A>C (p.Thr1603Pro)
c.*4759A>C (n.*4759A>C)
c.4699A>C (p.Thr1567Pro)
c.4753A>C (p.Thr1585Pro)
c.*4075A>C (n.*4075A>C)
c.230+11375A>C
c.4783A>C (p.Thr1595Pro)
c.4678A>C (p.Thr1560Pro)
c.4669A>C (p.Thr1557Pro)
c.4630A>C (p.Thr1544Pro)
c.4576A>C (p.Thr1526Pro)
c.4480A>C (p.Thr1494Pro)
c.4450A>C (p.Thr1484Pro)
c.4375A>C (p.Thr1459Pro)
c.4273A>C (p.Thr1425Pro)
c.3904A>C (p.Thr1302Pro)
 ClinVar dbSNP
5g.112840347A>GCA16031754APCc.4807A>G (p.Thr1603Ala)
c.*4759A>G (n.*4759A>G)
c.4699A>G (p.Thr1567Ala)
c.4753A>G (p.Thr1585Ala)
c.*4075A>G (n.*4075A>G)
c.230+11375A>G
c.4783A>G (p.Thr1595Ala)
c.4678A>G (p.Thr1560Ala)
c.4669A>G (p.Thr1557Ala)
c.4630A>G (p.Thr1544Ala)
c.4576A>G (p.Thr1526Ala)
c.4480A>G (p.Thr1494Ala)
c.4450A>G (p.Thr1484Ala)
c.4375A>G (p.Thr1459Ala)
c.4273A>G (p.Thr1425Ala)
c.3904A>G (p.Thr1302Ala)
 ClinVar dbSNP gnomAD v4
5g.112840347A>TCA16031755APCc.4807A>T (p.Thr1603Ser)
c.*4759A>T (n.*4759A>T)
c.4699A>T (p.Thr1567Ser)
c.4753A>T (p.Thr1585Ser)
c.*4075A>T (n.*4075A>T)
c.230+11375A>T
c.4783A>T (p.Thr1595Ser)
c.4678A>T (p.Thr1560Ser)
c.4669A>T (p.Thr1557Ser)
c.4630A>T (p.Thr1544Ser)
c.4576A>T (p.Thr1526Ser)
c.4480A>T (p.Thr1494Ser)
c.4450A>T (p.Thr1484Ser)
c.4375A>T (p.Thr1459Ser)
c.4273A>T (p.Thr1425Ser)
c.3904A>T (p.Thr1302Ser)
 dbSNP
5g.112840348C>ACA16031756APCc.4808C>A (p.Thr1603Lys)
c.*4760C>A (n.*4760C>A)
c.4700C>A (p.Thr1567Lys)
c.4754C>A (p.Thr1585Lys)
c.*4076C>A (n.*4076C>A)
c.230+11376C>A
c.4784C>A (p.Thr1595Lys)
c.4679C>A (p.Thr1560Lys)
c.4670C>A (p.Thr1557Lys)
c.4631C>A (p.Thr1544Lys)
c.4577C>A (p.Thr1526Lys)
c.4481C>A (p.Thr1494Lys)
c.4451C>A (p.Thr1484Lys)
c.4376C>A (p.Thr1459Lys)
c.4274C>A (p.Thr1425Lys)
c.3905C>A (p.Thr1302Lys)
5g.112840348C=CA1573471308APCc.4808C= (p.Thr1603=)
c.*4760C= (n.*4760C=)
c.4700C= (p.Thr1567=)
c.4754C= (p.Thr1585=)
c.*4076C= (n.*4076C=)
c.230+11376C=
c.4784C= (p.Thr1595=)
c.4679C= (p.Thr1560=)
c.4670C= (p.Thr1557=)
c.4631C= (p.Thr1544=)
c.4577C= (p.Thr1526=)
c.4481C= (p.Thr1494=)
c.4451C= (p.Thr1484=)
c.4376C= (p.Thr1459=)
c.4274C= (p.Thr1425=)
c.3905C= (p.Thr1302=)
5g.112840348C>GCA16031757APCc.4808C>G (p.Thr1603Arg)
c.*4760C>G (n.*4760C>G)
c.4700C>G (p.Thr1567Arg)
c.4754C>G (p.Thr1585Arg)
c.*4076C>G (n.*4076C>G)
c.230+11376C>G
c.4784C>G (p.Thr1595Arg)
c.4679C>G (p.Thr1560Arg)
c.4670C>G (p.Thr1557Arg)
c.4631C>G (p.Thr1544Arg)
c.4577C>G (p.Thr1526Arg)
c.4481C>G (p.Thr1494Arg)
c.4451C>G (p.Thr1484Arg)
c.4376C>G (p.Thr1459Arg)
c.4274C>G (p.Thr1425Arg)
c.3905C>G (p.Thr1302Arg)
 ClinVar dbSNP gnomAD v4
5g.112840348C>TCA16031758APCc.4808C>T (p.Thr1603Ile)
c.*4760C>T (n.*4760C>T)
c.4700C>T (p.Thr1567Ile)
c.4754C>T (p.Thr1585Ile)
c.*4076C>T (n.*4076C>T)
c.230+11376C>T
c.4784C>T (p.Thr1595Ile)
c.4679C>T (p.Thr1560Ile)
c.4670C>T (p.Thr1557Ile)
c.4631C>T (p.Thr1544Ile)
c.4577C>T (p.Thr1526Ile)
c.4481C>T (p.Thr1494Ile)
c.4451C>T (p.Thr1484Ile)
c.4376C>T (p.Thr1459Ile)
c.4274C>T (p.Thr1425Ile)
c.3905C>T (p.Thr1302Ile)
 COSMIC
5g.112840349A>CCA446206714APCc.4809A>C (p.Thr1603=)
c.*4761A>C (n.*4761A>C)
c.4701A>C (p.Thr1567=)
c.4755A>C (p.Thr1585=)
c.*4077A>C (n.*4077A>C)
c.230+11377A>C
c.4785A>C (p.Thr1595=)
c.4680A>C (p.Thr1560=)
c.4671A>C (p.Thr1557=)
c.4632A>C (p.Thr1544=)
c.4578A>C (p.Thr1526=)
c.4482A>C (p.Thr1494=)
c.4452A>C (p.Thr1484=)
c.4377A>C (p.Thr1459=)
c.4275A>C (p.Thr1425=)
c.3906A>C (p.Thr1302=)
5g.112840349A>GCA446206716APCc.4809A>G (p.Thr1603=)
c.*4761A>G (n.*4761A>G)
c.4701A>G (p.Thr1567=)
c.4755A>G (p.Thr1585=)
c.*4077A>G (n.*4077A>G)
c.230+11377A>G
c.4785A>G (p.Thr1595=)
c.4680A>G (p.Thr1560=)
c.4671A>G (p.Thr1557=)
c.4632A>G (p.Thr1544=)
c.4578A>G (p.Thr1526=)
c.4482A>G (p.Thr1494=)
c.4452A>G (p.Thr1484=)
c.4377A>G (p.Thr1459=)
c.4275A>G (p.Thr1425=)
c.3906A>G (p.Thr1302=)
 ClinVar dbSNP gnomAD v4
5g.112840349A>TCA446206715APCc.4809A>T (p.Thr1603=)
c.*4761A>T (n.*4761A>T)
c.4701A>T (p.Thr1567=)
c.4755A>T (p.Thr1585=)
c.*4077A>T (n.*4077A>T)
c.230+11377A>T
c.4785A>T (p.Thr1595=)
c.4680A>T (p.Thr1560=)
c.4671A>T (p.Thr1557=)
c.4632A>T (p.Thr1544=)
c.4578A>T (p.Thr1526=)
c.4482A>T (p.Thr1494=)
c.4452A>T (p.Thr1484=)
c.4377A>T (p.Thr1459=)
c.4275A>T (p.Thr1425=)
c.3906A>T (p.Thr1302=)
 dbSNP
5g.112840350_112840351delCA2582341366APCc.4810_4811del (p.Lys1604ValfsTer4)
c.*4762_*4763del (n.*4762_*4763del)
c.4702_4703del (p.Lys1568ValfsTer4)
c.4756_4757del (p.Lys1586ValfsTer4)
c.*4078_*4079del (n.*4078_*4079del)
c.230+11378_230+11379del
c.4786_4787del (p.Lys1596ValfsTer4)
c.4681_4682del (p.Lys1561ValfsTer4)
c.4672_4673del (p.Lys1558ValfsTer4)
c.4633_4634del (p.Lys1545ValfsTer4)
c.4579_4580del (p.Lys1527ValfsTer4)
c.4483_4484del (p.Lys1495ValfsTer4)
c.4453_4454del (p.Lys1485ValfsTer4)
c.4378_4379del (p.Lys1460ValfsTer4)
c.4276_4277del (p.Lys1426ValfsTer4)
c.3907_3908del (p.Lys1303ValfsTer4)
 ClinVar
5g.112840350A>CCA16031759APCc.4810A>C (p.Lys1604Gln)
c.*4762A>C (n.*4762A>C)
c.4702A>C (p.Lys1568Gln)
c.4756A>C (p.Lys1586Gln)
c.*4078A>C (n.*4078A>C)
c.230+11378A>C
c.4786A>C (p.Lys1596Gln)
c.4681A>C (p.Lys1561Gln)
c.4672A>C (p.Lys1558Gln)
c.4633A>C (p.Lys1545Gln)
c.4579A>C (p.Lys1527Gln)
c.4483A>C (p.Lys1495Gln)
c.4453A>C (p.Lys1485Gln)
c.4378A>C (p.Lys1460Gln)
c.4276A>C (p.Lys1426Gln)
c.3907A>C (p.Lys1303Gln)
 dbSNP
5g.112840350A>GCA16031760APCc.4810A>G (p.Lys1604Glu)
c.*4762A>G (n.*4762A>G)
c.4702A>G (p.Lys1568Glu)
c.4756A>G (p.Lys1586Glu)
c.*4078A>G (n.*4078A>G)
c.230+11378A>G
c.4786A>G (p.Lys1596Glu)
c.4681A>G (p.Lys1561Glu)
c.4672A>G (p.Lys1558Glu)
c.4633A>G (p.Lys1545Glu)
c.4579A>G (p.Lys1527Glu)
c.4483A>G (p.Lys1495Glu)
c.4453A>G (p.Lys1485Glu)
c.4378A>G (p.Lys1460Glu)
c.4276A>G (p.Lys1426Glu)
c.3907A>G (p.Lys1303Glu)
 ClinVar dbSNP gnomAD v4
5g.112840350A>TCA16031761APCc.4810A>T (p.Lys1604Ter)
c.*4762A>T (n.*4762A>T)
c.4702A>T (p.Lys1568Ter)
c.4756A>T (p.Lys1586Ter)
c.*4078A>T (n.*4078A>T)
c.230+11378A>T
c.4786A>T (p.Lys1596Ter)
c.4681A>T (p.Lys1561Ter)
c.4672A>T (p.Lys1558Ter)
c.4633A>T (p.Lys1545Ter)
c.4579A>T (p.Lys1527Ter)
c.4483A>T (p.Lys1495Ter)
c.4453A>T (p.Lys1485Ter)
c.4378A>T (p.Lys1460Ter)
c.4276A>T (p.Lys1426Ter)
c.3907A>T (p.Lys1303Ter)
 dbSNP
5g.112840351A=CA1573471309APCc.4811A= (p.Lys1604=)
c.*4763A= (n.*4763A=)
c.4703A= (p.Lys1568=)
c.4757A= (p.Lys1586=)
c.*4079A= (n.*4079A=)
c.230+11379A=
c.4787A= (p.Lys1596=)
c.4682A= (p.Lys1561=)
c.4673A= (p.Lys1558=)
c.4634A= (p.Lys1545=)
c.4580A= (p.Lys1527=)
c.4484A= (p.Lys1495=)
c.4454A= (p.Lys1485=)
c.4379A= (p.Lys1460=)
c.4277A= (p.Lys1426=)
c.3908A= (p.Lys1303=)
5g.112840351A>CCA16031762APCc.4811A>C (p.Lys1604Thr)
c.*4763A>C (n.*4763A>C)
c.4703A>C (p.Lys1568Thr)
c.4757A>C (p.Lys1586Thr)
c.*4079A>C (n.*4079A>C)
c.230+11379A>C
c.4787A>C (p.Lys1596Thr)
c.4682A>C (p.Lys1561Thr)
c.4673A>C (p.Lys1558Thr)
c.4634A>C (p.Lys1545Thr)
c.4580A>C (p.Lys1527Thr)
c.4484A>C (p.Lys1495Thr)
c.4454A>C (p.Lys1485Thr)
c.4379A>C (p.Lys1460Thr)
c.4277A>C (p.Lys1426Thr)
c.3908A>C (p.Lys1303Thr)
 dbSNP
5g.112840351A>GCA16031763APCc.4811A>G (p.Lys1604Arg)
c.*4763A>G (n.*4763A>G)
c.4703A>G (p.Lys1568Arg)
c.4757A>G (p.Lys1586Arg)
c.*4079A>G (n.*4079A>G)
c.230+11379A>G
c.4787A>G (p.Lys1596Arg)
c.4682A>G (p.Lys1561Arg)
c.4673A>G (p.Lys1558Arg)
c.4634A>G (p.Lys1545Arg)
c.4580A>G (p.Lys1527Arg)
c.4484A>G (p.Lys1495Arg)
c.4454A>G (p.Lys1485Arg)
c.4379A>G (p.Lys1460Arg)
c.4277A>G (p.Lys1426Arg)
c.3908A>G (p.Lys1303Arg)
 dbSNP
5g.112840351A>TCA039747APCc.4811A>T (p.Lys1604Met)
c.*4763A>T (n.*4763A>T)
c.4703A>T (p.Lys1568Met)
c.4757A>T (p.Lys1586Met)
c.*4079A>T (n.*4079A>T)
c.230+11379A>T
c.4787A>T (p.Lys1596Met)
c.4682A>T (p.Lys1561Met)
c.4673A>T (p.Lys1558Met)
c.4634A>T (p.Lys1545Met)
c.4580A>T (p.Lys1527Met)
c.4484A>T (p.Lys1495Met)
c.4454A>T (p.Lys1485Met)
c.4379A>T (p.Lys1460Met)
c.4277A>T (p.Lys1426Met)
c.3908A>T (p.Lys1303Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840352G>ACA16611656APCc.4812G>A (p.Lys1604=)
c.*4764G>A (n.*4764G>A)
c.4704G>A (p.Lys1568=)
c.4758G>A (p.Lys1586=)
c.*4080G>A (n.*4080G>A)
c.230+11380G>A
c.4788G>A (p.Lys1596=)
c.4683G>A (p.Lys1561=)
c.4674G>A (p.Lys1558=)
c.4635G>A (p.Lys1545=)
c.4581G>A (p.Lys1527=)
c.4485G>A (p.Lys1495=)
c.4455G>A (p.Lys1485=)
c.4380G>A (p.Lys1460=)
c.4278G>A (p.Lys1426=)
c.3909G>A (p.Lys1303=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840352G>CCA16031764APCc.4812G>C (p.Lys1604Asn)
c.*4764G>C (n.*4764G>C)
c.4704G>C (p.Lys1568Asn)
c.4758G>C (p.Lys1586Asn)
c.*4080G>C (n.*4080G>C)
c.230+11380G>C
c.4788G>C (p.Lys1596Asn)
c.4683G>C (p.Lys1561Asn)
c.4674G>C (p.Lys1558Asn)
c.4635G>C (p.Lys1545Asn)
c.4581G>C (p.Lys1527Asn)
c.4485G>C (p.Lys1495Asn)
c.4455G>C (p.Lys1485Asn)
c.4380G>C (p.Lys1460Asn)
c.4278G>C (p.Lys1426Asn)
c.3909G>C (p.Lys1303Asn)
 dbSNP
5g.112840352G=CA1573471317APCc.4812G= (p.Lys1604=)
c.*4764G= (n.*4764G=)
c.4704G= (p.Lys1568=)
c.4758G= (p.Lys1586=)
c.*4080G= (n.*4080G=)
c.230+11380G=
c.4788G= (p.Lys1596=)
c.4683G= (p.Lys1561=)
c.4674G= (p.Lys1558=)
c.4635G= (p.Lys1545=)
c.4581G= (p.Lys1527=)
c.4485G= (p.Lys1495=)
c.4455G= (p.Lys1485=)
c.4380G= (p.Lys1460=)
c.4278G= (p.Lys1426=)
c.3909G= (p.Lys1303=)
5g.112840352G>TCA16031765APCc.4812G>T (p.Lys1604Asn)
c.*4764G>T (n.*4764G>T)
c.4704G>T (p.Lys1568Asn)
c.4758G>T (p.Lys1586Asn)
c.*4080G>T (n.*4080G>T)
c.230+11380G>T
c.4788G>T (p.Lys1596Asn)
c.4683G>T (p.Lys1561Asn)
c.4674G>T (p.Lys1558Asn)
c.4635G>T (p.Lys1545Asn)
c.4581G>T (p.Lys1527Asn)
c.4485G>T (p.Lys1495Asn)
c.4455G>T (p.Lys1485Asn)
c.4380G>T (p.Lys1460Asn)
c.4278G>T (p.Lys1426Asn)
c.3909G>T (p.Lys1303Asn)
5g.112840354_112840361dupCA2580072562APCc.4814_4821dup (p.Lys1608HisfsTer?)
c.*4766_*4773dup (n.*4766_*4773dup)
c.4706_4713dup (p.Lys1572HisfsTer?)
c.4760_4767dup (p.Lys1590HisfsTer?)
c.*4082_*4089dup (n.*4082_*4089dup)
c.230+11382_230+11389dup
c.4790_4797dup (p.Lys1600HisfsTer?)
c.4685_4692dup (p.Lys1565HisfsTer?)
c.4676_4683dup (p.Lys1562HisfsTer?)
c.4637_4644dup (p.Lys1549HisfsTer?)
c.4583_4590dup (p.Lys1531HisfsTer?)
c.4487_4494dup (p.Lys1499HisfsTer?)
c.4457_4464dup (p.Lys1489HisfsTer?)
c.4382_4389dup (p.Lys1464HisfsTer?)
c.4280_4287dup (p.Lys1430HisfsTer?)
c.3911_3918dup (p.Lys1307HisfsTer?)
 ClinVar
5g.112840353delCA2580072563APCc.4813del (p.Ser1605HisfsTer?)
c.*4765del (n.*4765del)
c.4705del (p.Ser1569HisfsTer?)
c.4759del (p.Ser1587HisfsTer?)
c.*4081del (n.*4081del)
c.230+11381del
c.4789del (p.Ser1597HisfsTer?)
c.4684del (p.Ser1562HisfsTer?)
c.4675del (p.Ser1559HisfsTer?)
c.4636del (p.Ser1546HisfsTer?)
c.4582del (p.Ser1528HisfsTer?)
c.4486del (p.Ser1496HisfsTer?)
c.4456del (p.Ser1486HisfsTer?)
c.4381del (p.Ser1461HisfsTer?)
c.4279del (p.Ser1427HisfsTer?)
c.3910del (p.Ser1304HisfsTer?)
 ClinVar
5g.112840353T>ACA16031766APCc.4813T>A (p.Ser1605Thr)
c.*4765T>A (n.*4765T>A)
c.4705T>A (p.Ser1569Thr)
c.4759T>A (p.Ser1587Thr)
c.*4081T>A (n.*4081T>A)
c.230+11381T>A
c.4789T>A (p.Ser1597Thr)
c.4684T>A (p.Ser1562Thr)
c.4675T>A (p.Ser1559Thr)
c.4636T>A (p.Ser1546Thr)
c.4582T>A (p.Ser1528Thr)
c.4486T>A (p.Ser1496Thr)
c.4456T>A (p.Ser1486Thr)
c.4381T>A (p.Ser1461Thr)
c.4279T>A (p.Ser1427Thr)
c.3910T>A (p.Ser1304Thr)
5g.112840353T>CCA16031767APCc.4813T>C (p.Ser1605Pro)
c.*4765T>C (n.*4765T>C)
c.4705T>C (p.Ser1569Pro)
c.4759T>C (p.Ser1587Pro)
c.*4081T>C (n.*4081T>C)
c.230+11381T>C
c.4789T>C (p.Ser1597Pro)
c.4684T>C (p.Ser1562Pro)
c.4675T>C (p.Ser1559Pro)
c.4636T>C (p.Ser1546Pro)
c.4582T>C (p.Ser1528Pro)
c.4486T>C (p.Ser1496Pro)
c.4456T>C (p.Ser1486Pro)
c.4381T>C (p.Ser1461Pro)
c.4279T>C (p.Ser1427Pro)
c.3910T>C (p.Ser1304Pro)
5g.112840353T>GCA16031768APCc.4813T>G (p.Ser1605Ala)
c.*4765T>G (n.*4765T>G)
c.4705T>G (p.Ser1569Ala)
c.4759T>G (p.Ser1587Ala)
c.*4081T>G (n.*4081T>G)
c.230+11381T>G
c.4789T>G (p.Ser1597Ala)
c.4684T>G (p.Ser1562Ala)
c.4675T>G (p.Ser1559Ala)
c.4636T>G (p.Ser1546Ala)
c.4582T>G (p.Ser1528Ala)
c.4486T>G (p.Ser1496Ala)
c.4456T>G (p.Ser1486Ala)
c.4381T>G (p.Ser1461Ala)
c.4279T>G (p.Ser1427Ala)
c.3910T>G (p.Ser1304Ala)
5g.112840356_112840358delCA2739272570APCc.4816_4818del (p.Ser1606del)
c.*4768_*4770del (n.*4768_*4770del)
c.4708_4710del (p.Ser1570del)
c.4762_4764del (p.Ser1588del)
c.*4084_*4086del (n.*4084_*4086del)
c.230+11384_230+11386del
c.4792_4794del (p.Ser1598del)
c.4687_4689del (p.Ser1563del)
c.4678_4680del (p.Ser1560del)
c.4639_4641del (p.Ser1547del)
c.4585_4587del (p.Ser1529del)
c.4489_4491del (p.Ser1497del)
c.4459_4461del (p.Ser1487del)
c.4384_4386del (p.Ser1462del)
c.4282_4284del (p.Ser1428del)
c.3913_3915del (p.Ser1305del)
 ClinVar
5g.112840354C>ACA16031769APCc.4814C>A (p.Ser1605Ter)
c.*4766C>A (n.*4766C>A)
c.4706C>A (p.Ser1569Ter)
c.4760C>A (p.Ser1587Ter)
c.*4082C>A (n.*4082C>A)
c.230+11382C>A
c.4790C>A (p.Ser1597Ter)
c.4685C>A (p.Ser1562Ter)
c.4676C>A (p.Ser1559Ter)
c.4637C>A (p.Ser1546Ter)
c.4583C>A (p.Ser1528Ter)
c.4487C>A (p.Ser1496Ter)
c.4457C>A (p.Ser1486Ter)
c.4382C>A (p.Ser1461Ter)
c.4280C>A (p.Ser1427Ter)
c.3911C>A (p.Ser1304Ter)
 ClinVar dbSNP
5g.112840354C=CA1573471331APCc.4814C= (p.Ser1605=)
c.*4766C= (n.*4766C=)
c.4706C= (p.Ser1569=)
c.4760C= (p.Ser1587=)
c.*4082C= (n.*4082C=)
c.230+11382C=
c.4790C= (p.Ser1597=)
c.4685C= (p.Ser1562=)
c.4676C= (p.Ser1559=)
c.4637C= (p.Ser1546=)
c.4583C= (p.Ser1528=)
c.4487C= (p.Ser1496=)
c.4457C= (p.Ser1486=)
c.4382C= (p.Ser1461=)
c.4280C= (p.Ser1427=)
c.3911C= (p.Ser1304=)
5g.112840354C>GCA16031770APCc.4814C>G (p.Ser1605Ter)
c.*4766C>G (n.*4766C>G)
c.4706C>G (p.Ser1569Ter)
c.4760C>G (p.Ser1587Ter)
c.*4082C>G (n.*4082C>G)
c.230+11382C>G
c.4790C>G (p.Ser1597Ter)
c.4685C>G (p.Ser1562Ter)
c.4676C>G (p.Ser1559Ter)
c.4637C>G (p.Ser1546Ter)
c.4583C>G (p.Ser1528Ter)
c.4487C>G (p.Ser1496Ter)
c.4457C>G (p.Ser1486Ter)
c.4382C>G (p.Ser1461Ter)
c.4280C>G (p.Ser1427Ter)
c.3911C>G (p.Ser1304Ter)
 COSMIC
5g.112840354C>TCA16031771APCc.4814C>T (p.Ser1605Leu)
c.*4766C>T (n.*4766C>T)
c.4706C>T (p.Ser1569Leu)
c.4760C>T (p.Ser1587Leu)
c.*4082C>T (n.*4082C>T)
c.230+11382C>T
c.4790C>T (p.Ser1597Leu)
c.4685C>T (p.Ser1562Leu)
c.4676C>T (p.Ser1559Leu)
c.4637C>T (p.Ser1546Leu)
c.4583C>T (p.Ser1528Leu)
c.4487C>T (p.Ser1496Leu)
c.4457C>T (p.Ser1486Leu)
c.4382C>T (p.Ser1461Leu)
c.4280C>T (p.Ser1427Leu)
c.3911C>T (p.Ser1304Leu)
 dbSNP
5g.112840356_112840376dupCA2674855945APCc.4816_4836dup (p.Pro1612_Ala1613insSerArgLysAlaLysLysPro)
c.*4768_*4788dup (n.*4768_*4788dup)
c.4708_4728dup (p.Pro1576_Ala1577insSerArgLysAlaLysLysPro)
c.4762_4782dup (p.Pro1594_Ala1595insSerArgLysAlaLysLysPro)
c.*4084_*4104dup (n.*4084_*4104dup)
c.230+11384_230+11404dup
c.4792_4812dup (p.Pro1604_Ala1605insSerArgLysAlaLysLysPro)
c.4687_4707dup (p.Pro1569_Ala1570insSerArgLysAlaLysLysPro)
c.4678_4698dup (p.Pro1566_Ala1567insSerArgLysAlaLysLysPro)
c.4639_4659dup (p.Pro1553_Ala1554insSerArgLysAlaLysLysPro)
c.4585_4605dup (p.Pro1535_Ala1536insSerArgLysAlaLysLysPro)
c.4489_4509dup (p.Pro1503_Ala1504insSerArgLysAlaLysLysPro)
c.4459_4479dup (p.Pro1493_Ala1494insSerArgLysAlaLysLysPro)
c.4384_4404dup (p.Pro1468_Ala1469insSerArgLysAlaLysLysPro)
c.4282_4302dup (p.Pro1434_Ala1435insSerArgLysAlaLysLysPro)
c.3913_3933dup (p.Pro1311_Ala1312insSerArgLysAlaLysLysPro)
 gnomAD v4
5g.112840355A=CA1573471342APCc.4815A= (p.Ser1605=)
c.*4767A= (n.*4767A=)
c.4707A= (p.Ser1569=)
c.4761A= (p.Ser1587=)
c.*4083A= (n.*4083A=)
c.230+11383A=
c.4791A= (p.Ser1597=)
c.4686A= (p.Ser1562=)
c.4677A= (p.Ser1559=)
c.4638A= (p.Ser1546=)
c.4584A= (p.Ser1528=)
c.4488A= (p.Ser1496=)
c.4458A= (p.Ser1486=)
c.4383A= (p.Ser1461=)
c.4281A= (p.Ser1427=)
c.3912A= (p.Ser1304=)
5g.112840355A>CCA335974APCc.4815A>C (p.Ser1605=)
c.*4767A>C (n.*4767A>C)
c.4707A>C (p.Ser1569=)
c.4761A>C (p.Ser1587=)
c.*4083A>C (n.*4083A>C)
c.230+11383A>C
c.4791A>C (p.Ser1597=)
c.4686A>C (p.Ser1562=)
c.4677A>C (p.Ser1559=)
c.4638A>C (p.Ser1546=)
c.4584A>C (p.Ser1528=)
c.4488A>C (p.Ser1496=)
c.4458A>C (p.Ser1486=)
c.4383A>C (p.Ser1461=)
c.4281A>C (p.Ser1427=)
c.3912A>C (p.Ser1304=)
 ClinVar dbSNP
5g.112840355A>GCA446206718APCc.4815A>G (p.Ser1605=)
c.*4767A>G (n.*4767A>G)
c.4707A>G (p.Ser1569=)
c.4761A>G (p.Ser1587=)
c.*4083A>G (n.*4083A>G)
c.230+11383A>G
c.4791A>G (p.Ser1597=)
c.4686A>G (p.Ser1562=)
c.4677A>G (p.Ser1559=)
c.4638A>G (p.Ser1546=)
c.4584A>G (p.Ser1528=)
c.4488A>G (p.Ser1496=)
c.4458A>G (p.Ser1486=)
c.4383A>G (p.Ser1461=)
c.4281A>G (p.Ser1427=)
c.3912A>G (p.Ser1304=)
 ClinVar dbSNP gnomAD v4
5g.112840355A>TCA446206717APCc.4815A>T (p.Ser1605=)
c.*4767A>T (n.*4767A>T)
c.4707A>T (p.Ser1569=)
c.4761A>T (p.Ser1587=)
c.*4083A>T (n.*4083A>T)
c.230+11383A>T
c.4791A>T (p.Ser1597=)
c.4686A>T (p.Ser1562=)
c.4677A>T (p.Ser1559=)
c.4638A>T (p.Ser1546=)
c.4584A>T (p.Ser1528=)
c.4488A>T (p.Ser1496=)
c.4458A>T (p.Ser1486=)
c.4383A>T (p.Ser1461=)
c.4281A>T (p.Ser1427=)
c.3912A>T (p.Ser1304=)
 dbSNP
5g.112840355_112840356delCA2580072564APCc.4815_4816del (p.Ser1606ThrfsTer2)
c.*4767_*4768del (n.*4767_*4768del)
c.4707_4708del (p.Ser1570ThrfsTer2)
c.4761_4762del (p.Ser1588ThrfsTer2)
c.*4083_*4084del (n.*4083_*4084del)
c.230+11383_230+11384del
c.4791_4792del (p.Ser1598ThrfsTer2)
c.4686_4687del (p.Ser1563ThrfsTer2)
c.4677_4678del (p.Ser1560ThrfsTer2)
c.4638_4639del (p.Ser1547ThrfsTer2)
c.4584_4585del (p.Ser1529ThrfsTer2)
c.4488_4489del (p.Ser1497ThrfsTer2)
c.4458_4459del (p.Ser1487ThrfsTer2)
c.4383_4384del (p.Ser1462ThrfsTer2)
c.4281_4282del (p.Ser1428ThrfsTer2)
c.3912_3913del (p.Ser1305ThrfsTer2)
 ClinVar
5g.112840356T>ACA16031772APCc.4816T>A (p.Ser1606Thr)
c.*4768T>A (n.*4768T>A)
c.4708T>A (p.Ser1570Thr)
c.4762T>A (p.Ser1588Thr)
c.*4084T>A (n.*4084T>A)
c.230+11384T>A
c.4792T>A (p.Ser1598Thr)
c.4687T>A (p.Ser1563Thr)
c.4678T>A (p.Ser1560Thr)
c.4639T>A (p.Ser1547Thr)
c.4585T>A (p.Ser1529Thr)
c.4489T>A (p.Ser1497Thr)
c.4459T>A (p.Ser1487Thr)
c.4384T>A (p.Ser1462Thr)
c.4282T>A (p.Ser1428Thr)
c.3913T>A (p.Ser1305Thr)
 dbSNP
5g.112840356T>CCA16031773APCc.4816T>C (p.Ser1606Pro)
c.*4768T>C (n.*4768T>C)
c.4708T>C (p.Ser1570Pro)
c.4762T>C (p.Ser1588Pro)
c.*4084T>C (n.*4084T>C)
c.230+11384T>C
c.4792T>C (p.Ser1598Pro)
c.4687T>C (p.Ser1563Pro)
c.4678T>C (p.Ser1560Pro)
c.4639T>C (p.Ser1547Pro)
c.4585T>C (p.Ser1529Pro)
c.4489T>C (p.Ser1497Pro)
c.4459T>C (p.Ser1487Pro)
c.4384T>C (p.Ser1462Pro)
c.4282T>C (p.Ser1428Pro)
c.3913T>C (p.Ser1305Pro)
 dbSNP gnomAD v4
5g.112840356T>GCA16031774APCc.4816T>G (p.Ser1606Ala)
c.*4768T>G (n.*4768T>G)
c.4708T>G (p.Ser1570Ala)
c.4762T>G (p.Ser1588Ala)
c.*4084T>G (n.*4084T>G)
c.230+11384T>G
c.4792T>G (p.Ser1598Ala)
c.4687T>G (p.Ser1563Ala)
c.4678T>G (p.Ser1560Ala)
c.4639T>G (p.Ser1547Ala)
c.4585T>G (p.Ser1529Ala)
c.4489T>G (p.Ser1497Ala)
c.4459T>G (p.Ser1487Ala)
c.4384T>G (p.Ser1462Ala)
c.4282T>G (p.Ser1428Ala)
c.3913T>G (p.Ser1305Ala)
5g.112840356T=CA1573471355APCc.4816T= (p.Ser1606=)
c.*4768T= (n.*4768T=)
c.4708T= (p.Ser1570=)
c.4762T= (p.Ser1588=)
c.*4084T= (n.*4084T=)
c.230+11384T=
c.4792T= (p.Ser1598=)
c.4687T= (p.Ser1563=)
c.4678T= (p.Ser1560=)
c.4639T= (p.Ser1547=)
c.4585T= (p.Ser1529=)
c.4489T= (p.Ser1497=)
c.4459T= (p.Ser1487=)
c.4384T= (p.Ser1462=)
c.4282T= (p.Ser1428=)
c.3913T= (p.Ser1305=)
5g.112840357C>ACA16031775APCc.4817C>A (p.Ser1606Ter)
c.*4769C>A (n.*4769C>A)
c.4709C>A (p.Ser1570Ter)
c.4763C>A (p.Ser1588Ter)
c.*4085C>A (n.*4085C>A)
c.230+11385C>A
c.4793C>A (p.Ser1598Ter)
c.4688C>A (p.Ser1563Ter)
c.4679C>A (p.Ser1560Ter)
c.4640C>A (p.Ser1547Ter)
c.4586C>A (p.Ser1529Ter)
c.4490C>A (p.Ser1497Ter)
c.4460C>A (p.Ser1487Ter)
c.4385C>A (p.Ser1462Ter)
c.4283C>A (p.Ser1428Ter)
c.3914C>A (p.Ser1305Ter)
 dbSNP
5g.112840357C>GCA16031776APCc.4817C>G (p.Ser1606Ter)
c.*4769C>G (n.*4769C>G)
c.4709C>G (p.Ser1570Ter)
c.4763C>G (p.Ser1588Ter)
c.*4085C>G (n.*4085C>G)
c.230+11385C>G
c.4793C>G (p.Ser1598Ter)
c.4688C>G (p.Ser1563Ter)
c.4679C>G (p.Ser1560Ter)
c.4640C>G (p.Ser1547Ter)
c.4586C>G (p.Ser1529Ter)
c.4490C>G (p.Ser1497Ter)
c.4460C>G (p.Ser1487Ter)
c.4385C>G (p.Ser1462Ter)
c.4283C>G (p.Ser1428Ter)
c.3914C>G (p.Ser1305Ter)
 dbSNP
5g.112840357C>TCA16031777APCc.4817C>T (p.Ser1606Leu)
c.*4769C>T (n.*4769C>T)
c.4709C>T (p.Ser1570Leu)
c.4763C>T (p.Ser1588Leu)
c.*4085C>T (n.*4085C>T)
c.230+11385C>T
c.4793C>T (p.Ser1598Leu)
c.4688C>T (p.Ser1563Leu)
c.4679C>T (p.Ser1560Leu)
c.4640C>T (p.Ser1547Leu)
c.4586C>T (p.Ser1529Leu)
c.4490C>T (p.Ser1497Leu)
c.4460C>T (p.Ser1487Leu)
c.4385C>T (p.Ser1462Leu)
c.4283C>T (p.Ser1428Leu)
c.3914C>T (p.Ser1305Leu)
 dbSNP
5g.112840358A=CA1573471370APCc.4818A= (p.Ser1606=)
c.*4770A= (n.*4770A=)
c.4710A= (p.Ser1570=)
c.4764A= (p.Ser1588=)
c.*4086A= (n.*4086A=)
c.230+11386A=
c.4794A= (p.Ser1598=)
c.4689A= (p.Ser1563=)
c.4680A= (p.Ser1560=)
c.4641A= (p.Ser1547=)
c.4587A= (p.Ser1529=)
c.4491A= (p.Ser1497=)
c.4461A= (p.Ser1487=)
c.4386A= (p.Ser1462=)
c.4284A= (p.Ser1428=)
c.3915A= (p.Ser1305=)
5g.112840358A>CCA446206719APCc.4818A>C (p.Ser1606=)
c.*4770A>C (n.*4770A>C)
c.4710A>C (p.Ser1570=)
c.4764A>C (p.Ser1588=)
c.*4086A>C (n.*4086A>C)
c.230+11386A>C
c.4794A>C (p.Ser1598=)
c.4689A>C (p.Ser1563=)
c.4680A>C (p.Ser1560=)
c.4641A>C (p.Ser1547=)
c.4587A>C (p.Ser1529=)
c.4491A>C (p.Ser1497=)
c.4461A>C (p.Ser1487=)
c.4386A>C (p.Ser1462=)
c.4284A>C (p.Ser1428=)
c.3915A>C (p.Ser1305=)
 dbSNP
5g.112840358A>GCA446206720APCc.4818A>G (p.Ser1606=)
c.*4770A>G (n.*4770A>G)
c.4710A>G (p.Ser1570=)
c.4764A>G (p.Ser1588=)
c.*4086A>G (n.*4086A>G)
c.230+11386A>G
c.4794A>G (p.Ser1598=)
c.4689A>G (p.Ser1563=)
c.4680A>G (p.Ser1560=)
c.4641A>G (p.Ser1547=)
c.4587A>G (p.Ser1529=)
c.4491A>G (p.Ser1497=)
c.4461A>G (p.Ser1487=)
c.4386A>G (p.Ser1462=)
c.4284A>G (p.Ser1428=)
c.3915A>G (p.Ser1305=)
5g.112840358A>TCA446206721APCc.4818A>T (p.Ser1606=)
c.*4770A>T (n.*4770A>T)
c.4710A>T (p.Ser1570=)
c.4764A>T (p.Ser1588=)
c.*4086A>T (n.*4086A>T)
c.230+11386A>T
c.4794A>T (p.Ser1598=)
c.4689A>T (p.Ser1563=)
c.4680A>T (p.Ser1560=)
c.4641A>T (p.Ser1547=)
c.4587A>T (p.Ser1529=)
c.4491A>T (p.Ser1497=)
c.4461A>T (p.Ser1487=)
c.4386A>T (p.Ser1462=)
c.4284A>T (p.Ser1428=)
c.3915A>T (p.Ser1305=)
 ClinVar dbSNP gnomAD v4
5g.112840359C>ACA16031778APCc.4819C>A (p.Arg1607Ser)
c.*4771C>A (n.*4771C>A)
c.4711C>A (p.Arg1571Ser)
c.4765C>A (p.Arg1589Ser)
c.*4087C>A (n.*4087C>A)
c.230+11387C>A
c.4795C>A (p.Arg1599Ser)
c.4690C>A (p.Arg1564Ser)
c.4681C>A (p.Arg1561Ser)
c.4642C>A (p.Arg1548Ser)
c.4588C>A (p.Arg1530Ser)
c.4492C>A (p.Arg1498Ser)
c.4462C>A (p.Arg1488Ser)
c.4387C>A (p.Arg1463Ser)
c.4285C>A (p.Arg1429Ser)
c.3916C>A (p.Arg1306Ser)
 ClinVar dbSNP gnomAD v4
5g.112840359C=CA1573471378APCc.4819C= (p.Arg1607=)
c.*4771C= (n.*4771C=)
c.4711C= (p.Arg1571=)
c.4765C= (p.Arg1589=)
c.*4087C= (n.*4087C=)
c.230+11387C=
c.4795C= (p.Arg1599=)
c.4690C= (p.Arg1564=)
c.4681C= (p.Arg1561=)
c.4642C= (p.Arg1548=)
c.4588C= (p.Arg1530=)
c.4492C= (p.Arg1498=)
c.4462C= (p.Arg1488=)
c.4387C= (p.Arg1463=)
c.4285C= (p.Arg1429=)
c.3916C= (p.Arg1306=)
5g.112840359C>GCA009730APCc.4819C>G (p.Arg1607Gly)
c.*4771C>G (n.*4771C>G)
c.4711C>G (p.Arg1571Gly)
c.4765C>G (p.Arg1589Gly)
c.*4087C>G (n.*4087C>G)
c.230+11387C>G
c.4795C>G (p.Arg1599Gly)
c.4690C>G (p.Arg1564Gly)
c.4681C>G (p.Arg1561Gly)
c.4642C>G (p.Arg1548Gly)
c.4588C>G (p.Arg1530Gly)
c.4492C>G (p.Arg1498Gly)
c.4462C>G (p.Arg1488Gly)
c.4387C>G (p.Arg1463Gly)
c.4285C>G (p.Arg1429Gly)
c.3916C>G (p.Arg1306Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840359C>TCA009735APCc.4819C>T (p.Arg1607Cys)
c.*4771C>T (n.*4771C>T)
c.4711C>T (p.Arg1571Cys)
c.4765C>T (p.Arg1589Cys)
c.*4087C>T (n.*4087C>T)
c.230+11387C>T
c.4795C>T (p.Arg1599Cys)
c.4690C>T (p.Arg1564Cys)
c.4681C>T (p.Arg1561Cys)
c.4642C>T (p.Arg1548Cys)
c.4588C>T (p.Arg1530Cys)
c.4492C>T (p.Arg1498Cys)
c.4462C>T (p.Arg1488Cys)
c.4387C>T (p.Arg1463Cys)
c.4285C>T (p.Arg1429Cys)
c.3916C>T (p.Arg1306Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840360delCA2573138709APCc.4820del (p.Arg1607LeufsTer?)
c.*4772del (n.*4772del)
c.4712del (p.Arg1571LeufsTer?)
c.4766del (p.Arg1589LeufsTer?)
c.*4088del (n.*4088del)
c.230+11388del
c.4796del (p.Arg1599LeufsTer?)
c.4691del (p.Arg1564LeufsTer?)
c.4682del (p.Arg1561LeufsTer?)
c.4643del (p.Arg1548LeufsTer?)
c.4589del (p.Arg1530LeufsTer?)
c.4493del (p.Arg1498LeufsTer?)
c.4463del (p.Arg1488LeufsTer?)
c.4388del (p.Arg1463LeufsTer?)
c.4286del (p.Arg1429LeufsTer?)
c.3917del (p.Arg1306LeufsTer?)
 ClinVar dbSNP
5g.112840360G>ACA009743APCc.4820G>A (p.Arg1607His)
c.*4772G>A (n.*4772G>A)
c.4712G>A (p.Arg1571His)
c.4766G>A (p.Arg1589His)
c.*4088G>A (n.*4088G>A)
c.230+11388G>A
c.4796G>A (p.Arg1599His)
c.4691G>A (p.Arg1564His)
c.4682G>A (p.Arg1561His)
c.4643G>A (p.Arg1548His)
c.4589G>A (p.Arg1530His)
c.4493G>A (p.Arg1498His)
c.4463G>A (p.Arg1488His)
c.4388G>A (p.Arg1463His)
c.4286G>A (p.Arg1429His)
c.3917G>A (p.Arg1306His)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
5g.112840360G>CCA16031779APCc.4820G>C (p.Arg1607Pro)
c.*4772G>C (n.*4772G>C)
c.4712G>C (p.Arg1571Pro)
c.4766G>C (p.Arg1589Pro)
c.*4088G>C (n.*4088G>C)
c.230+11388G>C
c.4796G>C (p.Arg1599Pro)
c.4691G>C (p.Arg1564Pro)
c.4682G>C (p.Arg1561Pro)
c.4643G>C (p.Arg1548Pro)
c.4589G>C (p.Arg1530Pro)
c.4493G>C (p.Arg1498Pro)
c.4463G>C (p.Arg1488Pro)
c.4388G>C (p.Arg1463Pro)
c.4286G>C (p.Arg1429Pro)
c.3917G>C (p.Arg1306Pro)
 dbSNP
5g.112840360G=CA1573471388APCc.4820G= (p.Arg1607=)
c.*4772G= (n.*4772G=)
c.4712G= (p.Arg1571=)
c.4766G= (p.Arg1589=)
c.*4088G= (n.*4088G=)
c.230+11388G=
c.4796G= (p.Arg1599=)
c.4691G= (p.Arg1564=)
c.4682G= (p.Arg1561=)
c.4643G= (p.Arg1548=)
c.4589G= (p.Arg1530=)
c.4493G= (p.Arg1498=)
c.4463G= (p.Arg1488=)
c.4388G= (p.Arg1463=)
c.4286G= (p.Arg1429=)
c.3917G= (p.Arg1306=)
5g.112840360G>TCA16031780APCc.4820G>T (p.Arg1607Leu)
c.*4772G>T (n.*4772G>T)
c.4712G>T (p.Arg1571Leu)
c.4766G>T (p.Arg1589Leu)
c.*4088G>T (n.*4088G>T)
c.230+11388G>T
c.4796G>T (p.Arg1599Leu)
c.4691G>T (p.Arg1564Leu)
c.4682G>T (p.Arg1561Leu)
c.4643G>T (p.Arg1548Leu)
c.4589G>T (p.Arg1530Leu)
c.4493G>T (p.Arg1498Leu)
c.4463G>T (p.Arg1488Leu)
c.4388G>T (p.Arg1463Leu)
c.4286G>T (p.Arg1429Leu)
c.3917G>T (p.Arg1306Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840361T>ACA446206722APCc.4821T>A (p.Arg1607=)
c.*4773T>A (n.*4773T>A)
c.4713T>A (p.Arg1571=)
c.4767T>A (p.Arg1589=)
c.*4089T>A (n.*4089T>A)
c.230+11389T>A
c.4797T>A (p.Arg1599=)
c.4692T>A (p.Arg1564=)
c.4683T>A (p.Arg1561=)
c.4644T>A (p.Arg1548=)
c.4590T>A (p.Arg1530=)
c.4494T>A (p.Arg1498=)
c.4464T>A (p.Arg1488=)
c.4389T>A (p.Arg1463=)
c.4287T>A (p.Arg1429=)
c.3918T>A (p.Arg1306=)
5g.112840361T>CCA039808APCc.4821T>C (p.Arg1607=)
c.*4773T>C (n.*4773T>C)
c.4713T>C (p.Arg1571=)
c.4767T>C (p.Arg1589=)
c.*4089T>C (n.*4089T>C)
c.230+11389T>C
c.4797T>C (p.Arg1599=)
c.4692T>C (p.Arg1564=)
c.4683T>C (p.Arg1561=)
c.4644T>C (p.Arg1548=)
c.4590T>C (p.Arg1530=)
c.4494T>C (p.Arg1498=)
c.4464T>C (p.Arg1488=)
c.4389T>C (p.Arg1463=)
c.4287T>C (p.Arg1429=)
c.3918T>C (p.Arg1306=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840361T>GCA446206723APCc.4821T>G (p.Arg1607=)
c.*4773T>G (n.*4773T>G)
c.4713T>G (p.Arg1571=)
c.4767T>G (p.Arg1589=)
c.*4089T>G (n.*4089T>G)
c.230+11389T>G
c.4797T>G (p.Arg1599=)
c.4692T>G (p.Arg1564=)
c.4683T>G (p.Arg1561=)
c.4644T>G (p.Arg1548=)
c.4590T>G (p.Arg1530=)
c.4494T>G (p.Arg1498=)
c.4464T>G (p.Arg1488=)
c.4389T>G (p.Arg1463=)
c.4287T>G (p.Arg1429=)
c.3918T>G (p.Arg1306=)
 ClinVar dbSNP
5g.112840361T=CA1573471416APCc.4821T= (p.Arg1607=)
c.*4773T= (n.*4773T=)
c.4713T= (p.Arg1571=)
c.4767T= (p.Arg1589=)
c.*4089T= (n.*4089T=)
c.230+11389T=
c.4797T= (p.Arg1599=)
c.4692T= (p.Arg1564=)
c.4683T= (p.Arg1561=)
c.4644T= (p.Arg1548=)
c.4590T= (p.Arg1530=)
c.4494T= (p.Arg1498=)
c.4464T= (p.Arg1488=)
c.4389T= (p.Arg1463=)
c.4287T= (p.Arg1429=)
c.3918T= (p.Arg1306=)
5g.112840361_112840362delinsTACA1573471407APCc.4821_4822delinsTA (p.Arg1607=)
c.*4773_*4774delinsTA (n.*4773_*4774delinsTA)
c.4713_4714delinsTA (p.Arg1571=)
c.4767_4768delinsTA (p.Arg1589=)
c.*4089_*4090delinsTA (n.*4089_*4090delinsTA)
c.230+11389_230+11390delinsTA
c.4797_4798delinsTA (p.Arg1599=)
c.4692_4693delinsTA (p.Arg1564=)
c.4683_4684delinsTA (p.Arg1561=)
c.4644_4645delinsTA (p.Arg1548=)
c.4590_4591delinsTA (p.Arg1530=)
c.4494_4495delinsTA (p.Arg1498=)
c.4464_4465delinsTA (p.Arg1488=)
c.4389_4390delinsTA (p.Arg1463=)
c.4287_4288delinsTA (p.Arg1429=)
c.3918_3919delinsTA (p.Arg1306=)
5g.112840362A=CA1573471431APCc.4822A= (p.Lys1608=)
c.*4774A= (n.*4774A=)
c.4714A= (p.Lys1572=)
c.4768A= (p.Lys1590=)
c.*4090A= (n.*4090A=)
c.230+11390A=
c.4798A= (p.Lys1600=)
c.4693A= (p.Lys1565=)
c.4684A= (p.Lys1562=)
c.4645A= (p.Lys1549=)
c.4591A= (p.Lys1531=)
c.4495A= (p.Lys1499=)
c.4465A= (p.Lys1489=)
c.4390A= (p.Lys1464=)
c.4288A= (p.Lys1430=)
c.3919A= (p.Lys1307=)
5g.112840362A>CCA16031781APCc.4822A>C (p.Lys1608Gln)
c.*4774A>C (n.*4774A>C)
c.4714A>C (p.Lys1572Gln)
c.4768A>C (p.Lys1590Gln)
c.*4090A>C (n.*4090A>C)
c.230+11390A>C
c.4798A>C (p.Lys1600Gln)
c.4693A>C (p.Lys1565Gln)
c.4684A>C (p.Lys1562Gln)
c.4645A>C (p.Lys1549Gln)
c.4591A>C (p.Lys1531Gln)
c.4495A>C (p.Lys1499Gln)
c.4465A>C (p.Lys1489Gln)
c.4390A>C (p.Lys1464Gln)
c.4288A>C (p.Lys1430Gln)
c.3919A>C (p.Lys1307Gln)
5g.112840362A>GCA10582318APCc.4822A>G (p.Lys1608Glu)
c.*4774A>G (n.*4774A>G)
c.4714A>G (p.Lys1572Glu)
c.4768A>G (p.Lys1590Glu)
c.*4090A>G (n.*4090A>G)
c.230+11390A>G
c.4798A>G (p.Lys1600Glu)
c.4693A>G (p.Lys1565Glu)
c.4684A>G (p.Lys1562Glu)
c.4645A>G (p.Lys1549Glu)
c.4591A>G (p.Lys1531Glu)
c.4495A>G (p.Lys1499Glu)
c.4465A>G (p.Lys1489Glu)
c.4390A>G (p.Lys1464Glu)
c.4288A>G (p.Lys1430Glu)
c.3919A>G (p.Lys1307Glu)
 ClinVar dbSNP
5g.112840362A>TCA16031782APCc.4822A>T (p.Lys1608Ter)
c.*4774A>T (n.*4774A>T)
c.4714A>T (p.Lys1572Ter)
c.4768A>T (p.Lys1590Ter)
c.*4090A>T (n.*4090A>T)
c.230+11390A>T
c.4798A>T (p.Lys1600Ter)
c.4693A>T (p.Lys1565Ter)
c.4684A>T (p.Lys1562Ter)
c.4645A>T (p.Lys1549Ter)
c.4591A>T (p.Lys1531Ter)
c.4495A>T (p.Lys1499Ter)
c.4465A>T (p.Lys1489Ter)
c.4390A>T (p.Lys1464Ter)
c.4288A>T (p.Lys1430Ter)
c.3919A>T (p.Lys1307Ter)
 dbSNP
5g.112840364delCA658655952APCc.4824del (p.Ala1609GlnfsTer?)
c.*4776del (n.*4776del)
c.4716del (p.Ala1573GlnfsTer?)
c.4770del (p.Ala1591GlnfsTer?)
c.*4092del (n.*4092del)
c.230+11392del
c.4800del (p.Ala1601GlnfsTer?)
c.4695del (p.Ala1566GlnfsTer?)
c.4686del (p.Ala1563GlnfsTer?)
c.4647del (p.Ala1550GlnfsTer?)
c.4593del (p.Ala1532GlnfsTer?)
c.4497del (p.Ala1500GlnfsTer?)
c.4467del (p.Ala1490GlnfsTer?)
c.4392del (p.Ala1465GlnfsTer?)
c.4290del (p.Ala1431GlnfsTer?)
c.3921del (p.Ala1308GlnfsTer?)
 ClinVar dbSNP
5g.112840363A>CCA16031783APCc.4823A>C (p.Lys1608Thr)
c.*4775A>C (n.*4775A>C)
c.4715A>C (p.Lys1572Thr)
c.4769A>C (p.Lys1590Thr)
c.*4091A>C (n.*4091A>C)
c.230+11391A>C
c.4799A>C (p.Lys1600Thr)
c.4694A>C (p.Lys1565Thr)
c.4685A>C (p.Lys1562Thr)
c.4646A>C (p.Lys1549Thr)
c.4592A>C (p.Lys1531Thr)
c.4496A>C (p.Lys1499Thr)
c.4466A>C (p.Lys1489Thr)
c.4391A>C (p.Lys1464Thr)
c.4289A>C (p.Lys1430Thr)
c.3920A>C (p.Lys1307Thr)
5g.112840363A>GCA16031784APCc.4823A>G (p.Lys1608Arg)
c.*4775A>G (n.*4775A>G)
c.4715A>G (p.Lys1572Arg)
c.4769A>G (p.Lys1590Arg)
c.*4091A>G (n.*4091A>G)
c.230+11391A>G
c.4799A>G (p.Lys1600Arg)
c.4694A>G (p.Lys1565Arg)
c.4685A>G (p.Lys1562Arg)
c.4646A>G (p.Lys1549Arg)
c.4592A>G (p.Lys1531Arg)
c.4496A>G (p.Lys1499Arg)
c.4466A>G (p.Lys1489Arg)
c.4391A>G (p.Lys1464Arg)
c.4289A>G (p.Lys1430Arg)
c.3920A>G (p.Lys1307Arg)
 ClinVar dbSNP
5g.112840363A>TCA16031785APCc.4823A>T (p.Lys1608Ile)
c.*4775A>T (n.*4775A>T)
c.4715A>T (p.Lys1572Ile)
c.4769A>T (p.Lys1590Ile)
c.*4091A>T (n.*4091A>T)
c.230+11391A>T
c.4799A>T (p.Lys1600Ile)
c.4694A>T (p.Lys1565Ile)
c.4685A>T (p.Lys1562Ile)
c.4646A>T (p.Lys1549Ile)
c.4592A>T (p.Lys1531Ile)
c.4496A>T (p.Lys1499Ile)
c.4466A>T (p.Lys1489Ile)
c.4391A>T (p.Lys1464Ile)
c.4289A>T (p.Lys1430Ile)
c.3920A>T (p.Lys1307Ile)
 dbSNP

Number of alleles fetched