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.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.112840436_112842548dupCA2832533717APCc.4896_7008dup (p.Arg2337ValfsTer17)
c.*4848_*6960dup (n.*4848_*6960dup)
c.4788_6900dup (p.Arg2301ValfsTer17)
c.4842_6954dup (p.Arg2319ValfsTer17)
c.*4164_*6276dup (n.*4164_*6276dup)
c.230+11464_230+13576dup
c.4872_6984dup (p.Arg2329ValfsTer17)
c.4767_6879dup (p.Arg2294ValfsTer17)
c.4758_6870dup (p.Arg2291ValfsTer17)
c.4719_6831dup (p.Arg2278ValfsTer17)
c.4665_6777dup (p.Arg2260ValfsTer17)
c.4569_6681dup (p.Arg2228ValfsTer17)
c.4539_6651dup (p.Arg2218ValfsTer17)
c.4464_6576dup (p.Arg2193ValfsTer17)
c.4362_6474dup (p.Arg2159ValfsTer17)
c.3993_6105dup (p.Arg2036ValfsTer17)
5g.112840436_112842548delCA2832533712APCc.4896_7008del (p.Tyr1633AspfsTer18)
c.*4848_*6960del (n.*4848_*6960del)
c.4788_6900del (p.Tyr1597AspfsTer18)
c.4842_6954del (p.Tyr1615AspfsTer18)
c.*4164_*6276del (n.*4164_*6276del)
c.230+11464_230+13576del
c.4872_6984del (p.Tyr1625AspfsTer18)
c.4767_6879del (p.Tyr1590AspfsTer18)
c.4758_6870del (p.Tyr1587AspfsTer18)
c.4719_6831del (p.Tyr1574AspfsTer18)
c.4665_6777del (p.Tyr1556AspfsTer18)
c.4569_6681del (p.Tyr1524AspfsTer18)
c.4539_6651del (p.Tyr1514AspfsTer18)
c.4464_6576del (p.Tyr1489AspfsTer18)
c.4362_6474del (p.Tyr1455AspfsTer18)
c.3993_6105del (p.Tyr1332AspfsTer18)
5g.112840437_112842550delCA2832533715APCc.4897_7010del (p.Tyr1633ThrfsTer14)
c.*4849_*6962del (n.*4849_*6962del)
c.4789_6902del (p.Tyr1597ThrfsTer14)
c.4843_6956del (p.Tyr1615ThrfsTer14)
c.*4165_*6278del (n.*4165_*6278del)
c.230+11465_230+13578del
c.4873_6986del (p.Tyr1625ThrfsTer14)
c.4768_6881del (p.Tyr1590ThrfsTer14)
c.4759_6872del (p.Tyr1587ThrfsTer14)
c.4720_6833del (p.Tyr1574ThrfsTer14)
c.4666_6779del (p.Tyr1556ThrfsTer14)
c.4570_6683del (p.Tyr1524ThrfsTer14)
c.4540_6653del (p.Tyr1514ThrfsTer14)
c.4465_6578del (p.Tyr1489ThrfsTer14)
c.4363_6476del (p.Tyr1455ThrfsTer14)
c.3994_6107del (p.Tyr1332ThrfsTer14)
5g.112840437_112840549delCA2832533710APCc.4897_5009del (p.Tyr1633HisfsTer7)
c.*4849_*4961del (n.*4849_*4961del)
c.4789_4901del (p.Tyr1597HisfsTer7)
c.4843_4955del (p.Tyr1615HisfsTer7)
c.*4165_*4277del (n.*4165_*4277del)
c.230+11465_230+11577del
c.4873_4985del (p.Tyr1625HisfsTer7)
c.4768_4880del (p.Tyr1590HisfsTer7)
c.4759_4871del (p.Tyr1587HisfsTer7)
c.4720_4832del (p.Tyr1574HisfsTer7)
c.4666_4778del (p.Tyr1556HisfsTer7)
c.4570_4682del (p.Tyr1524HisfsTer7)
c.4540_4652del (p.Tyr1514HisfsTer7)
c.4465_4577del (p.Tyr1489HisfsTer7)
c.4363_4475del (p.Tyr1455HisfsTer7)
c.3994_4106del (p.Tyr1332HisfsTer7)
5g.112840437_112841549delCA2832533711APCc.4897_6009del (p.Tyr1633_Glu2003del)
c.*4849_*5961del (n.*4849_*5961del)
c.4789_5901del (p.Tyr1597_Glu1967del)
c.4843_5955del (p.Tyr1615_Glu1985del)
c.*4165_*5277del (n.*4165_*5277del)
c.230+11465_230+12577del
c.4873_5985del (p.Tyr1625_Glu1995del)
c.4768_5880del (p.Tyr1590_Glu1960del)
c.4759_5871del (p.Tyr1587_Glu1957del)
c.4720_5832del (p.Tyr1574_Glu1944del)
c.4666_5778del (p.Tyr1556_Glu1926del)
c.4570_5682del (p.Tyr1524_Glu1894del)
c.4540_5652del (p.Tyr1514_Glu1884del)
c.4465_5577del (p.Tyr1489_Glu1859del)
c.4363_5475del (p.Tyr1455_Glu1825del)
c.3994_5106del (p.Tyr1332_Glu1702del)
5g.112840437_112842549delCA2837995522APCc.4897_7009del (p.Tyr1633AspfsTer18)
c.*4849_*6961del (n.*4849_*6961del)
c.4789_6901del (p.Tyr1597AspfsTer18)
c.4843_6955del (p.Tyr1615AspfsTer18)
c.*4165_*6277del (n.*4165_*6277del)
c.230+11465_230+13577del
c.4873_6985del (p.Tyr1625AspfsTer18)
c.4768_6880del (p.Tyr1590AspfsTer18)
c.4759_6871del (p.Tyr1587AspfsTer18)
c.4720_6832del (p.Tyr1574AspfsTer18)
c.4666_6778del (p.Tyr1556AspfsTer18)
c.4570_6682del (p.Tyr1524AspfsTer18)
c.4540_6652del (p.Tyr1514AspfsTer18)
c.4465_6577del (p.Tyr1489AspfsTer18)
c.4363_6475del (p.Tyr1455AspfsTer18)
c.3994_6106del (p.Tyr1332AspfsTer18)
5g.112840437_112842549dupCA2832533716APCc.4897_7009dup (p.Arg2337IlefsTer17)
c.*4849_*6961dup (n.*4849_*6961dup)
c.4789_6901dup (p.Arg2301IlefsTer17)
c.4843_6955dup (p.Arg2319IlefsTer17)
c.*4165_*6277dup (n.*4165_*6277dup)
c.230+11465_230+13577dup
c.4873_6985dup (p.Arg2329IlefsTer17)
c.4768_6880dup (p.Arg2294IlefsTer17)
c.4759_6871dup (p.Arg2291IlefsTer17)
c.4720_6832dup (p.Arg2278IlefsTer17)
c.4666_6778dup (p.Arg2260IlefsTer17)
c.4570_6682dup (p.Arg2228IlefsTer17)
c.4540_6652dup (p.Arg2218IlefsTer17)
c.4465_6577dup (p.Arg2193IlefsTer17)
c.4363_6475dup (p.Arg2159IlefsTer17)
c.3994_6106dup (p.Arg2036IlefsTer17)
5g.112840437_112842594delCA2832533714APCc.4897_7054del (p.Tyr1633MetfsTer3)
c.*4849_*7006del (n.*4849_*7006del)
c.4789_6946del (p.Tyr1597MetfsTer3)
c.4843_7000del (p.Tyr1615MetfsTer3)
c.*4165_*6322del (n.*4165_*6322del)
c.230+11465_230+13622del
c.4873_7030del (p.Tyr1625MetfsTer3)
c.4768_6925del (p.Tyr1590MetfsTer3)
c.4759_6916del (p.Tyr1587MetfsTer3)
c.4720_6877del (p.Tyr1574MetfsTer3)
c.4666_6823del (p.Tyr1556MetfsTer3)
c.4570_6727del (p.Tyr1524MetfsTer3)
c.4540_6697del (p.Tyr1514MetfsTer3)
c.4465_6622del (p.Tyr1489MetfsTer3)
c.4363_6520del (p.Tyr1455MetfsTer3)
c.3994_6151del (p.Tyr1332MetfsTer3)
5g.112840437_112842594dupCA2832533780APCc.4897_7054dup (p.Asn2352IlefsTer17)
c.*4849_*7006dup (n.*4849_*7006dup)
c.4789_6946dup (p.Asn2316IlefsTer17)
c.4843_7000dup (p.Asn2334IlefsTer17)
c.*4165_*6322dup (n.*4165_*6322dup)
c.230+11465_230+13622dup
c.4873_7030dup (p.Asn2344IlefsTer17)
c.4768_6925dup (p.Asn2309IlefsTer17)
c.4759_6916dup (p.Asn2306IlefsTer17)
c.4720_6877dup (p.Asn2293IlefsTer17)
c.4666_6823dup (p.Asn2275IlefsTer17)
c.4570_6727dup (p.Asn2243IlefsTer17)
c.4540_6697dup (p.Asn2233IlefsTer17)
c.4465_6622dup (p.Asn2208IlefsTer17)
c.4363_6520dup (p.Asn2174IlefsTer17)
c.3994_6151dup (p.Asn2051IlefsTer17)
5g.112840479_112840489dupCA2580072583APCc.4939_4949dup (p.Thr1651MetfsTer21)
c.*4891_*4901dup (n.*4891_*4901dup)
c.4831_4841dup (p.Thr1615MetfsTer21)
c.4885_4895dup (p.Thr1633MetfsTer21)
c.*4207_*4217dup (n.*4207_*4217dup)
c.230+11507_230+11517dup
c.4915_4925dup (p.Thr1643MetfsTer21)
c.4810_4820dup (p.Thr1608MetfsTer21)
c.4801_4811dup (p.Thr1605MetfsTer21)
c.4762_4772dup (p.Thr1592MetfsTer21)
c.4708_4718dup (p.Thr1574MetfsTer21)
c.4612_4622dup (p.Thr1542MetfsTer21)
c.4582_4592dup (p.Thr1532MetfsTer21)
c.4507_4517dup (p.Thr1507MetfsTer21)
c.4405_4415dup (p.Thr1473MetfsTer21)
c.4036_4046dup (p.Thr1350MetfsTer21)
 ClinVar
5g.112840481T>ACA16032041APCc.4941T>A (p.His1647Gln)
c.*4893T>A (n.*4893T>A)
c.4833T>A (p.His1611Gln)
c.4887T>A (p.His1629Gln)
c.*4209T>A (n.*4209T>A)
c.230+11509T>A
c.4917T>A (p.His1639Gln)
c.4812T>A (p.His1604Gln)
c.4803T>A (p.His1601Gln)
c.4764T>A (p.His1588Gln)
c.4710T>A (p.His1570Gln)
c.4614T>A (p.His1538Gln)
c.4584T>A (p.His1528Gln)
c.4509T>A (p.His1503Gln)
c.4407T>A (p.His1469Gln)
c.4038T>A (p.His1346Gln)
 ClinVar dbSNP
5g.112840481T>CCA446208106APCc.4941T>C (p.His1647=)
c.*4893T>C (n.*4893T>C)
c.4833T>C (p.His1611=)
c.4887T>C (p.His1629=)
c.*4209T>C (n.*4209T>C)
c.230+11509T>C
c.4917T>C (p.His1639=)
c.4812T>C (p.His1604=)
c.4803T>C (p.His1601=)
c.4764T>C (p.His1588=)
c.4710T>C (p.His1570=)
c.4614T>C (p.His1538=)
c.4584T>C (p.His1528=)
c.4509T>C (p.His1503=)
c.4407T>C (p.His1469=)
c.4038T>C (p.His1346=)
 ClinVar dbSNP
5g.112840481T>GCA16032042APCc.4941T>G (p.His1647Gln)
c.*4893T>G (n.*4893T>G)
c.4833T>G (p.His1611Gln)
c.4887T>G (p.His1629Gln)
c.*4209T>G (n.*4209T>G)
c.230+11509T>G
c.4917T>G (p.His1639Gln)
c.4812T>G (p.His1604Gln)
c.4803T>G (p.His1601Gln)
c.4764T>G (p.His1588Gln)
c.4710T>G (p.His1570Gln)
c.4614T>G (p.His1538Gln)
c.4584T>G (p.His1528Gln)
c.4509T>G (p.His1503Gln)
c.4407T>G (p.His1469Gln)
c.4038T>G (p.His1346Gln)
5g.112840481_112840485delinsTGTTACA1573472249APCc.4941_4945delinsTGTTA (p.His1647=)
c.*4893_*4897delinsTGTTA (n.*4893_*4897delinsTGTTA)
c.4833_4837delinsTGTTA (p.His1611=)
c.4887_4891delinsTGTTA (p.His1629=)
c.*4209_*4213delinsTGTTA (n.*4209_*4213delinsTGTTA)
c.230+11509_230+11513delinsTGTTA
c.4917_4921delinsTGTTA (p.His1639=)
c.4812_4816delinsTGTTA (p.His1604=)
c.4803_4807delinsTGTTA (p.His1601=)
c.4764_4768delinsTGTTA (p.His1588=)
c.4710_4714delinsTGTTA (p.His1570=)
c.4614_4618delinsTGTTA (p.His1538=)
c.4584_4588delinsTGTTA (p.His1528=)
c.4509_4513delinsTGTTA (p.His1503=)
c.4407_4411delinsTGTTA (p.His1469=)
c.4038_4042delinsTGTTA (p.His1346=)
5g.112840482G>ACA16032043APCc.4942G>A (p.Val1648Ile)
c.*4894G>A (n.*4894G>A)
c.4834G>A (p.Val1612Ile)
c.4888G>A (p.Val1630Ile)
c.*4210G>A (n.*4210G>A)
c.230+11510G>A
c.4918G>A (p.Val1640Ile)
c.4813G>A (p.Val1605Ile)
c.4804G>A (p.Val1602Ile)
c.4765G>A (p.Val1589Ile)
c.4711G>A (p.Val1571Ile)
c.4615G>A (p.Val1539Ile)
c.4585G>A (p.Val1529Ile)
c.4510G>A (p.Val1504Ile)
c.4408G>A (p.Val1470Ile)
c.4039G>A (p.Val1347Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840482G>CCA16032044APCc.4942G>C (p.Val1648Leu)
c.*4894G>C (n.*4894G>C)
c.4834G>C (p.Val1612Leu)
c.4888G>C (p.Val1630Leu)
c.*4210G>C (n.*4210G>C)
c.230+11510G>C
c.4918G>C (p.Val1640Leu)
c.4813G>C (p.Val1605Leu)
c.4804G>C (p.Val1602Leu)
c.4765G>C (p.Val1589Leu)
c.4711G>C (p.Val1571Leu)
c.4615G>C (p.Val1539Leu)
c.4585G>C (p.Val1529Leu)
c.4510G>C (p.Val1504Leu)
c.4408G>C (p.Val1470Leu)
c.4039G>C (p.Val1347Leu)
5g.112840482G=CA1573472266APCc.4942G= (p.Val1648=)
c.*4894G= (n.*4894G=)
c.4834G= (p.Val1612=)
c.4888G= (p.Val1630=)
c.*4210G= (n.*4210G=)
c.230+11510G=
c.4918G= (p.Val1640=)
c.4813G= (p.Val1605=)
c.4804G= (p.Val1602=)
c.4765G= (p.Val1589=)
c.4711G= (p.Val1571=)
c.4615G= (p.Val1539=)
c.4585G= (p.Val1529=)
c.4510G= (p.Val1504=)
c.4408G= (p.Val1470=)
c.4039G= (p.Val1347=)
5g.112840482G>TCA16032045APCc.4942G>T (p.Val1648Phe)
c.*4894G>T (n.*4894G>T)
c.4834G>T (p.Val1612Phe)
c.4888G>T (p.Val1630Phe)
c.*4210G>T (n.*4210G>T)
c.230+11510G>T
c.4918G>T (p.Val1640Phe)
c.4813G>T (p.Val1605Phe)
c.4804G>T (p.Val1602Phe)
c.4765G>T (p.Val1589Phe)
c.4711G>T (p.Val1571Phe)
c.4615G>T (p.Val1539Phe)
c.4585G>T (p.Val1529Phe)
c.4510G>T (p.Val1504Phe)
c.4408G>T (p.Val1470Phe)
c.4039G>T (p.Val1347Phe)
5g.112840482_112840483delinsGTCA1573472257APCc.4942_4943delinsGT (p.Val1648=)
c.*4894_*4895delinsGT (n.*4894_*4895delinsGT)
c.4834_4835delinsGT (p.Val1612=)
c.4888_4889delinsGT (p.Val1630=)
c.*4210_*4211delinsGT (n.*4210_*4211delinsGT)
c.230+11510_230+11511delinsGT
c.4918_4919delinsGT (p.Val1640=)
c.4813_4814delinsGT (p.Val1605=)
c.4804_4805delinsGT (p.Val1602=)
c.4765_4766delinsGT (p.Val1589=)
c.4711_4712delinsGT (p.Val1571=)
c.4615_4616delinsGT (p.Val1539=)
c.4585_4586delinsGT (p.Val1529=)
c.4510_4511delinsGT (p.Val1504=)
c.4408_4409delinsGT (p.Val1470=)
c.4039_4040delinsGT (p.Val1347=)
5g.112840485_112840488delCA891841968APCc.4945_4948del (p.Ser1649LeufsTer18)
c.*4897_*4900del (n.*4897_*4900del)
c.4837_4840del (p.Ser1613LeufsTer18)
c.4891_4894del (p.Ser1631LeufsTer18)
c.*4213_*4216del (n.*4213_*4216del)
c.230+11513_230+11516del
c.4921_4924del (p.Ser1641LeufsTer18)
c.4816_4819del (p.Ser1606LeufsTer18)
c.4807_4810del (p.Ser1603LeufsTer18)
c.4768_4771del (p.Ser1590LeufsTer18)
c.4714_4717del (p.Ser1572LeufsTer18)
c.4618_4621del (p.Ser1540LeufsTer18)
c.4588_4591del (p.Ser1530LeufsTer18)
c.4513_4516del (p.Ser1505LeufsTer18)
c.4411_4414del (p.Ser1471LeufsTer18)
c.4042_4045del (p.Ser1348LeufsTer18)
 ClinVar dbSNP
5g.112840483T>ACA16032046APCc.4943T>A (p.Val1648Asp)
c.*4895T>A (n.*4895T>A)
c.4835T>A (p.Val1612Asp)
c.4889T>A (p.Val1630Asp)
c.*4211T>A (n.*4211T>A)
c.230+11511T>A
c.4919T>A (p.Val1640Asp)
c.4814T>A (p.Val1605Asp)
c.4805T>A (p.Val1602Asp)
c.4766T>A (p.Val1589Asp)
c.4712T>A (p.Val1571Asp)
c.4616T>A (p.Val1539Asp)
c.4586T>A (p.Val1529Asp)
c.4511T>A (p.Val1504Asp)
c.4409T>A (p.Val1470Asp)
c.4040T>A (p.Val1347Asp)
 dbSNP
5g.112840483T>CCA16032047APCc.4943T>C (p.Val1648Ala)
c.*4895T>C (n.*4895T>C)
c.4835T>C (p.Val1612Ala)
c.4889T>C (p.Val1630Ala)
c.*4211T>C (n.*4211T>C)
c.230+11511T>C
c.4919T>C (p.Val1640Ala)
c.4814T>C (p.Val1605Ala)
c.4805T>C (p.Val1602Ala)
c.4766T>C (p.Val1589Ala)
c.4712T>C (p.Val1571Ala)
c.4616T>C (p.Val1539Ala)
c.4586T>C (p.Val1529Ala)
c.4511T>C (p.Val1504Ala)
c.4409T>C (p.Val1470Ala)
c.4040T>C (p.Val1347Ala)
 dbSNP
5g.112840483T>GCA16032048APCc.4943T>G (p.Val1648Gly)
c.*4895T>G (n.*4895T>G)
c.4835T>G (p.Val1612Gly)
c.4889T>G (p.Val1630Gly)
c.*4211T>G (n.*4211T>G)
c.230+11511T>G
c.4919T>G (p.Val1640Gly)
c.4814T>G (p.Val1605Gly)
c.4805T>G (p.Val1602Gly)
c.4766T>G (p.Val1589Gly)
c.4712T>G (p.Val1571Gly)
c.4616T>G (p.Val1539Gly)
c.4586T>G (p.Val1529Gly)
c.4511T>G (p.Val1504Gly)
c.4409T>G (p.Val1470Gly)
c.4040T>G (p.Val1347Gly)
 dbSNP
5g.112840484delCA645369375APCc.4944del (p.Ser1649ValfsTer19)
c.*4896del (n.*4896del)
c.4836del (p.Ser1613ValfsTer19)
c.4890del (p.Ser1631ValfsTer19)
c.*4212del (n.*4212del)
c.230+11512del
c.4920del (p.Ser1641ValfsTer19)
c.4815del (p.Ser1606ValfsTer19)
c.4806del (p.Ser1603ValfsTer19)
c.4767del (p.Ser1590ValfsTer19)
c.4713del (p.Ser1572ValfsTer19)
c.4617del (p.Ser1540ValfsTer19)
c.4587del (p.Ser1530ValfsTer19)
c.4512del (p.Ser1505ValfsTer19)
c.4410del (p.Ser1471ValfsTer19)
c.4041del (p.Ser1348ValfsTer19)
 ClinVar dbSNP
5g.112840484T>ACA446208107APCc.4944T>A (p.Val1648=)
c.*4896T>A (n.*4896T>A)
c.4836T>A (p.Val1612=)
c.4890T>A (p.Val1630=)
c.*4212T>A (n.*4212T>A)
c.230+11512T>A
c.4920T>A (p.Val1640=)
c.4815T>A (p.Val1605=)
c.4806T>A (p.Val1602=)
c.4767T>A (p.Val1589=)
c.4713T>A (p.Val1571=)
c.4617T>A (p.Val1539=)
c.4587T>A (p.Val1529=)
c.4512T>A (p.Val1504=)
c.4410T>A (p.Val1470=)
c.4041T>A (p.Val1347=)
5g.112840484T>CCA040039APCc.4944T>C (p.Val1648=)
c.*4896T>C (n.*4896T>C)
c.4836T>C (p.Val1612=)
c.4890T>C (p.Val1630=)
c.*4212T>C (n.*4212T>C)
c.230+11512T>C
c.4920T>C (p.Val1640=)
c.4815T>C (p.Val1605=)
c.4806T>C (p.Val1602=)
c.4767T>C (p.Val1589=)
c.4713T>C (p.Val1571=)
c.4617T>C (p.Val1539=)
c.4587T>C (p.Val1529=)
c.4512T>C (p.Val1504=)
c.4410T>C (p.Val1470=)
c.4041T>C (p.Val1347=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840484T>GCA446208108APCc.4944T>G (p.Val1648=)
c.*4896T>G (n.*4896T>G)
c.4836T>G (p.Val1612=)
c.4890T>G (p.Val1630=)
c.*4212T>G (n.*4212T>G)
c.230+11512T>G
c.4920T>G (p.Val1640=)
c.4815T>G (p.Val1605=)
c.4806T>G (p.Val1602=)
c.4767T>G (p.Val1589=)
c.4713T>G (p.Val1571=)
c.4617T>G (p.Val1539=)
c.4587T>G (p.Val1529=)
c.4512T>G (p.Val1504=)
c.4410T>G (p.Val1470=)
c.4041T>G (p.Val1347=)
 ClinVar
5g.112840484T=CA1573472278APCc.4944T= (p.Val1648=)
c.*4896T= (n.*4896T=)
c.4836T= (p.Val1612=)
c.4890T= (p.Val1630=)
c.*4212T= (n.*4212T=)
c.230+11512T=
c.4920T= (p.Val1640=)
c.4815T= (p.Val1605=)
c.4806T= (p.Val1602=)
c.4767T= (p.Val1589=)
c.4713T= (p.Val1571=)
c.4617T= (p.Val1539=)
c.4587T= (p.Val1529=)
c.4512T= (p.Val1504=)
c.4410T= (p.Val1470=)
c.4041T= (p.Val1347=)
5g.112840484_112840485insTTGTGATGGTAGACA2767941945APCc.4944_4945insTTGTGATGGTAGA (p.Ser1649LeufsTer2)
c.*4896_*4897insTTGTGATGGTAGA (n.*4896_*4897insTTGTGATGGTAGA)
c.4836_4837insTTGTGATGGTAGA (p.Ser1613LeufsTer2)
c.4890_4891insTTGTGATGGTAGA (p.Ser1631LeufsTer2)
c.*4212_*4213insTTGTGATGGTAGA (n.*4212_*4213insTTGTGATGGTAGA)
c.230+11512_230+11513insTTGTGATGGTAGA
c.4920_4921insTTGTGATGGTAGA (p.Ser1641LeufsTer2)
c.4815_4816insTTGTGATGGTAGA (p.Ser1606LeufsTer2)
c.4806_4807insTTGTGATGGTAGA (p.Ser1603LeufsTer2)
c.4767_4768insTTGTGATGGTAGA (p.Ser1590LeufsTer2)
c.4713_4714insTTGTGATGGTAGA (p.Ser1572LeufsTer2)
c.4617_4618insTTGTGATGGTAGA (p.Ser1540LeufsTer2)
c.4587_4588insTTGTGATGGTAGA (p.Ser1530LeufsTer2)
c.4512_4513insTTGTGATGGTAGA (p.Ser1505LeufsTer2)
c.4410_4411insTTGTGATGGTAGA (p.Ser1471LeufsTer2)
c.4041_4042insTTGTGATGGTAGA (p.Ser1348LeufsTer2)
5g.112840485A=CA1573472286APCc.4945A= (p.Ser1649=)
c.*4897A= (n.*4897A=)
c.4837A= (p.Ser1613=)
c.4891A= (p.Ser1631=)
c.*4213A= (n.*4213A=)
c.230+11513A=
c.4921A= (p.Ser1641=)
c.4816A= (p.Ser1606=)
c.4807A= (p.Ser1603=)
c.4768A= (p.Ser1590=)
c.4714A= (p.Ser1572=)
c.4618A= (p.Ser1540=)
c.4588A= (p.Ser1530=)
c.4513A= (p.Ser1505=)
c.4411A= (p.Ser1471=)
c.4042A= (p.Ser1348=)
5g.112840485A>CCA16032049APCc.4945A>C (p.Ser1649Arg)
c.*4897A>C (n.*4897A>C)
c.4837A>C (p.Ser1613Arg)
c.4891A>C (p.Ser1631Arg)
c.*4213A>C (n.*4213A>C)
c.230+11513A>C
c.4921A>C (p.Ser1641Arg)
c.4816A>C (p.Ser1606Arg)
c.4807A>C (p.Ser1603Arg)
c.4768A>C (p.Ser1590Arg)
c.4714A>C (p.Ser1572Arg)
c.4618A>C (p.Ser1540Arg)
c.4588A>C (p.Ser1530Arg)
c.4513A>C (p.Ser1505Arg)
c.4411A>C (p.Ser1471Arg)
c.4042A>C (p.Ser1348Arg)
5g.112840485A>GCA16032050APCc.4945A>G (p.Ser1649Gly)
c.*4897A>G (n.*4897A>G)
c.4837A>G (p.Ser1613Gly)
c.4891A>G (p.Ser1631Gly)
c.*4213A>G (n.*4213A>G)
c.230+11513A>G
c.4921A>G (p.Ser1641Gly)
c.4816A>G (p.Ser1606Gly)
c.4807A>G (p.Ser1603Gly)
c.4768A>G (p.Ser1590Gly)
c.4714A>G (p.Ser1572Gly)
c.4618A>G (p.Ser1540Gly)
c.4588A>G (p.Ser1530Gly)
c.4513A>G (p.Ser1505Gly)
c.4411A>G (p.Ser1471Gly)
c.4042A>G (p.Ser1348Gly)
 dbSNP
5g.112840485A>TCA10578384APCc.4945A>T (p.Ser1649Cys)
c.*4897A>T (n.*4897A>T)
c.4837A>T (p.Ser1613Cys)
c.4891A>T (p.Ser1631Cys)
c.*4213A>T (n.*4213A>T)
c.230+11513A>T
c.4921A>T (p.Ser1641Cys)
c.4816A>T (p.Ser1606Cys)
c.4807A>T (p.Ser1603Cys)
c.4768A>T (p.Ser1590Cys)
c.4714A>T (p.Ser1572Cys)
c.4618A>T (p.Ser1540Cys)
c.4588A>T (p.Ser1530Cys)
c.4513A>T (p.Ser1505Cys)
c.4411A>T (p.Ser1471Cys)
c.4042A>T (p.Ser1348Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840486G>ACA16032051APCc.4946G>A (p.Ser1649Asn)
c.*4898G>A (n.*4898G>A)
c.4838G>A (p.Ser1613Asn)
c.4892G>A (p.Ser1631Asn)
c.*4214G>A (n.*4214G>A)
c.230+11514G>A
c.4922G>A (p.Ser1641Asn)
c.4817G>A (p.Ser1606Asn)
c.4808G>A (p.Ser1603Asn)
c.4769G>A (p.Ser1590Asn)
c.4715G>A (p.Ser1572Asn)
c.4619G>A (p.Ser1540Asn)
c.4589G>A (p.Ser1530Asn)
c.4514G>A (p.Ser1505Asn)
c.4412G>A (p.Ser1471Asn)
c.4043G>A (p.Ser1348Asn)
 ClinVar dbSNP
5g.112840486G>CCA16032052APCc.4946G>C (p.Ser1649Thr)
c.*4898G>C (n.*4898G>C)
c.4838G>C (p.Ser1613Thr)
c.4892G>C (p.Ser1631Thr)
c.*4214G>C (n.*4214G>C)
c.230+11514G>C
c.4922G>C (p.Ser1641Thr)
c.4817G>C (p.Ser1606Thr)
c.4808G>C (p.Ser1603Thr)
c.4769G>C (p.Ser1590Thr)
c.4715G>C (p.Ser1572Thr)
c.4619G>C (p.Ser1540Thr)
c.4589G>C (p.Ser1530Thr)
c.4514G>C (p.Ser1505Thr)
c.4412G>C (p.Ser1471Thr)
c.4043G>C (p.Ser1348Thr)
 ClinVar dbSNP gnomAD v4
5g.112840486G=CA1573472293APCc.4946G= (p.Ser1649=)
c.*4898G= (n.*4898G=)
c.4838G= (p.Ser1613=)
c.4892G= (p.Ser1631=)
c.*4214G= (n.*4214G=)
c.230+11514G=
c.4922G= (p.Ser1641=)
c.4817G= (p.Ser1606=)
c.4808G= (p.Ser1603=)
c.4769G= (p.Ser1590=)
c.4715G= (p.Ser1572=)
c.4619G= (p.Ser1540=)
c.4589G= (p.Ser1530=)
c.4514G= (p.Ser1505=)
c.4412G= (p.Ser1471=)
c.4043G= (p.Ser1348=)
5g.112840486G>TCA16032053APCc.4946G>T (p.Ser1649Ile)
c.*4898G>T (n.*4898G>T)
c.4838G>T (p.Ser1613Ile)
c.4892G>T (p.Ser1631Ile)
c.*4214G>T (n.*4214G>T)
c.230+11514G>T
c.4922G>T (p.Ser1641Ile)
c.4817G>T (p.Ser1606Ile)
c.4808G>T (p.Ser1603Ile)
c.4769G>T (p.Ser1590Ile)
c.4715G>T (p.Ser1572Ile)
c.4619G>T (p.Ser1540Ile)
c.4589G>T (p.Ser1530Ile)
c.4514G>T (p.Ser1505Ile)
c.4412G>T (p.Ser1471Ile)
c.4043G>T (p.Ser1348Ile)
5g.112840487T>ACA16032054APCc.4947T>A (p.Ser1649Arg)
c.*4899T>A (n.*4899T>A)
c.4839T>A (p.Ser1613Arg)
c.4893T>A (p.Ser1631Arg)
c.*4215T>A (n.*4215T>A)
c.230+11515T>A
c.4923T>A (p.Ser1641Arg)
c.4818T>A (p.Ser1606Arg)
c.4809T>A (p.Ser1603Arg)
c.4770T>A (p.Ser1590Arg)
c.4716T>A (p.Ser1572Arg)
c.4620T>A (p.Ser1540Arg)
c.4590T>A (p.Ser1530Arg)
c.4515T>A (p.Ser1505Arg)
c.4413T>A (p.Ser1471Arg)
c.4044T>A (p.Ser1348Arg)
 dbSNP
5g.112840487T>CCA009779APCc.4947T>C (p.Ser1649=)
c.*4899T>C (n.*4899T>C)
c.4839T>C (p.Ser1613=)
c.4893T>C (p.Ser1631=)
c.*4215T>C (n.*4215T>C)
c.230+11515T>C
c.4923T>C (p.Ser1641=)
c.4818T>C (p.Ser1606=)
c.4809T>C (p.Ser1603=)
c.4770T>C (p.Ser1590=)
c.4716T>C (p.Ser1572=)
c.4620T>C (p.Ser1540=)
c.4590T>C (p.Ser1530=)
c.4515T>C (p.Ser1505=)
c.4413T>C (p.Ser1471=)
c.4044T>C (p.Ser1348=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840487T>GCA16032055APCc.4947T>G (p.Ser1649Arg)
c.*4899T>G (n.*4899T>G)
c.4839T>G (p.Ser1613Arg)
c.4893T>G (p.Ser1631Arg)
c.*4215T>G (n.*4215T>G)
c.230+11515T>G
c.4923T>G (p.Ser1641Arg)
c.4818T>G (p.Ser1606Arg)
c.4809T>G (p.Ser1603Arg)
c.4770T>G (p.Ser1590Arg)
c.4716T>G (p.Ser1572Arg)
c.4620T>G (p.Ser1540Arg)
c.4590T>G (p.Ser1530Arg)
c.4515T>G (p.Ser1505Arg)
c.4413T>G (p.Ser1471Arg)
c.4044T>G (p.Ser1348Arg)
 dbSNP
5g.112840487T=CA1573472301APCc.4947T= (p.Ser1649=)
c.*4899T= (n.*4899T=)
c.4839T= (p.Ser1613=)
c.4893T= (p.Ser1631=)
c.*4215T= (n.*4215T=)
c.230+11515T=
c.4923T= (p.Ser1641=)
c.4818T= (p.Ser1606=)
c.4809T= (p.Ser1603=)
c.4770T= (p.Ser1590=)
c.4716T= (p.Ser1572=)
c.4620T= (p.Ser1540=)
c.4590T= (p.Ser1530=)
c.4515T= (p.Ser1505=)
c.4413T= (p.Ser1471=)
c.4044T= (p.Ser1348=)
5g.112840488T>ACA16032056APCc.4948T>A (p.Phe1650Ile)
c.*4900T>A (n.*4900T>A)
c.4840T>A (p.Phe1614Ile)
c.4894T>A (p.Phe1632Ile)
c.*4216T>A (n.*4216T>A)
c.230+11516T>A
c.4924T>A (p.Phe1642Ile)
c.4819T>A (p.Phe1607Ile)
c.4810T>A (p.Phe1604Ile)
c.4771T>A (p.Phe1591Ile)
c.4717T>A (p.Phe1573Ile)
c.4621T>A (p.Phe1541Ile)
c.4591T>A (p.Phe1531Ile)
c.4516T>A (p.Phe1506Ile)
c.4414T>A (p.Phe1472Ile)
c.4045T>A (p.Phe1349Ile)
 dbSNP
5g.112840488T>CCA16032057APCc.4948T>C (p.Phe1650Leu)
c.*4900T>C (n.*4900T>C)
c.4840T>C (p.Phe1614Leu)
c.4894T>C (p.Phe1632Leu)
c.*4216T>C (n.*4216T>C)
c.230+11516T>C
c.4924T>C (p.Phe1642Leu)
c.4819T>C (p.Phe1607Leu)
c.4810T>C (p.Phe1604Leu)
c.4771T>C (p.Phe1591Leu)
c.4717T>C (p.Phe1573Leu)
c.4621T>C (p.Phe1541Leu)
c.4591T>C (p.Phe1531Leu)
c.4516T>C (p.Phe1506Leu)
c.4414T>C (p.Phe1472Leu)
c.4045T>C (p.Phe1349Leu)
 dbSNP gnomAD v4
5g.112840488T>GCA16032058APCc.4948T>G (p.Phe1650Val)
c.*4900T>G (n.*4900T>G)
c.4840T>G (p.Phe1614Val)
c.4894T>G (p.Phe1632Val)
c.*4216T>G (n.*4216T>G)
c.230+11516T>G
c.4924T>G (p.Phe1642Val)
c.4819T>G (p.Phe1607Val)
c.4810T>G (p.Phe1604Val)
c.4771T>G (p.Phe1591Val)
c.4717T>G (p.Phe1573Val)
c.4621T>G (p.Phe1541Val)
c.4591T>G (p.Phe1531Val)
c.4516T>G (p.Phe1506Val)
c.4414T>G (p.Phe1472Val)
c.4045T>G (p.Phe1349Val)
 dbSNP
5g.112840489T>ACA16032059APCc.4949T>A (p.Phe1650Tyr)
c.*4901T>A (n.*4901T>A)
c.4841T>A (p.Phe1614Tyr)
c.4895T>A (p.Phe1632Tyr)
c.*4217T>A (n.*4217T>A)
c.230+11517T>A
c.4925T>A (p.Phe1642Tyr)
c.4820T>A (p.Phe1607Tyr)
c.4811T>A (p.Phe1604Tyr)
c.4772T>A (p.Phe1591Tyr)
c.4718T>A (p.Phe1573Tyr)
c.4622T>A (p.Phe1541Tyr)
c.4592T>A (p.Phe1531Tyr)
c.4517T>A (p.Phe1506Tyr)
c.4415T>A (p.Phe1472Tyr)
c.4046T>A (p.Phe1349Tyr)
 dbSNP
5g.112840489T>CCA16032060APCc.4949T>C (p.Phe1650Ser)
c.*4901T>C (n.*4901T>C)
c.4841T>C (p.Phe1614Ser)
c.4895T>C (p.Phe1632Ser)
c.*4217T>C (n.*4217T>C)
c.230+11517T>C
c.4925T>C (p.Phe1642Ser)
c.4820T>C (p.Phe1607Ser)
c.4811T>C (p.Phe1604Ser)
c.4772T>C (p.Phe1591Ser)
c.4718T>C (p.Phe1573Ser)
c.4622T>C (p.Phe1541Ser)
c.4592T>C (p.Phe1531Ser)
c.4517T>C (p.Phe1506Ser)
c.4415T>C (p.Phe1472Ser)
c.4046T>C (p.Phe1349Ser)
 dbSNP
5g.112840489T>GCA16032061APCc.4949T>G (p.Phe1650Cys)
c.*4901T>G (n.*4901T>G)
c.4841T>G (p.Phe1614Cys)
c.4895T>G (p.Phe1632Cys)
c.*4217T>G (n.*4217T>G)
c.230+11517T>G
c.4925T>G (p.Phe1642Cys)
c.4820T>G (p.Phe1607Cys)
c.4811T>G (p.Phe1604Cys)
c.4772T>G (p.Phe1591Cys)
c.4718T>G (p.Phe1573Cys)
c.4622T>G (p.Phe1541Cys)
c.4592T>G (p.Phe1531Cys)
c.4517T>G (p.Phe1506Cys)
c.4415T>G (p.Phe1472Cys)
c.4046T>G (p.Phe1349Cys)
5g.112840490T>ACA16032062APCc.4950T>A (p.Phe1650Leu)
c.*4902T>A (n.*4902T>A)
c.4842T>A (p.Phe1614Leu)
c.4896T>A (p.Phe1632Leu)
c.*4218T>A (n.*4218T>A)
c.230+11518T>A
c.4926T>A (p.Phe1642Leu)
c.4821T>A (p.Phe1607Leu)
c.4812T>A (p.Phe1604Leu)
c.4773T>A (p.Phe1591Leu)
c.4719T>A (p.Phe1573Leu)
c.4623T>A (p.Phe1541Leu)
c.4593T>A (p.Phe1531Leu)
c.4518T>A (p.Phe1506Leu)
c.4416T>A (p.Phe1472Leu)
c.4047T>A (p.Phe1349Leu)
 dbSNP
5g.112840490T>CCA446208109APCc.4950T>C (p.Phe1650=)
c.*4902T>C (n.*4902T>C)
c.4842T>C (p.Phe1614=)
c.4896T>C (p.Phe1632=)
c.*4218T>C (n.*4218T>C)
c.230+11518T>C
c.4926T>C (p.Phe1642=)
c.4821T>C (p.Phe1607=)
c.4812T>C (p.Phe1604=)
c.4773T>C (p.Phe1591=)
c.4719T>C (p.Phe1573=)
c.4623T>C (p.Phe1541=)
c.4593T>C (p.Phe1531=)
c.4518T>C (p.Phe1506=)
c.4416T>C (p.Phe1472=)
c.4047T>C (p.Phe1349=)
5g.112840490T>GCA16032063APCc.4950T>G (p.Phe1650Leu)
c.*4902T>G (n.*4902T>G)
c.4842T>G (p.Phe1614Leu)
c.4896T>G (p.Phe1632Leu)
c.*4218T>G (n.*4218T>G)
c.230+11518T>G
c.4926T>G (p.Phe1642Leu)
c.4821T>G (p.Phe1607Leu)
c.4812T>G (p.Phe1604Leu)
c.4773T>G (p.Phe1591Leu)
c.4719T>G (p.Phe1573Leu)
c.4623T>G (p.Phe1541Leu)
c.4593T>G (p.Phe1531Leu)
c.4518T>G (p.Phe1506Leu)
c.4416T>G (p.Phe1472Leu)
c.4047T>G (p.Phe1349Leu)
5g.112840490_112840491delinsTACA1573472306APCc.4950_4951delinsTA (p.Phe1650=)
c.*4902_*4903delinsTA (n.*4902_*4903delinsTA)
c.4842_4843delinsTA (p.Phe1614=)
c.4896_4897delinsTA (p.Phe1632=)
c.*4218_*4219delinsTA (n.*4218_*4219delinsTA)
c.230+11518_230+11519delinsTA
c.4926_4927delinsTA (p.Phe1642=)
c.4821_4822delinsTA (p.Phe1607=)
c.4812_4813delinsTA (p.Phe1604=)
c.4773_4774delinsTA (p.Phe1591=)
c.4719_4720delinsTA (p.Phe1573=)
c.4623_4624delinsTA (p.Phe1541=)
c.4593_4594delinsTA (p.Phe1531=)
c.4518_4519delinsTA (p.Phe1506=)
c.4416_4417delinsTA (p.Phe1472=)
c.4047_4048delinsTA (p.Phe1349=)
5g.112840491A>CCA16032064APCc.4951A>C (p.Thr1651Pro)
c.*4903A>C (n.*4903A>C)
c.4843A>C (p.Thr1615Pro)
c.4897A>C (p.Thr1633Pro)
c.*4219A>C (n.*4219A>C)
c.230+11519A>C
c.4927A>C (p.Thr1643Pro)
c.4822A>C (p.Thr1608Pro)
c.4813A>C (p.Thr1605Pro)
c.4774A>C (p.Thr1592Pro)
c.4720A>C (p.Thr1574Pro)
c.4624A>C (p.Thr1542Pro)
c.4594A>C (p.Thr1532Pro)
c.4519A>C (p.Thr1507Pro)
c.4417A>C (p.Thr1473Pro)
c.4048A>C (p.Thr1350Pro)
 dbSNP
5g.112840491A>GCA16032065APCc.4951A>G (p.Thr1651Ala)
c.*4903A>G (n.*4903A>G)
c.4843A>G (p.Thr1615Ala)
c.4897A>G (p.Thr1633Ala)
c.*4219A>G (n.*4219A>G)
c.230+11519A>G
c.4927A>G (p.Thr1643Ala)
c.4822A>G (p.Thr1608Ala)
c.4813A>G (p.Thr1605Ala)
c.4774A>G (p.Thr1592Ala)
c.4720A>G (p.Thr1574Ala)
c.4624A>G (p.Thr1542Ala)
c.4594A>G (p.Thr1532Ala)
c.4519A>G (p.Thr1507Ala)
c.4417A>G (p.Thr1473Ala)
c.4048A>G (p.Thr1350Ala)
 dbSNP gnomAD v4
5g.112840491A>TCA16032066APCc.4951A>T (p.Thr1651Ser)
c.*4903A>T (n.*4903A>T)
c.4843A>T (p.Thr1615Ser)
c.4897A>T (p.Thr1633Ser)
c.*4219A>T (n.*4219A>T)
c.230+11519A>T
c.4927A>T (p.Thr1643Ser)
c.4822A>T (p.Thr1608Ser)
c.4813A>T (p.Thr1605Ser)
c.4774A>T (p.Thr1592Ser)
c.4720A>T (p.Thr1574Ser)
c.4624A>T (p.Thr1542Ser)
c.4594A>T (p.Thr1532Ser)
c.4519A>T (p.Thr1507Ser)
c.4417A>T (p.Thr1473Ser)
c.4048A>T (p.Thr1350Ser)
 dbSNP
5g.112840491delinsTGCA1139659016APCc.4951delinsTG (p.Thr1651CysfsTer5)
c.*4903delinsTG (n.*4903delinsTG)
c.4843delinsTG (p.Thr1615CysfsTer5)
c.4897delinsTG (p.Thr1633CysfsTer5)
c.*4219delinsTG (n.*4219delinsTG)
c.230+11519delinsTG
c.4927delinsTG (p.Thr1643CysfsTer5)
c.4822delinsTG (p.Thr1608CysfsTer5)
c.4813delinsTG (p.Thr1605CysfsTer5)
c.4774delinsTG (p.Thr1592CysfsTer5)
c.4720delinsTG (p.Thr1574CysfsTer5)
c.4624delinsTG (p.Thr1542CysfsTer5)
c.4594delinsTG (p.Thr1532CysfsTer5)
c.4519delinsTG (p.Thr1507CysfsTer5)
c.4417delinsTG (p.Thr1473CysfsTer5)
c.4048delinsTG (p.Thr1350CysfsTer5)
 ClinVar dbSNP
5g.112840491dupCA2697546421APCc.4951dup (p.Thr1651AsnfsTer5)
c.*4903dup (n.*4903dup)
c.4843dup (p.Thr1615AsnfsTer5)
c.4897dup (p.Thr1633AsnfsTer5)
c.*4219dup (n.*4219dup)
c.230+11519dup
c.4927dup (p.Thr1643AsnfsTer5)
c.4822dup (p.Thr1608AsnfsTer5)
c.4813dup (p.Thr1605AsnfsTer5)
c.4774dup (p.Thr1592AsnfsTer5)
c.4720dup (p.Thr1574AsnfsTer5)
c.4624dup (p.Thr1542AsnfsTer5)
c.4594dup (p.Thr1532AsnfsTer5)
c.4519dup (p.Thr1507AsnfsTer5)
c.4417dup (p.Thr1473AsnfsTer5)
c.4048dup (p.Thr1350AsnfsTer5)
 ClinVar
5g.112840493_112840494delCA658760790APCc.4953_4954del (p.Pro1652GlyfsTer3)
c.*4905_*4906del (n.*4905_*4906del)
c.4845_4846del (p.Pro1616GlyfsTer3)
c.4899_4900del (p.Pro1634GlyfsTer3)
c.*4221_*4222del (n.*4221_*4222del)
c.230+11521_230+11522del
c.4929_4930del (p.Pro1644GlyfsTer3)
c.4824_4825del (p.Pro1609GlyfsTer3)
c.4815_4816del (p.Pro1606GlyfsTer3)
c.4776_4777del (p.Pro1593GlyfsTer3)
c.4722_4723del (p.Pro1575GlyfsTer3)
c.4626_4627del (p.Pro1543GlyfsTer3)
c.4596_4597del (p.Pro1533GlyfsTer3)
c.4521_4522del (p.Pro1508GlyfsTer3)
c.4419_4420del (p.Pro1474GlyfsTer3)
c.4050_4051del (p.Pro1351GlyfsTer3)
5g.112840492C>ACA16032067APCc.4952C>A (p.Thr1651Lys)
c.*4904C>A (n.*4904C>A)
c.4844C>A (p.Thr1615Lys)
c.4898C>A (p.Thr1633Lys)
c.*4220C>A (n.*4220C>A)
c.230+11520C>A
c.4928C>A (p.Thr1643Lys)
c.4823C>A (p.Thr1608Lys)
c.4814C>A (p.Thr1605Lys)
c.4775C>A (p.Thr1592Lys)
c.4721C>A (p.Thr1574Lys)
c.4625C>A (p.Thr1542Lys)
c.4595C>A (p.Thr1532Lys)
c.4520C>A (p.Thr1507Lys)
c.4418C>A (p.Thr1473Lys)
c.4049C>A (p.Thr1350Lys)
 ClinVar dbSNP gnomAD v4
5g.112840492C=CA1573472316APCc.4952C= (p.Thr1651=)
c.*4904C= (n.*4904C=)
c.4844C= (p.Thr1615=)
c.4898C= (p.Thr1633=)
c.*4220C= (n.*4220C=)
c.230+11520C=
c.4928C= (p.Thr1643=)
c.4823C= (p.Thr1608=)
c.4814C= (p.Thr1605=)
c.4775C= (p.Thr1592=)
c.4721C= (p.Thr1574=)
c.4625C= (p.Thr1542=)
c.4595C= (p.Thr1532=)
c.4520C= (p.Thr1507=)
c.4418C= (p.Thr1473=)
c.4049C= (p.Thr1350=)
5g.112840492C>GCA16032068APCc.4952C>G (p.Thr1651Arg)
c.*4904C>G (n.*4904C>G)
c.4844C>G (p.Thr1615Arg)
c.4898C>G (p.Thr1633Arg)
c.*4220C>G (n.*4220C>G)
c.230+11520C>G
c.4928C>G (p.Thr1643Arg)
c.4823C>G (p.Thr1608Arg)
c.4814C>G (p.Thr1605Arg)
c.4775C>G (p.Thr1592Arg)
c.4721C>G (p.Thr1574Arg)
c.4625C>G (p.Thr1542Arg)
c.4595C>G (p.Thr1532Arg)
c.4520C>G (p.Thr1507Arg)
c.4418C>G (p.Thr1473Arg)
c.4049C>G (p.Thr1350Arg)
 dbSNP
5g.112840492C>TCA040065APCc.4952C>T (p.Thr1651Ile)
c.*4904C>T (n.*4904C>T)
c.4844C>T (p.Thr1615Ile)
c.4898C>T (p.Thr1633Ile)
c.*4220C>T (n.*4220C>T)
c.230+11520C>T
c.4928C>T (p.Thr1643Ile)
c.4823C>T (p.Thr1608Ile)
c.4814C>T (p.Thr1605Ile)
c.4775C>T (p.Thr1592Ile)
c.4721C>T (p.Thr1574Ile)
c.4625C>T (p.Thr1542Ile)
c.4595C>T (p.Thr1532Ile)
c.4520C>T (p.Thr1507Ile)
c.4418C>T (p.Thr1473Ile)
c.4049C>T (p.Thr1350Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840493A=CA1573472333APCc.4953A= (p.Thr1651=)
c.*4905A= (n.*4905A=)
c.4845A= (p.Thr1615=)
c.4899A= (p.Thr1633=)
c.*4221A= (n.*4221A=)
c.230+11521A=
c.4929A= (p.Thr1643=)
c.4824A= (p.Thr1608=)
c.4815A= (p.Thr1605=)
c.4776A= (p.Thr1592=)
c.4722A= (p.Thr1574=)
c.4626A= (p.Thr1542=)
c.4596A= (p.Thr1532=)
c.4521A= (p.Thr1507=)
c.4419A= (p.Thr1473=)
c.4050A= (p.Thr1350=)
5g.112840493A>CCA125167792APCc.4953A>C (p.Thr1651=)
c.*4905A>C (n.*4905A>C)
c.4845A>C (p.Thr1615=)
c.4899A>C (p.Thr1633=)
c.*4221A>C (n.*4221A>C)
c.230+11521A>C
c.4929A>C (p.Thr1643=)
c.4824A>C (p.Thr1608=)
c.4815A>C (p.Thr1605=)
c.4776A>C (p.Thr1592=)
c.4722A>C (p.Thr1574=)
c.4626A>C (p.Thr1542=)
c.4596A>C (p.Thr1532=)
c.4521A>C (p.Thr1507=)
c.4419A>C (p.Thr1473=)
c.4050A>C (p.Thr1350=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840493A>GCA446208110APCc.4953A>G (p.Thr1651=)
c.*4905A>G (n.*4905A>G)
c.4845A>G (p.Thr1615=)
c.4899A>G (p.Thr1633=)
c.*4221A>G (n.*4221A>G)
c.230+11521A>G
c.4929A>G (p.Thr1643=)
c.4824A>G (p.Thr1608=)
c.4815A>G (p.Thr1605=)
c.4776A>G (p.Thr1592=)
c.4722A>G (p.Thr1574=)
c.4626A>G (p.Thr1542=)
c.4596A>G (p.Thr1532=)
c.4521A>G (p.Thr1507=)
c.4419A>G (p.Thr1473=)
c.4050A>G (p.Thr1350=)
 ClinVar dbSNP
5g.112840493A>TCA446208111APCc.4953A>T (p.Thr1651=)
c.*4905A>T (n.*4905A>T)
c.4845A>T (p.Thr1615=)
c.4899A>T (p.Thr1633=)
c.*4221A>T (n.*4221A>T)
c.230+11521A>T
c.4929A>T (p.Thr1643=)
c.4824A>T (p.Thr1608=)
c.4815A>T (p.Thr1605=)
c.4776A>T (p.Thr1592=)
c.4722A>T (p.Thr1574=)
c.4626A>T (p.Thr1542=)
c.4596A>T (p.Thr1532=)
c.4521A>T (p.Thr1507=)
c.4419A>T (p.Thr1473=)
c.4050A>T (p.Thr1350=)
 dbSNP
5g.112840493_112840494delinsACCA1573472323APCc.4953_4954delinsAC (p.Thr1651=)
c.*4905_*4906delinsAC (n.*4905_*4906delinsAC)
c.4845_4846delinsAC (p.Thr1615=)
c.4899_4900delinsAC (p.Thr1633=)
c.*4221_*4222delinsAC (n.*4221_*4222delinsAC)
c.230+11521_230+11522delinsAC
c.4929_4930delinsAC (p.Thr1643=)
c.4824_4825delinsAC (p.Thr1608=)
c.4815_4816delinsAC (p.Thr1605=)
c.4776_4777delinsAC (p.Thr1592=)
c.4722_4723delinsAC (p.Thr1574=)
c.4626_4627delinsAC (p.Thr1542=)
c.4596_4597delinsAC (p.Thr1532=)
c.4521_4522delinsAC (p.Thr1507=)
c.4419_4420delinsAC (p.Thr1473=)
c.4050_4051delinsAC (p.Thr1350=)
5g.112840494C>ACA16032069APCc.4954C>A (p.Pro1652Thr)
c.*4906C>A (n.*4906C>A)
c.4846C>A (p.Pro1616Thr)
c.4900C>A (p.Pro1634Thr)
c.*4222C>A (n.*4222C>A)
c.230+11522C>A
c.4930C>A (p.Pro1644Thr)
c.4825C>A (p.Pro1609Thr)
c.4816C>A (p.Pro1606Thr)
c.4777C>A (p.Pro1593Thr)
c.4723C>A (p.Pro1575Thr)
c.4627C>A (p.Pro1543Thr)
c.4597C>A (p.Pro1533Thr)
c.4522C>A (p.Pro1508Thr)
c.4420C>A (p.Pro1474Thr)
c.4051C>A (p.Pro1351Thr)
 dbSNP
5g.112840494C=CA1573472365APCc.4954C= (p.Pro1652=)
c.*4906C= (n.*4906C=)
c.4846C= (p.Pro1616=)
c.4900C= (p.Pro1634=)
c.*4222C= (n.*4222C=)
c.230+11522C=
c.4930C= (p.Pro1644=)
c.4825C= (p.Pro1609=)
c.4816C= (p.Pro1606=)
c.4777C= (p.Pro1593=)
c.4723C= (p.Pro1575=)
c.4627C= (p.Pro1543=)
c.4597C= (p.Pro1533=)
c.4522C= (p.Pro1508=)
c.4420C= (p.Pro1474=)
c.4051C= (p.Pro1351=)
5g.112840494C>GCA009785APCc.4954C>G (p.Pro1652Ala)
c.*4906C>G (n.*4906C>G)
c.4846C>G (p.Pro1616Ala)
c.4900C>G (p.Pro1634Ala)
c.*4222C>G (n.*4222C>G)
c.230+11522C>G
c.4930C>G (p.Pro1644Ala)
c.4825C>G (p.Pro1609Ala)
c.4816C>G (p.Pro1606Ala)
c.4777C>G (p.Pro1593Ala)
c.4723C>G (p.Pro1575Ala)
c.4627C>G (p.Pro1543Ala)
c.4597C>G (p.Pro1533Ala)
c.4522C>G (p.Pro1508Ala)
c.4420C>G (p.Pro1474Ala)
c.4051C>G (p.Pro1351Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840494C>TCA16032070APCc.4954C>T (p.Pro1652Ser)
c.*4906C>T (n.*4906C>T)
c.4846C>T (p.Pro1616Ser)
c.4900C>T (p.Pro1634Ser)
c.*4222C>T (n.*4222C>T)
c.230+11522C>T
c.4930C>T (p.Pro1644Ser)
c.4825C>T (p.Pro1609Ser)
c.4816C>T (p.Pro1606Ser)
c.4777C>T (p.Pro1593Ser)
c.4723C>T (p.Pro1575Ser)
c.4627C>T (p.Pro1543Ser)
c.4597C>T (p.Pro1533Ser)
c.4522C>T (p.Pro1508Ser)
c.4420C>T (p.Pro1474Ser)
c.4051C>T (p.Pro1351Ser)
 dbSNP
5g.112840495delCA16043407APCc.4955del (p.Pro1652ArgfsTer16)
c.*4907del (n.*4907del)
c.4847del (p.Pro1616ArgfsTer16)
c.4901del (p.Pro1634ArgfsTer16)
c.*4223del (n.*4223del)
c.230+11523del
c.4931del (p.Pro1644ArgfsTer16)
c.4826del (p.Pro1609ArgfsTer16)
c.4817del (p.Pro1606ArgfsTer16)
c.4778del (p.Pro1593ArgfsTer16)
c.4724del (p.Pro1575ArgfsTer16)
c.4628del (p.Pro1543ArgfsTer16)
c.4598del (p.Pro1533ArgfsTer16)
c.4523del (p.Pro1508ArgfsTer16)
c.4421del (p.Pro1474ArgfsTer16)
c.4052del (p.Pro1351ArgfsTer16)
 ClinVar dbSNP
5g.112840495C>ACA16032071APCc.4955C>A (p.Pro1652Gln)
c.*4907C>A (n.*4907C>A)
c.4847C>A (p.Pro1616Gln)
c.4901C>A (p.Pro1634Gln)
c.*4223C>A (n.*4223C>A)
c.230+11523C>A
c.4931C>A (p.Pro1644Gln)
c.4826C>A (p.Pro1609Gln)
c.4817C>A (p.Pro1606Gln)
c.4778C>A (p.Pro1593Gln)
c.4724C>A (p.Pro1575Gln)
c.4628C>A (p.Pro1543Gln)
c.4598C>A (p.Pro1533Gln)
c.4523C>A (p.Pro1508Gln)
c.4421C>A (p.Pro1474Gln)
c.4052C>A (p.Pro1351Gln)
 ClinVar dbSNP
5g.112840495C=CA1573472390APCc.4955C= (p.Pro1652=)
c.*4907C= (n.*4907C=)
c.4847C= (p.Pro1616=)
c.4901C= (p.Pro1634=)
c.*4223C= (n.*4223C=)
c.230+11523C=
c.4931C= (p.Pro1644=)
c.4826C= (p.Pro1609=)
c.4817C= (p.Pro1606=)
c.4778C= (p.Pro1593=)
c.4724C= (p.Pro1575=)
c.4628C= (p.Pro1543=)
c.4598C= (p.Pro1533=)
c.4523C= (p.Pro1508=)
c.4421C= (p.Pro1474=)
c.4052C= (p.Pro1351=)
5g.112840495C>GCA040125APCc.4955C>G (p.Pro1652Arg)
c.*4907C>G (n.*4907C>G)
c.4847C>G (p.Pro1616Arg)
c.4901C>G (p.Pro1634Arg)
c.*4223C>G (n.*4223C>G)
c.230+11523C>G
c.4931C>G (p.Pro1644Arg)
c.4826C>G (p.Pro1609Arg)
c.4817C>G (p.Pro1606Arg)
c.4778C>G (p.Pro1593Arg)
c.4724C>G (p.Pro1575Arg)
c.4628C>G (p.Pro1543Arg)
c.4598C>G (p.Pro1533Arg)
c.4523C>G (p.Pro1508Arg)
c.4421C>G (p.Pro1474Arg)
c.4052C>G (p.Pro1351Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840495C>TCA040139APCc.4955C>T (p.Pro1652Leu)
c.*4907C>T (n.*4907C>T)
c.4847C>T (p.Pro1616Leu)
c.4901C>T (p.Pro1634Leu)
c.*4223C>T (n.*4223C>T)
c.230+11523C>T
c.4931C>T (p.Pro1644Leu)
c.4826C>T (p.Pro1609Leu)
c.4817C>T (p.Pro1606Leu)
c.4778C>T (p.Pro1593Leu)
c.4724C>T (p.Pro1575Leu)
c.4628C>T (p.Pro1543Leu)
c.4598C>T (p.Pro1533Leu)
c.4523C>T (p.Pro1508Leu)
c.4421C>T (p.Pro1474Leu)
c.4052C>T (p.Pro1351Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112840496G>ACA10578385APCc.4956G>A (p.Pro1652=)
c.*4908G>A (n.*4908G>A)
c.4848G>A (p.Pro1616=)
c.4902G>A (p.Pro1634=)
c.*4224G>A (n.*4224G>A)
c.230+11524G>A
c.4932G>A (p.Pro1644=)
c.4827G>A (p.Pro1609=)
c.4818G>A (p.Pro1606=)
c.4779G>A (p.Pro1593=)
c.4725G>A (p.Pro1575=)
c.4629G>A (p.Pro1543=)
c.4599G>A (p.Pro1533=)
c.4524G>A (p.Pro1508=)
c.4422G>A (p.Pro1474=)
c.4053G>A (p.Pro1351=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.112840496G>CCA446208683APCc.4956G>C (p.Pro1652=)
c.*4908G>C (n.*4908G>C)
c.4848G>C (p.Pro1616=)
c.4902G>C (p.Pro1634=)
c.*4224G>C (n.*4224G>C)
c.230+11524G>C
c.4932G>C (p.Pro1644=)
c.4827G>C (p.Pro1609=)
c.4818G>C (p.Pro1606=)
c.4779G>C (p.Pro1593=)
c.4725G>C (p.Pro1575=)
c.4629G>C (p.Pro1543=)
c.4599G>C (p.Pro1533=)
c.4524G>C (p.Pro1508=)
c.4422G>C (p.Pro1474=)
c.4053G>C (p.Pro1351=)
 ClinVar dbSNP
5g.112840496G=CA1573472411APCc.4956G= (p.Pro1652=)
c.*4908G= (n.*4908G=)
c.4848G= (p.Pro1616=)
c.4902G= (p.Pro1634=)
c.*4224G= (n.*4224G=)
c.230+11524G=
c.4932G= (p.Pro1644=)
c.4827G= (p.Pro1609=)
c.4818G= (p.Pro1606=)
c.4779G= (p.Pro1593=)
c.4725G= (p.Pro1575=)
c.4629G= (p.Pro1543=)
c.4599G= (p.Pro1533=)
c.4524G= (p.Pro1508=)
c.4422G= (p.Pro1474=)
c.4053G= (p.Pro1351=)
5g.112840496G>TCA446208684APCc.4956G>T (p.Pro1652=)
c.*4908G>T (n.*4908G>T)
c.4848G>T (p.Pro1616=)
c.4902G>T (p.Pro1634=)
c.*4224G>T (n.*4224G>T)
c.230+11524G>T
c.4932G>T (p.Pro1644=)
c.4827G>T (p.Pro1609=)
c.4818G>T (p.Pro1606=)
c.4779G>T (p.Pro1593=)
c.4725G>T (p.Pro1575=)
c.4629G>T (p.Pro1543=)
c.4599G>T (p.Pro1533=)
c.4524G>T (p.Pro1508=)
c.4422G>T (p.Pro1474=)
c.4053G>T (p.Pro1351=)
 dbSNP
5g.112840500dupCA658655955APCc.4960dup (p.Asp1654GlyfsTer2)
c.*4912dup (n.*4912dup)
c.4852dup (p.Asp1618GlyfsTer2)
c.4906dup (p.Asp1636GlyfsTer2)
c.*4228dup (n.*4228dup)
c.230+11528dup
c.4936dup (p.Asp1646GlyfsTer2)
c.4831dup (p.Asp1611GlyfsTer2)
c.4822dup (p.Asp1608GlyfsTer2)
c.4783dup (p.Asp1595GlyfsTer2)
c.4729dup (p.Asp1577GlyfsTer2)
c.4633dup (p.Asp1545GlyfsTer2)
c.4603dup (p.Asp1535GlyfsTer2)
c.4528dup (p.Asp1510GlyfsTer2)
c.4426dup (p.Asp1476GlyfsTer2)
c.4057dup (p.Asp1353GlyfsTer2)
 ClinVar dbSNP
5g.112840500delCA658760792APCc.4960del (p.Asp1654MetfsTer14)
c.*4912del (n.*4912del)
c.4852del (p.Asp1618MetfsTer14)
c.4906del (p.Asp1636MetfsTer14)
c.*4228del (n.*4228del)
c.230+11528del
c.4936del (p.Asp1646MetfsTer14)
c.4831del (p.Asp1611MetfsTer14)
c.4822del (p.Asp1608MetfsTer14)
c.4783del (p.Asp1595MetfsTer14)
c.4729del (p.Asp1577MetfsTer14)
c.4633del (p.Asp1545MetfsTer14)
c.4603del (p.Asp1535MetfsTer14)
c.4528del (p.Asp1510MetfsTer14)
c.4426del (p.Asp1476MetfsTer14)
c.4057del (p.Asp1353MetfsTer14)
 ClinVar dbSNP
5g.112840497G>ACA16032072APCc.4957G>A (p.Gly1653Arg)
c.*4909G>A (n.*4909G>A)
c.4849G>A (p.Gly1617Arg)
c.4903G>A (p.Gly1635Arg)
c.*4225G>A (n.*4225G>A)
c.230+11525G>A
c.4933G>A (p.Gly1645Arg)
c.4828G>A (p.Gly1610Arg)
c.4819G>A (p.Gly1607Arg)
c.4780G>A (p.Gly1594Arg)
c.4726G>A (p.Gly1576Arg)
c.4630G>A (p.Gly1544Arg)
c.4600G>A (p.Gly1534Arg)
c.4525G>A (p.Gly1509Arg)
c.4423G>A (p.Gly1475Arg)
c.4054G>A (p.Gly1352Arg)
 dbSNP COSMIC
5g.112840497G>CCA16032073APCc.4957G>C (p.Gly1653Arg)
c.*4909G>C (n.*4909G>C)
c.4849G>C (p.Gly1617Arg)
c.4903G>C (p.Gly1635Arg)
c.*4225G>C (n.*4225G>C)
c.230+11525G>C
c.4933G>C (p.Gly1645Arg)
c.4828G>C (p.Gly1610Arg)
c.4819G>C (p.Gly1607Arg)
c.4780G>C (p.Gly1594Arg)
c.4726G>C (p.Gly1576Arg)
c.4630G>C (p.Gly1544Arg)
c.4600G>C (p.Gly1534Arg)
c.4525G>C (p.Gly1509Arg)
c.4423G>C (p.Gly1475Arg)
c.4054G>C (p.Gly1352Arg)
 dbSNP
5g.112840497G>TCA16032074APCc.4957G>T (p.Gly1653Trp)
c.*4909G>T (n.*4909G>T)
c.4849G>T (p.Gly1617Trp)
c.4903G>T (p.Gly1635Trp)
c.*4225G>T (n.*4225G>T)
c.230+11525G>T
c.4933G>T (p.Gly1645Trp)
c.4828G>T (p.Gly1610Trp)
c.4819G>T (p.Gly1607Trp)
c.4780G>T (p.Gly1594Trp)
c.4726G>T (p.Gly1576Trp)
c.4630G>T (p.Gly1544Trp)
c.4600G>T (p.Gly1534Trp)
c.4525G>T (p.Gly1509Trp)
c.4423G>T (p.Gly1475Trp)
c.4054G>T (p.Gly1352Trp)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112840498G>ACA16032075APCc.4958G>A (p.Gly1653Glu)
c.*4910G>A (n.*4910G>A)
c.4850G>A (p.Gly1617Glu)
c.4904G>A (p.Gly1635Glu)
c.*4226G>A (n.*4226G>A)
c.230+11526G>A
c.4934G>A (p.Gly1645Glu)
c.4829G>A (p.Gly1610Glu)
c.4820G>A (p.Gly1607Glu)
c.4781G>A (p.Gly1594Glu)
c.4727G>A (p.Gly1576Glu)
c.4631G>A (p.Gly1544Glu)
c.4601G>A (p.Gly1534Glu)
c.4526G>A (p.Gly1509Glu)
c.4424G>A (p.Gly1475Glu)
c.4055G>A (p.Gly1352Glu)
 ClinVar dbSNP
5g.112840498G>CCA16032076APCc.4958G>C (p.Gly1653Ala)
c.*4910G>C (n.*4910G>C)
c.4850G>C (p.Gly1617Ala)
c.4904G>C (p.Gly1635Ala)
c.*4226G>C (n.*4226G>C)
c.230+11526G>C
c.4934G>C (p.Gly1645Ala)
c.4829G>C (p.Gly1610Ala)
c.4820G>C (p.Gly1607Ala)
c.4781G>C (p.Gly1594Ala)
c.4727G>C (p.Gly1576Ala)
c.4631G>C (p.Gly1544Ala)
c.4601G>C (p.Gly1534Ala)
c.4526G>C (p.Gly1509Ala)
c.4424G>C (p.Gly1475Ala)
c.4055G>C (p.Gly1352Ala)
 dbSNP gnomAD v4
5g.112840498G=CA1573472438APCc.4958G= (p.Gly1653=)
c.*4910G= (n.*4910G=)
c.4850G= (p.Gly1617=)
c.4904G= (p.Gly1635=)
c.*4226G= (n.*4226G=)
c.230+11526G=
c.4934G= (p.Gly1645=)
c.4829G= (p.Gly1610=)
c.4820G= (p.Gly1607=)
c.4781G= (p.Gly1594=)
c.4727G= (p.Gly1576=)
c.4631G= (p.Gly1544=)
c.4601G= (p.Gly1534=)
c.4526G= (p.Gly1509=)
c.4424G= (p.Gly1475=)
c.4055G= (p.Gly1352=)
5g.112840498G>TCA16032077APCc.4958G>T (p.Gly1653Val)
c.*4910G>T (n.*4910G>T)
c.4850G>T (p.Gly1617Val)
c.4904G>T (p.Gly1635Val)
c.*4226G>T (n.*4226G>T)
c.230+11526G>T
c.4934G>T (p.Gly1645Val)
c.4829G>T (p.Gly1610Val)
c.4820G>T (p.Gly1607Val)
c.4781G>T (p.Gly1594Val)
c.4727G>T (p.Gly1576Val)
c.4631G>T (p.Gly1544Val)
c.4601G>T (p.Gly1534Val)
c.4526G>T (p.Gly1509Val)
c.4424G>T (p.Gly1475Val)
c.4055G>T (p.Gly1352Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840499G>ACA009791APCc.4959G>A (p.Gly1653=)
c.*4911G>A (n.*4911G>A)
c.4851G>A (p.Gly1617=)
c.4905G>A (p.Gly1635=)
c.*4227G>A (n.*4227G>A)
c.230+11527G>A
c.4935G>A (p.Gly1645=)
c.4830G>A (p.Gly1610=)
c.4821G>A (p.Gly1607=)
c.4782G>A (p.Gly1594=)
c.4728G>A (p.Gly1576=)
c.4632G>A (p.Gly1544=)
c.4602G>A (p.Gly1534=)
c.4527G>A (p.Gly1509=)
c.4425G>A (p.Gly1475=)
c.4056G>A (p.Gly1352=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840499G>CCA446208685APCc.4959G>C (p.Gly1653=)
c.*4911G>C (n.*4911G>C)
c.4851G>C (p.Gly1617=)
c.4905G>C (p.Gly1635=)
c.*4227G>C (n.*4227G>C)
c.230+11527G>C
c.4935G>C (p.Gly1645=)
c.4830G>C (p.Gly1610=)
c.4821G>C (p.Gly1607=)
c.4782G>C (p.Gly1594=)
c.4728G>C (p.Gly1576=)
c.4632G>C (p.Gly1544=)
c.4602G>C (p.Gly1534=)
c.4527G>C (p.Gly1509=)
c.4425G>C (p.Gly1475=)
c.4056G>C (p.Gly1352=)
 dbSNP
5g.112840499G=CA1573472444APCc.4959G= (p.Gly1653=)
c.*4911G= (n.*4911G=)
c.4851G= (p.Gly1617=)
c.4905G= (p.Gly1635=)
c.*4227G= (n.*4227G=)
c.230+11527G=
c.4935G= (p.Gly1645=)
c.4830G= (p.Gly1610=)
c.4821G= (p.Gly1607=)
c.4782G= (p.Gly1594=)
c.4728G= (p.Gly1576=)
c.4632G= (p.Gly1544=)
c.4602G= (p.Gly1534=)
c.4527G= (p.Gly1509=)
c.4425G= (p.Gly1475=)
c.4056G= (p.Gly1352=)
5g.112840499G>TCA446208686APCc.4959G>T (p.Gly1653=)
c.*4911G>T (n.*4911G>T)
c.4851G>T (p.Gly1617=)
c.4905G>T (p.Gly1635=)
c.*4227G>T (n.*4227G>T)
c.230+11527G>T
c.4935G>T (p.Gly1645=)
c.4830G>T (p.Gly1610=)
c.4821G>T (p.Gly1607=)
c.4782G>T (p.Gly1594=)
c.4728G>T (p.Gly1576=)
c.4632G>T (p.Gly1544=)
c.4602G>T (p.Gly1534=)
c.4527G>T (p.Gly1509=)
c.4425G>T (p.Gly1475=)
c.4056G>T (p.Gly1352=)
 ClinVar dbSNP
5g.112840500G>ACA040165APCc.4960G>A (p.Asp1654Asn)
c.*4912G>A (n.*4912G>A)
c.4852G>A (p.Asp1618Asn)
c.4906G>A (p.Asp1636Asn)
c.*4228G>A (n.*4228G>A)
c.230+11528G>A
c.4936G>A (p.Asp1646Asn)
c.4831G>A (p.Asp1611Asn)
c.4822G>A (p.Asp1608Asn)
c.4783G>A (p.Asp1595Asn)
c.4729G>A (p.Asp1577Asn)
c.4633G>A (p.Asp1545Asn)
c.4603G>A (p.Asp1535Asn)
c.4528G>A (p.Asp1510Asn)
c.4426G>A (p.Asp1476Asn)
c.4057G>A (p.Asp1353Asn)
 dbSNP ExAC gnomAD v2
5g.112840500G>CCA16032078APCc.4960G>C (p.Asp1654His)
c.*4912G>C (n.*4912G>C)
c.4852G>C (p.Asp1618His)
c.4906G>C (p.Asp1636His)
c.*4228G>C (n.*4228G>C)
c.230+11528G>C
c.4936G>C (p.Asp1646His)
c.4831G>C (p.Asp1611His)
c.4822G>C (p.Asp1608His)
c.4783G>C (p.Asp1595His)
c.4729G>C (p.Asp1577His)
c.4633G>C (p.Asp1545His)
c.4603G>C (p.Asp1535His)
c.4528G>C (p.Asp1510His)
c.4426G>C (p.Asp1476His)
c.4057G>C (p.Asp1353His)
 dbSNP
5g.112840500G=CA1573472451APCc.4960G= (p.Asp1654=)
c.*4912G= (n.*4912G=)
c.4852G= (p.Asp1618=)
c.4906G= (p.Asp1636=)
c.*4228G= (n.*4228G=)
c.230+11528G=
c.4936G= (p.Asp1646=)
c.4831G= (p.Asp1611=)
c.4822G= (p.Asp1608=)
c.4783G= (p.Asp1595=)
c.4729G= (p.Asp1577=)
c.4633G= (p.Asp1545=)
c.4603G= (p.Asp1535=)
c.4528G= (p.Asp1510=)
c.4426G= (p.Asp1476=)
c.4057G= (p.Asp1353=)
5g.112840500G>TCA009798APCc.4960G>T (p.Asp1654Tyr)
c.*4912G>T (n.*4912G>T)
c.4852G>T (p.Asp1618Tyr)
c.4906G>T (p.Asp1636Tyr)
c.*4228G>T (n.*4228G>T)
c.230+11528G>T
c.4936G>T (p.Asp1646Tyr)
c.4831G>T (p.Asp1611Tyr)
c.4822G>T (p.Asp1608Tyr)
c.4783G>T (p.Asp1595Tyr)
c.4729G>T (p.Asp1577Tyr)
c.4633G>T (p.Asp1545Tyr)
c.4603G>T (p.Asp1535Tyr)
c.4528G>T (p.Asp1510Tyr)
c.4426G>T (p.Asp1476Tyr)
c.4057G>T (p.Asp1353Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840501delCA2695205308APCc.4961del (p.Asp1654ValfsTer14)
c.*4913del (n.*4913del)
c.4853del (p.Asp1618ValfsTer14)
c.4907del (p.Asp1636ValfsTer14)
c.*4229del (n.*4229del)
c.230+11529del
c.4937del (p.Asp1646ValfsTer14)
c.4832del (p.Asp1611ValfsTer14)
c.4823del (p.Asp1608ValfsTer14)
c.4784del (p.Asp1595ValfsTer14)
c.4730del (p.Asp1577ValfsTer14)
c.4634del (p.Asp1545ValfsTer14)
c.4604del (p.Asp1535ValfsTer14)
c.4529del (p.Asp1510ValfsTer14)
c.4427del (p.Asp1476ValfsTer14)
c.4058del (p.Asp1353ValfsTer14)
5g.112840501A>CCA16032079APCc.4961A>C (p.Asp1654Ala)
c.*4913A>C (n.*4913A>C)
c.4853A>C (p.Asp1618Ala)
c.4907A>C (p.Asp1636Ala)
c.*4229A>C (n.*4229A>C)
c.230+11529A>C
c.4937A>C (p.Asp1646Ala)
c.4832A>C (p.Asp1611Ala)
c.4823A>C (p.Asp1608Ala)
c.4784A>C (p.Asp1595Ala)
c.4730A>C (p.Asp1577Ala)
c.4634A>C (p.Asp1545Ala)
c.4604A>C (p.Asp1535Ala)
c.4529A>C (p.Asp1510Ala)
c.4427A>C (p.Asp1476Ala)
c.4058A>C (p.Asp1353Ala)
 dbSNP
5g.112840501A>GCA16032080APCc.4961A>G (p.Asp1654Gly)
c.*4913A>G (n.*4913A>G)
c.4853A>G (p.Asp1618Gly)
c.4907A>G (p.Asp1636Gly)
c.*4229A>G (n.*4229A>G)
c.230+11529A>G
c.4937A>G (p.Asp1646Gly)
c.4832A>G (p.Asp1611Gly)
c.4823A>G (p.Asp1608Gly)
c.4784A>G (p.Asp1595Gly)
c.4730A>G (p.Asp1577Gly)
c.4634A>G (p.Asp1545Gly)
c.4604A>G (p.Asp1535Gly)
c.4529A>G (p.Asp1510Gly)
c.4427A>G (p.Asp1476Gly)
c.4058A>G (p.Asp1353Gly)
 ClinVar dbSNP
5g.112840501A>TCA16032081APCc.4961A>T (p.Asp1654Val)
c.*4913A>T (n.*4913A>T)
c.4853A>T (p.Asp1618Val)
c.4907A>T (p.Asp1636Val)
c.*4229A>T (n.*4229A>T)
c.230+11529A>T
c.4937A>T (p.Asp1646Val)
c.4832A>T (p.Asp1611Val)
c.4823A>T (p.Asp1608Val)
c.4784A>T (p.Asp1595Val)
c.4730A>T (p.Asp1577Val)
c.4634A>T (p.Asp1545Val)
c.4604A>T (p.Asp1535Val)
c.4529A>T (p.Asp1510Val)
c.4427A>T (p.Asp1476Val)
c.4058A>T (p.Asp1353Val)
 ClinVar dbSNP
5g.112840501dupCA2582341394APCc.4961dup (p.Asp1654GlufsTer2)
c.*4913dup (n.*4913dup)
c.4853dup (p.Asp1618GlufsTer2)
c.4907dup (p.Asp1636GlufsTer2)
c.*4229dup (n.*4229dup)
c.230+11529dup
c.4937dup (p.Asp1646GlufsTer2)
c.4832dup (p.Asp1611GlufsTer2)
c.4823dup (p.Asp1608GlufsTer2)
c.4784dup (p.Asp1595GlufsTer2)
c.4730dup (p.Asp1577GlufsTer2)
c.4634dup (p.Asp1545GlufsTer2)
c.4604dup (p.Asp1535GlufsTer2)
c.4529dup (p.Asp1510GlufsTer2)
c.4427dup (p.Asp1476GlufsTer2)
c.4058dup (p.Asp1353GlufsTer2)
 ClinVar
5g.112840502T>ACA16032082APCc.4962T>A (p.Asp1654Glu)
c.*4914T>A (n.*4914T>A)
c.4854T>A (p.Asp1618Glu)
c.4908T>A (p.Asp1636Glu)
c.*4230T>A (n.*4230T>A)
c.230+11530T>A
c.4938T>A (p.Asp1646Glu)
c.4833T>A (p.Asp1611Glu)
c.4824T>A (p.Asp1608Glu)
c.4785T>A (p.Asp1595Glu)
c.4731T>A (p.Asp1577Glu)
c.4635T>A (p.Asp1545Glu)
c.4605T>A (p.Asp1535Glu)
c.4530T>A (p.Asp1510Glu)
c.4428T>A (p.Asp1476Glu)
c.4059T>A (p.Asp1353Glu)
 dbSNP
5g.112840502T>CCA446208687APCc.4962T>C (p.Asp1654=)
c.*4914T>C (n.*4914T>C)
c.4854T>C (p.Asp1618=)
c.4908T>C (p.Asp1636=)
c.*4230T>C (n.*4230T>C)
c.230+11530T>C
c.4938T>C (p.Asp1646=)
c.4833T>C (p.Asp1611=)
c.4824T>C (p.Asp1608=)
c.4785T>C (p.Asp1595=)
c.4731T>C (p.Asp1577=)
c.4635T>C (p.Asp1545=)
c.4605T>C (p.Asp1535=)
c.4530T>C (p.Asp1510=)
c.4428T>C (p.Asp1476=)
c.4059T>C (p.Asp1353=)
 ClinVar dbSNP gnomAD v4
5g.112840502T>GCA16032083APCc.4962T>G (p.Asp1654Glu)
c.*4914T>G (n.*4914T>G)
c.4854T>G (p.Asp1618Glu)
c.4908T>G (p.Asp1636Glu)
c.*4230T>G (n.*4230T>G)
c.230+11530T>G
c.4938T>G (p.Asp1646Glu)
c.4833T>G (p.Asp1611Glu)
c.4824T>G (p.Asp1608Glu)
c.4785T>G (p.Asp1595Glu)
c.4731T>G (p.Asp1577Glu)
c.4635T>G (p.Asp1545Glu)
c.4605T>G (p.Asp1535Glu)
c.4530T>G (p.Asp1510Glu)
c.4428T>G (p.Asp1476Glu)
c.4059T>G (p.Asp1353Glu)
 dbSNP
5g.112840502T=CA1573472456APCc.4962T= (p.Asp1654=)
c.*4914T= (n.*4914T=)
c.4854T= (p.Asp1618=)
c.4908T= (p.Asp1636=)
c.*4230T= (n.*4230T=)
c.230+11530T=
c.4938T= (p.Asp1646=)
c.4833T= (p.Asp1611=)
c.4824T= (p.Asp1608=)
c.4785T= (p.Asp1595=)
c.4731T= (p.Asp1577=)
c.4635T= (p.Asp1545=)
c.4605T= (p.Asp1535=)
c.4530T= (p.Asp1510=)
c.4428T= (p.Asp1476=)
c.4059T= (p.Asp1353=)
5g.112840502_112840514delCA2582341395APCc.4962_4974del (p.Asp1654GlufsTer10)
c.*4914_*4926del (n.*4914_*4926del)
c.4854_4866del (p.Asp1618GlufsTer10)
c.4908_4920del (p.Asp1636GlufsTer10)
c.*4230_*4242del (n.*4230_*4242del)
c.230+11530_230+11542del
c.4938_4950del (p.Asp1646GlufsTer10)
c.4833_4845del (p.Asp1611GlufsTer10)
c.4824_4836del (p.Asp1608GlufsTer10)
c.4785_4797del (p.Asp1595GlufsTer10)
c.4731_4743del (p.Asp1577GlufsTer10)
c.4635_4647del (p.Asp1545GlufsTer10)
c.4605_4617del (p.Asp1535GlufsTer10)
c.4530_4542del (p.Asp1510GlufsTer10)
c.4428_4440del (p.Asp1476GlufsTer10)
c.4059_4071del (p.Asp1353GlufsTer10)
 ClinVar
5g.112840503G>ACA16032084APCc.4963G>A (p.Asp1655Asn)
c.*4915G>A (n.*4915G>A)
c.4855G>A (p.Asp1619Asn)
c.4909G>A (p.Asp1637Asn)
c.*4231G>A (n.*4231G>A)
c.230+11531G>A
c.4939G>A (p.Asp1647Asn)
c.4834G>A (p.Asp1612Asn)
c.4825G>A (p.Asp1609Asn)
c.4786G>A (p.Asp1596Asn)
c.4732G>A (p.Asp1578Asn)
c.4636G>A (p.Asp1546Asn)
c.4606G>A (p.Asp1536Asn)
c.4531G>A (p.Asp1511Asn)
c.4429G>A (p.Asp1477Asn)
c.4060G>A (p.Asp1354Asn)
 ClinVar dbSNP
5g.112840503G>CCA16032085APCc.4963G>C (p.Asp1655His)
c.*4915G>C (n.*4915G>C)
c.4855G>C (p.Asp1619His)
c.4909G>C (p.Asp1637His)
c.*4231G>C (n.*4231G>C)
c.230+11531G>C
c.4939G>C (p.Asp1647His)
c.4834G>C (p.Asp1612His)
c.4825G>C (p.Asp1609His)
c.4786G>C (p.Asp1596His)
c.4732G>C (p.Asp1578His)
c.4636G>C (p.Asp1546His)
c.4606G>C (p.Asp1536His)
c.4531G>C (p.Asp1511His)
c.4429G>C (p.Asp1477His)
c.4060G>C (p.Asp1354His)
 ClinVar dbSNP
5g.112840503G=CA1573472468APCc.4963G= (p.Asp1655=)
c.*4915G= (n.*4915G=)
c.4855G= (p.Asp1619=)
c.4909G= (p.Asp1637=)
c.*4231G= (n.*4231G=)
c.230+11531G=
c.4939G= (p.Asp1647=)
c.4834G= (p.Asp1612=)
c.4825G= (p.Asp1609=)
c.4786G= (p.Asp1596=)
c.4732G= (p.Asp1578=)
c.4636G= (p.Asp1546=)
c.4606G= (p.Asp1536=)
c.4531G= (p.Asp1511=)
c.4429G= (p.Asp1477=)
c.4060G= (p.Asp1354=)
5g.112840503G>TCA16032086APCc.4963G>T (p.Asp1655Tyr)
c.*4915G>T (n.*4915G>T)
c.4855G>T (p.Asp1619Tyr)
c.4909G>T (p.Asp1637Tyr)
c.*4231G>T (n.*4231G>T)
c.230+11531G>T
c.4939G>T (p.Asp1647Tyr)
c.4834G>T (p.Asp1612Tyr)
c.4825G>T (p.Asp1609Tyr)
c.4786G>T (p.Asp1596Tyr)
c.4732G>T (p.Asp1578Tyr)
c.4636G>T (p.Asp1546Tyr)
c.4606G>T (p.Asp1536Tyr)
c.4531G>T (p.Asp1511Tyr)
c.4429G>T (p.Asp1477Tyr)
c.4060G>T (p.Asp1354Tyr)
 ClinVar dbSNP COSMIC
5g.112840504A>CCA16032087APCc.4964A>C (p.Asp1655Ala)
c.*4916A>C (n.*4916A>C)
c.4856A>C (p.Asp1619Ala)
c.4910A>C (p.Asp1637Ala)
c.*4232A>C (n.*4232A>C)
c.230+11532A>C
c.4940A>C (p.Asp1647Ala)
c.4835A>C (p.Asp1612Ala)
c.4826A>C (p.Asp1609Ala)
c.4787A>C (p.Asp1596Ala)
c.4733A>C (p.Asp1578Ala)
c.4637A>C (p.Asp1546Ala)
c.4607A>C (p.Asp1536Ala)
c.4532A>C (p.Asp1511Ala)
c.4430A>C (p.Asp1477Ala)
c.4061A>C (p.Asp1354Ala)
5g.112840504A>GCA16032088APCc.4964A>G (p.Asp1655Gly)
c.*4916A>G (n.*4916A>G)
c.4856A>G (p.Asp1619Gly)
c.4910A>G (p.Asp1637Gly)
c.*4232A>G (n.*4232A>G)
c.230+11532A>G
c.4940A>G (p.Asp1647Gly)
c.4835A>G (p.Asp1612Gly)
c.4826A>G (p.Asp1609Gly)
c.4787A>G (p.Asp1596Gly)
c.4733A>G (p.Asp1578Gly)
c.4637A>G (p.Asp1546Gly)
c.4607A>G (p.Asp1536Gly)
c.4532A>G (p.Asp1511Gly)
c.4430A>G (p.Asp1477Gly)
c.4061A>G (p.Asp1354Gly)
 ClinVar gnomAD v4
5g.112840504A>TCA16032089APCc.4964A>T (p.Asp1655Val)
c.*4916A>T (n.*4916A>T)
c.4856A>T (p.Asp1619Val)
c.4910A>T (p.Asp1637Val)
c.*4232A>T (n.*4232A>T)
c.230+11532A>T
c.4940A>T (p.Asp1647Val)
c.4835A>T (p.Asp1612Val)
c.4826A>T (p.Asp1609Val)
c.4787A>T (p.Asp1596Val)
c.4733A>T (p.Asp1578Val)
c.4637A>T (p.Asp1546Val)
c.4607A>T (p.Asp1536Val)
c.4532A>T (p.Asp1511Val)
c.4430A>T (p.Asp1477Val)
c.4061A>T (p.Asp1354Val)
 gnomAD v4
5g.112840505T>ACA16032090APCc.4965T>A (p.Asp1655Glu)
c.*4917T>A (n.*4917T>A)
c.4857T>A (p.Asp1619Glu)
c.4911T>A (p.Asp1637Glu)
c.*4233T>A (n.*4233T>A)
c.230+11533T>A
c.4941T>A (p.Asp1647Glu)
c.4836T>A (p.Asp1612Glu)
c.4827T>A (p.Asp1609Glu)
c.4788T>A (p.Asp1596Glu)
c.4734T>A (p.Asp1578Glu)
c.4638T>A (p.Asp1546Glu)
c.4608T>A (p.Asp1536Glu)
c.4533T>A (p.Asp1511Glu)
c.4431T>A (p.Asp1477Glu)
c.4062T>A (p.Asp1354Glu)
 dbSNP
5g.112840505T>CCA446208688APCc.4965T>C (p.Asp1655=)
c.*4917T>C (n.*4917T>C)
c.4857T>C (p.Asp1619=)
c.4911T>C (p.Asp1637=)
c.*4233T>C (n.*4233T>C)
c.230+11533T>C
c.4941T>C (p.Asp1647=)
c.4836T>C (p.Asp1612=)
c.4827T>C (p.Asp1609=)
c.4788T>C (p.Asp1596=)
c.4734T>C (p.Asp1578=)
c.4638T>C (p.Asp1546=)
c.4608T>C (p.Asp1536=)
c.4533T>C (p.Asp1511=)
c.4431T>C (p.Asp1477=)
c.4062T>C (p.Asp1354=)
 dbSNP
5g.112840505T>GCA16032091APCc.4965T>G (p.Asp1655Glu)
c.*4917T>G (n.*4917T>G)
c.4857T>G (p.Asp1619Glu)
c.4911T>G (p.Asp1637Glu)
c.*4233T>G (n.*4233T>G)
c.230+11533T>G
c.4941T>G (p.Asp1647Glu)
c.4836T>G (p.Asp1612Glu)
c.4827T>G (p.Asp1609Glu)
c.4788T>G (p.Asp1596Glu)
c.4734T>G (p.Asp1578Glu)
c.4638T>G (p.Asp1546Glu)
c.4608T>G (p.Asp1536Glu)
c.4533T>G (p.Asp1511Glu)
c.4431T>G (p.Asp1477Glu)
c.4062T>G (p.Asp1354Glu)
 dbSNP
5g.112840506A=CA1573472473APCc.4966A= (p.Met1656=)
c.*4918A= (n.*4918A=)
c.4858A= (p.Met1620=)
c.4912A= (p.Met1638=)
c.*4234A= (n.*4234A=)
c.230+11534A=
c.4942A= (p.Met1648=)
c.4837A= (p.Met1613=)
c.4828A= (p.Met1610=)
c.4789A= (p.Met1597=)
c.4735A= (p.Met1579=)
c.4639A= (p.Met1547=)
c.4609A= (p.Met1537=)
c.4534A= (p.Met1512=)
c.4432A= (p.Met1478=)
c.4063A= (p.Met1355=)
5g.112840506A>CCA16032092APCc.4966A>C (p.Met1656Leu)
c.*4918A>C (n.*4918A>C)
c.4858A>C (p.Met1620Leu)
c.4912A>C (p.Met1638Leu)
c.*4234A>C (n.*4234A>C)
c.230+11534A>C
c.4942A>C (p.Met1648Leu)
c.4837A>C (p.Met1613Leu)
c.4828A>C (p.Met1610Leu)
c.4789A>C (p.Met1597Leu)
c.4735A>C (p.Met1579Leu)
c.4639A>C (p.Met1547Leu)
c.4609A>C (p.Met1537Leu)
c.4534A>C (p.Met1512Leu)
c.4432A>C (p.Met1478Leu)
c.4063A>C (p.Met1355Leu)
5g.112840506A>GCA16032093APCc.4966A>G (p.Met1656Val)
c.*4918A>G (n.*4918A>G)
c.4858A>G (p.Met1620Val)
c.4912A>G (p.Met1638Val)
c.*4234A>G (n.*4234A>G)
c.230+11534A>G
c.4942A>G (p.Met1648Val)
c.4837A>G (p.Met1613Val)
c.4828A>G (p.Met1610Val)
c.4789A>G (p.Met1597Val)
c.4735A>G (p.Met1579Val)
c.4639A>G (p.Met1547Val)
c.4609A>G (p.Met1537Val)
c.4534A>G (p.Met1512Val)
c.4432A>G (p.Met1478Val)
c.4063A>G (p.Met1355Val)
 ClinVar dbSNP
5g.112840506A>TCA16032094APCc.4966A>T (p.Met1656Leu)
c.*4918A>T (n.*4918A>T)
c.4858A>T (p.Met1620Leu)
c.4912A>T (p.Met1638Leu)
c.*4234A>T (n.*4234A>T)
c.230+11534A>T
c.4942A>T (p.Met1648Leu)
c.4837A>T (p.Met1613Leu)
c.4828A>T (p.Met1610Leu)
c.4789A>T (p.Met1597Leu)
c.4735A>T (p.Met1579Leu)
c.4639A>T (p.Met1547Leu)
c.4609A>T (p.Met1537Leu)
c.4534A>T (p.Met1512Leu)
c.4432A>T (p.Met1478Leu)
c.4063A>T (p.Met1355Leu)
 gnomAD v4
5g.112840506dupCA2499217491APCc.4966dup (p.Met1656AsnfsTer8)
c.*4918dup (n.*4918dup)
c.4858dup (p.Met1620AsnfsTer8)
c.4912dup (p.Met1638AsnfsTer8)
c.*4234dup (n.*4234dup)
c.230+11534dup
c.4942dup (p.Met1648AsnfsTer8)
c.4837dup (p.Met1613AsnfsTer8)
c.4828dup (p.Met1610AsnfsTer8)
c.4789dup (p.Met1597AsnfsTer8)
c.4735dup (p.Met1579AsnfsTer8)
c.4639dup (p.Met1547AsnfsTer8)
c.4609dup (p.Met1537AsnfsTer8)
c.4534dup (p.Met1512AsnfsTer8)
c.4432dup (p.Met1478AsnfsTer8)
c.4063dup (p.Met1355AsnfsTer8)
 ClinVar dbSNP
5g.112840507T>ACA16032095APCc.4967T>A (p.Met1656Lys)
c.*4919T>A (n.*4919T>A)
c.4859T>A (p.Met1620Lys)
c.4913T>A (p.Met1638Lys)
c.*4235T>A (n.*4235T>A)
c.230+11535T>A
c.4943T>A (p.Met1648Lys)
c.4838T>A (p.Met1613Lys)
c.4829T>A (p.Met1610Lys)
c.4790T>A (p.Met1597Lys)
c.4736T>A (p.Met1579Lys)
c.4640T>A (p.Met1547Lys)
c.4610T>A (p.Met1537Lys)
c.4535T>A (p.Met1512Lys)
c.4433T>A (p.Met1478Lys)
c.4064T>A (p.Met1355Lys)
 dbSNP
5g.112840507T>CCA040178APCc.4967T>C (p.Met1656Thr)
c.*4919T>C (n.*4919T>C)
c.4859T>C (p.Met1620Thr)
c.4913T>C (p.Met1638Thr)
c.*4235T>C (n.*4235T>C)
c.230+11535T>C
c.4943T>C (p.Met1648Thr)
c.4838T>C (p.Met1613Thr)
c.4829T>C (p.Met1610Thr)
c.4790T>C (p.Met1597Thr)
c.4736T>C (p.Met1579Thr)
c.4640T>C (p.Met1547Thr)
c.4610T>C (p.Met1537Thr)
c.4535T>C (p.Met1512Thr)
c.4433T>C (p.Met1478Thr)
c.4064T>C (p.Met1355Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840507T>GCA16032096APCc.4967T>G (p.Met1656Arg)
c.*4919T>G (n.*4919T>G)
c.4859T>G (p.Met1620Arg)
c.4913T>G (p.Met1638Arg)
c.*4235T>G (n.*4235T>G)
c.230+11535T>G
c.4943T>G (p.Met1648Arg)
c.4838T>G (p.Met1613Arg)
c.4829T>G (p.Met1610Arg)
c.4790T>G (p.Met1597Arg)
c.4736T>G (p.Met1579Arg)
c.4640T>G (p.Met1547Arg)
c.4610T>G (p.Met1537Arg)
c.4535T>G (p.Met1512Arg)
c.4433T>G (p.Met1478Arg)
c.4064T>G (p.Met1355Arg)
 dbSNP
5g.112840507T=CA1573472483APCc.4967T= (p.Met1656=)
c.*4919T= (n.*4919T=)
c.4859T= (p.Met1620=)
c.4913T= (p.Met1638=)
c.*4235T= (n.*4235T=)
c.230+11535T=
c.4943T= (p.Met1648=)
c.4838T= (p.Met1613=)
c.4829T= (p.Met1610=)
c.4790T= (p.Met1597=)
c.4736T= (p.Met1579=)
c.4640T= (p.Met1547=)
c.4610T= (p.Met1537=)
c.4535T= (p.Met1512=)
c.4433T= (p.Met1478=)
c.4064T= (p.Met1355=)
5g.112840507dupCA2580610723APCc.4967dup (p.Met1656IlefsTer8)
c.*4919dup (n.*4919dup)
c.4859dup (p.Met1620IlefsTer8)
c.4913dup (p.Met1638IlefsTer8)
c.*4235dup (n.*4235dup)
c.230+11535dup
c.4943dup (p.Met1648IlefsTer8)
c.4838dup (p.Met1613IlefsTer8)
c.4829dup (p.Met1610IlefsTer8)
c.4790dup (p.Met1597IlefsTer8)
c.4736dup (p.Met1579IlefsTer8)
c.4640dup (p.Met1547IlefsTer8)
c.4610dup (p.Met1537IlefsTer8)
c.4535dup (p.Met1512IlefsTer8)
c.4433dup (p.Met1478IlefsTer8)
c.4064dup (p.Met1355IlefsTer8)
 ClinVar
5g.112840508G>ACA16032097APCc.4968G>A (p.Met1656Ile)
c.*4920G>A (n.*4920G>A)
c.4860G>A (p.Met1620Ile)
c.4914G>A (p.Met1638Ile)
c.*4236G>A (n.*4236G>A)
c.230+11536G>A
c.4944G>A (p.Met1648Ile)
c.4839G>A (p.Met1613Ile)
c.4830G>A (p.Met1610Ile)
c.4791G>A (p.Met1597Ile)
c.4737G>A (p.Met1579Ile)
c.4641G>A (p.Met1547Ile)
c.4611G>A (p.Met1537Ile)
c.4536G>A (p.Met1512Ile)
c.4434G>A (p.Met1478Ile)
c.4065G>A (p.Met1355Ile)
 ClinVar dbSNP gnomAD v4
5g.112840508G>CCA16032098APCc.4968G>C (p.Met1656Ile)
c.*4920G>C (n.*4920G>C)
c.4860G>C (p.Met1620Ile)
c.4914G>C (p.Met1638Ile)
c.*4236G>C (n.*4236G>C)
c.230+11536G>C
c.4944G>C (p.Met1648Ile)
c.4839G>C (p.Met1613Ile)
c.4830G>C (p.Met1610Ile)
c.4791G>C (p.Met1597Ile)
c.4737G>C (p.Met1579Ile)
c.4641G>C (p.Met1547Ile)
c.4611G>C (p.Met1537Ile)
c.4536G>C (p.Met1512Ile)
c.4434G>C (p.Met1478Ile)
c.4065G>C (p.Met1355Ile)
 dbSNP
5g.112840508G>TCA16032099APCc.4968G>T (p.Met1656Ile)
c.*4920G>T (n.*4920G>T)
c.4860G>T (p.Met1620Ile)
c.4914G>T (p.Met1638Ile)
c.*4236G>T (n.*4236G>T)
c.230+11536G>T
c.4944G>T (p.Met1648Ile)
c.4839G>T (p.Met1613Ile)
c.4830G>T (p.Met1610Ile)
c.4791G>T (p.Met1597Ile)
c.4737G>T (p.Met1579Ile)
c.4641G>T (p.Met1547Ile)
c.4611G>T (p.Met1537Ile)
c.4536G>T (p.Met1512Ile)
c.4434G>T (p.Met1478Ile)
c.4065G>T (p.Met1355Ile)
5g.112840509C>ACA16032100APCc.4969C>A (p.Pro1657Thr)
c.*4921C>A (n.*4921C>A)
c.4861C>A (p.Pro1621Thr)
c.4915C>A (p.Pro1639Thr)
c.*4237C>A (n.*4237C>A)
c.230+11537C>A
c.4945C>A (p.Pro1649Thr)
c.4840C>A (p.Pro1614Thr)
c.4831C>A (p.Pro1611Thr)
c.4792C>A (p.Pro1598Thr)
c.4738C>A (p.Pro1580Thr)
c.4642C>A (p.Pro1548Thr)
c.4612C>A (p.Pro1538Thr)
c.4537C>A (p.Pro1513Thr)
c.4435C>A (p.Pro1479Thr)
c.4066C>A (p.Pro1356Thr)
 dbSNP
5g.112840509C>GCA16032101APCc.4969C>G (p.Pro1657Ala)
c.*4921C>G (n.*4921C>G)
c.4861C>G (p.Pro1621Ala)
c.4915C>G (p.Pro1639Ala)
c.*4237C>G (n.*4237C>G)
c.230+11537C>G
c.4945C>G (p.Pro1649Ala)
c.4840C>G (p.Pro1614Ala)
c.4831C>G (p.Pro1611Ala)
c.4792C>G (p.Pro1598Ala)
c.4738C>G (p.Pro1580Ala)
c.4642C>G (p.Pro1548Ala)
c.4612C>G (p.Pro1538Ala)
c.4537C>G (p.Pro1513Ala)
c.4435C>G (p.Pro1479Ala)
c.4066C>G (p.Pro1356Ala)
 dbSNP
5g.112840509C>TCA16032102APCc.4969C>T (p.Pro1657Ser)
c.*4921C>T (n.*4921C>T)
c.4861C>T (p.Pro1621Ser)
c.4915C>T (p.Pro1639Ser)
c.*4237C>T (n.*4237C>T)
c.230+11537C>T
c.4945C>T (p.Pro1649Ser)
c.4840C>T (p.Pro1614Ser)
c.4831C>T (p.Pro1611Ser)
c.4792C>T (p.Pro1598Ser)
c.4738C>T (p.Pro1580Ser)
c.4642C>T (p.Pro1548Ser)
c.4612C>T (p.Pro1538Ser)
c.4537C>T (p.Pro1513Ser)
c.4435C>T (p.Pro1479Ser)
c.4066C>T (p.Pro1356Ser)
 ClinVar dbSNP gnomAD v4
5g.112840510C>ACA16032103APCc.4970C>A (p.Pro1657Gln)
c.*4922C>A (n.*4922C>A)
c.4862C>A (p.Pro1621Gln)
c.4916C>A (p.Pro1639Gln)
c.*4238C>A (n.*4238C>A)
c.230+11538C>A
c.4946C>A (p.Pro1649Gln)
c.4841C>A (p.Pro1614Gln)
c.4832C>A (p.Pro1611Gln)
c.4793C>A (p.Pro1598Gln)
c.4739C>A (p.Pro1580Gln)
c.4643C>A (p.Pro1548Gln)
c.4613C>A (p.Pro1538Gln)
c.4538C>A (p.Pro1513Gln)
c.4436C>A (p.Pro1479Gln)
c.4067C>A (p.Pro1356Gln)
 dbSNP
5g.112840510C>GCA16032104APCc.4970C>G (p.Pro1657Arg)
c.*4922C>G (n.*4922C>G)
c.4862C>G (p.Pro1621Arg)
c.4916C>G (p.Pro1639Arg)
c.*4238C>G (n.*4238C>G)
c.230+11538C>G
c.4946C>G (p.Pro1649Arg)
c.4841C>G (p.Pro1614Arg)
c.4832C>G (p.Pro1611Arg)
c.4793C>G (p.Pro1598Arg)
c.4739C>G (p.Pro1580Arg)
c.4643C>G (p.Pro1548Arg)
c.4613C>G (p.Pro1538Arg)
c.4538C>G (p.Pro1513Arg)
c.4436C>G (p.Pro1479Arg)
c.4067C>G (p.Pro1356Arg)
 dbSNP
5g.112840510C>TCA16032105APCc.4970C>T (p.Pro1657Leu)
c.*4922C>T (n.*4922C>T)
c.4862C>T (p.Pro1621Leu)
c.4916C>T (p.Pro1639Leu)
c.*4238C>T (n.*4238C>T)
c.230+11538C>T
c.4946C>T (p.Pro1649Leu)
c.4841C>T (p.Pro1614Leu)
c.4832C>T (p.Pro1611Leu)
c.4793C>T (p.Pro1598Leu)
c.4739C>T (p.Pro1580Leu)
c.4643C>T (p.Pro1548Leu)
c.4613C>T (p.Pro1538Leu)
c.4538C>T (p.Pro1513Leu)
c.4436C>T (p.Pro1479Leu)
c.4067C>T (p.Pro1356Leu)
 dbSNP
5g.112840511A=CA1573472486APCc.4971A= (p.Pro1657=)
c.*4923A= (n.*4923A=)
c.4863A= (p.Pro1621=)
c.4917A= (p.Pro1639=)
c.*4239A= (n.*4239A=)
c.230+11539A=
c.4947A= (p.Pro1649=)
c.4842A= (p.Pro1614=)
c.4833A= (p.Pro1611=)
c.4794A= (p.Pro1598=)
c.4740A= (p.Pro1580=)
c.4644A= (p.Pro1548=)
c.4614A= (p.Pro1538=)
c.4539A= (p.Pro1513=)
c.4437A= (p.Pro1479=)
c.4068A= (p.Pro1356=)
5g.112840511A>CCA446208689APCc.4971A>C (p.Pro1657=)
c.*4923A>C (n.*4923A>C)
c.4863A>C (p.Pro1621=)
c.4917A>C (p.Pro1639=)
c.*4239A>C (n.*4239A>C)
c.230+11539A>C
c.4947A>C (p.Pro1649=)
c.4842A>C (p.Pro1614=)
c.4833A>C (p.Pro1611=)
c.4794A>C (p.Pro1598=)
c.4740A>C (p.Pro1580=)
c.4644A>C (p.Pro1548=)
c.4614A>C (p.Pro1538=)
c.4539A>C (p.Pro1513=)
c.4437A>C (p.Pro1479=)
c.4068A>C (p.Pro1356=)
 dbSNP
5g.112840511A>GCA446208690APCc.4971A>G (p.Pro1657=)
c.*4923A>G (n.*4923A>G)
c.4863A>G (p.Pro1621=)
c.4917A>G (p.Pro1639=)
c.*4239A>G (n.*4239A>G)
c.230+11539A>G
c.4947A>G (p.Pro1649=)
c.4842A>G (p.Pro1614=)
c.4833A>G (p.Pro1611=)
c.4794A>G (p.Pro1598=)
c.4740A>G (p.Pro1580=)
c.4644A>G (p.Pro1548=)
c.4614A>G (p.Pro1538=)
c.4539A>G (p.Pro1513=)
c.4437A>G (p.Pro1479=)
c.4068A>G (p.Pro1356=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840511A>TCA446208691APCc.4971A>T (p.Pro1657=)
c.*4923A>T (n.*4923A>T)
c.4863A>T (p.Pro1621=)
c.4917A>T (p.Pro1639=)
c.*4239A>T (n.*4239A>T)
c.230+11539A>T
c.4947A>T (p.Pro1649=)
c.4842A>T (p.Pro1614=)
c.4833A>T (p.Pro1611=)
c.4794A>T (p.Pro1598=)
c.4740A>T (p.Pro1580=)
c.4644A>T (p.Pro1548=)
c.4614A>T (p.Pro1538=)
c.4539A>T (p.Pro1513=)
c.4437A>T (p.Pro1479=)
c.4068A>T (p.Pro1356=)
 ClinVar dbSNP
5g.112840512C>ACA446208692APCc.4972C>A (p.Arg1658=)
c.*4924C>A (n.*4924C>A)
c.4864C>A (p.Arg1622=)
c.4918C>A (p.Arg1640=)
c.*4240C>A (n.*4240C>A)
c.230+11540C>A
c.4948C>A (p.Arg1650=)
c.4843C>A (p.Arg1615=)
c.4834C>A (p.Arg1612=)
c.4795C>A (p.Arg1599=)
c.4741C>A (p.Arg1581=)
c.4645C>A (p.Arg1549=)
c.4615C>A (p.Arg1539=)
c.4540C>A (p.Arg1514=)
c.4438C>A (p.Arg1480=)
c.4069C>A (p.Arg1357=)
5g.112840512C=CA1573472493APCc.4972C= (p.Arg1658=)
c.*4924C= (n.*4924C=)
c.4864C= (p.Arg1622=)
c.4918C= (p.Arg1640=)
c.*4240C= (n.*4240C=)
c.230+11540C=
c.4948C= (p.Arg1650=)
c.4843C= (p.Arg1615=)
c.4834C= (p.Arg1612=)
c.4795C= (p.Arg1599=)
c.4741C= (p.Arg1581=)
c.4645C= (p.Arg1549=)
c.4615C= (p.Arg1539=)
c.4540C= (p.Arg1514=)
c.4438C= (p.Arg1480=)
c.4069C= (p.Arg1357=)
5g.112840512C>GCA16032106APCc.4972C>G (p.Arg1658Gly)
c.*4924C>G (n.*4924C>G)
c.4864C>G (p.Arg1622Gly)
c.4918C>G (p.Arg1640Gly)
c.*4240C>G (n.*4240C>G)
c.230+11540C>G
c.4948C>G (p.Arg1650Gly)
c.4843C>G (p.Arg1615Gly)
c.4834C>G (p.Arg1612Gly)
c.4795C>G (p.Arg1599Gly)
c.4741C>G (p.Arg1581Gly)
c.4645C>G (p.Arg1549Gly)
c.4615C>G (p.Arg1539Gly)
c.4540C>G (p.Arg1514Gly)
c.4438C>G (p.Arg1480Gly)
c.4069C>G (p.Arg1357Gly)
 ClinVar dbSNP
5g.112840512C>TCA009806APCc.4972C>T (p.Arg1658Trp)
c.*4924C>T (n.*4924C>T)
c.4864C>T (p.Arg1622Trp)
c.4918C>T (p.Arg1640Trp)
c.*4240C>T (n.*4240C>T)
c.230+11540C>T
c.4948C>T (p.Arg1650Trp)
c.4843C>T (p.Arg1615Trp)
c.4834C>T (p.Arg1612Trp)
c.4795C>T (p.Arg1599Trp)
c.4741C>T (p.Arg1581Trp)
c.4645C>T (p.Arg1549Trp)
c.4615C>T (p.Arg1539Trp)
c.4540C>T (p.Arg1514Trp)
c.4438C>T (p.Arg1480Trp)
c.4069C>T (p.Arg1357Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112840513G>ACA009812APCc.4973G>A (p.Arg1658Gln)
c.*4925G>A (n.*4925G>A)
c.4865G>A (p.Arg1622Gln)
c.4919G>A (p.Arg1640Gln)
c.*4241G>A (n.*4241G>A)
c.230+11541G>A
c.4949G>A (p.Arg1650Gln)
c.4844G>A (p.Arg1615Gln)
c.4835G>A (p.Arg1612Gln)
c.4796G>A (p.Arg1599Gln)
c.4742G>A (p.Arg1581Gln)
c.4646G>A (p.Arg1549Gln)
c.4616G>A (p.Arg1539Gln)
c.4541G>A (p.Arg1514Gln)
c.4439G>A (p.Arg1480Gln)
c.4070G>A (p.Arg1357Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840513G>CCA16032107APCc.4973G>C (p.Arg1658Pro)
c.*4925G>C (n.*4925G>C)
c.4865G>C (p.Arg1622Pro)
c.4919G>C (p.Arg1640Pro)
c.*4241G>C (n.*4241G>C)
c.230+11541G>C
c.4949G>C (p.Arg1650Pro)
c.4844G>C (p.Arg1615Pro)
c.4835G>C (p.Arg1612Pro)
c.4796G>C (p.Arg1599Pro)
c.4742G>C (p.Arg1581Pro)
c.4646G>C (p.Arg1549Pro)
c.4616G>C (p.Arg1539Pro)
c.4541G>C (p.Arg1514Pro)
c.4439G>C (p.Arg1480Pro)
c.4070G>C (p.Arg1357Pro)
 dbSNP
5g.112840513G=CA1573472498APCc.4973G= (p.Arg1658=)
c.*4925G= (n.*4925G=)
c.4865G= (p.Arg1622=)
c.4919G= (p.Arg1640=)
c.*4241G= (n.*4241G=)
c.230+11541G=
c.4949G= (p.Arg1650=)
c.4844G= (p.Arg1615=)
c.4835G= (p.Arg1612=)
c.4796G= (p.Arg1599=)
c.4742G= (p.Arg1581=)
c.4646G= (p.Arg1549=)
c.4616G= (p.Arg1539=)
c.4541G= (p.Arg1514=)
c.4439G= (p.Arg1480=)
c.4070G= (p.Arg1357=)
5g.112840513G>TCA16032108APCc.4973G>T (p.Arg1658Leu)
c.*4925G>T (n.*4925G>T)
c.4865G>T (p.Arg1622Leu)
c.4919G>T (p.Arg1640Leu)
c.*4241G>T (n.*4241G>T)
c.230+11541G>T
c.4949G>T (p.Arg1650Leu)
c.4844G>T (p.Arg1615Leu)
c.4835G>T (p.Arg1612Leu)
c.4796G>T (p.Arg1599Leu)
c.4742G>T (p.Arg1581Leu)
c.4646G>T (p.Arg1549Leu)
c.4616G>T (p.Arg1539Leu)
c.4541G>T (p.Arg1514Leu)
c.4439G>T (p.Arg1480Leu)
c.4070G>T (p.Arg1357Leu)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112840514G>ACA446208693APCc.4974G>A (p.Arg1658=)
c.*4926G>A (n.*4926G>A)
c.4866G>A (p.Arg1622=)
c.4920G>A (p.Arg1640=)
c.*4242G>A (n.*4242G>A)
c.230+11542G>A
c.4950G>A (p.Arg1650=)
c.4845G>A (p.Arg1615=)
c.4836G>A (p.Arg1612=)
c.4797G>A (p.Arg1599=)
c.4743G>A (p.Arg1581=)
c.4647G>A (p.Arg1549=)
c.4617G>A (p.Arg1539=)
c.4542G>A (p.Arg1514=)
c.4440G>A (p.Arg1480=)
c.4071G>A (p.Arg1357=)
 ClinVar dbSNP
5g.112840514G>CCA446208694APCc.4974G>C (p.Arg1658=)
c.*4926G>C (n.*4926G>C)
c.4866G>C (p.Arg1622=)
c.4920G>C (p.Arg1640=)
c.*4242G>C (n.*4242G>C)
c.230+11542G>C
c.4950G>C (p.Arg1650=)
c.4845G>C (p.Arg1615=)
c.4836G>C (p.Arg1612=)
c.4797G>C (p.Arg1599=)
c.4743G>C (p.Arg1581=)
c.4647G>C (p.Arg1549=)
c.4617G>C (p.Arg1539=)
c.4542G>C (p.Arg1514=)
c.4440G>C (p.Arg1480=)
c.4071G>C (p.Arg1357=)
 ClinVar dbSNP gnomAD v4
5g.112840514G=CA1573472512APCc.4974G= (p.Arg1658=)
c.*4926G= (n.*4926G=)
c.4866G= (p.Arg1622=)
c.4920G= (p.Arg1640=)
c.*4242G= (n.*4242G=)
c.230+11542G=
c.4950G= (p.Arg1650=)
c.4845G= (p.Arg1615=)
c.4836G= (p.Arg1612=)
c.4797G= (p.Arg1599=)
c.4743G= (p.Arg1581=)
c.4647G= (p.Arg1549=)
c.4617G= (p.Arg1539=)
c.4542G= (p.Arg1514=)
c.4440G= (p.Arg1480=)
c.4071G= (p.Arg1357=)
5g.112840514G>TCA446208695APCc.4974G>T (p.Arg1658=)
c.*4926G>T (n.*4926G>T)
c.4866G>T (p.Arg1622=)
c.4920G>T (p.Arg1640=)
c.*4242G>T (n.*4242G>T)
c.230+11542G>T
c.4950G>T (p.Arg1650=)
c.4845G>T (p.Arg1615=)
c.4836G>T (p.Arg1612=)
c.4797G>T (p.Arg1599=)
c.4743G>T (p.Arg1581=)
c.4647G>T (p.Arg1549=)
c.4617G>T (p.Arg1539=)
c.4542G>T (p.Arg1514=)
c.4440G>T (p.Arg1480=)
c.4071G>T (p.Arg1357=)
 ClinVar dbSNP
5g.112840515G>ACA040215APCc.4975G>A (p.Val1659Met)
c.*4927G>A (n.*4927G>A)
c.4867G>A (p.Val1623Met)
c.4921G>A (p.Val1641Met)
c.*4243G>A (n.*4243G>A)
c.230+11543G>A
c.4951G>A (p.Val1651Met)
c.4846G>A (p.Val1616Met)
c.4837G>A (p.Val1613Met)
c.4798G>A (p.Val1600Met)
c.4744G>A (p.Val1582Met)
c.4648G>A (p.Val1550Met)
c.4618G>A (p.Val1540Met)
c.4543G>A (p.Val1515Met)
c.4441G>A (p.Val1481Met)
c.4072G>A (p.Val1358Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840515G>CCA16032109APCc.4975G>C (p.Val1659Leu)
c.*4927G>C (n.*4927G>C)
c.4867G>C (p.Val1623Leu)
c.4921G>C (p.Val1641Leu)
c.*4243G>C (n.*4243G>C)
c.230+11543G>C
c.4951G>C (p.Val1651Leu)
c.4846G>C (p.Val1616Leu)
c.4837G>C (p.Val1613Leu)
c.4798G>C (p.Val1600Leu)
c.4744G>C (p.Val1582Leu)
c.4648G>C (p.Val1550Leu)
c.4618G>C (p.Val1540Leu)
c.4543G>C (p.Val1515Leu)
c.4441G>C (p.Val1481Leu)
c.4072G>C (p.Val1358Leu)
 ClinVar dbSNP
5g.112840515G=CA1573472529APCc.4975G= (p.Val1659=)
c.*4927G= (n.*4927G=)
c.4867G= (p.Val1623=)
c.4921G= (p.Val1641=)
c.*4243G= (n.*4243G=)
c.230+11543G=
c.4951G= (p.Val1651=)
c.4846G= (p.Val1616=)
c.4837G= (p.Val1613=)
c.4798G= (p.Val1600=)
c.4744G= (p.Val1582=)
c.4648G= (p.Val1550=)
c.4618G= (p.Val1540=)
c.4543G= (p.Val1515=)
c.4441G= (p.Val1481=)
c.4072G= (p.Val1358=)
5g.112840515G>TCA16032110APCc.4975G>T (p.Val1659Leu)
c.*4927G>T (n.*4927G>T)
c.4867G>T (p.Val1623Leu)
c.4921G>T (p.Val1641Leu)
c.*4243G>T (n.*4243G>T)
c.230+11543G>T
c.4951G>T (p.Val1651Leu)
c.4846G>T (p.Val1616Leu)
c.4837G>T (p.Val1613Leu)
c.4798G>T (p.Val1600Leu)
c.4744G>T (p.Val1582Leu)
c.4648G>T (p.Val1550Leu)
c.4618G>T (p.Val1540Leu)
c.4543G>T (p.Val1515Leu)
c.4441G>T (p.Val1481Leu)
c.4072G>T (p.Val1358Leu)
 ClinVar dbSNP gnomAD v4
5g.112840516T>ACA16032111APCc.4976T>A (p.Val1659Glu)
c.*4928T>A (n.*4928T>A)
c.4868T>A (p.Val1623Glu)
c.4922T>A (p.Val1641Glu)
c.*4244T>A (n.*4244T>A)
c.230+11544T>A
c.4952T>A (p.Val1651Glu)
c.4847T>A (p.Val1616Glu)
c.4838T>A (p.Val1613Glu)
c.4799T>A (p.Val1600Glu)
c.4745T>A (p.Val1582Glu)
c.4649T>A (p.Val1550Glu)
c.4619T>A (p.Val1540Glu)
c.4544T>A (p.Val1515Glu)
c.4442T>A (p.Val1481Glu)
c.4073T>A (p.Val1358Glu)
 ClinVar dbSNP
5g.112840516T>CCA16032112APCc.4976T>C (p.Val1659Ala)
c.*4928T>C (n.*4928T>C)
c.4868T>C (p.Val1623Ala)
c.4922T>C (p.Val1641Ala)
c.*4244T>C (n.*4244T>C)
c.230+11544T>C
c.4952T>C (p.Val1651Ala)
c.4847T>C (p.Val1616Ala)
c.4838T>C (p.Val1613Ala)
c.4799T>C (p.Val1600Ala)
c.4745T>C (p.Val1582Ala)
c.4649T>C (p.Val1550Ala)
c.4619T>C (p.Val1540Ala)
c.4544T>C (p.Val1515Ala)
c.4442T>C (p.Val1481Ala)
c.4073T>C (p.Val1358Ala)
 dbSNP
5g.112840516T>GCA16032113APCc.4976T>G (p.Val1659Gly)
c.*4928T>G (n.*4928T>G)
c.4868T>G (p.Val1623Gly)
c.4922T>G (p.Val1641Gly)
c.*4244T>G (n.*4244T>G)
c.230+11544T>G
c.4952T>G (p.Val1651Gly)
c.4847T>G (p.Val1616Gly)
c.4838T>G (p.Val1613Gly)
c.4799T>G (p.Val1600Gly)
c.4745T>G (p.Val1582Gly)
c.4649T>G (p.Val1550Gly)
c.4619T>G (p.Val1540Gly)
c.4544T>G (p.Val1515Gly)
c.4442T>G (p.Val1481Gly)
c.4073T>G (p.Val1358Gly)
 dbSNP
5g.112840517G>ACA446208696APCc.4977G>A (p.Val1659=)
c.*4929G>A (n.*4929G>A)
c.4869G>A (p.Val1623=)
c.4923G>A (p.Val1641=)
c.*4245G>A (n.*4245G>A)
c.230+11545G>A
c.4953G>A (p.Val1651=)
c.4848G>A (p.Val1616=)
c.4839G>A (p.Val1613=)
c.4800G>A (p.Val1600=)
c.4746G>A (p.Val1582=)
c.4650G>A (p.Val1550=)
c.4620G>A (p.Val1540=)
c.4545G>A (p.Val1515=)
c.4443G>A (p.Val1481=)
c.4074G>A (p.Val1358=)
 ClinVar dbSNP
5g.112840517G>CCA446208697APCc.4977G>C (p.Val1659=)
c.*4929G>C (n.*4929G>C)
c.4869G>C (p.Val1623=)
c.4923G>C (p.Val1641=)
c.*4245G>C (n.*4245G>C)
c.230+11545G>C
c.4953G>C (p.Val1651=)
c.4848G>C (p.Val1616=)
c.4839G>C (p.Val1613=)
c.4800G>C (p.Val1600=)
c.4746G>C (p.Val1582=)
c.4650G>C (p.Val1550=)
c.4620G>C (p.Val1540=)
c.4545G>C (p.Val1515=)
c.4443G>C (p.Val1481=)
c.4074G>C (p.Val1358=)
 dbSNP
5g.112840517G>TCA446208698APCc.4977G>T (p.Val1659=)
c.*4929G>T (n.*4929G>T)
c.4869G>T (p.Val1623=)
c.4923G>T (p.Val1641=)
c.*4245G>T (n.*4245G>T)
c.230+11545G>T
c.4953G>T (p.Val1651=)
c.4848G>T (p.Val1616=)
c.4839G>T (p.Val1613=)
c.4800G>T (p.Val1600=)
c.4746G>T (p.Val1582=)
c.4650G>T (p.Val1550=)
c.4620G>T (p.Val1540=)
c.4545G>T (p.Val1515=)
c.4443G>T (p.Val1481=)
c.4074G>T (p.Val1358=)
5g.112840518T>ACA16032114APCc.4978T>A (p.Tyr1660Asn)
c.*4930T>A (n.*4930T>A)
c.4870T>A (p.Tyr1624Asn)
c.4924T>A (p.Tyr1642Asn)
c.*4246T>A (n.*4246T>A)
c.230+11546T>A
c.4954T>A (p.Tyr1652Asn)
c.4849T>A (p.Tyr1617Asn)
c.4840T>A (p.Tyr1614Asn)
c.4801T>A (p.Tyr1601Asn)
c.4747T>A (p.Tyr1583Asn)
c.4651T>A (p.Tyr1551Asn)
c.4621T>A (p.Tyr1541Asn)
c.4546T>A (p.Tyr1516Asn)
c.4444T>A (p.Tyr1482Asn)
c.4075T>A (p.Tyr1359Asn)
 dbSNP
5g.112840518T>CCA16032115APCc.4978T>C (p.Tyr1660His)
c.*4930T>C (n.*4930T>C)
c.4870T>C (p.Tyr1624His)
c.4924T>C (p.Tyr1642His)
c.*4246T>C (n.*4246T>C)
c.230+11546T>C
c.4954T>C (p.Tyr1652His)
c.4849T>C (p.Tyr1617His)
c.4840T>C (p.Tyr1614His)
c.4801T>C (p.Tyr1601His)
c.4747T>C (p.Tyr1583His)
c.4651T>C (p.Tyr1551His)
c.4621T>C (p.Tyr1541His)
c.4546T>C (p.Tyr1516His)
c.4444T>C (p.Tyr1482His)
c.4075T>C (p.Tyr1359His)
 dbSNP
5g.112840518T>GCA16032116APCc.4978T>G (p.Tyr1660Asp)
c.*4930T>G (n.*4930T>G)
c.4870T>G (p.Tyr1624Asp)
c.4924T>G (p.Tyr1642Asp)
c.*4246T>G (n.*4246T>G)
c.230+11546T>G
c.4954T>G (p.Tyr1652Asp)
c.4849T>G (p.Tyr1617Asp)
c.4840T>G (p.Tyr1614Asp)
c.4801T>G (p.Tyr1601Asp)
c.4747T>G (p.Tyr1583Asp)
c.4651T>G (p.Tyr1551Asp)
c.4621T>G (p.Tyr1541Asp)
c.4546T>G (p.Tyr1516Asp)
c.4444T>G (p.Tyr1482Asp)
c.4075T>G (p.Tyr1359Asp)
 ClinVar dbSNP
5g.112840518T=CA1573472534APCc.4978T= (p.Tyr1660=)
c.*4930T= (n.*4930T=)
c.4870T= (p.Tyr1624=)
c.4924T= (p.Tyr1642=)
c.*4246T= (n.*4246T=)
c.230+11546T=
c.4954T= (p.Tyr1652=)
c.4849T= (p.Tyr1617=)
c.4840T= (p.Tyr1614=)
c.4801T= (p.Tyr1601=)
c.4747T= (p.Tyr1583=)
c.4651T= (p.Tyr1551=)
c.4621T= (p.Tyr1541=)
c.4546T= (p.Tyr1516=)
c.4444T= (p.Tyr1482=)
c.4075T= (p.Tyr1359=)
5g.112840519_112840520delCA2573138713APCc.4979_4980del (p.Tyr1660LeufsTer3)
c.*4931_*4932del (n.*4931_*4932del)
c.4871_4872del (p.Tyr1624LeufsTer3)
c.4925_4926del (p.Tyr1642LeufsTer3)
c.*4247_*4248del (n.*4247_*4248del)
c.230+11547_230+11548del
c.4955_4956del (p.Tyr1652LeufsTer3)
c.4850_4851del (p.Tyr1617LeufsTer3)
c.4841_4842del (p.Tyr1614LeufsTer3)
c.4802_4803del (p.Tyr1601LeufsTer3)
c.4748_4749del (p.Tyr1583LeufsTer3)
c.4652_4653del (p.Tyr1551LeufsTer3)
c.4622_4623del (p.Tyr1541LeufsTer3)
c.4547_4548del (p.Tyr1516LeufsTer3)
c.4445_4446del (p.Tyr1482LeufsTer3)
c.4076_4077del (p.Tyr1359LeufsTer3)
 ClinVar dbSNP
5g.112840519A=CA1573472538APCc.4979A= (p.Tyr1660=)
c.*4931A= (n.*4931A=)
c.4871A= (p.Tyr1624=)
c.4925A= (p.Tyr1642=)
c.*4247A= (n.*4247A=)
c.230+11547A=
c.4955A= (p.Tyr1652=)
c.4850A= (p.Tyr1617=)
c.4841A= (p.Tyr1614=)
c.4802A= (p.Tyr1601=)
c.4748A= (p.Tyr1583=)
c.4652A= (p.Tyr1551=)
c.4622A= (p.Tyr1541=)
c.4547A= (p.Tyr1516=)
c.4445A= (p.Tyr1482=)
c.4076A= (p.Tyr1359=)
5g.112840519A>CCA16032117APCc.4979A>C (p.Tyr1660Ser)
c.*4931A>C (n.*4931A>C)
c.4871A>C (p.Tyr1624Ser)
c.4925A>C (p.Tyr1642Ser)
c.*4247A>C (n.*4247A>C)
c.230+11547A>C
c.4955A>C (p.Tyr1652Ser)
c.4850A>C (p.Tyr1617Ser)
c.4841A>C (p.Tyr1614Ser)
c.4802A>C (p.Tyr1601Ser)
c.4748A>C (p.Tyr1583Ser)
c.4652A>C (p.Tyr1551Ser)
c.4622A>C (p.Tyr1541Ser)
c.4547A>C (p.Tyr1516Ser)
c.4445A>C (p.Tyr1482Ser)
c.4076A>C (p.Tyr1359Ser)
 dbSNP
5g.112840519A>GCA040224APCc.4979A>G (p.Tyr1660Cys)
c.*4931A>G (n.*4931A>G)
c.4871A>G (p.Tyr1624Cys)
c.4925A>G (p.Tyr1642Cys)
c.*4247A>G (n.*4247A>G)
c.230+11547A>G
c.4955A>G (p.Tyr1652Cys)
c.4850A>G (p.Tyr1617Cys)
c.4841A>G (p.Tyr1614Cys)
c.4802A>G (p.Tyr1601Cys)
c.4748A>G (p.Tyr1583Cys)
c.4652A>G (p.Tyr1551Cys)
c.4622A>G (p.Tyr1541Cys)
c.4547A>G (p.Tyr1516Cys)
c.4445A>G (p.Tyr1482Cys)
c.4076A>G (p.Tyr1359Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840519A>TCA16032118APCc.4979A>T (p.Tyr1660Phe)
c.*4931A>T (n.*4931A>T)
c.4871A>T (p.Tyr1624Phe)
c.4925A>T (p.Tyr1642Phe)
c.*4247A>T (n.*4247A>T)
c.230+11547A>T
c.4955A>T (p.Tyr1652Phe)
c.4850A>T (p.Tyr1617Phe)
c.4841A>T (p.Tyr1614Phe)
c.4802A>T (p.Tyr1601Phe)
c.4748A>T (p.Tyr1583Phe)
c.4652A>T (p.Tyr1551Phe)
c.4622A>T (p.Tyr1541Phe)
c.4547A>T (p.Tyr1516Phe)
c.4445A>T (p.Tyr1482Phe)
c.4076A>T (p.Tyr1359Phe)
 ClinVar
5g.112840520T>ACA16032119APCc.4980T>A (p.Tyr1660Ter)
c.*4932T>A (n.*4932T>A)
c.4872T>A (p.Tyr1624Ter)
c.4926T>A (p.Tyr1642Ter)
c.*4248T>A (n.*4248T>A)
c.230+11548T>A
c.4956T>A (p.Tyr1652Ter)
c.4851T>A (p.Tyr1617Ter)
c.4842T>A (p.Tyr1614Ter)
c.4803T>A (p.Tyr1601Ter)
c.4749T>A (p.Tyr1583Ter)
c.4653T>A (p.Tyr1551Ter)
c.4623T>A (p.Tyr1541Ter)
c.4548T>A (p.Tyr1516Ter)
c.4446T>A (p.Tyr1482Ter)
c.4077T>A (p.Tyr1359Ter)
 dbSNP
5g.112840520T>CCA446208699APCc.4980T>C (p.Tyr1660=)
c.*4932T>C (n.*4932T>C)
c.4872T>C (p.Tyr1624=)
c.4926T>C (p.Tyr1642=)
c.*4248T>C (n.*4248T>C)
c.230+11548T>C
c.4956T>C (p.Tyr1652=)
c.4851T>C (p.Tyr1617=)
c.4842T>C (p.Tyr1614=)
c.4803T>C (p.Tyr1601=)
c.4749T>C (p.Tyr1583=)
c.4653T>C (p.Tyr1551=)
c.4623T>C (p.Tyr1541=)
c.4548T>C (p.Tyr1516=)
c.4446T>C (p.Tyr1482=)
c.4077T>C (p.Tyr1359=)
 dbSNP gnomAD v2 gnomAD v4
5g.112840520T>GCA16032120APCc.4980T>G (p.Tyr1660Ter)
c.*4932T>G (n.*4932T>G)
c.4872T>G (p.Tyr1624Ter)
c.4926T>G (p.Tyr1642Ter)
c.*4248T>G (n.*4248T>G)
c.230+11548T>G
c.4956T>G (p.Tyr1652Ter)
c.4851T>G (p.Tyr1617Ter)
c.4842T>G (p.Tyr1614Ter)
c.4803T>G (p.Tyr1601Ter)
c.4749T>G (p.Tyr1583Ter)
c.4653T>G (p.Tyr1551Ter)
c.4623T>G (p.Tyr1541Ter)
c.4548T>G (p.Tyr1516Ter)
c.4446T>G (p.Tyr1482Ter)
c.4077T>G (p.Tyr1359Ter)
5g.112840520T=CA1573472542APCc.4980T= (p.Tyr1660=)
c.*4932T= (n.*4932T=)
c.4872T= (p.Tyr1624=)
c.4926T= (p.Tyr1642=)
c.*4248T= (n.*4248T=)
c.230+11548T=
c.4956T= (p.Tyr1652=)
c.4851T= (p.Tyr1617=)
c.4842T= (p.Tyr1614=)
c.4803T= (p.Tyr1601=)
c.4749T= (p.Tyr1583=)
c.4653T= (p.Tyr1551=)
c.4623T= (p.Tyr1541=)
c.4548T= (p.Tyr1516=)
c.4446T= (p.Tyr1482=)
c.4077T= (p.Tyr1359=)
5g.112840521T>ACA16032121APCc.4981T>A (p.Cys1661Ser)
c.*4933T>A (n.*4933T>A)
c.4873T>A (p.Cys1625Ser)
c.4927T>A (p.Cys1643Ser)
c.*4249T>A (n.*4249T>A)
c.230+11549T>A
c.4957T>A (p.Cys1653Ser)
c.4852T>A (p.Cys1618Ser)
c.4843T>A (p.Cys1615Ser)
c.4804T>A (p.Cys1602Ser)
c.4750T>A (p.Cys1584Ser)
c.4654T>A (p.Cys1552Ser)
c.4624T>A (p.Cys1542Ser)
c.4549T>A (p.Cys1517Ser)
c.4447T>A (p.Cys1483Ser)
c.4078T>A (p.Cys1360Ser)
 dbSNP
5g.112840521T>CCA16032122APCc.4981T>C (p.Cys1661Arg)
c.*4933T>C (n.*4933T>C)
c.4873T>C (p.Cys1625Arg)
c.4927T>C (p.Cys1643Arg)
c.*4249T>C (n.*4249T>C)
c.230+11549T>C
c.4957T>C (p.Cys1653Arg)
c.4852T>C (p.Cys1618Arg)
c.4843T>C (p.Cys1615Arg)
c.4804T>C (p.Cys1602Arg)
c.4750T>C (p.Cys1584Arg)
c.4654T>C (p.Cys1552Arg)
c.4624T>C (p.Cys1542Arg)
c.4549T>C (p.Cys1517Arg)
c.4447T>C (p.Cys1483Arg)
c.4078T>C (p.Cys1360Arg)
 dbSNP
5g.112840521T>GCA16032123APCc.4981T>G (p.Cys1661Gly)
c.*4933T>G (n.*4933T>G)
c.4873T>G (p.Cys1625Gly)
c.4927T>G (p.Cys1643Gly)
c.*4249T>G (n.*4249T>G)
c.230+11549T>G
c.4957T>G (p.Cys1653Gly)
c.4852T>G (p.Cys1618Gly)
c.4843T>G (p.Cys1615Gly)
c.4804T>G (p.Cys1602Gly)
c.4750T>G (p.Cys1584Gly)
c.4654T>G (p.Cys1552Gly)
c.4624T>G (p.Cys1542Gly)
c.4549T>G (p.Cys1517Gly)
c.4447T>G (p.Cys1483Gly)
c.4078T>G (p.Cys1360Gly)
5g.112840522delCA2580072596APCc.4982del (p.Cys1661LeufsTer7)
c.*4934del (n.*4934del)
c.4874del (p.Cys1625LeufsTer7)
c.4928del (p.Cys1643LeufsTer7)
c.*4250del (n.*4250del)
c.230+11550del
c.4958del (p.Cys1653LeufsTer7)
c.4853del (p.Cys1618LeufsTer7)
c.4844del (p.Cys1615LeufsTer7)
c.4805del (p.Cys1602LeufsTer7)
c.4751del (p.Cys1584LeufsTer7)
c.4655del (p.Cys1552LeufsTer7)
c.4625del (p.Cys1542LeufsTer7)
c.4550del (p.Cys1517LeufsTer7)
c.4448del (p.Cys1483LeufsTer7)
c.4079del (p.Cys1360LeufsTer7)
 ClinVar
5g.112840522G>ACA338249APCc.4982G>A (p.Cys1661Tyr)
c.*4934G>A (n.*4934G>A)
c.4874G>A (p.Cys1625Tyr)
c.4928G>A (p.Cys1643Tyr)
c.*4250G>A (n.*4250G>A)
c.230+11550G>A
c.4958G>A (p.Cys1653Tyr)
c.4853G>A (p.Cys1618Tyr)
c.4844G>A (p.Cys1615Tyr)
c.4805G>A (p.Cys1602Tyr)
c.4751G>A (p.Cys1584Tyr)
c.4655G>A (p.Cys1552Tyr)
c.4625G>A (p.Cys1542Tyr)
c.4550G>A (p.Cys1517Tyr)
c.4448G>A (p.Cys1483Tyr)
c.4079G>A (p.Cys1360Tyr)
 ClinVar dbSNP
5g.112840522G>CCA16032124APCc.4982G>C (p.Cys1661Ser)
c.*4934G>C (n.*4934G>C)
c.4874G>C (p.Cys1625Ser)
c.4928G>C (p.Cys1643Ser)
c.*4250G>C (n.*4250G>C)
c.230+11550G>C
c.4958G>C (p.Cys1653Ser)
c.4853G>C (p.Cys1618Ser)
c.4844G>C (p.Cys1615Ser)
c.4805G>C (p.Cys1602Ser)
c.4751G>C (p.Cys1584Ser)
c.4655G>C (p.Cys1552Ser)
c.4625G>C (p.Cys1542Ser)
c.4550G>C (p.Cys1517Ser)
c.4448G>C (p.Cys1483Ser)
c.4079G>C (p.Cys1360Ser)
 ClinVar
5g.112840522G=CA1573472547APCc.4982G= (p.Cys1661=)
c.*4934G= (n.*4934G=)
c.4874G= (p.Cys1625=)
c.4928G= (p.Cys1643=)
c.*4250G= (n.*4250G=)
c.230+11550G=
c.4958G= (p.Cys1653=)
c.4853G= (p.Cys1618=)
c.4844G= (p.Cys1615=)
c.4805G= (p.Cys1602=)
c.4751G= (p.Cys1584=)
c.4655G= (p.Cys1552=)
c.4625G= (p.Cys1542=)
c.4550G= (p.Cys1517=)
c.4448G= (p.Cys1483=)
c.4079G= (p.Cys1360=)
5g.112840522G>TCA040240APCc.4982G>T (p.Cys1661Phe)
c.*4934G>T (n.*4934G>T)
c.4874G>T (p.Cys1625Phe)
c.4928G>T (p.Cys1643Phe)
c.*4250G>T (n.*4250G>T)
c.230+11550G>T
c.4958G>T (p.Cys1653Phe)
c.4853G>T (p.Cys1618Phe)
c.4844G>T (p.Cys1615Phe)
c.4805G>T (p.Cys1602Phe)
c.4751G>T (p.Cys1584Phe)
c.4655G>T (p.Cys1552Phe)
c.4625G>T (p.Cys1542Phe)
c.4550G>T (p.Cys1517Phe)
c.4448G>T (p.Cys1483Phe)
c.4079G>T (p.Cys1360Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840523T>ACA16032125APCc.4983T>A (p.Cys1661Ter)
c.*4935T>A (n.*4935T>A)
c.4875T>A (p.Cys1625Ter)
c.4929T>A (p.Cys1643Ter)
c.*4251T>A (n.*4251T>A)
c.230+11551T>A
c.4959T>A (p.Cys1653Ter)
c.4854T>A (p.Cys1618Ter)
c.4845T>A (p.Cys1615Ter)
c.4806T>A (p.Cys1602Ter)
c.4752T>A (p.Cys1584Ter)
c.4656T>A (p.Cys1552Ter)
c.4626T>A (p.Cys1542Ter)
c.4551T>A (p.Cys1517Ter)
c.4449T>A (p.Cys1483Ter)
c.4080T>A (p.Cys1360Ter)
 dbSNP
5g.112840523T>CCA446208700APCc.4983T>C (p.Cys1661=)
c.*4935T>C (n.*4935T>C)
c.4875T>C (p.Cys1625=)
c.4929T>C (p.Cys1643=)
c.*4251T>C (n.*4251T>C)
c.230+11551T>C
c.4959T>C (p.Cys1653=)
c.4854T>C (p.Cys1618=)
c.4845T>C (p.Cys1615=)
c.4806T>C (p.Cys1602=)
c.4752T>C (p.Cys1584=)
c.4656T>C (p.Cys1552=)
c.4626T>C (p.Cys1542=)
c.4551T>C (p.Cys1517=)
c.4449T>C (p.Cys1483=)
c.4080T>C (p.Cys1360=)
 dbSNP COSMIC
5g.112840523T>GCA16032126APCc.4983T>G (p.Cys1661Trp)
c.*4935T>G (n.*4935T>G)
c.4875T>G (p.Cys1625Trp)
c.4929T>G (p.Cys1643Trp)
c.*4251T>G (n.*4251T>G)
c.230+11551T>G
c.4959T>G (p.Cys1653Trp)
c.4854T>G (p.Cys1618Trp)
c.4845T>G (p.Cys1615Trp)
c.4806T>G (p.Cys1602Trp)
c.4752T>G (p.Cys1584Trp)
c.4656T>G (p.Cys1552Trp)
c.4626T>G (p.Cys1542Trp)
c.4551T>G (p.Cys1517Trp)
c.4449T>G (p.Cys1483Trp)
c.4080T>G (p.Cys1360Trp)
 ClinVar dbSNP
5g.112840524G>ACA16032127APCc.4984G>A (p.Val1662Ile)
c.*4936G>A (n.*4936G>A)
c.4876G>A (p.Val1626Ile)
c.4930G>A (p.Val1644Ile)
c.*4252G>A (n.*4252G>A)
c.230+11552G>A
c.4960G>A (p.Val1654Ile)
c.4855G>A (p.Val1619Ile)
c.4846G>A (p.Val1616Ile)
c.4807G>A (p.Val1603Ile)
c.4753G>A (p.Val1585Ile)
c.4657G>A (p.Val1553Ile)
c.4627G>A (p.Val1543Ile)
c.4552G>A (p.Val1518Ile)
c.4450G>A (p.Val1484Ile)
c.4081G>A (p.Val1361Ile)
 dbSNP
5g.112840524G>CCA16032128APCc.4984G>C (p.Val1662Leu)
c.*4936G>C (n.*4936G>C)
c.4876G>C (p.Val1626Leu)
c.4930G>C (p.Val1644Leu)
c.*4252G>C (n.*4252G>C)
c.230+11552G>C
c.4960G>C (p.Val1654Leu)
c.4855G>C (p.Val1619Leu)
c.4846G>C (p.Val1616Leu)
c.4807G>C (p.Val1603Leu)
c.4753G>C (p.Val1585Leu)
c.4657G>C (p.Val1553Leu)
c.4627G>C (p.Val1543Leu)
c.4552G>C (p.Val1518Leu)
c.4450G>C (p.Val1484Leu)
c.4081G>C (p.Val1361Leu)
 dbSNP
5g.112840524G>TCA16032129APCc.4984G>T (p.Val1662Phe)
c.*4936G>T (n.*4936G>T)
c.4876G>T (p.Val1626Phe)
c.4930G>T (p.Val1644Phe)
c.*4252G>T (n.*4252G>T)
c.230+11552G>T
c.4960G>T (p.Val1654Phe)
c.4855G>T (p.Val1619Phe)
c.4846G>T (p.Val1616Phe)
c.4807G>T (p.Val1603Phe)
c.4753G>T (p.Val1585Phe)
c.4657G>T (p.Val1553Phe)
c.4627G>T (p.Val1543Phe)
c.4552G>T (p.Val1518Phe)
c.4450G>T (p.Val1484Phe)
c.4081G>T (p.Val1361Phe)
 dbSNP
5g.112840525T>ACA16032130APCc.4985T>A (p.Val1662Asp)
c.*4937T>A (n.*4937T>A)
c.4877T>A (p.Val1626Asp)
c.4931T>A (p.Val1644Asp)
c.*4253T>A (n.*4253T>A)
c.230+11553T>A
c.4961T>A (p.Val1654Asp)
c.4856T>A (p.Val1619Asp)
c.4847T>A (p.Val1616Asp)
c.4808T>A (p.Val1603Asp)
c.4754T>A (p.Val1585Asp)
c.4658T>A (p.Val1553Asp)
c.4628T>A (p.Val1543Asp)
c.4553T>A (p.Val1518Asp)
c.4451T>A (p.Val1484Asp)
c.4082T>A (p.Val1361Asp)
 dbSNP
5g.112840525T>CCA16032131APCc.4985T>C (p.Val1662Ala)
c.*4937T>C (n.*4937T>C)
c.4877T>C (p.Val1626Ala)
c.4931T>C (p.Val1644Ala)
c.*4253T>C (n.*4253T>C)
c.230+11553T>C
c.4961T>C (p.Val1654Ala)
c.4856T>C (p.Val1619Ala)
c.4847T>C (p.Val1616Ala)
c.4808T>C (p.Val1603Ala)
c.4754T>C (p.Val1585Ala)
c.4658T>C (p.Val1553Ala)
c.4628T>C (p.Val1543Ala)
c.4553T>C (p.Val1518Ala)
c.4451T>C (p.Val1484Ala)
c.4082T>C (p.Val1361Ala)
 dbSNP
5g.112840525T>GCA16032132APCc.4985T>G (p.Val1662Gly)
c.*4937T>G (n.*4937T>G)
c.4877T>G (p.Val1626Gly)
c.4931T>G (p.Val1644Gly)
c.*4253T>G (n.*4253T>G)
c.230+11553T>G
c.4961T>G (p.Val1654Gly)
c.4856T>G (p.Val1619Gly)
c.4847T>G (p.Val1616Gly)
c.4808T>G (p.Val1603Gly)
c.4754T>G (p.Val1585Gly)
c.4658T>G (p.Val1553Gly)
c.4628T>G (p.Val1543Gly)
c.4553T>G (p.Val1518Gly)
c.4451T>G (p.Val1484Gly)
c.4082T>G (p.Val1361Gly)
 dbSNP
5g.112840526T>ACA446208703APCc.4986T>A (p.Val1662=)
c.*4938T>A (n.*4938T>A)
c.4878T>A (p.Val1626=)
c.4932T>A (p.Val1644=)
c.*4254T>A (n.*4254T>A)
c.230+11554T>A
c.4962T>A (p.Val1654=)
c.4857T>A (p.Val1619=)
c.4848T>A (p.Val1616=)
c.4809T>A (p.Val1603=)
c.4755T>A (p.Val1585=)
c.4659T>A (p.Val1553=)
c.4629T>A (p.Val1543=)
c.4554T>A (p.Val1518=)
c.4452T>A (p.Val1484=)
c.4083T>A (p.Val1361=)
 dbSNP
5g.112840526T>CCA446208702APCc.4986T>C (p.Val1662=)
c.*4938T>C (n.*4938T>C)
c.4878T>C (p.Val1626=)
c.4932T>C (p.Val1644=)
c.*4254T>C (n.*4254T>C)
c.230+11554T>C
c.4962T>C (p.Val1654=)
c.4857T>C (p.Val1619=)
c.4848T>C (p.Val1616=)
c.4809T>C (p.Val1603=)
c.4755T>C (p.Val1585=)
c.4659T>C (p.Val1553=)
c.4629T>C (p.Val1543=)
c.4554T>C (p.Val1518=)
c.4452T>C (p.Val1484=)
c.4083T>C (p.Val1361=)
5g.112840526T>GCA446208701APCc.4986T>G (p.Val1662=)
c.*4938T>G (n.*4938T>G)
c.4878T>G (p.Val1626=)
c.4932T>G (p.Val1644=)
c.*4254T>G (n.*4254T>G)
c.230+11554T>G
c.4962T>G (p.Val1654=)
c.4857T>G (p.Val1619=)
c.4848T>G (p.Val1616=)
c.4809T>G (p.Val1603=)
c.4755T>G (p.Val1585=)
c.4659T>G (p.Val1553=)
c.4629T>G (p.Val1543=)
c.4554T>G (p.Val1518=)
c.4452T>G (p.Val1484=)
c.4083T>G (p.Val1361=)
 ClinVar dbSNP gnomAD v4
5g.112840526T=CA1573472557APCc.4986T= (p.Val1662=)
c.*4938T= (n.*4938T=)
c.4878T= (p.Val1626=)
c.4932T= (p.Val1644=)
c.*4254T= (n.*4254T=)
c.230+11554T=
c.4962T= (p.Val1654=)
c.4857T= (p.Val1619=)
c.4848T= (p.Val1616=)
c.4809T= (p.Val1603=)
c.4755T= (p.Val1585=)
c.4659T= (p.Val1553=)
c.4629T= (p.Val1543=)
c.4554T= (p.Val1518=)
c.4452T= (p.Val1484=)
c.4083T= (p.Val1361=)
5g.112840527G>ACA16032133APCc.4987G>A (p.Glu1663Lys)
c.*4939G>A (n.*4939G>A)
c.4879G>A (p.Glu1627Lys)
c.4933G>A (p.Glu1645Lys)
c.*4255G>A (n.*4255G>A)
c.230+11555G>A
c.4963G>A (p.Glu1655Lys)
c.4858G>A (p.Glu1620Lys)
c.4849G>A (p.Glu1617Lys)
c.4810G>A (p.Glu1604Lys)
c.4756G>A (p.Glu1586Lys)
c.4660G>A (p.Glu1554Lys)
c.4630G>A (p.Glu1544Lys)
c.4555G>A (p.Glu1519Lys)
c.4453G>A (p.Glu1485Lys)
c.4084G>A (p.Glu1362Lys)
5g.112840527G>CCA16032134APCc.4987G>C (p.Glu1663Gln)
c.*4939G>C (n.*4939G>C)
c.4879G>C (p.Glu1627Gln)
c.4933G>C (p.Glu1645Gln)
c.*4255G>C (n.*4255G>C)
c.230+11555G>C
c.4963G>C (p.Glu1655Gln)
c.4858G>C (p.Glu1620Gln)
c.4849G>C (p.Glu1617Gln)
c.4810G>C (p.Glu1604Gln)
c.4756G>C (p.Glu1586Gln)
c.4660G>C (p.Glu1554Gln)
c.4630G>C (p.Glu1544Gln)
c.4555G>C (p.Glu1519Gln)
c.4453G>C (p.Glu1485Gln)
c.4084G>C (p.Glu1362Gln)
 COSMIC
5g.112840527G>TCA16032135APCc.4987G>T (p.Glu1663Ter)
c.*4939G>T (n.*4939G>T)
c.4879G>T (p.Glu1627Ter)
c.4933G>T (p.Glu1645Ter)
c.*4255G>T (n.*4255G>T)
c.230+11555G>T
c.4963G>T (p.Glu1655Ter)
c.4858G>T (p.Glu1620Ter)
c.4849G>T (p.Glu1617Ter)
c.4810G>T (p.Glu1604Ter)
c.4756G>T (p.Glu1586Ter)
c.4660G>T (p.Glu1554Ter)
c.4630G>T (p.Glu1544Ter)
c.4555G>T (p.Glu1519Ter)
c.4453G>T (p.Glu1485Ter)
c.4084G>T (p.Glu1362Ter)
 ClinVar
5g.112840528A>CCA16032136APCc.4988A>C (p.Glu1663Ala)
c.*4940A>C (n.*4940A>C)
c.4880A>C (p.Glu1627Ala)
c.4934A>C (p.Glu1645Ala)
c.*4256A>C (n.*4256A>C)
c.230+11556A>C
c.4964A>C (p.Glu1655Ala)
c.4859A>C (p.Glu1620Ala)
c.4850A>C (p.Glu1617Ala)
c.4811A>C (p.Glu1604Ala)
c.4757A>C (p.Glu1586Ala)
c.4661A>C (p.Glu1554Ala)
c.4631A>C (p.Glu1544Ala)
c.4556A>C (p.Glu1519Ala)
c.4454A>C (p.Glu1485Ala)
c.4085A>C (p.Glu1362Ala)
 dbSNP
5g.112840528A>GCA16032137APCc.4988A>G (p.Glu1663Gly)
c.*4940A>G (n.*4940A>G)
c.4880A>G (p.Glu1627Gly)
c.4934A>G (p.Glu1645Gly)
c.*4256A>G (n.*4256A>G)
c.230+11556A>G
c.4964A>G (p.Glu1655Gly)
c.4859A>G (p.Glu1620Gly)
c.4850A>G (p.Glu1617Gly)
c.4811A>G (p.Glu1604Gly)
c.4757A>G (p.Glu1586Gly)
c.4661A>G (p.Glu1554Gly)
c.4631A>G (p.Glu1544Gly)
c.4556A>G (p.Glu1519Gly)
c.4454A>G (p.Glu1485Gly)
c.4085A>G (p.Glu1362Gly)
 dbSNP
5g.112840528A>TCA16032138APCc.4988A>T (p.Glu1663Val)
c.*4940A>T (n.*4940A>T)
c.4880A>T (p.Glu1627Val)
c.4934A>T (p.Glu1645Val)
c.*4256A>T (n.*4256A>T)
c.230+11556A>T
c.4964A>T (p.Glu1655Val)
c.4859A>T (p.Glu1620Val)
c.4850A>T (p.Glu1617Val)
c.4811A>T (p.Glu1604Val)
c.4757A>T (p.Glu1586Val)
c.4661A>T (p.Glu1554Val)
c.4631A>T (p.Glu1544Val)
c.4556A>T (p.Glu1519Val)
c.4454A>T (p.Glu1485Val)
c.4085A>T (p.Glu1362Val)
 dbSNP
5g.112840529delCA2710008697APCc.4989del (p.Thr1665HisfsTer3)
c.*4941del (n.*4941del)
c.4881del (p.Thr1629HisfsTer3)
c.4935del (p.Thr1647HisfsTer3)
c.*4257del (n.*4257del)
c.230+11557del
c.4965del (p.Thr1657HisfsTer3)
c.4860del (p.Thr1622HisfsTer3)
c.4851del (p.Thr1619HisfsTer3)
c.4812del (p.Thr1606HisfsTer3)
c.4758del (p.Thr1588HisfsTer3)
c.4662del (p.Thr1556HisfsTer3)
c.4632del (p.Thr1546HisfsTer3)
c.4557del (p.Thr1521HisfsTer3)
c.4455del (p.Thr1487HisfsTer3)
c.4086del (p.Thr1364HisfsTer3)
 dbSNP
5g.112840529A>CCA16032139APCc.4989A>C (p.Glu1663Asp)
c.*4941A>C (n.*4941A>C)
c.4881A>C (p.Glu1627Asp)
c.4935A>C (p.Glu1645Asp)
c.*4257A>C (n.*4257A>C)
c.230+11557A>C
c.4965A>C (p.Glu1655Asp)
c.4860A>C (p.Glu1620Asp)
c.4851A>C (p.Glu1617Asp)
c.4812A>C (p.Glu1604Asp)
c.4758A>C (p.Glu1586Asp)
c.4662A>C (p.Glu1554Asp)
c.4632A>C (p.Glu1544Asp)
c.4557A>C (p.Glu1519Asp)
c.4455A>C (p.Glu1485Asp)
c.4086A>C (p.Glu1362Asp)
 dbSNP
5g.112840529A>GCA446208704APCc.4989A>G (p.Glu1663=)
c.*4941A>G (n.*4941A>G)
c.4881A>G (p.Glu1627=)
c.4935A>G (p.Glu1645=)
c.*4257A>G (n.*4257A>G)
c.230+11557A>G
c.4965A>G (p.Glu1655=)
c.4860A>G (p.Glu1620=)
c.4851A>G (p.Glu1617=)
c.4812A>G (p.Glu1604=)
c.4758A>G (p.Glu1586=)
c.4662A>G (p.Glu1554=)
c.4632A>G (p.Glu1544=)
c.4557A>G (p.Glu1519=)
c.4455A>G (p.Glu1485=)
c.4086A>G (p.Glu1362=)
 dbSNP
5g.112840529A>TCA16032140APCc.4989A>T (p.Glu1663Asp)
c.*4941A>T (n.*4941A>T)
c.4881A>T (p.Glu1627Asp)
c.4935A>T (p.Glu1645Asp)
c.*4257A>T (n.*4257A>T)
c.230+11557A>T
c.4965A>T (p.Glu1655Asp)
c.4860A>T (p.Glu1620Asp)
c.4851A>T (p.Glu1617Asp)
c.4812A>T (p.Glu1604Asp)
c.4758A>T (p.Glu1586Asp)
c.4662A>T (p.Glu1554Asp)
c.4632A>T (p.Glu1544Asp)
c.4557A>T (p.Glu1519Asp)
c.4455A>T (p.Glu1485Asp)
c.4086A>T (p.Glu1362Asp)
 dbSNP
5g.112840530G>ACA16032141APCc.4990G>A (p.Gly1664Arg)
c.*4942G>A (n.*4942G>A)
c.4882G>A (p.Gly1628Arg)
c.4936G>A (p.Gly1646Arg)
c.*4258G>A (n.*4258G>A)
c.230+11558G>A
c.4966G>A (p.Gly1656Arg)
c.4861G>A (p.Gly1621Arg)
c.4852G>A (p.Gly1618Arg)
c.4813G>A (p.Gly1605Arg)
c.4759G>A (p.Gly1587Arg)
c.4663G>A (p.Gly1555Arg)
c.4633G>A (p.Gly1545Arg)
c.4558G>A (p.Gly1520Arg)
c.4456G>A (p.Gly1486Arg)
c.4087G>A (p.Gly1363Arg)
 dbSNP
5g.112840530G>CCA16032142APCc.4990G>C (p.Gly1664Arg)
c.*4942G>C (n.*4942G>C)
c.4882G>C (p.Gly1628Arg)
c.4936G>C (p.Gly1646Arg)
c.*4258G>C (n.*4258G>C)
c.230+11558G>C
c.4966G>C (p.Gly1656Arg)
c.4861G>C (p.Gly1621Arg)
c.4852G>C (p.Gly1618Arg)
c.4813G>C (p.Gly1605Arg)
c.4759G>C (p.Gly1587Arg)
c.4663G>C (p.Gly1555Arg)
c.4633G>C (p.Gly1545Arg)
c.4558G>C (p.Gly1520Arg)
c.4456G>C (p.Gly1486Arg)
c.4087G>C (p.Gly1363Arg)
 ClinVar dbSNP
5g.112840530G>TCA16032143APCc.4990G>T (p.Gly1664Trp)
c.*4942G>T (n.*4942G>T)
c.4882G>T (p.Gly1628Trp)
c.4936G>T (p.Gly1646Trp)
c.*4258G>T (n.*4258G>T)
c.230+11558G>T
c.4966G>T (p.Gly1656Trp)
c.4861G>T (p.Gly1621Trp)
c.4852G>T (p.Gly1618Trp)
c.4813G>T (p.Gly1605Trp)
c.4759G>T (p.Gly1587Trp)
c.4663G>T (p.Gly1555Trp)
c.4633G>T (p.Gly1545Trp)
c.4558G>T (p.Gly1520Trp)
c.4456G>T (p.Gly1486Trp)
c.4087G>T (p.Gly1363Trp)
 dbSNP
5g.112840532delCA2697546422APCc.4992del (p.Thr1665HisfsTer3)
c.*4944del (n.*4944del)
c.4884del (p.Thr1629HisfsTer3)
c.4938del (p.Thr1647HisfsTer3)
c.*4260del (n.*4260del)
c.230+11560del
c.4968del (p.Thr1657HisfsTer3)
c.4863del (p.Thr1622HisfsTer3)
c.4854del (p.Thr1619HisfsTer3)
c.4815del (p.Thr1606HisfsTer3)
c.4761del (p.Thr1588HisfsTer3)
c.4665del (p.Thr1556HisfsTer3)
c.4635del (p.Thr1546HisfsTer3)
c.4560del (p.Thr1521HisfsTer3)
c.4458del (p.Thr1487HisfsTer3)
c.4089del (p.Thr1364HisfsTer3)
 ClinVar
5g.112840531G>ACA16032144APCc.4991G>A (p.Gly1664Glu)
c.*4943G>A (n.*4943G>A)
c.4883G>A (p.Gly1628Glu)
c.4937G>A (p.Gly1646Glu)
c.*4259G>A (n.*4259G>A)
c.230+11559G>A
c.4967G>A (p.Gly1656Glu)
c.4862G>A (p.Gly1621Glu)
c.4853G>A (p.Gly1618Glu)
c.4814G>A (p.Gly1605Glu)
c.4760G>A (p.Gly1587Glu)
c.4664G>A (p.Gly1555Glu)
c.4634G>A (p.Gly1545Glu)
c.4559G>A (p.Gly1520Glu)
c.4457G>A (p.Gly1486Glu)
c.4088G>A (p.Gly1363Glu)
 gnomAD v4
5g.112840531G>CCA16032145APCc.4991G>C (p.Gly1664Ala)
c.*4943G>C (n.*4943G>C)
c.4883G>C (p.Gly1628Ala)
c.4937G>C (p.Gly1646Ala)
c.*4259G>C (n.*4259G>C)
c.230+11559G>C
c.4967G>C (p.Gly1656Ala)
c.4862G>C (p.Gly1621Ala)
c.4853G>C (p.Gly1618Ala)
c.4814G>C (p.Gly1605Ala)
c.4760G>C (p.Gly1587Ala)
c.4664G>C (p.Gly1555Ala)
c.4634G>C (p.Gly1545Ala)
c.4559G>C (p.Gly1520Ala)
c.4457G>C (p.Gly1486Ala)
c.4088G>C (p.Gly1363Ala)
5g.112840531G>TCA16032146APCc.4991G>T (p.Gly1664Val)
c.*4943G>T (n.*4943G>T)
c.4883G>T (p.Gly1628Val)
c.4937G>T (p.Gly1646Val)
c.*4259G>T (n.*4259G>T)
c.230+11559G>T
c.4967G>T (p.Gly1656Val)
c.4862G>T (p.Gly1621Val)
c.4853G>T (p.Gly1618Val)
c.4814G>T (p.Gly1605Val)
c.4760G>T (p.Gly1587Val)
c.4664G>T (p.Gly1555Val)
c.4634G>T (p.Gly1545Val)
c.4559G>T (p.Gly1520Val)
c.4457G>T (p.Gly1486Val)
c.4088G>T (p.Gly1363Val)
5g.112840532G>ACA446208705APCc.4992G>A (p.Gly1664=)
c.*4944G>A (n.*4944G>A)
c.4884G>A (p.Gly1628=)
c.4938G>A (p.Gly1646=)
c.*4260G>A (n.*4260G>A)
c.230+11560G>A
c.4968G>A (p.Gly1656=)
c.4863G>A (p.Gly1621=)
c.4854G>A (p.Gly1618=)
c.4815G>A (p.Gly1605=)
c.4761G>A (p.Gly1587=)
c.4665G>A (p.Gly1555=)
c.4635G>A (p.Gly1545=)
c.4560G>A (p.Gly1520=)
c.4458G>A (p.Gly1486=)
c.4089G>A (p.Gly1363=)
 ClinVar dbSNP
5g.112840532G>CCA446208707APCc.4992G>C (p.Gly1664=)
c.*4944G>C (n.*4944G>C)
c.4884G>C (p.Gly1628=)
c.4938G>C (p.Gly1646=)
c.*4260G>C (n.*4260G>C)
c.230+11560G>C
c.4968G>C (p.Gly1656=)
c.4863G>C (p.Gly1621=)
c.4854G>C (p.Gly1618=)
c.4815G>C (p.Gly1605=)
c.4761G>C (p.Gly1587=)
c.4665G>C (p.Gly1555=)
c.4635G>C (p.Gly1545=)
c.4560G>C (p.Gly1520=)
c.4458G>C (p.Gly1486=)
c.4089G>C (p.Gly1363=)
 dbSNP
5g.112840532G>TCA446208706APCc.4992G>T (p.Gly1664=)
c.*4944G>T (n.*4944G>T)
c.4884G>T (p.Gly1628=)
c.4938G>T (p.Gly1646=)
c.*4260G>T (n.*4260G>T)
c.230+11560G>T
c.4968G>T (p.Gly1656=)
c.4863G>T (p.Gly1621=)
c.4854G>T (p.Gly1618=)
c.4815G>T (p.Gly1605=)
c.4761G>T (p.Gly1587=)
c.4665G>T (p.Gly1555=)
c.4635G>T (p.Gly1545=)
c.4560G>T (p.Gly1520=)
c.4458G>T (p.Gly1486=)
c.4089G>T (p.Gly1363=)
 dbSNP
5g.112840533A=CA1573472563APCc.4993A= (p.Thr1665=)
c.*4945A= (n.*4945A=)
c.4885A= (p.Thr1629=)
c.4939A= (p.Thr1647=)
c.*4261A= (n.*4261A=)
c.230+11561A=
c.4969A= (p.Thr1657=)
c.4864A= (p.Thr1622=)
c.4855A= (p.Thr1619=)
c.4816A= (p.Thr1606=)
c.4762A= (p.Thr1588=)
c.4666A= (p.Thr1556=)
c.4636A= (p.Thr1546=)
c.4561A= (p.Thr1521=)
c.4459A= (p.Thr1487=)
c.4090A= (p.Thr1364=)
5g.112840533A>CCA16032147APCc.4993A>C (p.Thr1665Pro)
c.*4945A>C (n.*4945A>C)
c.4885A>C (p.Thr1629Pro)
c.4939A>C (p.Thr1647Pro)
c.*4261A>C (n.*4261A>C)
c.230+11561A>C
c.4969A>C (p.Thr1657Pro)
c.4864A>C (p.Thr1622Pro)
c.4855A>C (p.Thr1619Pro)
c.4816A>C (p.Thr1606Pro)
c.4762A>C (p.Thr1588Pro)
c.4666A>C (p.Thr1556Pro)
c.4636A>C (p.Thr1546Pro)
c.4561A>C (p.Thr1521Pro)
c.4459A>C (p.Thr1487Pro)
c.4090A>C (p.Thr1364Pro)
 dbSNP
5g.112840533A>GCA16032148APCc.4993A>G (p.Thr1665Ala)
c.*4945A>G (n.*4945A>G)
c.4885A>G (p.Thr1629Ala)
c.4939A>G (p.Thr1647Ala)
c.*4261A>G (n.*4261A>G)
c.230+11561A>G
c.4969A>G (p.Thr1657Ala)
c.4864A>G (p.Thr1622Ala)
c.4855A>G (p.Thr1619Ala)
c.4816A>G (p.Thr1606Ala)
c.4762A>G (p.Thr1588Ala)
c.4666A>G (p.Thr1556Ala)
c.4636A>G (p.Thr1546Ala)
c.4561A>G (p.Thr1521Ala)
c.4459A>G (p.Thr1487Ala)
c.4090A>G (p.Thr1364Ala)
 ClinVar dbSNP
5g.112840533A>TCA10578386APCc.4993A>T (p.Thr1665Ser)
c.*4945A>T (n.*4945A>T)
c.4885A>T (p.Thr1629Ser)
c.4939A>T (p.Thr1647Ser)
c.*4261A>T (n.*4261A>T)
c.230+11561A>T
c.4969A>T (p.Thr1657Ser)
c.4864A>T (p.Thr1622Ser)
c.4855A>T (p.Thr1619Ser)
c.4816A>T (p.Thr1606Ser)
c.4762A>T (p.Thr1588Ser)
c.4666A>T (p.Thr1556Ser)
c.4636A>T (p.Thr1546Ser)
c.4561A>T (p.Thr1521Ser)
c.4459A>T (p.Thr1487Ser)
c.4090A>T (p.Thr1364Ser)
 ClinVar dbSNP
5g.112840534C>ACA16032149APCc.4994C>A (p.Thr1665Lys)
c.*4946C>A (n.*4946C>A)
c.4886C>A (p.Thr1629Lys)
c.4940C>A (p.Thr1647Lys)
c.*4262C>A (n.*4262C>A)
c.230+11562C>A
c.4970C>A (p.Thr1657Lys)
c.4865C>A (p.Thr1622Lys)
c.4856C>A (p.Thr1619Lys)
c.4817C>A (p.Thr1606Lys)
c.4763C>A (p.Thr1588Lys)
c.4667C>A (p.Thr1556Lys)
c.4637C>A (p.Thr1546Lys)
c.4562C>A (p.Thr1521Lys)
c.4460C>A (p.Thr1487Lys)
c.4091C>A (p.Thr1364Lys)
 ClinVar dbSNP
5g.112840534C>GCA16032150APCc.4994C>G (p.Thr1665Arg)
c.*4946C>G (n.*4946C>G)
c.4886C>G (p.Thr1629Arg)
c.4940C>G (p.Thr1647Arg)
c.*4262C>G (n.*4262C>G)
c.230+11562C>G
c.4970C>G (p.Thr1657Arg)
c.4865C>G (p.Thr1622Arg)
c.4856C>G (p.Thr1619Arg)
c.4817C>G (p.Thr1606Arg)
c.4763C>G (p.Thr1588Arg)
c.4667C>G (p.Thr1556Arg)
c.4637C>G (p.Thr1546Arg)
c.4562C>G (p.Thr1521Arg)
c.4460C>G (p.Thr1487Arg)
c.4091C>G (p.Thr1364Arg)
 dbSNP
5g.112840534C>TCA16032151APCc.4994C>T (p.Thr1665Ile)
c.*4946C>T (n.*4946C>T)
c.4886C>T (p.Thr1629Ile)
c.4940C>T (p.Thr1647Ile)
c.*4262C>T (n.*4262C>T)
c.230+11562C>T
c.4970C>T (p.Thr1657Ile)
c.4865C>T (p.Thr1622Ile)
c.4856C>T (p.Thr1619Ile)
c.4817C>T (p.Thr1606Ile)
c.4763C>T (p.Thr1588Ile)
c.4667C>T (p.Thr1556Ile)
c.4637C>T (p.Thr1546Ile)
c.4562C>T (p.Thr1521Ile)
c.4460C>T (p.Thr1487Ile)
c.4091C>T (p.Thr1364Ile)
 dbSNP
5g.112840535A=CA1573472574APCc.4995A= (p.Thr1665=)
c.*4947A= (n.*4947A=)
c.4887A= (p.Thr1629=)
c.4941A= (p.Thr1647=)
c.*4263A= (n.*4263A=)
c.230+11563A=
c.4971A= (p.Thr1657=)
c.4866A= (p.Thr1622=)
c.4857A= (p.Thr1619=)
c.4818A= (p.Thr1606=)
c.4764A= (p.Thr1588=)
c.4668A= (p.Thr1556=)
c.4638A= (p.Thr1546=)
c.4563A= (p.Thr1521=)
c.4461A= (p.Thr1487=)
c.4092A= (p.Thr1364=)
5g.112840535A>CCA446208708APCc.4995A>C (p.Thr1665=)
c.*4947A>C (n.*4947A>C)
c.4887A>C (p.Thr1629=)
c.4941A>C (p.Thr1647=)
c.*4263A>C (n.*4263A>C)
c.230+11563A>C
c.4971A>C (p.Thr1657=)
c.4866A>C (p.Thr1622=)
c.4857A>C (p.Thr1619=)
c.4818A>C (p.Thr1606=)
c.4764A>C (p.Thr1588=)
c.4668A>C (p.Thr1556=)
c.4638A>C (p.Thr1546=)
c.4563A>C (p.Thr1521=)
c.4461A>C (p.Thr1487=)
c.4092A>C (p.Thr1364=)
 ClinVar dbSNP gnomAD v4
5g.112840535A>GCA10578387APCc.4995A>G (p.Thr1665=)
c.*4947A>G (n.*4947A>G)
c.4887A>G (p.Thr1629=)
c.4941A>G (p.Thr1647=)
c.*4263A>G (n.*4263A>G)
c.230+11563A>G
c.4971A>G (p.Thr1657=)
c.4866A>G (p.Thr1622=)
c.4857A>G (p.Thr1619=)
c.4818A>G (p.Thr1606=)
c.4764A>G (p.Thr1588=)
c.4668A>G (p.Thr1556=)
c.4638A>G (p.Thr1546=)
c.4563A>G (p.Thr1521=)
c.4461A>G (p.Thr1487=)
c.4092A>G (p.Thr1364=)
 ClinVar dbSNP
5g.112840535A>TCA446208709APCc.4995A>T (p.Thr1665=)
c.*4947A>T (n.*4947A>T)
c.4887A>T (p.Thr1629=)
c.4941A>T (p.Thr1647=)
c.*4263A>T (n.*4263A>T)
c.230+11563A>T
c.4971A>T (p.Thr1657=)
c.4866A>T (p.Thr1622=)
c.4857A>T (p.Thr1619=)
c.4818A>T (p.Thr1606=)
c.4764A>T (p.Thr1588=)
c.4668A>T (p.Thr1556=)
c.4638A>T (p.Thr1546=)
c.4563A>T (p.Thr1521=)
c.4461A>T (p.Thr1487=)
c.4092A>T (p.Thr1364=)
5g.112840536C>ACA16032152APCc.4996C>A (p.Pro1666Thr)
c.*4948C>A (n.*4948C>A)
c.4888C>A (p.Pro1630Thr)
c.4942C>A (p.Pro1648Thr)
c.*4264C>A (n.*4264C>A)
c.230+11564C>A
c.4972C>A (p.Pro1658Thr)
c.4867C>A (p.Pro1623Thr)
c.4858C>A (p.Pro1620Thr)
c.4819C>A (p.Pro1607Thr)
c.4765C>A (p.Pro1589Thr)
c.4669C>A (p.Pro1557Thr)
c.4639C>A (p.Pro1547Thr)
c.4564C>A (p.Pro1522Thr)
c.4462C>A (p.Pro1488Thr)
c.4093C>A (p.Pro1365Thr)
 dbSNP
5g.112840536C=CA1573472575APCc.4996C= (p.Pro1666=)
c.*4948C= (n.*4948C=)
c.4888C= (p.Pro1630=)
c.4942C= (p.Pro1648=)
c.*4264C= (n.*4264C=)
c.230+11564C=
c.4972C= (p.Pro1658=)
c.4867C= (p.Pro1623=)
c.4858C= (p.Pro1620=)
c.4819C= (p.Pro1607=)
c.4765C= (p.Pro1589=)
c.4669C= (p.Pro1557=)
c.4639C= (p.Pro1547=)
c.4564C= (p.Pro1522=)
c.4462C= (p.Pro1488=)
c.4093C= (p.Pro1365=)
5g.112840536C>GCA16032153APCc.4996C>G (p.Pro1666Ala)
c.*4948C>G (n.*4948C>G)
c.4888C>G (p.Pro1630Ala)
c.4942C>G (p.Pro1648Ala)
c.*4264C>G (n.*4264C>G)
c.230+11564C>G
c.4972C>G (p.Pro1658Ala)
c.4867C>G (p.Pro1623Ala)
c.4858C>G (p.Pro1620Ala)
c.4819C>G (p.Pro1607Ala)
c.4765C>G (p.Pro1589Ala)
c.4669C>G (p.Pro1557Ala)
c.4639C>G (p.Pro1547Ala)
c.4564C>G (p.Pro1522Ala)
c.4462C>G (p.Pro1488Ala)
c.4093C>G (p.Pro1365Ala)
 dbSNP COSMIC
5g.112840536C>TCA16032154APCc.4996C>T (p.Pro1666Ser)
c.*4948C>T (n.*4948C>T)
c.4888C>T (p.Pro1630Ser)
c.4942C>T (p.Pro1648Ser)
c.*4264C>T (n.*4264C>T)
c.230+11564C>T
c.4972C>T (p.Pro1658Ser)
c.4867C>T (p.Pro1623Ser)
c.4858C>T (p.Pro1620Ser)
c.4819C>T (p.Pro1607Ser)
c.4765C>T (p.Pro1589Ser)
c.4669C>T (p.Pro1557Ser)
c.4639C>T (p.Pro1547Ser)
c.4564C>T (p.Pro1522Ser)
c.4462C>T (p.Pro1488Ser)
c.4093C>T (p.Pro1365Ser)
 ClinVar dbSNP
5g.112840537C>ACA16032155APCc.4997C>A (p.Pro1666His)
c.*4949C>A (n.*4949C>A)
c.4889C>A (p.Pro1630His)
c.4943C>A (p.Pro1648His)
c.*4265C>A (n.*4265C>A)
c.230+11565C>A
c.4973C>A (p.Pro1658His)
c.4868C>A (p.Pro1623His)
c.4859C>A (p.Pro1620His)
c.4820C>A (p.Pro1607His)
c.4766C>A (p.Pro1589His)
c.4670C>A (p.Pro1557His)
c.4640C>A (p.Pro1547His)
c.4565C>A (p.Pro1522His)
c.4463C>A (p.Pro1488His)
c.4094C>A (p.Pro1365His)
 ClinVar dbSNP
5g.112840537C>GCA16032156APCc.4997C>G (p.Pro1666Arg)
c.*4949C>G (n.*4949C>G)
c.4889C>G (p.Pro1630Arg)
c.4943C>G (p.Pro1648Arg)
c.*4265C>G (n.*4265C>G)
c.230+11565C>G
c.4973C>G (p.Pro1658Arg)
c.4868C>G (p.Pro1623Arg)
c.4859C>G (p.Pro1620Arg)
c.4820C>G (p.Pro1607Arg)
c.4766C>G (p.Pro1589Arg)
c.4670C>G (p.Pro1557Arg)
c.4640C>G (p.Pro1547Arg)
c.4565C>G (p.Pro1522Arg)
c.4463C>G (p.Pro1488Arg)
c.4094C>G (p.Pro1365Arg)
 ClinVar dbSNP
5g.112840537C>TCA16032157APCc.4997C>T (p.Pro1666Leu)
c.*4949C>T (n.*4949C>T)
c.4889C>T (p.Pro1630Leu)
c.4943C>T (p.Pro1648Leu)
c.*4265C>T (n.*4265C>T)
c.230+11565C>T
c.4973C>T (p.Pro1658Leu)
c.4868C>T (p.Pro1623Leu)
c.4859C>T (p.Pro1620Leu)
c.4820C>T (p.Pro1607Leu)
c.4766C>T (p.Pro1589Leu)
c.4670C>T (p.Pro1557Leu)
c.4640C>T (p.Pro1547Leu)
c.4565C>T (p.Pro1522Leu)
c.4463C>T (p.Pro1488Leu)
c.4094C>T (p.Pro1365Leu)
 ClinVar dbSNP
5g.112840537_112840538delCA2582341398APCc.4997_4998del (p.Pro1666HisfsTer11)
c.*4949_*4950del (n.*4949_*4950del)
c.4889_4890del (p.Pro1630HisfsTer11)
c.4943_4944del (p.Pro1648HisfsTer11)
c.*4265_*4266del (n.*4265_*4266del)
c.230+11565_230+11566del
c.4973_4974del (p.Pro1658HisfsTer11)
c.4868_4869del (p.Pro1623HisfsTer11)
c.4859_4860del (p.Pro1620HisfsTer11)
c.4820_4821del (p.Pro1607HisfsTer11)
c.4766_4767del (p.Pro1589HisfsTer11)
c.4670_4671del (p.Pro1557HisfsTer11)
c.4640_4641del (p.Pro1547HisfsTer11)
c.4565_4566del (p.Pro1522HisfsTer11)
c.4463_4464del (p.Pro1488HisfsTer11)
c.4094_4095del (p.Pro1365HisfsTer11)
 ClinVar
5g.112840538T>ACA446208710APCc.4998T>A (p.Pro1666=)
c.*4950T>A (n.*4950T>A)
c.4890T>A (p.Pro1630=)
c.4944T>A (p.Pro1648=)
c.*4266T>A (n.*4266T>A)
c.230+11566T>A
c.4974T>A (p.Pro1658=)
c.4869T>A (p.Pro1623=)
c.4860T>A (p.Pro1620=)
c.4821T>A (p.Pro1607=)
c.4767T>A (p.Pro1589=)
c.4671T>A (p.Pro1557=)
c.4641T>A (p.Pro1547=)
c.4566T>A (p.Pro1522=)
c.4464T>A (p.Pro1488=)
c.4095T>A (p.Pro1365=)
 dbSNP
5g.112840538T>CCA446208711APCc.4998T>C (p.Pro1666=)
c.*4950T>C (n.*4950T>C)
c.4890T>C (p.Pro1630=)
c.4944T>C (p.Pro1648=)
c.*4266T>C (n.*4266T>C)
c.230+11566T>C
c.4974T>C (p.Pro1658=)
c.4869T>C (p.Pro1623=)
c.4860T>C (p.Pro1620=)
c.4821T>C (p.Pro1607=)
c.4767T>C (p.Pro1589=)
c.4671T>C (p.Pro1557=)
c.4641T>C (p.Pro1547=)
c.4566T>C (p.Pro1522=)
c.4464T>C (p.Pro1488=)
c.4095T>C (p.Pro1365=)
 ClinVar dbSNP
5g.112840538T>GCA446208712APCc.4998T>G (p.Pro1666=)
c.*4950T>G (n.*4950T>G)
c.4890T>G (p.Pro1630=)
c.4944T>G (p.Pro1648=)
c.*4266T>G (n.*4266T>G)
c.230+11566T>G
c.4974T>G (p.Pro1658=)
c.4869T>G (p.Pro1623=)
c.4860T>G (p.Pro1620=)
c.4821T>G (p.Pro1607=)
c.4767T>G (p.Pro1589=)
c.4671T>G (p.Pro1557=)
c.4641T>G (p.Pro1547=)
c.4566T>G (p.Pro1522=)
c.4464T>G (p.Pro1488=)
c.4095T>G (p.Pro1365=)
 dbSNP
5g.112840538T=CA1573472579APCc.4998T= (p.Pro1666=)
c.*4950T= (n.*4950T=)
c.4890T= (p.Pro1630=)
c.4944T= (p.Pro1648=)
c.*4266T= (n.*4266T=)
c.230+11566T=
c.4974T= (p.Pro1658=)
c.4869T= (p.Pro1623=)
c.4860T= (p.Pro1620=)
c.4821T= (p.Pro1607=)
c.4767T= (p.Pro1589=)
c.4671T= (p.Pro1557=)
c.4641T= (p.Pro1547=)
c.4566T= (p.Pro1522=)
c.4464T= (p.Pro1488=)
c.4095T= (p.Pro1365=)
5g.112840539A=CA1573472598APCc.4999A= (p.Ile1667=)
c.*4951A= (n.*4951A=)
c.4891A= (p.Ile1631=)
c.4945A= (p.Ile1649=)
c.*4267A= (n.*4267A=)
c.230+11567A=
c.4975A= (p.Ile1659=)
c.4870A= (p.Ile1624=)
c.4861A= (p.Ile1621=)
c.4822A= (p.Ile1608=)
c.4768A= (p.Ile1590=)
c.4672A= (p.Ile1558=)
c.4642A= (p.Ile1548=)
c.4567A= (p.Ile1523=)
c.4465A= (p.Ile1489=)
c.4096A= (p.Ile1366=)
5g.112840539A>CCA16032158APCc.4999A>C (p.Ile1667Leu)
c.*4951A>C (n.*4951A>C)
c.4891A>C (p.Ile1631Leu)
c.4945A>C (p.Ile1649Leu)
c.*4267A>C (n.*4267A>C)
c.230+11567A>C
c.4975A>C (p.Ile1659Leu)
c.4870A>C (p.Ile1624Leu)
c.4861A>C (p.Ile1621Leu)
c.4822A>C (p.Ile1608Leu)
c.4768A>C (p.Ile1590Leu)
c.4672A>C (p.Ile1558Leu)
c.4642A>C (p.Ile1548Leu)
c.4567A>C (p.Ile1523Leu)
c.4465A>C (p.Ile1489Leu)
c.4096A>C (p.Ile1366Leu)
 dbSNP
5g.112840539A>GCA040254APCc.4999A>G (p.Ile1667Val)
c.*4951A>G (n.*4951A>G)
c.4891A>G (p.Ile1631Val)
c.4945A>G (p.Ile1649Val)
c.*4267A>G (n.*4267A>G)
c.230+11567A>G
c.4975A>G (p.Ile1659Val)
c.4870A>G (p.Ile1624Val)
c.4861A>G (p.Ile1621Val)
c.4822A>G (p.Ile1608Val)
c.4768A>G (p.Ile1590Val)
c.4672A>G (p.Ile1558Val)
c.4642A>G (p.Ile1548Val)
c.4567A>G (p.Ile1523Val)
c.4465A>G (p.Ile1489Val)
c.4096A>G (p.Ile1366Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840539A>TCA16032159APCc.4999A>T (p.Ile1667Leu)
c.*4951A>T (n.*4951A>T)
c.4891A>T (p.Ile1631Leu)
c.4945A>T (p.Ile1649Leu)
c.*4267A>T (n.*4267A>T)
c.230+11567A>T
c.4975A>T (p.Ile1659Leu)
c.4870A>T (p.Ile1624Leu)
c.4861A>T (p.Ile1621Leu)
c.4822A>T (p.Ile1608Leu)
c.4768A>T (p.Ile1590Leu)
c.4672A>T (p.Ile1558Leu)
c.4642A>T (p.Ile1548Leu)
c.4567A>T (p.Ile1523Leu)
c.4465A>T (p.Ile1489Leu)
c.4096A>T (p.Ile1366Leu)
 dbSNP
5g.112840539dupCA2499217492APCc.4999dup (p.Ile1667AsnfsTer11)
c.*4951dup (n.*4951dup)
c.4891dup (p.Ile1631AsnfsTer11)
c.4945dup (p.Ile1649AsnfsTer11)
c.*4267dup (n.*4267dup)
c.230+11567dup
c.4975dup (p.Ile1659AsnfsTer11)
c.4870dup (p.Ile1624AsnfsTer11)
c.4861dup (p.Ile1621AsnfsTer11)
c.4822dup (p.Ile1608AsnfsTer11)
c.4768dup (p.Ile1590AsnfsTer11)
c.4672dup (p.Ile1558AsnfsTer11)
c.4642dup (p.Ile1548AsnfsTer11)
c.4567dup (p.Ile1523AsnfsTer11)
c.4465dup (p.Ile1489AsnfsTer11)
c.4096dup (p.Ile1366AsnfsTer11)
 ClinVar dbSNP
5g.112840540T>ACA16032160APCc.5000T>A (p.Ile1667Lys)
c.*4952T>A (n.*4952T>A)
c.4892T>A (p.Ile1631Lys)
c.4946T>A (p.Ile1649Lys)
c.*4268T>A (n.*4268T>A)
c.230+11568T>A
c.4976T>A (p.Ile1659Lys)
c.4871T>A (p.Ile1624Lys)
c.4862T>A (p.Ile1621Lys)
c.4823T>A (p.Ile1608Lys)
c.4769T>A (p.Ile1590Lys)
c.4673T>A (p.Ile1558Lys)
c.4643T>A (p.Ile1548Lys)
c.4568T>A (p.Ile1523Lys)
c.4466T>A (p.Ile1489Lys)
c.4097T>A (p.Ile1366Lys)
5g.112840540T>CCA16032161APCc.5000T>C (p.Ile1667Thr)
c.*4952T>C (n.*4952T>C)
c.4892T>C (p.Ile1631Thr)
c.4946T>C (p.Ile1649Thr)
c.*4268T>C (n.*4268T>C)
c.230+11568T>C
c.4976T>C (p.Ile1659Thr)
c.4871T>C (p.Ile1624Thr)
c.4862T>C (p.Ile1621Thr)
c.4823T>C (p.Ile1608Thr)
c.4769T>C (p.Ile1590Thr)
c.4673T>C (p.Ile1558Thr)
c.4643T>C (p.Ile1548Thr)
c.4568T>C (p.Ile1523Thr)
c.4466T>C (p.Ile1489Thr)
c.4097T>C (p.Ile1366Thr)
 dbSNP
5g.112840540T>GCA16032162APCc.5000T>G (p.Ile1667Arg)
c.*4952T>G (n.*4952T>G)
c.4892T>G (p.Ile1631Arg)
c.4946T>G (p.Ile1649Arg)
c.*4268T>G (n.*4268T>G)
c.230+11568T>G
c.4976T>G (p.Ile1659Arg)
c.4871T>G (p.Ile1624Arg)
c.4862T>G (p.Ile1621Arg)
c.4823T>G (p.Ile1608Arg)
c.4769T>G (p.Ile1590Arg)
c.4673T>G (p.Ile1558Arg)
c.4643T>G (p.Ile1548Arg)
c.4568T>G (p.Ile1523Arg)
c.4466T>G (p.Ile1489Arg)
c.4097T>G (p.Ile1366Arg)
 dbSNP
5g.112840540T=CA1573472609APCc.5000T= (p.Ile1667=)
c.*4952T= (n.*4952T=)
c.4892T= (p.Ile1631=)
c.4946T= (p.Ile1649=)
c.*4268T= (n.*4268T=)
c.230+11568T=
c.4976T= (p.Ile1659=)
c.4871T= (p.Ile1624=)
c.4862T= (p.Ile1621=)
c.4823T= (p.Ile1608=)
c.4769T= (p.Ile1590=)
c.4673T= (p.Ile1558=)
c.4643T= (p.Ile1548=)
c.4568T= (p.Ile1523=)
c.4466T= (p.Ile1489=)
c.4097T= (p.Ile1366=)
5g.112840541A=CA1573472614APCc.5001A= (p.Ile1667=)
c.*4953A= (n.*4953A=)
c.4893A= (p.Ile1631=)
c.4947A= (p.Ile1649=)
c.*4269A= (n.*4269A=)
c.230+11569A=
c.4977A= (p.Ile1659=)
c.4872A= (p.Ile1624=)
c.4863A= (p.Ile1621=)
c.4824A= (p.Ile1608=)
c.4770A= (p.Ile1590=)
c.4674A= (p.Ile1558=)
c.4644A= (p.Ile1548=)
c.4569A= (p.Ile1523=)
c.4467A= (p.Ile1489=)
c.4098A= (p.Ile1366=)
5g.112840541A>CCA446208713APCc.5001A>C (p.Ile1667=)
c.*4953A>C (n.*4953A>C)
c.4893A>C (p.Ile1631=)
c.4947A>C (p.Ile1649=)
c.*4269A>C (n.*4269A>C)
c.230+11569A>C
c.4977A>C (p.Ile1659=)
c.4872A>C (p.Ile1624=)
c.4863A>C (p.Ile1621=)
c.4824A>C (p.Ile1608=)
c.4770A>C (p.Ile1590=)
c.4674A>C (p.Ile1558=)
c.4644A>C (p.Ile1548=)
c.4569A>C (p.Ile1523=)
c.4467A>C (p.Ile1489=)
c.4098A>C (p.Ile1366=)
 ClinVar dbSNP
5g.112840541A>GCA16032163APCc.5001A>G (p.Ile1667Met)
c.*4953A>G (n.*4953A>G)
c.4893A>G (p.Ile1631Met)
c.4947A>G (p.Ile1649Met)
c.*4269A>G (n.*4269A>G)
c.230+11569A>G
c.4977A>G (p.Ile1659Met)
c.4872A>G (p.Ile1624Met)
c.4863A>G (p.Ile1621Met)
c.4824A>G (p.Ile1608Met)
c.4770A>G (p.Ile1590Met)
c.4674A>G (p.Ile1558Met)
c.4644A>G (p.Ile1548Met)
c.4569A>G (p.Ile1523Met)
c.4467A>G (p.Ile1489Met)
c.4098A>G (p.Ile1366Met)
 ClinVar
5g.112840541A>TCA446208714APCc.5001A>T (p.Ile1667=)
c.*4953A>T (n.*4953A>T)
c.4893A>T (p.Ile1631=)
c.4947A>T (p.Ile1649=)
c.*4269A>T (n.*4269A>T)
c.230+11569A>T
c.4977A>T (p.Ile1659=)
c.4872A>T (p.Ile1624=)
c.4863A>T (p.Ile1621=)
c.4824A>T (p.Ile1608=)
c.4770A>T (p.Ile1590=)
c.4674A>T (p.Ile1558=)
c.4644A>T (p.Ile1548=)
c.4569A>T (p.Ile1523=)
c.4467A>T (p.Ile1489=)
c.4098A>T (p.Ile1366=)
 ClinVar dbSNP
5g.112840542A=CA1573472621APCc.5002A= (p.Asn1668=)
c.*4954A= (n.*4954A=)
c.4894A= (p.Asn1632=)
c.4948A= (p.Asn1650=)
c.*4270A= (n.*4270A=)
c.230+11570A=
c.4978A= (p.Asn1660=)
c.4873A= (p.Asn1625=)
c.4864A= (p.Asn1622=)
c.4825A= (p.Asn1609=)
c.4771A= (p.Asn1591=)
c.4675A= (p.Asn1559=)
c.4645A= (p.Asn1549=)
c.4570A= (p.Asn1524=)
c.4468A= (p.Asn1490=)
c.4099A= (p.Asn1367=)
5g.112840542A>CCA16032164APCc.5002A>C (p.Asn1668His)
c.*4954A>C (n.*4954A>C)
c.4894A>C (p.Asn1632His)
c.4948A>C (p.Asn1650His)
c.*4270A>C (n.*4270A>C)
c.230+11570A>C
c.4978A>C (p.Asn1660His)
c.4873A>C (p.Asn1625His)
c.4864A>C (p.Asn1622His)
c.4825A>C (p.Asn1609His)
c.4771A>C (p.Asn1591His)
c.4675A>C (p.Asn1559His)
c.4645A>C (p.Asn1549His)
c.4570A>C (p.Asn1524His)
c.4468A>C (p.Asn1490His)
c.4099A>C (p.Asn1367His)
 dbSNP
5g.112840542A>GCA16032165APCc.5002A>G (p.Asn1668Asp)
c.*4954A>G (n.*4954A>G)
c.4894A>G (p.Asn1632Asp)
c.4948A>G (p.Asn1650Asp)
c.*4270A>G (n.*4270A>G)
c.230+11570A>G
c.4978A>G (p.Asn1660Asp)
c.4873A>G (p.Asn1625Asp)
c.4864A>G (p.Asn1622Asp)
c.4825A>G (p.Asn1609Asp)
c.4771A>G (p.Asn1591Asp)
c.4675A>G (p.Asn1559Asp)
c.4645A>G (p.Asn1549Asp)
c.4570A>G (p.Asn1524Asp)
c.4468A>G (p.Asn1490Asp)
c.4099A>G (p.Asn1367Asp)
 dbSNP gnomAD v3 gnomAD v4
5g.112840542A>TCA16032166APCc.5002A>T (p.Asn1668Tyr)
c.*4954A>T (n.*4954A>T)
c.4894A>T (p.Asn1632Tyr)
c.4948A>T (p.Asn1650Tyr)
c.*4270A>T (n.*4270A>T)
c.230+11570A>T
c.4978A>T (p.Asn1660Tyr)
c.4873A>T (p.Asn1625Tyr)
c.4864A>T (p.Asn1622Tyr)
c.4825A>T (p.Asn1609Tyr)
c.4771A>T (p.Asn1591Tyr)
c.4675A>T (p.Asn1559Tyr)
c.4645A>T (p.Asn1549Tyr)
c.4570A>T (p.Asn1524Tyr)
c.4468A>T (p.Asn1490Tyr)
c.4099A>T (p.Asn1367Tyr)
 ClinVar dbSNP
5g.112840543A=CA1573472630APCc.5003A= (p.Asn1668=)
c.*4955A= (n.*4955A=)
c.4895A= (p.Asn1632=)
c.4949A= (p.Asn1650=)
c.*4271A= (n.*4271A=)
c.230+11571A=
c.4979A= (p.Asn1660=)
c.4874A= (p.Asn1625=)
c.4865A= (p.Asn1622=)
c.4826A= (p.Asn1609=)
c.4772A= (p.Asn1591=)
c.4676A= (p.Asn1559=)
c.4646A= (p.Asn1549=)
c.4571A= (p.Asn1524=)
c.4469A= (p.Asn1490=)
c.4100A= (p.Asn1367=)
5g.112840543A>CCA16032167APCc.5003A>C (p.Asn1668Thr)
c.*4955A>C (n.*4955A>C)
c.4895A>C (p.Asn1632Thr)
c.4949A>C (p.Asn1650Thr)
c.*4271A>C (n.*4271A>C)
c.230+11571A>C
c.4979A>C (p.Asn1660Thr)
c.4874A>C (p.Asn1625Thr)
c.4865A>C (p.Asn1622Thr)
c.4826A>C (p.Asn1609Thr)
c.4772A>C (p.Asn1591Thr)
c.4676A>C (p.Asn1559Thr)
c.4646A>C (p.Asn1549Thr)
c.4571A>C (p.Asn1524Thr)
c.4469A>C (p.Asn1490Thr)
c.4100A>C (p.Asn1367Thr)
 dbSNP
5g.112840543A>GCA040262APCc.5003A>G (p.Asn1668Ser)
c.*4955A>G (n.*4955A>G)
c.4895A>G (p.Asn1632Ser)
c.4949A>G (p.Asn1650Ser)
c.*4271A>G (n.*4271A>G)
c.230+11571A>G
c.4979A>G (p.Asn1660Ser)
c.4874A>G (p.Asn1625Ser)
c.4865A>G (p.Asn1622Ser)
c.4826A>G (p.Asn1609Ser)
c.4772A>G (p.Asn1591Ser)
c.4676A>G (p.Asn1559Ser)
c.4646A>G (p.Asn1549Ser)
c.4571A>G (p.Asn1524Ser)
c.4469A>G (p.Asn1490Ser)
c.4100A>G (p.Asn1367Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840543A>TCA16032168APCc.5003A>T (p.Asn1668Ile)
c.*4955A>T (n.*4955A>T)
c.4895A>T (p.Asn1632Ile)
c.4949A>T (p.Asn1650Ile)
c.*4271A>T (n.*4271A>T)
c.230+11571A>T
c.4979A>T (p.Asn1660Ile)
c.4874A>T (p.Asn1625Ile)
c.4865A>T (p.Asn1622Ile)
c.4826A>T (p.Asn1609Ile)
c.4772A>T (p.Asn1591Ile)
c.4676A>T (p.Asn1559Ile)
c.4646A>T (p.Asn1549Ile)
c.4571A>T (p.Asn1524Ile)
c.4469A>T (p.Asn1490Ile)
c.4100A>T (p.Asn1367Ile)
 ClinVar dbSNP gnomAD v4
5g.112840544C>ACA16032169APCc.5004C>A (p.Asn1668Lys)
c.*4956C>A (n.*4956C>A)
c.4896C>A (p.Asn1632Lys)
c.4950C>A (p.Asn1650Lys)
c.*4272C>A (n.*4272C>A)
c.230+11572C>A
c.4980C>A (p.Asn1660Lys)
c.4875C>A (p.Asn1625Lys)
c.4866C>A (p.Asn1622Lys)
c.4827C>A (p.Asn1609Lys)
c.4773C>A (p.Asn1591Lys)
c.4677C>A (p.Asn1559Lys)
c.4647C>A (p.Asn1549Lys)
c.4572C>A (p.Asn1524Lys)
c.4470C>A (p.Asn1490Lys)
c.4101C>A (p.Asn1367Lys)
 dbSNP
5g.112840544C>GCA16032170APCc.5004C>G (p.Asn1668Lys)
c.*4956C>G (n.*4956C>G)
c.4896C>G (p.Asn1632Lys)
c.4950C>G (p.Asn1650Lys)
c.*4272C>G (n.*4272C>G)
c.230+11572C>G
c.4980C>G (p.Asn1660Lys)
c.4875C>G (p.Asn1625Lys)
c.4866C>G (p.Asn1622Lys)
c.4827C>G (p.Asn1609Lys)
c.4773C>G (p.Asn1591Lys)
c.4677C>G (p.Asn1559Lys)
c.4647C>G (p.Asn1549Lys)
c.4572C>G (p.Asn1524Lys)
c.4470C>G (p.Asn1490Lys)
c.4101C>G (p.Asn1367Lys)
 dbSNP
5g.112840544C>TCA446208715APCc.5004C>T (p.Asn1668=)
c.*4956C>T (n.*4956C>T)
c.4896C>T (p.Asn1632=)
c.4950C>T (p.Asn1650=)
c.*4272C>T (n.*4272C>T)
c.230+11572C>T
c.4980C>T (p.Asn1660=)
c.4875C>T (p.Asn1625=)
c.4866C>T (p.Asn1622=)
c.4827C>T (p.Asn1609=)
c.4773C>T (p.Asn1591=)
c.4677C>T (p.Asn1559=)
c.4647C>T (p.Asn1549=)
c.4572C>T (p.Asn1524=)
c.4470C>T (p.Asn1490=)
c.4101C>T (p.Asn1367=)
 dbSNP gnomAD v4
5g.112840544_112840545dupCA658655956APCc.5004_5005dup (p.Phe1669SerfsTer8)
c.*4956_*4957dup (n.*4956_*4957dup)
c.4896_4897dup (p.Phe1633SerfsTer8)
c.4950_4951dup (p.Phe1651SerfsTer8)
c.*4272_*4273dup (n.*4272_*4273dup)
c.230+11572_230+11573dup
c.4980_4981dup (p.Phe1661SerfsTer8)
c.4875_4876dup (p.Phe1626SerfsTer8)
c.4866_4867dup (p.Phe1623SerfsTer8)
c.4827_4828dup (p.Phe1610SerfsTer8)
c.4773_4774dup (p.Phe1592SerfsTer8)
c.4677_4678dup (p.Phe1560SerfsTer8)
c.4647_4648dup (p.Phe1550SerfsTer8)
c.4572_4573dup (p.Phe1525SerfsTer8)
c.4470_4471dup (p.Phe1491SerfsTer8)
c.4101_4102dup (p.Phe1368SerfsTer8)
 ClinVar dbSNP
5g.112840544_112840546delinsCTTCA1573472636APCc.5004_5006delinsCTT (p.Asn1668=)
c.*4956_*4958delinsCTT (n.*4956_*4958delinsCTT)
c.4896_4898delinsCTT (p.Asn1632=)
c.4950_4952delinsCTT (p.Asn1650=)
c.*4272_*4274delinsCTT (n.*4272_*4274delinsCTT)
c.230+11572_230+11574delinsCTT
c.4980_4982delinsCTT (p.Asn1660=)
c.4875_4877delinsCTT (p.Asn1625=)
c.4866_4868delinsCTT (p.Asn1622=)
c.4827_4829delinsCTT (p.Asn1609=)
c.4773_4775delinsCTT (p.Asn1591=)
c.4677_4679delinsCTT (p.Asn1559=)
c.4647_4649delinsCTT (p.Asn1549=)
c.4572_4574delinsCTT (p.Asn1524=)
c.4470_4472delinsCTT (p.Asn1490=)
c.4101_4103delinsCTT (p.Asn1367=)
5g.112840545T>ACA16032171APCc.5005T>A (p.Phe1669Ile)
c.*4957T>A (n.*4957T>A)
c.4897T>A (p.Phe1633Ile)
c.4951T>A (p.Phe1651Ile)
c.*4273T>A (n.*4273T>A)
c.230+11573T>A
c.4981T>A (p.Phe1661Ile)
c.4876T>A (p.Phe1626Ile)
c.4867T>A (p.Phe1623Ile)
c.4828T>A (p.Phe1610Ile)
c.4774T>A (p.Phe1592Ile)
c.4678T>A (p.Phe1560Ile)
c.4648T>A (p.Phe1550Ile)
c.4573T>A (p.Phe1525Ile)
c.4471T>A (p.Phe1491Ile)
c.4102T>A (p.Phe1368Ile)
 dbSNP
5g.112840545T>CCA16032172APCc.5005T>C (p.Phe1669Leu)
c.*4957T>C (n.*4957T>C)
c.4897T>C (p.Phe1633Leu)
c.4951T>C (p.Phe1651Leu)
c.*4273T>C (n.*4273T>C)
c.230+11573T>C
c.4981T>C (p.Phe1661Leu)
c.4876T>C (p.Phe1626Leu)
c.4867T>C (p.Phe1623Leu)
c.4828T>C (p.Phe1610Leu)
c.4774T>C (p.Phe1592Leu)
c.4678T>C (p.Phe1560Leu)
c.4648T>C (p.Phe1550Leu)
c.4573T>C (p.Phe1525Leu)
c.4471T>C (p.Phe1491Leu)
c.4102T>C (p.Phe1368Leu)
 dbSNP
5g.112840545T>GCA16032173APCc.5005T>G (p.Phe1669Val)
c.*4957T>G (n.*4957T>G)
c.4897T>G (p.Phe1633Val)
c.4951T>G (p.Phe1651Val)
c.*4273T>G (n.*4273T>G)
c.230+11573T>G
c.4981T>G (p.Phe1661Val)
c.4876T>G (p.Phe1626Val)
c.4867T>G (p.Phe1623Val)
c.4828T>G (p.Phe1610Val)
c.4774T>G (p.Phe1592Val)
c.4678T>G (p.Phe1560Val)
c.4648T>G (p.Phe1550Val)
c.4573T>G (p.Phe1525Val)
c.4471T>G (p.Phe1491Val)
c.4102T>G (p.Phe1368Val)
 gnomAD v4
5g.112840548delCA658760793APCc.5008del (p.Ser1670ProfsTer6)
c.*4960del (n.*4960del)
c.4900del (p.Ser1634ProfsTer6)
c.4954del (p.Ser1652ProfsTer6)
c.*4276del (n.*4276del)
c.230+11576del
c.4984del (p.Ser1662ProfsTer6)
c.4879del (p.Ser1627ProfsTer6)
c.4870del (p.Ser1624ProfsTer6)
c.4831del (p.Ser1611ProfsTer6)
c.4777del (p.Ser1593ProfsTer6)
c.4681del (p.Ser1561ProfsTer6)
c.4651del (p.Ser1551ProfsTer6)
c.4576del (p.Ser1526ProfsTer6)
c.4474del (p.Ser1492ProfsTer6)
c.4105del (p.Ser1369ProfsTer6)
 ClinVar
5g.112840547_112840548delCA645372800APCc.5007_5008del (p.Ser1670HisfsTer7)
c.*4959_*4960del (n.*4959_*4960del)
c.4899_4900del (p.Ser1634HisfsTer7)
c.4953_4954del (p.Ser1652HisfsTer7)
c.*4275_*4276del (n.*4275_*4276del)
c.230+11575_230+11576del
c.4983_4984del (p.Ser1662HisfsTer7)
c.4878_4879del (p.Ser1627HisfsTer7)
c.4869_4870del (p.Ser1624HisfsTer7)
c.4830_4831del (p.Ser1611HisfsTer7)
c.4776_4777del (p.Ser1593HisfsTer7)
c.4680_4681del (p.Ser1561HisfsTer7)
c.4650_4651del (p.Ser1551HisfsTer7)
c.4575_4576del (p.Ser1526HisfsTer7)
c.4473_4474del (p.Ser1492HisfsTer7)
c.4104_4105del (p.Ser1369HisfsTer7)
 ClinVar dbSNP
5g.112840546T>ACA16032174APCc.5006T>A (p.Phe1669Tyr)
c.*4958T>A (n.*4958T>A)
c.4898T>A (p.Phe1633Tyr)
c.4952T>A (p.Phe1651Tyr)
c.*4274T>A (n.*4274T>A)
c.230+11574T>A
c.4982T>A (p.Phe1661Tyr)
c.4877T>A (p.Phe1626Tyr)
c.4868T>A (p.Phe1623Tyr)
c.4829T>A (p.Phe1610Tyr)
c.4775T>A (p.Phe1592Tyr)
c.4679T>A (p.Phe1560Tyr)
c.4649T>A (p.Phe1550Tyr)
c.4574T>A (p.Phe1525Tyr)
c.4472T>A (p.Phe1491Tyr)
c.4103T>A (p.Phe1368Tyr)
 dbSNP
5g.112840546T>CCA16032175APCc.5006T>C (p.Phe1669Ser)
c.*4958T>C (n.*4958T>C)
c.4898T>C (p.Phe1633Ser)
c.4952T>C (p.Phe1651Ser)
c.*4274T>C (n.*4274T>C)
c.230+11574T>C
c.4982T>C (p.Phe1661Ser)
c.4877T>C (p.Phe1626Ser)
c.4868T>C (p.Phe1623Ser)
c.4829T>C (p.Phe1610Ser)
c.4775T>C (p.Phe1592Ser)
c.4679T>C (p.Phe1560Ser)
c.4649T>C (p.Phe1550Ser)
c.4574T>C (p.Phe1525Ser)
c.4472T>C (p.Phe1491Ser)
c.4103T>C (p.Phe1368Ser)
 dbSNP
5g.112840546T>GCA16032176APCc.5006T>G (p.Phe1669Cys)
c.*4958T>G (n.*4958T>G)
c.4898T>G (p.Phe1633Cys)
c.4952T>G (p.Phe1651Cys)
c.*4274T>G (n.*4274T>G)
c.230+11574T>G
c.4982T>G (p.Phe1661Cys)
c.4877T>G (p.Phe1626Cys)
c.4868T>G (p.Phe1623Cys)
c.4829T>G (p.Phe1610Cys)
c.4775T>G (p.Phe1592Cys)
c.4679T>G (p.Phe1560Cys)
c.4649T>G (p.Phe1550Cys)
c.4574T>G (p.Phe1525Cys)
c.4472T>G (p.Phe1491Cys)
c.4103T>G (p.Phe1368Cys)
5g.112840547T>ACA16032177APCc.5007T>A (p.Phe1669Leu)
c.*4959T>A (n.*4959T>A)
c.4899T>A (p.Phe1633Leu)
c.4953T>A (p.Phe1651Leu)
c.*4275T>A (n.*4275T>A)
c.230+11575T>A
c.4983T>A (p.Phe1661Leu)
c.4878T>A (p.Phe1626Leu)
c.4869T>A (p.Phe1623Leu)
c.4830T>A (p.Phe1610Leu)
c.4776T>A (p.Phe1592Leu)
c.4680T>A (p.Phe1560Leu)
c.4650T>A (p.Phe1550Leu)
c.4575T>A (p.Phe1525Leu)
c.4473T>A (p.Phe1491Leu)
c.4104T>A (p.Phe1368Leu)
 dbSNP
5g.112840547T>CCA446208716APCc.5007T>C (p.Phe1669=)
c.*4959T>C (n.*4959T>C)
c.4899T>C (p.Phe1633=)
c.4953T>C (p.Phe1651=)
c.*4275T>C (n.*4275T>C)
c.230+11575T>C
c.4983T>C (p.Phe1661=)
c.4878T>C (p.Phe1626=)
c.4869T>C (p.Phe1623=)
c.4830T>C (p.Phe1610=)
c.4776T>C (p.Phe1592=)
c.4680T>C (p.Phe1560=)
c.4650T>C (p.Phe1550=)
c.4575T>C (p.Phe1525=)
c.4473T>C (p.Phe1491=)
c.4104T>C (p.Phe1368=)
 ClinVar dbSNP
5g.112840547T>GCA16032178APCc.5007T>G (p.Phe1669Leu)
c.*4959T>G (n.*4959T>G)
c.4899T>G (p.Phe1633Leu)
c.4953T>G (p.Phe1651Leu)
c.*4275T>G (n.*4275T>G)
c.230+11575T>G
c.4983T>G (p.Phe1661Leu)
c.4878T>G (p.Phe1626Leu)
c.4869T>G (p.Phe1623Leu)
c.4830T>G (p.Phe1610Leu)
c.4776T>G (p.Phe1592Leu)
c.4680T>G (p.Phe1560Leu)
c.4650T>G (p.Phe1550Leu)
c.4575T>G (p.Phe1525Leu)
c.4473T>G (p.Phe1491Leu)
c.4104T>G (p.Phe1368Leu)
 dbSNP
5g.112840547T=CA1573472646APCc.5007T= (p.Phe1669=)
c.*4959T= (n.*4959T=)
c.4899T= (p.Phe1633=)
c.4953T= (p.Phe1651=)
c.*4275T= (n.*4275T=)
c.230+11575T=
c.4983T= (p.Phe1661=)
c.4878T= (p.Phe1626=)
c.4869T= (p.Phe1623=)
c.4830T= (p.Phe1610=)
c.4776T= (p.Phe1592=)
c.4680T= (p.Phe1560=)
c.4650T= (p.Phe1550=)
c.4575T= (p.Phe1525=)
c.4473T= (p.Phe1491=)
c.4104T= (p.Phe1368=)
5g.112840548T>ACA16032179APCc.5008T>A (p.Ser1670Thr)
c.*4960T>A (n.*4960T>A)
c.4900T>A (p.Ser1634Thr)
c.4954T>A (p.Ser1652Thr)
c.*4276T>A (n.*4276T>A)
c.230+11576T>A
c.4984T>A (p.Ser1662Thr)
c.4879T>A (p.Ser1627Thr)
c.4870T>A (p.Ser1624Thr)
c.4831T>A (p.Ser1611Thr)
c.4777T>A (p.Ser1593Thr)
c.4681T>A (p.Ser1561Thr)
c.4651T>A (p.Ser1551Thr)
c.4576T>A (p.Ser1526Thr)
c.4474T>A (p.Ser1492Thr)
c.4105T>A (p.Ser1369Thr)
 gnomAD v4
5g.112840548T>CCA16032180APCc.5008T>C (p.Ser1670Pro)
c.*4960T>C (n.*4960T>C)
c.4900T>C (p.Ser1634Pro)
c.4954T>C (p.Ser1652Pro)
c.*4276T>C (n.*4276T>C)
c.230+11576T>C
c.4984T>C (p.Ser1662Pro)
c.4879T>C (p.Ser1627Pro)
c.4870T>C (p.Ser1624Pro)
c.4831T>C (p.Ser1611Pro)
c.4777T>C (p.Ser1593Pro)
c.4681T>C (p.Ser1561Pro)
c.4651T>C (p.Ser1551Pro)
c.4576T>C (p.Ser1526Pro)
c.4474T>C (p.Ser1492Pro)
c.4105T>C (p.Ser1369Pro)
5g.112840548T>GCA16032181APCc.5008T>G (p.Ser1670Ala)
c.*4960T>G (n.*4960T>G)
c.4900T>G (p.Ser1634Ala)
c.4954T>G (p.Ser1652Ala)
c.*4276T>G (n.*4276T>G)
c.230+11576T>G
c.4984T>G (p.Ser1662Ala)
c.4879T>G (p.Ser1627Ala)
c.4870T>G (p.Ser1624Ala)
c.4831T>G (p.Ser1611Ala)
c.4777T>G (p.Ser1593Ala)
c.4681T>G (p.Ser1561Ala)
c.4651T>G (p.Ser1551Ala)
c.4576T>G (p.Ser1526Ala)
c.4474T>G (p.Ser1492Ala)
c.4105T>G (p.Ser1369Ala)
 ClinVar
5g.112840549C>ACA16032182APCc.5009C>A (p.Ser1670Tyr)
c.*4961C>A (n.*4961C>A)
c.4901C>A (p.Ser1634Tyr)
c.4955C>A (p.Ser1652Tyr)
c.*4277C>A (n.*4277C>A)
c.230+11577C>A
c.4985C>A (p.Ser1662Tyr)
c.4880C>A (p.Ser1627Tyr)
c.4871C>A (p.Ser1624Tyr)
c.4832C>A (p.Ser1611Tyr)
c.4778C>A (p.Ser1593Tyr)
c.4682C>A (p.Ser1561Tyr)
c.4652C>A (p.Ser1551Tyr)
c.4577C>A (p.Ser1526Tyr)
c.4475C>A (p.Ser1492Tyr)
c.4106C>A (p.Ser1369Tyr)
 dbSNP
5g.112840549C>GCA16032183APCc.5009C>G (p.Ser1670Cys)
c.*4961C>G (n.*4961C>G)
c.4901C>G (p.Ser1634Cys)
c.4955C>G (p.Ser1652Cys)
c.*4277C>G (n.*4277C>G)
c.230+11577C>G
c.4985C>G (p.Ser1662Cys)
c.4880C>G (p.Ser1627Cys)
c.4871C>G (p.Ser1624Cys)
c.4832C>G (p.Ser1611Cys)
c.4778C>G (p.Ser1593Cys)
c.4682C>G (p.Ser1561Cys)
c.4652C>G (p.Ser1551Cys)
c.4577C>G (p.Ser1526Cys)
c.4475C>G (p.Ser1492Cys)
c.4106C>G (p.Ser1369Cys)
5g.112840549C>TCA16032184APCc.5009C>T (p.Ser1670Phe)
c.*4961C>T (n.*4961C>T)
c.4901C>T (p.Ser1634Phe)
c.4955C>T (p.Ser1652Phe)
c.*4277C>T (n.*4277C>T)
c.230+11577C>T
c.4985C>T (p.Ser1662Phe)
c.4880C>T (p.Ser1627Phe)
c.4871C>T (p.Ser1624Phe)
c.4832C>T (p.Ser1611Phe)
c.4778C>T (p.Ser1593Phe)
c.4682C>T (p.Ser1561Phe)
c.4652C>T (p.Ser1551Phe)
c.4577C>T (p.Ser1526Phe)
c.4475C>T (p.Ser1492Phe)
c.4106C>T (p.Ser1369Phe)
 dbSNP
5g.112840550delCA2825001374APCc.5010del (p.Thr1671GlnfsTer5)
c.*4962del (n.*4962del)
c.4902del (p.Thr1635GlnfsTer5)
c.4956del (p.Thr1653GlnfsTer5)
c.*4278del (n.*4278del)
c.230+11578del
c.4986del (p.Thr1663GlnfsTer5)
c.4881del (p.Thr1628GlnfsTer5)
c.4872del (p.Thr1625GlnfsTer5)
c.4833del (p.Thr1612GlnfsTer5)
c.4779del (p.Thr1594GlnfsTer5)
c.4683del (p.Thr1562GlnfsTer5)
c.4653del (p.Thr1552GlnfsTer5)
c.4578del (p.Thr1527GlnfsTer5)
c.4476del (p.Thr1493GlnfsTer5)
c.4107del (p.Thr1370GlnfsTer5)
 ClinVar
5g.112840550C>ACA446208717APCc.5010C>A (p.Ser1670=)
c.*4962C>A (n.*4962C>A)
c.4902C>A (p.Ser1634=)
c.4956C>A (p.Ser1652=)
c.*4278C>A (n.*4278C>A)
c.230+11578C>A
c.4986C>A (p.Ser1662=)
c.4881C>A (p.Ser1627=)
c.4872C>A (p.Ser1624=)
c.4833C>A (p.Ser1611=)
c.4779C>A (p.Ser1593=)
c.4683C>A (p.Ser1561=)
c.4653C>A (p.Ser1551=)
c.4578C>A (p.Ser1526=)
c.4476C>A (p.Ser1492=)
c.4107C>A (p.Ser1369=)
 dbSNP
5g.112840550C=CA1573472649APCc.5010C= (p.Ser1670=)
c.*4962C= (n.*4962C=)
c.4902C= (p.Ser1634=)
c.4956C= (p.Ser1652=)
c.*4278C= (n.*4278C=)
c.230+11578C=
c.4986C= (p.Ser1662=)
c.4881C= (p.Ser1627=)
c.4872C= (p.Ser1624=)
c.4833C= (p.Ser1611=)
c.4779C= (p.Ser1593=)
c.4683C= (p.Ser1561=)
c.4653C= (p.Ser1551=)
c.4578C= (p.Ser1526=)
c.4476C= (p.Ser1492=)
c.4107C= (p.Ser1369=)
5g.112840550C>GCA446208718APCc.5010C>G (p.Ser1670=)
c.*4962C>G (n.*4962C>G)
c.4902C>G (p.Ser1634=)
c.4956C>G (p.Ser1652=)
c.*4278C>G (n.*4278C>G)
c.230+11578C>G
c.4986C>G (p.Ser1662=)
c.4881C>G (p.Ser1627=)
c.4872C>G (p.Ser1624=)
c.4833C>G (p.Ser1611=)
c.4779C>G (p.Ser1593=)
c.4683C>G (p.Ser1561=)
c.4653C>G (p.Ser1551=)
c.4578C>G (p.Ser1526=)
c.4476C>G (p.Ser1492=)
c.4107C>G (p.Ser1369=)
 dbSNP
5g.112840550C>TCA446208719APCc.5010C>T (p.Ser1670=)
c.*4962C>T (n.*4962C>T)
c.4902C>T (p.Ser1634=)
c.4956C>T (p.Ser1652=)
c.*4278C>T (n.*4278C>T)
c.230+11578C>T
c.4986C>T (p.Ser1662=)
c.4881C>T (p.Ser1627=)
c.4872C>T (p.Ser1624=)
c.4833C>T (p.Ser1611=)
c.4779C>T (p.Ser1593=)
c.4683C>T (p.Ser1561=)
c.4653C>T (p.Ser1551=)
c.4578C>T (p.Ser1526=)
c.4476C>T (p.Ser1492=)
c.4107C>T (p.Ser1369=)
 ClinVar dbSNP
5g.112840551A>CCA16032185APCc.5011A>C (p.Thr1671Pro)
c.*4963A>C (n.*4963A>C)
c.4903A>C (p.Thr1635Pro)
c.4957A>C (p.Thr1653Pro)
c.*4279A>C (n.*4279A>C)
c.230+11579A>C
c.4987A>C (p.Thr1663Pro)
c.4882A>C (p.Thr1628Pro)
c.4873A>C (p.Thr1625Pro)
c.4834A>C (p.Thr1612Pro)
c.4780A>C (p.Thr1594Pro)
c.4684A>C (p.Thr1562Pro)
c.4654A>C (p.Thr1552Pro)
c.4579A>C (p.Thr1527Pro)
c.4477A>C (p.Thr1493Pro)
c.4108A>C (p.Thr1370Pro)
 dbSNP
5g.112840551A>GCA16032186APCc.5011A>G (p.Thr1671Ala)
c.*4963A>G (n.*4963A>G)
c.4903A>G (p.Thr1635Ala)
c.4957A>G (p.Thr1653Ala)
c.*4279A>G (n.*4279A>G)
c.230+11579A>G
c.4987A>G (p.Thr1663Ala)
c.4882A>G (p.Thr1628Ala)
c.4873A>G (p.Thr1625Ala)
c.4834A>G (p.Thr1612Ala)
c.4780A>G (p.Thr1594Ala)
c.4684A>G (p.Thr1562Ala)
c.4654A>G (p.Thr1552Ala)
c.4579A>G (p.Thr1527Ala)
c.4477A>G (p.Thr1493Ala)
c.4108A>G (p.Thr1370Ala)
 dbSNP
5g.112840551A>TCA16032187APCc.5011A>T (p.Thr1671Ser)
c.*4963A>T (n.*4963A>T)
c.4903A>T (p.Thr1635Ser)
c.4957A>T (p.Thr1653Ser)
c.*4279A>T (n.*4279A>T)
c.230+11579A>T
c.4987A>T (p.Thr1663Ser)
c.4882A>T (p.Thr1628Ser)
c.4873A>T (p.Thr1625Ser)
c.4834A>T (p.Thr1612Ser)
c.4780A>T (p.Thr1594Ser)
c.4684A>T (p.Thr1562Ser)
c.4654A>T (p.Thr1552Ser)
c.4579A>T (p.Thr1527Ser)
c.4477A>T (p.Thr1493Ser)
c.4108A>T (p.Thr1370Ser)
 dbSNP
5g.112840552C>ACA16032188APCc.5012C>A (p.Thr1671Lys)
c.*4964C>A (n.*4964C>A)
c.4904C>A (p.Thr1635Lys)
c.4958C>A (p.Thr1653Lys)
c.*4280C>A (n.*4280C>A)
c.230+11580C>A
c.4988C>A (p.Thr1663Lys)
c.4883C>A (p.Thr1628Lys)
c.4874C>A (p.Thr1625Lys)
c.4835C>A (p.Thr1612Lys)
c.4781C>A (p.Thr1594Lys)
c.4685C>A (p.Thr1562Lys)
c.4655C>A (p.Thr1552Lys)
c.4580C>A (p.Thr1527Lys)
c.4478C>A (p.Thr1493Lys)
c.4109C>A (p.Thr1370Lys)
 dbSNP
5g.112840552C=CA1573472658APCc.5012C= (p.Thr1671=)
c.*4964C= (n.*4964C=)
c.4904C= (p.Thr1635=)
c.4958C= (p.Thr1653=)
c.*4280C= (n.*4280C=)
c.230+11580C=
c.4988C= (p.Thr1663=)
c.4883C= (p.Thr1628=)
c.4874C= (p.Thr1625=)
c.4835C= (p.Thr1612=)
c.4781C= (p.Thr1594=)
c.4685C= (p.Thr1562=)
c.4655C= (p.Thr1552=)
c.4580C= (p.Thr1527=)
c.4478C= (p.Thr1493=)
c.4109C= (p.Thr1370=)
5g.112840552C>GCA16032189APCc.5012C>G (p.Thr1671Arg)
c.*4964C>G (n.*4964C>G)
c.4904C>G (p.Thr1635Arg)
c.4958C>G (p.Thr1653Arg)
c.*4280C>G (n.*4280C>G)
c.230+11580C>G
c.4988C>G (p.Thr1663Arg)
c.4883C>G (p.Thr1628Arg)
c.4874C>G (p.Thr1625Arg)
c.4835C>G (p.Thr1612Arg)
c.4781C>G (p.Thr1594Arg)
c.4685C>G (p.Thr1562Arg)
c.4655C>G (p.Thr1552Arg)
c.4580C>G (p.Thr1527Arg)
c.4478C>G (p.Thr1493Arg)
c.4109C>G (p.Thr1370Arg)
 dbSNP gnomAD v4
5g.112840552C>TCA16032190APCc.5012C>T (p.Thr1671Ile)
c.*4964C>T (n.*4964C>T)
c.4904C>T (p.Thr1635Ile)
c.4958C>T (p.Thr1653Ile)
c.*4280C>T (n.*4280C>T)
c.230+11580C>T
c.4988C>T (p.Thr1663Ile)
c.4883C>T (p.Thr1628Ile)
c.4874C>T (p.Thr1625Ile)
c.4835C>T (p.Thr1612Ile)
c.4781C>T (p.Thr1594Ile)
c.4685C>T (p.Thr1562Ile)
c.4655C>T (p.Thr1552Ile)
c.4580C>T (p.Thr1527Ile)
c.4478C>T (p.Thr1493Ile)
c.4109C>T (p.Thr1370Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840553A>CCA446208722APCc.5013A>C (p.Thr1671=)
c.*4965A>C (n.*4965A>C)
c.4905A>C (p.Thr1635=)
c.4959A>C (p.Thr1653=)
c.*4281A>C (n.*4281A>C)
c.230+11581A>C
c.4989A>C (p.Thr1663=)
c.4884A>C (p.Thr1628=)
c.4875A>C (p.Thr1625=)
c.4836A>C (p.Thr1612=)
c.4782A>C (p.Thr1594=)
c.4686A>C (p.Thr1562=)
c.4656A>C (p.Thr1552=)
c.4581A>C (p.Thr1527=)
c.4479A>C (p.Thr1493=)
c.4110A>C (p.Thr1370=)
 ClinVar gnomAD v4
5g.112840553A>GCA446208720APCc.5013A>G (p.Thr1671=)
c.*4965A>G (n.*4965A>G)
c.4905A>G (p.Thr1635=)
c.4959A>G (p.Thr1653=)
c.*4281A>G (n.*4281A>G)
c.230+11581A>G
c.4989A>G (p.Thr1663=)
c.4884A>G (p.Thr1628=)
c.4875A>G (p.Thr1625=)
c.4836A>G (p.Thr1612=)
c.4782A>G (p.Thr1594=)
c.4686A>G (p.Thr1562=)
c.4656A>G (p.Thr1552=)
c.4581A>G (p.Thr1527=)
c.4479A>G (p.Thr1493=)
c.4110A>G (p.Thr1370=)
 ClinVar dbSNP
5g.112840553A>TCA446208721APCc.5013A>T (p.Thr1671=)
c.*4965A>T (n.*4965A>T)
c.4905A>T (p.Thr1635=)
c.4959A>T (p.Thr1653=)
c.*4281A>T (n.*4281A>T)
c.230+11581A>T
c.4989A>T (p.Thr1663=)
c.4884A>T (p.Thr1628=)
c.4875A>T (p.Thr1625=)
c.4836A>T (p.Thr1612=)
c.4782A>T (p.Thr1594=)
c.4686A>T (p.Thr1562=)
c.4656A>T (p.Thr1552=)
c.4581A>T (p.Thr1527=)
c.4479A>T (p.Thr1493=)
c.4110A>T (p.Thr1370=)
 dbSNP
5g.112840554G>ACA16032191APCc.5014G>A (p.Ala1672Thr)
c.*4966G>A (n.*4966G>A)
c.4906G>A (p.Ala1636Thr)
c.4960G>A (p.Ala1654Thr)
c.*4282G>A (n.*4282G>A)
c.230+11582G>A
c.4990G>A (p.Ala1664Thr)
c.4885G>A (p.Ala1629Thr)
c.4876G>A (p.Ala1626Thr)
c.4837G>A (p.Ala1613Thr)
c.4783G>A (p.Ala1595Thr)
c.4687G>A (p.Ala1563Thr)
c.4657G>A (p.Ala1553Thr)
c.4582G>A (p.Ala1528Thr)
c.4480G>A (p.Ala1494Thr)
c.4111G>A (p.Ala1371Thr)
 dbSNP
5g.112840554G>CCA16032192APCc.5014G>C (p.Ala1672Pro)
c.*4966G>C (n.*4966G>C)
c.4906G>C (p.Ala1636Pro)
c.4960G>C (p.Ala1654Pro)
c.*4282G>C (n.*4282G>C)
c.230+11582G>C
c.4990G>C (p.Ala1664Pro)
c.4885G>C (p.Ala1629Pro)
c.4876G>C (p.Ala1626Pro)
c.4837G>C (p.Ala1613Pro)
c.4783G>C (p.Ala1595Pro)
c.4687G>C (p.Ala1563Pro)
c.4657G>C (p.Ala1553Pro)
c.4582G>C (p.Ala1528Pro)
c.4480G>C (p.Ala1494Pro)
c.4111G>C (p.Ala1371Pro)
 dbSNP
5g.112840554G=CA1573472672APCc.5014G= (p.Ala1672=)
c.*4966G= (n.*4966G=)
c.4906G= (p.Ala1636=)
c.4960G= (p.Ala1654=)
c.*4282G= (n.*4282G=)
c.230+11582G=
c.4990G= (p.Ala1664=)
c.4885G= (p.Ala1629=)
c.4876G= (p.Ala1626=)
c.4837G= (p.Ala1613=)
c.4783G= (p.Ala1595=)
c.4687G= (p.Ala1563=)
c.4657G= (p.Ala1553=)
c.4582G= (p.Ala1528=)
c.4480G= (p.Ala1494=)
c.4111G= (p.Ala1371=)
5g.112840554G>TCA16032193APCc.5014G>T (p.Ala1672Ser)
c.*4966G>T (n.*4966G>T)
c.4906G>T (p.Ala1636Ser)
c.4960G>T (p.Ala1654Ser)
c.*4282G>T (n.*4282G>T)
c.230+11582G>T
c.4990G>T (p.Ala1664Ser)
c.4885G>T (p.Ala1629Ser)
c.4876G>T (p.Ala1626Ser)
c.4837G>T (p.Ala1613Ser)
c.4783G>T (p.Ala1595Ser)
c.4687G>T (p.Ala1563Ser)
c.4657G>T (p.Ala1553Ser)
c.4582G>T (p.Ala1528Ser)
c.4480G>T (p.Ala1494Ser)
c.4111G>T (p.Ala1371Ser)
 dbSNP
5g.112840555C>ACA16032194APCc.5015C>A (p.Ala1672Asp)
c.*4967C>A (n.*4967C>A)
c.4907C>A (p.Ala1636Asp)
c.4961C>A (p.Ala1654Asp)
c.*4283C>A (n.*4283C>A)
c.230+11583C>A
c.4991C>A (p.Ala1664Asp)
c.4886C>A (p.Ala1629Asp)
c.4877C>A (p.Ala1626Asp)
c.4838C>A (p.Ala1613Asp)
c.4784C>A (p.Ala1595Asp)
c.4688C>A (p.Ala1563Asp)
c.4658C>A (p.Ala1553Asp)
c.4583C>A (p.Ala1528Asp)
c.4481C>A (p.Ala1494Asp)
c.4112C>A (p.Ala1371Asp)
 dbSNP
5g.112840555C>GCA16032195APCc.5015C>G (p.Ala1672Gly)
c.*4967C>G (n.*4967C>G)
c.4907C>G (p.Ala1636Gly)
c.4961C>G (p.Ala1654Gly)
c.*4283C>G (n.*4283C>G)
c.230+11583C>G
c.4991C>G (p.Ala1664Gly)
c.4886C>G (p.Ala1629Gly)
c.4877C>G (p.Ala1626Gly)
c.4838C>G (p.Ala1613Gly)
c.4784C>G (p.Ala1595Gly)
c.4688C>G (p.Ala1563Gly)
c.4658C>G (p.Ala1553Gly)
c.4583C>G (p.Ala1528Gly)
c.4481C>G (p.Ala1494Gly)
c.4112C>G (p.Ala1371Gly)
 ClinVar dbSNP
5g.112840555C>TCA16032196APCc.5015C>T (p.Ala1672Val)
c.*4967C>T (n.*4967C>T)
c.4907C>T (p.Ala1636Val)
c.4961C>T (p.Ala1654Val)
c.*4283C>T (n.*4283C>T)
c.230+11583C>T
c.4991C>T (p.Ala1664Val)
c.4886C>T (p.Ala1629Val)
c.4877C>T (p.Ala1626Val)
c.4838C>T (p.Ala1613Val)
c.4784C>T (p.Ala1595Val)
c.4688C>T (p.Ala1563Val)
c.4658C>T (p.Ala1553Val)
c.4583C>T (p.Ala1528Val)
c.4481C>T (p.Ala1494Val)
c.4112C>T (p.Ala1371Val)
 ClinVar dbSNP
5g.112840555_112840570delinsCTACATCTCTAAGTGACA1573472675APCc.5015_5030delinsCTACATCTCTAAGTGA (p.Ala1672=)
c.*4967_*4982delinsCTACATCTCTAAGTGA (n.*4967_*4982delinsCTACATCTCTAAGTGA)
c.4907_4922delinsCTACATCTCTAAGTGA (p.Ala1636=)
c.4961_4976delinsCTACATCTCTAAGTGA (p.Ala1654=)
c.*4283_*4298delinsCTACATCTCTAAGTGA (n.*4283_*4298delinsCTACATCTCTAAGTGA)
c.230+11583_230+11598delinsCTACATCTCTAAGTGA
c.4991_5006delinsCTACATCTCTAAGTGA (p.Ala1664=)
c.4886_4901delinsCTACATCTCTAAGTGA (p.Ala1629=)
c.4877_4892delinsCTACATCTCTAAGTGA (p.Ala1626=)
c.4838_4853delinsCTACATCTCTAAGTGA (p.Ala1613=)
c.4784_4799delinsCTACATCTCTAAGTGA (p.Ala1595=)
c.4688_4703delinsCTACATCTCTAAGTGA (p.Ala1563=)
c.4658_4673delinsCTACATCTCTAAGTGA (p.Ala1553=)
c.4583_4598delinsCTACATCTCTAAGTGA (p.Ala1528=)
c.4481_4496delinsCTACATCTCTAAGTGA (p.Ala1494=)
c.4112_4127delinsCTACATCTCTAAGTGA (p.Ala1371=)
5g.112840556T>ACA446208723APCc.5016T>A (p.Ala1672=)
c.*4968T>A (n.*4968T>A)
c.4908T>A (p.Ala1636=)
c.4962T>A (p.Ala1654=)
c.*4284T>A (n.*4284T>A)
c.230+11584T>A
c.4992T>A (p.Ala1664=)
c.4887T>A (p.Ala1629=)
c.4878T>A (p.Ala1626=)
c.4839T>A (p.Ala1613=)
c.4785T>A (p.Ala1595=)
c.4689T>A (p.Ala1563=)
c.4659T>A (p.Ala1553=)
c.4584T>A (p.Ala1528=)
c.4482T>A (p.Ala1494=)
c.4113T>A (p.Ala1371=)
 dbSNP
5g.112840556T>CCA040277APCc.5016T>C (p.Ala1672=)
c.*4968T>C (n.*4968T>C)
c.4908T>C (p.Ala1636=)
c.4962T>C (p.Ala1654=)
c.*4284T>C (n.*4284T>C)
c.230+11584T>C
c.4992T>C (p.Ala1664=)
c.4887T>C (p.Ala1629=)
c.4878T>C (p.Ala1626=)
c.4839T>C (p.Ala1613=)
c.4785T>C (p.Ala1595=)
c.4689T>C (p.Ala1563=)
c.4659T>C (p.Ala1553=)
c.4584T>C (p.Ala1528=)
c.4482T>C (p.Ala1494=)
c.4113T>C (p.Ala1371=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840556T>GCA446208724APCc.5016T>G (p.Ala1672=)
c.*4968T>G (n.*4968T>G)
c.4908T>G (p.Ala1636=)
c.4962T>G (p.Ala1654=)
c.*4284T>G (n.*4284T>G)
c.230+11584T>G
c.4992T>G (p.Ala1664=)
c.4887T>G (p.Ala1629=)
c.4878T>G (p.Ala1626=)
c.4839T>G (p.Ala1613=)
c.4785T>G (p.Ala1595=)
c.4689T>G (p.Ala1563=)
c.4659T>G (p.Ala1553=)
c.4584T>G (p.Ala1528=)
c.4482T>G (p.Ala1494=)
c.4113T>G (p.Ala1371=)
 ClinVar dbSNP
5g.112840556T=CA1573472683APCc.5016T= (p.Ala1672=)
c.*4968T= (n.*4968T=)
c.4908T= (p.Ala1636=)
c.4962T= (p.Ala1654=)
c.*4284T= (n.*4284T=)
c.230+11584T=
c.4992T= (p.Ala1664=)
c.4887T= (p.Ala1629=)
c.4878T= (p.Ala1626=)
c.4839T= (p.Ala1613=)
c.4785T= (p.Ala1595=)
c.4689T= (p.Ala1563=)
c.4659T= (p.Ala1553=)
c.4584T= (p.Ala1528=)
c.4482T= (p.Ala1494=)
c.4113T= (p.Ala1371=)
5g.112840557_112840571delCA913188207APCc.5017_5031del (p.Thr1673_Asp1677del)
c.*4969_*4983del (n.*4969_*4983del)
c.4909_4923del (p.Thr1637_Asp1641del)
c.4963_4977del (p.Thr1655_Asp1659del)
c.*4285_*4299del (n.*4285_*4299del)
c.230+11585_230+11599del
c.4993_5007del (p.Thr1665_Asp1669del)
c.4888_4902del (p.Thr1630_Asp1634del)
c.4879_4893del (p.Thr1627_Asp1631del)
c.4840_4854del (p.Thr1614_Asp1618del)
c.4786_4800del (p.Thr1596_Asp1600del)
c.4690_4704del (p.Thr1564_Asp1568del)
c.4660_4674del (p.Thr1554_Asp1558del)
c.4585_4599del (p.Thr1529_Asp1533del)
c.4483_4497del (p.Thr1495_Asp1499del)
c.4114_4128del (p.Thr1372_Asp1376del)
 ClinVar dbSNP
5g.112840557A=CA1573472691APCc.5017A= (p.Thr1673=)
c.*4969A= (n.*4969A=)
c.4909A= (p.Thr1637=)
c.4963A= (p.Thr1655=)
c.*4285A= (n.*4285A=)
c.230+11585A=
c.4993A= (p.Thr1665=)
c.4888A= (p.Thr1630=)
c.4879A= (p.Thr1627=)
c.4840A= (p.Thr1614=)
c.4786A= (p.Thr1596=)
c.4690A= (p.Thr1564=)
c.4660A= (p.Thr1554=)
c.4585A= (p.Thr1529=)
c.4483A= (p.Thr1495=)
c.4114A= (p.Thr1372=)
5g.112840557A>CCA16032197APCc.5017A>C (p.Thr1673Pro)
c.*4969A>C (n.*4969A>C)
c.4909A>C (p.Thr1637Pro)
c.4963A>C (p.Thr1655Pro)
c.*4285A>C (n.*4285A>C)
c.230+11585A>C
c.4993A>C (p.Thr1665Pro)
c.4888A>C (p.Thr1630Pro)
c.4879A>C (p.Thr1627Pro)
c.4840A>C (p.Thr1614Pro)
c.4786A>C (p.Thr1596Pro)
c.4690A>C (p.Thr1564Pro)
c.4660A>C (p.Thr1554Pro)
c.4585A>C (p.Thr1529Pro)
c.4483A>C (p.Thr1495Pro)
c.4114A>C (p.Thr1372Pro)
 ClinVar
5g.112840557A>GCA10582320APCc.5017A>G (p.Thr1673Ala)
c.*4969A>G (n.*4969A>G)
c.4909A>G (p.Thr1637Ala)
c.4963A>G (p.Thr1655Ala)
c.*4285A>G (n.*4285A>G)
c.230+11585A>G
c.4993A>G (p.Thr1665Ala)
c.4888A>G (p.Thr1630Ala)
c.4879A>G (p.Thr1627Ala)
c.4840A>G (p.Thr1614Ala)
c.4786A>G (p.Thr1596Ala)
c.4690A>G (p.Thr1564Ala)
c.4660A>G (p.Thr1554Ala)
c.4585A>G (p.Thr1529Ala)
c.4483A>G (p.Thr1495Ala)
c.4114A>G (p.Thr1372Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840557A>TCA16032198APCc.5017A>T (p.Thr1673Ser)
c.*4969A>T (n.*4969A>T)
c.4909A>T (p.Thr1637Ser)
c.4963A>T (p.Thr1655Ser)
c.*4285A>T (n.*4285A>T)
c.230+11585A>T
c.4993A>T (p.Thr1665Ser)
c.4888A>T (p.Thr1630Ser)
c.4879A>T (p.Thr1627Ser)
c.4840A>T (p.Thr1614Ser)
c.4786A>T (p.Thr1596Ser)
c.4690A>T (p.Thr1564Ser)
c.4660A>T (p.Thr1554Ser)
c.4585A>T (p.Thr1529Ser)
c.4483A>T (p.Thr1495Ser)
c.4114A>T (p.Thr1372Ser)
5g.112840557_112840558insACTCA2767941967APCc.5017_5018insACT (p.Thr1673delinsAsnSer)
c.*4969_*4970insACT (n.*4969_*4970insACT)
c.4909_4910insACT (p.Thr1637delinsAsnSer)
c.4963_4964insACT (p.Thr1655delinsAsnSer)
c.*4285_*4286insACT (n.*4285_*4286insACT)
c.230+11585_230+11586insACT
c.4993_4994insACT (p.Thr1665delinsAsnSer)
c.4888_4889insACT (p.Thr1630delinsAsnSer)
c.4879_4880insACT (p.Thr1627delinsAsnSer)
c.4840_4841insACT (p.Thr1614delinsAsnSer)
c.4786_4787insACT (p.Thr1596delinsAsnSer)
c.4690_4691insACT (p.Thr1564delinsAsnSer)
c.4660_4661insACT (p.Thr1554delinsAsnSer)
c.4585_4586insACT (p.Thr1529delinsAsnSer)
c.4483_4484insACT (p.Thr1495delinsAsnSer)
c.4114_4115insACT (p.Thr1372delinsAsnSer)
5g.112840558C>ACA16032199APCc.5018C>A (p.Thr1673Lys)
c.*4970C>A (n.*4970C>A)
c.4910C>A (p.Thr1637Lys)
c.4964C>A (p.Thr1655Lys)
c.*4286C>A (n.*4286C>A)
c.230+11586C>A
c.4994C>A (p.Thr1665Lys)
c.4889C>A (p.Thr1630Lys)
c.4880C>A (p.Thr1627Lys)
c.4841C>A (p.Thr1614Lys)
c.4787C>A (p.Thr1596Lys)
c.4691C>A (p.Thr1564Lys)
c.4661C>A (p.Thr1554Lys)
c.4586C>A (p.Thr1529Lys)
c.4484C>A (p.Thr1495Lys)
c.4115C>A (p.Thr1372Lys)
 dbSNP
5g.112840558C=CA1573472705APCc.5018C= (p.Thr1673=)
c.*4970C= (n.*4970C=)
c.4910C= (p.Thr1637=)
c.4964C= (p.Thr1655=)
c.*4286C= (n.*4286C=)
c.230+11586C=
c.4994C= (p.Thr1665=)
c.4889C= (p.Thr1630=)
c.4880C= (p.Thr1627=)
c.4841C= (p.Thr1614=)
c.4787C= (p.Thr1596=)
c.4691C= (p.Thr1564=)
c.4661C= (p.Thr1554=)
c.4586C= (p.Thr1529=)
c.4484C= (p.Thr1495=)
c.4115C= (p.Thr1372=)
5g.112840558C>GCA16032200APCc.5018C>G (p.Thr1673Arg)
c.*4970C>G (n.*4970C>G)
c.4910C>G (p.Thr1637Arg)
c.4964C>G (p.Thr1655Arg)
c.*4286C>G (n.*4286C>G)
c.230+11586C>G
c.4994C>G (p.Thr1665Arg)
c.4889C>G (p.Thr1630Arg)
c.4880C>G (p.Thr1627Arg)
c.4841C>G (p.Thr1614Arg)
c.4787C>G (p.Thr1596Arg)
c.4691C>G (p.Thr1564Arg)
c.4661C>G (p.Thr1554Arg)
c.4586C>G (p.Thr1529Arg)
c.4484C>G (p.Thr1495Arg)
c.4115C>G (p.Thr1372Arg)
 dbSNP
5g.112840558C>TCA16032201APCc.5018C>T (p.Thr1673Ile)
c.*4970C>T (n.*4970C>T)
c.4910C>T (p.Thr1637Ile)
c.4964C>T (p.Thr1655Ile)
c.*4286C>T (n.*4286C>T)
c.230+11586C>T
c.4994C>T (p.Thr1665Ile)
c.4889C>T (p.Thr1630Ile)
c.4880C>T (p.Thr1627Ile)
c.4841C>T (p.Thr1614Ile)
c.4787C>T (p.Thr1596Ile)
c.4691C>T (p.Thr1564Ile)
c.4661C>T (p.Thr1554Ile)
c.4586C>T (p.Thr1529Ile)
c.4484C>T (p.Thr1495Ile)
c.4115C>T (p.Thr1372Ile)
 ClinVar dbSNP
5g.112840559A=CA1573472731APCc.5019A= (p.Thr1673=)
c.*4971A= (n.*4971A=)
c.4911A= (p.Thr1637=)
c.4965A= (p.Thr1655=)
c.*4287A= (n.*4287A=)
c.230+11587A=
c.4995A= (p.Thr1665=)
c.4890A= (p.Thr1630=)
c.4881A= (p.Thr1627=)
c.4842A= (p.Thr1614=)
c.4788A= (p.Thr1596=)
c.4692A= (p.Thr1564=)
c.4662A= (p.Thr1554=)
c.4587A= (p.Thr1529=)
c.4485A= (p.Thr1495=)
c.4116A= (p.Thr1372=)
5g.112840559A>CCA338769APCc.5019A>C (p.Thr1673=)
c.*4971A>C (n.*4971A>C)
c.4911A>C (p.Thr1637=)
c.4965A>C (p.Thr1655=)
c.*4287A>C (n.*4287A>C)
c.230+11587A>C
c.4995A>C (p.Thr1665=)
c.4890A>C (p.Thr1630=)
c.4881A>C (p.Thr1627=)
c.4842A>C (p.Thr1614=)
c.4788A>C (p.Thr1596=)
c.4692A>C (p.Thr1564=)
c.4662A>C (p.Thr1554=)
c.4587A>C (p.Thr1529=)
c.4485A>C (p.Thr1495=)
c.4116A>C (p.Thr1372=)
 ClinVar dbSNP
5g.112840559A>GCA350636APCc.5019A>G (p.Thr1673=)
c.*4971A>G (n.*4971A>G)
c.4911A>G (p.Thr1637=)
c.4965A>G (p.Thr1655=)
c.*4287A>G (n.*4287A>G)
c.230+11587A>G
c.4995A>G (p.Thr1665=)
c.4890A>G (p.Thr1630=)
c.4881A>G (p.Thr1627=)
c.4842A>G (p.Thr1614=)
c.4788A>G (p.Thr1596=)
c.4692A>G (p.Thr1564=)
c.4662A>G (p.Thr1554=)
c.4587A>G (p.Thr1529=)
c.4485A>G (p.Thr1495=)
c.4116A>G (p.Thr1372=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840559A>TCA446208725APCc.5019A>T (p.Thr1673=)
c.*4971A>T (n.*4971A>T)
c.4911A>T (p.Thr1637=)
c.4965A>T (p.Thr1655=)
c.*4287A>T (n.*4287A>T)
c.230+11587A>T
c.4995A>T (p.Thr1665=)
c.4890A>T (p.Thr1630=)
c.4881A>T (p.Thr1627=)
c.4842A>T (p.Thr1614=)
c.4788A>T (p.Thr1596=)
c.4692A>T (p.Thr1564=)
c.4662A>T (p.Thr1554=)
c.4587A>T (p.Thr1529=)
c.4485A>T (p.Thr1495=)
c.4116A>T (p.Thr1372=)
5g.112840560T>ACA16032202APCc.5020T>A (p.Ser1674Thr)
c.*4972T>A (n.*4972T>A)
c.4912T>A (p.Ser1638Thr)
c.4966T>A (p.Ser1656Thr)
c.*4288T>A (n.*4288T>A)
c.230+11588T>A
c.4996T>A (p.Ser1666Thr)
c.4891T>A (p.Ser1631Thr)
c.4882T>A (p.Ser1628Thr)
c.4843T>A (p.Ser1615Thr)
c.4789T>A (p.Ser1597Thr)
c.4693T>A (p.Ser1565Thr)
c.4663T>A (p.Ser1555Thr)
c.4588T>A (p.Ser1530Thr)
c.4486T>A (p.Ser1496Thr)
c.4117T>A (p.Ser1373Thr)
 dbSNP
5g.112840560T>CCA16032203APCc.5020T>C (p.Ser1674Pro)
c.*4972T>C (n.*4972T>C)
c.4912T>C (p.Ser1638Pro)
c.4966T>C (p.Ser1656Pro)
c.*4288T>C (n.*4288T>C)
c.230+11588T>C
c.4996T>C (p.Ser1666Pro)
c.4891T>C (p.Ser1631Pro)
c.4882T>C (p.Ser1628Pro)
c.4843T>C (p.Ser1615Pro)
c.4789T>C (p.Ser1597Pro)
c.4693T>C (p.Ser1565Pro)
c.4663T>C (p.Ser1555Pro)
c.4588T>C (p.Ser1530Pro)
c.4486T>C (p.Ser1496Pro)
c.4117T>C (p.Ser1373Pro)
 ClinVar dbSNP gnomAD v4
5g.112840560T>GCA16032204APCc.5020T>G (p.Ser1674Ala)
c.*4972T>G (n.*4972T>G)
c.4912T>G (p.Ser1638Ala)
c.4966T>G (p.Ser1656Ala)
c.*4288T>G (n.*4288T>G)
c.230+11588T>G
c.4996T>G (p.Ser1666Ala)
c.4891T>G (p.Ser1631Ala)
c.4882T>G (p.Ser1628Ala)
c.4843T>G (p.Ser1615Ala)
c.4789T>G (p.Ser1597Ala)
c.4693T>G (p.Ser1565Ala)
c.4663T>G (p.Ser1555Ala)
c.4588T>G (p.Ser1530Ala)
c.4486T>G (p.Ser1496Ala)
c.4117T>G (p.Ser1373Ala)
5g.112840560T=CA1573472747APCc.5020T= (p.Ser1674=)
c.*4972T= (n.*4972T=)
c.4912T= (p.Ser1638=)
c.4966T= (p.Ser1656=)
c.*4288T= (n.*4288T=)
c.230+11588T=
c.4996T= (p.Ser1666=)
c.4891T= (p.Ser1631=)
c.4882T= (p.Ser1628=)
c.4843T= (p.Ser1615=)
c.4789T= (p.Ser1597=)
c.4693T= (p.Ser1565=)
c.4663T= (p.Ser1555=)
c.4588T= (p.Ser1530=)
c.4486T= (p.Ser1496=)
c.4117T= (p.Ser1373=)
5g.112840560_112840561delinsAGCA913188208APCc.5020_5021delinsAG (p.Ser1674=)
c.*4972_*4973delinsAG (n.*4972_*4973delinsAG)
c.4912_4913delinsAG (p.Ser1638=)
c.4966_4967delinsAG (p.Ser1656=)
c.*4288_*4289delinsAG (n.*4288_*4289delinsAG)
c.230+11588_230+11589delinsAG
c.4996_4997delinsAG (p.Ser1666=)
c.4891_4892delinsAG (p.Ser1631=)
c.4882_4883delinsAG (p.Ser1628=)
c.4843_4844delinsAG (p.Ser1615=)
c.4789_4790delinsAG (p.Ser1597=)
c.4693_4694delinsAG (p.Ser1565=)
c.4663_4664delinsAG (p.Ser1555=)
c.4588_4589delinsAG (p.Ser1530=)
c.4486_4487delinsAG (p.Ser1496=)
c.4117_4118delinsAG (p.Ser1373=)
 ClinVar dbSNP
5g.112840560_112840561delinsTCCA1573472752APCc.5020_5021delinsTC (p.Ser1674=)
c.*4972_*4973delinsTC (n.*4972_*4973delinsTC)
c.4912_4913delinsTC (p.Ser1638=)
c.4966_4967delinsTC (p.Ser1656=)
c.*4288_*4289delinsTC (n.*4288_*4289delinsTC)
c.230+11588_230+11589delinsTC
c.4996_4997delinsTC (p.Ser1666=)
c.4891_4892delinsTC (p.Ser1631=)
c.4882_4883delinsTC (p.Ser1628=)
c.4843_4844delinsTC (p.Ser1615=)
c.4789_4790delinsTC (p.Ser1597=)
c.4693_4694delinsTC (p.Ser1565=)
c.4663_4664delinsTC (p.Ser1555=)
c.4588_4589delinsTC (p.Ser1530=)
c.4486_4487delinsTC (p.Ser1496=)
c.4117_4118delinsTC (p.Ser1373=)
5g.112840561C>ACA16032205APCc.5021C>A (p.Ser1674Tyr)
c.*4973C>A (n.*4973C>A)
c.4913C>A (p.Ser1638Tyr)
c.4967C>A (p.Ser1656Tyr)
c.*4289C>A (n.*4289C>A)
c.230+11589C>A
c.4997C>A (p.Ser1666Tyr)
c.4892C>A (p.Ser1631Tyr)
c.4883C>A (p.Ser1628Tyr)
c.4844C>A (p.Ser1615Tyr)
c.4790C>A (p.Ser1597Tyr)
c.4694C>A (p.Ser1565Tyr)
c.4664C>A (p.Ser1555Tyr)
c.4589C>A (p.Ser1530Tyr)
c.4487C>A (p.Ser1496Tyr)
c.4118C>A (p.Ser1373Tyr)
5g.112840561C=CA1573472759APCc.5021C= (p.Ser1674=)
c.*4973C= (n.*4973C=)
c.4913C= (p.Ser1638=)
c.4967C= (p.Ser1656=)
c.*4289C= (n.*4289C=)
c.230+11589C=
c.4997C= (p.Ser1666=)
c.4892C= (p.Ser1631=)
c.4883C= (p.Ser1628=)
c.4844C= (p.Ser1615=)
c.4790C= (p.Ser1597=)
c.4694C= (p.Ser1565=)
c.4664C= (p.Ser1555=)
c.4589C= (p.Ser1530=)
c.4487C= (p.Ser1496=)
c.4118C= (p.Ser1373=)
5g.112840561C>GCA16032206APCc.5021C>G (p.Ser1674Cys)
c.*4973C>G (n.*4973C>G)
c.4913C>G (p.Ser1638Cys)
c.4967C>G (p.Ser1656Cys)
c.*4289C>G (n.*4289C>G)
c.230+11589C>G
c.4997C>G (p.Ser1666Cys)
c.4892C>G (p.Ser1631Cys)
c.4883C>G (p.Ser1628Cys)
c.4844C>G (p.Ser1615Cys)
c.4790C>G (p.Ser1597Cys)
c.4694C>G (p.Ser1565Cys)
c.4664C>G (p.Ser1555Cys)
c.4589C>G (p.Ser1530Cys)
c.4487C>G (p.Ser1496Cys)
c.4118C>G (p.Ser1373Cys)
 dbSNP
5g.112840561C>TCA16032207APCc.5021C>T (p.Ser1674Phe)
c.*4973C>T (n.*4973C>T)
c.4913C>T (p.Ser1638Phe)
c.4967C>T (p.Ser1656Phe)
c.*4289C>T (n.*4289C>T)
c.230+11589C>T
c.4997C>T (p.Ser1666Phe)
c.4892C>T (p.Ser1631Phe)
c.4883C>T (p.Ser1628Phe)
c.4844C>T (p.Ser1615Phe)
c.4790C>T (p.Ser1597Phe)
c.4694C>T (p.Ser1565Phe)
c.4664C>T (p.Ser1555Phe)
c.4589C>T (p.Ser1530Phe)
c.4487C>T (p.Ser1496Phe)
c.4118C>T (p.Ser1373Phe)
 dbSNP COSMIC
5g.112840562T>ACA446208726APCc.5022T>A (p.Ser1674=)
c.*4974T>A (n.*4974T>A)
c.4914T>A (p.Ser1638=)
c.4968T>A (p.Ser1656=)
c.*4290T>A (n.*4290T>A)
c.230+11590T>A
c.4998T>A (p.Ser1666=)
c.4893T>A (p.Ser1631=)
c.4884T>A (p.Ser1628=)
c.4845T>A (p.Ser1615=)
c.4791T>A (p.Ser1597=)
c.4695T>A (p.Ser1565=)
c.4665T>A (p.Ser1555=)
c.4590T>A (p.Ser1530=)
c.4488T>A (p.Ser1496=)
c.4119T>A (p.Ser1373=)
 dbSNP
5g.112840562T>CCA446208727APCc.5022T>C (p.Ser1674=)
c.*4974T>C (n.*4974T>C)
c.4914T>C (p.Ser1638=)
c.4968T>C (p.Ser1656=)
c.*4290T>C (n.*4290T>C)
c.230+11590T>C
c.4998T>C (p.Ser1666=)
c.4893T>C (p.Ser1631=)
c.4884T>C (p.Ser1628=)
c.4845T>C (p.Ser1615=)
c.4791T>C (p.Ser1597=)
c.4695T>C (p.Ser1565=)
c.4665T>C (p.Ser1555=)
c.4590T>C (p.Ser1530=)
c.4488T>C (p.Ser1496=)
c.4119T>C (p.Ser1373=)
 ClinVar dbSNP
5g.112840562T>GCA040297APCc.5022T>G (p.Ser1674=)
c.*4974T>G (n.*4974T>G)
c.4914T>G (p.Ser1638=)
c.4968T>G (p.Ser1656=)
c.*4290T>G (n.*4290T>G)
c.230+11590T>G
c.4998T>G (p.Ser1666=)
c.4893T>G (p.Ser1631=)
c.4884T>G (p.Ser1628=)
c.4845T>G (p.Ser1615=)
c.4791T>G (p.Ser1597=)
c.4695T>G (p.Ser1565=)
c.4665T>G (p.Ser1555=)
c.4590T>G (p.Ser1530=)
c.4488T>G (p.Ser1496=)
c.4119T>G (p.Ser1373=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840562T=CA1573472765APCc.5022T= (p.Ser1674=)
c.*4974T= (n.*4974T=)
c.4914T= (p.Ser1638=)
c.4968T= (p.Ser1656=)
c.*4290T= (n.*4290T=)
c.230+11590T=
c.4998T= (p.Ser1666=)
c.4893T= (p.Ser1631=)
c.4884T= (p.Ser1628=)
c.4845T= (p.Ser1615=)
c.4791T= (p.Ser1597=)
c.4695T= (p.Ser1565=)
c.4665T= (p.Ser1555=)
c.4590T= (p.Ser1530=)
c.4488T= (p.Ser1496=)
c.4119T= (p.Ser1373=)
5g.112840567_112840575delCA2580613638APCc.5027_5035del (p.Ser1676_Leu1678del)
c.*4979_*4987del (n.*4979_*4987del)
c.4919_4927del (p.Ser1640_Leu1642del)
c.4973_4981del (p.Ser1658_Leu1660del)
c.*4295_*4303del (n.*4295_*4303del)
c.230+11595_230+11603del
c.5003_5011del (p.Ser1668_Leu1670del)
c.4898_4906del (p.Ser1633_Leu1635del)
c.4889_4897del (p.Ser1630_Leu1632del)
c.4850_4858del (p.Ser1617_Leu1619del)
c.4796_4804del (p.Ser1599_Leu1601del)
c.4700_4708del (p.Ser1567_Leu1569del)
c.4670_4678del (p.Ser1557_Leu1559del)
c.4595_4603del (p.Ser1532_Leu1534del)
c.4493_4501del (p.Ser1498_Leu1500del)
c.4124_4132del (p.Ser1375_Leu1377del)
 ClinVar
5g.112840563C>ACA16032208APCc.5023C>A (p.Leu1675Ile)
c.*4975C>A (n.*4975C>A)
c.4915C>A (p.Leu1639Ile)
c.4969C>A (p.Leu1657Ile)
c.*4291C>A (n.*4291C>A)
c.230+11591C>A
c.4999C>A (p.Leu1667Ile)
c.4894C>A (p.Leu1632Ile)
c.4885C>A (p.Leu1629Ile)
c.4846C>A (p.Leu1616Ile)
c.4792C>A (p.Leu1598Ile)
c.4696C>A (p.Leu1566Ile)
c.4666C>A (p.Leu1556Ile)
c.4591C>A (p.Leu1531Ile)
c.4489C>A (p.Leu1497Ile)
c.4120C>A (p.Leu1374Ile)
 dbSNP gnomAD v2
5g.112840563C=CA1573472787APCc.5023C= (p.Leu1675=)
c.*4975C= (n.*4975C=)
c.4915C= (p.Leu1639=)
c.4969C= (p.Leu1657=)
c.*4291C= (n.*4291C=)
c.230+11591C=
c.4999C= (p.Leu1667=)
c.4894C= (p.Leu1632=)
c.4885C= (p.Leu1629=)
c.4846C= (p.Leu1616=)
c.4792C= (p.Leu1598=)
c.4696C= (p.Leu1566=)
c.4666C= (p.Leu1556=)
c.4591C= (p.Leu1531=)
c.4489C= (p.Leu1497=)
c.4120C= (p.Leu1374=)
5g.112840563C>GCA16032209APCc.5023C>G (p.Leu1675Val)
c.*4975C>G (n.*4975C>G)
c.4915C>G (p.Leu1639Val)
c.4969C>G (p.Leu1657Val)
c.*4291C>G (n.*4291C>G)
c.230+11591C>G
c.4999C>G (p.Leu1667Val)
c.4894C>G (p.Leu1632Val)
c.4885C>G (p.Leu1629Val)
c.4846C>G (p.Leu1616Val)
c.4792C>G (p.Leu1598Val)
c.4696C>G (p.Leu1566Val)
c.4666C>G (p.Leu1556Val)
c.4591C>G (p.Leu1531Val)
c.4489C>G (p.Leu1497Val)
c.4120C>G (p.Leu1374Val)
 ClinVar dbSNP
5g.112840563C>TCA446208728APCc.5023C>T (p.Leu1675=)
c.*4975C>T (n.*4975C>T)
c.4915C>T (p.Leu1639=)
c.4969C>T (p.Leu1657=)
c.*4291C>T (n.*4291C>T)
c.230+11591C>T
c.4999C>T (p.Leu1667=)
c.4894C>T (p.Leu1632=)
c.4885C>T (p.Leu1629=)
c.4846C>T (p.Leu1616=)
c.4792C>T (p.Leu1598=)
c.4696C>T (p.Leu1566=)
c.4666C>T (p.Leu1556=)
c.4591C>T (p.Leu1531=)
c.4489C>T (p.Leu1497=)
c.4120C>T (p.Leu1374=)
 ClinVar dbSNP gnomAD v4
5g.112840563_112840574delCA2573138714APCc.5023_5034del (p.Leu1675_Leu1678del)
c.*4975_*4986del (n.*4975_*4986del)
c.4915_4926del (p.Leu1639_Leu1642del)
c.4969_4980del (p.Leu1657_Leu1660del)
c.*4291_*4302del (n.*4291_*4302del)
c.230+11591_230+11602del
c.4999_5010del (p.Leu1667_Leu1670del)
c.4894_4905del (p.Leu1632_Leu1635del)
c.4885_4896del (p.Leu1629_Leu1632del)
c.4846_4857del (p.Leu1616_Leu1619del)
c.4792_4803del (p.Leu1598_Leu1601del)
c.4696_4707del (p.Leu1566_Leu1569del)
c.4666_4677del (p.Leu1556_Leu1559del)
c.4591_4602del (p.Leu1531_Leu1534del)
c.4489_4500del (p.Leu1497_Leu1500del)
c.4120_4131del (p.Leu1374_Leu1377del)
 ClinVar dbSNP
5g.112840563_112840564insGCA658822519APCc.5023_5024insG (p.Leu1675ArgfsTer3)
c.*4975_*4976insG (n.*4975_*4976insG)
c.4915_4916insG (p.Leu1639ArgfsTer3)
c.4969_4970insG (p.Leu1657ArgfsTer3)
c.*4291_*4292insG (n.*4291_*4292insG)
c.230+11591_230+11592insG
c.4999_5000insG (p.Leu1667ArgfsTer3)
c.4894_4895insG (p.Leu1632ArgfsTer3)
c.4885_4886insG (p.Leu1629ArgfsTer3)
c.4846_4847insG (p.Leu1616ArgfsTer3)
c.4792_4793insG (p.Leu1598ArgfsTer3)
c.4696_4697insG (p.Leu1566ArgfsTer3)
c.4666_4667insG (p.Leu1556ArgfsTer3)
c.4591_4592insG (p.Leu1531ArgfsTer3)
c.4489_4490insG (p.Leu1497ArgfsTer3)
c.4120_4121insG (p.Leu1374ArgfsTer3)
 ClinVar dbSNP
5g.112840564T>ACA16032210APCc.5024T>A (p.Leu1675Gln)
c.*4976T>A (n.*4976T>A)
c.4916T>A (p.Leu1639Gln)
c.4970T>A (p.Leu1657Gln)
c.*4292T>A (n.*4292T>A)
c.230+11592T>A
c.5000T>A (p.Leu1667Gln)
c.4895T>A (p.Leu1632Gln)
c.4886T>A (p.Leu1629Gln)
c.4847T>A (p.Leu1616Gln)
c.4793T>A (p.Leu1598Gln)
c.4697T>A (p.Leu1566Gln)
c.4667T>A (p.Leu1556Gln)
c.4592T>A (p.Leu1531Gln)
c.4490T>A (p.Leu1497Gln)
c.4121T>A (p.Leu1374Gln)
5g.112840564T>CCA16032211APCc.5024T>C (p.Leu1675Pro)
c.*4976T>C (n.*4976T>C)
c.4916T>C (p.Leu1639Pro)
c.4970T>C (p.Leu1657Pro)
c.*4292T>C (n.*4292T>C)
c.230+11592T>C
c.5000T>C (p.Leu1667Pro)
c.4895T>C (p.Leu1632Pro)
c.4886T>C (p.Leu1629Pro)
c.4847T>C (p.Leu1616Pro)
c.4793T>C (p.Leu1598Pro)
c.4697T>C (p.Leu1566Pro)
c.4667T>C (p.Leu1556Pro)
c.4592T>C (p.Leu1531Pro)
c.4490T>C (p.Leu1497Pro)
c.4121T>C (p.Leu1374Pro)
5g.112840564T>GCA16032212APCc.5024T>G (p.Leu1675Arg)
c.*4976T>G (n.*4976T>G)
c.4916T>G (p.Leu1639Arg)
c.4970T>G (p.Leu1657Arg)
c.*4292T>G (n.*4292T>G)
c.230+11592T>G
c.5000T>G (p.Leu1667Arg)
c.4895T>G (p.Leu1632Arg)
c.4886T>G (p.Leu1629Arg)
c.4847T>G (p.Leu1616Arg)
c.4793T>G (p.Leu1598Arg)
c.4697T>G (p.Leu1566Arg)
c.4667T>G (p.Leu1556Arg)
c.4592T>G (p.Leu1531Arg)
c.4490T>G (p.Leu1497Arg)
c.4121T>G (p.Leu1374Arg)
5g.112840564dupCA658655957APCc.5024dup (p.Ser1676LysfsTer2)
c.*4976dup (n.*4976dup)
c.4916dup (p.Ser1640LysfsTer2)
c.4970dup (p.Ser1658LysfsTer2)
c.*4292dup (n.*4292dup)
c.230+11592dup
c.5000dup (p.Ser1668LysfsTer2)
c.4895dup (p.Ser1633LysfsTer2)
c.4886dup (p.Ser1630LysfsTer2)
c.4847dup (p.Ser1617LysfsTer2)
c.4793dup (p.Ser1599LysfsTer2)
c.4697dup (p.Ser1567LysfsTer2)
c.4667dup (p.Ser1557LysfsTer2)
c.4592dup (p.Ser1532LysfsTer2)
c.4490dup (p.Ser1498LysfsTer2)
c.4121dup (p.Ser1375LysfsTer2)
 ClinVar dbSNP
5g.112840565A>CCA446208729APCc.5025A>C (p.Leu1675=)
c.*4977A>C (n.*4977A>C)
c.4917A>C (p.Leu1639=)
c.4971A>C (p.Leu1657=)
c.*4293A>C (n.*4293A>C)
c.230+11593A>C
c.5001A>C (p.Leu1667=)
c.4896A>C (p.Leu1632=)
c.4887A>C (p.Leu1629=)
c.4848A>C (p.Leu1616=)
c.4794A>C (p.Leu1598=)
c.4698A>C (p.Leu1566=)
c.4668A>C (p.Leu1556=)
c.4593A>C (p.Leu1531=)
c.4491A>C (p.Leu1497=)
c.4122A>C (p.Leu1374=)
5g.112840565A>GCA446208730APCc.5025A>G (p.Leu1675=)
c.*4977A>G (n.*4977A>G)
c.4917A>G (p.Leu1639=)
c.4971A>G (p.Leu1657=)
c.*4293A>G (n.*4293A>G)
c.230+11593A>G
c.5001A>G (p.Leu1667=)
c.4896A>G (p.Leu1632=)
c.4887A>G (p.Leu1629=)
c.4848A>G (p.Leu1616=)
c.4794A>G (p.Leu1598=)
c.4698A>G (p.Leu1566=)
c.4668A>G (p.Leu1556=)
c.4593A>G (p.Leu1531=)
c.4491A>G (p.Leu1497=)
c.4122A>G (p.Leu1374=)
 ClinVar dbSNP
5g.112840565A>TCA446208731APCc.5025A>T (p.Leu1675=)
c.*4977A>T (n.*4977A>T)
c.4917A>T (p.Leu1639=)
c.4971A>T (p.Leu1657=)
c.*4293A>T (n.*4293A>T)
c.230+11593A>T
c.5001A>T (p.Leu1667=)
c.4896A>T (p.Leu1632=)
c.4887A>T (p.Leu1629=)
c.4848A>T (p.Leu1616=)
c.4794A>T (p.Leu1598=)
c.4698A>T (p.Leu1566=)
c.4668A>T (p.Leu1556=)
c.4593A>T (p.Leu1531=)
c.4491A>T (p.Leu1497=)
c.4122A>T (p.Leu1374=)
 dbSNP
5g.112840566A=CA1573472807APCc.5026A= (p.Ser1676=)
c.*4978A= (n.*4978A=)
c.4918A= (p.Ser1640=)
c.4972A= (p.Ser1658=)
c.*4294A= (n.*4294A=)
c.230+11594A=
c.5002A= (p.Ser1668=)
c.4897A= (p.Ser1633=)
c.4888A= (p.Ser1630=)
c.4849A= (p.Ser1617=)
c.4795A= (p.Ser1599=)
c.4699A= (p.Ser1567=)
c.4669A= (p.Ser1557=)
c.4594A= (p.Ser1532=)
c.4492A= (p.Ser1498=)
c.4123A= (p.Ser1375=)
5g.112840566A>CCA16032213APCc.5026A>C (p.Ser1676Arg)
c.*4978A>C (n.*4978A>C)
c.4918A>C (p.Ser1640Arg)
c.4972A>C (p.Ser1658Arg)
c.*4294A>C (n.*4294A>C)
c.230+11594A>C
c.5002A>C (p.Ser1668Arg)
c.4897A>C (p.Ser1633Arg)
c.4888A>C (p.Ser1630Arg)
c.4849A>C (p.Ser1617Arg)
c.4795A>C (p.Ser1599Arg)
c.4699A>C (p.Ser1567Arg)
c.4669A>C (p.Ser1557Arg)
c.4594A>C (p.Ser1532Arg)
c.4492A>C (p.Ser1498Arg)
c.4123A>C (p.Ser1375Arg)
 ClinVar dbSNP
5g.112840566A>GCA16032214APCc.5026A>G (p.Ser1676Gly)
c.*4978A>G (n.*4978A>G)
c.4918A>G (p.Ser1640Gly)
c.4972A>G (p.Ser1658Gly)
c.*4294A>G (n.*4294A>G)
c.230+11594A>G
c.5002A>G (p.Ser1668Gly)
c.4897A>G (p.Ser1633Gly)
c.4888A>G (p.Ser1630Gly)
c.4849A>G (p.Ser1617Gly)
c.4795A>G (p.Ser1599Gly)
c.4699A>G (p.Ser1567Gly)
c.4669A>G (p.Ser1557Gly)
c.4594A>G (p.Ser1532Gly)
c.4492A>G (p.Ser1498Gly)
c.4123A>G (p.Ser1375Gly)
5g.112840566A>TCA16032215APCc.5026A>T (p.Ser1676Cys)
c.*4978A>T (n.*4978A>T)
c.4918A>T (p.Ser1640Cys)
c.4972A>T (p.Ser1658Cys)
c.*4294A>T (n.*4294A>T)
c.230+11594A>T
c.5002A>T (p.Ser1668Cys)
c.4897A>T (p.Ser1633Cys)
c.4888A>T (p.Ser1630Cys)
c.4849A>T (p.Ser1617Cys)
c.4795A>T (p.Ser1599Cys)
c.4699A>T (p.Ser1567Cys)
c.4669A>T (p.Ser1557Cys)
c.4594A>T (p.Ser1532Cys)
c.4492A>T (p.Ser1498Cys)
c.4123A>T (p.Ser1375Cys)
5g.112840567G>ACA16032216APCc.5027G>A (p.Ser1676Asn)
c.*4979G>A (n.*4979G>A)
c.4919G>A (p.Ser1640Asn)
c.4973G>A (p.Ser1658Asn)
c.*4295G>A (n.*4295G>A)
c.230+11595G>A
c.5003G>A (p.Ser1668Asn)
c.4898G>A (p.Ser1633Asn)
c.4889G>A (p.Ser1630Asn)
c.4850G>A (p.Ser1617Asn)
c.4796G>A (p.Ser1599Asn)
c.4700G>A (p.Ser1567Asn)
c.4670G>A (p.Ser1557Asn)
c.4595G>A (p.Ser1532Asn)
c.4493G>A (p.Ser1498Asn)
c.4124G>A (p.Ser1375Asn)
5g.112840567G>CCA16032217APCc.5027G>C (p.Ser1676Thr)
c.*4979G>C (n.*4979G>C)
c.4919G>C (p.Ser1640Thr)
c.4973G>C (p.Ser1658Thr)
c.*4295G>C (n.*4295G>C)
c.230+11595G>C
c.5003G>C (p.Ser1668Thr)
c.4898G>C (p.Ser1633Thr)
c.4889G>C (p.Ser1630Thr)
c.4850G>C (p.Ser1617Thr)
c.4796G>C (p.Ser1599Thr)
c.4700G>C (p.Ser1567Thr)
c.4670G>C (p.Ser1557Thr)
c.4595G>C (p.Ser1532Thr)
c.4493G>C (p.Ser1498Thr)
c.4124G>C (p.Ser1375Thr)
 ClinVar dbSNP
5g.112840567G=CA1573472814APCc.5027G= (p.Ser1676=)
c.*4979G= (n.*4979G=)
c.4919G= (p.Ser1640=)
c.4973G= (p.Ser1658=)
c.*4295G= (n.*4295G=)
c.230+11595G=
c.5003G= (p.Ser1668=)
c.4898G= (p.Ser1633=)
c.4889G= (p.Ser1630=)
c.4850G= (p.Ser1617=)
c.4796G= (p.Ser1599=)
c.4700G= (p.Ser1567=)
c.4670G= (p.Ser1557=)
c.4595G= (p.Ser1532=)
c.4493G= (p.Ser1498=)
c.4124G= (p.Ser1375=)
5g.112840567G>TCA16032218APCc.5027G>T (p.Ser1676Ile)
c.*4979G>T (n.*4979G>T)
c.4919G>T (p.Ser1640Ile)
c.4973G>T (p.Ser1658Ile)
c.*4295G>T (n.*4295G>T)
c.230+11595G>T
c.5003G>T (p.Ser1668Ile)
c.4898G>T (p.Ser1633Ile)
c.4889G>T (p.Ser1630Ile)
c.4850G>T (p.Ser1617Ile)
c.4796G>T (p.Ser1599Ile)
c.4700G>T (p.Ser1567Ile)
c.4670G>T (p.Ser1557Ile)
c.4595G>T (p.Ser1532Ile)
c.4493G>T (p.Ser1498Ile)
c.4124G>T (p.Ser1375Ile)
5g.112840568T>ACA16032219APCc.5028T>A (p.Ser1676Arg)
c.*4980T>A (n.*4980T>A)
c.4920T>A (p.Ser1640Arg)
c.4974T>A (p.Ser1658Arg)
c.*4296T>A (n.*4296T>A)
c.230+11596T>A
c.5004T>A (p.Ser1668Arg)
c.4899T>A (p.Ser1633Arg)
c.4890T>A (p.Ser1630Arg)
c.4851T>A (p.Ser1617Arg)
c.4797T>A (p.Ser1599Arg)
c.4701T>A (p.Ser1567Arg)
c.4671T>A (p.Ser1557Arg)
c.4596T>A (p.Ser1532Arg)
c.4494T>A (p.Ser1498Arg)
c.4125T>A (p.Ser1375Arg)
 dbSNP
5g.112840568T>CCA446208732APCc.5028T>C (p.Ser1676=)
c.*4980T>C (n.*4980T>C)
c.4920T>C (p.Ser1640=)
c.4974T>C (p.Ser1658=)
c.*4296T>C (n.*4296T>C)
c.230+11596T>C
c.5004T>C (p.Ser1668=)
c.4899T>C (p.Ser1633=)
c.4890T>C (p.Ser1630=)
c.4851T>C (p.Ser1617=)
c.4797T>C (p.Ser1599=)
c.4701T>C (p.Ser1567=)
c.4671T>C (p.Ser1557=)
c.4596T>C (p.Ser1532=)
c.4494T>C (p.Ser1498=)
c.4125T>C (p.Ser1375=)
5g.112840568T>GCA16032220APCc.5028T>G (p.Ser1676Arg)
c.*4980T>G (n.*4980T>G)
c.4920T>G (p.Ser1640Arg)
c.4974T>G (p.Ser1658Arg)
c.*4296T>G (n.*4296T>G)
c.230+11596T>G
c.5004T>G (p.Ser1668Arg)
c.4899T>G (p.Ser1633Arg)
c.4890T>G (p.Ser1630Arg)
c.4851T>G (p.Ser1617Arg)
c.4797T>G (p.Ser1599Arg)
c.4701T>G (p.Ser1567Arg)
c.4671T>G (p.Ser1557Arg)
c.4596T>G (p.Ser1532Arg)
c.4494T>G (p.Ser1498Arg)
c.4125T>G (p.Ser1375Arg)
 dbSNP
5g.112840571_112840597dupCA16618088APCc.5031_5057dup (p.Asn1685_Glu1686insAspLeuThrIleGluSerProProAsn)
c.*4983_*5009dup (n.*4983_*5009dup)
c.4923_4949dup (p.Asn1649_Glu1650insAspLeuThrIleGluSerProProAsn)
c.4977_5003dup (p.Asn1667_Glu1668insAspLeuThrIleGluSerProProAsn)
c.*4299_*4325dup (n.*4299_*4325dup)
c.230+11599_230+11625dup
c.5007_5033dup (p.Asn1677_Glu1678insAspLeuThrIleGluSerProProAsn)
c.4902_4928dup (p.Asn1642_Glu1643insAspLeuThrIleGluSerProProAsn)
c.4893_4919dup (p.Asn1639_Glu1640insAspLeuThrIleGluSerProProAsn)
c.4854_4880dup (p.Asn1626_Glu1627insAspLeuThrIleGluSerProProAsn)
c.4800_4826dup (p.Asn1608_Glu1609insAspLeuThrIleGluSerProProAsn)
c.4704_4730dup (p.Asn1576_Glu1577insAspLeuThrIleGluSerProProAsn)
c.4674_4700dup (p.Asn1566_Glu1567insAspLeuThrIleGluSerProProAsn)
c.4599_4625dup (p.Asn1541_Glu1542insAspLeuThrIleGluSerProProAsn)
c.4497_4523dup (p.Asn1507_Glu1508insAspLeuThrIleGluSerProProAsn)
c.4128_4154dup (p.Asn1384_Glu1385insAspLeuThrIleGluSerProProAsn)
 ClinVar dbSNP
5g.112840569G>ACA040310APCc.5029G>A (p.Asp1677Asn)
c.*4981G>A (n.*4981G>A)
c.4921G>A (p.Asp1641Asn)
c.4975G>A (p.Asp1659Asn)
c.*4297G>A (n.*4297G>A)
c.230+11597G>A
c.5005G>A (p.Asp1669Asn)
c.4900G>A (p.Asp1634Asn)
c.4891G>A (p.Asp1631Asn)
c.4852G>A (p.Asp1618Asn)
c.4798G>A (p.Asp1600Asn)
c.4702G>A (p.Asp1568Asn)
c.4672G>A (p.Asp1558Asn)
c.4597G>A (p.Asp1533Asn)
c.4495G>A (p.Asp1499Asn)
c.4126G>A (p.Asp1376Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840569G>CCA16032221APCc.5029G>C (p.Asp1677His)
c.*4981G>C (n.*4981G>C)
c.4921G>C (p.Asp1641His)
c.4975G>C (p.Asp1659His)
c.*4297G>C (n.*4297G>C)
c.230+11597G>C
c.5005G>C (p.Asp1669His)
c.4900G>C (p.Asp1634His)
c.4891G>C (p.Asp1631His)
c.4852G>C (p.Asp1618His)
c.4798G>C (p.Asp1600His)
c.4702G>C (p.Asp1568His)
c.4672G>C (p.Asp1558His)
c.4597G>C (p.Asp1533His)
c.4495G>C (p.Asp1499His)
c.4126G>C (p.Asp1376His)
 ClinVar dbSNP
5g.112840569G=CA1573472824APCc.5029G= (p.Asp1677=)
c.*4981G= (n.*4981G=)
c.4921G= (p.Asp1641=)
c.4975G= (p.Asp1659=)
c.*4297G= (n.*4297G=)
c.230+11597G=
c.5005G= (p.Asp1669=)
c.4900G= (p.Asp1634=)
c.4891G= (p.Asp1631=)
c.4852G= (p.Asp1618=)
c.4798G= (p.Asp1600=)
c.4702G= (p.Asp1568=)
c.4672G= (p.Asp1558=)
c.4597G= (p.Asp1533=)
c.4495G= (p.Asp1499=)
c.4126G= (p.Asp1376=)
5g.112840569G>TCA16032222APCc.5029G>T (p.Asp1677Tyr)
c.*4981G>T (n.*4981G>T)
c.4921G>T (p.Asp1641Tyr)
c.4975G>T (p.Asp1659Tyr)
c.*4297G>T (n.*4297G>T)
c.230+11597G>T
c.5005G>T (p.Asp1669Tyr)
c.4900G>T (p.Asp1634Tyr)
c.4891G>T (p.Asp1631Tyr)
c.4852G>T (p.Asp1618Tyr)
c.4798G>T (p.Asp1600Tyr)
c.4702G>T (p.Asp1568Tyr)
c.4672G>T (p.Asp1558Tyr)
c.4597G>T (p.Asp1533Tyr)
c.4495G>T (p.Asp1499Tyr)
c.4126G>T (p.Asp1376Tyr)
 ClinVar dbSNP
5g.112840570A>CCA16032223APCc.5030A>C (p.Asp1677Ala)
c.*4982A>C (n.*4982A>C)
c.4922A>C (p.Asp1641Ala)
c.4976A>C (p.Asp1659Ala)
c.*4298A>C (n.*4298A>C)
c.230+11598A>C
c.5006A>C (p.Asp1669Ala)
c.4901A>C (p.Asp1634Ala)
c.4892A>C (p.Asp1631Ala)
c.4853A>C (p.Asp1618Ala)
c.4799A>C (p.Asp1600Ala)
c.4703A>C (p.Asp1568Ala)
c.4673A>C (p.Asp1558Ala)
c.4598A>C (p.Asp1533Ala)
c.4496A>C (p.Asp1499Ala)
c.4127A>C (p.Asp1376Ala)
 dbSNP
5g.112840570A>GCA16032224APCc.5030A>G (p.Asp1677Gly)
c.*4982A>G (n.*4982A>G)
c.4922A>G (p.Asp1641Gly)
c.4976A>G (p.Asp1659Gly)
c.*4298A>G (n.*4298A>G)
c.230+11598A>G
c.5006A>G (p.Asp1669Gly)
c.4901A>G (p.Asp1634Gly)
c.4892A>G (p.Asp1631Gly)
c.4853A>G (p.Asp1618Gly)
c.4799A>G (p.Asp1600Gly)
c.4703A>G (p.Asp1568Gly)
c.4673A>G (p.Asp1558Gly)
c.4598A>G (p.Asp1533Gly)
c.4496A>G (p.Asp1499Gly)
c.4127A>G (p.Asp1376Gly)
 dbSNP
5g.112840570A>TCA16032225APCc.5030A>T (p.Asp1677Val)
c.*4982A>T (n.*4982A>T)
c.4922A>T (p.Asp1641Val)
c.4976A>T (p.Asp1659Val)
c.*4298A>T (n.*4298A>T)
c.230+11598A>T
c.5006A>T (p.Asp1669Val)
c.4901A>T (p.Asp1634Val)
c.4892A>T (p.Asp1631Val)
c.4853A>T (p.Asp1618Val)
c.4799A>T (p.Asp1600Val)
c.4703A>T (p.Asp1568Val)
c.4673A>T (p.Asp1558Val)
c.4598A>T (p.Asp1533Val)
c.4496A>T (p.Asp1499Val)
c.4127A>T (p.Asp1376Val)
 dbSNP COSMIC
5g.112840571T>ACA16032226APCc.5031T>A (p.Asp1677Glu)
c.*4983T>A (n.*4983T>A)
c.4923T>A (p.Asp1641Glu)
c.4977T>A (p.Asp1659Glu)
c.*4299T>A (n.*4299T>A)
c.230+11599T>A
c.5007T>A (p.Asp1669Glu)
c.4902T>A (p.Asp1634Glu)
c.4893T>A (p.Asp1631Glu)
c.4854T>A (p.Asp1618Glu)
c.4800T>A (p.Asp1600Glu)
c.4704T>A (p.Asp1568Glu)
c.4674T>A (p.Asp1558Glu)
c.4599T>A (p.Asp1533Glu)
c.4497T>A (p.Asp1499Glu)
c.4128T>A (p.Asp1376Glu)
 dbSNP
5g.112840571T>CCA446208735APCc.5031T>C (p.Asp1677=)
c.*4983T>C (n.*4983T>C)
c.4923T>C (p.Asp1641=)
c.4977T>C (p.Asp1659=)
c.*4299T>C (n.*4299T>C)
c.230+11599T>C
c.5007T>C (p.Asp1669=)
c.4902T>C (p.Asp1634=)
c.4893T>C (p.Asp1631=)
c.4854T>C (p.Asp1618=)
c.4800T>C (p.Asp1600=)
c.4704T>C (p.Asp1568=)
c.4674T>C (p.Asp1558=)
c.4599T>C (p.Asp1533=)
c.4497T>C (p.Asp1499=)
c.4128T>C (p.Asp1376=)
 ClinVar dbSNP
5g.112840571T>GCA16032227APCc.5031T>G (p.Asp1677Glu)
c.*4983T>G (n.*4983T>G)
c.4923T>G (p.Asp1641Glu)
c.4977T>G (p.Asp1659Glu)
c.*4299T>G (n.*4299T>G)
c.230+11599T>G
c.5007T>G (p.Asp1669Glu)
c.4902T>G (p.Asp1634Glu)
c.4893T>G (p.Asp1631Glu)
c.4854T>G (p.Asp1618Glu)
c.4800T>G (p.Asp1600Glu)
c.4704T>G (p.Asp1568Glu)
c.4674T>G (p.Asp1558Glu)
c.4599T>G (p.Asp1533Glu)
c.4497T>G (p.Asp1499Glu)
c.4128T>G (p.Asp1376Glu)
 dbSNP
5g.112840572C>ACA16032228APCc.5032C>A (p.Leu1678Ile)
c.*4984C>A (n.*4984C>A)
c.4924C>A (p.Leu1642Ile)
c.4978C>A (p.Leu1660Ile)
c.*4300C>A (n.*4300C>A)
c.230+11600C>A
c.5008C>A (p.Leu1670Ile)
c.4903C>A (p.Leu1635Ile)
c.4894C>A (p.Leu1632Ile)
c.4855C>A (p.Leu1619Ile)
c.4801C>A (p.Leu1601Ile)
c.4705C>A (p.Leu1569Ile)
c.4675C>A (p.Leu1559Ile)
c.4600C>A (p.Leu1534Ile)
c.4498C>A (p.Leu1500Ile)
c.4129C>A (p.Leu1377Ile)
 dbSNP
5g.112840572C=CA1573472830APCc.5032C= (p.Leu1678=)
c.*4984C= (n.*4984C=)
c.4924C= (p.Leu1642=)
c.4978C= (p.Leu1660=)
c.*4300C= (n.*4300C=)
c.230+11600C=
c.5008C= (p.Leu1670=)
c.4903C= (p.Leu1635=)
c.4894C= (p.Leu1632=)
c.4855C= (p.Leu1619=)
c.4801C= (p.Leu1601=)
c.4705C= (p.Leu1569=)
c.4675C= (p.Leu1559=)
c.4600C= (p.Leu1534=)
c.4498C= (p.Leu1500=)
c.4129C= (p.Leu1377=)
5g.112840572C>GCA16032229APCc.5032C>G (p.Leu1678Val)
c.*4984C>G (n.*4984C>G)
c.4924C>G (p.Leu1642Val)
c.4978C>G (p.Leu1660Val)
c.*4300C>G (n.*4300C>G)
c.230+11600C>G
c.5008C>G (p.Leu1670Val)
c.4903C>G (p.Leu1635Val)
c.4894C>G (p.Leu1632Val)
c.4855C>G (p.Leu1619Val)
c.4801C>G (p.Leu1601Val)
c.4705C>G (p.Leu1569Val)
c.4675C>G (p.Leu1559Val)
c.4600C>G (p.Leu1534Val)
c.4498C>G (p.Leu1500Val)
c.4129C>G (p.Leu1377Val)
 ClinVar dbSNP gnomAD v4
5g.112840572C>TCA446208736APCc.5032C>T (p.Leu1678=)
c.*4984C>T (n.*4984C>T)
c.4924C>T (p.Leu1642=)
c.4978C>T (p.Leu1660=)
c.*4300C>T (n.*4300C>T)
c.230+11600C>T
c.5008C>T (p.Leu1670=)
c.4903C>T (p.Leu1635=)
c.4894C>T (p.Leu1632=)
c.4855C>T (p.Leu1619=)
c.4801C>T (p.Leu1601=)
c.4705C>T (p.Leu1569=)
c.4675C>T (p.Leu1559=)
c.4600C>T (p.Leu1534=)
c.4498C>T (p.Leu1500=)
c.4129C>T (p.Leu1377=)
 ClinVar dbSNP gnomAD v4
5g.112840573_112840576dupCA2580072603APCc.5033_5036dup (p.Ile1680AsnfsTer8)
c.*4985_*4988dup (n.*4985_*4988dup)
c.4925_4928dup (p.Ile1644AsnfsTer8)
c.4979_4982dup (p.Ile1662AsnfsTer8)
c.*4301_*4304dup (n.*4301_*4304dup)
c.230+11601_230+11604dup
c.5009_5012dup (p.Ile1672AsnfsTer8)
c.4904_4907dup (p.Ile1637AsnfsTer8)
c.4895_4898dup (p.Ile1634AsnfsTer8)
c.4856_4859dup (p.Ile1621AsnfsTer8)
c.4802_4805dup (p.Ile1603AsnfsTer8)
c.4706_4709dup (p.Ile1571AsnfsTer8)
c.4676_4679dup (p.Ile1561AsnfsTer8)
c.4601_4604dup (p.Ile1536AsnfsTer8)
c.4499_4502dup (p.Ile1502AsnfsTer8)
c.4130_4133dup (p.Ile1379AsnfsTer8)
 ClinVar
5g.112840573T>ACA16032230APCc.5033T>A (p.Leu1678Gln)
c.*4985T>A (n.*4985T>A)
c.4925T>A (p.Leu1642Gln)
c.4979T>A (p.Leu1660Gln)
c.*4301T>A (n.*4301T>A)
c.230+11601T>A
c.5009T>A (p.Leu1670Gln)
c.4904T>A (p.Leu1635Gln)
c.4895T>A (p.Leu1632Gln)
c.4856T>A (p.Leu1619Gln)
c.4802T>A (p.Leu1601Gln)
c.4706T>A (p.Leu1569Gln)
c.4676T>A (p.Leu1559Gln)
c.4601T>A (p.Leu1534Gln)
c.4499T>A (p.Leu1500Gln)
c.4130T>A (p.Leu1377Gln)
5g.112840573T>CCA16032231APCc.5033T>C (p.Leu1678Pro)
c.*4985T>C (n.*4985T>C)
c.4925T>C (p.Leu1642Pro)
c.4979T>C (p.Leu1660Pro)
c.*4301T>C (n.*4301T>C)
c.230+11601T>C
c.5009T>C (p.Leu1670Pro)
c.4904T>C (p.Leu1635Pro)
c.4895T>C (p.Leu1632Pro)
c.4856T>C (p.Leu1619Pro)
c.4802T>C (p.Leu1601Pro)
c.4706T>C (p.Leu1569Pro)
c.4676T>C (p.Leu1559Pro)
c.4601T>C (p.Leu1534Pro)
c.4499T>C (p.Leu1500Pro)
c.4130T>C (p.Leu1377Pro)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112840573T>GCA16032232APCc.5033T>G (p.Leu1678Arg)
c.*4985T>G (n.*4985T>G)
c.4925T>G (p.Leu1642Arg)
c.4979T>G (p.Leu1660Arg)
c.*4301T>G (n.*4301T>G)
c.230+11601T>G
c.5009T>G (p.Leu1670Arg)
c.4904T>G (p.Leu1635Arg)
c.4895T>G (p.Leu1632Arg)
c.4856T>G (p.Leu1619Arg)
c.4802T>G (p.Leu1601Arg)
c.4706T>G (p.Leu1569Arg)
c.4676T>G (p.Leu1559Arg)
c.4601T>G (p.Leu1534Arg)
c.4499T>G (p.Leu1500Arg)
c.4130T>G (p.Leu1377Arg)
5g.112840573T=CA1573472833APCc.5033T= (p.Leu1678=)
c.*4985T= (n.*4985T=)
c.4925T= (p.Leu1642=)
c.4979T= (p.Leu1660=)
c.*4301T= (n.*4301T=)
c.230+11601T=
c.5009T= (p.Leu1670=)
c.4904T= (p.Leu1635=)
c.4895T= (p.Leu1632=)
c.4856T= (p.Leu1619=)
c.4802T= (p.Leu1601=)
c.4706T= (p.Leu1569=)
c.4676T= (p.Leu1559=)
c.4601T= (p.Leu1534=)
c.4499T= (p.Leu1500=)
c.4130T= (p.Leu1377=)
5g.112840574A=CA1573472846APCc.5034A= (p.Leu1678=)
c.*4986A= (n.*4986A=)
c.4926A= (p.Leu1642=)
c.4980A= (p.Leu1660=)
c.*4302A= (n.*4302A=)
c.230+11602A=
c.5010A= (p.Leu1670=)
c.4905A= (p.Leu1635=)
c.4896A= (p.Leu1632=)
c.4857A= (p.Leu1619=)
c.4803A= (p.Leu1601=)
c.4707A= (p.Leu1569=)
c.4677A= (p.Leu1559=)
c.4602A= (p.Leu1534=)
c.4500A= (p.Leu1500=)
c.4131A= (p.Leu1377=)
5g.112840574A>CCA446208737APCc.5034A>C (p.Leu1678=)
c.*4986A>C (n.*4986A>C)
c.4926A>C (p.Leu1642=)
c.4980A>C (p.Leu1660=)
c.*4302A>C (n.*4302A>C)
c.230+11602A>C
c.5010A>C (p.Leu1670=)
c.4905A>C (p.Leu1635=)
c.4896A>C (p.Leu1632=)
c.4857A>C (p.Leu1619=)
c.4803A>C (p.Leu1601=)
c.4707A>C (p.Leu1569=)
c.4677A>C (p.Leu1559=)
c.4602A>C (p.Leu1534=)
c.4500A>C (p.Leu1500=)
c.4131A>C (p.Leu1377=)
5g.112840574A>GCA336406APCc.5034A>G (p.Leu1678=)
c.*4986A>G (n.*4986A>G)
c.4926A>G (p.Leu1642=)
c.4980A>G (p.Leu1660=)
c.*4302A>G (n.*4302A>G)
c.230+11602A>G
c.5010A>G (p.Leu1670=)
c.4905A>G (p.Leu1635=)
c.4896A>G (p.Leu1632=)
c.4857A>G (p.Leu1619=)
c.4803A>G (p.Leu1601=)
c.4707A>G (p.Leu1569=)
c.4677A>G (p.Leu1559=)
c.4602A>G (p.Leu1534=)
c.4500A>G (p.Leu1500=)
c.4131A>G (p.Leu1377=)
 ClinVar dbSNP
5g.112840574A>TCA446208738APCc.5034A>T (p.Leu1678=)
c.*4986A>T (n.*4986A>T)
c.4926A>T (p.Leu1642=)
c.4980A>T (p.Leu1660=)
c.*4302A>T (n.*4302A>T)
c.230+11602A>T
c.5010A>T (p.Leu1670=)
c.4905A>T (p.Leu1635=)
c.4896A>T (p.Leu1632=)
c.4857A>T (p.Leu1619=)
c.4803A>T (p.Leu1601=)
c.4707A>T (p.Leu1569=)
c.4677A>T (p.Leu1559=)
c.4602A>T (p.Leu1534=)
c.4500A>T (p.Leu1500=)
c.4131A>T (p.Leu1377=)
 dbSNP
5g.112840575A>CCA16032233APCc.5035A>C (p.Thr1679Pro)
c.*4987A>C (n.*4987A>C)
c.4927A>C (p.Thr1643Pro)
c.4981A>C (p.Thr1661Pro)
c.*4303A>C (n.*4303A>C)
c.230+11603A>C
c.5011A>C (p.Thr1671Pro)
c.4906A>C (p.Thr1636Pro)
c.4897A>C (p.Thr1633Pro)
c.4858A>C (p.Thr1620Pro)
c.4804A>C (p.Thr1602Pro)
c.4708A>C (p.Thr1570Pro)
c.4678A>C (p.Thr1560Pro)
c.4603A>C (p.Thr1535Pro)
c.4501A>C (p.Thr1501Pro)
c.4132A>C (p.Thr1378Pro)
5g.112840575A>GCA16032234APCc.5035A>G (p.Thr1679Ala)
c.*4987A>G (n.*4987A>G)
c.4927A>G (p.Thr1643Ala)
c.4981A>G (p.Thr1661Ala)
c.*4303A>G (n.*4303A>G)
c.230+11603A>G
c.5011A>G (p.Thr1671Ala)
c.4906A>G (p.Thr1636Ala)
c.4897A>G (p.Thr1633Ala)
c.4858A>G (p.Thr1620Ala)
c.4804A>G (p.Thr1602Ala)
c.4708A>G (p.Thr1570Ala)
c.4678A>G (p.Thr1560Ala)
c.4603A>G (p.Thr1535Ala)
c.4501A>G (p.Thr1501Ala)
c.4132A>G (p.Thr1378Ala)
5g.112840575A>TCA16032235APCc.5035A>T (p.Thr1679Ser)
c.*4987A>T (n.*4987A>T)
c.4927A>T (p.Thr1643Ser)
c.4981A>T (p.Thr1661Ser)
c.*4303A>T (n.*4303A>T)
c.230+11603A>T
c.5011A>T (p.Thr1671Ser)
c.4906A>T (p.Thr1636Ser)
c.4897A>T (p.Thr1633Ser)
c.4858A>T (p.Thr1620Ser)
c.4804A>T (p.Thr1602Ser)
c.4708A>T (p.Thr1570Ser)
c.4678A>T (p.Thr1560Ser)
c.4603A>T (p.Thr1535Ser)
c.4501A>T (p.Thr1501Ser)
c.4132A>T (p.Thr1378Ser)
5g.112840576C>ACA16032236APCc.5036C>A (p.Thr1679Lys)
c.*4988C>A (n.*4988C>A)
c.4928C>A (p.Thr1643Lys)
c.4982C>A (p.Thr1661Lys)
c.*4304C>A (n.*4304C>A)
c.230+11604C>A
c.5012C>A (p.Thr1671Lys)
c.4907C>A (p.Thr1636Lys)
c.4898C>A (p.Thr1633Lys)
c.4859C>A (p.Thr1620Lys)
c.4805C>A (p.Thr1602Lys)
c.4709C>A (p.Thr1570Lys)
c.4679C>A (p.Thr1560Lys)
c.4604C>A (p.Thr1535Lys)
c.4502C>A (p.Thr1501Lys)
c.4133C>A (p.Thr1378Lys)
 dbSNP
5g.112840576C=CA1573472868APCc.5036C= (p.Thr1679=)
c.*4988C= (n.*4988C=)
c.4928C= (p.Thr1643=)
c.4982C= (p.Thr1661=)
c.*4304C= (n.*4304C=)
c.230+11604C=
c.5012C= (p.Thr1671=)
c.4907C= (p.Thr1636=)
c.4898C= (p.Thr1633=)
c.4859C= (p.Thr1620=)
c.4805C= (p.Thr1602=)
c.4709C= (p.Thr1570=)
c.4679C= (p.Thr1560=)
c.4604C= (p.Thr1535=)
c.4502C= (p.Thr1501=)
c.4133C= (p.Thr1378=)
5g.112840576C>GCA16032237APCc.5036C>G (p.Thr1679Arg)
c.*4988C>G (n.*4988C>G)
c.4928C>G (p.Thr1643Arg)
c.4982C>G (p.Thr1661Arg)
c.*4304C>G (n.*4304C>G)
c.230+11604C>G
c.5012C>G (p.Thr1671Arg)
c.4907C>G (p.Thr1636Arg)
c.4898C>G (p.Thr1633Arg)
c.4859C>G (p.Thr1620Arg)
c.4805C>G (p.Thr1602Arg)
c.4709C>G (p.Thr1570Arg)
c.4679C>G (p.Thr1560Arg)
c.4604C>G (p.Thr1535Arg)
c.4502C>G (p.Thr1501Arg)
c.4133C>G (p.Thr1378Arg)
 dbSNP
5g.112840576C>TCA16032238APCc.5036C>T (p.Thr1679Ile)
c.*4988C>T (n.*4988C>T)
c.4928C>T (p.Thr1643Ile)
c.4982C>T (p.Thr1661Ile)
c.*4304C>T (n.*4304C>T)
c.230+11604C>T
c.5012C>T (p.Thr1671Ile)
c.4907C>T (p.Thr1636Ile)
c.4898C>T (p.Thr1633Ile)
c.4859C>T (p.Thr1620Ile)
c.4805C>T (p.Thr1602Ile)
c.4709C>T (p.Thr1570Ile)
c.4679C>T (p.Thr1560Ile)
c.4604C>T (p.Thr1535Ile)
c.4502C>T (p.Thr1501Ile)
c.4133C>T (p.Thr1378Ile)
 dbSNP
5g.112840576_112840577insTACA658760794APCc.5036_5037insTA (p.Ile1680LysfsTer9)
c.*4988_*4989insTA (n.*4988_*4989insTA)
c.4928_4929insTA (p.Ile1644LysfsTer9)
c.4982_4983insTA (p.Ile1662LysfsTer9)
c.*4304_*4305insTA (n.*4304_*4305insTA)
c.230+11604_230+11605insTA
c.5012_5013insTA (p.Ile1672LysfsTer9)
c.4907_4908insTA (p.Ile1637LysfsTer9)
c.4898_4899insTA (p.Ile1634LysfsTer9)
c.4859_4860insTA (p.Ile1621LysfsTer9)
c.4805_4806insTA (p.Ile1603LysfsTer9)
c.4709_4710insTA (p.Ile1571LysfsTer9)
c.4679_4680insTA (p.Ile1561LysfsTer9)
c.4604_4605insTA (p.Ile1536LysfsTer9)
c.4502_4503insTA (p.Ile1502LysfsTer9)
c.4133_4134insTA (p.Ile1379LysfsTer9)
5g.112840577A=CA1573472874APCc.5037A= (p.Thr1679=)
c.*4989A= (n.*4989A=)
c.4929A= (p.Thr1643=)
c.4983A= (p.Thr1661=)
c.*4305A= (n.*4305A=)
c.230+11605A=
c.5013A= (p.Thr1671=)
c.4908A= (p.Thr1636=)
c.4899A= (p.Thr1633=)
c.4860A= (p.Thr1620=)
c.4806A= (p.Thr1602=)
c.4710A= (p.Thr1570=)
c.4680A= (p.Thr1560=)
c.4605A= (p.Thr1535=)
c.4503A= (p.Thr1501=)
c.4134A= (p.Thr1378=)
5g.112840577A>CCA446208739APCc.5037A>C (p.Thr1679=)
c.*4989A>C (n.*4989A>C)
c.4929A>C (p.Thr1643=)
c.4983A>C (p.Thr1661=)
c.*4305A>C (n.*4305A>C)
c.230+11605A>C
c.5013A>C (p.Thr1671=)
c.4908A>C (p.Thr1636=)
c.4899A>C (p.Thr1633=)
c.4860A>C (p.Thr1620=)
c.4806A>C (p.Thr1602=)
c.4710A>C (p.Thr1570=)
c.4680A>C (p.Thr1560=)
c.4605A>C (p.Thr1535=)
c.4503A>C (p.Thr1501=)
c.4134A>C (p.Thr1378=)
 ClinVar
5g.112840577A>GCA446208740APCc.5037A>G (p.Thr1679=)
c.*4989A>G (n.*4989A>G)
c.4929A>G (p.Thr1643=)
c.4983A>G (p.Thr1661=)
c.*4305A>G (n.*4305A>G)
c.230+11605A>G
c.5013A>G (p.Thr1671=)
c.4908A>G (p.Thr1636=)
c.4899A>G (p.Thr1633=)
c.4860A>G (p.Thr1620=)
c.4806A>G (p.Thr1602=)
c.4710A>G (p.Thr1570=)
c.4680A>G (p.Thr1560=)
c.4605A>G (p.Thr1535=)
c.4503A>G (p.Thr1501=)
c.4134A>G (p.Thr1378=)
 ClinVar dbSNP
5g.112840577A>TCA446208741APCc.5037A>T (p.Thr1679=)
c.*4989A>T (n.*4989A>T)
c.4929A>T (p.Thr1643=)
c.4983A>T (p.Thr1661=)
c.*4305A>T (n.*4305A>T)
c.230+11605A>T
c.5013A>T (p.Thr1671=)
c.4908A>T (p.Thr1636=)
c.4899A>T (p.Thr1633=)
c.4860A>T (p.Thr1620=)
c.4806A>T (p.Thr1602=)
c.4710A>T (p.Thr1570=)
c.4680A>T (p.Thr1560=)
c.4605A>T (p.Thr1535=)
c.4503A>T (p.Thr1501=)
c.4134A>T (p.Thr1378=)
 ClinVar dbSNP gnomAD v4
5g.112840578dupCA2582341404APCc.5038dup (p.Ile1680AsnfsTer7)
c.*4990dup (n.*4990dup)
c.4930dup (p.Ile1644AsnfsTer7)
c.4984dup (p.Ile1662AsnfsTer7)
c.*4306dup (n.*4306dup)
c.230+11606dup
c.5014dup (p.Ile1672AsnfsTer7)
c.4909dup (p.Ile1637AsnfsTer7)
c.4900dup (p.Ile1634AsnfsTer7)
c.4861dup (p.Ile1621AsnfsTer7)
c.4807dup (p.Ile1603AsnfsTer7)
c.4711dup (p.Ile1571AsnfsTer7)
c.4681dup (p.Ile1561AsnfsTer7)
c.4606dup (p.Ile1536AsnfsTer7)
c.4504dup (p.Ile1502AsnfsTer7)
c.4135dup (p.Ile1379AsnfsTer7)
 ClinVar
5g.112840578A=CA1573472887APCc.5038A= (p.Ile1680=)
c.*4990A= (n.*4990A=)
c.4930A= (p.Ile1644=)
c.4984A= (p.Ile1662=)
c.*4306A= (n.*4306A=)
c.230+11606A=
c.5014A= (p.Ile1672=)
c.4909A= (p.Ile1637=)
c.4900A= (p.Ile1634=)
c.4861A= (p.Ile1621=)
c.4807A= (p.Ile1603=)
c.4711A= (p.Ile1571=)
c.4681A= (p.Ile1561=)
c.4606A= (p.Ile1536=)
c.4504A= (p.Ile1502=)
c.4135A= (p.Ile1379=)
5g.112840578A>CCA16032239APCc.5038A>C (p.Ile1680Leu)
c.*4990A>C (n.*4990A>C)
c.4930A>C (p.Ile1644Leu)
c.4984A>C (p.Ile1662Leu)
c.*4306A>C (n.*4306A>C)
c.230+11606A>C
c.5014A>C (p.Ile1672Leu)
c.4909A>C (p.Ile1637Leu)
c.4900A>C (p.Ile1634Leu)
c.4861A>C (p.Ile1621Leu)
c.4807A>C (p.Ile1603Leu)
c.4711A>C (p.Ile1571Leu)
c.4681A>C (p.Ile1561Leu)
c.4606A>C (p.Ile1536Leu)
c.4504A>C (p.Ile1502Leu)
c.4135A>C (p.Ile1379Leu)
 dbSNP
5g.112840578A>GCA16032240APCc.5038A>G (p.Ile1680Val)
c.*4990A>G (n.*4990A>G)
c.4930A>G (p.Ile1644Val)
c.4984A>G (p.Ile1662Val)
c.*4306A>G (n.*4306A>G)
c.230+11606A>G
c.5014A>G (p.Ile1672Val)
c.4909A>G (p.Ile1637Val)
c.4900A>G (p.Ile1634Val)
c.4861A>G (p.Ile1621Val)
c.4807A>G (p.Ile1603Val)
c.4711A>G (p.Ile1571Val)
c.4681A>G (p.Ile1561Val)
c.4606A>G (p.Ile1536Val)
c.4504A>G (p.Ile1502Val)
c.4135A>G (p.Ile1379Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840578A>TCA16032241APCc.5038A>T (p.Ile1680Phe)
c.*4990A>T (n.*4990A>T)
c.4930A>T (p.Ile1644Phe)
c.4984A>T (p.Ile1662Phe)
c.*4306A>T (n.*4306A>T)
c.230+11606A>T
c.5014A>T (p.Ile1672Phe)
c.4909A>T (p.Ile1637Phe)
c.4900A>T (p.Ile1634Phe)
c.4861A>T (p.Ile1621Phe)
c.4807A>T (p.Ile1603Phe)
c.4711A>T (p.Ile1571Phe)
c.4681A>T (p.Ile1561Phe)
c.4606A>T (p.Ile1536Phe)
c.4504A>T (p.Ile1502Phe)
c.4135A>T (p.Ile1379Phe)
 dbSNP
5g.112840579T>ACA16032242APCc.5039T>A (p.Ile1680Asn)
c.*4991T>A (n.*4991T>A)
c.4931T>A (p.Ile1644Asn)
c.4985T>A (p.Ile1662Asn)
c.*4307T>A (n.*4307T>A)
c.230+11607T>A
c.5015T>A (p.Ile1672Asn)
c.4910T>A (p.Ile1637Asn)
c.4901T>A (p.Ile1634Asn)
c.4862T>A (p.Ile1621Asn)
c.4808T>A (p.Ile1603Asn)
c.4712T>A (p.Ile1571Asn)
c.4682T>A (p.Ile1561Asn)
c.4607T>A (p.Ile1536Asn)
c.4505T>A (p.Ile1502Asn)
c.4136T>A (p.Ile1379Asn)
 dbSNP
5g.112840579T>CCA16032243APCc.5039T>C (p.Ile1680Thr)
c.*4991T>C (n.*4991T>C)
c.4931T>C (p.Ile1644Thr)
c.4985T>C (p.Ile1662Thr)
c.*4307T>C (n.*4307T>C)
c.230+11607T>C
c.5015T>C (p.Ile1672Thr)
c.4910T>C (p.Ile1637Thr)
c.4901T>C (p.Ile1634Thr)
c.4862T>C (p.Ile1621Thr)
c.4808T>C (p.Ile1603Thr)
c.4712T>C (p.Ile1571Thr)
c.4682T>C (p.Ile1561Thr)
c.4607T>C (p.Ile1536Thr)
c.4505T>C (p.Ile1502Thr)
c.4136T>C (p.Ile1379Thr)
 dbSNP
5g.112840579T>GCA16032244APCc.5039T>G (p.Ile1680Ser)
c.*4991T>G (n.*4991T>G)
c.4931T>G (p.Ile1644Ser)
c.4985T>G (p.Ile1662Ser)
c.*4307T>G (n.*4307T>G)
c.230+11607T>G
c.5015T>G (p.Ile1672Ser)
c.4910T>G (p.Ile1637Ser)
c.4901T>G (p.Ile1634Ser)
c.4862T>G (p.Ile1621Ser)
c.4808T>G (p.Ile1603Ser)
c.4712T>G (p.Ile1571Ser)
c.4682T>G (p.Ile1561Ser)
c.4607T>G (p.Ile1536Ser)
c.4505T>G (p.Ile1502Ser)
c.4136T>G (p.Ile1379Ser)
5g.112840580C>ACA446208742APCc.5040C>A (p.Ile1680=)
c.*4992C>A (n.*4992C>A)
c.4932C>A (p.Ile1644=)
c.4986C>A (p.Ile1662=)
c.*4308C>A (n.*4308C>A)
c.230+11608C>A
c.5016C>A (p.Ile1672=)
c.4911C>A (p.Ile1637=)
c.4902C>A (p.Ile1634=)
c.4863C>A (p.Ile1621=)
c.4809C>A (p.Ile1603=)
c.4713C>A (p.Ile1571=)
c.4683C>A (p.Ile1561=)
c.4608C>A (p.Ile1536=)
c.4506C>A (p.Ile1502=)
c.4137C>A (p.Ile1379=)
 ClinVar dbSNP
5g.112840580C=CA1573472904APCc.5040C= (p.Ile1680=)
c.*4992C= (n.*4992C=)
c.4932C= (p.Ile1644=)
c.4986C= (p.Ile1662=)
c.*4308C= (n.*4308C=)
c.230+11608C=
c.5016C= (p.Ile1672=)
c.4911C= (p.Ile1637=)
c.4902C= (p.Ile1634=)
c.4863C= (p.Ile1621=)
c.4809C= (p.Ile1603=)
c.4713C= (p.Ile1571=)
c.4683C= (p.Ile1561=)
c.4608C= (p.Ile1536=)
c.4506C= (p.Ile1502=)
c.4137C= (p.Ile1379=)
5g.112840580C>GCA16032245APCc.5040C>G (p.Ile1680Met)
c.*4992C>G (n.*4992C>G)
c.4932C>G (p.Ile1644Met)
c.4986C>G (p.Ile1662Met)
c.*4308C>G (n.*4308C>G)
c.230+11608C>G
c.5016C>G (p.Ile1672Met)
c.4911C>G (p.Ile1637Met)
c.4902C>G (p.Ile1634Met)
c.4863C>G (p.Ile1621Met)
c.4809C>G (p.Ile1603Met)
c.4713C>G (p.Ile1571Met)
c.4683C>G (p.Ile1561Met)
c.4608C>G (p.Ile1536Met)
c.4506C>G (p.Ile1502Met)
c.4137C>G (p.Ile1379Met)
 ClinVar dbSNP
5g.112840580C>TCA10578388APCc.5040C>T (p.Ile1680=)
c.*4992C>T (n.*4992C>T)
c.4932C>T (p.Ile1644=)
c.4986C>T (p.Ile1662=)
c.*4308C>T (n.*4308C>T)
c.230+11608C>T
c.5016C>T (p.Ile1672=)
c.4911C>T (p.Ile1637=)
c.4902C>T (p.Ile1634=)
c.4863C>T (p.Ile1621=)
c.4809C>T (p.Ile1603=)
c.4713C>T (p.Ile1571=)
c.4683C>T (p.Ile1561=)
c.4608C>T (p.Ile1536=)
c.4506C>T (p.Ile1502=)
c.4137C>T (p.Ile1379=)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112840581G>ACA040323APCc.5041G>A (p.Glu1681Lys)
c.*4993G>A (n.*4993G>A)
c.4933G>A (p.Glu1645Lys)
c.4987G>A (p.Glu1663Lys)
c.*4309G>A (n.*4309G>A)
c.230+11609G>A
c.5017G>A (p.Glu1673Lys)
c.4912G>A (p.Glu1638Lys)
c.4903G>A (p.Glu1635Lys)
c.4864G>A (p.Glu1622Lys)
c.4810G>A (p.Glu1604Lys)
c.4714G>A (p.Glu1572Lys)
c.4684G>A (p.Glu1562Lys)
c.4609G>A (p.Glu1537Lys)
c.4507G>A (p.Glu1503Lys)
c.4138G>A (p.Glu1380Lys)
 ClinVar dbSNP ExAC gnomAD v4
5g.112840581G>CCA16032246APCc.5041G>C (p.Glu1681Gln)
c.*4993G>C (n.*4993G>C)
c.4933G>C (p.Glu1645Gln)
c.4987G>C (p.Glu1663Gln)
c.*4309G>C (n.*4309G>C)
c.230+11609G>C
c.5017G>C (p.Glu1673Gln)
c.4912G>C (p.Glu1638Gln)
c.4903G>C (p.Glu1635Gln)
c.4864G>C (p.Glu1622Gln)
c.4810G>C (p.Glu1604Gln)
c.4714G>C (p.Glu1572Gln)
c.4684G>C (p.Glu1562Gln)
c.4609G>C (p.Glu1537Gln)
c.4507G>C (p.Glu1503Gln)
c.4138G>C (p.Glu1380Gln)
 dbSNP
5g.112840581G=CA1573472913APCc.5041G= (p.Glu1681=)
c.*4993G= (n.*4993G=)
c.4933G= (p.Glu1645=)
c.4987G= (p.Glu1663=)
c.*4309G= (n.*4309G=)
c.230+11609G=
c.5017G= (p.Glu1673=)
c.4912G= (p.Glu1638=)
c.4903G= (p.Glu1635=)
c.4864G= (p.Glu1622=)
c.4810G= (p.Glu1604=)
c.4714G= (p.Glu1572=)
c.4684G= (p.Glu1562=)
c.4609G= (p.Glu1537=)
c.4507G= (p.Glu1503=)
c.4138G= (p.Glu1380=)
5g.112840581G>TCA10582321APCc.5041G>T (p.Glu1681Ter)
c.*4993G>T (n.*4993G>T)
c.4933G>T (p.Glu1645Ter)
c.4987G>T (p.Glu1663Ter)
c.*4309G>T (n.*4309G>T)
c.230+11609G>T
c.5017G>T (p.Glu1673Ter)
c.4912G>T (p.Glu1638Ter)
c.4903G>T (p.Glu1635Ter)
c.4864G>T (p.Glu1622Ter)
c.4810G>T (p.Glu1604Ter)
c.4714G>T (p.Glu1572Ter)
c.4684G>T (p.Glu1562Ter)
c.4609G>T (p.Glu1537Ter)
c.4507G>T (p.Glu1503Ter)
c.4138G>T (p.Glu1380Ter)
 ClinVar dbSNP COSMIC

Number of alleles fetched