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_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.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.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
5g.112840582A>CCA16032247APCc.5042A>C (p.Glu1681Ala)
c.*4994A>C (n.*4994A>C)
c.4934A>C (p.Glu1645Ala)
c.4988A>C (p.Glu1663Ala)
c.*4310A>C (n.*4310A>C)
c.230+11610A>C
c.5018A>C (p.Glu1673Ala)
c.4913A>C (p.Glu1638Ala)
c.4904A>C (p.Glu1635Ala)
c.4865A>C (p.Glu1622Ala)
c.4811A>C (p.Glu1604Ala)
c.4715A>C (p.Glu1572Ala)
c.4685A>C (p.Glu1562Ala)
c.4610A>C (p.Glu1537Ala)
c.4508A>C (p.Glu1503Ala)
c.4139A>C (p.Glu1380Ala)
 dbSNP
5g.112840582A>GCA16032248APCc.5042A>G (p.Glu1681Gly)
c.*4994A>G (n.*4994A>G)
c.4934A>G (p.Glu1645Gly)
c.4988A>G (p.Glu1663Gly)
c.*4310A>G (n.*4310A>G)
c.230+11610A>G
c.5018A>G (p.Glu1673Gly)
c.4913A>G (p.Glu1638Gly)
c.4904A>G (p.Glu1635Gly)
c.4865A>G (p.Glu1622Gly)
c.4811A>G (p.Glu1604Gly)
c.4715A>G (p.Glu1572Gly)
c.4685A>G (p.Glu1562Gly)
c.4610A>G (p.Glu1537Gly)
c.4508A>G (p.Glu1503Gly)
c.4139A>G (p.Glu1380Gly)
 dbSNP
5g.112840582A>TCA16032249APCc.5042A>T (p.Glu1681Val)
c.*4994A>T (n.*4994A>T)
c.4934A>T (p.Glu1645Val)
c.4988A>T (p.Glu1663Val)
c.*4310A>T (n.*4310A>T)
c.230+11610A>T
c.5018A>T (p.Glu1673Val)
c.4913A>T (p.Glu1638Val)
c.4904A>T (p.Glu1635Val)
c.4865A>T (p.Glu1622Val)
c.4811A>T (p.Glu1604Val)
c.4715A>T (p.Glu1572Val)
c.4685A>T (p.Glu1562Val)
c.4610A>T (p.Glu1537Val)
c.4508A>T (p.Glu1503Val)
c.4139A>T (p.Glu1380Val)
 dbSNP
5g.112840583A=CA1573472932APCc.5043A= (p.Glu1681=)
c.*4995A= (n.*4995A=)
c.4935A= (p.Glu1645=)
c.4989A= (p.Glu1663=)
c.*4311A= (n.*4311A=)
c.230+11611A=
c.5019A= (p.Glu1673=)
c.4914A= (p.Glu1638=)
c.4905A= (p.Glu1635=)
c.4866A= (p.Glu1622=)
c.4812A= (p.Glu1604=)
c.4716A= (p.Glu1572=)
c.4686A= (p.Glu1562=)
c.4611A= (p.Glu1537=)
c.4509A= (p.Glu1503=)
c.4140A= (p.Glu1380=)
5g.112840583A>CCA16032250APCc.5043A>C (p.Glu1681Asp)
c.*4995A>C (n.*4995A>C)
c.4935A>C (p.Glu1645Asp)
c.4989A>C (p.Glu1663Asp)
c.*4311A>C (n.*4311A>C)
c.230+11611A>C
c.5019A>C (p.Glu1673Asp)
c.4914A>C (p.Glu1638Asp)
c.4905A>C (p.Glu1635Asp)
c.4866A>C (p.Glu1622Asp)
c.4812A>C (p.Glu1604Asp)
c.4716A>C (p.Glu1572Asp)
c.4686A>C (p.Glu1562Asp)
c.4611A>C (p.Glu1537Asp)
c.4509A>C (p.Glu1503Asp)
c.4140A>C (p.Glu1380Asp)
 dbSNP
5g.112840583A>GCA338027APCc.5043A>G (p.Glu1681=)
c.*4995A>G (n.*4995A>G)
c.4935A>G (p.Glu1645=)
c.4989A>G (p.Glu1663=)
c.*4311A>G (n.*4311A>G)
c.230+11611A>G
c.5019A>G (p.Glu1673=)
c.4914A>G (p.Glu1638=)
c.4905A>G (p.Glu1635=)
c.4866A>G (p.Glu1622=)
c.4812A>G (p.Glu1604=)
c.4716A>G (p.Glu1572=)
c.4686A>G (p.Glu1562=)
c.4611A>G (p.Glu1537=)
c.4509A>G (p.Glu1503=)
c.4140A>G (p.Glu1380=)
 ClinVar dbSNP gnomAD v4
5g.112840583A>TCA16032251APCc.5043A>T (p.Glu1681Asp)
c.*4995A>T (n.*4995A>T)
c.4935A>T (p.Glu1645Asp)
c.4989A>T (p.Glu1663Asp)
c.*4311A>T (n.*4311A>T)
c.230+11611A>T
c.5019A>T (p.Glu1673Asp)
c.4914A>T (p.Glu1638Asp)
c.4905A>T (p.Glu1635Asp)
c.4866A>T (p.Glu1622Asp)
c.4812A>T (p.Glu1604Asp)
c.4716A>T (p.Glu1572Asp)
c.4686A>T (p.Glu1562Asp)
c.4611A>T (p.Glu1537Asp)
c.4509A>T (p.Glu1503Asp)
c.4140A>T (p.Glu1380Asp)
 ClinVar dbSNP
5g.112840584T>ACA16032252APCc.5044T>A (p.Ser1682Thr)
c.*4996T>A (n.*4996T>A)
c.4936T>A (p.Ser1646Thr)
c.4990T>A (p.Ser1664Thr)
c.*4312T>A (n.*4312T>A)
c.230+11612T>A
c.5020T>A (p.Ser1674Thr)
c.4915T>A (p.Ser1639Thr)
c.4906T>A (p.Ser1636Thr)
c.4867T>A (p.Ser1623Thr)
c.4813T>A (p.Ser1605Thr)
c.4717T>A (p.Ser1573Thr)
c.4687T>A (p.Ser1563Thr)
c.4612T>A (p.Ser1538Thr)
c.4510T>A (p.Ser1504Thr)
c.4141T>A (p.Ser1381Thr)
5g.112840584T>CCA16032253APCc.5044T>C (p.Ser1682Pro)
c.*4996T>C (n.*4996T>C)
c.4936T>C (p.Ser1646Pro)
c.4990T>C (p.Ser1664Pro)
c.*4312T>C (n.*4312T>C)
c.230+11612T>C
c.5020T>C (p.Ser1674Pro)
c.4915T>C (p.Ser1639Pro)
c.4906T>C (p.Ser1636Pro)
c.4867T>C (p.Ser1623Pro)
c.4813T>C (p.Ser1605Pro)
c.4717T>C (p.Ser1573Pro)
c.4687T>C (p.Ser1563Pro)
c.4612T>C (p.Ser1538Pro)
c.4510T>C (p.Ser1504Pro)
c.4141T>C (p.Ser1381Pro)
5g.112840584T>GCA16032254APCc.5044T>G (p.Ser1682Ala)
c.*4996T>G (n.*4996T>G)
c.4936T>G (p.Ser1646Ala)
c.4990T>G (p.Ser1664Ala)
c.*4312T>G (n.*4312T>G)
c.230+11612T>G
c.5020T>G (p.Ser1674Ala)
c.4915T>G (p.Ser1639Ala)
c.4906T>G (p.Ser1636Ala)
c.4867T>G (p.Ser1623Ala)
c.4813T>G (p.Ser1605Ala)
c.4717T>G (p.Ser1573Ala)
c.4687T>G (p.Ser1563Ala)
c.4612T>G (p.Ser1538Ala)
c.4510T>G (p.Ser1504Ala)
c.4141T>G (p.Ser1381Ala)
5g.112840585C>ACA16032255APCc.5045C>A (p.Ser1682Tyr)
c.*4997C>A (n.*4997C>A)
c.4937C>A (p.Ser1646Tyr)
c.4991C>A (p.Ser1664Tyr)
c.*4313C>A (n.*4313C>A)
c.230+11613C>A
c.5021C>A (p.Ser1674Tyr)
c.4916C>A (p.Ser1639Tyr)
c.4907C>A (p.Ser1636Tyr)
c.4868C>A (p.Ser1623Tyr)
c.4814C>A (p.Ser1605Tyr)
c.4718C>A (p.Ser1573Tyr)
c.4688C>A (p.Ser1563Tyr)
c.4613C>A (p.Ser1538Tyr)
c.4511C>A (p.Ser1504Tyr)
c.4142C>A (p.Ser1381Tyr)
 dbSNP COSMIC
5g.112840585C>GCA16032256APCc.5045C>G (p.Ser1682Cys)
c.*4997C>G (n.*4997C>G)
c.4937C>G (p.Ser1646Cys)
c.4991C>G (p.Ser1664Cys)
c.*4313C>G (n.*4313C>G)
c.230+11613C>G
c.5021C>G (p.Ser1674Cys)
c.4916C>G (p.Ser1639Cys)
c.4907C>G (p.Ser1636Cys)
c.4868C>G (p.Ser1623Cys)
c.4814C>G (p.Ser1605Cys)
c.4718C>G (p.Ser1573Cys)
c.4688C>G (p.Ser1563Cys)
c.4613C>G (p.Ser1538Cys)
c.4511C>G (p.Ser1504Cys)
c.4142C>G (p.Ser1381Cys)
 dbSNP
5g.112840585C>TCA16032257APCc.5045C>T (p.Ser1682Phe)
c.*4997C>T (n.*4997C>T)
c.4937C>T (p.Ser1646Phe)
c.4991C>T (p.Ser1664Phe)
c.*4313C>T (n.*4313C>T)
c.230+11613C>T
c.5021C>T (p.Ser1674Phe)
c.4916C>T (p.Ser1639Phe)
c.4907C>T (p.Ser1636Phe)
c.4868C>T (p.Ser1623Phe)
c.4814C>T (p.Ser1605Phe)
c.4718C>T (p.Ser1573Phe)
c.4688C>T (p.Ser1563Phe)
c.4613C>T (p.Ser1538Phe)
c.4511C>T (p.Ser1504Phe)
c.4142C>T (p.Ser1381Phe)
 dbSNP COSMIC
5g.112840586C>ACA446208743APCc.5046C>A (p.Ser1682=)
c.*4998C>A (n.*4998C>A)
c.4938C>A (p.Ser1646=)
c.4992C>A (p.Ser1664=)
c.*4314C>A (n.*4314C>A)
c.230+11614C>A
c.5022C>A (p.Ser1674=)
c.4917C>A (p.Ser1639=)
c.4908C>A (p.Ser1636=)
c.4869C>A (p.Ser1623=)
c.4815C>A (p.Ser1605=)
c.4719C>A (p.Ser1573=)
c.4689C>A (p.Ser1563=)
c.4614C>A (p.Ser1538=)
c.4512C>A (p.Ser1504=)
c.4143C>A (p.Ser1381=)
 dbSNP
5g.112840586C=CA1573472939APCc.5046C= (p.Ser1682=)
c.*4998C= (n.*4998C=)
c.4938C= (p.Ser1646=)
c.4992C= (p.Ser1664=)
c.*4314C= (n.*4314C=)
c.230+11614C=
c.5022C= (p.Ser1674=)
c.4917C= (p.Ser1639=)
c.4908C= (p.Ser1636=)
c.4869C= (p.Ser1623=)
c.4815C= (p.Ser1605=)
c.4719C= (p.Ser1573=)
c.4689C= (p.Ser1563=)
c.4614C= (p.Ser1538=)
c.4512C= (p.Ser1504=)
c.4143C= (p.Ser1381=)
5g.112840586C>GCA446208744APCc.5046C>G (p.Ser1682=)
c.*4998C>G (n.*4998C>G)
c.4938C>G (p.Ser1646=)
c.4992C>G (p.Ser1664=)
c.*4314C>G (n.*4314C>G)
c.230+11614C>G
c.5022C>G (p.Ser1674=)
c.4917C>G (p.Ser1639=)
c.4908C>G (p.Ser1636=)
c.4869C>G (p.Ser1623=)
c.4815C>G (p.Ser1605=)
c.4719C>G (p.Ser1573=)
c.4689C>G (p.Ser1563=)
c.4614C>G (p.Ser1538=)
c.4512C>G (p.Ser1504=)
c.4143C>G (p.Ser1381=)
 dbSNP
5g.112840586C>TCA125167793APCc.5046C>T (p.Ser1682=)
c.*4998C>T (n.*4998C>T)
c.4938C>T (p.Ser1646=)
c.4992C>T (p.Ser1664=)
c.*4314C>T (n.*4314C>T)
c.230+11614C>T
c.5022C>T (p.Ser1674=)
c.4917C>T (p.Ser1639=)
c.4908C>T (p.Ser1636=)
c.4869C>T (p.Ser1623=)
c.4815C>T (p.Ser1605=)
c.4719C>T (p.Ser1573=)
c.4689C>T (p.Ser1563=)
c.4614C>T (p.Ser1538=)
c.4512C>T (p.Ser1504=)
c.4143C>T (p.Ser1381=)
 ClinVar dbSNP COSMIC
5g.112840587C>ACA16032258APCc.5047C>A (p.Pro1683Thr)
c.*4999C>A (n.*4999C>A)
c.4939C>A (p.Pro1647Thr)
c.4993C>A (p.Pro1665Thr)
c.*4315C>A (n.*4315C>A)
c.230+11615C>A
c.5023C>A (p.Pro1675Thr)
c.4918C>A (p.Pro1640Thr)
c.4909C>A (p.Pro1637Thr)
c.4870C>A (p.Pro1624Thr)
c.4816C>A (p.Pro1606Thr)
c.4720C>A (p.Pro1574Thr)
c.4690C>A (p.Pro1564Thr)
c.4615C>A (p.Pro1539Thr)
c.4513C>A (p.Pro1505Thr)
c.4144C>A (p.Pro1382Thr)
 ClinVar dbSNP COSMIC
5g.112840587C=CA1573472945APCc.5047C= (p.Pro1683=)
c.*4999C= (n.*4999C=)
c.4939C= (p.Pro1647=)
c.4993C= (p.Pro1665=)
c.*4315C= (n.*4315C=)
c.230+11615C=
c.5023C= (p.Pro1675=)
c.4918C= (p.Pro1640=)
c.4909C= (p.Pro1637=)
c.4870C= (p.Pro1624=)
c.4816C= (p.Pro1606=)
c.4720C= (p.Pro1574=)
c.4690C= (p.Pro1564=)
c.4615C= (p.Pro1539=)
c.4513C= (p.Pro1505=)
c.4144C= (p.Pro1382=)
5g.112840587C>GCA16032259APCc.5047C>G (p.Pro1683Ala)
c.*4999C>G (n.*4999C>G)
c.4939C>G (p.Pro1647Ala)
c.4993C>G (p.Pro1665Ala)
c.*4315C>G (n.*4315C>G)
c.230+11615C>G
c.5023C>G (p.Pro1675Ala)
c.4918C>G (p.Pro1640Ala)
c.4909C>G (p.Pro1637Ala)
c.4870C>G (p.Pro1624Ala)
c.4816C>G (p.Pro1606Ala)
c.4720C>G (p.Pro1574Ala)
c.4690C>G (p.Pro1564Ala)
c.4615C>G (p.Pro1539Ala)
c.4513C>G (p.Pro1505Ala)
c.4144C>G (p.Pro1382Ala)
 ClinVar dbSNP gnomAD v4
5g.112840587C>TCA16032260APCc.5047C>T (p.Pro1683Ser)
c.*4999C>T (n.*4999C>T)
c.4939C>T (p.Pro1647Ser)
c.4993C>T (p.Pro1665Ser)
c.*4315C>T (n.*4315C>T)
c.230+11615C>T
c.5023C>T (p.Pro1675Ser)
c.4918C>T (p.Pro1640Ser)
c.4909C>T (p.Pro1637Ser)
c.4870C>T (p.Pro1624Ser)
c.4816C>T (p.Pro1606Ser)
c.4720C>T (p.Pro1574Ser)
c.4690C>T (p.Pro1564Ser)
c.4615C>T (p.Pro1539Ser)
c.4513C>T (p.Pro1505Ser)
c.4144C>T (p.Pro1382Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112840588C>ACA16032261APCc.5048C>A (p.Pro1683His)
c.*5000C>A (n.*5000C>A)
c.4940C>A (p.Pro1647His)
c.4994C>A (p.Pro1665His)
c.*4316C>A (n.*4316C>A)
c.230+11616C>A
c.5024C>A (p.Pro1675His)
c.4919C>A (p.Pro1640His)
c.4910C>A (p.Pro1637His)
c.4871C>A (p.Pro1624His)
c.4817C>A (p.Pro1606His)
c.4721C>A (p.Pro1574His)
c.4691C>A (p.Pro1564His)
c.4616C>A (p.Pro1539His)
c.4514C>A (p.Pro1505His)
c.4145C>A (p.Pro1382His)
 ClinVar dbSNP
5g.112840588C=CA1573472952APCc.5048C= (p.Pro1683=)
c.*5000C= (n.*5000C=)
c.4940C= (p.Pro1647=)
c.4994C= (p.Pro1665=)
c.*4316C= (n.*4316C=)
c.230+11616C=
c.5024C= (p.Pro1675=)
c.4919C= (p.Pro1640=)
c.4910C= (p.Pro1637=)
c.4871C= (p.Pro1624=)
c.4817C= (p.Pro1606=)
c.4721C= (p.Pro1574=)
c.4691C= (p.Pro1564=)
c.4616C= (p.Pro1539=)
c.4514C= (p.Pro1505=)
c.4145C= (p.Pro1382=)
5g.112840588C>GCA16032262APCc.5048C>G (p.Pro1683Arg)
c.*5000C>G (n.*5000C>G)
c.4940C>G (p.Pro1647Arg)
c.4994C>G (p.Pro1665Arg)
c.*4316C>G (n.*4316C>G)
c.230+11616C>G
c.5024C>G (p.Pro1675Arg)
c.4919C>G (p.Pro1640Arg)
c.4910C>G (p.Pro1637Arg)
c.4871C>G (p.Pro1624Arg)
c.4817C>G (p.Pro1606Arg)
c.4721C>G (p.Pro1574Arg)
c.4691C>G (p.Pro1564Arg)
c.4616C>G (p.Pro1539Arg)
c.4514C>G (p.Pro1505Arg)
c.4145C>G (p.Pro1382Arg)
 dbSNP
5g.112840588C>TCA16032263APCc.5048C>T (p.Pro1683Leu)
c.*5000C>T (n.*5000C>T)
c.4940C>T (p.Pro1647Leu)
c.4994C>T (p.Pro1665Leu)
c.*4316C>T (n.*4316C>T)
c.230+11616C>T
c.5024C>T (p.Pro1675Leu)
c.4919C>T (p.Pro1640Leu)
c.4910C>T (p.Pro1637Leu)
c.4871C>T (p.Pro1624Leu)
c.4817C>T (p.Pro1606Leu)
c.4721C>T (p.Pro1574Leu)
c.4691C>T (p.Pro1564Leu)
c.4616C>T (p.Pro1539Leu)
c.4514C>T (p.Pro1505Leu)
c.4145C>T (p.Pro1382Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840589T>ACA446208745APCc.5049T>A (p.Pro1683=)
c.*5001T>A (n.*5001T>A)
c.4941T>A (p.Pro1647=)
c.4995T>A (p.Pro1665=)
c.*4317T>A (n.*4317T>A)
c.230+11617T>A
c.5025T>A (p.Pro1675=)
c.4920T>A (p.Pro1640=)
c.4911T>A (p.Pro1637=)
c.4872T>A (p.Pro1624=)
c.4818T>A (p.Pro1606=)
c.4722T>A (p.Pro1574=)
c.4692T>A (p.Pro1564=)
c.4617T>A (p.Pro1539=)
c.4515T>A (p.Pro1505=)
c.4146T>A (p.Pro1382=)
 ClinVar
5g.112840589T>CCA446208746APCc.5049T>C (p.Pro1683=)
c.*5001T>C (n.*5001T>C)
c.4941T>C (p.Pro1647=)
c.4995T>C (p.Pro1665=)
c.*4317T>C (n.*4317T>C)
c.230+11617T>C
c.5025T>C (p.Pro1675=)
c.4920T>C (p.Pro1640=)
c.4911T>C (p.Pro1637=)
c.4872T>C (p.Pro1624=)
c.4818T>C (p.Pro1606=)
c.4722T>C (p.Pro1574=)
c.4692T>C (p.Pro1564=)
c.4617T>C (p.Pro1539=)
c.4515T>C (p.Pro1505=)
c.4146T>C (p.Pro1382=)
 ClinVar
5g.112840589T>GCA446208747APCc.5049T>G (p.Pro1683=)
c.*5001T>G (n.*5001T>G)
c.4941T>G (p.Pro1647=)
c.4995T>G (p.Pro1665=)
c.*4317T>G (n.*4317T>G)
c.230+11617T>G
c.5025T>G (p.Pro1675=)
c.4920T>G (p.Pro1640=)
c.4911T>G (p.Pro1637=)
c.4872T>G (p.Pro1624=)
c.4818T>G (p.Pro1606=)
c.4722T>G (p.Pro1574=)
c.4692T>G (p.Pro1564=)
c.4617T>G (p.Pro1539=)
c.4515T>G (p.Pro1505=)
c.4146T>G (p.Pro1382=)
 ClinVar gnomAD v4
5g.112840590C>ACA16032264APCc.5050C>A (p.Pro1684Thr)
c.*5002C>A (n.*5002C>A)
c.4942C>A (p.Pro1648Thr)
c.4996C>A (p.Pro1666Thr)
c.*4318C>A (n.*4318C>A)
c.230+11618C>A
c.5026C>A (p.Pro1676Thr)
c.4921C>A (p.Pro1641Thr)
c.4912C>A (p.Pro1638Thr)
c.4873C>A (p.Pro1625Thr)
c.4819C>A (p.Pro1607Thr)
c.4723C>A (p.Pro1575Thr)
c.4693C>A (p.Pro1565Thr)
c.4618C>A (p.Pro1540Thr)
c.4516C>A (p.Pro1506Thr)
c.4147C>A (p.Pro1383Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.112840590C=CA1573472960APCc.5050C= (p.Pro1684=)
c.*5002C= (n.*5002C=)
c.4942C= (p.Pro1648=)
c.4996C= (p.Pro1666=)
c.*4318C= (n.*4318C=)
c.230+11618C=
c.5026C= (p.Pro1676=)
c.4921C= (p.Pro1641=)
c.4912C= (p.Pro1638=)
c.4873C= (p.Pro1625=)
c.4819C= (p.Pro1607=)
c.4723C= (p.Pro1575=)
c.4693C= (p.Pro1565=)
c.4618C= (p.Pro1540=)
c.4516C= (p.Pro1506=)
c.4147C= (p.Pro1383=)
5g.112840590C>GCA16032265APCc.5050C>G (p.Pro1684Ala)
c.*5002C>G (n.*5002C>G)
c.4942C>G (p.Pro1648Ala)
c.4996C>G (p.Pro1666Ala)
c.*4318C>G (n.*4318C>G)
c.230+11618C>G
c.5026C>G (p.Pro1676Ala)
c.4921C>G (p.Pro1641Ala)
c.4912C>G (p.Pro1638Ala)
c.4873C>G (p.Pro1625Ala)
c.4819C>G (p.Pro1607Ala)
c.4723C>G (p.Pro1575Ala)
c.4693C>G (p.Pro1565Ala)
c.4618C>G (p.Pro1540Ala)
c.4516C>G (p.Pro1506Ala)
c.4147C>G (p.Pro1383Ala)
5g.112840590C>TCA16032266APCc.5050C>T (p.Pro1684Ser)
c.*5002C>T (n.*5002C>T)
c.4942C>T (p.Pro1648Ser)
c.4996C>T (p.Pro1666Ser)
c.*4318C>T (n.*4318C>T)
c.230+11618C>T
c.5026C>T (p.Pro1676Ser)
c.4921C>T (p.Pro1641Ser)
c.4912C>T (p.Pro1638Ser)
c.4873C>T (p.Pro1625Ser)
c.4819C>T (p.Pro1607Ser)
c.4723C>T (p.Pro1575Ser)
c.4693C>T (p.Pro1565Ser)
c.4618C>T (p.Pro1540Ser)
c.4516C>T (p.Pro1506Ser)
c.4147C>T (p.Pro1383Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.112840591C>ACA16032267APCc.5051C>A (p.Pro1684Gln)
c.*5003C>A (n.*5003C>A)
c.4943C>A (p.Pro1648Gln)
c.4997C>A (p.Pro1666Gln)
c.*4319C>A (n.*4319C>A)
c.230+11619C>A
c.5027C>A (p.Pro1676Gln)
c.4922C>A (p.Pro1641Gln)
c.4913C>A (p.Pro1638Gln)
c.4874C>A (p.Pro1625Gln)
c.4820C>A (p.Pro1607Gln)
c.4724C>A (p.Pro1575Gln)
c.4694C>A (p.Pro1565Gln)
c.4619C>A (p.Pro1540Gln)
c.4517C>A (p.Pro1506Gln)
c.4148C>A (p.Pro1383Gln)
 dbSNP
5g.112840591C=CA1573472966APCc.5051C= (p.Pro1684=)
c.*5003C= (n.*5003C=)
c.4943C= (p.Pro1648=)
c.4997C= (p.Pro1666=)
c.*4319C= (n.*4319C=)
c.230+11619C=
c.5027C= (p.Pro1676=)
c.4922C= (p.Pro1641=)
c.4913C= (p.Pro1638=)
c.4874C= (p.Pro1625=)
c.4820C= (p.Pro1607=)
c.4724C= (p.Pro1575=)
c.4694C= (p.Pro1565=)
c.4619C= (p.Pro1540=)
c.4517C= (p.Pro1506=)
c.4148C= (p.Pro1383=)
5g.112840591C>GCA040334APCc.5051C>G (p.Pro1684Arg)
c.*5003C>G (n.*5003C>G)
c.4943C>G (p.Pro1648Arg)
c.4997C>G (p.Pro1666Arg)
c.*4319C>G (n.*4319C>G)
c.230+11619C>G
c.5027C>G (p.Pro1676Arg)
c.4922C>G (p.Pro1641Arg)
c.4913C>G (p.Pro1638Arg)
c.4874C>G (p.Pro1625Arg)
c.4820C>G (p.Pro1607Arg)
c.4724C>G (p.Pro1575Arg)
c.4694C>G (p.Pro1565Arg)
c.4619C>G (p.Pro1540Arg)
c.4517C>G (p.Pro1506Arg)
c.4148C>G (p.Pro1383Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840591C>TCA16032268APCc.5051C>T (p.Pro1684Leu)
c.*5003C>T (n.*5003C>T)
c.4943C>T (p.Pro1648Leu)
c.4997C>T (p.Pro1666Leu)
c.*4319C>T (n.*4319C>T)
c.230+11619C>T
c.5027C>T (p.Pro1676Leu)
c.4922C>T (p.Pro1641Leu)
c.4913C>T (p.Pro1638Leu)
c.4874C>T (p.Pro1625Leu)
c.4820C>T (p.Pro1607Leu)
c.4724C>T (p.Pro1575Leu)
c.4694C>T (p.Pro1565Leu)
c.4619C>T (p.Pro1540Leu)
c.4517C>T (p.Pro1506Leu)
c.4148C>T (p.Pro1383Leu)
 dbSNP COSMIC
5g.112840592A>CCA446208748APCc.5052A>C (p.Pro1684=)
c.*5004A>C (n.*5004A>C)
c.4944A>C (p.Pro1648=)
c.4998A>C (p.Pro1666=)
c.*4320A>C (n.*4320A>C)
c.230+11620A>C
c.5028A>C (p.Pro1676=)
c.4923A>C (p.Pro1641=)
c.4914A>C (p.Pro1638=)
c.4875A>C (p.Pro1625=)
c.4821A>C (p.Pro1607=)
c.4725A>C (p.Pro1575=)
c.4695A>C (p.Pro1565=)
c.4620A>C (p.Pro1540=)
c.4518A>C (p.Pro1506=)
c.4149A>C (p.Pro1383=)
5g.112840592A>GCA446208749APCc.5052A>G (p.Pro1684=)
c.*5004A>G (n.*5004A>G)
c.4944A>G (p.Pro1648=)
c.4998A>G (p.Pro1666=)
c.*4320A>G (n.*4320A>G)
c.230+11620A>G
c.5028A>G (p.Pro1676=)
c.4923A>G (p.Pro1641=)
c.4914A>G (p.Pro1638=)
c.4875A>G (p.Pro1625=)
c.4821A>G (p.Pro1607=)
c.4725A>G (p.Pro1575=)
c.4695A>G (p.Pro1565=)
c.4620A>G (p.Pro1540=)
c.4518A>G (p.Pro1506=)
c.4149A>G (p.Pro1383=)
 ClinVar
5g.112840592A>TCA446208750APCc.5052A>T (p.Pro1684=)
c.*5004A>T (n.*5004A>T)
c.4944A>T (p.Pro1648=)
c.4998A>T (p.Pro1666=)
c.*4320A>T (n.*4320A>T)
c.230+11620A>T
c.5028A>T (p.Pro1676=)
c.4923A>T (p.Pro1641=)
c.4914A>T (p.Pro1638=)
c.4875A>T (p.Pro1625=)
c.4821A>T (p.Pro1607=)
c.4725A>T (p.Pro1575=)
c.4695A>T (p.Pro1565=)
c.4620A>T (p.Pro1540=)
c.4518A>T (p.Pro1506=)
c.4149A>T (p.Pro1383=)
 dbSNP
5g.112840593A=CA1573472975APCc.5053A= (p.Asn1685=)
c.*5005A= (n.*5005A=)
c.4945A= (p.Asn1649=)
c.4999A= (p.Asn1667=)
c.*4321A= (n.*4321A=)
c.230+11621A=
c.5029A= (p.Asn1677=)
c.4924A= (p.Asn1642=)
c.4915A= (p.Asn1639=)
c.4876A= (p.Asn1626=)
c.4822A= (p.Asn1608=)
c.4726A= (p.Asn1576=)
c.4696A= (p.Asn1566=)
c.4621A= (p.Asn1541=)
c.4519A= (p.Asn1507=)
c.4150A= (p.Asn1384=)
5g.112840593A>CCA16032269APCc.5053A>C (p.Asn1685His)
c.*5005A>C (n.*5005A>C)
c.4945A>C (p.Asn1649His)
c.4999A>C (p.Asn1667His)
c.*4321A>C (n.*4321A>C)
c.230+11621A>C
c.5029A>C (p.Asn1677His)
c.4924A>C (p.Asn1642His)
c.4915A>C (p.Asn1639His)
c.4876A>C (p.Asn1626His)
c.4822A>C (p.Asn1608His)
c.4726A>C (p.Asn1576His)
c.4696A>C (p.Asn1566His)
c.4621A>C (p.Asn1541His)
c.4519A>C (p.Asn1507His)
c.4150A>C (p.Asn1384His)
 ClinVar dbSNP
5g.112840593A>GCA040350APCc.5053A>G (p.Asn1685Asp)
c.*5005A>G (n.*5005A>G)
c.4945A>G (p.Asn1649Asp)
c.4999A>G (p.Asn1667Asp)
c.*4321A>G (n.*4321A>G)
c.230+11621A>G
c.5029A>G (p.Asn1677Asp)
c.4924A>G (p.Asn1642Asp)
c.4915A>G (p.Asn1639Asp)
c.4876A>G (p.Asn1626Asp)
c.4822A>G (p.Asn1608Asp)
c.4726A>G (p.Asn1576Asp)
c.4696A>G (p.Asn1566Asp)
c.4621A>G (p.Asn1541Asp)
c.4519A>G (p.Asn1507Asp)
c.4150A>G (p.Asn1384Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840593A>TCA16032270APCc.5053A>T (p.Asn1685Tyr)
c.*5005A>T (n.*5005A>T)
c.4945A>T (p.Asn1649Tyr)
c.4999A>T (p.Asn1667Tyr)
c.*4321A>T (n.*4321A>T)
c.230+11621A>T
c.5029A>T (p.Asn1677Tyr)
c.4924A>T (p.Asn1642Tyr)
c.4915A>T (p.Asn1639Tyr)
c.4876A>T (p.Asn1626Tyr)
c.4822A>T (p.Asn1608Tyr)
c.4726A>T (p.Asn1576Tyr)
c.4696A>T (p.Asn1566Tyr)
c.4621A>T (p.Asn1541Tyr)
c.4519A>T (p.Asn1507Tyr)
c.4150A>T (p.Asn1384Tyr)
 dbSNP
5g.112840594A=CA1573472983APCc.5054A= (p.Asn1685=)
c.*5006A= (n.*5006A=)
c.4946A= (p.Asn1649=)
c.5000A= (p.Asn1667=)
c.*4322A= (n.*4322A=)
c.230+11622A=
c.5030A= (p.Asn1677=)
c.4925A= (p.Asn1642=)
c.4916A= (p.Asn1639=)
c.4877A= (p.Asn1626=)
c.4823A= (p.Asn1608=)
c.4727A= (p.Asn1576=)
c.4697A= (p.Asn1566=)
c.4622A= (p.Asn1541=)
c.4520A= (p.Asn1507=)
c.4151A= (p.Asn1384=)
5g.112840594A>CCA16032271APCc.5054A>C (p.Asn1685Thr)
c.*5006A>C (n.*5006A>C)
c.4946A>C (p.Asn1649Thr)
c.5000A>C (p.Asn1667Thr)
c.*4322A>C (n.*4322A>C)
c.230+11622A>C
c.5030A>C (p.Asn1677Thr)
c.4925A>C (p.Asn1642Thr)
c.4916A>C (p.Asn1639Thr)
c.4877A>C (p.Asn1626Thr)
c.4823A>C (p.Asn1608Thr)
c.4727A>C (p.Asn1576Thr)
c.4697A>C (p.Asn1566Thr)
c.4622A>C (p.Asn1541Thr)
c.4520A>C (p.Asn1507Thr)
c.4151A>C (p.Asn1384Thr)
 ClinVar
5g.112840594A>GCA16032272APCc.5054A>G (p.Asn1685Ser)
c.*5006A>G (n.*5006A>G)
c.4946A>G (p.Asn1649Ser)
c.5000A>G (p.Asn1667Ser)
c.*4322A>G (n.*4322A>G)
c.230+11622A>G
c.5030A>G (p.Asn1677Ser)
c.4925A>G (p.Asn1642Ser)
c.4916A>G (p.Asn1639Ser)
c.4877A>G (p.Asn1626Ser)
c.4823A>G (p.Asn1608Ser)
c.4727A>G (p.Asn1576Ser)
c.4697A>G (p.Asn1566Ser)
c.4622A>G (p.Asn1541Ser)
c.4520A>G (p.Asn1507Ser)
c.4151A>G (p.Asn1384Ser)
 ClinVar dbSNP
5g.112840594A>TCA16032273APCc.5054A>T (p.Asn1685Ile)
c.*5006A>T (n.*5006A>T)
c.4946A>T (p.Asn1649Ile)
c.5000A>T (p.Asn1667Ile)
c.*4322A>T (n.*4322A>T)
c.230+11622A>T
c.5030A>T (p.Asn1677Ile)
c.4925A>T (p.Asn1642Ile)
c.4916A>T (p.Asn1639Ile)
c.4877A>T (p.Asn1626Ile)
c.4823A>T (p.Asn1608Ile)
c.4727A>T (p.Asn1576Ile)
c.4697A>T (p.Asn1566Ile)
c.4622A>T (p.Asn1541Ile)
c.4520A>T (p.Asn1507Ile)
c.4151A>T (p.Asn1384Ile)
 dbSNP
5g.112840595T>ACA16032274APCc.5055T>A (p.Asn1685Lys)
c.*5007T>A (n.*5007T>A)
c.4947T>A (p.Asn1649Lys)
c.5001T>A (p.Asn1667Lys)
c.*4323T>A (n.*4323T>A)
c.230+11623T>A
c.5031T>A (p.Asn1677Lys)
c.4926T>A (p.Asn1642Lys)
c.4917T>A (p.Asn1639Lys)
c.4878T>A (p.Asn1626Lys)
c.4824T>A (p.Asn1608Lys)
c.4728T>A (p.Asn1576Lys)
c.4698T>A (p.Asn1566Lys)
c.4623T>A (p.Asn1541Lys)
c.4521T>A (p.Asn1507Lys)
c.4152T>A (p.Asn1384Lys)
 ClinVar dbSNP gnomAD v4
5g.112840595T>CCA446208751APCc.5055T>C (p.Asn1685=)
c.*5007T>C (n.*5007T>C)
c.4947T>C (p.Asn1649=)
c.5001T>C (p.Asn1667=)
c.*4323T>C (n.*4323T>C)
c.230+11623T>C
c.5031T>C (p.Asn1677=)
c.4926T>C (p.Asn1642=)
c.4917T>C (p.Asn1639=)
c.4878T>C (p.Asn1626=)
c.4824T>C (p.Asn1608=)
c.4728T>C (p.Asn1576=)
c.4698T>C (p.Asn1566=)
c.4623T>C (p.Asn1541=)
c.4521T>C (p.Asn1507=)
c.4152T>C (p.Asn1384=)
5g.112840595T>GCA16032275APCc.5055T>G (p.Asn1685Lys)
c.*5007T>G (n.*5007T>G)
c.4947T>G (p.Asn1649Lys)
c.5001T>G (p.Asn1667Lys)
c.*4323T>G (n.*4323T>G)
c.230+11623T>G
c.5031T>G (p.Asn1677Lys)
c.4926T>G (p.Asn1642Lys)
c.4917T>G (p.Asn1639Lys)
c.4878T>G (p.Asn1626Lys)
c.4824T>G (p.Asn1608Lys)
c.4728T>G (p.Asn1576Lys)
c.4698T>G (p.Asn1566Lys)
c.4623T>G (p.Asn1541Lys)
c.4521T>G (p.Asn1507Lys)
c.4152T>G (p.Asn1384Lys)
 ClinVar gnomAD v3 gnomAD v4
5g.112840595T=CA1573472993APCc.5055T= (p.Asn1685=)
c.*5007T= (n.*5007T=)
c.4947T= (p.Asn1649=)
c.5001T= (p.Asn1667=)
c.*4323T= (n.*4323T=)
c.230+11623T=
c.5031T= (p.Asn1677=)
c.4926T= (p.Asn1642=)
c.4917T= (p.Asn1639=)
c.4878T= (p.Asn1626=)
c.4824T= (p.Asn1608=)
c.4728T= (p.Asn1576=)
c.4698T= (p.Asn1566=)
c.4623T= (p.Asn1541=)
c.4521T= (p.Asn1507=)
c.4152T= (p.Asn1384=)
5g.112840596G>ACA16032276APCc.5056G>A (p.Glu1686Lys)
c.*5008G>A (n.*5008G>A)
c.4948G>A (p.Glu1650Lys)
c.5002G>A (p.Glu1668Lys)
c.*4324G>A (n.*4324G>A)
c.230+11624G>A
c.5032G>A (p.Glu1678Lys)
c.4927G>A (p.Glu1643Lys)
c.4918G>A (p.Glu1640Lys)
c.4879G>A (p.Glu1627Lys)
c.4825G>A (p.Glu1609Lys)
c.4729G>A (p.Glu1577Lys)
c.4699G>A (p.Glu1567Lys)
c.4624G>A (p.Glu1542Lys)
c.4522G>A (p.Glu1508Lys)
c.4153G>A (p.Glu1385Lys)
 dbSNP
5g.112840596G>CCA16032277APCc.5056G>C (p.Glu1686Gln)
c.*5008G>C (n.*5008G>C)
c.4948G>C (p.Glu1650Gln)
c.5002G>C (p.Glu1668Gln)
c.*4324G>C (n.*4324G>C)
c.230+11624G>C
c.5032G>C (p.Glu1678Gln)
c.4927G>C (p.Glu1643Gln)
c.4918G>C (p.Glu1640Gln)
c.4879G>C (p.Glu1627Gln)
c.4825G>C (p.Glu1609Gln)
c.4729G>C (p.Glu1577Gln)
c.4699G>C (p.Glu1567Gln)
c.4624G>C (p.Glu1542Gln)
c.4522G>C (p.Glu1508Gln)
c.4153G>C (p.Glu1385Gln)
 dbSNP
5g.112840596G>TCA16032278APCc.5056G>T (p.Glu1686Ter)
c.*5008G>T (n.*5008G>T)
c.4948G>T (p.Glu1650Ter)
c.5002G>T (p.Glu1668Ter)
c.*4324G>T (n.*4324G>T)
c.230+11624G>T
c.5032G>T (p.Glu1678Ter)
c.4927G>T (p.Glu1643Ter)
c.4918G>T (p.Glu1640Ter)
c.4879G>T (p.Glu1627Ter)
c.4825G>T (p.Glu1609Ter)
c.4729G>T (p.Glu1577Ter)
c.4699G>T (p.Glu1567Ter)
c.4624G>T (p.Glu1542Ter)
c.4522G>T (p.Glu1508Ter)
c.4153G>T (p.Glu1385Ter)
 gnomAD v4
5g.112840596_112840600delinsGAGTTCA1573473000APCc.5056_5060delinsGAGTT (p.Glu1686=)
c.*5008_*5012delinsGAGTT (n.*5008_*5012delinsGAGTT)
c.4948_4952delinsGAGTT (p.Glu1650=)
c.5002_5006delinsGAGTT (p.Glu1668=)
c.*4324_*4328delinsGAGTT (n.*4324_*4328delinsGAGTT)
c.230+11624_230+11628delinsGAGTT
c.5032_5036delinsGAGTT (p.Glu1678=)
c.4927_4931delinsGAGTT (p.Glu1643=)
c.4918_4922delinsGAGTT (p.Glu1640=)
c.4879_4883delinsGAGTT (p.Glu1627=)
c.4825_4829delinsGAGTT (p.Glu1609=)
c.4729_4733delinsGAGTT (p.Glu1577=)
c.4699_4703delinsGAGTT (p.Glu1567=)
c.4624_4628delinsGAGTT (p.Glu1542=)
c.4522_4526delinsGAGTT (p.Glu1508=)
c.4153_4157delinsGAGTT (p.Glu1385=)
5g.112840603_112840621delCA2710009982APCc.5063_5081del (p.Ala1688GlufsTer?)
c.*5015_*5033del (n.*5015_*5033del)
c.4955_4973del (p.Ala1652GlufsTer?)
c.5009_5027del (p.Ala1670GlufsTer?)
c.*4331_*4349del (n.*4331_*4349del)
c.230+11631_230+11649del
c.5039_5057del (p.Ala1680GlufsTer?)
c.4934_4952del (p.Ala1645GlufsTer?)
c.4925_4943del (p.Ala1642GlufsTer?)
c.4886_4904del (p.Ala1629GlufsTer?)
c.4832_4850del (p.Ala1611GlufsTer?)
c.4736_4754del (p.Ala1579GlufsTer?)
c.4706_4724del (p.Ala1569GlufsTer?)
c.4631_4649del (p.Ala1544GlufsTer?)
c.4529_4547del (p.Ala1510GlufsTer?)
c.4160_4178del (p.Ala1387GlufsTer?)
 dbSNP
5g.112840597A=CA1573473018APCc.5057A= (p.Glu1686=)
c.*5009A= (n.*5009A=)
c.4949A= (p.Glu1650=)
c.5003A= (p.Glu1668=)
c.*4325A= (n.*4325A=)
c.230+11625A=
c.5033A= (p.Glu1678=)
c.4928A= (p.Glu1643=)
c.4919A= (p.Glu1640=)
c.4880A= (p.Glu1627=)
c.4826A= (p.Glu1609=)
c.4730A= (p.Glu1577=)
c.4700A= (p.Glu1567=)
c.4625A= (p.Glu1542=)
c.4523A= (p.Glu1508=)
c.4154A= (p.Glu1385=)
5g.112840597A>CCA16032279APCc.5057A>C (p.Glu1686Ala)
c.*5009A>C (n.*5009A>C)
c.4949A>C (p.Glu1650Ala)
c.5003A>C (p.Glu1668Ala)
c.*4325A>C (n.*4325A>C)
c.230+11625A>C
c.5033A>C (p.Glu1678Ala)
c.4928A>C (p.Glu1643Ala)
c.4919A>C (p.Glu1640Ala)
c.4880A>C (p.Glu1627Ala)
c.4826A>C (p.Glu1609Ala)
c.4730A>C (p.Glu1577Ala)
c.4700A>C (p.Glu1567Ala)
c.4625A>C (p.Glu1542Ala)
c.4523A>C (p.Glu1508Ala)
c.4154A>C (p.Glu1385Ala)
5g.112840597A>GCA16032280APCc.5057A>G (p.Glu1686Gly)
c.*5009A>G (n.*5009A>G)
c.4949A>G (p.Glu1650Gly)
c.5003A>G (p.Glu1668Gly)
c.*4325A>G (n.*4325A>G)
c.230+11625A>G
c.5033A>G (p.Glu1678Gly)
c.4928A>G (p.Glu1643Gly)
c.4919A>G (p.Glu1640Gly)
c.4880A>G (p.Glu1627Gly)
c.4826A>G (p.Glu1609Gly)
c.4730A>G (p.Glu1577Gly)
c.4700A>G (p.Glu1567Gly)
c.4625A>G (p.Glu1542Gly)
c.4523A>G (p.Glu1508Gly)
c.4154A>G (p.Glu1385Gly)
 ClinVar dbSNP
5g.112840597A>TCA16032281APCc.5057A>T (p.Glu1686Val)
c.*5009A>T (n.*5009A>T)
c.4949A>T (p.Glu1650Val)
c.5003A>T (p.Glu1668Val)
c.*4325A>T (n.*4325A>T)
c.230+11625A>T
c.5033A>T (p.Glu1678Val)
c.4928A>T (p.Glu1643Val)
c.4919A>T (p.Glu1640Val)
c.4880A>T (p.Glu1627Val)
c.4826A>T (p.Glu1609Val)
c.4730A>T (p.Glu1577Val)
c.4700A>T (p.Glu1567Val)
c.4625A>T (p.Glu1542Val)
c.4523A>T (p.Glu1508Val)
c.4154A>T (p.Glu1385Val)
 dbSNP
5g.112840599_112840602delCA658683424APCc.5059_5062del (p.Ala1688LeufsTer?)
c.*5011_*5014del (n.*5011_*5014del)
c.4951_4954del (p.Ala1652LeufsTer?)
c.5005_5008del (p.Ala1670LeufsTer?)
c.*4327_*4330del (n.*4327_*4330del)
c.230+11627_230+11630del
c.5035_5038del (p.Ala1680LeufsTer?)
c.4930_4933del (p.Ala1645LeufsTer?)
c.4921_4924del (p.Ala1642LeufsTer?)
c.4882_4885del (p.Ala1629LeufsTer?)
c.4828_4831del (p.Ala1611LeufsTer?)
c.4732_4735del (p.Ala1579LeufsTer?)
c.4702_4705del (p.Ala1569LeufsTer?)
c.4627_4630del (p.Ala1544LeufsTer?)
c.4525_4528del (p.Ala1510LeufsTer?)
c.4156_4159del (p.Ala1387LeufsTer?)
 ClinVar dbSNP
5g.112840598G>ACA446208752APCc.5058G>A (p.Glu1686=)
c.*5010G>A (n.*5010G>A)
c.4950G>A (p.Glu1650=)
c.5004G>A (p.Glu1668=)
c.*4326G>A (n.*4326G>A)
c.230+11626G>A
c.5034G>A (p.Glu1678=)
c.4929G>A (p.Glu1643=)
c.4920G>A (p.Glu1640=)
c.4881G>A (p.Glu1627=)
c.4827G>A (p.Glu1609=)
c.4731G>A (p.Glu1577=)
c.4701G>A (p.Glu1567=)
c.4626G>A (p.Glu1542=)
c.4524G>A (p.Glu1508=)
c.4155G>A (p.Glu1385=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840598G>CCA16032282APCc.5058G>C (p.Glu1686Asp)
c.*5010G>C (n.*5010G>C)
c.4950G>C (p.Glu1650Asp)
c.5004G>C (p.Glu1668Asp)
c.*4326G>C (n.*4326G>C)
c.230+11626G>C
c.5034G>C (p.Glu1678Asp)
c.4929G>C (p.Glu1643Asp)
c.4920G>C (p.Glu1640Asp)
c.4881G>C (p.Glu1627Asp)
c.4827G>C (p.Glu1609Asp)
c.4731G>C (p.Glu1577Asp)
c.4701G>C (p.Glu1567Asp)
c.4626G>C (p.Glu1542Asp)
c.4524G>C (p.Glu1508Asp)
c.4155G>C (p.Glu1385Asp)
 ClinVar
5g.112840598G=CA1573473025APCc.5058G= (p.Glu1686=)
c.*5010G= (n.*5010G=)
c.4950G= (p.Glu1650=)
c.5004G= (p.Glu1668=)
c.*4326G= (n.*4326G=)
c.230+11626G=
c.5034G= (p.Glu1678=)
c.4929G= (p.Glu1643=)
c.4920G= (p.Glu1640=)
c.4881G= (p.Glu1627=)
c.4827G= (p.Glu1609=)
c.4731G= (p.Glu1577=)
c.4701G= (p.Glu1567=)
c.4626G= (p.Glu1542=)
c.4524G= (p.Glu1508=)
c.4155G= (p.Glu1385=)
5g.112840598G>TCA16032283APCc.5058G>T (p.Glu1686Asp)
c.*5010G>T (n.*5010G>T)
c.4950G>T (p.Glu1650Asp)
c.5004G>T (p.Glu1668Asp)
c.*4326G>T (n.*4326G>T)
c.230+11626G>T
c.5034G>T (p.Glu1678Asp)
c.4929G>T (p.Glu1643Asp)
c.4920G>T (p.Glu1640Asp)
c.4881G>T (p.Glu1627Asp)
c.4827G>T (p.Glu1609Asp)
c.4731G>T (p.Glu1577Asp)
c.4701G>T (p.Glu1567Asp)
c.4626G>T (p.Glu1542Asp)
c.4524G>T (p.Glu1508Asp)
c.4155G>T (p.Glu1385Asp)
5g.112840599T>ACA16032284APCc.5059T>A (p.Leu1687Ile)
c.*5011T>A (n.*5011T>A)
c.4951T>A (p.Leu1651Ile)
c.5005T>A (p.Leu1669Ile)
c.*4327T>A (n.*4327T>A)
c.230+11627T>A
c.5035T>A (p.Leu1679Ile)
c.4930T>A (p.Leu1644Ile)
c.4921T>A (p.Leu1641Ile)
c.4882T>A (p.Leu1628Ile)
c.4828T>A (p.Leu1610Ile)
c.4732T>A (p.Leu1578Ile)
c.4702T>A (p.Leu1568Ile)
c.4627T>A (p.Leu1543Ile)
c.4525T>A (p.Leu1509Ile)
c.4156T>A (p.Leu1386Ile)
 dbSNP
5g.112840599T>CCA446208753APCc.5059T>C (p.Leu1687=)
c.*5011T>C (n.*5011T>C)
c.4951T>C (p.Leu1651=)
c.5005T>C (p.Leu1669=)
c.*4327T>C (n.*4327T>C)
c.230+11627T>C
c.5035T>C (p.Leu1679=)
c.4930T>C (p.Leu1644=)
c.4921T>C (p.Leu1641=)
c.4882T>C (p.Leu1628=)
c.4828T>C (p.Leu1610=)
c.4732T>C (p.Leu1578=)
c.4702T>C (p.Leu1568=)
c.4627T>C (p.Leu1543=)
c.4525T>C (p.Leu1509=)
c.4156T>C (p.Leu1386=)
 dbSNP
5g.112840599T>GCA16032285APCc.5059T>G (p.Leu1687Val)
c.*5011T>G (n.*5011T>G)
c.4951T>G (p.Leu1651Val)
c.5005T>G (p.Leu1669Val)
c.*4327T>G (n.*4327T>G)
c.230+11627T>G
c.5035T>G (p.Leu1679Val)
c.4930T>G (p.Leu1644Val)
c.4921T>G (p.Leu1641Val)
c.4882T>G (p.Leu1628Val)
c.4828T>G (p.Leu1610Val)
c.4732T>G (p.Leu1578Val)
c.4702T>G (p.Leu1568Val)
c.4627T>G (p.Leu1543Val)
c.4525T>G (p.Leu1509Val)
c.4156T>G (p.Leu1386Val)
 dbSNP
5g.112840600T>ACA16032286APCc.5060T>A (p.Leu1687Ter)
c.*5012T>A (n.*5012T>A)
c.4952T>A (p.Leu1651Ter)
c.5006T>A (p.Leu1669Ter)
c.*4328T>A (n.*4328T>A)
c.230+11628T>A
c.5036T>A (p.Leu1679Ter)
c.4931T>A (p.Leu1644Ter)
c.4922T>A (p.Leu1641Ter)
c.4883T>A (p.Leu1628Ter)
c.4829T>A (p.Leu1610Ter)
c.4733T>A (p.Leu1578Ter)
c.4703T>A (p.Leu1568Ter)
c.4628T>A (p.Leu1543Ter)
c.4526T>A (p.Leu1509Ter)
c.4157T>A (p.Leu1386Ter)
 dbSNP
5g.112840600T>CCA16032287APCc.5060T>C (p.Leu1687Ser)
c.*5012T>C (n.*5012T>C)
c.4952T>C (p.Leu1651Ser)
c.5006T>C (p.Leu1669Ser)
c.*4328T>C (n.*4328T>C)
c.230+11628T>C
c.5036T>C (p.Leu1679Ser)
c.4931T>C (p.Leu1644Ser)
c.4922T>C (p.Leu1641Ser)
c.4883T>C (p.Leu1628Ser)
c.4829T>C (p.Leu1610Ser)
c.4733T>C (p.Leu1578Ser)
c.4703T>C (p.Leu1568Ser)
c.4628T>C (p.Leu1543Ser)
c.4526T>C (p.Leu1509Ser)
c.4157T>C (p.Leu1386Ser)
 COSMIC
5g.112840600T>GCA16032288APCc.5060T>G (p.Leu1687Ter)
c.*5012T>G (n.*5012T>G)
c.4952T>G (p.Leu1651Ter)
c.5006T>G (p.Leu1669Ter)
c.*4328T>G (n.*4328T>G)
c.230+11628T>G
c.5036T>G (p.Leu1679Ter)
c.4931T>G (p.Leu1644Ter)
c.4922T>G (p.Leu1641Ter)
c.4883T>G (p.Leu1628Ter)
c.4829T>G (p.Leu1610Ter)
c.4733T>G (p.Leu1578Ter)
c.4703T>G (p.Leu1568Ter)
c.4628T>G (p.Leu1543Ter)
c.4526T>G (p.Leu1509Ter)
c.4157T>G (p.Leu1386Ter)
5g.112840601A>CCA16032289APCc.5061A>C (p.Leu1687Phe)
c.*5013A>C (n.*5013A>C)
c.4953A>C (p.Leu1651Phe)
c.5007A>C (p.Leu1669Phe)
c.*4329A>C (n.*4329A>C)
c.230+11629A>C
c.5037A>C (p.Leu1679Phe)
c.4932A>C (p.Leu1644Phe)
c.4923A>C (p.Leu1641Phe)
c.4884A>C (p.Leu1628Phe)
c.4830A>C (p.Leu1610Phe)
c.4734A>C (p.Leu1578Phe)
c.4704A>C (p.Leu1568Phe)
c.4629A>C (p.Leu1543Phe)
c.4527A>C (p.Leu1509Phe)
c.4158A>C (p.Leu1386Phe)
5g.112840601A>GCA446208754APCc.5061A>G (p.Leu1687=)
c.*5013A>G (n.*5013A>G)
c.4953A>G (p.Leu1651=)
c.5007A>G (p.Leu1669=)
c.*4329A>G (n.*4329A>G)
c.230+11629A>G
c.5037A>G (p.Leu1679=)
c.4932A>G (p.Leu1644=)
c.4923A>G (p.Leu1641=)
c.4884A>G (p.Leu1628=)
c.4830A>G (p.Leu1610=)
c.4734A>G (p.Leu1578=)
c.4704A>G (p.Leu1568=)
c.4629A>G (p.Leu1543=)
c.4527A>G (p.Leu1509=)
c.4158A>G (p.Leu1386=)
 dbSNP
5g.112840601A>TCA16032290APCc.5061A>T (p.Leu1687Phe)
c.*5013A>T (n.*5013A>T)
c.4953A>T (p.Leu1651Phe)
c.5007A>T (p.Leu1669Phe)
c.*4329A>T (n.*4329A>T)
c.230+11629A>T
c.5037A>T (p.Leu1679Phe)
c.4932A>T (p.Leu1644Phe)
c.4923A>T (p.Leu1641Phe)
c.4884A>T (p.Leu1628Phe)
c.4830A>T (p.Leu1610Phe)
c.4734A>T (p.Leu1578Phe)
c.4704A>T (p.Leu1568Phe)
c.4629A>T (p.Leu1543Phe)
c.4527A>T (p.Leu1509Phe)
c.4158A>T (p.Leu1386Phe)
 dbSNP
5g.112840602G>ACA16032291APCc.5062G>A (p.Ala1688Thr)
c.*5014G>A (n.*5014G>A)
c.4954G>A (p.Ala1652Thr)
c.5008G>A (p.Ala1670Thr)
c.*4330G>A (n.*4330G>A)
c.230+11630G>A
c.5038G>A (p.Ala1680Thr)
c.4933G>A (p.Ala1645Thr)
c.4924G>A (p.Ala1642Thr)
c.4885G>A (p.Ala1629Thr)
c.4831G>A (p.Ala1611Thr)
c.4735G>A (p.Ala1579Thr)
c.4705G>A (p.Ala1569Thr)
c.4630G>A (p.Ala1544Thr)
c.4528G>A (p.Ala1510Thr)
c.4159G>A (p.Ala1387Thr)
 dbSNP
5g.112840602G>CCA16032292APCc.5062G>C (p.Ala1688Pro)
c.*5014G>C (n.*5014G>C)
c.4954G>C (p.Ala1652Pro)
c.5008G>C (p.Ala1670Pro)
c.*4330G>C (n.*4330G>C)
c.230+11630G>C
c.5038G>C (p.Ala1680Pro)
c.4933G>C (p.Ala1645Pro)
c.4924G>C (p.Ala1642Pro)
c.4885G>C (p.Ala1629Pro)
c.4831G>C (p.Ala1611Pro)
c.4735G>C (p.Ala1579Pro)
c.4705G>C (p.Ala1569Pro)
c.4630G>C (p.Ala1544Pro)
c.4528G>C (p.Ala1510Pro)
c.4159G>C (p.Ala1387Pro)
 dbSNP
5g.112840602G>TCA16032293APCc.5062G>T (p.Ala1688Ser)
c.*5014G>T (n.*5014G>T)
c.4954G>T (p.Ala1652Ser)
c.5008G>T (p.Ala1670Ser)
c.*4330G>T (n.*4330G>T)
c.230+11630G>T
c.5038G>T (p.Ala1680Ser)
c.4933G>T (p.Ala1645Ser)
c.4924G>T (p.Ala1642Ser)
c.4885G>T (p.Ala1629Ser)
c.4831G>T (p.Ala1611Ser)
c.4735G>T (p.Ala1579Ser)
c.4705G>T (p.Ala1569Ser)
c.4630G>T (p.Ala1544Ser)
c.4528G>T (p.Ala1510Ser)
c.4159G>T (p.Ala1387Ser)
 dbSNP
5g.112840603C>ACA16032294APCc.5063C>A (p.Ala1688Asp)
c.*5015C>A (n.*5015C>A)
c.4955C>A (p.Ala1652Asp)
c.5009C>A (p.Ala1670Asp)
c.*4331C>A (n.*4331C>A)
c.230+11631C>A
c.5039C>A (p.Ala1680Asp)
c.4934C>A (p.Ala1645Asp)
c.4925C>A (p.Ala1642Asp)
c.4886C>A (p.Ala1629Asp)
c.4832C>A (p.Ala1611Asp)
c.4736C>A (p.Ala1579Asp)
c.4706C>A (p.Ala1569Asp)
c.4631C>A (p.Ala1544Asp)
c.4529C>A (p.Ala1510Asp)
c.4160C>A (p.Ala1387Asp)
 dbSNP
5g.112840603C=CA1573473041APCc.5063C= (p.Ala1688=)
c.*5015C= (n.*5015C=)
c.4955C= (p.Ala1652=)
c.5009C= (p.Ala1670=)
c.*4331C= (n.*4331C=)
c.230+11631C=
c.5039C= (p.Ala1680=)
c.4934C= (p.Ala1645=)
c.4925C= (p.Ala1642=)
c.4886C= (p.Ala1629=)
c.4832C= (p.Ala1611=)
c.4736C= (p.Ala1579=)
c.4706C= (p.Ala1569=)
c.4631C= (p.Ala1544=)
c.4529C= (p.Ala1510=)
c.4160C= (p.Ala1387=)
5g.112840603C>GCA16032295APCc.5063C>G (p.Ala1688Gly)
c.*5015C>G (n.*5015C>G)
c.4955C>G (p.Ala1652Gly)
c.5009C>G (p.Ala1670Gly)
c.*4331C>G (n.*4331C>G)
c.230+11631C>G
c.5039C>G (p.Ala1680Gly)
c.4934C>G (p.Ala1645Gly)
c.4925C>G (p.Ala1642Gly)
c.4886C>G (p.Ala1629Gly)
c.4832C>G (p.Ala1611Gly)
c.4736C>G (p.Ala1579Gly)
c.4706C>G (p.Ala1569Gly)
c.4631C>G (p.Ala1544Gly)
c.4529C>G (p.Ala1510Gly)
c.4160C>G (p.Ala1387Gly)
 dbSNP
5g.112840603C>TCA009818APCc.5063C>T (p.Ala1688Val)
c.*5015C>T (n.*5015C>T)
c.4955C>T (p.Ala1652Val)
c.5009C>T (p.Ala1670Val)
c.*4331C>T (n.*4331C>T)
c.230+11631C>T
c.5039C>T (p.Ala1680Val)
c.4934C>T (p.Ala1645Val)
c.4925C>T (p.Ala1642Val)
c.4886C>T (p.Ala1629Val)
c.4832C>T (p.Ala1611Val)
c.4736C>T (p.Ala1579Val)
c.4706C>T (p.Ala1569Val)
c.4631C>T (p.Ala1544Val)
c.4529C>T (p.Ala1510Val)
c.4160C>T (p.Ala1387Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840604T>ACA446208755APCc.5064T>A (p.Ala1688=)
c.*5016T>A (n.*5016T>A)
c.4956T>A (p.Ala1652=)
c.5010T>A (p.Ala1670=)
c.*4332T>A (n.*4332T>A)
c.230+11632T>A
c.5040T>A (p.Ala1680=)
c.4935T>A (p.Ala1645=)
c.4926T>A (p.Ala1642=)
c.4887T>A (p.Ala1629=)
c.4833T>A (p.Ala1611=)
c.4737T>A (p.Ala1579=)
c.4707T>A (p.Ala1569=)
c.4632T>A (p.Ala1544=)
c.4530T>A (p.Ala1510=)
c.4161T>A (p.Ala1387=)
 dbSNP
5g.112840604T>CCA446208756APCc.5064T>C (p.Ala1688=)
c.*5016T>C (n.*5016T>C)
c.4956T>C (p.Ala1652=)
c.5010T>C (p.Ala1670=)
c.*4332T>C (n.*4332T>C)
c.230+11632T>C
c.5040T>C (p.Ala1680=)
c.4935T>C (p.Ala1645=)
c.4926T>C (p.Ala1642=)
c.4887T>C (p.Ala1629=)
c.4833T>C (p.Ala1611=)
c.4737T>C (p.Ala1579=)
c.4707T>C (p.Ala1569=)
c.4632T>C (p.Ala1544=)
c.4530T>C (p.Ala1510=)
c.4161T>C (p.Ala1387=)
 ClinVar dbSNP gnomAD v4
5g.112840604T>GCA446208757APCc.5064T>G (p.Ala1688=)
c.*5016T>G (n.*5016T>G)
c.4956T>G (p.Ala1652=)
c.5010T>G (p.Ala1670=)
c.*4332T>G (n.*4332T>G)
c.230+11632T>G
c.5040T>G (p.Ala1680=)
c.4935T>G (p.Ala1645=)
c.4926T>G (p.Ala1642=)
c.4887T>G (p.Ala1629=)
c.4833T>G (p.Ala1611=)
c.4737T>G (p.Ala1579=)
c.4707T>G (p.Ala1569=)
c.4632T>G (p.Ala1544=)
c.4530T>G (p.Ala1510=)
c.4161T>G (p.Ala1387=)
 ClinVar gnomAD v4
5g.112840604T=CA1573473050APCc.5064T= (p.Ala1688=)
c.*5016T= (n.*5016T=)
c.4956T= (p.Ala1652=)
c.5010T= (p.Ala1670=)
c.*4332T= (n.*4332T=)
c.230+11632T=
c.5040T= (p.Ala1680=)
c.4935T= (p.Ala1645=)
c.4926T= (p.Ala1642=)
c.4887T= (p.Ala1629=)
c.4833T= (p.Ala1611=)
c.4737T= (p.Ala1579=)
c.4707T= (p.Ala1569=)
c.4632T= (p.Ala1544=)
c.4530T= (p.Ala1510=)
c.4161T= (p.Ala1387=)
5g.112840605G>ACA16032296APCc.5065G>A (p.Ala1689Thr)
c.*5017G>A (n.*5017G>A)
c.4957G>A (p.Ala1653Thr)
c.5011G>A (p.Ala1671Thr)
c.*4333G>A (n.*4333G>A)
c.230+11633G>A
c.5041G>A (p.Ala1681Thr)
c.4936G>A (p.Ala1646Thr)
c.4927G>A (p.Ala1643Thr)
c.4888G>A (p.Ala1630Thr)
c.4834G>A (p.Ala1612Thr)
c.4738G>A (p.Ala1580Thr)
c.4708G>A (p.Ala1570Thr)
c.4633G>A (p.Ala1545Thr)
c.4531G>A (p.Ala1511Thr)
c.4162G>A (p.Ala1388Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840605G>CCA009825APCc.5065G>C (p.Ala1689Pro)
c.*5017G>C (n.*5017G>C)
c.4957G>C (p.Ala1653Pro)
c.5011G>C (p.Ala1671Pro)
c.*4333G>C (n.*4333G>C)
c.230+11633G>C
c.5041G>C (p.Ala1681Pro)
c.4936G>C (p.Ala1646Pro)
c.4927G>C (p.Ala1643Pro)
c.4888G>C (p.Ala1630Pro)
c.4834G>C (p.Ala1612Pro)
c.4738G>C (p.Ala1580Pro)
c.4708G>C (p.Ala1570Pro)
c.4633G>C (p.Ala1545Pro)
c.4531G>C (p.Ala1511Pro)
c.4162G>C (p.Ala1388Pro)
 ClinVar dbSNP
5g.112840605G=CA1573473056APCc.5065G= (p.Ala1689=)
c.*5017G= (n.*5017G=)
c.4957G= (p.Ala1653=)
c.5011G= (p.Ala1671=)
c.*4333G= (n.*4333G=)
c.230+11633G=
c.5041G= (p.Ala1681=)
c.4936G= (p.Ala1646=)
c.4927G= (p.Ala1643=)
c.4888G= (p.Ala1630=)
c.4834G= (p.Ala1612=)
c.4738G= (p.Ala1580=)
c.4708G= (p.Ala1570=)
c.4633G= (p.Ala1545=)
c.4531G= (p.Ala1511=)
c.4162G= (p.Ala1388=)
5g.112840605G>TCA16032297APCc.5065G>T (p.Ala1689Ser)
c.*5017G>T (n.*5017G>T)
c.4957G>T (p.Ala1653Ser)
c.5011G>T (p.Ala1671Ser)
c.*4333G>T (n.*4333G>T)
c.230+11633G>T
c.5041G>T (p.Ala1681Ser)
c.4936G>T (p.Ala1646Ser)
c.4927G>T (p.Ala1643Ser)
c.4888G>T (p.Ala1630Ser)
c.4834G>T (p.Ala1612Ser)
c.4738G>T (p.Ala1580Ser)
c.4708G>T (p.Ala1570Ser)
c.4633G>T (p.Ala1545Ser)
c.4531G>T (p.Ala1511Ser)
c.4162G>T (p.Ala1388Ser)
 dbSNP gnomAD v4
5g.112840606C>ACA16032298APCc.5066C>A (p.Ala1689Asp)
c.*5018C>A (n.*5018C>A)
c.4958C>A (p.Ala1653Asp)
c.5012C>A (p.Ala1671Asp)
c.*4334C>A (n.*4334C>A)
c.230+11634C>A
c.5042C>A (p.Ala1681Asp)
c.4937C>A (p.Ala1646Asp)
c.4928C>A (p.Ala1643Asp)
c.4889C>A (p.Ala1630Asp)
c.4835C>A (p.Ala1612Asp)
c.4739C>A (p.Ala1580Asp)
c.4709C>A (p.Ala1570Asp)
c.4634C>A (p.Ala1545Asp)
c.4532C>A (p.Ala1511Asp)
c.4163C>A (p.Ala1388Asp)
 dbSNP
5g.112840606C>GCA16032299APCc.5066C>G (p.Ala1689Gly)
c.*5018C>G (n.*5018C>G)
c.4958C>G (p.Ala1653Gly)
c.5012C>G (p.Ala1671Gly)
c.*4334C>G (n.*4334C>G)
c.230+11634C>G
c.5042C>G (p.Ala1681Gly)
c.4937C>G (p.Ala1646Gly)
c.4928C>G (p.Ala1643Gly)
c.4889C>G (p.Ala1630Gly)
c.4835C>G (p.Ala1612Gly)
c.4739C>G (p.Ala1580Gly)
c.4709C>G (p.Ala1570Gly)
c.4634C>G (p.Ala1545Gly)
c.4532C>G (p.Ala1511Gly)
c.4163C>G (p.Ala1388Gly)
 dbSNP
5g.112840606C>TCA16032300APCc.5066C>T (p.Ala1689Val)
c.*5018C>T (n.*5018C>T)
c.4958C>T (p.Ala1653Val)
c.5012C>T (p.Ala1671Val)
c.*4334C>T (n.*4334C>T)
c.230+11634C>T
c.5042C>T (p.Ala1681Val)
c.4937C>T (p.Ala1646Val)
c.4928C>T (p.Ala1643Val)
c.4889C>T (p.Ala1630Val)
c.4835C>T (p.Ala1612Val)
c.4739C>T (p.Ala1580Val)
c.4709C>T (p.Ala1570Val)
c.4634C>T (p.Ala1545Val)
c.4532C>T (p.Ala1511Val)
c.4163C>T (p.Ala1388Val)
 dbSNP
5g.112840607T>ACA446208758APCc.5067T>A (p.Ala1689=)
c.*5019T>A (n.*5019T>A)
c.4959T>A (p.Ala1653=)
c.5013T>A (p.Ala1671=)
c.*4335T>A (n.*4335T>A)
c.230+11635T>A
c.5043T>A (p.Ala1681=)
c.4938T>A (p.Ala1646=)
c.4929T>A (p.Ala1643=)
c.4890T>A (p.Ala1630=)
c.4836T>A (p.Ala1612=)
c.4740T>A (p.Ala1580=)
c.4710T>A (p.Ala1570=)
c.4635T>A (p.Ala1545=)
c.4533T>A (p.Ala1511=)
c.4164T>A (p.Ala1388=)
5g.112840607T>CCA446208759APCc.5067T>C (p.Ala1689=)
c.*5019T>C (n.*5019T>C)
c.4959T>C (p.Ala1653=)
c.5013T>C (p.Ala1671=)
c.*4335T>C (n.*4335T>C)
c.230+11635T>C
c.5043T>C (p.Ala1681=)
c.4938T>C (p.Ala1646=)
c.4929T>C (p.Ala1643=)
c.4890T>C (p.Ala1630=)
c.4836T>C (p.Ala1612=)
c.4740T>C (p.Ala1580=)
c.4710T>C (p.Ala1570=)
c.4635T>C (p.Ala1545=)
c.4533T>C (p.Ala1511=)
c.4164T>C (p.Ala1388=)
 ClinVar
5g.112840607T>GCA446208760APCc.5067T>G (p.Ala1689=)
c.*5019T>G (n.*5019T>G)
c.4959T>G (p.Ala1653=)
c.5013T>G (p.Ala1671=)
c.*4335T>G (n.*4335T>G)
c.230+11635T>G
c.5043T>G (p.Ala1681=)
c.4938T>G (p.Ala1646=)
c.4929T>G (p.Ala1643=)
c.4890T>G (p.Ala1630=)
c.4836T>G (p.Ala1612=)
c.4740T>G (p.Ala1580=)
c.4710T>G (p.Ala1570=)
c.4635T>G (p.Ala1545=)
c.4533T>G (p.Ala1511=)
c.4164T>G (p.Ala1388=)
 ClinVar
5g.112840608G>ACA16032301APCc.5068G>A (p.Gly1690Arg)
c.*5020G>A (n.*5020G>A)
c.4960G>A (p.Gly1654Arg)
c.5014G>A (p.Gly1672Arg)
c.*4336G>A (n.*4336G>A)
c.230+11636G>A
c.5044G>A (p.Gly1682Arg)
c.4939G>A (p.Gly1647Arg)
c.4930G>A (p.Gly1644Arg)
c.4891G>A (p.Gly1631Arg)
c.4837G>A (p.Gly1613Arg)
c.4741G>A (p.Gly1581Arg)
c.4711G>A (p.Gly1571Arg)
c.4636G>A (p.Gly1546Arg)
c.4534G>A (p.Gly1512Arg)
c.4165G>A (p.Gly1389Arg)
 ClinVar dbSNP
5g.112840608G>CCA16032302APCc.5068G>C (p.Gly1690Arg)
c.*5020G>C (n.*5020G>C)
c.4960G>C (p.Gly1654Arg)
c.5014G>C (p.Gly1672Arg)
c.*4336G>C (n.*4336G>C)
c.230+11636G>C
c.5044G>C (p.Gly1682Arg)
c.4939G>C (p.Gly1647Arg)
c.4930G>C (p.Gly1644Arg)
c.4891G>C (p.Gly1631Arg)
c.4837G>C (p.Gly1613Arg)
c.4741G>C (p.Gly1581Arg)
c.4711G>C (p.Gly1571Arg)
c.4636G>C (p.Gly1546Arg)
c.4534G>C (p.Gly1512Arg)
c.4165G>C (p.Gly1389Arg)
5g.112840608G>TCA16032303APCc.5068G>T (p.Gly1690Ter)
c.*5020G>T (n.*5020G>T)
c.4960G>T (p.Gly1654Ter)
c.5014G>T (p.Gly1672Ter)
c.*4336G>T (n.*4336G>T)
c.230+11636G>T
c.5044G>T (p.Gly1682Ter)
c.4939G>T (p.Gly1647Ter)
c.4930G>T (p.Gly1644Ter)
c.4891G>T (p.Gly1631Ter)
c.4837G>T (p.Gly1613Ter)
c.4741G>T (p.Gly1581Ter)
c.4711G>T (p.Gly1571Ter)
c.4636G>T (p.Gly1546Ter)
c.4534G>T (p.Gly1512Ter)
c.4165G>T (p.Gly1389Ter)
 dbSNP
5g.112840609G>ACA16032304APCc.5069G>A (p.Gly1690Glu)
c.*5021G>A (n.*5021G>A)
c.4961G>A (p.Gly1654Glu)
c.5015G>A (p.Gly1672Glu)
c.*4337G>A (n.*4337G>A)
c.230+11637G>A
c.5045G>A (p.Gly1682Glu)
c.4940G>A (p.Gly1647Glu)
c.4931G>A (p.Gly1644Glu)
c.4892G>A (p.Gly1631Glu)
c.4838G>A (p.Gly1613Glu)
c.4742G>A (p.Gly1581Glu)
c.4712G>A (p.Gly1571Glu)
c.4637G>A (p.Gly1546Glu)
c.4535G>A (p.Gly1512Glu)
c.4166G>A (p.Gly1389Glu)
 gnomAD v4
5g.112840609G>CCA16032305APCc.5069G>C (p.Gly1690Ala)
c.*5021G>C (n.*5021G>C)
c.4961G>C (p.Gly1654Ala)
c.5015G>C (p.Gly1672Ala)
c.*4337G>C (n.*4337G>C)
c.230+11637G>C
c.5045G>C (p.Gly1682Ala)
c.4940G>C (p.Gly1647Ala)
c.4931G>C (p.Gly1644Ala)
c.4892G>C (p.Gly1631Ala)
c.4838G>C (p.Gly1613Ala)
c.4742G>C (p.Gly1581Ala)
c.4712G>C (p.Gly1571Ala)
c.4637G>C (p.Gly1546Ala)
c.4535G>C (p.Gly1512Ala)
c.4166G>C (p.Gly1389Ala)
5g.112840609G>TCA16032306APCc.5069G>T (p.Gly1690Val)
c.*5021G>T (n.*5021G>T)
c.4961G>T (p.Gly1654Val)
c.5015G>T (p.Gly1672Val)
c.*4337G>T (n.*4337G>T)
c.230+11637G>T
c.5045G>T (p.Gly1682Val)
c.4940G>T (p.Gly1647Val)
c.4931G>T (p.Gly1644Val)
c.4892G>T (p.Gly1631Val)
c.4838G>T (p.Gly1613Val)
c.4742G>T (p.Gly1581Val)
c.4712G>T (p.Gly1571Val)
c.4637G>T (p.Gly1546Val)
c.4535G>T (p.Gly1512Val)
c.4166G>T (p.Gly1389Val)
5g.112840610A>CCA446208761APCc.5070A>C (p.Gly1690=)
c.*5022A>C (n.*5022A>C)
c.4962A>C (p.Gly1654=)
c.5016A>C (p.Gly1672=)
c.*4338A>C (n.*4338A>C)
c.230+11638A>C
c.5046A>C (p.Gly1682=)
c.4941A>C (p.Gly1647=)
c.4932A>C (p.Gly1644=)
c.4893A>C (p.Gly1631=)
c.4839A>C (p.Gly1613=)
c.4743A>C (p.Gly1581=)
c.4713A>C (p.Gly1571=)
c.4638A>C (p.Gly1546=)
c.4536A>C (p.Gly1512=)
c.4167A>C (p.Gly1389=)
5g.112840610A>GCA446208762APCc.5070A>G (p.Gly1690=)
c.*5022A>G (n.*5022A>G)
c.4962A>G (p.Gly1654=)
c.5016A>G (p.Gly1672=)
c.*4338A>G (n.*4338A>G)
c.230+11638A>G
c.5046A>G (p.Gly1682=)
c.4941A>G (p.Gly1647=)
c.4932A>G (p.Gly1644=)
c.4893A>G (p.Gly1631=)
c.4839A>G (p.Gly1613=)
c.4743A>G (p.Gly1581=)
c.4713A>G (p.Gly1571=)
c.4638A>G (p.Gly1546=)
c.4536A>G (p.Gly1512=)
c.4167A>G (p.Gly1389=)
 dbSNP
5g.112840610A>TCA446208763APCc.5070A>T (p.Gly1690=)
c.*5022A>T (n.*5022A>T)
c.4962A>T (p.Gly1654=)
c.5016A>T (p.Gly1672=)
c.*4338A>T (n.*4338A>T)
c.230+11638A>T
c.5046A>T (p.Gly1682=)
c.4941A>T (p.Gly1647=)
c.4932A>T (p.Gly1644=)
c.4893A>T (p.Gly1631=)
c.4839A>T (p.Gly1613=)
c.4743A>T (p.Gly1581=)
c.4713A>T (p.Gly1571=)
c.4638A>T (p.Gly1546=)
c.4536A>T (p.Gly1512=)
c.4167A>T (p.Gly1389=)
 ClinVar dbSNP
5g.112840612_112840614delCA2674856040APCc.5072_5074del (p.Glu1691del)
c.*5024_*5026del (n.*5024_*5026del)
c.4964_4966del (p.Glu1655del)
c.5018_5020del (p.Glu1673del)
c.*4340_*4342del (n.*4340_*4342del)
c.230+11640_230+11642del
c.5048_5050del (p.Glu1683del)
c.4943_4945del (p.Glu1648del)
c.4934_4936del (p.Glu1645del)
c.4895_4897del (p.Glu1632del)
c.4841_4843del (p.Glu1614del)
c.4745_4747del (p.Glu1582del)
c.4715_4717del (p.Glu1572del)
c.4640_4642del (p.Glu1547del)
c.4538_4540del (p.Glu1513del)
c.4169_4171del (p.Glu1390del)
 gnomAD v4
5g.112840611G>ACA009832APCc.5071G>A (p.Glu1691Lys)
c.*5023G>A (n.*5023G>A)
c.4963G>A (p.Glu1655Lys)
c.5017G>A (p.Glu1673Lys)
c.*4339G>A (n.*4339G>A)
c.230+11639G>A
c.5047G>A (p.Glu1683Lys)
c.4942G>A (p.Glu1648Lys)
c.4933G>A (p.Glu1645Lys)
c.4894G>A (p.Glu1632Lys)
c.4840G>A (p.Glu1614Lys)
c.4744G>A (p.Glu1582Lys)
c.4714G>A (p.Glu1572Lys)
c.4639G>A (p.Glu1547Lys)
c.4537G>A (p.Glu1513Lys)
c.4168G>A (p.Glu1390Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840611G>CCA16032307APCc.5071G>C (p.Glu1691Gln)
c.*5023G>C (n.*5023G>C)
c.4963G>C (p.Glu1655Gln)
c.5017G>C (p.Glu1673Gln)
c.*4339G>C (n.*4339G>C)
c.230+11639G>C
c.5047G>C (p.Glu1683Gln)
c.4942G>C (p.Glu1648Gln)
c.4933G>C (p.Glu1645Gln)
c.4894G>C (p.Glu1632Gln)
c.4840G>C (p.Glu1614Gln)
c.4744G>C (p.Glu1582Gln)
c.4714G>C (p.Glu1572Gln)
c.4639G>C (p.Glu1547Gln)
c.4537G>C (p.Glu1513Gln)
c.4168G>C (p.Glu1390Gln)
5g.112840611G=CA1573473071APCc.5071G= (p.Glu1691=)
c.*5023G= (n.*5023G=)
c.4963G= (p.Glu1655=)
c.5017G= (p.Glu1673=)
c.*4339G= (n.*4339G=)
c.230+11639G=
c.5047G= (p.Glu1683=)
c.4942G= (p.Glu1648=)
c.4933G= (p.Glu1645=)
c.4894G= (p.Glu1632=)
c.4840G= (p.Glu1614=)
c.4744G= (p.Glu1582=)
c.4714G= (p.Glu1572=)
c.4639G= (p.Glu1547=)
c.4537G= (p.Glu1513=)
c.4168G= (p.Glu1390=)
5g.112840611G>TCA16032308APCc.5071G>T (p.Glu1691Ter)
c.*5023G>T (n.*5023G>T)
c.4963G>T (p.Glu1655Ter)
c.5017G>T (p.Glu1673Ter)
c.*4339G>T (n.*4339G>T)
c.230+11639G>T
c.5047G>T (p.Glu1683Ter)
c.4942G>T (p.Glu1648Ter)
c.4933G>T (p.Glu1645Ter)
c.4894G>T (p.Glu1632Ter)
c.4840G>T (p.Glu1614Ter)
c.4744G>T (p.Glu1582Ter)
c.4714G>T (p.Glu1572Ter)
c.4639G>T (p.Glu1547Ter)
c.4537G>T (p.Glu1513Ter)
c.4168G>T (p.Glu1390Ter)
 ClinVar dbSNP
5g.112840612A=CA1573473089APCc.5072A= (p.Glu1691=)
c.*5024A= (n.*5024A=)
c.4964A= (p.Glu1655=)
c.5018A= (p.Glu1673=)
c.*4340A= (n.*4340A=)
c.230+11640A=
c.5048A= (p.Glu1683=)
c.4943A= (p.Glu1648=)
c.4934A= (p.Glu1645=)
c.4895A= (p.Glu1632=)
c.4841A= (p.Glu1614=)
c.4745A= (p.Glu1582=)
c.4715A= (p.Glu1572=)
c.4640A= (p.Glu1547=)
c.4538A= (p.Glu1513=)
c.4169A= (p.Glu1390=)
5g.112840612A>CCA16032309APCc.5072A>C (p.Glu1691Ala)
c.*5024A>C (n.*5024A>C)
c.4964A>C (p.Glu1655Ala)
c.5018A>C (p.Glu1673Ala)
c.*4340A>C (n.*4340A>C)
c.230+11640A>C
c.5048A>C (p.Glu1683Ala)
c.4943A>C (p.Glu1648Ala)
c.4934A>C (p.Glu1645Ala)
c.4895A>C (p.Glu1632Ala)
c.4841A>C (p.Glu1614Ala)
c.4745A>C (p.Glu1582Ala)
c.4715A>C (p.Glu1572Ala)
c.4640A>C (p.Glu1547Ala)
c.4538A>C (p.Glu1513Ala)
c.4169A>C (p.Glu1390Ala)
5g.112840612A>GCA16032310APCc.5072A>G (p.Glu1691Gly)
c.*5024A>G (n.*5024A>G)
c.4964A>G (p.Glu1655Gly)
c.5018A>G (p.Glu1673Gly)
c.*4340A>G (n.*4340A>G)
c.230+11640A>G
c.5048A>G (p.Glu1683Gly)
c.4943A>G (p.Glu1648Gly)
c.4934A>G (p.Glu1645Gly)
c.4895A>G (p.Glu1632Gly)
c.4841A>G (p.Glu1614Gly)
c.4745A>G (p.Glu1582Gly)
c.4715A>G (p.Glu1572Gly)
c.4640A>G (p.Glu1547Gly)
c.4538A>G (p.Glu1513Gly)
c.4169A>G (p.Glu1390Gly)
 ClinVar dbSNP gnomAD v4
5g.112840612A>TCA16032311APCc.5072A>T (p.Glu1691Val)
c.*5024A>T (n.*5024A>T)
c.4964A>T (p.Glu1655Val)
c.5018A>T (p.Glu1673Val)
c.*4340A>T (n.*4340A>T)
c.230+11640A>T
c.5048A>T (p.Glu1683Val)
c.4943A>T (p.Glu1648Val)
c.4934A>T (p.Glu1645Val)
c.4895A>T (p.Glu1632Val)
c.4841A>T (p.Glu1614Val)
c.4745A>T (p.Glu1582Val)
c.4715A>T (p.Glu1572Val)
c.4640A>T (p.Glu1547Val)
c.4538A>T (p.Glu1513Val)
c.4169A>T (p.Glu1390Val)
 dbSNP
5g.112840613A=CA1573473098APCc.5073A= (p.Glu1691=)
c.*5025A= (n.*5025A=)
c.4965A= (p.Glu1655=)
c.5019A= (p.Glu1673=)
c.*4341A= (n.*4341A=)
c.230+11641A=
c.5049A= (p.Glu1683=)
c.4944A= (p.Glu1648=)
c.4935A= (p.Glu1645=)
c.4896A= (p.Glu1632=)
c.4842A= (p.Glu1614=)
c.4746A= (p.Glu1582=)
c.4716A= (p.Glu1572=)
c.4641A= (p.Glu1547=)
c.4539A= (p.Glu1513=)
c.4170A= (p.Glu1390=)
5g.112840613A>CCA16032312APCc.5073A>C (p.Glu1691Asp)
c.*5025A>C (n.*5025A>C)
c.4965A>C (p.Glu1655Asp)
c.5019A>C (p.Glu1673Asp)
c.*4341A>C (n.*4341A>C)
c.230+11641A>C
c.5049A>C (p.Glu1683Asp)
c.4944A>C (p.Glu1648Asp)
c.4935A>C (p.Glu1645Asp)
c.4896A>C (p.Glu1632Asp)
c.4842A>C (p.Glu1614Asp)
c.4746A>C (p.Glu1582Asp)
c.4716A>C (p.Glu1572Asp)
c.4641A>C (p.Glu1547Asp)
c.4539A>C (p.Glu1513Asp)
c.4170A>C (p.Glu1390Asp)
5g.112840613A>GCA446208764APCc.5073A>G (p.Glu1691=)
c.*5025A>G (n.*5025A>G)
c.4965A>G (p.Glu1655=)
c.5019A>G (p.Glu1673=)
c.*4341A>G (n.*4341A>G)
c.230+11641A>G
c.5049A>G (p.Glu1683=)
c.4944A>G (p.Glu1648=)
c.4935A>G (p.Glu1645=)
c.4896A>G (p.Glu1632=)
c.4842A>G (p.Glu1614=)
c.4746A>G (p.Glu1582=)
c.4716A>G (p.Glu1572=)
c.4641A>G (p.Glu1547=)
c.4539A>G (p.Glu1513=)
c.4170A>G (p.Glu1390=)
 ClinVar dbSNP
5g.112840613A>TCA16032313APCc.5073A>T (p.Glu1691Asp)
c.*5025A>T (n.*5025A>T)
c.4965A>T (p.Glu1655Asp)
c.5019A>T (p.Glu1673Asp)
c.*4341A>T (n.*4341A>T)
c.230+11641A>T
c.5049A>T (p.Glu1683Asp)
c.4944A>T (p.Glu1648Asp)
c.4935A>T (p.Glu1645Asp)
c.4896A>T (p.Glu1632Asp)
c.4842A>T (p.Glu1614Asp)
c.4746A>T (p.Glu1582Asp)
c.4716A>T (p.Glu1572Asp)
c.4641A>T (p.Glu1547Asp)
c.4539A>T (p.Glu1513Asp)
c.4170A>T (p.Glu1390Asp)
5g.112840614G>ACA16032314APCc.5074G>A (p.Gly1692Arg)
c.*5026G>A (n.*5026G>A)
c.4966G>A (p.Gly1656Arg)
c.5020G>A (p.Gly1674Arg)
c.*4342G>A (n.*4342G>A)
c.230+11642G>A
c.5050G>A (p.Gly1684Arg)
c.4945G>A (p.Gly1649Arg)
c.4936G>A (p.Gly1646Arg)
c.4897G>A (p.Gly1633Arg)
c.4843G>A (p.Gly1615Arg)
c.4747G>A (p.Gly1583Arg)
c.4717G>A (p.Gly1573Arg)
c.4642G>A (p.Gly1548Arg)
c.4540G>A (p.Gly1514Arg)
c.4171G>A (p.Gly1391Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840614G>CCA16032315APCc.5074G>C (p.Gly1692Arg)
c.*5026G>C (n.*5026G>C)
c.4966G>C (p.Gly1656Arg)
c.5020G>C (p.Gly1674Arg)
c.*4342G>C (n.*4342G>C)
c.230+11642G>C
c.5050G>C (p.Gly1684Arg)
c.4945G>C (p.Gly1649Arg)
c.4936G>C (p.Gly1646Arg)
c.4897G>C (p.Gly1633Arg)
c.4843G>C (p.Gly1615Arg)
c.4747G>C (p.Gly1583Arg)
c.4717G>C (p.Gly1573Arg)
c.4642G>C (p.Gly1548Arg)
c.4540G>C (p.Gly1514Arg)
c.4171G>C (p.Gly1391Arg)
 ClinVar dbSNP
5g.112840614G=CA1573473107APCc.5074G= (p.Gly1692=)
c.*5026G= (n.*5026G=)
c.4966G= (p.Gly1656=)
c.5020G= (p.Gly1674=)
c.*4342G= (n.*4342G=)
c.230+11642G=
c.5050G= (p.Gly1684=)
c.4945G= (p.Gly1649=)
c.4936G= (p.Gly1646=)
c.4897G= (p.Gly1633=)
c.4843G= (p.Gly1615=)
c.4747G= (p.Gly1583=)
c.4717G= (p.Gly1573=)
c.4642G= (p.Gly1548=)
c.4540G= (p.Gly1514=)
c.4171G= (p.Gly1391=)
5g.112840614G>TCA16032316APCc.5074G>T (p.Gly1692Ter)
c.*5026G>T (n.*5026G>T)
c.4966G>T (p.Gly1656Ter)
c.5020G>T (p.Gly1674Ter)
c.*4342G>T (n.*4342G>T)
c.230+11642G>T
c.5050G>T (p.Gly1684Ter)
c.4945G>T (p.Gly1649Ter)
c.4936G>T (p.Gly1646Ter)
c.4897G>T (p.Gly1633Ter)
c.4843G>T (p.Gly1615Ter)
c.4747G>T (p.Gly1583Ter)
c.4717G>T (p.Gly1573Ter)
c.4642G>T (p.Gly1548Ter)
c.4540G>T (p.Gly1514Ter)
c.4171G>T (p.Gly1391Ter)
 ClinVar dbSNP
5g.112840615dupCA2578379930APCc.5075dup (p.Val1693SerfsTer2)
c.*5027dup (n.*5027dup)
c.4967dup (p.Val1657SerfsTer2)
c.5021dup (p.Val1675SerfsTer2)
c.*4343dup (n.*4343dup)
c.230+11643dup
c.5051dup (p.Val1685SerfsTer2)
c.4946dup (p.Val1650SerfsTer2)
c.4937dup (p.Val1647SerfsTer2)
c.4898dup (p.Val1634SerfsTer2)
c.4844dup (p.Val1616SerfsTer2)
c.4748dup (p.Val1584SerfsTer2)
c.4718dup (p.Val1574SerfsTer2)
c.4643dup (p.Val1549SerfsTer2)
c.4541dup (p.Val1515SerfsTer2)
c.4172dup (p.Val1392SerfsTer2)
5g.112840615G>ACA16032317APCc.5075G>A (p.Gly1692Glu)
c.*5027G>A (n.*5027G>A)
c.4967G>A (p.Gly1656Glu)
c.5021G>A (p.Gly1674Glu)
c.*4343G>A (n.*4343G>A)
c.230+11643G>A
c.5051G>A (p.Gly1684Glu)
c.4946G>A (p.Gly1649Glu)
c.4937G>A (p.Gly1646Glu)
c.4898G>A (p.Gly1633Glu)
c.4844G>A (p.Gly1615Glu)
c.4748G>A (p.Gly1583Glu)
c.4718G>A (p.Gly1573Glu)
c.4643G>A (p.Gly1548Glu)
c.4541G>A (p.Gly1514Glu)
c.4172G>A (p.Gly1391Glu)
 ClinVar dbSNP
5g.112840615G>CCA16032318APCc.5075G>C (p.Gly1692Ala)
c.*5027G>C (n.*5027G>C)
c.4967G>C (p.Gly1656Ala)
c.5021G>C (p.Gly1674Ala)
c.*4343G>C (n.*4343G>C)
c.230+11643G>C
c.5051G>C (p.Gly1684Ala)
c.4946G>C (p.Gly1649Ala)
c.4937G>C (p.Gly1646Ala)
c.4898G>C (p.Gly1633Ala)
c.4844G>C (p.Gly1615Ala)
c.4748G>C (p.Gly1583Ala)
c.4718G>C (p.Gly1573Ala)
c.4643G>C (p.Gly1548Ala)
c.4541G>C (p.Gly1514Ala)
c.4172G>C (p.Gly1391Ala)
 ClinVar dbSNP
5g.112840615G=CA1573473114APCc.5075G= (p.Gly1692=)
c.*5027G= (n.*5027G=)
c.4967G= (p.Gly1656=)
c.5021G= (p.Gly1674=)
c.*4343G= (n.*4343G=)
c.230+11643G=
c.5051G= (p.Gly1684=)
c.4946G= (p.Gly1649=)
c.4937G= (p.Gly1646=)
c.4898G= (p.Gly1633=)
c.4844G= (p.Gly1615=)
c.4748G= (p.Gly1583=)
c.4718G= (p.Gly1573=)
c.4643G= (p.Gly1548=)
c.4541G= (p.Gly1514=)
c.4172G= (p.Gly1391=)
5g.112840615G>TCA16032319APCc.5075G>T (p.Gly1692Val)
c.*5027G>T (n.*5027G>T)
c.4967G>T (p.Gly1656Val)
c.5021G>T (p.Gly1674Val)
c.*4343G>T (n.*4343G>T)
c.230+11643G>T
c.5051G>T (p.Gly1684Val)
c.4946G>T (p.Gly1649Val)
c.4937G>T (p.Gly1646Val)
c.4898G>T (p.Gly1633Val)
c.4844G>T (p.Gly1615Val)
c.4748G>T (p.Gly1583Val)
c.4718G>T (p.Gly1573Val)
c.4643G>T (p.Gly1548Val)
c.4541G>T (p.Gly1514Val)
c.4172G>T (p.Gly1391Val)
 dbSNP
5g.112840616A=CA1573473121APCc.5076A= (p.Gly1692=)
c.*5028A= (n.*5028A=)
c.4968A= (p.Gly1656=)
c.5022A= (p.Gly1674=)
c.*4344A= (n.*4344A=)
c.230+11644A=
c.5052A= (p.Gly1684=)
c.4947A= (p.Gly1649=)
c.4938A= (p.Gly1646=)
c.4899A= (p.Gly1633=)
c.4845A= (p.Gly1615=)
c.4749A= (p.Gly1583=)
c.4719A= (p.Gly1573=)
c.4644A= (p.Gly1548=)
c.4542A= (p.Gly1514=)
c.4173A= (p.Gly1391=)
5g.112840616A>CCA446208765APCc.5076A>C (p.Gly1692=)
c.*5028A>C (n.*5028A>C)
c.4968A>C (p.Gly1656=)
c.5022A>C (p.Gly1674=)
c.*4344A>C (n.*4344A>C)
c.230+11644A>C
c.5052A>C (p.Gly1684=)
c.4947A>C (p.Gly1649=)
c.4938A>C (p.Gly1646=)
c.4899A>C (p.Gly1633=)
c.4845A>C (p.Gly1615=)
c.4749A>C (p.Gly1583=)
c.4719A>C (p.Gly1573=)
c.4644A>C (p.Gly1548=)
c.4542A>C (p.Gly1514=)
c.4173A>C (p.Gly1391=)
 ClinVar dbSNP gnomAD v4
5g.112840616A>GCA446208766APCc.5076A>G (p.Gly1692=)
c.*5028A>G (n.*5028A>G)
c.4968A>G (p.Gly1656=)
c.5022A>G (p.Gly1674=)
c.*4344A>G (n.*4344A>G)
c.230+11644A>G
c.5052A>G (p.Gly1684=)
c.4947A>G (p.Gly1649=)
c.4938A>G (p.Gly1646=)
c.4899A>G (p.Gly1633=)
c.4845A>G (p.Gly1615=)
c.4749A>G (p.Gly1583=)
c.4719A>G (p.Gly1573=)
c.4644A>G (p.Gly1548=)
c.4542A>G (p.Gly1514=)
c.4173A>G (p.Gly1391=)
 ClinVar dbSNP
5g.112840616A>TCA446208767APCc.5076A>T (p.Gly1692=)
c.*5028A>T (n.*5028A>T)
c.4968A>T (p.Gly1656=)
c.5022A>T (p.Gly1674=)
c.*4344A>T (n.*4344A>T)
c.230+11644A>T
c.5052A>T (p.Gly1684=)
c.4947A>T (p.Gly1649=)
c.4938A>T (p.Gly1646=)
c.4899A>T (p.Gly1633=)
c.4845A>T (p.Gly1615=)
c.4749A>T (p.Gly1583=)
c.4719A>T (p.Gly1573=)
c.4644A>T (p.Gly1548=)
c.4542A>T (p.Gly1514=)
c.4173A>T (p.Gly1391=)
5g.112840617G>ACA16032320APCc.5077G>A (p.Val1693Ile)
c.*5029G>A (n.*5029G>A)
c.4969G>A (p.Val1657Ile)
c.5023G>A (p.Val1675Ile)
c.*4345G>A (n.*4345G>A)
c.230+11645G>A
c.5053G>A (p.Val1685Ile)
c.4948G>A (p.Val1650Ile)
c.4939G>A (p.Val1647Ile)
c.4900G>A (p.Val1634Ile)
c.4846G>A (p.Val1616Ile)
c.4750G>A (p.Val1584Ile)
c.4720G>A (p.Val1574Ile)
c.4645G>A (p.Val1549Ile)
c.4543G>A (p.Val1515Ile)
c.4174G>A (p.Val1392Ile)
 gnomAD v4
5g.112840617G>CCA16032321APCc.5077G>C (p.Val1693Leu)
c.*5029G>C (n.*5029G>C)
c.4969G>C (p.Val1657Leu)
c.5023G>C (p.Val1675Leu)
c.*4345G>C (n.*4345G>C)
c.230+11645G>C
c.5053G>C (p.Val1685Leu)
c.4948G>C (p.Val1650Leu)
c.4939G>C (p.Val1647Leu)
c.4900G>C (p.Val1634Leu)
c.4846G>C (p.Val1616Leu)
c.4750G>C (p.Val1584Leu)
c.4720G>C (p.Val1574Leu)
c.4645G>C (p.Val1549Leu)
c.4543G>C (p.Val1515Leu)
c.4174G>C (p.Val1392Leu)
5g.112840617G=CA1573473134APCc.5077G= (p.Val1693=)
c.*5029G= (n.*5029G=)
c.4969G= (p.Val1657=)
c.5023G= (p.Val1675=)
c.*4345G= (n.*4345G=)
c.230+11645G=
c.5053G= (p.Val1685=)
c.4948G= (p.Val1650=)
c.4939G= (p.Val1647=)
c.4900G= (p.Val1634=)
c.4846G= (p.Val1616=)
c.4750G= (p.Val1584=)
c.4720G= (p.Val1574=)
c.4645G= (p.Val1549=)
c.4543G= (p.Val1515=)
c.4174G= (p.Val1392=)
5g.112840617G>TCA16032322APCc.5077G>T (p.Val1693Phe)
c.*5029G>T (n.*5029G>T)
c.4969G>T (p.Val1657Phe)
c.5023G>T (p.Val1675Phe)
c.*4345G>T (n.*4345G>T)
c.230+11645G>T
c.5053G>T (p.Val1685Phe)
c.4948G>T (p.Val1650Phe)
c.4939G>T (p.Val1647Phe)
c.4900G>T (p.Val1634Phe)
c.4846G>T (p.Val1616Phe)
c.4750G>T (p.Val1584Phe)
c.4720G>T (p.Val1574Phe)
c.4645G>T (p.Val1549Phe)
c.4543G>T (p.Val1515Phe)
c.4174G>T (p.Val1392Phe)
5g.112840618T>ACA16032323APCc.5078T>A (p.Val1693Asp)
c.*5030T>A (n.*5030T>A)
c.4970T>A (p.Val1657Asp)
c.5024T>A (p.Val1675Asp)
c.*4346T>A (n.*4346T>A)
c.230+11646T>A
c.5054T>A (p.Val1685Asp)
c.4949T>A (p.Val1650Asp)
c.4940T>A (p.Val1647Asp)
c.4901T>A (p.Val1634Asp)
c.4847T>A (p.Val1616Asp)
c.4751T>A (p.Val1584Asp)
c.4721T>A (p.Val1574Asp)
c.4646T>A (p.Val1549Asp)
c.4544T>A (p.Val1515Asp)
c.4175T>A (p.Val1392Asp)
 dbSNP
5g.112840618T>CCA16032324APCc.5078T>C (p.Val1693Ala)
c.*5030T>C (n.*5030T>C)
c.4970T>C (p.Val1657Ala)
c.5024T>C (p.Val1675Ala)
c.*4346T>C (n.*4346T>C)
c.230+11646T>C
c.5054T>C (p.Val1685Ala)
c.4949T>C (p.Val1650Ala)
c.4940T>C (p.Val1647Ala)
c.4901T>C (p.Val1634Ala)
c.4847T>C (p.Val1616Ala)
c.4751T>C (p.Val1584Ala)
c.4721T>C (p.Val1574Ala)
c.4646T>C (p.Val1549Ala)
c.4544T>C (p.Val1515Ala)
c.4175T>C (p.Val1392Ala)
 dbSNP
5g.112840618T>GCA16032325APCc.5078T>G (p.Val1693Gly)
c.*5030T>G (n.*5030T>G)
c.4970T>G (p.Val1657Gly)
c.5024T>G (p.Val1675Gly)
c.*4346T>G (n.*4346T>G)
c.230+11646T>G
c.5054T>G (p.Val1685Gly)
c.4949T>G (p.Val1650Gly)
c.4940T>G (p.Val1647Gly)
c.4901T>G (p.Val1634Gly)
c.4847T>G (p.Val1616Gly)
c.4751T>G (p.Val1584Gly)
c.4721T>G (p.Val1574Gly)
c.4646T>G (p.Val1549Gly)
c.4544T>G (p.Val1515Gly)
c.4175T>G (p.Val1392Gly)
 ClinVar dbSNP gnomAD v4
5g.112840619dupCA10582322APCc.5079dup (p.Arg1694Ter)
c.*5031dup (n.*5031dup)
c.4971dup (p.Arg1658Ter)
c.5025dup (p.Arg1676Ter)
c.*4347dup (n.*4347dup)
c.230+11647dup
c.5055dup (p.Arg1686Ter)
c.4950dup (p.Arg1651Ter)
c.4941dup (p.Arg1648Ter)
c.4902dup (p.Arg1635Ter)
c.4848dup (p.Arg1617Ter)
c.4752dup (p.Arg1585Ter)
c.4722dup (p.Arg1575Ter)
c.4647dup (p.Arg1550Ter)
c.4545dup (p.Arg1516Ter)
c.4176dup (p.Arg1393Ter)
 ClinVar dbSNP
5g.112840619T>ACA446208768APCc.5079T>A (p.Val1693=)
c.*5031T>A (n.*5031T>A)
c.4971T>A (p.Val1657=)
c.5025T>A (p.Val1675=)
c.*4347T>A (n.*4347T>A)
c.230+11647T>A
c.5055T>A (p.Val1685=)
c.4950T>A (p.Val1650=)
c.4941T>A (p.Val1647=)
c.4902T>A (p.Val1634=)
c.4848T>A (p.Val1616=)
c.4752T>A (p.Val1584=)
c.4722T>A (p.Val1574=)
c.4647T>A (p.Val1549=)
c.4545T>A (p.Val1515=)
c.4176T>A (p.Val1392=)
 dbSNP
5g.112840619T>CCA446208769APCc.5079T>C (p.Val1693=)
c.*5031T>C (n.*5031T>C)
c.4971T>C (p.Val1657=)
c.5025T>C (p.Val1675=)
c.*4347T>C (n.*4347T>C)
c.230+11647T>C
c.5055T>C (p.Val1685=)
c.4950T>C (p.Val1650=)
c.4941T>C (p.Val1647=)
c.4902T>C (p.Val1634=)
c.4848T>C (p.Val1616=)
c.4752T>C (p.Val1584=)
c.4722T>C (p.Val1574=)
c.4647T>C (p.Val1549=)
c.4545T>C (p.Val1515=)
c.4176T>C (p.Val1392=)
 ClinVar dbSNP
5g.112840619T>GCA3368169APCc.5079T>G (p.Val1693=)
c.*5031T>G (n.*5031T>G)
c.4971T>G (p.Val1657=)
c.5025T>G (p.Val1675=)
c.*4347T>G (n.*4347T>G)
c.230+11647T>G
c.5055T>G (p.Val1685=)
c.4950T>G (p.Val1650=)
c.4941T>G (p.Val1647=)
c.4902T>G (p.Val1634=)
c.4848T>G (p.Val1616=)
c.4752T>G (p.Val1584=)
c.4722T>G (p.Val1574=)
c.4647T>G (p.Val1549=)
c.4545T>G (p.Val1515=)
c.4176T>G (p.Val1392=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840619T=CA1573473156APCc.5079T= (p.Val1693=)
c.*5031T= (n.*5031T=)
c.4971T= (p.Val1657=)
c.5025T= (p.Val1675=)
c.*4347T= (n.*4347T=)
c.230+11647T=
c.5055T= (p.Val1685=)
c.4950T= (p.Val1650=)
c.4941T= (p.Val1647=)
c.4902T= (p.Val1634=)
c.4848T= (p.Val1616=)
c.4752T= (p.Val1584=)
c.4722T= (p.Val1574=)
c.4647T= (p.Val1549=)
c.4545T= (p.Val1515=)
c.4176T= (p.Val1392=)
5g.112840619_112840622delinsTAGACA1573473163APCc.5079_5082delinsTAGA (p.Val1693=)
c.*5031_*5034delinsTAGA (n.*5031_*5034delinsTAGA)
c.4971_4974delinsTAGA (p.Val1657=)
c.5025_5028delinsTAGA (p.Val1675=)
c.*4347_*4350delinsTAGA (n.*4347_*4350delinsTAGA)
c.230+11647_230+11650delinsTAGA
c.5055_5058delinsTAGA (p.Val1685=)
c.4950_4953delinsTAGA (p.Val1650=)
c.4941_4944delinsTAGA (p.Val1647=)
c.4902_4905delinsTAGA (p.Val1634=)
c.4848_4851delinsTAGA (p.Val1616=)
c.4752_4755delinsTAGA (p.Val1584=)
c.4722_4725delinsTAGA (p.Val1574=)
c.4647_4650delinsTAGA (p.Val1549=)
c.4545_4548delinsTAGA (p.Val1515=)
c.4176_4179delinsTAGA (p.Val1392=)
5g.112840620A=CA1573473204APCc.5080A= (p.Arg1694=)
c.*5032A= (n.*5032A=)
c.4972A= (p.Arg1658=)
c.5026A= (p.Arg1676=)
c.*4348A= (n.*4348A=)
c.230+11648A=
c.5056A= (p.Arg1686=)
c.4951A= (p.Arg1651=)
c.4942A= (p.Arg1648=)
c.4903A= (p.Arg1635=)
c.4849A= (p.Arg1617=)
c.4753A= (p.Arg1585=)
c.4723A= (p.Arg1575=)
c.4648A= (p.Arg1550=)
c.4546A= (p.Arg1516=)
c.4177A= (p.Arg1393=)
5g.112840620A>CCA446208770APCc.5080A>C (p.Arg1694=)
c.*5032A>C (n.*5032A>C)
c.4972A>C (p.Arg1658=)
c.5026A>C (p.Arg1676=)
c.*4348A>C (n.*4348A>C)
c.230+11648A>C
c.5056A>C (p.Arg1686=)
c.4951A>C (p.Arg1651=)
c.4942A>C (p.Arg1648=)
c.4903A>C (p.Arg1635=)
c.4849A>C (p.Arg1617=)
c.4753A>C (p.Arg1585=)
c.4723A>C (p.Arg1575=)
c.4648A>C (p.Arg1550=)
c.4546A>C (p.Arg1516=)
c.4177A>C (p.Arg1393=)
5g.112840620A>GCA009838APCc.5080A>G (p.Arg1694Gly)
c.*5032A>G (n.*5032A>G)
c.4972A>G (p.Arg1658Gly)
c.5026A>G (p.Arg1676Gly)
c.*4348A>G (n.*4348A>G)
c.230+11648A>G
c.5056A>G (p.Arg1686Gly)
c.4951A>G (p.Arg1651Gly)
c.4942A>G (p.Arg1648Gly)
c.4903A>G (p.Arg1635Gly)
c.4849A>G (p.Arg1617Gly)
c.4753A>G (p.Arg1585Gly)
c.4723A>G (p.Arg1575Gly)
c.4648A>G (p.Arg1550Gly)
c.4546A>G (p.Arg1516Gly)
c.4177A>G (p.Arg1393Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.[112840620A>G;112842993C>A]CA2742038361APCc.[5080A>G;7453C>A] (p.[Arg1694Gly;Pro2485Thr])
c.[*5032A>G;*7405C>A] (n.[*5032A>G;*7405C>A])
c.[4972A>G;7345C>A] (p.[Arg1658Gly;Pro2449Thr])
c.[5026A>G;7399C>A] (p.[Arg1676Gly;Pro2467Thr])
c.[230+11648A>G;231-13656C>A]
c.[5056A>G;7429C>A] (p.[Arg1686Gly;Pro2477Thr])
c.[4951A>G;7324C>A] (p.[Arg1651Gly;Pro2442Thr])
c.[4942A>G;7315C>A] (p.[Arg1648Gly;Pro2439Thr])
c.[4903A>G;7276C>A] (p.[Arg1635Gly;Pro2426Thr])
c.[4849A>G;7222C>A] (p.[Arg1617Gly;Pro2408Thr])
c.[4753A>G;7126C>A] (p.[Arg1585Gly;Pro2376Thr])
c.[4723A>G;7096C>A] (p.[Arg1575Gly;Pro2366Thr])
c.[4648A>G;7021C>A] (p.[Arg1550Gly;Pro2341Thr])
c.[4546A>G;6919C>A] (p.[Arg1516Gly;Pro2307Thr])
c.[4177A>G;6550C>A] (p.[Arg1393Gly;Pro2184Thr])
5g.112840620A>TCA16032326APCc.5080A>T (p.Arg1694Ter)
c.*5032A>T (n.*5032A>T)
c.4972A>T (p.Arg1658Ter)
c.5026A>T (p.Arg1676Ter)
c.*4348A>T (n.*4348A>T)
c.230+11648A>T
c.5056A>T (p.Arg1686Ter)
c.4951A>T (p.Arg1651Ter)
c.4942A>T (p.Arg1648Ter)
c.4903A>T (p.Arg1635Ter)
c.4849A>T (p.Arg1617Ter)
c.4753A>T (p.Arg1585Ter)
c.4723A>T (p.Arg1575Ter)
c.4648A>T (p.Arg1550Ter)
c.4546A>T (p.Arg1516Ter)
c.4177A>T (p.Arg1393Ter)
 ClinVar dbSNP
5g.112840620_112840622delCA3368170APCc.5080_5082del (p.Arg1694del)
c.*5032_*5034del (n.*5032_*5034del)
c.4972_4974del (p.Arg1658del)
c.5026_5028del (p.Arg1676del)
c.*4348_*4350del (n.*4348_*4350del)
c.230+11648_230+11650del
c.5056_5058del (p.Arg1686del)
c.4951_4953del (p.Arg1651del)
c.4942_4944del (p.Arg1648del)
c.4903_4905del (p.Arg1635del)
c.4849_4851del (p.Arg1617del)
c.4753_4755del (p.Arg1585del)
c.4723_4725del (p.Arg1575del)
c.4648_4650del (p.Arg1550del)
c.4546_4548del (p.Arg1516del)
c.4177_4179del (p.Arg1393del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840620_112840628delinsGGAGGAGGACA2740097766APCc.5080_5088delinsGGAGGAGGA (p.Arg1694Gly)
c.*5032_*5040delinsGGAGGAGGA (n.*5032_*5040delinsGGAGGAGGA)
c.4972_4980delinsGGAGGAGGA (p.Arg1658Gly)
c.5026_5034delinsGGAGGAGGA (p.Arg1676Gly)
c.*4348_*4356delinsGGAGGAGGA (n.*4348_*4356delinsGGAGGAGGA)
c.230+11648_230+11656delinsGGAGGAGGA
c.5056_5064delinsGGAGGAGGA (p.Arg1686Gly)
c.4951_4959delinsGGAGGAGGA (p.Arg1651Gly)
c.4942_4950delinsGGAGGAGGA (p.Arg1648Gly)
c.4903_4911delinsGGAGGAGGA (p.Arg1635Gly)
c.4849_4857delinsGGAGGAGGA (p.Arg1617Gly)
c.4753_4761delinsGGAGGAGGA (p.Arg1585Gly)
c.4723_4731delinsGGAGGAGGA (p.Arg1575Gly)
c.4648_4656delinsGGAGGAGGA (p.Arg1550Gly)
c.4546_4554delinsGGAGGAGGA (p.Arg1516Gly)
c.4177_4185delinsGGAGGAGGA (p.Arg1393Gly)
5g.112840621G>ACA16032327APCc.5081G>A (p.Arg1694Lys)
c.*5033G>A (n.*5033G>A)
c.4973G>A (p.Arg1658Lys)
c.5027G>A (p.Arg1676Lys)
c.*4349G>A (n.*4349G>A)
c.230+11649G>A
c.5057G>A (p.Arg1686Lys)
c.4952G>A (p.Arg1651Lys)
c.4943G>A (p.Arg1648Lys)
c.4904G>A (p.Arg1635Lys)
c.4850G>A (p.Arg1617Lys)
c.4754G>A (p.Arg1585Lys)
c.4724G>A (p.Arg1575Lys)
c.4649G>A (p.Arg1550Lys)
c.4547G>A (p.Arg1516Lys)
c.4178G>A (p.Arg1393Lys)
 ClinVar dbSNP gnomAD v4
5g.112840621G>CCA009845APCc.5081G>C (p.Arg1694Thr)
c.*5033G>C (n.*5033G>C)
c.4973G>C (p.Arg1658Thr)
c.5027G>C (p.Arg1676Thr)
c.*4349G>C (n.*4349G>C)
c.230+11649G>C
c.5057G>C (p.Arg1686Thr)
c.4952G>C (p.Arg1651Thr)
c.4943G>C (p.Arg1648Thr)
c.4904G>C (p.Arg1635Thr)
c.4850G>C (p.Arg1617Thr)
c.4754G>C (p.Arg1585Thr)
c.4724G>C (p.Arg1575Thr)
c.4649G>C (p.Arg1550Thr)
c.4547G>C (p.Arg1516Thr)
c.4178G>C (p.Arg1393Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840621G=CA1573473220APCc.5081G= (p.Arg1694=)
c.*5033G= (n.*5033G=)
c.4973G= (p.Arg1658=)
c.5027G= (p.Arg1676=)
c.*4349G= (n.*4349G=)
c.230+11649G=
c.5057G= (p.Arg1686=)
c.4952G= (p.Arg1651=)
c.4943G= (p.Arg1648=)
c.4904G= (p.Arg1635=)
c.4850G= (p.Arg1617=)
c.4754G= (p.Arg1585=)
c.4724G= (p.Arg1575=)
c.4649G= (p.Arg1550=)
c.4547G= (p.Arg1516=)
c.4178G= (p.Arg1393=)
5g.112840621G>TCA16032328APCc.5081G>T (p.Arg1694Ile)
c.*5033G>T (n.*5033G>T)
c.4973G>T (p.Arg1658Ile)
c.5027G>T (p.Arg1676Ile)
c.*4349G>T (n.*4349G>T)
c.230+11649G>T
c.5057G>T (p.Arg1686Ile)
c.4952G>T (p.Arg1651Ile)
c.4943G>T (p.Arg1648Ile)
c.4904G>T (p.Arg1635Ile)
c.4850G>T (p.Arg1617Ile)
c.4754G>T (p.Arg1585Ile)
c.4724G>T (p.Arg1575Ile)
c.4649G>T (p.Arg1550Ile)
c.4547G>T (p.Arg1516Ile)
c.4178G>T (p.Arg1393Ile)
5g.112840622delCA2582341410APCc.5082del (p.Gly1695GlufsTer?)
c.*5034del (n.*5034del)
c.4974del (p.Gly1659GlufsTer?)
c.5028del (p.Gly1677GlufsTer?)
c.*4350del (n.*4350del)
c.230+11650del
c.5058del (p.Gly1687GlufsTer?)
c.4953del (p.Gly1652GlufsTer?)
c.4944del (p.Gly1649GlufsTer?)
c.4905del (p.Gly1636GlufsTer?)
c.4851del (p.Gly1618GlufsTer?)
c.4755del (p.Gly1586GlufsTer?)
c.4725del (p.Gly1576GlufsTer?)
c.4650del (p.Gly1551GlufsTer?)
c.4548del (p.Gly1517GlufsTer?)
c.4179del (p.Gly1394GlufsTer?)
 ClinVar
5g.112840622A>CCA16032329APCc.5082A>C (p.Arg1694Ser)
c.*5034A>C (n.*5034A>C)
c.4974A>C (p.Arg1658Ser)
c.5028A>C (p.Arg1676Ser)
c.*4350A>C (n.*4350A>C)
c.230+11650A>C
c.5058A>C (p.Arg1686Ser)
c.4953A>C (p.Arg1651Ser)
c.4944A>C (p.Arg1648Ser)
c.4905A>C (p.Arg1635Ser)
c.4851A>C (p.Arg1617Ser)
c.4755A>C (p.Arg1585Ser)
c.4725A>C (p.Arg1575Ser)
c.4650A>C (p.Arg1550Ser)
c.4548A>C (p.Arg1516Ser)
c.4179A>C (p.Arg1393Ser)
5g.112840622A>GCA446208771APCc.5082A>G (p.Arg1694=)
c.*5034A>G (n.*5034A>G)
c.4974A>G (p.Arg1658=)
c.5028A>G (p.Arg1676=)
c.*4350A>G (n.*4350A>G)
c.230+11650A>G
c.5058A>G (p.Arg1686=)
c.4953A>G (p.Arg1651=)
c.4944A>G (p.Arg1648=)
c.4905A>G (p.Arg1635=)
c.4851A>G (p.Arg1617=)
c.4755A>G (p.Arg1585=)
c.4725A>G (p.Arg1575=)
c.4650A>G (p.Arg1550=)
c.4548A>G (p.Arg1516=)
c.4179A>G (p.Arg1393=)
 gnomAD v4
5g.112840622A>TCA16032330APCc.5082A>T (p.Arg1694Ser)
c.*5034A>T (n.*5034A>T)
c.4974A>T (p.Arg1658Ser)
c.5028A>T (p.Arg1676Ser)
c.*4350A>T (n.*4350A>T)
c.230+11650A>T
c.5058A>T (p.Arg1686Ser)
c.4953A>T (p.Arg1651Ser)
c.4944A>T (p.Arg1648Ser)
c.4905A>T (p.Arg1635Ser)
c.4851A>T (p.Arg1617Ser)
c.4755A>T (p.Arg1585Ser)
c.4725A>T (p.Arg1575Ser)
c.4650A>T (p.Arg1550Ser)
c.4548A>T (p.Arg1516Ser)
c.4179A>T (p.Arg1393Ser)
 ClinVar dbSNP
5g.112840623G>ACA16032331APCc.5083G>A (p.Gly1695Arg)
c.*5035G>A (n.*5035G>A)
c.4975G>A (p.Gly1659Arg)
c.5029G>A (p.Gly1677Arg)
c.*4351G>A (n.*4351G>A)
c.230+11651G>A
c.5059G>A (p.Gly1687Arg)
c.4954G>A (p.Gly1652Arg)
c.4945G>A (p.Gly1649Arg)
c.4906G>A (p.Gly1636Arg)
c.4852G>A (p.Gly1618Arg)
c.4756G>A (p.Gly1586Arg)
c.4726G>A (p.Gly1576Arg)
c.4651G>A (p.Gly1551Arg)
c.4549G>A (p.Gly1517Arg)
c.4180G>A (p.Gly1394Arg)
 dbSNP
5g.112840623G>CCA16032332APCc.5083G>C (p.Gly1695Arg)
c.*5035G>C (n.*5035G>C)
c.4975G>C (p.Gly1659Arg)
c.5029G>C (p.Gly1677Arg)
c.*4351G>C (n.*4351G>C)
c.230+11651G>C
c.5059G>C (p.Gly1687Arg)
c.4954G>C (p.Gly1652Arg)
c.4945G>C (p.Gly1649Arg)
c.4906G>C (p.Gly1636Arg)
c.4852G>C (p.Gly1618Arg)
c.4756G>C (p.Gly1586Arg)
c.4726G>C (p.Gly1576Arg)
c.4651G>C (p.Gly1551Arg)
c.4549G>C (p.Gly1517Arg)
c.4180G>C (p.Gly1394Arg)
 dbSNP
5g.112840623G>TCA16032333APCc.5083G>T (p.Gly1695Ter)
c.*5035G>T (n.*5035G>T)
c.4975G>T (p.Gly1659Ter)
c.5029G>T (p.Gly1677Ter)
c.*4351G>T (n.*4351G>T)
c.230+11651G>T
c.5059G>T (p.Gly1687Ter)
c.4954G>T (p.Gly1652Ter)
c.4945G>T (p.Gly1649Ter)
c.4906G>T (p.Gly1636Ter)
c.4852G>T (p.Gly1618Ter)
c.4756G>T (p.Gly1586Ter)
c.4726G>T (p.Gly1576Ter)
c.4651G>T (p.Gly1551Ter)
c.4549G>T (p.Gly1517Ter)
c.4180G>T (p.Gly1394Ter)
 ClinVar dbSNP
5g.112840624G>ACA16032334APCc.5084G>A (p.Gly1695Glu)
c.*5036G>A (n.*5036G>A)
c.4976G>A (p.Gly1659Glu)
c.5030G>A (p.Gly1677Glu)
c.*4352G>A (n.*4352G>A)
c.230+11652G>A
c.5060G>A (p.Gly1687Glu)
c.4955G>A (p.Gly1652Glu)
c.4946G>A (p.Gly1649Glu)
c.4907G>A (p.Gly1636Glu)
c.4853G>A (p.Gly1618Glu)
c.4757G>A (p.Gly1586Glu)
c.4727G>A (p.Gly1576Glu)
c.4652G>A (p.Gly1551Glu)
c.4550G>A (p.Gly1517Glu)
c.4181G>A (p.Gly1394Glu)
 ClinVar dbSNP
5g.112840624G>CCA16032335APCc.5084G>C (p.Gly1695Ala)
c.*5036G>C (n.*5036G>C)
c.4976G>C (p.Gly1659Ala)
c.5030G>C (p.Gly1677Ala)
c.*4352G>C (n.*4352G>C)
c.230+11652G>C
c.5060G>C (p.Gly1687Ala)
c.4955G>C (p.Gly1652Ala)
c.4946G>C (p.Gly1649Ala)
c.4907G>C (p.Gly1636Ala)
c.4853G>C (p.Gly1618Ala)
c.4757G>C (p.Gly1586Ala)
c.4727G>C (p.Gly1576Ala)
c.4652G>C (p.Gly1551Ala)
c.4550G>C (p.Gly1517Ala)
c.4181G>C (p.Gly1394Ala)
 dbSNP
5g.112840624G>TCA16032336APCc.5084G>T (p.Gly1695Val)
c.*5036G>T (n.*5036G>T)
c.4976G>T (p.Gly1659Val)
c.5030G>T (p.Gly1677Val)
c.*4352G>T (n.*4352G>T)
c.230+11652G>T
c.5060G>T (p.Gly1687Val)
c.4955G>T (p.Gly1652Val)
c.4946G>T (p.Gly1649Val)
c.4907G>T (p.Gly1636Val)
c.4853G>T (p.Gly1618Val)
c.4757G>T (p.Gly1586Val)
c.4727G>T (p.Gly1576Val)
c.4652G>T (p.Gly1551Val)
c.4550G>T (p.Gly1517Val)
c.4181G>T (p.Gly1394Val)
 dbSNP
5g.112840625delCA2580072612APCc.5085del (p.Ala1697HisfsTer?)
c.*5037del (n.*5037del)
c.4977del (p.Ala1661HisfsTer?)
c.5031del (p.Ala1679HisfsTer?)
c.*4353del (n.*4353del)
c.230+11653del
c.5061del (p.Ala1689HisfsTer?)
c.4956del (p.Ala1654HisfsTer?)
c.4947del (p.Ala1651HisfsTer?)
c.4908del (p.Ala1638HisfsTer?)
c.4854del (p.Ala1620HisfsTer?)
c.4758del (p.Ala1588HisfsTer?)
c.4728del (p.Ala1578HisfsTer?)
c.4653del (p.Ala1553HisfsTer?)
c.4551del (p.Ala1519HisfsTer?)
c.4182del (p.Ala1396HisfsTer?)
 ClinVar
5g.112840625A=CA1573473243APCc.5085A= (p.Gly1695=)
c.*5037A= (n.*5037A=)
c.4977A= (p.Gly1659=)
c.5031A= (p.Gly1677=)
c.*4353A= (n.*4353A=)
c.230+11653A=
c.5061A= (p.Gly1687=)
c.4956A= (p.Gly1652=)
c.4947A= (p.Gly1649=)
c.4908A= (p.Gly1636=)
c.4854A= (p.Gly1618=)
c.4758A= (p.Gly1586=)
c.4728A= (p.Gly1576=)
c.4653A= (p.Gly1551=)
c.4551A= (p.Gly1517=)
c.4182A= (p.Gly1394=)
5g.112840625A>CCA446209527APCc.5085A>C (p.Gly1695=)
c.*5037A>C (n.*5037A>C)
c.4977A>C (p.Gly1659=)
c.5031A>C (p.Gly1677=)
c.*4353A>C (n.*4353A>C)
c.230+11653A>C
c.5061A>C (p.Gly1687=)
c.4956A>C (p.Gly1652=)
c.4947A>C (p.Gly1649=)
c.4908A>C (p.Gly1636=)
c.4854A>C (p.Gly1618=)
c.4758A>C (p.Gly1586=)
c.4728A>C (p.Gly1576=)
c.4653A>C (p.Gly1551=)
c.4551A>C (p.Gly1517=)
c.4182A>C (p.Gly1394=)
 ClinVar
5g.112840625A>GCA10582323APCc.5085A>G (p.Gly1695=)
c.*5037A>G (n.*5037A>G)
c.4977A>G (p.Gly1659=)
c.5031A>G (p.Gly1677=)
c.*4353A>G (n.*4353A>G)
c.230+11653A>G
c.5061A>G (p.Gly1687=)
c.4956A>G (p.Gly1652=)
c.4947A>G (p.Gly1649=)
c.4908A>G (p.Gly1636=)
c.4854A>G (p.Gly1618=)
c.4758A>G (p.Gly1586=)
c.4728A>G (p.Gly1576=)
c.4653A>G (p.Gly1551=)
c.4551A>G (p.Gly1517=)
c.4182A>G (p.Gly1394=)
 ClinVar dbSNP
5g.112840625A>TCA446209528APCc.5085A>T (p.Gly1695=)
c.*5037A>T (n.*5037A>T)
c.4977A>T (p.Gly1659=)
c.5031A>T (p.Gly1677=)
c.*4353A>T (n.*4353A>T)
c.230+11653A>T
c.5061A>T (p.Gly1687=)
c.4956A>T (p.Gly1652=)
c.4947A>T (p.Gly1649=)
c.4908A>T (p.Gly1636=)
c.4854A>T (p.Gly1618=)
c.4758A>T (p.Gly1586=)
c.4728A>T (p.Gly1576=)
c.4653A>T (p.Gly1551=)
c.4551A>T (p.Gly1517=)
c.4182A>T (p.Gly1394=)
 gnomAD v4
5g.112840625_112840628delinsAGGGCA1573473231APCc.5085_5088delinsAGGG (p.Gly1695=)
c.*5037_*5040delinsAGGG (n.*5037_*5040delinsAGGG)
c.4977_4980delinsAGGG (p.Gly1659=)
c.5031_5034delinsAGGG (p.Gly1677=)
c.*4353_*4356delinsAGGG (n.*4353_*4356delinsAGGG)
c.230+11653_230+11656delinsAGGG
c.5061_5064delinsAGGG (p.Gly1687=)
c.4956_4959delinsAGGG (p.Gly1652=)
c.4947_4950delinsAGGG (p.Gly1649=)
c.4908_4911delinsAGGG (p.Gly1636=)
c.4854_4857delinsAGGG (p.Gly1618=)
c.4758_4761delinsAGGG (p.Gly1586=)
c.4728_4731delinsAGGG (p.Gly1576=)
c.4653_4656delinsAGGG (p.Gly1551=)
c.4551_4554delinsAGGG (p.Gly1517=)
c.4182_4185delinsAGGG (p.Gly1394=)
5g.112840626G>ACA16032337APCc.5086G>A (p.Gly1696Arg)
c.*5038G>A (n.*5038G>A)
c.4978G>A (p.Gly1660Arg)
c.5032G>A (p.Gly1678Arg)
c.*4354G>A (n.*4354G>A)
c.230+11654G>A
c.5062G>A (p.Gly1688Arg)
c.4957G>A (p.Gly1653Arg)
c.4948G>A (p.Gly1650Arg)
c.4909G>A (p.Gly1637Arg)
c.4855G>A (p.Gly1619Arg)
c.4759G>A (p.Gly1587Arg)
c.4729G>A (p.Gly1577Arg)
c.4654G>A (p.Gly1552Arg)
c.4552G>A (p.Gly1518Arg)
c.4183G>A (p.Gly1395Arg)
 gnomAD v4
5g.112840626G>CCA16032338APCc.5086G>C (p.Gly1696Arg)
c.*5038G>C (n.*5038G>C)
c.4978G>C (p.Gly1660Arg)
c.5032G>C (p.Gly1678Arg)
c.*4354G>C (n.*4354G>C)
c.230+11654G>C
c.5062G>C (p.Gly1688Arg)
c.4957G>C (p.Gly1653Arg)
c.4948G>C (p.Gly1650Arg)
c.4909G>C (p.Gly1637Arg)
c.4855G>C (p.Gly1619Arg)
c.4759G>C (p.Gly1587Arg)
c.4729G>C (p.Gly1577Arg)
c.4654G>C (p.Gly1552Arg)
c.4552G>C (p.Gly1518Arg)
c.4183G>C (p.Gly1395Arg)
5g.112840626G>TCA16032339APCc.5086G>T (p.Gly1696Trp)
c.*5038G>T (n.*5038G>T)
c.4978G>T (p.Gly1660Trp)
c.5032G>T (p.Gly1678Trp)
c.*4354G>T (n.*4354G>T)
c.230+11654G>T
c.5062G>T (p.Gly1688Trp)
c.4957G>T (p.Gly1653Trp)
c.4948G>T (p.Gly1650Trp)
c.4909G>T (p.Gly1637Trp)
c.4855G>T (p.Gly1619Trp)
c.4759G>T (p.Gly1587Trp)
c.4729G>T (p.Gly1577Trp)
c.4654G>T (p.Gly1552Trp)
c.4552G>T (p.Gly1518Trp)
c.4183G>T (p.Gly1395Trp)
5g.112840627_112840629delCA10578389APCc.5087_5089del (p.Gly1696del)
c.*5039_*5041del (n.*5039_*5041del)
c.4979_4981del (p.Gly1660del)
c.5033_5035del (p.Gly1678del)
c.*4355_*4357del (n.*4355_*4357del)
c.230+11655_230+11657del
c.5063_5065del (p.Gly1688del)
c.4958_4960del (p.Gly1653del)
c.4949_4951del (p.Gly1650del)
c.4910_4912del (p.Gly1637del)
c.4856_4858del (p.Gly1619del)
c.4760_4762del (p.Gly1587del)
c.4730_4732del (p.Gly1577del)
c.4655_4657del (p.Gly1552del)
c.4553_4555del (p.Gly1518del)
c.4184_4186del (p.Gly1395del)
 ClinVar dbSNP
5g.112840627G>ACA16032340APCc.5087G>A (p.Gly1696Glu)
c.*5039G>A (n.*5039G>A)
c.4979G>A (p.Gly1660Glu)
c.5033G>A (p.Gly1678Glu)
c.*4355G>A (n.*4355G>A)
c.230+11655G>A
c.5063G>A (p.Gly1688Glu)
c.4958G>A (p.Gly1653Glu)
c.4949G>A (p.Gly1650Glu)
c.4910G>A (p.Gly1637Glu)
c.4856G>A (p.Gly1619Glu)
c.4760G>A (p.Gly1587Glu)
c.4730G>A (p.Gly1577Glu)
c.4655G>A (p.Gly1552Glu)
c.4553G>A (p.Gly1518Glu)
c.4184G>A (p.Gly1395Glu)
 ClinVar dbSNP gnomAD v4
5g.112840627G>CCA16032341APCc.5087G>C (p.Gly1696Ala)
c.*5039G>C (n.*5039G>C)
c.4979G>C (p.Gly1660Ala)
c.5033G>C (p.Gly1678Ala)
c.*4355G>C (n.*4355G>C)
c.230+11655G>C
c.5063G>C (p.Gly1688Ala)
c.4958G>C (p.Gly1653Ala)
c.4949G>C (p.Gly1650Ala)
c.4910G>C (p.Gly1637Ala)
c.4856G>C (p.Gly1619Ala)
c.4760G>C (p.Gly1587Ala)
c.4730G>C (p.Gly1577Ala)
c.4655G>C (p.Gly1552Ala)
c.4553G>C (p.Gly1518Ala)
c.4184G>C (p.Gly1395Ala)
5g.112840627G=CA1573473261APCc.5087G= (p.Gly1696=)
c.*5039G= (n.*5039G=)
c.4979G= (p.Gly1660=)
c.5033G= (p.Gly1678=)
c.*4355G= (n.*4355G=)
c.230+11655G=
c.5063G= (p.Gly1688=)
c.4958G= (p.Gly1653=)
c.4949G= (p.Gly1650=)
c.4910G= (p.Gly1637=)
c.4856G= (p.Gly1619=)
c.4760G= (p.Gly1587=)
c.4730G= (p.Gly1577=)
c.4655G= (p.Gly1552=)
c.4553G= (p.Gly1518=)
c.4184G= (p.Gly1395=)
5g.112840627G>TCA16032342APCc.5087G>T (p.Gly1696Val)
c.*5039G>T (n.*5039G>T)
c.4979G>T (p.Gly1660Val)
c.5033G>T (p.Gly1678Val)
c.*4355G>T (n.*4355G>T)
c.230+11655G>T
c.5063G>T (p.Gly1688Val)
c.4958G>T (p.Gly1653Val)
c.4949G>T (p.Gly1650Val)
c.4910G>T (p.Gly1637Val)
c.4856G>T (p.Gly1619Val)
c.4760G>T (p.Gly1587Val)
c.4730G>T (p.Gly1577Val)
c.4655G>T (p.Gly1552Val)
c.4553G>T (p.Gly1518Val)
c.4184G>T (p.Gly1395Val)
5g.112840627_112840628delinsAACA1573473273APCc.5087_5088delinsAA (p.Gly1696Glu)
c.*5039_*5040delinsAA (n.*5039_*5040delinsAA)
c.4979_4980delinsAA (p.Gly1660Glu)
c.5033_5034delinsAA (p.Gly1678Glu)
c.*4355_*4356delinsAA (n.*4355_*4356delinsAA)
c.230+11655_230+11656delinsAA
c.5063_5064delinsAA (p.Gly1688Glu)
c.4958_4959delinsAA (p.Gly1653Glu)
c.4949_4950delinsAA (p.Gly1650Glu)
c.4910_4911delinsAA (p.Gly1637Glu)
c.4856_4857delinsAA (p.Gly1619Glu)
c.4760_4761delinsAA (p.Gly1587Glu)
c.4730_4731delinsAA (p.Gly1577Glu)
c.4655_4656delinsAA (p.Gly1552Glu)
c.4553_4554delinsAA (p.Gly1518Glu)
c.4184_4185delinsAA (p.Gly1395Glu)
 ClinVar dbSNP
5g.112840627_112840628delinsGGCA1573473270APCc.5087_5088delinsGG (p.Gly1696=)
c.*5039_*5040delinsGG (n.*5039_*5040delinsGG)
c.4979_4980delinsGG (p.Gly1660=)
c.5033_5034delinsGG (p.Gly1678=)
c.*4355_*4356delinsGG (n.*4355_*4356delinsGG)
c.230+11655_230+11656delinsGG
c.5063_5064delinsGG (p.Gly1688=)
c.4958_4959delinsGG (p.Gly1653=)
c.4949_4950delinsGG (p.Gly1650=)
c.4910_4911delinsGG (p.Gly1637=)
c.4856_4857delinsGG (p.Gly1619=)
c.4760_4761delinsGG (p.Gly1587=)
c.4730_4731delinsGG (p.Gly1577=)
c.4655_4656delinsGG (p.Gly1552=)
c.4553_4554delinsGG (p.Gly1518=)
c.4184_4185delinsGG (p.Gly1395=)
5g.112840628G>ACA009852APCc.5088G>A (p.Gly1696=)
c.*5040G>A (n.*5040G>A)
c.4980G>A (p.Gly1660=)
c.5034G>A (p.Gly1678=)
c.*4356G>A (n.*4356G>A)
c.230+11656G>A
c.5064G>A (p.Gly1688=)
c.4959G>A (p.Gly1653=)
c.4950G>A (p.Gly1650=)
c.4911G>A (p.Gly1637=)
c.4857G>A (p.Gly1619=)
c.4761G>A (p.Gly1587=)
c.4731G>A (p.Gly1577=)
c.4656G>A (p.Gly1552=)
c.4554G>A (p.Gly1518=)
c.4185G>A (p.Gly1395=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840628G>CCA446209529APCc.5088G>C (p.Gly1696=)
c.*5040G>C (n.*5040G>C)
c.4980G>C (p.Gly1660=)
c.5034G>C (p.Gly1678=)
c.*4356G>C (n.*4356G>C)
c.230+11656G>C
c.5064G>C (p.Gly1688=)
c.4959G>C (p.Gly1653=)
c.4950G>C (p.Gly1650=)
c.4911G>C (p.Gly1637=)
c.4857G>C (p.Gly1619=)
c.4761G>C (p.Gly1587=)
c.4731G>C (p.Gly1577=)
c.4656G>C (p.Gly1552=)
c.4554G>C (p.Gly1518=)
c.4185G>C (p.Gly1395=)
 dbSNP
5g.112840628G=CA1573473343APCc.5088G= (p.Gly1696=)
c.*5040G= (n.*5040G=)
c.4980G= (p.Gly1660=)
c.5034G= (p.Gly1678=)
c.*4356G= (n.*4356G=)
c.230+11656G=
c.5064G= (p.Gly1688=)
c.4959G= (p.Gly1653=)
c.4950G= (p.Gly1650=)
c.4911G= (p.Gly1637=)
c.4857G= (p.Gly1619=)
c.4761G= (p.Gly1587=)
c.4731G= (p.Gly1577=)
c.4656G= (p.Gly1552=)
c.4554G= (p.Gly1518=)
c.4185G= (p.Gly1395=)
5g.112840628G>TCA446209530APCc.5088G>T (p.Gly1696=)
c.*5040G>T (n.*5040G>T)
c.4980G>T (p.Gly1660=)
c.5034G>T (p.Gly1678=)
c.*4356G>T (n.*4356G>T)
c.230+11656G>T
c.5064G>T (p.Gly1688=)
c.4959G>T (p.Gly1653=)
c.4950G>T (p.Gly1650=)
c.4911G>T (p.Gly1637=)
c.4857G>T (p.Gly1619=)
c.4761G>T (p.Gly1587=)
c.4731G>T (p.Gly1577=)
c.4656G>T (p.Gly1552=)
c.4554G>T (p.Gly1518=)
c.4185G>T (p.Gly1395=)
 ClinVar dbSNP
5g.112840629G>ACA16032343APCc.5089G>A (p.Ala1697Thr)
c.*5041G>A (n.*5041G>A)
c.4981G>A (p.Ala1661Thr)
c.5035G>A (p.Ala1679Thr)
c.*4357G>A (n.*4357G>A)
c.230+11657G>A
c.5065G>A (p.Ala1689Thr)
c.4960G>A (p.Ala1654Thr)
c.4951G>A (p.Ala1651Thr)
c.4912G>A (p.Ala1638Thr)
c.4858G>A (p.Ala1620Thr)
c.4762G>A (p.Ala1588Thr)
c.4732G>A (p.Ala1578Thr)
c.4657G>A (p.Ala1553Thr)
c.4555G>A (p.Ala1519Thr)
c.4186G>A (p.Ala1396Thr)
 ClinVar dbSNP
5g.112840629G>CCA16032344APCc.5089G>C (p.Ala1697Pro)
c.*5041G>C (n.*5041G>C)
c.4981G>C (p.Ala1661Pro)
c.5035G>C (p.Ala1679Pro)
c.*4357G>C (n.*4357G>C)
c.230+11657G>C
c.5065G>C (p.Ala1689Pro)
c.4960G>C (p.Ala1654Pro)
c.4951G>C (p.Ala1651Pro)
c.4912G>C (p.Ala1638Pro)
c.4858G>C (p.Ala1620Pro)
c.4762G>C (p.Ala1588Pro)
c.4732G>C (p.Ala1578Pro)
c.4657G>C (p.Ala1553Pro)
c.4555G>C (p.Ala1519Pro)
c.4186G>C (p.Ala1396Pro)
 dbSNP
5g.112840629G>TCA16032345APCc.5089G>T (p.Ala1697Ser)
c.*5041G>T (n.*5041G>T)
c.4981G>T (p.Ala1661Ser)
c.5035G>T (p.Ala1679Ser)
c.*4357G>T (n.*4357G>T)
c.230+11657G>T
c.5065G>T (p.Ala1689Ser)
c.4960G>T (p.Ala1654Ser)
c.4951G>T (p.Ala1651Ser)
c.4912G>T (p.Ala1638Ser)
c.4858G>T (p.Ala1620Ser)
c.4762G>T (p.Ala1588Ser)
c.4732G>T (p.Ala1578Ser)
c.4657G>T (p.Ala1553Ser)
c.4555G>T (p.Ala1519Ser)
c.4186G>T (p.Ala1396Ser)
5g.112840630C>ACA16032346APCc.5090C>A (p.Ala1697Glu)
c.*5042C>A (n.*5042C>A)
c.4982C>A (p.Ala1661Glu)
c.5036C>A (p.Ala1679Glu)
c.*4358C>A (n.*4358C>A)
c.230+11658C>A
c.5066C>A (p.Ala1689Glu)
c.4961C>A (p.Ala1654Glu)
c.4952C>A (p.Ala1651Glu)
c.4913C>A (p.Ala1638Glu)
c.4859C>A (p.Ala1620Glu)
c.4763C>A (p.Ala1588Glu)
c.4733C>A (p.Ala1578Glu)
c.4658C>A (p.Ala1553Glu)
c.4556C>A (p.Ala1519Glu)
c.4187C>A (p.Ala1396Glu)
 dbSNP gnomAD v4
5g.112840630C>GCA16032347APCc.5090C>G (p.Ala1697Gly)
c.*5042C>G (n.*5042C>G)
c.4982C>G (p.Ala1661Gly)
c.5036C>G (p.Ala1679Gly)
c.*4358C>G (n.*4358C>G)
c.230+11658C>G
c.5066C>G (p.Ala1689Gly)
c.4961C>G (p.Ala1654Gly)
c.4952C>G (p.Ala1651Gly)
c.4913C>G (p.Ala1638Gly)
c.4859C>G (p.Ala1620Gly)
c.4763C>G (p.Ala1588Gly)
c.4733C>G (p.Ala1578Gly)
c.4658C>G (p.Ala1553Gly)
c.4556C>G (p.Ala1519Gly)
c.4187C>G (p.Ala1396Gly)
 dbSNP
5g.112840630C>TCA16032348APCc.5090C>T (p.Ala1697Val)
c.*5042C>T (n.*5042C>T)
c.4982C>T (p.Ala1661Val)
c.5036C>T (p.Ala1679Val)
c.*4358C>T (n.*4358C>T)
c.230+11658C>T
c.5066C>T (p.Ala1689Val)
c.4961C>T (p.Ala1654Val)
c.4952C>T (p.Ala1651Val)
c.4913C>T (p.Ala1638Val)
c.4859C>T (p.Ala1620Val)
c.4763C>T (p.Ala1588Val)
c.4733C>T (p.Ala1578Val)
c.4658C>T (p.Ala1553Val)
c.4556C>T (p.Ala1519Val)
c.4187C>T (p.Ala1396Val)
 dbSNP
5g.112840631A=CA1573473362APCc.5091A= (p.Ala1697=)
c.*5043A= (n.*5043A=)
c.4983A= (p.Ala1661=)
c.5037A= (p.Ala1679=)
c.*4359A= (n.*4359A=)
c.230+11659A=
c.5067A= (p.Ala1689=)
c.4962A= (p.Ala1654=)
c.4953A= (p.Ala1651=)
c.4914A= (p.Ala1638=)
c.4860A= (p.Ala1620=)
c.4764A= (p.Ala1588=)
c.4734A= (p.Ala1578=)
c.4659A= (p.Ala1553=)
c.4557A= (p.Ala1519=)
c.4188A= (p.Ala1396=)
5g.112840631A>CCA446209532APCc.5091A>C (p.Ala1697=)
c.*5043A>C (n.*5043A>C)
c.4983A>C (p.Ala1661=)
c.5037A>C (p.Ala1679=)
c.*4359A>C (n.*4359A>C)
c.230+11659A>C
c.5067A>C (p.Ala1689=)
c.4962A>C (p.Ala1654=)
c.4953A>C (p.Ala1651=)
c.4914A>C (p.Ala1638=)
c.4860A>C (p.Ala1620=)
c.4764A>C (p.Ala1588=)
c.4734A>C (p.Ala1578=)
c.4659A>C (p.Ala1553=)
c.4557A>C (p.Ala1519=)
c.4188A>C (p.Ala1396=)
5g.112840631A>GCA446209533APCc.5091A>G (p.Ala1697=)
c.*5043A>G (n.*5043A>G)
c.4983A>G (p.Ala1661=)
c.5037A>G (p.Ala1679=)
c.*4359A>G (n.*4359A>G)
c.230+11659A>G
c.5067A>G (p.Ala1689=)
c.4962A>G (p.Ala1654=)
c.4953A>G (p.Ala1651=)
c.4914A>G (p.Ala1638=)
c.4860A>G (p.Ala1620=)
c.4764A>G (p.Ala1588=)
c.4734A>G (p.Ala1578=)
c.4659A>G (p.Ala1553=)
c.4557A>G (p.Ala1519=)
c.4188A>G (p.Ala1396=)
 ClinVar dbSNP
5g.112840631A>TCA446209531APCc.5091A>T (p.Ala1697=)
c.*5043A>T (n.*5043A>T)
c.4983A>T (p.Ala1661=)
c.5037A>T (p.Ala1679=)
c.*4359A>T (n.*4359A>T)
c.230+11659A>T
c.5067A>T (p.Ala1689=)
c.4962A>T (p.Ala1654=)
c.4953A>T (p.Ala1651=)
c.4914A>T (p.Ala1638=)
c.4860A>T (p.Ala1620=)
c.4764A>T (p.Ala1588=)
c.4734A>T (p.Ala1578=)
c.4659A>T (p.Ala1553=)
c.4557A>T (p.Ala1519=)
c.4188A>T (p.Ala1396=)
5g.112840632C>ACA16032349APCc.5092C>A (p.Gln1698Lys)
c.*5044C>A (n.*5044C>A)
c.4984C>A (p.Gln1662Lys)
c.5038C>A (p.Gln1680Lys)
c.*4360C>A (n.*4360C>A)
c.230+11660C>A
c.5068C>A (p.Gln1690Lys)
c.4963C>A (p.Gln1655Lys)
c.4954C>A (p.Gln1652Lys)
c.4915C>A (p.Gln1639Lys)
c.4861C>A (p.Gln1621Lys)
c.4765C>A (p.Gln1589Lys)
c.4735C>A (p.Gln1579Lys)
c.4660C>A (p.Gln1554Lys)
c.4558C>A (p.Gln1520Lys)
c.4189C>A (p.Gln1397Lys)
 dbSNP
5g.112840632C=CA1573473388APCc.5092C= (p.Gln1698=)
c.*5044C= (n.*5044C=)
c.4984C= (p.Gln1662=)
c.5038C= (p.Gln1680=)
c.*4360C= (n.*4360C=)
c.230+11660C=
c.5068C= (p.Gln1690=)
c.4963C= (p.Gln1655=)
c.4954C= (p.Gln1652=)
c.4915C= (p.Gln1639=)
c.4861C= (p.Gln1621=)
c.4765C= (p.Gln1589=)
c.4735C= (p.Gln1579=)
c.4660C= (p.Gln1554=)
c.4558C= (p.Gln1520=)
c.4189C= (p.Gln1397=)
5g.112840632C>GCA040478APCc.5092C>G (p.Gln1698Glu)
c.*5044C>G (n.*5044C>G)
c.4984C>G (p.Gln1662Glu)
c.5038C>G (p.Gln1680Glu)
c.*4360C>G (n.*4360C>G)
c.230+11660C>G
c.5068C>G (p.Gln1690Glu)
c.4963C>G (p.Gln1655Glu)
c.4954C>G (p.Gln1652Glu)
c.4915C>G (p.Gln1639Glu)
c.4861C>G (p.Gln1621Glu)
c.4765C>G (p.Gln1589Glu)
c.4735C>G (p.Gln1579Glu)
c.4660C>G (p.Gln1554Glu)
c.4558C>G (p.Gln1520Glu)
c.4189C>G (p.Gln1397Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840632C>TCA10578390APCc.5092C>T (p.Gln1698Ter)
c.*5044C>T (n.*5044C>T)
c.4984C>T (p.Gln1662Ter)
c.5038C>T (p.Gln1680Ter)
c.*4360C>T (n.*4360C>T)
c.230+11660C>T
c.5068C>T (p.Gln1690Ter)
c.4963C>T (p.Gln1655Ter)
c.4954C>T (p.Gln1652Ter)
c.4915C>T (p.Gln1639Ter)
c.4861C>T (p.Gln1621Ter)
c.4765C>T (p.Gln1589Ter)
c.4735C>T (p.Gln1579Ter)
c.4660C>T (p.Gln1554Ter)
c.4558C>T (p.Gln1520Ter)
c.4189C>T (p.Gln1397Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840633A>CCA16032350APCc.5093A>C (p.Gln1698Pro)
c.*5045A>C (n.*5045A>C)
c.4985A>C (p.Gln1662Pro)
c.5039A>C (p.Gln1680Pro)
c.*4361A>C (n.*4361A>C)
c.230+11661A>C
c.5069A>C (p.Gln1690Pro)
c.4964A>C (p.Gln1655Pro)
c.4955A>C (p.Gln1652Pro)
c.4916A>C (p.Gln1639Pro)
c.4862A>C (p.Gln1621Pro)
c.4766A>C (p.Gln1589Pro)
c.4736A>C (p.Gln1579Pro)
c.4661A>C (p.Gln1554Pro)
c.4559A>C (p.Gln1520Pro)
c.4190A>C (p.Gln1397Pro)
 ClinVar gnomAD v4
5g.112840633A>GCA16032351APCc.5093A>G (p.Gln1698Arg)
c.*5045A>G (n.*5045A>G)
c.4985A>G (p.Gln1662Arg)
c.5039A>G (p.Gln1680Arg)
c.*4361A>G (n.*4361A>G)
c.230+11661A>G
c.5069A>G (p.Gln1690Arg)
c.4964A>G (p.Gln1655Arg)
c.4955A>G (p.Gln1652Arg)
c.4916A>G (p.Gln1639Arg)
c.4862A>G (p.Gln1621Arg)
c.4766A>G (p.Gln1589Arg)
c.4736A>G (p.Gln1579Arg)
c.4661A>G (p.Gln1554Arg)
c.4559A>G (p.Gln1520Arg)
c.4190A>G (p.Gln1397Arg)
 dbSNP
5g.112840633A>TCA16032352APCc.5093A>T (p.Gln1698Leu)
c.*5045A>T (n.*5045A>T)
c.4985A>T (p.Gln1662Leu)
c.5039A>T (p.Gln1680Leu)
c.*4361A>T (n.*4361A>T)
c.230+11661A>T
c.5069A>T (p.Gln1690Leu)
c.4964A>T (p.Gln1655Leu)
c.4955A>T (p.Gln1652Leu)
c.4916A>T (p.Gln1639Leu)
c.4862A>T (p.Gln1621Leu)
c.4766A>T (p.Gln1589Leu)
c.4736A>T (p.Gln1579Leu)
c.4661A>T (p.Gln1554Leu)
c.4559A>T (p.Gln1520Leu)
c.4190A>T (p.Gln1397Leu)
 dbSNP
5g.112840634G>ACA446209534APCc.5094G>A (p.Gln1698=)
c.*5046G>A (n.*5046G>A)
c.4986G>A (p.Gln1662=)
c.5040G>A (p.Gln1680=)
c.*4362G>A (n.*4362G>A)
c.230+11662G>A
c.5070G>A (p.Gln1690=)
c.4965G>A (p.Gln1655=)
c.4956G>A (p.Gln1652=)
c.4917G>A (p.Gln1639=)
c.4863G>A (p.Gln1621=)
c.4767G>A (p.Gln1589=)
c.4737G>A (p.Gln1579=)
c.4662G>A (p.Gln1554=)
c.4560G>A (p.Gln1520=)
c.4191G>A (p.Gln1397=)
 dbSNP
5g.112840634G>CCA16032353APCc.5094G>C (p.Gln1698His)
c.*5046G>C (n.*5046G>C)
c.4986G>C (p.Gln1662His)
c.5040G>C (p.Gln1680His)
c.*4362G>C (n.*4362G>C)
c.230+11662G>C
c.5070G>C (p.Gln1690His)
c.4965G>C (p.Gln1655His)
c.4956G>C (p.Gln1652His)
c.4917G>C (p.Gln1639His)
c.4863G>C (p.Gln1621His)
c.4767G>C (p.Gln1589His)
c.4737G>C (p.Gln1579His)
c.4662G>C (p.Gln1554His)
c.4560G>C (p.Gln1520His)
c.4191G>C (p.Gln1397His)
 dbSNP
5g.112840634G>TCA16032354APCc.5094G>T (p.Gln1698His)
c.*5046G>T (n.*5046G>T)
c.4986G>T (p.Gln1662His)
c.5040G>T (p.Gln1680His)
c.*4362G>T (n.*4362G>T)
c.230+11662G>T
c.5070G>T (p.Gln1690His)
c.4965G>T (p.Gln1655His)
c.4956G>T (p.Gln1652His)
c.4917G>T (p.Gln1639His)
c.4863G>T (p.Gln1621His)
c.4767G>T (p.Gln1589His)
c.4737G>T (p.Gln1579His)
c.4662G>T (p.Gln1554His)
c.4560G>T (p.Gln1520His)
c.4191G>T (p.Gln1397His)
 dbSNP
5g.112840635T>ACA16032355APCc.5095T>A (p.Ser1699Thr)
c.*5047T>A (n.*5047T>A)
c.4987T>A (p.Ser1663Thr)
c.5041T>A (p.Ser1681Thr)
c.*4363T>A (n.*4363T>A)
c.230+11663T>A
c.5071T>A (p.Ser1691Thr)
c.4966T>A (p.Ser1656Thr)
c.4957T>A (p.Ser1653Thr)
c.4918T>A (p.Ser1640Thr)
c.4864T>A (p.Ser1622Thr)
c.4768T>A (p.Ser1590Thr)
c.4738T>A (p.Ser1580Thr)
c.4663T>A (p.Ser1555Thr)
c.4561T>A (p.Ser1521Thr)
c.4192T>A (p.Ser1398Thr)
 ClinVar dbSNP
5g.112840635T>CCA16032356APCc.5095T>C (p.Ser1699Pro)
c.*5047T>C (n.*5047T>C)
c.4987T>C (p.Ser1663Pro)
c.5041T>C (p.Ser1681Pro)
c.*4363T>C (n.*4363T>C)
c.230+11663T>C
c.5071T>C (p.Ser1691Pro)
c.4966T>C (p.Ser1656Pro)
c.4957T>C (p.Ser1653Pro)
c.4918T>C (p.Ser1640Pro)
c.4864T>C (p.Ser1622Pro)
c.4768T>C (p.Ser1590Pro)
c.4738T>C (p.Ser1580Pro)
c.4663T>C (p.Ser1555Pro)
c.4561T>C (p.Ser1521Pro)
c.4192T>C (p.Ser1398Pro)
 dbSNP
5g.112840635T>GCA16032357APCc.5095T>G (p.Ser1699Ala)
c.*5047T>G (n.*5047T>G)
c.4987T>G (p.Ser1663Ala)
c.5041T>G (p.Ser1681Ala)
c.*4363T>G (n.*4363T>G)
c.230+11663T>G
c.5071T>G (p.Ser1691Ala)
c.4966T>G (p.Ser1656Ala)
c.4957T>G (p.Ser1653Ala)
c.4918T>G (p.Ser1640Ala)
c.4864T>G (p.Ser1622Ala)
c.4768T>G (p.Ser1590Ala)
c.4738T>G (p.Ser1580Ala)
c.4663T>G (p.Ser1555Ala)
c.4561T>G (p.Ser1521Ala)
c.4192T>G (p.Ser1398Ala)
 ClinVar dbSNP
5g.112840636C>ACA16032358APCc.5096C>A (p.Ser1699Ter)
c.*5048C>A (n.*5048C>A)
c.4988C>A (p.Ser1663Ter)
c.5042C>A (p.Ser1681Ter)
c.*4364C>A (n.*4364C>A)
c.230+11664C>A
c.5072C>A (p.Ser1691Ter)
c.4967C>A (p.Ser1656Ter)
c.4958C>A (p.Ser1653Ter)
c.4919C>A (p.Ser1640Ter)
c.4865C>A (p.Ser1622Ter)
c.4769C>A (p.Ser1590Ter)
c.4739C>A (p.Ser1580Ter)
c.4664C>A (p.Ser1555Ter)
c.4562C>A (p.Ser1521Ter)
c.4193C>A (p.Ser1398Ter)
 dbSNP gnomAD v4
5g.112840636C=CA1573473414APCc.5096C= (p.Ser1699=)
c.*5048C= (n.*5048C=)
c.4988C= (p.Ser1663=)
c.5042C= (p.Ser1681=)
c.*4364C= (n.*4364C=)
c.230+11664C=
c.5072C= (p.Ser1691=)
c.4967C= (p.Ser1656=)
c.4958C= (p.Ser1653=)
c.4919C= (p.Ser1640=)
c.4865C= (p.Ser1622=)
c.4769C= (p.Ser1590=)
c.4739C= (p.Ser1580=)
c.4664C= (p.Ser1555=)
c.4562C= (p.Ser1521=)
c.4193C= (p.Ser1398=)
5g.112840636C>GCA16032359APCc.5096C>G (p.Ser1699Ter)
c.*5048C>G (n.*5048C>G)
c.4988C>G (p.Ser1663Ter)
c.5042C>G (p.Ser1681Ter)
c.*4364C>G (n.*4364C>G)
c.230+11664C>G
c.5072C>G (p.Ser1691Ter)
c.4967C>G (p.Ser1656Ter)
c.4958C>G (p.Ser1653Ter)
c.4919C>G (p.Ser1640Ter)
c.4865C>G (p.Ser1622Ter)
c.4769C>G (p.Ser1590Ter)
c.4739C>G (p.Ser1580Ter)
c.4664C>G (p.Ser1555Ter)
c.4562C>G (p.Ser1521Ter)
c.4193C>G (p.Ser1398Ter)
 dbSNP
5g.112840636C>TCA10578391APCc.5096C>T (p.Ser1699Leu)
c.*5048C>T (n.*5048C>T)
c.4988C>T (p.Ser1663Leu)
c.5042C>T (p.Ser1681Leu)
c.*4364C>T (n.*4364C>T)
c.230+11664C>T
c.5072C>T (p.Ser1691Leu)
c.4967C>T (p.Ser1656Leu)
c.4958C>T (p.Ser1653Leu)
c.4919C>T (p.Ser1640Leu)
c.4865C>T (p.Ser1622Leu)
c.4769C>T (p.Ser1590Leu)
c.4739C>T (p.Ser1580Leu)
c.4664C>T (p.Ser1555Leu)
c.4562C>T (p.Ser1521Leu)
c.4193C>T (p.Ser1398Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840636_112840637insTCA2695205309APCc.5096_5097insT (p.Gly1700ArgfsTer2)
c.*5048_*5049insT (n.*5048_*5049insT)
c.4988_4989insT (p.Gly1664ArgfsTer2)
c.5042_5043insT (p.Gly1682ArgfsTer2)
c.*4364_*4365insT (n.*4364_*4365insT)
c.230+11664_230+11665insT
c.5072_5073insT (p.Gly1692ArgfsTer2)
c.4967_4968insT (p.Gly1657ArgfsTer2)
c.4958_4959insT (p.Gly1654ArgfsTer2)
c.4919_4920insT (p.Gly1641ArgfsTer2)
c.4865_4866insT (p.Gly1623ArgfsTer2)
c.4769_4770insT (p.Gly1591ArgfsTer2)
c.4739_4740insT (p.Gly1581ArgfsTer2)
c.4664_4665insT (p.Gly1556ArgfsTer2)
c.4562_4563insT (p.Gly1522ArgfsTer2)
c.4193_4194insT (p.Gly1399ArgfsTer2)
5g.112840637A=CA1573473431APCc.5097A= (p.Ser1699=)
c.*5049A= (n.*5049A=)
c.4989A= (p.Ser1663=)
c.5043A= (p.Ser1681=)
c.*4365A= (n.*4365A=)
c.230+11665A=
c.5073A= (p.Ser1691=)
c.4968A= (p.Ser1656=)
c.4959A= (p.Ser1653=)
c.4920A= (p.Ser1640=)
c.4866A= (p.Ser1622=)
c.4770A= (p.Ser1590=)
c.4740A= (p.Ser1580=)
c.4665A= (p.Ser1555=)
c.4563A= (p.Ser1521=)
c.4194A= (p.Ser1398=)
5g.112840637A>CCA446209535APCc.5097A>C (p.Ser1699=)
c.*5049A>C (n.*5049A>C)
c.4989A>C (p.Ser1663=)
c.5043A>C (p.Ser1681=)
c.*4365A>C (n.*4365A>C)
c.230+11665A>C
c.5073A>C (p.Ser1691=)
c.4968A>C (p.Ser1656=)
c.4959A>C (p.Ser1653=)
c.4920A>C (p.Ser1640=)
c.4866A>C (p.Ser1622=)
c.4770A>C (p.Ser1590=)
c.4740A>C (p.Ser1580=)
c.4665A>C (p.Ser1555=)
c.4563A>C (p.Ser1521=)
c.4194A>C (p.Ser1398=)
 ClinVar
5g.112840637A>GCA040490APCc.5097A>G (p.Ser1699=)
c.*5049A>G (n.*5049A>G)
c.4989A>G (p.Ser1663=)
c.5043A>G (p.Ser1681=)
c.*4365A>G (n.*4365A>G)
c.230+11665A>G
c.5073A>G (p.Ser1691=)
c.4968A>G (p.Ser1656=)
c.4959A>G (p.Ser1653=)
c.4920A>G (p.Ser1640=)
c.4866A>G (p.Ser1622=)
c.4770A>G (p.Ser1590=)
c.4740A>G (p.Ser1580=)
c.4665A>G (p.Ser1555=)
c.4563A>G (p.Ser1521=)
c.4194A>G (p.Ser1398=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840637A>TCA446209536APCc.5097A>T (p.Ser1699=)
c.*5049A>T (n.*5049A>T)
c.4989A>T (p.Ser1663=)
c.5043A>T (p.Ser1681=)
c.*4365A>T (n.*4365A>T)
c.230+11665A>T
c.5073A>T (p.Ser1691=)
c.4968A>T (p.Ser1656=)
c.4959A>T (p.Ser1653=)
c.4920A>T (p.Ser1640=)
c.4866A>T (p.Ser1622=)
c.4770A>T (p.Ser1590=)
c.4740A>T (p.Ser1580=)
c.4665A>T (p.Ser1555=)
c.4563A>T (p.Ser1521=)
c.4194A>T (p.Ser1398=)
 dbSNP
5g.112840638G>ACA16032360APCc.5098G>A (p.Gly1700Ser)
c.*5050G>A (n.*5050G>A)
c.4990G>A (p.Gly1664Ser)
c.5044G>A (p.Gly1682Ser)
c.*4366G>A (n.*4366G>A)
c.230+11666G>A
c.5074G>A (p.Gly1692Ser)
c.4969G>A (p.Gly1657Ser)
c.4960G>A (p.Gly1654Ser)
c.4921G>A (p.Gly1641Ser)
c.4867G>A (p.Gly1623Ser)
c.4771G>A (p.Gly1591Ser)
c.4741G>A (p.Gly1581Ser)
c.4666G>A (p.Gly1556Ser)
c.4564G>A (p.Gly1522Ser)
c.4195G>A (p.Gly1399Ser)
 ClinVar dbSNP gnomAD v4
5g.112840638G>CCA16032361APCc.5098G>C (p.Gly1700Arg)
c.*5050G>C (n.*5050G>C)
c.4990G>C (p.Gly1664Arg)
c.5044G>C (p.Gly1682Arg)
c.*4366G>C (n.*4366G>C)
c.230+11666G>C
c.5074G>C (p.Gly1692Arg)
c.4969G>C (p.Gly1657Arg)
c.4960G>C (p.Gly1654Arg)
c.4921G>C (p.Gly1641Arg)
c.4867G>C (p.Gly1623Arg)
c.4771G>C (p.Gly1591Arg)
c.4741G>C (p.Gly1581Arg)
c.4666G>C (p.Gly1556Arg)
c.4564G>C (p.Gly1522Arg)
c.4195G>C (p.Gly1399Arg)
 dbSNP
5g.112840638G>TCA16032362APCc.5098G>T (p.Gly1700Cys)
c.*5050G>T (n.*5050G>T)
c.4990G>T (p.Gly1664Cys)
c.5044G>T (p.Gly1682Cys)
c.*4366G>T (n.*4366G>T)
c.230+11666G>T
c.5074G>T (p.Gly1692Cys)
c.4969G>T (p.Gly1657Cys)
c.4960G>T (p.Gly1654Cys)
c.4921G>T (p.Gly1641Cys)
c.4867G>T (p.Gly1623Cys)
c.4771G>T (p.Gly1591Cys)
c.4741G>T (p.Gly1581Cys)
c.4666G>T (p.Gly1556Cys)
c.4564G>T (p.Gly1522Cys)
c.4195G>T (p.Gly1399Cys)
 dbSNP
5g.112840639G>ACA16032363APCc.5099G>A (p.Gly1700Asp)
c.*5051G>A (n.*5051G>A)
c.4991G>A (p.Gly1664Asp)
c.5045G>A (p.Gly1682Asp)
c.*4367G>A (n.*4367G>A)
c.230+11667G>A
c.5075G>A (p.Gly1692Asp)
c.4970G>A (p.Gly1657Asp)
c.4961G>A (p.Gly1654Asp)
c.4922G>A (p.Gly1641Asp)
c.4868G>A (p.Gly1623Asp)
c.4772G>A (p.Gly1591Asp)
c.4742G>A (p.Gly1581Asp)
c.4667G>A (p.Gly1556Asp)
c.4565G>A (p.Gly1522Asp)
c.4196G>A (p.Gly1399Asp)
 dbSNP
5g.112840639G>CCA16032364APCc.5099G>C (p.Gly1700Ala)
c.*5051G>C (n.*5051G>C)
c.4991G>C (p.Gly1664Ala)
c.5045G>C (p.Gly1682Ala)
c.*4367G>C (n.*4367G>C)
c.230+11667G>C
c.5075G>C (p.Gly1692Ala)
c.4970G>C (p.Gly1657Ala)
c.4961G>C (p.Gly1654Ala)
c.4922G>C (p.Gly1641Ala)
c.4868G>C (p.Gly1623Ala)
c.4772G>C (p.Gly1591Ala)
c.4742G>C (p.Gly1581Ala)
c.4667G>C (p.Gly1556Ala)
c.4565G>C (p.Gly1522Ala)
c.4196G>C (p.Gly1399Ala)
5g.112840639G>TCA16032365APCc.5099G>T (p.Gly1700Val)
c.*5051G>T (n.*5051G>T)
c.4991G>T (p.Gly1664Val)
c.5045G>T (p.Gly1682Val)
c.*4367G>T (n.*4367G>T)
c.230+11667G>T
c.5075G>T (p.Gly1692Val)
c.4970G>T (p.Gly1657Val)
c.4961G>T (p.Gly1654Val)
c.4922G>T (p.Gly1641Val)
c.4868G>T (p.Gly1623Val)
c.4772G>T (p.Gly1591Val)
c.4742G>T (p.Gly1581Val)
c.4667G>T (p.Gly1556Val)
c.4565G>T (p.Gly1522Val)
c.4196G>T (p.Gly1399Val)
 dbSNP gnomAD v4
5g.112840640T>ACA446209537APCc.5100T>A (p.Gly1700=)
c.*5052T>A (n.*5052T>A)
c.4992T>A (p.Gly1664=)
c.5046T>A (p.Gly1682=)
c.*4368T>A (n.*4368T>A)
c.230+11668T>A
c.5076T>A (p.Gly1692=)
c.4971T>A (p.Gly1657=)
c.4962T>A (p.Gly1654=)
c.4923T>A (p.Gly1641=)
c.4869T>A (p.Gly1623=)
c.4773T>A (p.Gly1591=)
c.4743T>A (p.Gly1581=)
c.4668T>A (p.Gly1556=)
c.4566T>A (p.Gly1522=)
c.4197T>A (p.Gly1399=)
 dbSNP
5g.112840640T>CCA446209538APCc.5100T>C (p.Gly1700=)
c.*5052T>C (n.*5052T>C)
c.4992T>C (p.Gly1664=)
c.5046T>C (p.Gly1682=)
c.*4368T>C (n.*4368T>C)
c.230+11668T>C
c.5076T>C (p.Gly1692=)
c.4971T>C (p.Gly1657=)
c.4962T>C (p.Gly1654=)
c.4923T>C (p.Gly1641=)
c.4869T>C (p.Gly1623=)
c.4773T>C (p.Gly1591=)
c.4743T>C (p.Gly1581=)
c.4668T>C (p.Gly1556=)
c.4566T>C (p.Gly1522=)
c.4197T>C (p.Gly1399=)
 ClinVar dbSNP
5g.112840640T>GCA446209539APCc.5100T>G (p.Gly1700=)
c.*5052T>G (n.*5052T>G)
c.4992T>G (p.Gly1664=)
c.5046T>G (p.Gly1682=)
c.*4368T>G (n.*4368T>G)
c.230+11668T>G
c.5076T>G (p.Gly1692=)
c.4971T>G (p.Gly1657=)
c.4962T>G (p.Gly1654=)
c.4923T>G (p.Gly1641=)
c.4869T>G (p.Gly1623=)
c.4773T>G (p.Gly1591=)
c.4743T>G (p.Gly1581=)
c.4668T>G (p.Gly1556=)
c.4566T>G (p.Gly1522=)
c.4197T>G (p.Gly1399=)
 ClinVar dbSNP
5g.112840641_112840645delCA2582341416APCc.5101_5105del (p.Glu1701Ter)
c.*5053_*5057del (n.*5053_*5057del)
c.4993_4997del (p.Glu1665Ter)
c.5047_5051del (p.Glu1683Ter)
c.*4369_*4373del (n.*4369_*4373del)
c.230+11669_230+11673del
c.5077_5081del (p.Glu1693Ter)
c.4972_4976del (p.Glu1658Ter)
c.4963_4967del (p.Glu1655Ter)
c.4924_4928del (p.Glu1642Ter)
c.4870_4874del (p.Glu1624Ter)
c.4774_4778del (p.Glu1592Ter)
c.4744_4748del (p.Glu1582Ter)
c.4669_4673del (p.Glu1557Ter)
c.4567_4571del (p.Glu1523Ter)
c.4198_4202del (p.Glu1400Ter)
 ClinVar
5g.112840641G>ACA16032366APCc.5101G>A (p.Glu1701Lys)
c.*5053G>A (n.*5053G>A)
c.4993G>A (p.Glu1665Lys)
c.5047G>A (p.Glu1683Lys)
c.*4369G>A (n.*4369G>A)
c.230+11669G>A
c.5077G>A (p.Glu1693Lys)
c.4972G>A (p.Glu1658Lys)
c.4963G>A (p.Glu1655Lys)
c.4924G>A (p.Glu1642Lys)
c.4870G>A (p.Glu1624Lys)
c.4774G>A (p.Glu1592Lys)
c.4744G>A (p.Glu1582Lys)
c.4669G>A (p.Glu1557Lys)
c.4567G>A (p.Glu1523Lys)
c.4198G>A (p.Glu1400Lys)
 ClinVar dbSNP
5g.112840641G>CCA16032367APCc.5101G>C (p.Glu1701Gln)
c.*5053G>C (n.*5053G>C)
c.4993G>C (p.Glu1665Gln)
c.5047G>C (p.Glu1683Gln)
c.*4369G>C (n.*4369G>C)
c.230+11669G>C
c.5077G>C (p.Glu1693Gln)
c.4972G>C (p.Glu1658Gln)
c.4963G>C (p.Glu1655Gln)
c.4924G>C (p.Glu1642Gln)
c.4870G>C (p.Glu1624Gln)
c.4774G>C (p.Glu1592Gln)
c.4744G>C (p.Glu1582Gln)
c.4669G>C (p.Glu1557Gln)
c.4567G>C (p.Glu1523Gln)
c.4198G>C (p.Glu1400Gln)
 dbSNP
5g.112840641G>TCA16032368APCc.5101G>T (p.Glu1701Ter)
c.*5053G>T (n.*5053G>T)
c.4993G>T (p.Glu1665Ter)
c.5047G>T (p.Glu1683Ter)
c.*4369G>T (n.*4369G>T)
c.230+11669G>T
c.5077G>T (p.Glu1693Ter)
c.4972G>T (p.Glu1658Ter)
c.4963G>T (p.Glu1655Ter)
c.4924G>T (p.Glu1642Ter)
c.4870G>T (p.Glu1624Ter)
c.4774G>T (p.Glu1592Ter)
c.4744G>T (p.Glu1582Ter)
c.4669G>T (p.Glu1557Ter)
c.4567G>T (p.Glu1523Ter)
c.4198G>T (p.Glu1400Ter)
 COSMIC
5g.112840642A=CA1573473443APCc.5102A= (p.Glu1701=)
c.*5054A= (n.*5054A=)
c.4994A= (p.Glu1665=)
c.5048A= (p.Glu1683=)
c.*4370A= (n.*4370A=)
c.230+11670A=
c.5078A= (p.Glu1693=)
c.4973A= (p.Glu1658=)
c.4964A= (p.Glu1655=)
c.4925A= (p.Glu1642=)
c.4871A= (p.Glu1624=)
c.4775A= (p.Glu1592=)
c.4745A= (p.Glu1582=)
c.4670A= (p.Glu1557=)
c.4568A= (p.Glu1523=)
c.4199A= (p.Glu1400=)
5g.112840642A>CCA16032369APCc.5102A>C (p.Glu1701Ala)
c.*5054A>C (n.*5054A>C)
c.4994A>C (p.Glu1665Ala)
c.5048A>C (p.Glu1683Ala)
c.*4370A>C (n.*4370A>C)
c.230+11670A>C
c.5078A>C (p.Glu1693Ala)
c.4973A>C (p.Glu1658Ala)
c.4964A>C (p.Glu1655Ala)
c.4925A>C (p.Glu1642Ala)
c.4871A>C (p.Glu1624Ala)
c.4775A>C (p.Glu1592Ala)
c.4745A>C (p.Glu1582Ala)
c.4670A>C (p.Glu1557Ala)
c.4568A>C (p.Glu1523Ala)
c.4199A>C (p.Glu1400Ala)
 dbSNP
5g.112840642A>GCA16032370APCc.5102A>G (p.Glu1701Gly)
c.*5054A>G (n.*5054A>G)
c.4994A>G (p.Glu1665Gly)
c.5048A>G (p.Glu1683Gly)
c.*4370A>G (n.*4370A>G)
c.230+11670A>G
c.5078A>G (p.Glu1693Gly)
c.4973A>G (p.Glu1658Gly)
c.4964A>G (p.Glu1655Gly)
c.4925A>G (p.Glu1642Gly)
c.4871A>G (p.Glu1624Gly)
c.4775A>G (p.Glu1592Gly)
c.4745A>G (p.Glu1582Gly)
c.4670A>G (p.Glu1557Gly)
c.4568A>G (p.Glu1523Gly)
c.4199A>G (p.Glu1400Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840642A>TCA16032371APCc.5102A>T (p.Glu1701Val)
c.*5054A>T (n.*5054A>T)
c.4994A>T (p.Glu1665Val)
c.5048A>T (p.Glu1683Val)
c.*4370A>T (n.*4370A>T)
c.230+11670A>T
c.5078A>T (p.Glu1693Val)
c.4973A>T (p.Glu1658Val)
c.4964A>T (p.Glu1655Val)
c.4925A>T (p.Glu1642Val)
c.4871A>T (p.Glu1624Val)
c.4775A>T (p.Glu1592Val)
c.4745A>T (p.Glu1582Val)
c.4670A>T (p.Glu1557Val)
c.4568A>T (p.Glu1523Val)
c.4199A>T (p.Glu1400Val)
 dbSNP
5g.112840643A>CCA16032372APCc.5103A>C (p.Glu1701Asp)
c.*5055A>C (n.*5055A>C)
c.4995A>C (p.Glu1665Asp)
c.5049A>C (p.Glu1683Asp)
c.*4371A>C (n.*4371A>C)
c.230+11671A>C
c.5079A>C (p.Glu1693Asp)
c.4974A>C (p.Glu1658Asp)
c.4965A>C (p.Glu1655Asp)
c.4926A>C (p.Glu1642Asp)
c.4872A>C (p.Glu1624Asp)
c.4776A>C (p.Glu1592Asp)
c.4746A>C (p.Glu1582Asp)
c.4671A>C (p.Glu1557Asp)
c.4569A>C (p.Glu1523Asp)
c.4200A>C (p.Glu1400Asp)
5g.112840643A>GCA446209540APCc.5103A>G (p.Glu1701=)
c.*5055A>G (n.*5055A>G)
c.4995A>G (p.Glu1665=)
c.5049A>G (p.Glu1683=)
c.*4371A>G (n.*4371A>G)
c.230+11671A>G
c.5079A>G (p.Glu1693=)
c.4974A>G (p.Glu1658=)
c.4965A>G (p.Glu1655=)
c.4926A>G (p.Glu1642=)
c.4872A>G (p.Glu1624=)
c.4776A>G (p.Glu1592=)
c.4746A>G (p.Glu1582=)
c.4671A>G (p.Glu1557=)
c.4569A>G (p.Glu1523=)
c.4200A>G (p.Glu1400=)
5g.112840643A>TCA16032373APCc.5103A>T (p.Glu1701Asp)
c.*5055A>T (n.*5055A>T)
c.4995A>T (p.Glu1665Asp)
c.5049A>T (p.Glu1683Asp)
c.*4371A>T (n.*4371A>T)
c.230+11671A>T
c.5079A>T (p.Glu1693Asp)
c.4974A>T (p.Glu1658Asp)
c.4965A>T (p.Glu1655Asp)
c.4926A>T (p.Glu1642Asp)
c.4872A>T (p.Glu1624Asp)
c.4776A>T (p.Glu1592Asp)
c.4746A>T (p.Glu1582Asp)
c.4671A>T (p.Glu1557Asp)
c.4569A>T (p.Glu1523Asp)
c.4200A>T (p.Glu1400Asp)
5g.112840644T>ACA16032374APCc.5104T>A (p.Phe1702Ile)
c.*5056T>A (n.*5056T>A)
c.4996T>A (p.Phe1666Ile)
c.5050T>A (p.Phe1684Ile)
c.*4372T>A (n.*4372T>A)
c.230+11672T>A
c.5080T>A (p.Phe1694Ile)
c.4975T>A (p.Phe1659Ile)
c.4966T>A (p.Phe1656Ile)
c.4927T>A (p.Phe1643Ile)
c.4873T>A (p.Phe1625Ile)
c.4777T>A (p.Phe1593Ile)
c.4747T>A (p.Phe1583Ile)
c.4672T>A (p.Phe1558Ile)
c.4570T>A (p.Phe1524Ile)
c.4201T>A (p.Phe1401Ile)
 dbSNP
5g.112840644T>CCA10618781APCc.5104T>C (p.Phe1702Leu)
c.*5056T>C (n.*5056T>C)
c.4996T>C (p.Phe1666Leu)
c.5050T>C (p.Phe1684Leu)
c.*4372T>C (n.*4372T>C)
c.230+11672T>C
c.5080T>C (p.Phe1694Leu)
c.4975T>C (p.Phe1659Leu)
c.4966T>C (p.Phe1656Leu)
c.4927T>C (p.Phe1643Leu)
c.4873T>C (p.Phe1625Leu)
c.4777T>C (p.Phe1593Leu)
c.4747T>C (p.Phe1583Leu)
c.4672T>C (p.Phe1558Leu)
c.4570T>C (p.Phe1524Leu)
c.4201T>C (p.Phe1401Leu)
 ClinVar dbSNP gnomAD v4
5g.112840644T>GCA16032375APCc.5104T>G (p.Phe1702Val)
c.*5056T>G (n.*5056T>G)
c.4996T>G (p.Phe1666Val)
c.5050T>G (p.Phe1684Val)
c.*4372T>G (n.*4372T>G)
c.230+11672T>G
c.5080T>G (p.Phe1694Val)
c.4975T>G (p.Phe1659Val)
c.4966T>G (p.Phe1656Val)
c.4927T>G (p.Phe1643Val)
c.4873T>G (p.Phe1625Val)
c.4777T>G (p.Phe1593Val)
c.4747T>G (p.Phe1583Val)
c.4672T>G (p.Phe1558Val)
c.4570T>G (p.Phe1524Val)
c.4201T>G (p.Phe1401Val)
 dbSNP
5g.112840644T=CA1573473451APCc.5104T= (p.Phe1702=)
c.*5056T= (n.*5056T=)
c.4996T= (p.Phe1666=)
c.5050T= (p.Phe1684=)
c.*4372T= (n.*4372T=)
c.230+11672T=
c.5080T= (p.Phe1694=)
c.4975T= (p.Phe1659=)
c.4966T= (p.Phe1656=)
c.4927T= (p.Phe1643=)
c.4873T= (p.Phe1625=)
c.4777T= (p.Phe1593=)
c.4747T= (p.Phe1583=)
c.4672T= (p.Phe1558=)
c.4570T= (p.Phe1524=)
c.4201T= (p.Phe1401=)
5g.112840645T>ACA16032376APCc.5105T>A (p.Phe1702Tyr)
c.*5057T>A (n.*5057T>A)
c.4997T>A (p.Phe1666Tyr)
c.5051T>A (p.Phe1684Tyr)
c.*4373T>A (n.*4373T>A)
c.230+11673T>A
c.5081T>A (p.Phe1694Tyr)
c.4976T>A (p.Phe1659Tyr)
c.4967T>A (p.Phe1656Tyr)
c.4928T>A (p.Phe1643Tyr)
c.4874T>A (p.Phe1625Tyr)
c.4778T>A (p.Phe1593Tyr)
c.4748T>A (p.Phe1583Tyr)
c.4673T>A (p.Phe1558Tyr)
c.4571T>A (p.Phe1524Tyr)
c.4202T>A (p.Phe1401Tyr)
 ClinVar dbSNP
5g.112840645T>CCA16032377APCc.5105T>C (p.Phe1702Ser)
c.*5057T>C (n.*5057T>C)
c.4997T>C (p.Phe1666Ser)
c.5051T>C (p.Phe1684Ser)
c.*4373T>C (n.*4373T>C)
c.230+11673T>C
c.5081T>C (p.Phe1694Ser)
c.4976T>C (p.Phe1659Ser)
c.4967T>C (p.Phe1656Ser)
c.4928T>C (p.Phe1643Ser)
c.4874T>C (p.Phe1625Ser)
c.4778T>C (p.Phe1593Ser)
c.4748T>C (p.Phe1583Ser)
c.4673T>C (p.Phe1558Ser)
c.4571T>C (p.Phe1524Ser)
c.4202T>C (p.Phe1401Ser)
 ClinVar dbSNP gnomAD v4
5g.112840645T>GCA16032378APCc.5105T>G (p.Phe1702Cys)
c.*5057T>G (n.*5057T>G)
c.4997T>G (p.Phe1666Cys)
c.5051T>G (p.Phe1684Cys)
c.*4373T>G (n.*4373T>G)
c.230+11673T>G
c.5081T>G (p.Phe1694Cys)
c.4976T>G (p.Phe1659Cys)
c.4967T>G (p.Phe1656Cys)
c.4928T>G (p.Phe1643Cys)
c.4874T>G (p.Phe1625Cys)
c.4778T>G (p.Phe1593Cys)
c.4748T>G (p.Phe1583Cys)
c.4673T>G (p.Phe1558Cys)
c.4571T>G (p.Phe1524Cys)
c.4202T>G (p.Phe1401Cys)
5g.112840645T=CA1573473473APCc.5105T= (p.Phe1702=)
c.*5057T= (n.*5057T=)
c.4997T= (p.Phe1666=)
c.5051T= (p.Phe1684=)
c.*4373T= (n.*4373T=)
c.230+11673T=
c.5081T= (p.Phe1694=)
c.4976T= (p.Phe1659=)
c.4967T= (p.Phe1656=)
c.4928T= (p.Phe1643=)
c.4874T= (p.Phe1625=)
c.4778T= (p.Phe1593=)
c.4748T= (p.Phe1583=)
c.4673T= (p.Phe1558=)
c.4571T= (p.Phe1524=)
c.4202T= (p.Phe1401=)
5g.112840646T>ACA16032379APCc.5106T>A (p.Phe1702Leu)
c.*5058T>A (n.*5058T>A)
c.4998T>A (p.Phe1666Leu)
c.5052T>A (p.Phe1684Leu)
c.*4374T>A (n.*4374T>A)
c.230+11674T>A
c.5082T>A (p.Phe1694Leu)
c.4977T>A (p.Phe1659Leu)
c.4968T>A (p.Phe1656Leu)
c.4929T>A (p.Phe1643Leu)
c.4875T>A (p.Phe1625Leu)
c.4779T>A (p.Phe1593Leu)
c.4749T>A (p.Phe1583Leu)
c.4674T>A (p.Phe1558Leu)
c.4572T>A (p.Phe1524Leu)
c.4203T>A (p.Phe1401Leu)
 dbSNP
5g.112840646T>CCA446209541APCc.5106T>C (p.Phe1702=)
c.*5058T>C (n.*5058T>C)
c.4998T>C (p.Phe1666=)
c.5052T>C (p.Phe1684=)
c.*4374T>C (n.*4374T>C)
c.230+11674T>C
c.5082T>C (p.Phe1694=)
c.4977T>C (p.Phe1659=)
c.4968T>C (p.Phe1656=)
c.4929T>C (p.Phe1643=)
c.4875T>C (p.Phe1625=)
c.4779T>C (p.Phe1593=)
c.4749T>C (p.Phe1583=)
c.4674T>C (p.Phe1558=)
c.4572T>C (p.Phe1524=)
c.4203T>C (p.Phe1401=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840646T>GCA16032380APCc.5106T>G (p.Phe1702Leu)
c.*5058T>G (n.*5058T>G)
c.4998T>G (p.Phe1666Leu)
c.5052T>G (p.Phe1684Leu)
c.*4374T>G (n.*4374T>G)
c.230+11674T>G
c.5082T>G (p.Phe1694Leu)
c.4977T>G (p.Phe1659Leu)
c.4968T>G (p.Phe1656Leu)
c.4929T>G (p.Phe1643Leu)
c.4875T>G (p.Phe1625Leu)
c.4779T>G (p.Phe1593Leu)
c.4749T>G (p.Phe1583Leu)
c.4674T>G (p.Phe1558Leu)
c.4572T>G (p.Phe1524Leu)
c.4203T>G (p.Phe1401Leu)
5g.112840646T=CA1573473498APCc.5106T= (p.Phe1702=)
c.*5058T= (n.*5058T=)
c.4998T= (p.Phe1666=)
c.5052T= (p.Phe1684=)
c.*4374T= (n.*4374T=)
c.230+11674T=
c.5082T= (p.Phe1694=)
c.4977T= (p.Phe1659=)
c.4968T= (p.Phe1656=)
c.4929T= (p.Phe1643=)
c.4875T= (p.Phe1625=)
c.4779T= (p.Phe1593=)
c.4749T= (p.Phe1583=)
c.4674T= (p.Phe1558=)
c.4572T= (p.Phe1524=)
c.4203T= (p.Phe1401=)
5g.112840647G>ACA16032381APCc.5107G>A (p.Glu1703Lys)
c.*5059G>A (n.*5059G>A)
c.4999G>A (p.Glu1667Lys)
c.5053G>A (p.Glu1685Lys)
c.*4375G>A (n.*4375G>A)
c.230+11675G>A
c.5083G>A (p.Glu1695Lys)
c.4978G>A (p.Glu1660Lys)
c.4969G>A (p.Glu1657Lys)
c.4930G>A (p.Glu1644Lys)
c.4876G>A (p.Glu1626Lys)
c.4780G>A (p.Glu1594Lys)
c.4750G>A (p.Glu1584Lys)
c.4675G>A (p.Glu1559Lys)
c.4573G>A (p.Glu1525Lys)
c.4204G>A (p.Glu1402Lys)
 ClinVar
5g.112840647G>CCA16032382APCc.5107G>C (p.Glu1703Gln)
c.*5059G>C (n.*5059G>C)
c.4999G>C (p.Glu1667Gln)
c.5053G>C (p.Glu1685Gln)
c.*4375G>C (n.*4375G>C)
c.230+11675G>C
c.5083G>C (p.Glu1695Gln)
c.4978G>C (p.Glu1660Gln)
c.4969G>C (p.Glu1657Gln)
c.4930G>C (p.Glu1644Gln)
c.4876G>C (p.Glu1626Gln)
c.4780G>C (p.Glu1594Gln)
c.4750G>C (p.Glu1584Gln)
c.4675G>C (p.Glu1559Gln)
c.4573G>C (p.Glu1525Gln)
c.4204G>C (p.Glu1402Gln)
5g.112840647G>TCA16032383APCc.5107G>T (p.Glu1703Ter)
c.*5059G>T (n.*5059G>T)
c.4999G>T (p.Glu1667Ter)
c.5053G>T (p.Glu1685Ter)
c.*4375G>T (n.*4375G>T)
c.230+11675G>T
c.5083G>T (p.Glu1695Ter)
c.4978G>T (p.Glu1660Ter)
c.4969G>T (p.Glu1657Ter)
c.4930G>T (p.Glu1644Ter)
c.4876G>T (p.Glu1626Ter)
c.4780G>T (p.Glu1594Ter)
c.4750G>T (p.Glu1584Ter)
c.4675G>T (p.Glu1559Ter)
c.4573G>T (p.Glu1525Ter)
c.4204G>T (p.Glu1402Ter)
5g.112840648A=CA1573473504APCc.5108A= (p.Glu1703=)
c.*5060A= (n.*5060A=)
c.5000A= (p.Glu1667=)
c.5054A= (p.Glu1685=)
c.*4376A= (n.*4376A=)
c.230+11676A=
c.5084A= (p.Glu1695=)
c.4979A= (p.Glu1660=)
c.4970A= (p.Glu1657=)
c.4931A= (p.Glu1644=)
c.4877A= (p.Glu1626=)
c.4781A= (p.Glu1594=)
c.4751A= (p.Glu1584=)
c.4676A= (p.Glu1559=)
c.4574A= (p.Glu1525=)
c.4205A= (p.Glu1402=)
5g.112840648A>CCA16032384APCc.5108A>C (p.Glu1703Ala)
c.*5060A>C (n.*5060A>C)
c.5000A>C (p.Glu1667Ala)
c.5054A>C (p.Glu1685Ala)
c.*4376A>C (n.*4376A>C)
c.230+11676A>C
c.5084A>C (p.Glu1695Ala)
c.4979A>C (p.Glu1660Ala)
c.4970A>C (p.Glu1657Ala)
c.4931A>C (p.Glu1644Ala)
c.4877A>C (p.Glu1626Ala)
c.4781A>C (p.Glu1594Ala)
c.4751A>C (p.Glu1584Ala)
c.4676A>C (p.Glu1559Ala)
c.4574A>C (p.Glu1525Ala)
c.4205A>C (p.Glu1402Ala)
 dbSNP
5g.112840648A>GCA16032385APCc.5108A>G (p.Glu1703Gly)
c.*5060A>G (n.*5060A>G)
c.5000A>G (p.Glu1667Gly)
c.5054A>G (p.Glu1685Gly)
c.*4376A>G (n.*4376A>G)
c.230+11676A>G
c.5084A>G (p.Glu1695Gly)
c.4979A>G (p.Glu1660Gly)
c.4970A>G (p.Glu1657Gly)
c.4931A>G (p.Glu1644Gly)
c.4877A>G (p.Glu1626Gly)
c.4781A>G (p.Glu1594Gly)
c.4751A>G (p.Glu1584Gly)
c.4676A>G (p.Glu1559Gly)
c.4574A>G (p.Glu1525Gly)
c.4205A>G (p.Glu1402Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840648A>TCA16032386APCc.5108A>T (p.Glu1703Val)
c.*5060A>T (n.*5060A>T)
c.5000A>T (p.Glu1667Val)
c.5054A>T (p.Glu1685Val)
c.*4376A>T (n.*4376A>T)
c.230+11676A>T
c.5084A>T (p.Glu1695Val)
c.4979A>T (p.Glu1660Val)
c.4970A>T (p.Glu1657Val)
c.4931A>T (p.Glu1644Val)
c.4877A>T (p.Glu1626Val)
c.4781A>T (p.Glu1594Val)
c.4751A>T (p.Glu1584Val)
c.4676A>T (p.Glu1559Val)
c.4574A>T (p.Glu1525Val)
c.4205A>T (p.Glu1402Val)
 dbSNP
5g.112840652dupCA2582341417APCc.5112dup (p.Arg1705ThrfsTer13)
c.*5064dup (n.*5064dup)
c.5004dup (p.Arg1669ThrfsTer13)
c.5058dup (p.Arg1687ThrfsTer13)
c.*4380dup (n.*4380dup)
c.230+11680dup
c.5088dup (p.Arg1697ThrfsTer13)
c.4983dup (p.Arg1662ThrfsTer13)
c.4974dup (p.Arg1659ThrfsTer13)
c.4935dup (p.Arg1646ThrfsTer13)
c.4881dup (p.Arg1628ThrfsTer13)
c.4785dup (p.Arg1596ThrfsTer13)
c.4755dup (p.Arg1586ThrfsTer13)
c.4680dup (p.Arg1561ThrfsTer13)
c.4578dup (p.Arg1527ThrfsTer13)
c.4209dup (p.Arg1404ThrfsTer13)
 ClinVar
5g.112840649_112840652dupCA2767942008APCc.5109_5112dup (p.Arg1705LysfsTer14)
c.*5061_*5064dup (n.*5061_*5064dup)
c.5001_5004dup (p.Arg1669LysfsTer14)
c.5055_5058dup (p.Arg1687LysfsTer14)
c.*4377_*4380dup (n.*4377_*4380dup)
c.230+11677_230+11680dup
c.5085_5088dup (p.Arg1697LysfsTer14)
c.4980_4983dup (p.Arg1662LysfsTer14)
c.4971_4974dup (p.Arg1659LysfsTer14)
c.4932_4935dup (p.Arg1646LysfsTer14)
c.4878_4881dup (p.Arg1628LysfsTer14)
c.4782_4785dup (p.Arg1596LysfsTer14)
c.4752_4755dup (p.Arg1586LysfsTer14)
c.4677_4680dup (p.Arg1561LysfsTer14)
c.4575_4578dup (p.Arg1527LysfsTer14)
c.4206_4209dup (p.Arg1404LysfsTer14)
5g.112840649A=CA1573473511APCc.5109A= (p.Glu1703=)
c.*5061A= (n.*5061A=)
c.5001A= (p.Glu1667=)
c.5055A= (p.Glu1685=)
c.*4377A= (n.*4377A=)
c.230+11677A=
c.5085A= (p.Glu1695=)
c.4980A= (p.Glu1660=)
c.4971A= (p.Glu1657=)
c.4932A= (p.Glu1644=)
c.4878A= (p.Glu1626=)
c.4782A= (p.Glu1594=)
c.4752A= (p.Glu1584=)
c.4677A= (p.Glu1559=)
c.4575A= (p.Glu1525=)
c.4206A= (p.Glu1402=)
5g.112840649A>CCA16032387APCc.5109A>C (p.Glu1703Asp)
c.*5061A>C (n.*5061A>C)
c.5001A>C (p.Glu1667Asp)
c.5055A>C (p.Glu1685Asp)
c.*4377A>C (n.*4377A>C)
c.230+11677A>C
c.5085A>C (p.Glu1695Asp)
c.4980A>C (p.Glu1660Asp)
c.4971A>C (p.Glu1657Asp)
c.4932A>C (p.Glu1644Asp)
c.4878A>C (p.Glu1626Asp)
c.4782A>C (p.Glu1594Asp)
c.4752A>C (p.Glu1584Asp)
c.4677A>C (p.Glu1559Asp)
c.4575A>C (p.Glu1525Asp)
c.4206A>C (p.Glu1402Asp)
5g.112840649A>GCA446209542APCc.5109A>G (p.Glu1703=)
c.*5061A>G (n.*5061A>G)
c.5001A>G (p.Glu1667=)
c.5055A>G (p.Glu1685=)
c.*4377A>G (n.*4377A>G)
c.230+11677A>G
c.5085A>G (p.Glu1695=)
c.4980A>G (p.Glu1660=)
c.4971A>G (p.Glu1657=)
c.4932A>G (p.Glu1644=)
c.4878A>G (p.Glu1626=)
c.4782A>G (p.Glu1594=)
c.4752A>G (p.Glu1584=)
c.4677A>G (p.Glu1559=)
c.4575A>G (p.Glu1525=)
c.4206A>G (p.Glu1402=)
 dbSNP
5g.112840649A>TCA16032388APCc.5109A>T (p.Glu1703Asp)
c.*5061A>T (n.*5061A>T)
c.5001A>T (p.Glu1667Asp)
c.5055A>T (p.Glu1685Asp)
c.*4377A>T (n.*4377A>T)
c.230+11677A>T
c.5085A>T (p.Glu1695Asp)
c.4980A>T (p.Glu1660Asp)
c.4971A>T (p.Glu1657Asp)
c.4932A>T (p.Glu1644Asp)
c.4878A>T (p.Glu1626Asp)
c.4782A>T (p.Glu1594Asp)
c.4752A>T (p.Glu1584Asp)
c.4677A>T (p.Glu1559Asp)
c.4575A>T (p.Glu1525Asp)
c.4206A>T (p.Glu1402Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840650A>CCA16032389APCc.5110A>C (p.Lys1704Gln)
c.*5062A>C (n.*5062A>C)
c.5002A>C (p.Lys1668Gln)
c.5056A>C (p.Lys1686Gln)
c.*4378A>C (n.*4378A>C)
c.230+11678A>C
c.5086A>C (p.Lys1696Gln)
c.4981A>C (p.Lys1661Gln)
c.4972A>C (p.Lys1658Gln)
c.4933A>C (p.Lys1645Gln)
c.4879A>C (p.Lys1627Gln)
c.4783A>C (p.Lys1595Gln)
c.4753A>C (p.Lys1585Gln)
c.4678A>C (p.Lys1560Gln)
c.4576A>C (p.Lys1526Gln)
c.4207A>C (p.Lys1403Gln)
5g.112840650A>GCA16032390APCc.5110A>G (p.Lys1704Glu)
c.*5062A>G (n.*5062A>G)
c.5002A>G (p.Lys1668Glu)
c.5056A>G (p.Lys1686Glu)
c.*4378A>G (n.*4378A>G)
c.230+11678A>G
c.5086A>G (p.Lys1696Glu)
c.4981A>G (p.Lys1661Glu)
c.4972A>G (p.Lys1658Glu)
c.4933A>G (p.Lys1645Glu)
c.4879A>G (p.Lys1627Glu)
c.4783A>G (p.Lys1595Glu)
c.4753A>G (p.Lys1585Glu)
c.4678A>G (p.Lys1560Glu)
c.4576A>G (p.Lys1526Glu)
c.4207A>G (p.Lys1403Glu)
 gnomAD v4
5g.112840650A>TCA16032391APCc.5110A>T (p.Lys1704Ter)
c.*5062A>T (n.*5062A>T)
c.5002A>T (p.Lys1668Ter)
c.5056A>T (p.Lys1686Ter)
c.*4378A>T (n.*4378A>T)
c.230+11678A>T
c.5086A>T (p.Lys1696Ter)
c.4981A>T (p.Lys1661Ter)
c.4972A>T (p.Lys1658Ter)
c.4933A>T (p.Lys1645Ter)
c.4879A>T (p.Lys1627Ter)
c.4783A>T (p.Lys1595Ter)
c.4753A>T (p.Lys1585Ter)
c.4678A>T (p.Lys1560Ter)
c.4576A>T (p.Lys1526Ter)
c.4207A>T (p.Lys1403Ter)
 dbSNP
5g.112840651A>CCA16032392APCc.5111A>C (p.Lys1704Thr)
c.*5063A>C (n.*5063A>C)
c.5003A>C (p.Lys1668Thr)
c.5057A>C (p.Lys1686Thr)
c.*4379A>C (n.*4379A>C)
c.230+11679A>C
c.5087A>C (p.Lys1696Thr)
c.4982A>C (p.Lys1661Thr)
c.4973A>C (p.Lys1658Thr)
c.4934A>C (p.Lys1645Thr)
c.4880A>C (p.Lys1627Thr)
c.4784A>C (p.Lys1595Thr)
c.4754A>C (p.Lys1585Thr)
c.4679A>C (p.Lys1560Thr)
c.4577A>C (p.Lys1526Thr)
c.4208A>C (p.Lys1403Thr)
 dbSNP
5g.112840651A>GCA16032393APCc.5111A>G (p.Lys1704Arg)
c.*5063A>G (n.*5063A>G)
c.5003A>G (p.Lys1668Arg)
c.5057A>G (p.Lys1686Arg)
c.*4379A>G (n.*4379A>G)
c.230+11679A>G
c.5087A>G (p.Lys1696Arg)
c.4982A>G (p.Lys1661Arg)
c.4973A>G (p.Lys1658Arg)
c.4934A>G (p.Lys1645Arg)
c.4880A>G (p.Lys1627Arg)
c.4784A>G (p.Lys1595Arg)
c.4754A>G (p.Lys1585Arg)
c.4679A>G (p.Lys1560Arg)
c.4577A>G (p.Lys1526Arg)
c.4208A>G (p.Lys1403Arg)
 dbSNP
5g.112840651A>TCA16032394APCc.5111A>T (p.Lys1704Ile)
c.*5063A>T (n.*5063A>T)
c.5003A>T (p.Lys1668Ile)
c.5057A>T (p.Lys1686Ile)
c.*4379A>T (n.*4379A>T)
c.230+11679A>T
c.5087A>T (p.Lys1696Ile)
c.4982A>T (p.Lys1661Ile)
c.4973A>T (p.Lys1658Ile)
c.4934A>T (p.Lys1645Ile)
c.4880A>T (p.Lys1627Ile)
c.4784A>T (p.Lys1595Ile)
c.4754A>T (p.Lys1585Ile)
c.4679A>T (p.Lys1560Ile)
c.4577A>T (p.Lys1526Ile)
c.4208A>T (p.Lys1403Ile)
 ClinVar dbSNP
5g.112840652A>CCA16032395APCc.5112A>C (p.Lys1704Asn)
c.*5064A>C (n.*5064A>C)
c.5004A>C (p.Lys1668Asn)
c.5058A>C (p.Lys1686Asn)
c.*4380A>C (n.*4380A>C)
c.230+11680A>C
c.5088A>C (p.Lys1696Asn)
c.4983A>C (p.Lys1661Asn)
c.4974A>C (p.Lys1658Asn)
c.4935A>C (p.Lys1645Asn)
c.4881A>C (p.Lys1627Asn)
c.4785A>C (p.Lys1595Asn)
c.4755A>C (p.Lys1585Asn)
c.4680A>C (p.Lys1560Asn)
c.4578A>C (p.Lys1526Asn)
c.4209A>C (p.Lys1403Asn)
 dbSNP
5g.112840652A>GCA446209543APCc.5112A>G (p.Lys1704=)
c.*5064A>G (n.*5064A>G)
c.5004A>G (p.Lys1668=)
c.5058A>G (p.Lys1686=)
c.*4380A>G (n.*4380A>G)
c.230+11680A>G
c.5088A>G (p.Lys1696=)
c.4983A>G (p.Lys1661=)
c.4974A>G (p.Lys1658=)
c.4935A>G (p.Lys1645=)
c.4881A>G (p.Lys1627=)
c.4785A>G (p.Lys1595=)
c.4755A>G (p.Lys1585=)
c.4680A>G (p.Lys1560=)
c.4578A>G (p.Lys1526=)
c.4209A>G (p.Lys1403=)
 dbSNP
5g.112840652A>TCA16032396APCc.5112A>T (p.Lys1704Asn)
c.*5064A>T (n.*5064A>T)
c.5004A>T (p.Lys1668Asn)
c.5058A>T (p.Lys1686Asn)
c.*4380A>T (n.*4380A>T)
c.230+11680A>T
c.5088A>T (p.Lys1696Asn)
c.4983A>T (p.Lys1661Asn)
c.4974A>T (p.Lys1658Asn)
c.4935A>T (p.Lys1645Asn)
c.4881A>T (p.Lys1627Asn)
c.4785A>T (p.Lys1595Asn)
c.4755A>T (p.Lys1585Asn)
c.4680A>T (p.Lys1560Asn)
c.4578A>T (p.Lys1526Asn)
c.4209A>T (p.Lys1403Asn)
 dbSNP
5g.112840653C>ACA446209544APCc.5113C>A (p.Arg1705=)
c.*5065C>A (n.*5065C>A)
c.5005C>A (p.Arg1669=)
c.5059C>A (p.Arg1687=)
c.*4381C>A (n.*4381C>A)
c.230+11681C>A
c.5089C>A (p.Arg1697=)
c.4984C>A (p.Arg1662=)
c.4975C>A (p.Arg1659=)
c.4936C>A (p.Arg1646=)
c.4882C>A (p.Arg1628=)
c.4786C>A (p.Arg1596=)
c.4756C>A (p.Arg1586=)
c.4681C>A (p.Arg1561=)
c.4579C>A (p.Arg1527=)
c.4210C>A (p.Arg1404=)
 dbSNP
5g.112840653C=CA1573473520APCc.5113C= (p.Arg1705=)
c.*5065C= (n.*5065C=)
c.5005C= (p.Arg1669=)
c.5059C= (p.Arg1687=)
c.*4381C= (n.*4381C=)
c.230+11681C=
c.5089C= (p.Arg1697=)
c.4984C= (p.Arg1662=)
c.4975C= (p.Arg1659=)
c.4936C= (p.Arg1646=)
c.4882C= (p.Arg1628=)
c.4786C= (p.Arg1596=)
c.4756C= (p.Arg1586=)
c.4681C= (p.Arg1561=)
c.4579C= (p.Arg1527=)
c.4210C= (p.Arg1404=)
5g.112840653C>GCA16032397APCc.5113C>G (p.Arg1705Gly)
c.*5065C>G (n.*5065C>G)
c.5005C>G (p.Arg1669Gly)
c.5059C>G (p.Arg1687Gly)
c.*4381C>G (n.*4381C>G)
c.230+11681C>G
c.5089C>G (p.Arg1697Gly)
c.4984C>G (p.Arg1662Gly)
c.4975C>G (p.Arg1659Gly)
c.4936C>G (p.Arg1646Gly)
c.4882C>G (p.Arg1628Gly)
c.4786C>G (p.Arg1596Gly)
c.4756C>G (p.Arg1586Gly)
c.4681C>G (p.Arg1561Gly)
c.4579C>G (p.Arg1527Gly)
c.4210C>G (p.Arg1404Gly)
 dbSNP
5g.112840653C>TCA16032398APCc.5113C>T (p.Arg1705Ter)
c.*5065C>T (n.*5065C>T)
c.5005C>T (p.Arg1669Ter)
c.5059C>T (p.Arg1687Ter)
c.*4381C>T (n.*4381C>T)
c.230+11681C>T
c.5089C>T (p.Arg1697Ter)
c.4984C>T (p.Arg1662Ter)
c.4975C>T (p.Arg1659Ter)
c.4936C>T (p.Arg1646Ter)
c.4882C>T (p.Arg1628Ter)
c.4786C>T (p.Arg1596Ter)
c.4756C>T (p.Arg1586Ter)
c.4681C>T (p.Arg1561Ter)
c.4579C>T (p.Arg1527Ter)
c.4210C>T (p.Arg1404Ter)
 ClinVar dbSNP
5g.112840654G>ACA040507APCc.5114G>A (p.Arg1705Gln)
c.*5066G>A (n.*5066G>A)
c.5006G>A (p.Arg1669Gln)
c.5060G>A (p.Arg1687Gln)
c.*4382G>A (n.*4382G>A)
c.230+11682G>A
c.5090G>A (p.Arg1697Gln)
c.4985G>A (p.Arg1662Gln)
c.4976G>A (p.Arg1659Gln)
c.4937G>A (p.Arg1646Gln)
c.4883G>A (p.Arg1628Gln)
c.4787G>A (p.Arg1596Gln)
c.4757G>A (p.Arg1586Gln)
c.4682G>A (p.Arg1561Gln)
c.4580G>A (p.Arg1527Gln)
c.4211G>A (p.Arg1404Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840654G>CCA16032399APCc.5114G>C (p.Arg1705Pro)
c.*5066G>C (n.*5066G>C)
c.5006G>C (p.Arg1669Pro)
c.5060G>C (p.Arg1687Pro)
c.*4382G>C (n.*4382G>C)
c.230+11682G>C
c.5090G>C (p.Arg1697Pro)
c.4985G>C (p.Arg1662Pro)
c.4976G>C (p.Arg1659Pro)
c.4937G>C (p.Arg1646Pro)
c.4883G>C (p.Arg1628Pro)
c.4787G>C (p.Arg1596Pro)
c.4757G>C (p.Arg1586Pro)
c.4682G>C (p.Arg1561Pro)
c.4580G>C (p.Arg1527Pro)
c.4211G>C (p.Arg1404Pro)
5g.112840654G=CA1573473524APCc.5114G= (p.Arg1705=)
c.*5066G= (n.*5066G=)
c.5006G= (p.Arg1669=)
c.5060G= (p.Arg1687=)
c.*4382G= (n.*4382G=)
c.230+11682G=
c.5090G= (p.Arg1697=)
c.4985G= (p.Arg1662=)
c.4976G= (p.Arg1659=)
c.4937G= (p.Arg1646=)
c.4883G= (p.Arg1628=)
c.4787G= (p.Arg1596=)
c.4757G= (p.Arg1586=)
c.4682G= (p.Arg1561=)
c.4580G= (p.Arg1527=)
c.4211G= (p.Arg1404=)
5g.112840654G>TCA16032400APCc.5114G>T (p.Arg1705Leu)
c.*5066G>T (n.*5066G>T)
c.5006G>T (p.Arg1669Leu)
c.5060G>T (p.Arg1687Leu)
c.*4382G>T (n.*4382G>T)
c.230+11682G>T
c.5090G>T (p.Arg1697Leu)
c.4985G>T (p.Arg1662Leu)
c.4976G>T (p.Arg1659Leu)
c.4937G>T (p.Arg1646Leu)
c.4883G>T (p.Arg1628Leu)
c.4787G>T (p.Arg1596Leu)
c.4757G>T (p.Arg1586Leu)
c.4682G>T (p.Arg1561Leu)
c.4580G>T (p.Arg1527Leu)
c.4211G>T (p.Arg1404Leu)
5g.112840655A>CCA446209545APCc.5115A>C (p.Arg1705=)
c.*5067A>C (n.*5067A>C)
c.5007A>C (p.Arg1669=)
c.5061A>C (p.Arg1687=)
c.*4383A>C (n.*4383A>C)
c.230+11683A>C
c.5091A>C (p.Arg1697=)
c.4986A>C (p.Arg1662=)
c.4977A>C (p.Arg1659=)
c.4938A>C (p.Arg1646=)
c.4884A>C (p.Arg1628=)
c.4788A>C (p.Arg1596=)
c.4758A>C (p.Arg1586=)
c.4683A>C (p.Arg1561=)
c.4581A>C (p.Arg1527=)
c.4212A>C (p.Arg1404=)
 ClinVar
5g.112840655A>GCA446209546APCc.5115A>G (p.Arg1705=)
c.*5067A>G (n.*5067A>G)
c.5007A>G (p.Arg1669=)
c.5061A>G (p.Arg1687=)
c.*4383A>G (n.*4383A>G)
c.230+11683A>G
c.5091A>G (p.Arg1697=)
c.4986A>G (p.Arg1662=)
c.4977A>G (p.Arg1659=)
c.4938A>G (p.Arg1646=)
c.4884A>G (p.Arg1628=)
c.4788A>G (p.Arg1596=)
c.4758A>G (p.Arg1586=)
c.4683A>G (p.Arg1561=)
c.4581A>G (p.Arg1527=)
c.4212A>G (p.Arg1404=)
 ClinVar dbSNP
5g.112840655A>TCA446209547APCc.5115A>T (p.Arg1705=)
c.*5067A>T (n.*5067A>T)
c.5007A>T (p.Arg1669=)
c.5061A>T (p.Arg1687=)
c.*4383A>T (n.*4383A>T)
c.230+11683A>T
c.5091A>T (p.Arg1697=)
c.4986A>T (p.Arg1662=)
c.4977A>T (p.Arg1659=)
c.4938A>T (p.Arg1646=)
c.4884A>T (p.Arg1628=)
c.4788A>T (p.Arg1596=)
c.4758A>T (p.Arg1586=)
c.4683A>T (p.Arg1561=)
c.4581A>T (p.Arg1527=)
c.4212A>T (p.Arg1404=)
 dbSNP
5g.112840656G>ACA16032401APCc.5116G>A (p.Asp1706Asn)
c.*5068G>A (n.*5068G>A)
c.5008G>A (p.Asp1670Asn)
c.5062G>A (p.Asp1688Asn)
c.*4384G>A (n.*4384G>A)
c.230+11684G>A
c.5092G>A (p.Asp1698Asn)
c.4987G>A (p.Asp1663Asn)
c.4978G>A (p.Asp1660Asn)
c.4939G>A (p.Asp1647Asn)
c.4885G>A (p.Asp1629Asn)
c.4789G>A (p.Asp1597Asn)
c.4759G>A (p.Asp1587Asn)
c.4684G>A (p.Asp1562Asn)
c.4582G>A (p.Asp1528Asn)
c.4213G>A (p.Asp1405Asn)
 ClinVar dbSNP
5g.112840656G>CCA16032402APCc.5116G>C (p.Asp1706His)
c.*5068G>C (n.*5068G>C)
c.5008G>C (p.Asp1670His)
c.5062G>C (p.Asp1688His)
c.*4384G>C (n.*4384G>C)
c.230+11684G>C
c.5092G>C (p.Asp1698His)
c.4987G>C (p.Asp1663His)
c.4978G>C (p.Asp1660His)
c.4939G>C (p.Asp1647His)
c.4885G>C (p.Asp1629His)
c.4789G>C (p.Asp1597His)
c.4759G>C (p.Asp1587His)
c.4684G>C (p.Asp1562His)
c.4582G>C (p.Asp1528His)
c.4213G>C (p.Asp1405His)
 dbSNP
5g.112840656G=CA1573473528APCc.5116G= (p.Asp1706=)
c.*5068G= (n.*5068G=)
c.5008G= (p.Asp1670=)
c.5062G= (p.Asp1688=)
c.*4384G= (n.*4384G=)
c.230+11684G=
c.5092G= (p.Asp1698=)
c.4987G= (p.Asp1663=)
c.4978G= (p.Asp1660=)
c.4939G= (p.Asp1647=)
c.4885G= (p.Asp1629=)
c.4789G= (p.Asp1597=)
c.4759G= (p.Asp1587=)
c.4684G= (p.Asp1562=)
c.4582G= (p.Asp1528=)
c.4213G= (p.Asp1405=)
5g.112840656G>TCA16032403APCc.5116G>T (p.Asp1706Tyr)
c.*5068G>T (n.*5068G>T)
c.5008G>T (p.Asp1670Tyr)
c.5062G>T (p.Asp1688Tyr)
c.*4384G>T (n.*4384G>T)
c.230+11684G>T
c.5092G>T (p.Asp1698Tyr)
c.4987G>T (p.Asp1663Tyr)
c.4978G>T (p.Asp1660Tyr)
c.4939G>T (p.Asp1647Tyr)
c.4885G>T (p.Asp1629Tyr)
c.4789G>T (p.Asp1597Tyr)
c.4759G>T (p.Asp1587Tyr)
c.4684G>T (p.Asp1562Tyr)
c.4582G>T (p.Asp1528Tyr)
c.4213G>T (p.Asp1405Tyr)
5g.112840657A=CA1573473535APCc.5117A= (p.Asp1706=)
c.*5069A= (n.*5069A=)
c.5009A= (p.Asp1670=)
c.5063A= (p.Asp1688=)
c.*4385A= (n.*4385A=)
c.230+11685A=
c.5093A= (p.Asp1698=)
c.4988A= (p.Asp1663=)
c.4979A= (p.Asp1660=)
c.4940A= (p.Asp1647=)
c.4886A= (p.Asp1629=)
c.4790A= (p.Asp1597=)
c.4760A= (p.Asp1587=)
c.4685A= (p.Asp1562=)
c.4583A= (p.Asp1528=)
c.4214A= (p.Asp1405=)
5g.112840657A>CCA16032404APCc.5117A>C (p.Asp1706Ala)
c.*5069A>C (n.*5069A>C)
c.5009A>C (p.Asp1670Ala)
c.5063A>C (p.Asp1688Ala)
c.*4385A>C (n.*4385A>C)
c.230+11685A>C
c.5093A>C (p.Asp1698Ala)
c.4988A>C (p.Asp1663Ala)
c.4979A>C (p.Asp1660Ala)
c.4940A>C (p.Asp1647Ala)
c.4886A>C (p.Asp1629Ala)
c.4790A>C (p.Asp1597Ala)
c.4760A>C (p.Asp1587Ala)
c.4685A>C (p.Asp1562Ala)
c.4583A>C (p.Asp1528Ala)
c.4214A>C (p.Asp1405Ala)
5g.112840657A>GCA16032405APCc.5117A>G (p.Asp1706Gly)
c.*5069A>G (n.*5069A>G)
c.5009A>G (p.Asp1670Gly)
c.5063A>G (p.Asp1688Gly)
c.*4385A>G (n.*4385A>G)
c.230+11685A>G
c.5093A>G (p.Asp1698Gly)
c.4988A>G (p.Asp1663Gly)
c.4979A>G (p.Asp1660Gly)
c.4940A>G (p.Asp1647Gly)
c.4886A>G (p.Asp1629Gly)
c.4790A>G (p.Asp1597Gly)
c.4760A>G (p.Asp1587Gly)
c.4685A>G (p.Asp1562Gly)
c.4583A>G (p.Asp1528Gly)
c.4214A>G (p.Asp1405Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840657A>TCA16032406APCc.5117A>T (p.Asp1706Val)
c.*5069A>T (n.*5069A>T)
c.5009A>T (p.Asp1670Val)
c.5063A>T (p.Asp1688Val)
c.*4385A>T (n.*4385A>T)
c.230+11685A>T
c.5093A>T (p.Asp1698Val)
c.4988A>T (p.Asp1663Val)
c.4979A>T (p.Asp1660Val)
c.4940A>T (p.Asp1647Val)
c.4886A>T (p.Asp1629Val)
c.4790A>T (p.Asp1597Val)
c.4760A>T (p.Asp1587Val)
c.4685A>T (p.Asp1562Val)
c.4583A>T (p.Asp1528Val)
c.4214A>T (p.Asp1405Val)
 ClinVar dbSNP
5g.112840658T>ACA16032407APCc.5118T>A (p.Asp1706Glu)
c.*5070T>A (n.*5070T>A)
c.5010T>A (p.Asp1670Glu)
c.5064T>A (p.Asp1688Glu)
c.*4386T>A (n.*4386T>A)
c.230+11686T>A
c.5094T>A (p.Asp1698Glu)
c.4989T>A (p.Asp1663Glu)
c.4980T>A (p.Asp1660Glu)
c.4941T>A (p.Asp1647Glu)
c.4887T>A (p.Asp1629Glu)
c.4791T>A (p.Asp1597Glu)
c.4761T>A (p.Asp1587Glu)
c.4686T>A (p.Asp1562Glu)
c.4584T>A (p.Asp1528Glu)
c.4215T>A (p.Asp1405Glu)
5g.112840658T>CCA446209548APCc.5118T>C (p.Asp1706=)
c.*5070T>C (n.*5070T>C)
c.5010T>C (p.Asp1670=)
c.5064T>C (p.Asp1688=)
c.*4386T>C (n.*4386T>C)
c.230+11686T>C
c.5094T>C (p.Asp1698=)
c.4989T>C (p.Asp1663=)
c.4980T>C (p.Asp1660=)
c.4941T>C (p.Asp1647=)
c.4887T>C (p.Asp1629=)
c.4791T>C (p.Asp1597=)
c.4761T>C (p.Asp1587=)
c.4686T>C (p.Asp1562=)
c.4584T>C (p.Asp1528=)
c.4215T>C (p.Asp1405=)
 ClinVar dbSNP gnomAD v2
5g.112840658T>GCA16032408APCc.5118T>G (p.Asp1706Glu)
c.*5070T>G (n.*5070T>G)
c.5010T>G (p.Asp1670Glu)
c.5064T>G (p.Asp1688Glu)
c.*4386T>G (n.*4386T>G)
c.230+11686T>G
c.5094T>G (p.Asp1698Glu)
c.4989T>G (p.Asp1663Glu)
c.4980T>G (p.Asp1660Glu)
c.4941T>G (p.Asp1647Glu)
c.4887T>G (p.Asp1629Glu)
c.4791T>G (p.Asp1597Glu)
c.4761T>G (p.Asp1587Glu)
c.4686T>G (p.Asp1562Glu)
c.4584T>G (p.Asp1528Glu)
c.4215T>G (p.Asp1405Glu)
5g.112840658T=CA1573473540APCc.5118T= (p.Asp1706=)
c.*5070T= (n.*5070T=)
c.5010T= (p.Asp1670=)
c.5064T= (p.Asp1688=)
c.*4386T= (n.*4386T=)
c.230+11686T=
c.5094T= (p.Asp1698=)
c.4989T= (p.Asp1663=)
c.4980T= (p.Asp1660=)
c.4941T= (p.Asp1647=)
c.4887T= (p.Asp1629=)
c.4791T= (p.Asp1597=)
c.4761T= (p.Asp1587=)
c.4686T= (p.Asp1562=)
c.4584T= (p.Asp1528=)
c.4215T= (p.Asp1405=)
5g.112840659A=CA1573473550APCc.5119A= (p.Thr1707=)
c.*5071A= (n.*5071A=)
c.5011A= (p.Thr1671=)
c.5065A= (p.Thr1689=)
c.*4387A= (n.*4387A=)
c.230+11687A=
c.5095A= (p.Thr1699=)
c.4990A= (p.Thr1664=)
c.4981A= (p.Thr1661=)
c.4942A= (p.Thr1648=)
c.4888A= (p.Thr1630=)
c.4792A= (p.Thr1598=)
c.4762A= (p.Thr1588=)
c.4687A= (p.Thr1563=)
c.4585A= (p.Thr1529=)
c.4216A= (p.Thr1406=)
5g.112840659A>CCA16032409APCc.5119A>C (p.Thr1707Pro)
c.*5071A>C (n.*5071A>C)
c.5011A>C (p.Thr1671Pro)
c.5065A>C (p.Thr1689Pro)
c.*4387A>C (n.*4387A>C)
c.230+11687A>C
c.5095A>C (p.Thr1699Pro)
c.4990A>C (p.Thr1664Pro)
c.4981A>C (p.Thr1661Pro)
c.4942A>C (p.Thr1648Pro)
c.4888A>C (p.Thr1630Pro)
c.4792A>C (p.Thr1598Pro)
c.4762A>C (p.Thr1588Pro)
c.4687A>C (p.Thr1563Pro)
c.4585A>C (p.Thr1529Pro)
c.4216A>C (p.Thr1406Pro)
5g.112840659A>GCA040527APCc.5119A>G (p.Thr1707Ala)
c.*5071A>G (n.*5071A>G)
c.5011A>G (p.Thr1671Ala)
c.5065A>G (p.Thr1689Ala)
c.*4387A>G (n.*4387A>G)
c.230+11687A>G
c.5095A>G (p.Thr1699Ala)
c.4990A>G (p.Thr1664Ala)
c.4981A>G (p.Thr1661Ala)
c.4942A>G (p.Thr1648Ala)
c.4888A>G (p.Thr1630Ala)
c.4792A>G (p.Thr1598Ala)
c.4762A>G (p.Thr1588Ala)
c.4687A>G (p.Thr1563Ala)
c.4585A>G (p.Thr1529Ala)
c.4216A>G (p.Thr1406Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.112840659A>TCA16032410APCc.5119A>T (p.Thr1707Ser)
c.*5071A>T (n.*5071A>T)
c.5011A>T (p.Thr1671Ser)
c.5065A>T (p.Thr1689Ser)
c.*4387A>T (n.*4387A>T)
c.230+11687A>T
c.5095A>T (p.Thr1699Ser)
c.4990A>T (p.Thr1664Ser)
c.4981A>T (p.Thr1661Ser)
c.4942A>T (p.Thr1648Ser)
c.4888A>T (p.Thr1630Ser)
c.4792A>T (p.Thr1598Ser)
c.4762A>T (p.Thr1588Ser)
c.4687A>T (p.Thr1563Ser)
c.4585A>T (p.Thr1529Ser)
c.4216A>T (p.Thr1406Ser)
5g.112840659dupCA1139659017APCc.5119dup (p.Thr1707AsnfsTer11)
c.*5071dup (n.*5071dup)
c.5011dup (p.Thr1671AsnfsTer11)
c.5065dup (p.Thr1689AsnfsTer11)
c.*4387dup (n.*4387dup)
c.230+11687dup
c.5095dup (p.Thr1699AsnfsTer11)
c.4990dup (p.Thr1664AsnfsTer11)
c.4981dup (p.Thr1661AsnfsTer11)
c.4942dup (p.Thr1648AsnfsTer11)
c.4888dup (p.Thr1630AsnfsTer11)
c.4792dup (p.Thr1598AsnfsTer11)
c.4762dup (p.Thr1588AsnfsTer11)
c.4687dup (p.Thr1563AsnfsTer11)
c.4585dup (p.Thr1529AsnfsTer11)
c.4216dup (p.Thr1406AsnfsTer11)
 ClinVar dbSNP
5g.112840660C>ACA040545APCc.5120C>A (p.Thr1707Asn)
c.*5072C>A (n.*5072C>A)
c.5012C>A (p.Thr1671Asn)
c.5066C>A (p.Thr1689Asn)
c.*4388C>A (n.*4388C>A)
c.230+11688C>A
c.5096C>A (p.Thr1699Asn)
c.4991C>A (p.Thr1664Asn)
c.4982C>A (p.Thr1661Asn)
c.4943C>A (p.Thr1648Asn)
c.4889C>A (p.Thr1630Asn)
c.4793C>A (p.Thr1598Asn)
c.4763C>A (p.Thr1588Asn)
c.4688C>A (p.Thr1563Asn)
c.4586C>A (p.Thr1529Asn)
c.4217C>A (p.Thr1406Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840660C=CA1573473566APCc.5120C= (p.Thr1707=)
c.*5072C= (n.*5072C=)
c.5012C= (p.Thr1671=)
c.5066C= (p.Thr1689=)
c.*4388C= (n.*4388C=)
c.230+11688C=
c.5096C= (p.Thr1699=)
c.4991C= (p.Thr1664=)
c.4982C= (p.Thr1661=)
c.4943C= (p.Thr1648=)
c.4889C= (p.Thr1630=)
c.4793C= (p.Thr1598=)
c.4763C= (p.Thr1588=)
c.4688C= (p.Thr1563=)
c.4586C= (p.Thr1529=)
c.4217C= (p.Thr1406=)
5g.112840660C>GCA16032411APCc.5120C>G (p.Thr1707Ser)
c.*5072C>G (n.*5072C>G)
c.5012C>G (p.Thr1671Ser)
c.5066C>G (p.Thr1689Ser)
c.*4388C>G (n.*4388C>G)
c.230+11688C>G
c.5096C>G (p.Thr1699Ser)
c.4991C>G (p.Thr1664Ser)
c.4982C>G (p.Thr1661Ser)
c.4943C>G (p.Thr1648Ser)
c.4889C>G (p.Thr1630Ser)
c.4793C>G (p.Thr1598Ser)
c.4763C>G (p.Thr1588Ser)
c.4688C>G (p.Thr1563Ser)
c.4586C>G (p.Thr1529Ser)
c.4217C>G (p.Thr1406Ser)
 dbSNP
5g.112840660C>TCA040566APCc.5120C>T (p.Thr1707Ile)
c.*5072C>T (n.*5072C>T)
c.5012C>T (p.Thr1671Ile)
c.5066C>T (p.Thr1689Ile)
c.*4388C>T (n.*4388C>T)
c.230+11688C>T
c.5096C>T (p.Thr1699Ile)
c.4991C>T (p.Thr1664Ile)
c.4982C>T (p.Thr1661Ile)
c.4943C>T (p.Thr1648Ile)
c.4889C>T (p.Thr1630Ile)
c.4793C>T (p.Thr1598Ile)
c.4763C>T (p.Thr1588Ile)
c.4688C>T (p.Thr1563Ile)
c.4586C>T (p.Thr1529Ile)
c.4217C>T (p.Thr1406Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840661delCA2710010606APCc.5121del (p.Ile1708PhefsTer19)
c.*5073del (n.*5073del)
c.5013del (p.Ile1672PhefsTer19)
c.5067del (p.Ile1690PhefsTer19)
c.*4389del (n.*4389del)
c.230+11689del
c.5097del (p.Ile1700PhefsTer19)
c.4992del (p.Ile1665PhefsTer19)
c.4983del (p.Ile1662PhefsTer19)
c.4944del (p.Ile1649PhefsTer19)
c.4890del (p.Ile1631PhefsTer19)
c.4794del (p.Ile1599PhefsTer19)
c.4764del (p.Ile1589PhefsTer19)
c.4689del (p.Ile1564PhefsTer19)
c.4587del (p.Ile1530PhefsTer19)
c.4218del (p.Ile1407PhefsTer19)
 dbSNP
5g.112840661C>ACA446209550APCc.5121C>A (p.Thr1707=)
c.*5073C>A (n.*5073C>A)
c.5013C>A (p.Thr1671=)
c.5067C>A (p.Thr1689=)
c.*4389C>A (n.*4389C>A)
c.230+11689C>A
c.5097C>A (p.Thr1699=)
c.4992C>A (p.Thr1664=)
c.4983C>A (p.Thr1661=)
c.4944C>A (p.Thr1648=)
c.4890C>A (p.Thr1630=)
c.4794C>A (p.Thr1598=)
c.4764C>A (p.Thr1588=)
c.4689C>A (p.Thr1563=)
c.4587C>A (p.Thr1529=)
c.4218C>A (p.Thr1406=)
 ClinVar dbSNP
5g.112840661C=CA1573473580APCc.5121C= (p.Thr1707=)
c.*5073C= (n.*5073C=)
c.5013C= (p.Thr1671=)
c.5067C= (p.Thr1689=)
c.*4389C= (n.*4389C=)
c.230+11689C=
c.5097C= (p.Thr1699=)
c.4992C= (p.Thr1664=)
c.4983C= (p.Thr1661=)
c.4944C= (p.Thr1648=)
c.4890C= (p.Thr1630=)
c.4794C= (p.Thr1598=)
c.4764C= (p.Thr1588=)
c.4689C= (p.Thr1563=)
c.4587C= (p.Thr1529=)
c.4218C= (p.Thr1406=)
5g.112840661C>GCA446209551APCc.5121C>G (p.Thr1707=)
c.*5073C>G (n.*5073C>G)
c.5013C>G (p.Thr1671=)
c.5067C>G (p.Thr1689=)
c.*4389C>G (n.*4389C>G)
c.230+11689C>G
c.5097C>G (p.Thr1699=)
c.4992C>G (p.Thr1664=)
c.4983C>G (p.Thr1661=)
c.4944C>G (p.Thr1648=)
c.4890C>G (p.Thr1630=)
c.4794C>G (p.Thr1598=)
c.4764C>G (p.Thr1588=)
c.4689C>G (p.Thr1563=)
c.4587C>G (p.Thr1529=)
c.4218C>G (p.Thr1406=)
 ClinVar dbSNP
5g.112840661C>TCA446209552APCc.5121C>T (p.Thr1707=)
c.*5073C>T (n.*5073C>T)
c.5013C>T (p.Thr1671=)
c.5067C>T (p.Thr1689=)
c.*4389C>T (n.*4389C>T)
c.230+11689C>T
c.5097C>T (p.Thr1699=)
c.4992C>T (p.Thr1664=)
c.4983C>T (p.Thr1661=)
c.4944C>T (p.Thr1648=)
c.4890C>T (p.Thr1630=)
c.4794C>T (p.Thr1598=)
c.4764C>T (p.Thr1588=)
c.4689C>T (p.Thr1563=)
c.4587C>T (p.Thr1529=)
c.4218C>T (p.Thr1406=)
 ClinVar dbSNP
5g.112840662A=CA1573473591APCc.5122A= (p.Ile1708=)
c.*5074A= (n.*5074A=)
c.5014A= (p.Ile1672=)
c.5068A= (p.Ile1690=)
c.*4390A= (n.*4390A=)
c.230+11690A=
c.5098A= (p.Ile1700=)
c.4993A= (p.Ile1665=)
c.4984A= (p.Ile1662=)
c.4945A= (p.Ile1649=)
c.4891A= (p.Ile1631=)
c.4795A= (p.Ile1599=)
c.4765A= (p.Ile1589=)
c.4690A= (p.Ile1564=)
c.4588A= (p.Ile1530=)
c.4219A= (p.Ile1407=)
5g.112840662A>CCA16032412APCc.5122A>C (p.Ile1708Leu)
c.*5074A>C (n.*5074A>C)
c.5014A>C (p.Ile1672Leu)
c.5068A>C (p.Ile1690Leu)
c.*4390A>C (n.*4390A>C)
c.230+11690A>C
c.5098A>C (p.Ile1700Leu)
c.4993A>C (p.Ile1665Leu)
c.4984A>C (p.Ile1662Leu)
c.4945A>C (p.Ile1649Leu)
c.4891A>C (p.Ile1631Leu)
c.4795A>C (p.Ile1599Leu)
c.4765A>C (p.Ile1589Leu)
c.4690A>C (p.Ile1564Leu)
c.4588A>C (p.Ile1530Leu)
c.4219A>C (p.Ile1407Leu)
 ClinVar dbSNP gnomAD v4
5g.112840662A>GCA040590APCc.5122A>G (p.Ile1708Val)
c.*5074A>G (n.*5074A>G)
c.5014A>G (p.Ile1672Val)
c.5068A>G (p.Ile1690Val)
c.*4390A>G (n.*4390A>G)
c.230+11690A>G
c.5098A>G (p.Ile1700Val)
c.4993A>G (p.Ile1665Val)
c.4984A>G (p.Ile1662Val)
c.4945A>G (p.Ile1649Val)
c.4891A>G (p.Ile1631Val)
c.4795A>G (p.Ile1599Val)
c.4765A>G (p.Ile1589Val)
c.4690A>G (p.Ile1564Val)
c.4588A>G (p.Ile1530Val)
c.4219A>G (p.Ile1407Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840662A>TCA16032413APCc.5122A>T (p.Ile1708Phe)
c.*5074A>T (n.*5074A>T)
c.5014A>T (p.Ile1672Phe)
c.5068A>T (p.Ile1690Phe)
c.*4390A>T (n.*4390A>T)
c.230+11690A>T
c.5098A>T (p.Ile1700Phe)
c.4993A>T (p.Ile1665Phe)
c.4984A>T (p.Ile1662Phe)
c.4945A>T (p.Ile1649Phe)
c.4891A>T (p.Ile1631Phe)
c.4795A>T (p.Ile1599Phe)
c.4765A>T (p.Ile1589Phe)
c.4690A>T (p.Ile1564Phe)
c.4588A>T (p.Ile1530Phe)
c.4219A>T (p.Ile1407Phe)
 dbSNP
5g.112840663T>ACA16032414APCc.5123T>A (p.Ile1708Asn)
c.*5075T>A (n.*5075T>A)
c.5015T>A (p.Ile1672Asn)
c.5069T>A (p.Ile1690Asn)
c.*4391T>A (n.*4391T>A)
c.230+11691T>A
c.5099T>A (p.Ile1700Asn)
c.4994T>A (p.Ile1665Asn)
c.4985T>A (p.Ile1662Asn)
c.4946T>A (p.Ile1649Asn)
c.4892T>A (p.Ile1631Asn)
c.4796T>A (p.Ile1599Asn)
c.4766T>A (p.Ile1589Asn)
c.4691T>A (p.Ile1564Asn)
c.4589T>A (p.Ile1530Asn)
c.4220T>A (p.Ile1407Asn)
 dbSNP
5g.112840663T>CCA16032415APCc.5123T>C (p.Ile1708Thr)
c.*5075T>C (n.*5075T>C)
c.5015T>C (p.Ile1672Thr)
c.5069T>C (p.Ile1690Thr)
c.*4391T>C (n.*4391T>C)
c.230+11691T>C
c.5099T>C (p.Ile1700Thr)
c.4994T>C (p.Ile1665Thr)
c.4985T>C (p.Ile1662Thr)
c.4946T>C (p.Ile1649Thr)
c.4892T>C (p.Ile1631Thr)
c.4796T>C (p.Ile1599Thr)
c.4766T>C (p.Ile1589Thr)
c.4691T>C (p.Ile1564Thr)
c.4589T>C (p.Ile1530Thr)
c.4220T>C (p.Ile1407Thr)
5g.112840663T>GCA16032416APCc.5123T>G (p.Ile1708Ser)
c.*5075T>G (n.*5075T>G)
c.5015T>G (p.Ile1672Ser)
c.5069T>G (p.Ile1690Ser)
c.*4391T>G (n.*4391T>G)
c.230+11691T>G
c.5099T>G (p.Ile1700Ser)
c.4994T>G (p.Ile1665Ser)
c.4985T>G (p.Ile1662Ser)
c.4946T>G (p.Ile1649Ser)
c.4892T>G (p.Ile1631Ser)
c.4796T>G (p.Ile1599Ser)
c.4766T>G (p.Ile1589Ser)
c.4691T>G (p.Ile1564Ser)
c.4589T>G (p.Ile1530Ser)
c.4220T>G (p.Ile1407Ser)
5g.112840664T>ACA446209554APCc.5124T>A (p.Ile1708=)
c.*5076T>A (n.*5076T>A)
c.5016T>A (p.Ile1672=)
c.5070T>A (p.Ile1690=)
c.*4392T>A (n.*4392T>A)
c.230+11692T>A
c.5100T>A (p.Ile1700=)
c.4995T>A (p.Ile1665=)
c.4986T>A (p.Ile1662=)
c.4947T>A (p.Ile1649=)
c.4893T>A (p.Ile1631=)
c.4797T>A (p.Ile1599=)
c.4767T>A (p.Ile1589=)
c.4692T>A (p.Ile1564=)
c.4590T>A (p.Ile1530=)
c.4221T>A (p.Ile1407=)
 dbSNP gnomAD v4
5g.112840664T>CCA446209553APCc.5124T>C (p.Ile1708=)
c.*5076T>C (n.*5076T>C)
c.5016T>C (p.Ile1672=)
c.5070T>C (p.Ile1690=)
c.*4392T>C (n.*4392T>C)
c.230+11692T>C
c.5100T>C (p.Ile1700=)
c.4995T>C (p.Ile1665=)
c.4986T>C (p.Ile1662=)
c.4947T>C (p.Ile1649=)
c.4893T>C (p.Ile1631=)
c.4797T>C (p.Ile1599=)
c.4767T>C (p.Ile1589=)
c.4692T>C (p.Ile1564=)
c.4590T>C (p.Ile1530=)
c.4221T>C (p.Ile1407=)
5g.112840664T>GCA16032417APCc.5124T>G (p.Ile1708Met)
c.*5076T>G (n.*5076T>G)
c.5016T>G (p.Ile1672Met)
c.5070T>G (p.Ile1690Met)
c.*4392T>G (n.*4392T>G)
c.230+11692T>G
c.5100T>G (p.Ile1700Met)
c.4995T>G (p.Ile1665Met)
c.4986T>G (p.Ile1662Met)
c.4947T>G (p.Ile1649Met)
c.4893T>G (p.Ile1631Met)
c.4797T>G (p.Ile1599Met)
c.4767T>G (p.Ile1589Met)
c.4692T>G (p.Ile1564Met)
c.4590T>G (p.Ile1530Met)
c.4221T>G (p.Ile1407Met)
5g.112840665_112840667delCA2674856137APCc.5125_5127del (p.Pro1709del)
c.*5077_*5079del (n.*5077_*5079del)
c.5017_5019del (p.Pro1673del)
c.5071_5073del (p.Pro1691del)
c.*4393_*4395del (n.*4393_*4395del)
c.230+11693_230+11695del
c.5101_5103del (p.Pro1701del)
c.4996_4998del (p.Pro1666del)
c.4987_4989del (p.Pro1663del)
c.4948_4950del (p.Pro1650del)
c.4894_4896del (p.Pro1632del)
c.4798_4800del (p.Pro1600del)
c.4768_4770del (p.Pro1590del)
c.4693_4695del (p.Pro1565del)
c.4591_4593del (p.Pro1531del)
c.4222_4224del (p.Pro1408del)
 gnomAD v4
5g.112840665C>ACA16032418APCc.5125C>A (p.Pro1709Thr)
c.*5077C>A (n.*5077C>A)
c.5017C>A (p.Pro1673Thr)
c.5071C>A (p.Pro1691Thr)
c.*4393C>A (n.*4393C>A)
c.230+11693C>A
c.5101C>A (p.Pro1701Thr)
c.4996C>A (p.Pro1666Thr)
c.4987C>A (p.Pro1663Thr)
c.4948C>A (p.Pro1650Thr)
c.4894C>A (p.Pro1632Thr)
c.4798C>A (p.Pro1600Thr)
c.4768C>A (p.Pro1590Thr)
c.4693C>A (p.Pro1565Thr)
c.4591C>A (p.Pro1531Thr)
c.4222C>A (p.Pro1408Thr)
 ClinVar dbSNP gnomAD v4
5g.112840665C=CA1573473596APCc.5125C= (p.Pro1709=)
c.*5077C= (n.*5077C=)
c.5017C= (p.Pro1673=)
c.5071C= (p.Pro1691=)
c.*4393C= (n.*4393C=)
c.230+11693C=
c.5101C= (p.Pro1701=)
c.4996C= (p.Pro1666=)
c.4987C= (p.Pro1663=)
c.4948C= (p.Pro1650=)
c.4894C= (p.Pro1632=)
c.4798C= (p.Pro1600=)
c.4768C= (p.Pro1590=)
c.4693C= (p.Pro1565=)
c.4591C= (p.Pro1531=)
c.4222C= (p.Pro1408=)
5g.112840665C>GCA16032419APCc.5125C>G (p.Pro1709Ala)
c.*5077C>G (n.*5077C>G)
c.5017C>G (p.Pro1673Ala)
c.5071C>G (p.Pro1691Ala)
c.*4393C>G (n.*4393C>G)
c.230+11693C>G
c.5101C>G (p.Pro1701Ala)
c.4996C>G (p.Pro1666Ala)
c.4987C>G (p.Pro1663Ala)
c.4948C>G (p.Pro1650Ala)
c.4894C>G (p.Pro1632Ala)
c.4798C>G (p.Pro1600Ala)
c.4768C>G (p.Pro1590Ala)
c.4693C>G (p.Pro1565Ala)
c.4591C>G (p.Pro1531Ala)
c.4222C>G (p.Pro1408Ala)
 ClinVar
5g.112840665C>TCA16032420APCc.5125C>T (p.Pro1709Ser)
c.*5077C>T (n.*5077C>T)
c.5017C>T (p.Pro1673Ser)
c.5071C>T (p.Pro1691Ser)
c.*4393C>T (n.*4393C>T)
c.230+11693C>T
c.5101C>T (p.Pro1701Ser)
c.4996C>T (p.Pro1666Ser)
c.4987C>T (p.Pro1663Ser)
c.4948C>T (p.Pro1650Ser)
c.4894C>T (p.Pro1632Ser)
c.4798C>T (p.Pro1600Ser)
c.4768C>T (p.Pro1590Ser)
c.4693C>T (p.Pro1565Ser)
c.4591C>T (p.Pro1531Ser)
c.4222C>T (p.Pro1408Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112840666C>ACA16032421APCc.5126C>A (p.Pro1709His)
c.*5078C>A (n.*5078C>A)
c.5018C>A (p.Pro1673His)
c.5072C>A (p.Pro1691His)
c.*4394C>A (n.*4394C>A)
c.230+11694C>A
c.5102C>A (p.Pro1701His)
c.4997C>A (p.Pro1666His)
c.4988C>A (p.Pro1663His)
c.4949C>A (p.Pro1650His)
c.4895C>A (p.Pro1632His)
c.4799C>A (p.Pro1600His)
c.4769C>A (p.Pro1590His)
c.4694C>A (p.Pro1565His)
c.4592C>A (p.Pro1531His)
c.4223C>A (p.Pro1408His)
 dbSNP COSMIC
5g.112840666C=CA1573473616APCc.5126C= (p.Pro1709=)
c.*5078C= (n.*5078C=)
c.5018C= (p.Pro1673=)
c.5072C= (p.Pro1691=)
c.*4394C= (n.*4394C=)
c.230+11694C=
c.5102C= (p.Pro1701=)
c.4997C= (p.Pro1666=)
c.4988C= (p.Pro1663=)
c.4949C= (p.Pro1650=)
c.4895C= (p.Pro1632=)
c.4799C= (p.Pro1600=)
c.4769C= (p.Pro1590=)
c.4694C= (p.Pro1565=)
c.4592C= (p.Pro1531=)
c.4223C= (p.Pro1408=)
5g.112840666C>GCA16032422APCc.5126C>G (p.Pro1709Arg)
c.*5078C>G (n.*5078C>G)
c.5018C>G (p.Pro1673Arg)
c.5072C>G (p.Pro1691Arg)
c.*4394C>G (n.*4394C>G)
c.230+11694C>G
c.5102C>G (p.Pro1701Arg)
c.4997C>G (p.Pro1666Arg)
c.4988C>G (p.Pro1663Arg)
c.4949C>G (p.Pro1650Arg)
c.4895C>G (p.Pro1632Arg)
c.4799C>G (p.Pro1600Arg)
c.4769C>G (p.Pro1590Arg)
c.4694C>G (p.Pro1565Arg)
c.4592C>G (p.Pro1531Arg)
c.4223C>G (p.Pro1408Arg)
 dbSNP gnomAD v2
5g.112840666C>TCA16032423APCc.5126C>T (p.Pro1709Leu)
c.*5078C>T (n.*5078C>T)
c.5018C>T (p.Pro1673Leu)
c.5072C>T (p.Pro1691Leu)
c.*4394C>T (n.*4394C>T)
c.230+11694C>T
c.5102C>T (p.Pro1701Leu)
c.4997C>T (p.Pro1666Leu)
c.4988C>T (p.Pro1663Leu)
c.4949C>T (p.Pro1650Leu)
c.4895C>T (p.Pro1632Leu)
c.4799C>T (p.Pro1600Leu)
c.4769C>T (p.Pro1590Leu)
c.4694C>T (p.Pro1565Leu)
c.4592C>T (p.Pro1531Leu)
c.4223C>T (p.Pro1408Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112840667T>ACA446209557APCc.5127T>A (p.Pro1709=)
c.*5079T>A (n.*5079T>A)
c.5019T>A (p.Pro1673=)
c.5073T>A (p.Pro1691=)
c.*4395T>A (n.*4395T>A)
c.230+11695T>A
c.5103T>A (p.Pro1701=)
c.4998T>A (p.Pro1666=)
c.4989T>A (p.Pro1663=)
c.4950T>A (p.Pro1650=)
c.4896T>A (p.Pro1632=)
c.4800T>A (p.Pro1600=)
c.4770T>A (p.Pro1590=)
c.4695T>A (p.Pro1565=)
c.4593T>A (p.Pro1531=)
c.4224T>A (p.Pro1408=)
 dbSNP
5g.112840667T>CCA446209556APCc.5127T>C (p.Pro1709=)
c.*5079T>C (n.*5079T>C)
c.5019T>C (p.Pro1673=)
c.5073T>C (p.Pro1691=)
c.*4395T>C (n.*4395T>C)
c.230+11695T>C
c.5103T>C (p.Pro1701=)
c.4998T>C (p.Pro1666=)
c.4989T>C (p.Pro1663=)
c.4950T>C (p.Pro1650=)
c.4896T>C (p.Pro1632=)
c.4800T>C (p.Pro1600=)
c.4770T>C (p.Pro1590=)
c.4695T>C (p.Pro1565=)
c.4593T>C (p.Pro1531=)
c.4224T>C (p.Pro1408=)
 ClinVar dbSNP gnomAD v4
5g.112840667T>GCA446209555APCc.5127T>G (p.Pro1709=)
c.*5079T>G (n.*5079T>G)
c.5019T>G (p.Pro1673=)
c.5073T>G (p.Pro1691=)
c.*4395T>G (n.*4395T>G)
c.230+11695T>G
c.5103T>G (p.Pro1701=)
c.4998T>G (p.Pro1666=)
c.4989T>G (p.Pro1663=)
c.4950T>G (p.Pro1650=)
c.4896T>G (p.Pro1632=)
c.4800T>G (p.Pro1600=)
c.4770T>G (p.Pro1590=)
c.4695T>G (p.Pro1565=)
c.4593T>G (p.Pro1531=)
c.4224T>G (p.Pro1408=)
5g.112840668A=CA1573473622APCc.5128A= (p.Thr1710=)
c.*5080A= (n.*5080A=)
c.5020A= (p.Thr1674=)
c.5074A= (p.Thr1692=)
c.*4396A= (n.*4396A=)
c.230+11696A=
c.5104A= (p.Thr1702=)
c.4999A= (p.Thr1667=)
c.4990A= (p.Thr1664=)
c.4951A= (p.Thr1651=)
c.4897A= (p.Thr1633=)
c.4801A= (p.Thr1601=)
c.4771A= (p.Thr1591=)
c.4696A= (p.Thr1566=)
c.4594A= (p.Thr1532=)
c.4225A= (p.Thr1409=)
5g.112840668A>CCA16032424APCc.5128A>C (p.Thr1710Pro)
c.*5080A>C (n.*5080A>C)
c.5020A>C (p.Thr1674Pro)
c.5074A>C (p.Thr1692Pro)
c.*4396A>C (n.*4396A>C)
c.230+11696A>C
c.5104A>C (p.Thr1702Pro)
c.4999A>C (p.Thr1667Pro)
c.4990A>C (p.Thr1664Pro)
c.4951A>C (p.Thr1651Pro)
c.4897A>C (p.Thr1633Pro)
c.4801A>C (p.Thr1601Pro)
c.4771A>C (p.Thr1591Pro)
c.4696A>C (p.Thr1566Pro)
c.4594A>C (p.Thr1532Pro)
c.4225A>C (p.Thr1409Pro)
 dbSNP
5g.112840668A>GCA16032425APCc.5128A>G (p.Thr1710Ala)
c.*5080A>G (n.*5080A>G)
c.5020A>G (p.Thr1674Ala)
c.5074A>G (p.Thr1692Ala)
c.*4396A>G (n.*4396A>G)
c.230+11696A>G
c.5104A>G (p.Thr1702Ala)
c.4999A>G (p.Thr1667Ala)
c.4990A>G (p.Thr1664Ala)
c.4951A>G (p.Thr1651Ala)
c.4897A>G (p.Thr1633Ala)
c.4801A>G (p.Thr1601Ala)
c.4771A>G (p.Thr1591Ala)
c.4696A>G (p.Thr1566Ala)
c.4594A>G (p.Thr1532Ala)
c.4225A>G (p.Thr1409Ala)
 ClinVar dbSNP gnomAD v4
5g.112840668A>TCA16032426APCc.5128A>T (p.Thr1710Ser)
c.*5080A>T (n.*5080A>T)
c.5020A>T (p.Thr1674Ser)
c.5074A>T (p.Thr1692Ser)
c.*4396A>T (n.*4396A>T)
c.230+11696A>T
c.5104A>T (p.Thr1702Ser)
c.4999A>T (p.Thr1667Ser)
c.4990A>T (p.Thr1664Ser)
c.4951A>T (p.Thr1651Ser)
c.4897A>T (p.Thr1633Ser)
c.4801A>T (p.Thr1601Ser)
c.4771A>T (p.Thr1591Ser)
c.4696A>T (p.Thr1566Ser)
c.4594A>T (p.Thr1532Ser)
c.4225A>T (p.Thr1409Ser)
 dbSNP
5g.112840669C>ACA16032427APCc.5129C>A (p.Thr1710Lys)
c.*5081C>A (n.*5081C>A)
c.5021C>A (p.Thr1674Lys)
c.5075C>A (p.Thr1692Lys)
c.*4397C>A (n.*4397C>A)
c.230+11697C>A
c.5105C>A (p.Thr1702Lys)
c.5000C>A (p.Thr1667Lys)
c.4991C>A (p.Thr1664Lys)
c.4952C>A (p.Thr1651Lys)
c.4898C>A (p.Thr1633Lys)
c.4802C>A (p.Thr1601Lys)
c.4772C>A (p.Thr1591Lys)
c.4697C>A (p.Thr1566Lys)
c.4595C>A (p.Thr1532Lys)
c.4226C>A (p.Thr1409Lys)
 dbSNP
5g.112840669C=CA1573473642APCc.5129C= (p.Thr1710=)
c.*5081C= (n.*5081C=)
c.5021C= (p.Thr1674=)
c.5075C= (p.Thr1692=)
c.*4397C= (n.*4397C=)
c.230+11697C=
c.5105C= (p.Thr1702=)
c.5000C= (p.Thr1667=)
c.4991C= (p.Thr1664=)
c.4952C= (p.Thr1651=)
c.4898C= (p.Thr1633=)
c.4802C= (p.Thr1601=)
c.4772C= (p.Thr1591=)
c.4697C= (p.Thr1566=)
c.4595C= (p.Thr1532=)
c.4226C= (p.Thr1409=)
5g.112840669C>GCA16032428APCc.5129C>G (p.Thr1710Arg)
c.*5081C>G (n.*5081C>G)
c.5021C>G (p.Thr1674Arg)
c.5075C>G (p.Thr1692Arg)
c.*4397C>G (n.*4397C>G)
c.230+11697C>G
c.5105C>G (p.Thr1702Arg)
c.5000C>G (p.Thr1667Arg)
c.4991C>G (p.Thr1664Arg)
c.4952C>G (p.Thr1651Arg)
c.4898C>G (p.Thr1633Arg)
c.4802C>G (p.Thr1601Arg)
c.4772C>G (p.Thr1591Arg)
c.4697C>G (p.Thr1566Arg)
c.4595C>G (p.Thr1532Arg)
c.4226C>G (p.Thr1409Arg)
 ClinVar dbSNP
5g.112840669C>TCA16032429APCc.5129C>T (p.Thr1710Ile)
c.*5081C>T (n.*5081C>T)
c.5021C>T (p.Thr1674Ile)
c.5075C>T (p.Thr1692Ile)
c.*4397C>T (n.*4397C>T)
c.230+11697C>T
c.5105C>T (p.Thr1702Ile)
c.5000C>T (p.Thr1667Ile)
c.4991C>T (p.Thr1664Ile)
c.4952C>T (p.Thr1651Ile)
c.4898C>T (p.Thr1633Ile)
c.4802C>T (p.Thr1601Ile)
c.4772C>T (p.Thr1591Ile)
c.4697C>T (p.Thr1566Ile)
c.4595C>T (p.Thr1532Ile)
c.4226C>T (p.Thr1409Ile)
 ClinVar dbSNP
5g.112840670A>CCA446209558APCc.5130A>C (p.Thr1710=)
c.*5082A>C (n.*5082A>C)
c.5022A>C (p.Thr1674=)
c.5076A>C (p.Thr1692=)
c.*4398A>C (n.*4398A>C)
c.230+11698A>C
c.5106A>C (p.Thr1702=)
c.5001A>C (p.Thr1667=)
c.4992A>C (p.Thr1664=)
c.4953A>C (p.Thr1651=)
c.4899A>C (p.Thr1633=)
c.4803A>C (p.Thr1601=)
c.4773A>C (p.Thr1591=)
c.4698A>C (p.Thr1566=)
c.4596A>C (p.Thr1532=)
c.4227A>C (p.Thr1409=)
5g.112840670A>GCA446209560APCc.5130A>G (p.Thr1710=)
c.*5082A>G (n.*5082A>G)
c.5022A>G (p.Thr1674=)
c.5076A>G (p.Thr1692=)
c.*4398A>G (n.*4398A>G)
c.230+11698A>G
c.5106A>G (p.Thr1702=)
c.5001A>G (p.Thr1667=)
c.4992A>G (p.Thr1664=)
c.4953A>G (p.Thr1651=)
c.4899A>G (p.Thr1633=)
c.4803A>G (p.Thr1601=)
c.4773A>G (p.Thr1591=)
c.4698A>G (p.Thr1566=)
c.4596A>G (p.Thr1532=)
c.4227A>G (p.Thr1409=)
 ClinVar dbSNP gnomAD v4
5g.112840670A>TCA446209559APCc.5130A>T (p.Thr1710=)
c.*5082A>T (n.*5082A>T)
c.5022A>T (p.Thr1674=)
c.5076A>T (p.Thr1692=)
c.*4398A>T (n.*4398A>T)
c.230+11698A>T
c.5106A>T (p.Thr1702=)
c.5001A>T (p.Thr1667=)
c.4992A>T (p.Thr1664=)
c.4953A>T (p.Thr1651=)
c.4899A>T (p.Thr1633=)
c.4803A>T (p.Thr1601=)
c.4773A>T (p.Thr1591=)
c.4698A>T (p.Thr1566=)
c.4596A>T (p.Thr1532=)
c.4227A>T (p.Thr1409=)
 dbSNP
5g.112840671G>ACA16032430APCc.5131G>A (p.Glu1711Lys)
c.*5083G>A (n.*5083G>A)
c.5023G>A (p.Glu1675Lys)
c.5077G>A (p.Glu1693Lys)
c.*4399G>A (n.*4399G>A)
c.230+11699G>A
c.5107G>A (p.Glu1703Lys)
c.5002G>A (p.Glu1668Lys)
c.4993G>A (p.Glu1665Lys)
c.4954G>A (p.Glu1652Lys)
c.4900G>A (p.Glu1634Lys)
c.4804G>A (p.Glu1602Lys)
c.4774G>A (p.Glu1592Lys)
c.4699G>A (p.Glu1567Lys)
c.4597G>A (p.Glu1533Lys)
c.4228G>A (p.Glu1410Lys)
 ClinVar dbSNP
5g.112840671G>CCA16032431APCc.5131G>C (p.Glu1711Gln)
c.*5083G>C (n.*5083G>C)
c.5023G>C (p.Glu1675Gln)
c.5077G>C (p.Glu1693Gln)
c.*4399G>C (n.*4399G>C)
c.230+11699G>C
c.5107G>C (p.Glu1703Gln)
c.5002G>C (p.Glu1668Gln)
c.4993G>C (p.Glu1665Gln)
c.4954G>C (p.Glu1652Gln)
c.4900G>C (p.Glu1634Gln)
c.4804G>C (p.Glu1602Gln)
c.4774G>C (p.Glu1592Gln)
c.4699G>C (p.Glu1567Gln)
c.4597G>C (p.Glu1533Gln)
c.4228G>C (p.Glu1410Gln)
 dbSNP
5g.112840671G=CA1573473649APCc.5131G= (p.Glu1711=)
c.*5083G= (n.*5083G=)
c.5023G= (p.Glu1675=)
c.5077G= (p.Glu1693=)
c.*4399G= (n.*4399G=)
c.230+11699G=
c.5107G= (p.Glu1703=)
c.5002G= (p.Glu1668=)
c.4993G= (p.Glu1665=)
c.4954G= (p.Glu1652=)
c.4900G= (p.Glu1634=)
c.4804G= (p.Glu1602=)
c.4774G= (p.Glu1592=)
c.4699G= (p.Glu1567=)
c.4597G= (p.Glu1533=)
c.4228G= (p.Glu1410=)
5g.112840671G>TCA16032432APCc.5131G>T (p.Glu1711Ter)
c.*5083G>T (n.*5083G>T)
c.5023G>T (p.Glu1675Ter)
c.5077G>T (p.Glu1693Ter)
c.*4399G>T (n.*4399G>T)
c.230+11699G>T
c.5107G>T (p.Glu1703Ter)
c.5002G>T (p.Glu1668Ter)
c.4993G>T (p.Glu1665Ter)
c.4954G>T (p.Glu1652Ter)
c.4900G>T (p.Glu1634Ter)
c.4804G>T (p.Glu1602Ter)
c.4774G>T (p.Glu1592Ter)
c.4699G>T (p.Glu1567Ter)
c.4597G>T (p.Glu1533Ter)
c.4228G>T (p.Glu1410Ter)
5g.112840672A=CA1573473662APCc.5132A= (p.Glu1711=)
c.*5084A= (n.*5084A=)
c.5024A= (p.Glu1675=)
c.5078A= (p.Glu1693=)
c.*4400A= (n.*4400A=)
c.230+11700A=
c.5108A= (p.Glu1703=)
c.5003A= (p.Glu1668=)
c.4994A= (p.Glu1665=)
c.4955A= (p.Glu1652=)
c.4901A= (p.Glu1634=)
c.4805A= (p.Glu1602=)
c.4775A= (p.Glu1592=)
c.4700A= (p.Glu1567=)
c.4598A= (p.Glu1533=)
c.4229A= (p.Glu1410=)
5g.112840672A>CCA16032433APCc.5132A>C (p.Glu1711Ala)
c.*5084A>C (n.*5084A>C)
c.5024A>C (p.Glu1675Ala)
c.5078A>C (p.Glu1693Ala)
c.*4400A>C (n.*4400A>C)
c.230+11700A>C
c.5108A>C (p.Glu1703Ala)
c.5003A>C (p.Glu1668Ala)
c.4994A>C (p.Glu1665Ala)
c.4955A>C (p.Glu1652Ala)
c.4901A>C (p.Glu1634Ala)
c.4805A>C (p.Glu1602Ala)
c.4775A>C (p.Glu1592Ala)
c.4700A>C (p.Glu1567Ala)
c.4598A>C (p.Glu1533Ala)
c.4229A>C (p.Glu1410Ala)
5g.112840672A>GCA040604APCc.5132A>G (p.Glu1711Gly)
c.*5084A>G (n.*5084A>G)
c.5024A>G (p.Glu1675Gly)
c.5078A>G (p.Glu1693Gly)
c.*4400A>G (n.*4400A>G)
c.230+11700A>G
c.5108A>G (p.Glu1703Gly)
c.5003A>G (p.Glu1668Gly)
c.4994A>G (p.Glu1665Gly)
c.4955A>G (p.Glu1652Gly)
c.4901A>G (p.Glu1634Gly)
c.4805A>G (p.Glu1602Gly)
c.4775A>G (p.Glu1592Gly)
c.4700A>G (p.Glu1567Gly)
c.4598A>G (p.Glu1533Gly)
c.4229A>G (p.Glu1410Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840672A>TCA16032434APCc.5132A>T (p.Glu1711Val)
c.*5084A>T (n.*5084A>T)
c.5024A>T (p.Glu1675Val)
c.5078A>T (p.Glu1693Val)
c.*4400A>T (n.*4400A>T)
c.230+11700A>T
c.5108A>T (p.Glu1703Val)
c.5003A>T (p.Glu1668Val)
c.4994A>T (p.Glu1665Val)
c.4955A>T (p.Glu1652Val)
c.4901A>T (p.Glu1634Val)
c.4805A>T (p.Glu1602Val)
c.4775A>T (p.Glu1592Val)
c.4700A>T (p.Glu1567Val)
c.4598A>T (p.Glu1533Val)
c.4229A>T (p.Glu1410Val)
 dbSNP
5g.112840673A>CCA16032435APCc.5133A>C (p.Glu1711Asp)
c.*5085A>C (n.*5085A>C)
c.5025A>C (p.Glu1675Asp)
c.5079A>C (p.Glu1693Asp)
c.*4401A>C (n.*4401A>C)
c.230+11701A>C
c.5109A>C (p.Glu1703Asp)
c.5004A>C (p.Glu1668Asp)
c.4995A>C (p.Glu1665Asp)
c.4956A>C (p.Glu1652Asp)
c.4902A>C (p.Glu1634Asp)
c.4806A>C (p.Glu1602Asp)
c.4776A>C (p.Glu1592Asp)
c.4701A>C (p.Glu1567Asp)
c.4599A>C (p.Glu1533Asp)
c.4230A>C (p.Glu1410Asp)
5g.112840673A>GCA446209561APCc.5133A>G (p.Glu1711=)
c.*5085A>G (n.*5085A>G)
c.5025A>G (p.Glu1675=)
c.5079A>G (p.Glu1693=)
c.*4401A>G (n.*4401A>G)
c.230+11701A>G
c.5109A>G (p.Glu1703=)
c.5004A>G (p.Glu1668=)
c.4995A>G (p.Glu1665=)
c.4956A>G (p.Glu1652=)
c.4902A>G (p.Glu1634=)
c.4806A>G (p.Glu1602=)
c.4776A>G (p.Glu1592=)
c.4701A>G (p.Glu1567=)
c.4599A>G (p.Glu1533=)
c.4230A>G (p.Glu1410=)
 dbSNP
5g.112840673A>TCA16032436APCc.5133A>T (p.Glu1711Asp)
c.*5085A>T (n.*5085A>T)
c.5025A>T (p.Glu1675Asp)
c.5079A>T (p.Glu1693Asp)
c.*4401A>T (n.*4401A>T)
c.230+11701A>T
c.5109A>T (p.Glu1703Asp)
c.5004A>T (p.Glu1668Asp)
c.4995A>T (p.Glu1665Asp)
c.4956A>T (p.Glu1652Asp)
c.4902A>T (p.Glu1634Asp)
c.4806A>T (p.Glu1602Asp)
c.4776A>T (p.Glu1592Asp)
c.4701A>T (p.Glu1567Asp)
c.4599A>T (p.Glu1533Asp)
c.4230A>T (p.Glu1410Asp)
 dbSNP
5g.112840677_112840693delCA2825001375APCc.5137_5153del (p.Arg1713SerfsTer12)
c.*5089_*5105del (n.*5089_*5105del)
c.5029_5045del (p.Arg1677SerfsTer12)
c.5083_5099del (p.Arg1695SerfsTer12)
c.*4405_*4421del (n.*4405_*4421del)
c.230+11705_230+11721del
c.5113_5129del (p.Arg1705SerfsTer12)
c.5008_5024del (p.Arg1670SerfsTer12)
c.4999_5015del (p.Arg1667SerfsTer12)
c.4960_4976del (p.Arg1654SerfsTer12)
c.4906_4922del (p.Arg1636SerfsTer12)
c.4810_4826del (p.Arg1604SerfsTer12)
c.4780_4796del (p.Arg1594SerfsTer12)
c.4705_4721del (p.Arg1569SerfsTer12)
c.4603_4619del (p.Arg1535SerfsTer12)
c.4234_4250del (p.Arg1412SerfsTer12)
 ClinVar
5g.112840674G>ACA16032437APCc.5134G>A (p.Gly1712Ser)
c.*5086G>A (n.*5086G>A)
c.5026G>A (p.Gly1676Ser)
c.5080G>A (p.Gly1694Ser)
c.*4402G>A (n.*4402G>A)
c.230+11702G>A
c.5110G>A (p.Gly1704Ser)
c.5005G>A (p.Gly1669Ser)
c.4996G>A (p.Gly1666Ser)
c.4957G>A (p.Gly1653Ser)
c.4903G>A (p.Gly1635Ser)
c.4807G>A (p.Gly1603Ser)
c.4777G>A (p.Gly1593Ser)
c.4702G>A (p.Gly1568Ser)
c.4600G>A (p.Gly1534Ser)
c.4231G>A (p.Gly1411Ser)
 ClinVar dbSNP gnomAD v4
5g.112840674G>CCA16032438APCc.5134G>C (p.Gly1712Arg)
c.*5086G>C (n.*5086G>C)
c.5026G>C (p.Gly1676Arg)
c.5080G>C (p.Gly1694Arg)
c.*4402G>C (n.*4402G>C)
c.230+11702G>C
c.5110G>C (p.Gly1704Arg)
c.5005G>C (p.Gly1669Arg)
c.4996G>C (p.Gly1666Arg)
c.4957G>C (p.Gly1653Arg)
c.4903G>C (p.Gly1635Arg)
c.4807G>C (p.Gly1603Arg)
c.4777G>C (p.Gly1593Arg)
c.4702G>C (p.Gly1568Arg)
c.4600G>C (p.Gly1534Arg)
c.4231G>C (p.Gly1411Arg)
5g.112840674G=CA1573473689APCc.5134G= (p.Gly1712=)
c.*5086G= (n.*5086G=)
c.5026G= (p.Gly1676=)
c.5080G= (p.Gly1694=)
c.*4402G= (n.*4402G=)
c.230+11702G=
c.5110G= (p.Gly1704=)
c.5005G= (p.Gly1669=)
c.4996G= (p.Gly1666=)
c.4957G= (p.Gly1653=)
c.4903G= (p.Gly1635=)
c.4807G= (p.Gly1603=)
c.4777G= (p.Gly1593=)
c.4702G= (p.Gly1568=)
c.4600G= (p.Gly1534=)
c.4231G= (p.Gly1411=)
5g.112840674G>TCA16032439APCc.5134G>T (p.Gly1712Cys)
c.*5086G>T (n.*5086G>T)
c.5026G>T (p.Gly1676Cys)
c.5080G>T (p.Gly1694Cys)
c.*4402G>T (n.*4402G>T)
c.230+11702G>T
c.5110G>T (p.Gly1704Cys)
c.5005G>T (p.Gly1669Cys)
c.4996G>T (p.Gly1666Cys)
c.4957G>T (p.Gly1653Cys)
c.4903G>T (p.Gly1635Cys)
c.4807G>T (p.Gly1603Cys)
c.4777G>T (p.Gly1593Cys)
c.4702G>T (p.Gly1568Cys)
c.4600G>T (p.Gly1534Cys)
c.4231G>T (p.Gly1411Cys)
 ClinVar dbSNP
5g.112840675G>ACA16032440APCc.5135G>A (p.Gly1712Asp)
c.*5087G>A (n.*5087G>A)
c.5027G>A (p.Gly1676Asp)
c.5081G>A (p.Gly1694Asp)
c.*4403G>A (n.*4403G>A)
c.230+11703G>A
c.5111G>A (p.Gly1704Asp)
c.5006G>A (p.Gly1669Asp)
c.4997G>A (p.Gly1666Asp)
c.4958G>A (p.Gly1653Asp)
c.4904G>A (p.Gly1635Asp)
c.4808G>A (p.Gly1603Asp)
c.4778G>A (p.Gly1593Asp)
c.4703G>A (p.Gly1568Asp)
c.4601G>A (p.Gly1534Asp)
c.4232G>A (p.Gly1411Asp)
 ClinVar dbSNP
5g.112840675G>CCA16032441APCc.5135G>C (p.Gly1712Ala)
c.*5087G>C (n.*5087G>C)
c.5027G>C (p.Gly1676Ala)
c.5081G>C (p.Gly1694Ala)
c.*4403G>C (n.*4403G>C)
c.230+11703G>C
c.5111G>C (p.Gly1704Ala)
c.5006G>C (p.Gly1669Ala)
c.4997G>C (p.Gly1666Ala)
c.4958G>C (p.Gly1653Ala)
c.4904G>C (p.Gly1635Ala)
c.4808G>C (p.Gly1603Ala)
c.4778G>C (p.Gly1593Ala)
c.4703G>C (p.Gly1568Ala)
c.4601G>C (p.Gly1534Ala)
c.4232G>C (p.Gly1411Ala)
 dbSNP
5g.112840675G>TCA16032442APCc.5135G>T (p.Gly1712Val)
c.*5087G>T (n.*5087G>T)
c.5027G>T (p.Gly1676Val)
c.5081G>T (p.Gly1694Val)
c.*4403G>T (n.*4403G>T)
c.230+11703G>T
c.5111G>T (p.Gly1704Val)
c.5006G>T (p.Gly1669Val)
c.4997G>T (p.Gly1666Val)
c.4958G>T (p.Gly1653Val)
c.4904G>T (p.Gly1635Val)
c.4808G>T (p.Gly1603Val)
c.4778G>T (p.Gly1593Val)
c.4703G>T (p.Gly1568Val)
c.4601G>T (p.Gly1534Val)
c.4232G>T (p.Gly1411Val)
 dbSNP gnomAD v4
5g.112840676C>ACA446209562APCc.5136C>A (p.Gly1712=)
c.*5088C>A (n.*5088C>A)
c.5028C>A (p.Gly1676=)
c.5082C>A (p.Gly1694=)
c.*4404C>A (n.*4404C>A)
c.230+11704C>A
c.5112C>A (p.Gly1704=)
c.5007C>A (p.Gly1669=)
c.4998C>A (p.Gly1666=)
c.4959C>A (p.Gly1653=)
c.4905C>A (p.Gly1635=)
c.4809C>A (p.Gly1603=)
c.4779C>A (p.Gly1593=)
c.4704C>A (p.Gly1568=)
c.4602C>A (p.Gly1534=)
c.4233C>A (p.Gly1411=)
 dbSNP
5g.112840676C>GCA446209563APCc.5136C>G (p.Gly1712=)
c.*5088C>G (n.*5088C>G)
c.5028C>G (p.Gly1676=)
c.5082C>G (p.Gly1694=)
c.*4404C>G (n.*4404C>G)
c.230+11704C>G
c.5112C>G (p.Gly1704=)
c.5007C>G (p.Gly1669=)
c.4998C>G (p.Gly1666=)
c.4959C>G (p.Gly1653=)
c.4905C>G (p.Gly1635=)
c.4809C>G (p.Gly1603=)
c.4779C>G (p.Gly1593=)
c.4704C>G (p.Gly1568=)
c.4602C>G (p.Gly1534=)
c.4233C>G (p.Gly1411=)
 dbSNP
5g.112840676C>TCA446209564APCc.5136C>T (p.Gly1712=)
c.*5088C>T (n.*5088C>T)
c.5028C>T (p.Gly1676=)
c.5082C>T (p.Gly1694=)
c.*4404C>T (n.*4404C>T)
c.230+11704C>T
c.5112C>T (p.Gly1704=)
c.5007C>T (p.Gly1669=)
c.4998C>T (p.Gly1666=)
c.4959C>T (p.Gly1653=)
c.4905C>T (p.Gly1635=)
c.4809C>T (p.Gly1603=)
c.4779C>T (p.Gly1593=)
c.4704C>T (p.Gly1568=)
c.4602C>T (p.Gly1534=)
c.4233C>T (p.Gly1411=)
 dbSNP
5g.112840677A=CA1573473697APCc.5137A= (p.Arg1713=)
c.*5089A= (n.*5089A=)
c.5029A= (p.Arg1677=)
c.5083A= (p.Arg1695=)
c.*4405A= (n.*4405A=)
c.230+11705A=
c.5113A= (p.Arg1705=)
c.5008A= (p.Arg1670=)
c.4999A= (p.Arg1667=)
c.4960A= (p.Arg1654=)
c.4906A= (p.Arg1636=)
c.4810A= (p.Arg1604=)
c.4780A= (p.Arg1594=)
c.4705A= (p.Arg1569=)
c.4603A= (p.Arg1535=)
c.4234A= (p.Arg1412=)
5g.112840677A>CCA446209565APCc.5137A>C (p.Arg1713=)
c.*5089A>C (n.*5089A>C)
c.5029A>C (p.Arg1677=)
c.5083A>C (p.Arg1695=)
c.*4405A>C (n.*4405A>C)
c.230+11705A>C
c.5113A>C (p.Arg1705=)
c.5008A>C (p.Arg1670=)
c.4999A>C (p.Arg1667=)
c.4960A>C (p.Arg1654=)
c.4906A>C (p.Arg1636=)
c.4810A>C (p.Arg1604=)
c.4780A>C (p.Arg1594=)
c.4705A>C (p.Arg1569=)
c.4603A>C (p.Arg1535=)
c.4234A>C (p.Arg1412=)
5g.112840677A>GCA040621APCc.5137A>G (p.Arg1713Gly)
c.*5089A>G (n.*5089A>G)
c.5029A>G (p.Arg1677Gly)
c.5083A>G (p.Arg1695Gly)
c.*4405A>G (n.*4405A>G)
c.230+11705A>G
c.5113A>G (p.Arg1705Gly)
c.5008A>G (p.Arg1670Gly)
c.4999A>G (p.Arg1667Gly)
c.4960A>G (p.Arg1654Gly)
c.4906A>G (p.Arg1636Gly)
c.4810A>G (p.Arg1604Gly)
c.4780A>G (p.Arg1594Gly)
c.4705A>G (p.Arg1569Gly)
c.4603A>G (p.Arg1535Gly)
c.4234A>G (p.Arg1412Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840677A>TCA16032443APCc.5137A>T (p.Arg1713Ter)
c.*5089A>T (n.*5089A>T)
c.5029A>T (p.Arg1677Ter)
c.5083A>T (p.Arg1695Ter)
c.*4405A>T (n.*4405A>T)
c.230+11705A>T
c.5113A>T (p.Arg1705Ter)
c.5008A>T (p.Arg1670Ter)
c.4999A>T (p.Arg1667Ter)
c.4960A>T (p.Arg1654Ter)
c.4906A>T (p.Arg1636Ter)
c.4810A>T (p.Arg1604Ter)
c.4780A>T (p.Arg1594Ter)
c.4705A>T (p.Arg1569Ter)
c.4603A>T (p.Arg1535Ter)
c.4234A>T (p.Arg1412Ter)
 ClinVar
5g.112840678G>ACA16032444APCc.5138G>A (p.Arg1713Lys)
c.*5090G>A (n.*5090G>A)
c.5030G>A (p.Arg1677Lys)
c.5084G>A (p.Arg1695Lys)
c.*4406G>A (n.*4406G>A)
c.230+11706G>A
c.5114G>A (p.Arg1705Lys)
c.5009G>A (p.Arg1670Lys)
c.5000G>A (p.Arg1667Lys)
c.4961G>A (p.Arg1654Lys)
c.4907G>A (p.Arg1636Lys)
c.4811G>A (p.Arg1604Lys)
c.4781G>A (p.Arg1594Lys)
c.4706G>A (p.Arg1569Lys)
c.4604G>A (p.Arg1535Lys)
c.4235G>A (p.Arg1412Lys)
 ClinVar dbSNP gnomAD v4
5g.112840678G>CCA16032445APCc.5138G>C (p.Arg1713Thr)
c.*5090G>C (n.*5090G>C)
c.5030G>C (p.Arg1677Thr)
c.5084G>C (p.Arg1695Thr)
c.*4406G>C (n.*4406G>C)
c.230+11706G>C
c.5114G>C (p.Arg1705Thr)
c.5009G>C (p.Arg1670Thr)
c.5000G>C (p.Arg1667Thr)
c.4961G>C (p.Arg1654Thr)
c.4907G>C (p.Arg1636Thr)
c.4811G>C (p.Arg1604Thr)
c.4781G>C (p.Arg1594Thr)
c.4706G>C (p.Arg1569Thr)
c.4604G>C (p.Arg1535Thr)
c.4235G>C (p.Arg1412Thr)
 ClinVar dbSNP
5g.112840678G>TCA16032446APCc.5138G>T (p.Arg1713Ile)
c.*5090G>T (n.*5090G>T)
c.5030G>T (p.Arg1677Ile)
c.5084G>T (p.Arg1695Ile)
c.*4406G>T (n.*4406G>T)
c.230+11706G>T
c.5114G>T (p.Arg1705Ile)
c.5009G>T (p.Arg1670Ile)
c.5000G>T (p.Arg1667Ile)
c.4961G>T (p.Arg1654Ile)
c.4907G>T (p.Arg1636Ile)
c.4811G>T (p.Arg1604Ile)
c.4781G>T (p.Arg1594Ile)
c.4706G>T (p.Arg1569Ile)
c.4604G>T (p.Arg1535Ile)
c.4235G>T (p.Arg1412Ile)
5g.112840679A=CA1573473704APCc.5139A= (p.Arg1713=)
c.*5091A= (n.*5091A=)
c.5031A= (p.Arg1677=)
c.5085A= (p.Arg1695=)
c.*4407A= (n.*4407A=)
c.230+11707A=
c.5115A= (p.Arg1705=)
c.5010A= (p.Arg1670=)
c.5001A= (p.Arg1667=)
c.4962A= (p.Arg1654=)
c.4908A= (p.Arg1636=)
c.4812A= (p.Arg1604=)
c.4782A= (p.Arg1594=)
c.4707A= (p.Arg1569=)
c.4605A= (p.Arg1535=)
c.4236A= (p.Arg1412=)
5g.112840679A>CCA16032447APCc.5139A>C (p.Arg1713Ser)
c.*5091A>C (n.*5091A>C)
c.5031A>C (p.Arg1677Ser)
c.5085A>C (p.Arg1695Ser)
c.*4407A>C (n.*4407A>C)
c.230+11707A>C
c.5115A>C (p.Arg1705Ser)
c.5010A>C (p.Arg1670Ser)
c.5001A>C (p.Arg1667Ser)
c.4962A>C (p.Arg1654Ser)
c.4908A>C (p.Arg1636Ser)
c.4812A>C (p.Arg1604Ser)
c.4782A>C (p.Arg1594Ser)
c.4707A>C (p.Arg1569Ser)
c.4605A>C (p.Arg1535Ser)
c.4236A>C (p.Arg1412Ser)
 dbSNP
5g.112840679A>GCA446209567APCc.5139A>G (p.Arg1713=)
c.*5091A>G (n.*5091A>G)
c.5031A>G (p.Arg1677=)
c.5085A>G (p.Arg1695=)
c.*4407A>G (n.*4407A>G)
c.230+11707A>G
c.5115A>G (p.Arg1705=)
c.5010A>G (p.Arg1670=)
c.5001A>G (p.Arg1667=)
c.4962A>G (p.Arg1654=)
c.4908A>G (p.Arg1636=)
c.4812A>G (p.Arg1604=)
c.4782A>G (p.Arg1594=)
c.4707A>G (p.Arg1569=)
c.4605A>G (p.Arg1535=)
c.4236A>G (p.Arg1412=)
 ClinVar dbSNP
5g.112840679A>TCA16032448APCc.5139A>T (p.Arg1713Ser)
c.*5091A>T (n.*5091A>T)
c.5031A>T (p.Arg1677Ser)
c.5085A>T (p.Arg1695Ser)
c.*4407A>T (n.*4407A>T)
c.230+11707A>T
c.5115A>T (p.Arg1705Ser)
c.5010A>T (p.Arg1670Ser)
c.5001A>T (p.Arg1667Ser)
c.4962A>T (p.Arg1654Ser)
c.4908A>T (p.Arg1636Ser)
c.4812A>T (p.Arg1604Ser)
c.4782A>T (p.Arg1594Ser)
c.4707A>T (p.Arg1569Ser)
c.4605A>T (p.Arg1535Ser)
c.4236A>T (p.Arg1412Ser)
 ClinVar dbSNP
5g.112840680A=CA1573473714APCc.5140A= (p.Ser1714=)
c.*5092A= (n.*5092A=)
c.5032A= (p.Ser1678=)
c.5086A= (p.Ser1696=)
c.*4408A= (n.*4408A=)
c.230+11708A=
c.5116A= (p.Ser1706=)
c.5011A= (p.Ser1671=)
c.5002A= (p.Ser1668=)
c.4963A= (p.Ser1655=)
c.4909A= (p.Ser1637=)
c.4813A= (p.Ser1605=)
c.4783A= (p.Ser1595=)
c.4708A= (p.Ser1570=)
c.4606A= (p.Ser1536=)
c.4237A= (p.Ser1413=)
5g.112840680A>CCA16032449APCc.5140A>C (p.Ser1714Arg)
c.*5092A>C (n.*5092A>C)
c.5032A>C (p.Ser1678Arg)
c.5086A>C (p.Ser1696Arg)
c.*4408A>C (n.*4408A>C)
c.230+11708A>C
c.5116A>C (p.Ser1706Arg)
c.5011A>C (p.Ser1671Arg)
c.5002A>C (p.Ser1668Arg)
c.4963A>C (p.Ser1655Arg)
c.4909A>C (p.Ser1637Arg)
c.4813A>C (p.Ser1605Arg)
c.4783A>C (p.Ser1595Arg)
c.4708A>C (p.Ser1570Arg)
c.4606A>C (p.Ser1536Arg)
c.4237A>C (p.Ser1413Arg)
5g.112840680A>GCA16032450APCc.5140A>G (p.Ser1714Gly)
c.*5092A>G (n.*5092A>G)
c.5032A>G (p.Ser1678Gly)
c.5086A>G (p.Ser1696Gly)
c.*4408A>G (n.*4408A>G)
c.230+11708A>G
c.5116A>G (p.Ser1706Gly)
c.5011A>G (p.Ser1671Gly)
c.5002A>G (p.Ser1668Gly)
c.4963A>G (p.Ser1655Gly)
c.4909A>G (p.Ser1637Gly)
c.4813A>G (p.Ser1605Gly)
c.4783A>G (p.Ser1595Gly)
c.4708A>G (p.Ser1570Gly)
c.4606A>G (p.Ser1536Gly)
c.4237A>G (p.Ser1413Gly)
 ClinVar dbSNP
5g.112840680A>TCA16032451APCc.5140A>T (p.Ser1714Cys)
c.*5092A>T (n.*5092A>T)
c.5032A>T (p.Ser1678Cys)
c.5086A>T (p.Ser1696Cys)
c.*4408A>T (n.*4408A>T)
c.230+11708A>T
c.5116A>T (p.Ser1706Cys)
c.5011A>T (p.Ser1671Cys)
c.5002A>T (p.Ser1668Cys)
c.4963A>T (p.Ser1655Cys)
c.4909A>T (p.Ser1637Cys)
c.4813A>T (p.Ser1605Cys)
c.4783A>T (p.Ser1595Cys)
c.4708A>T (p.Ser1570Cys)
c.4606A>T (p.Ser1536Cys)
c.4237A>T (p.Ser1413Cys)
 dbSNP
5g.112840681G>ACA16032452APCc.5141G>A (p.Ser1714Asn)
c.*5093G>A (n.*5093G>A)
c.5033G>A (p.Ser1678Asn)
c.5087G>A (p.Ser1696Asn)
c.*4409G>A (n.*4409G>A)
c.230+11709G>A
c.5117G>A (p.Ser1706Asn)
c.5012G>A (p.Ser1671Asn)
c.5003G>A (p.Ser1668Asn)
c.4964G>A (p.Ser1655Asn)
c.4910G>A (p.Ser1637Asn)
c.4814G>A (p.Ser1605Asn)
c.4784G>A (p.Ser1595Asn)
c.4709G>A (p.Ser1570Asn)
c.4607G>A (p.Ser1536Asn)
c.4238G>A (p.Ser1413Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112840681G>CCA16032453APCc.5141G>C (p.Ser1714Thr)
c.*5093G>C (n.*5093G>C)
c.5033G>C (p.Ser1678Thr)
c.5087G>C (p.Ser1696Thr)
c.*4409G>C (n.*4409G>C)
c.230+11709G>C
c.5117G>C (p.Ser1706Thr)
c.5012G>C (p.Ser1671Thr)
c.5003G>C (p.Ser1668Thr)
c.4964G>C (p.Ser1655Thr)
c.4910G>C (p.Ser1637Thr)
c.4814G>C (p.Ser1605Thr)
c.4784G>C (p.Ser1595Thr)
c.4709G>C (p.Ser1570Thr)
c.4607G>C (p.Ser1536Thr)
c.4238G>C (p.Ser1413Thr)
 dbSNP
5g.112840681G=CA1573473727APCc.5141G= (p.Ser1714=)
c.*5093G= (n.*5093G=)
c.5033G= (p.Ser1678=)
c.5087G= (p.Ser1696=)
c.*4409G= (n.*4409G=)
c.230+11709G=
c.5117G= (p.Ser1706=)
c.5012G= (p.Ser1671=)
c.5003G= (p.Ser1668=)
c.4964G= (p.Ser1655=)
c.4910G= (p.Ser1637=)
c.4814G= (p.Ser1605=)
c.4784G= (p.Ser1595=)
c.4709G= (p.Ser1570=)
c.4607G= (p.Ser1536=)
c.4238G= (p.Ser1413=)
5g.112840681G>TCA16032454APCc.5141G>T (p.Ser1714Ile)
c.*5093G>T (n.*5093G>T)
c.5033G>T (p.Ser1678Ile)
c.5087G>T (p.Ser1696Ile)
c.*4409G>T (n.*4409G>T)
c.230+11709G>T
c.5117G>T (p.Ser1706Ile)
c.5012G>T (p.Ser1671Ile)
c.5003G>T (p.Ser1668Ile)
c.4964G>T (p.Ser1655Ile)
c.4910G>T (p.Ser1637Ile)
c.4814G>T (p.Ser1605Ile)
c.4784G>T (p.Ser1595Ile)
c.4709G>T (p.Ser1570Ile)
c.4607G>T (p.Ser1536Ile)
c.4238G>T (p.Ser1413Ile)
 dbSNP

Number of alleles fetched