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.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
5g.112840682T>ACA16032455APCc.5142T>A (p.Ser1714Arg)
c.*5094T>A (n.*5094T>A)
c.5034T>A (p.Ser1678Arg)
c.5088T>A (p.Ser1696Arg)
c.*4410T>A (n.*4410T>A)
c.230+11710T>A
c.5118T>A (p.Ser1706Arg)
c.5013T>A (p.Ser1671Arg)
c.5004T>A (p.Ser1668Arg)
c.4965T>A (p.Ser1655Arg)
c.4911T>A (p.Ser1637Arg)
c.4815T>A (p.Ser1605Arg)
c.4785T>A (p.Ser1595Arg)
c.4710T>A (p.Ser1570Arg)
c.4608T>A (p.Ser1536Arg)
c.4239T>A (p.Ser1413Arg)
 dbSNP
5g.112840682T>CCA446209568APCc.5142T>C (p.Ser1714=)
c.*5094T>C (n.*5094T>C)
c.5034T>C (p.Ser1678=)
c.5088T>C (p.Ser1696=)
c.*4410T>C (n.*4410T>C)
c.230+11710T>C
c.5118T>C (p.Ser1706=)
c.5013T>C (p.Ser1671=)
c.5004T>C (p.Ser1668=)
c.4965T>C (p.Ser1655=)
c.4911T>C (p.Ser1637=)
c.4815T>C (p.Ser1605=)
c.4785T>C (p.Ser1595=)
c.4710T>C (p.Ser1570=)
c.4608T>C (p.Ser1536=)
c.4239T>C (p.Ser1413=)
 ClinVar dbSNP
5g.112840682T>GCA16032456APCc.5142T>G (p.Ser1714Arg)
c.*5094T>G (n.*5094T>G)
c.5034T>G (p.Ser1678Arg)
c.5088T>G (p.Ser1696Arg)
c.*4410T>G (n.*4410T>G)
c.230+11710T>G
c.5118T>G (p.Ser1706Arg)
c.5013T>G (p.Ser1671Arg)
c.5004T>G (p.Ser1668Arg)
c.4965T>G (p.Ser1655Arg)
c.4911T>G (p.Ser1637Arg)
c.4815T>G (p.Ser1605Arg)
c.4785T>G (p.Ser1595Arg)
c.4710T>G (p.Ser1570Arg)
c.4608T>G (p.Ser1536Arg)
c.4239T>G (p.Ser1413Arg)
 dbSNP
5g.112840683A=CA1573473734APCc.5143A= (p.Thr1715=)
c.*5095A= (n.*5095A=)
c.5035A= (p.Thr1679=)
c.5089A= (p.Thr1697=)
c.*4411A= (n.*4411A=)
c.230+11711A=
c.5119A= (p.Thr1707=)
c.5014A= (p.Thr1672=)
c.5005A= (p.Thr1669=)
c.4966A= (p.Thr1656=)
c.4912A= (p.Thr1638=)
c.4816A= (p.Thr1606=)
c.4786A= (p.Thr1596=)
c.4711A= (p.Thr1571=)
c.4609A= (p.Thr1537=)
c.4240A= (p.Thr1414=)
5g.112840683A>CCA16032457APCc.5143A>C (p.Thr1715Pro)
c.*5095A>C (n.*5095A>C)
c.5035A>C (p.Thr1679Pro)
c.5089A>C (p.Thr1697Pro)
c.*4411A>C (n.*4411A>C)
c.230+11711A>C
c.5119A>C (p.Thr1707Pro)
c.5014A>C (p.Thr1672Pro)
c.5005A>C (p.Thr1669Pro)
c.4966A>C (p.Thr1656Pro)
c.4912A>C (p.Thr1638Pro)
c.4816A>C (p.Thr1606Pro)
c.4786A>C (p.Thr1596Pro)
c.4711A>C (p.Thr1571Pro)
c.4609A>C (p.Thr1537Pro)
c.4240A>C (p.Thr1414Pro)
 dbSNP
5g.112840683A>GCA10578392APCc.5143A>G (p.Thr1715Ala)
c.*5095A>G (n.*5095A>G)
c.5035A>G (p.Thr1679Ala)
c.5089A>G (p.Thr1697Ala)
c.*4411A>G (n.*4411A>G)
c.230+11711A>G
c.5119A>G (p.Thr1707Ala)
c.5014A>G (p.Thr1672Ala)
c.5005A>G (p.Thr1669Ala)
c.4966A>G (p.Thr1656Ala)
c.4912A>G (p.Thr1638Ala)
c.4816A>G (p.Thr1606Ala)
c.4786A>G (p.Thr1596Ala)
c.4711A>G (p.Thr1571Ala)
c.4609A>G (p.Thr1537Ala)
c.4240A>G (p.Thr1414Ala)
 ClinVar dbSNP gnomAD v4
5g.112840683A>TCA16032458APCc.5143A>T (p.Thr1715Ser)
c.*5095A>T (n.*5095A>T)
c.5035A>T (p.Thr1679Ser)
c.5089A>T (p.Thr1697Ser)
c.*4411A>T (n.*4411A>T)
c.230+11711A>T
c.5119A>T (p.Thr1707Ser)
c.5014A>T (p.Thr1672Ser)
c.5005A>T (p.Thr1669Ser)
c.4966A>T (p.Thr1656Ser)
c.4912A>T (p.Thr1638Ser)
c.4816A>T (p.Thr1606Ser)
c.4786A>T (p.Thr1596Ser)
c.4711A>T (p.Thr1571Ser)
c.4609A>T (p.Thr1537Ser)
c.4240A>T (p.Thr1414Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840684C>ACA16032459APCc.5144C>A (p.Thr1715Lys)
c.*5096C>A (n.*5096C>A)
c.5036C>A (p.Thr1679Lys)
c.5090C>A (p.Thr1697Lys)
c.*4412C>A (n.*4412C>A)
c.230+11712C>A
c.5120C>A (p.Thr1707Lys)
c.5015C>A (p.Thr1672Lys)
c.5006C>A (p.Thr1669Lys)
c.4967C>A (p.Thr1656Lys)
c.4913C>A (p.Thr1638Lys)
c.4817C>A (p.Thr1606Lys)
c.4787C>A (p.Thr1596Lys)
c.4712C>A (p.Thr1571Lys)
c.4610C>A (p.Thr1537Lys)
c.4241C>A (p.Thr1414Lys)
 dbSNP
5g.112840684C=CA1573473741APCc.5144C= (p.Thr1715=)
c.*5096C= (n.*5096C=)
c.5036C= (p.Thr1679=)
c.5090C= (p.Thr1697=)
c.*4412C= (n.*4412C=)
c.230+11712C=
c.5120C= (p.Thr1707=)
c.5015C= (p.Thr1672=)
c.5006C= (p.Thr1669=)
c.4967C= (p.Thr1656=)
c.4913C= (p.Thr1638=)
c.4817C= (p.Thr1606=)
c.4787C= (p.Thr1596=)
c.4712C= (p.Thr1571=)
c.4610C= (p.Thr1537=)
c.4241C= (p.Thr1414=)
5g.112840684C>GCA16032460APCc.5144C>G (p.Thr1715Arg)
c.*5096C>G (n.*5096C>G)
c.5036C>G (p.Thr1679Arg)
c.5090C>G (p.Thr1697Arg)
c.*4412C>G (n.*4412C>G)
c.230+11712C>G
c.5120C>G (p.Thr1707Arg)
c.5015C>G (p.Thr1672Arg)
c.5006C>G (p.Thr1669Arg)
c.4967C>G (p.Thr1656Arg)
c.4913C>G (p.Thr1638Arg)
c.4817C>G (p.Thr1606Arg)
c.4787C>G (p.Thr1596Arg)
c.4712C>G (p.Thr1571Arg)
c.4610C>G (p.Thr1537Arg)
c.4241C>G (p.Thr1414Arg)
 dbSNP
5g.112840684C>TCA16032461APCc.5144C>T (p.Thr1715Ile)
c.*5096C>T (n.*5096C>T)
c.5036C>T (p.Thr1679Ile)
c.5090C>T (p.Thr1697Ile)
c.*4412C>T (n.*4412C>T)
c.230+11712C>T
c.5120C>T (p.Thr1707Ile)
c.5015C>T (p.Thr1672Ile)
c.5006C>T (p.Thr1669Ile)
c.4967C>T (p.Thr1656Ile)
c.4913C>T (p.Thr1638Ile)
c.4817C>T (p.Thr1606Ile)
c.4787C>T (p.Thr1596Ile)
c.4712C>T (p.Thr1571Ile)
c.4610C>T (p.Thr1537Ile)
c.4241C>T (p.Thr1414Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840685A=CA1573473754APCc.5145A= (p.Thr1715=)
c.*5097A= (n.*5097A=)
c.5037A= (p.Thr1679=)
c.5091A= (p.Thr1697=)
c.*4413A= (n.*4413A=)
c.230+11713A=
c.5121A= (p.Thr1707=)
c.5016A= (p.Thr1672=)
c.5007A= (p.Thr1669=)
c.4968A= (p.Thr1656=)
c.4914A= (p.Thr1638=)
c.4818A= (p.Thr1606=)
c.4788A= (p.Thr1596=)
c.4713A= (p.Thr1571=)
c.4611A= (p.Thr1537=)
c.4242A= (p.Thr1414=)
5g.112840685A>CCA446209571APCc.5145A>C (p.Thr1715=)
c.*5097A>C (n.*5097A>C)
c.5037A>C (p.Thr1679=)
c.5091A>C (p.Thr1697=)
c.*4413A>C (n.*4413A>C)
c.230+11713A>C
c.5121A>C (p.Thr1707=)
c.5016A>C (p.Thr1672=)
c.5007A>C (p.Thr1669=)
c.4968A>C (p.Thr1656=)
c.4914A>C (p.Thr1638=)
c.4818A>C (p.Thr1606=)
c.4788A>C (p.Thr1596=)
c.4713A>C (p.Thr1571=)
c.4611A>C (p.Thr1537=)
c.4242A>C (p.Thr1414=)
 gnomAD v4
5g.112840685A>GCA446209570APCc.5145A>G (p.Thr1715=)
c.*5097A>G (n.*5097A>G)
c.5037A>G (p.Thr1679=)
c.5091A>G (p.Thr1697=)
c.*4413A>G (n.*4413A>G)
c.230+11713A>G
c.5121A>G (p.Thr1707=)
c.5016A>G (p.Thr1672=)
c.5007A>G (p.Thr1669=)
c.4968A>G (p.Thr1656=)
c.4914A>G (p.Thr1638=)
c.4818A>G (p.Thr1606=)
c.4788A>G (p.Thr1596=)
c.4713A>G (p.Thr1571=)
c.4611A>G (p.Thr1537=)
c.4242A>G (p.Thr1414=)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112840685A>TCA446209569APCc.5145A>T (p.Thr1715=)
c.*5097A>T (n.*5097A>T)
c.5037A>T (p.Thr1679=)
c.5091A>T (p.Thr1697=)
c.*4413A>T (n.*4413A>T)
c.230+11713A>T
c.5121A>T (p.Thr1707=)
c.5016A>T (p.Thr1672=)
c.5007A>T (p.Thr1669=)
c.4968A>T (p.Thr1656=)
c.4914A>T (p.Thr1638=)
c.4818A>T (p.Thr1606=)
c.4788A>T (p.Thr1596=)
c.4713A>T (p.Thr1571=)
c.4611A>T (p.Thr1537=)
c.4242A>T (p.Thr1414=)
 dbSNP
5g.112840686G>ACA040634APCc.5146G>A (p.Asp1716Asn)
c.*5098G>A (n.*5098G>A)
c.5038G>A (p.Asp1680Asn)
c.5092G>A (p.Asp1698Asn)
c.*4414G>A (n.*4414G>A)
c.230+11714G>A
c.5122G>A (p.Asp1708Asn)
c.5017G>A (p.Asp1673Asn)
c.5008G>A (p.Asp1670Asn)
c.4969G>A (p.Asp1657Asn)
c.4915G>A (p.Asp1639Asn)
c.4819G>A (p.Asp1607Asn)
c.4789G>A (p.Asp1597Asn)
c.4714G>A (p.Asp1572Asn)
c.4612G>A (p.Asp1538Asn)
c.4243G>A (p.Asp1415Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840686G>CCA16032462APCc.5146G>C (p.Asp1716His)
c.*5098G>C (n.*5098G>C)
c.5038G>C (p.Asp1680His)
c.5092G>C (p.Asp1698His)
c.*4414G>C (n.*4414G>C)
c.230+11714G>C
c.5122G>C (p.Asp1708His)
c.5017G>C (p.Asp1673His)
c.5008G>C (p.Asp1670His)
c.4969G>C (p.Asp1657His)
c.4915G>C (p.Asp1639His)
c.4819G>C (p.Asp1607His)
c.4789G>C (p.Asp1597His)
c.4714G>C (p.Asp1572His)
c.4612G>C (p.Asp1538His)
c.4243G>C (p.Asp1415His)
 dbSNP
5g.112840686G=CA1573473772APCc.5146G= (p.Asp1716=)
c.*5098G= (n.*5098G=)
c.5038G= (p.Asp1680=)
c.5092G= (p.Asp1698=)
c.*4414G= (n.*4414G=)
c.230+11714G=
c.5122G= (p.Asp1708=)
c.5017G= (p.Asp1673=)
c.5008G= (p.Asp1670=)
c.4969G= (p.Asp1657=)
c.4915G= (p.Asp1639=)
c.4819G= (p.Asp1607=)
c.4789G= (p.Asp1597=)
c.4714G= (p.Asp1572=)
c.4612G= (p.Asp1538=)
c.4243G= (p.Asp1415=)
5g.112840686G>TCA16032463APCc.5146G>T (p.Asp1716Tyr)
c.*5098G>T (n.*5098G>T)
c.5038G>T (p.Asp1680Tyr)
c.5092G>T (p.Asp1698Tyr)
c.*4414G>T (n.*4414G>T)
c.230+11714G>T
c.5122G>T (p.Asp1708Tyr)
c.5017G>T (p.Asp1673Tyr)
c.5008G>T (p.Asp1670Tyr)
c.4969G>T (p.Asp1657Tyr)
c.4915G>T (p.Asp1639Tyr)
c.4819G>T (p.Asp1607Tyr)
c.4789G>T (p.Asp1597Tyr)
c.4714G>T (p.Asp1572Tyr)
c.4612G>T (p.Asp1538Tyr)
c.4243G>T (p.Asp1415Tyr)
 dbSNP
5g.112840687A=CA1573473780APCc.5147A= (p.Asp1716=)
c.*5099A= (n.*5099A=)
c.5039A= (p.Asp1680=)
c.5093A= (p.Asp1698=)
c.*4415A= (n.*4415A=)
c.230+11715A=
c.5123A= (p.Asp1708=)
c.5018A= (p.Asp1673=)
c.5009A= (p.Asp1670=)
c.4970A= (p.Asp1657=)
c.4916A= (p.Asp1639=)
c.4820A= (p.Asp1607=)
c.4790A= (p.Asp1597=)
c.4715A= (p.Asp1572=)
c.4613A= (p.Asp1538=)
c.4244A= (p.Asp1415=)
5g.112840687A>CCA16032464APCc.5147A>C (p.Asp1716Ala)
c.*5099A>C (n.*5099A>C)
c.5039A>C (p.Asp1680Ala)
c.5093A>C (p.Asp1698Ala)
c.*4415A>C (n.*4415A>C)
c.230+11715A>C
c.5123A>C (p.Asp1708Ala)
c.5018A>C (p.Asp1673Ala)
c.5009A>C (p.Asp1670Ala)
c.4970A>C (p.Asp1657Ala)
c.4916A>C (p.Asp1639Ala)
c.4820A>C (p.Asp1607Ala)
c.4790A>C (p.Asp1597Ala)
c.4715A>C (p.Asp1572Ala)
c.4613A>C (p.Asp1538Ala)
c.4244A>C (p.Asp1415Ala)
5g.112840687A>GCA16032465APCc.5147A>G (p.Asp1716Gly)
c.*5099A>G (n.*5099A>G)
c.5039A>G (p.Asp1680Gly)
c.5093A>G (p.Asp1698Gly)
c.*4415A>G (n.*4415A>G)
c.230+11715A>G
c.5123A>G (p.Asp1708Gly)
c.5018A>G (p.Asp1673Gly)
c.5009A>G (p.Asp1670Gly)
c.4970A>G (p.Asp1657Gly)
c.4916A>G (p.Asp1639Gly)
c.4820A>G (p.Asp1607Gly)
c.4790A>G (p.Asp1597Gly)
c.4715A>G (p.Asp1572Gly)
c.4613A>G (p.Asp1538Gly)
c.4244A>G (p.Asp1415Gly)
 ClinVar
5g.112840687A>TCA16032466APCc.5147A>T (p.Asp1716Val)
c.*5099A>T (n.*5099A>T)
c.5039A>T (p.Asp1680Val)
c.5093A>T (p.Asp1698Val)
c.*4415A>T (n.*4415A>T)
c.230+11715A>T
c.5123A>T (p.Asp1708Val)
c.5018A>T (p.Asp1673Val)
c.5009A>T (p.Asp1670Val)
c.4970A>T (p.Asp1657Val)
c.4916A>T (p.Asp1639Val)
c.4820A>T (p.Asp1607Val)
c.4790A>T (p.Asp1597Val)
c.4715A>T (p.Asp1572Val)
c.4613A>T (p.Asp1538Val)
c.4244A>T (p.Asp1415Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840688T>ACA16032467APCc.5148T>A (p.Asp1716Glu)
c.*5100T>A (n.*5100T>A)
c.5040T>A (p.Asp1680Glu)
c.5094T>A (p.Asp1698Glu)
c.*4416T>A (n.*4416T>A)
c.230+11716T>A
c.5124T>A (p.Asp1708Glu)
c.5019T>A (p.Asp1673Glu)
c.5010T>A (p.Asp1670Glu)
c.4971T>A (p.Asp1657Glu)
c.4917T>A (p.Asp1639Glu)
c.4821T>A (p.Asp1607Glu)
c.4791T>A (p.Asp1597Glu)
c.4716T>A (p.Asp1572Glu)
c.4614T>A (p.Asp1538Glu)
c.4245T>A (p.Asp1415Glu)
 dbSNP
5g.112840688T>CCA446209572APCc.5148T>C (p.Asp1716=)
c.*5100T>C (n.*5100T>C)
c.5040T>C (p.Asp1680=)
c.5094T>C (p.Asp1698=)
c.*4416T>C (n.*4416T>C)
c.230+11716T>C
c.5124T>C (p.Asp1708=)
c.5019T>C (p.Asp1673=)
c.5010T>C (p.Asp1670=)
c.4971T>C (p.Asp1657=)
c.4917T>C (p.Asp1639=)
c.4821T>C (p.Asp1607=)
c.4791T>C (p.Asp1597=)
c.4716T>C (p.Asp1572=)
c.4614T>C (p.Asp1538=)
c.4245T>C (p.Asp1415=)
 ClinVar dbSNP
5g.112840688T>GCA16032468APCc.5148T>G (p.Asp1716Glu)
c.*5100T>G (n.*5100T>G)
c.5040T>G (p.Asp1680Glu)
c.5094T>G (p.Asp1698Glu)
c.*4416T>G (n.*4416T>G)
c.230+11716T>G
c.5124T>G (p.Asp1708Glu)
c.5019T>G (p.Asp1673Glu)
c.5010T>G (p.Asp1670Glu)
c.4971T>G (p.Asp1657Glu)
c.4917T>G (p.Asp1639Glu)
c.4821T>G (p.Asp1607Glu)
c.4791T>G (p.Asp1597Glu)
c.4716T>G (p.Asp1572Glu)
c.4614T>G (p.Asp1538Glu)
c.4245T>G (p.Asp1415Glu)
 dbSNP
5g.112840689G>ACA16032469APCc.5149G>A (p.Glu1717Lys)
c.*5101G>A (n.*5101G>A)
c.5041G>A (p.Glu1681Lys)
c.5095G>A (p.Glu1699Lys)
c.*4417G>A (n.*4417G>A)
c.230+11717G>A
c.5125G>A (p.Glu1709Lys)
c.5020G>A (p.Glu1674Lys)
c.5011G>A (p.Glu1671Lys)
c.4972G>A (p.Glu1658Lys)
c.4918G>A (p.Glu1640Lys)
c.4822G>A (p.Glu1608Lys)
c.4792G>A (p.Glu1598Lys)
c.4717G>A (p.Glu1573Lys)
c.4615G>A (p.Glu1539Lys)
c.4246G>A (p.Glu1416Lys)
 dbSNP
5g.112840689G>CCA16032470APCc.5149G>C (p.Glu1717Gln)
c.*5101G>C (n.*5101G>C)
c.5041G>C (p.Glu1681Gln)
c.5095G>C (p.Glu1699Gln)
c.*4417G>C (n.*4417G>C)
c.230+11717G>C
c.5125G>C (p.Glu1709Gln)
c.5020G>C (p.Glu1674Gln)
c.5011G>C (p.Glu1671Gln)
c.4972G>C (p.Glu1658Gln)
c.4918G>C (p.Glu1640Gln)
c.4822G>C (p.Glu1608Gln)
c.4792G>C (p.Glu1598Gln)
c.4717G>C (p.Glu1573Gln)
c.4615G>C (p.Glu1539Gln)
c.4246G>C (p.Glu1416Gln)
 dbSNP
5g.112840689G>TCA16032471APCc.5149G>T (p.Glu1717Ter)
c.*5101G>T (n.*5101G>T)
c.5041G>T (p.Glu1681Ter)
c.5095G>T (p.Glu1699Ter)
c.*4417G>T (n.*4417G>T)
c.230+11717G>T
c.5125G>T (p.Glu1709Ter)
c.5020G>T (p.Glu1674Ter)
c.5011G>T (p.Glu1671Ter)
c.4972G>T (p.Glu1658Ter)
c.4918G>T (p.Glu1640Ter)
c.4822G>T (p.Glu1608Ter)
c.4792G>T (p.Glu1598Ter)
c.4717G>T (p.Glu1573Ter)
c.4615G>T (p.Glu1539Ter)
c.4246G>T (p.Glu1416Ter)
 dbSNP COSMIC
5g.112840690_112840692delCA2710010758APCc.5150_5152del (p.Glu1717del)
c.*5102_*5104del (n.*5102_*5104del)
c.5042_5044del (p.Glu1681del)
c.5096_5098del (p.Glu1699del)
c.*4418_*4420del (n.*4418_*4420del)
c.230+11718_230+11720del
c.5126_5128del (p.Glu1709del)
c.5021_5023del (p.Glu1674del)
c.5012_5014del (p.Glu1671del)
c.4973_4975del (p.Glu1658del)
c.4919_4921del (p.Glu1640del)
c.4823_4825del (p.Glu1608del)
c.4793_4795del (p.Glu1598del)
c.4718_4720del (p.Glu1573del)
c.4616_4618del (p.Glu1539del)
c.4247_4249del (p.Glu1416del)
 dbSNP
5g.112840690A>CCA16032472APCc.5150A>C (p.Glu1717Ala)
c.*5102A>C (n.*5102A>C)
c.5042A>C (p.Glu1681Ala)
c.5096A>C (p.Glu1699Ala)
c.*4418A>C (n.*4418A>C)
c.230+11718A>C
c.5126A>C (p.Glu1709Ala)
c.5021A>C (p.Glu1674Ala)
c.5012A>C (p.Glu1671Ala)
c.4973A>C (p.Glu1658Ala)
c.4919A>C (p.Glu1640Ala)
c.4823A>C (p.Glu1608Ala)
c.4793A>C (p.Glu1598Ala)
c.4718A>C (p.Glu1573Ala)
c.4616A>C (p.Glu1539Ala)
c.4247A>C (p.Glu1416Ala)
 ClinVar
5g.112840690A>GCA16032473APCc.5150A>G (p.Glu1717Gly)
c.*5102A>G (n.*5102A>G)
c.5042A>G (p.Glu1681Gly)
c.5096A>G (p.Glu1699Gly)
c.*4418A>G (n.*4418A>G)
c.230+11718A>G
c.5126A>G (p.Glu1709Gly)
c.5021A>G (p.Glu1674Gly)
c.5012A>G (p.Glu1671Gly)
c.4973A>G (p.Glu1658Gly)
c.4919A>G (p.Glu1640Gly)
c.4823A>G (p.Glu1608Gly)
c.4793A>G (p.Glu1598Gly)
c.4718A>G (p.Glu1573Gly)
c.4616A>G (p.Glu1539Gly)
c.4247A>G (p.Glu1416Gly)
 dbSNP
5g.112840690A>TCA16032474APCc.5150A>T (p.Glu1717Val)
c.*5102A>T (n.*5102A>T)
c.5042A>T (p.Glu1681Val)
c.5096A>T (p.Glu1699Val)
c.*4418A>T (n.*4418A>T)
c.230+11718A>T
c.5126A>T (p.Glu1709Val)
c.5021A>T (p.Glu1674Val)
c.5012A>T (p.Glu1671Val)
c.4973A>T (p.Glu1658Val)
c.4919A>T (p.Glu1640Val)
c.4823A>T (p.Glu1608Val)
c.4793A>T (p.Glu1598Val)
c.4718A>T (p.Glu1573Val)
c.4616A>T (p.Glu1539Val)
c.4247A>T (p.Glu1416Val)
 dbSNP
5g.112840691G>ACA446209573APCc.5151G>A (p.Glu1717=)
c.*5103G>A (n.*5103G>A)
c.5043G>A (p.Glu1681=)
c.5097G>A (p.Glu1699=)
c.*4419G>A (n.*4419G>A)
c.230+11719G>A
c.5127G>A (p.Glu1709=)
c.5022G>A (p.Glu1674=)
c.5013G>A (p.Glu1671=)
c.4974G>A (p.Glu1658=)
c.4920G>A (p.Glu1640=)
c.4824G>A (p.Glu1608=)
c.4794G>A (p.Glu1598=)
c.4719G>A (p.Glu1573=)
c.4617G>A (p.Glu1539=)
c.4248G>A (p.Glu1416=)
 ClinVar dbSNP gnomAD v4
5g.112840691G>CCA16032475APCc.5151G>C (p.Glu1717Asp)
c.*5103G>C (n.*5103G>C)
c.5043G>C (p.Glu1681Asp)
c.5097G>C (p.Glu1699Asp)
c.*4419G>C (n.*4419G>C)
c.230+11719G>C
c.5127G>C (p.Glu1709Asp)
c.5022G>C (p.Glu1674Asp)
c.5013G>C (p.Glu1671Asp)
c.4974G>C (p.Glu1658Asp)
c.4920G>C (p.Glu1640Asp)
c.4824G>C (p.Glu1608Asp)
c.4794G>C (p.Glu1598Asp)
c.4719G>C (p.Glu1573Asp)
c.4617G>C (p.Glu1539Asp)
c.4248G>C (p.Glu1416Asp)
 dbSNP
5g.112840691G=CA1573473784APCc.5151G= (p.Glu1717=)
c.*5103G= (n.*5103G=)
c.5043G= (p.Glu1681=)
c.5097G= (p.Glu1699=)
c.*4419G= (n.*4419G=)
c.230+11719G=
c.5127G= (p.Glu1709=)
c.5022G= (p.Glu1674=)
c.5013G= (p.Glu1671=)
c.4974G= (p.Glu1658=)
c.4920G= (p.Glu1640=)
c.4824G= (p.Glu1608=)
c.4794G= (p.Glu1598=)
c.4719G= (p.Glu1573=)
c.4617G= (p.Glu1539=)
c.4248G= (p.Glu1416=)
5g.112840691G>TCA16032476APCc.5151G>T (p.Glu1717Asp)
c.*5103G>T (n.*5103G>T)
c.5043G>T (p.Glu1681Asp)
c.5097G>T (p.Glu1699Asp)
c.*4419G>T (n.*4419G>T)
c.230+11719G>T
c.5127G>T (p.Glu1709Asp)
c.5022G>T (p.Glu1674Asp)
c.5013G>T (p.Glu1671Asp)
c.4974G>T (p.Glu1658Asp)
c.4920G>T (p.Glu1640Asp)
c.4824G>T (p.Glu1608Asp)
c.4794G>T (p.Glu1598Asp)
c.4719G>T (p.Glu1573Asp)
c.4617G>T (p.Glu1539Asp)
c.4248G>T (p.Glu1416Asp)
 ClinVar dbSNP
5g.112840692G>ACA16032477APCc.5152G>A (p.Ala1718Thr)
c.*5104G>A (n.*5104G>A)
c.5044G>A (p.Ala1682Thr)
c.5098G>A (p.Ala1700Thr)
c.*4420G>A (n.*4420G>A)
c.230+11720G>A
c.5128G>A (p.Ala1710Thr)
c.5023G>A (p.Ala1675Thr)
c.5014G>A (p.Ala1672Thr)
c.4975G>A (p.Ala1659Thr)
c.4921G>A (p.Ala1641Thr)
c.4825G>A (p.Ala1609Thr)
c.4795G>A (p.Ala1599Thr)
c.4720G>A (p.Ala1574Thr)
c.4618G>A (p.Ala1540Thr)
c.4249G>A (p.Ala1417Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840692G>CCA16032478APCc.5152G>C (p.Ala1718Pro)
c.*5104G>C (n.*5104G>C)
c.5044G>C (p.Ala1682Pro)
c.5098G>C (p.Ala1700Pro)
c.*4420G>C (n.*4420G>C)
c.230+11720G>C
c.5128G>C (p.Ala1710Pro)
c.5023G>C (p.Ala1675Pro)
c.5014G>C (p.Ala1672Pro)
c.4975G>C (p.Ala1659Pro)
c.4921G>C (p.Ala1641Pro)
c.4825G>C (p.Ala1609Pro)
c.4795G>C (p.Ala1599Pro)
c.4720G>C (p.Ala1574Pro)
c.4618G>C (p.Ala1540Pro)
c.4249G>C (p.Ala1417Pro)
 ClinVar dbSNP
5g.112840692G=CA1573473795APCc.5152G= (p.Ala1718=)
c.*5104G= (n.*5104G=)
c.5044G= (p.Ala1682=)
c.5098G= (p.Ala1700=)
c.*4420G= (n.*4420G=)
c.230+11720G=
c.5128G= (p.Ala1710=)
c.5023G= (p.Ala1675=)
c.5014G= (p.Ala1672=)
c.4975G= (p.Ala1659=)
c.4921G= (p.Ala1641=)
c.4825G= (p.Ala1609=)
c.4795G= (p.Ala1599=)
c.4720G= (p.Ala1574=)
c.4618G= (p.Ala1540=)
c.4249G= (p.Ala1417=)
5g.112840692G>TCA16032479APCc.5152G>T (p.Ala1718Ser)
c.*5104G>T (n.*5104G>T)
c.5044G>T (p.Ala1682Ser)
c.5098G>T (p.Ala1700Ser)
c.*4420G>T (n.*4420G>T)
c.230+11720G>T
c.5128G>T (p.Ala1710Ser)
c.5023G>T (p.Ala1675Ser)
c.5014G>T (p.Ala1672Ser)
c.4975G>T (p.Ala1659Ser)
c.4921G>T (p.Ala1641Ser)
c.4825G>T (p.Ala1609Ser)
c.4795G>T (p.Ala1599Ser)
c.4720G>T (p.Ala1574Ser)
c.4618G>T (p.Ala1540Ser)
c.4249G>T (p.Ala1417Ser)
 ClinVar dbSNP gnomAD v4
5g.112840692_112840693insTTTTTCCA2767942013APCc.5152_5153insTTTTTC (p.Ala1718delinsValPhePro)
c.*5104_*5105insTTTTTC (n.*5104_*5105insTTTTTC)
c.5044_5045insTTTTTC (p.Ala1682delinsValPhePro)
c.5098_5099insTTTTTC (p.Ala1700delinsValPhePro)
c.*4420_*4421insTTTTTC (n.*4420_*4421insTTTTTC)
c.230+11720_230+11721insTTTTTC
c.5128_5129insTTTTTC (p.Ala1710delinsValPhePro)
c.5023_5024insTTTTTC (p.Ala1675delinsValPhePro)
c.5014_5015insTTTTTC (p.Ala1672delinsValPhePro)
c.4975_4976insTTTTTC (p.Ala1659delinsValPhePro)
c.4921_4922insTTTTTC (p.Ala1641delinsValPhePro)
c.4825_4826insTTTTTC (p.Ala1609delinsValPhePro)
c.4795_4796insTTTTTC (p.Ala1599delinsValPhePro)
c.4720_4721insTTTTTC (p.Ala1574delinsValPhePro)
c.4618_4619insTTTTTC (p.Ala1540delinsValPhePro)
c.4249_4250insTTTTTC (p.Ala1417delinsValPhePro)
5g.112840693C>ACA16032480APCc.5153C>A (p.Ala1718Asp)
c.*5105C>A (n.*5105C>A)
c.5045C>A (p.Ala1682Asp)
c.5099C>A (p.Ala1700Asp)
c.*4421C>A (n.*4421C>A)
c.230+11721C>A
c.5129C>A (p.Ala1710Asp)
c.5024C>A (p.Ala1675Asp)
c.5015C>A (p.Ala1672Asp)
c.4976C>A (p.Ala1659Asp)
c.4922C>A (p.Ala1641Asp)
c.4826C>A (p.Ala1609Asp)
c.4796C>A (p.Ala1599Asp)
c.4721C>A (p.Ala1574Asp)
c.4619C>A (p.Ala1540Asp)
c.4250C>A (p.Ala1417Asp)
5g.112840693C=CA1573473805APCc.5153C= (p.Ala1718=)
c.*5105C= (n.*5105C=)
c.5045C= (p.Ala1682=)
c.5099C= (p.Ala1700=)
c.*4421C= (n.*4421C=)
c.230+11721C=
c.5129C= (p.Ala1710=)
c.5024C= (p.Ala1675=)
c.5015C= (p.Ala1672=)
c.4976C= (p.Ala1659=)
c.4922C= (p.Ala1641=)
c.4826C= (p.Ala1609=)
c.4796C= (p.Ala1599=)
c.4721C= (p.Ala1574=)
c.4619C= (p.Ala1540=)
c.4250C= (p.Ala1417=)
5g.112840693C>GCA16032481APCc.5153C>G (p.Ala1718Gly)
c.*5105C>G (n.*5105C>G)
c.5045C>G (p.Ala1682Gly)
c.5099C>G (p.Ala1700Gly)
c.*4421C>G (n.*4421C>G)
c.230+11721C>G
c.5129C>G (p.Ala1710Gly)
c.5024C>G (p.Ala1675Gly)
c.5015C>G (p.Ala1672Gly)
c.4976C>G (p.Ala1659Gly)
c.4922C>G (p.Ala1641Gly)
c.4826C>G (p.Ala1609Gly)
c.4796C>G (p.Ala1599Gly)
c.4721C>G (p.Ala1574Gly)
c.4619C>G (p.Ala1540Gly)
c.4250C>G (p.Ala1417Gly)
 ClinVar dbSNP
5g.112840693C>TCA10578393APCc.5153C>T (p.Ala1718Val)
c.*5105C>T (n.*5105C>T)
c.5045C>T (p.Ala1682Val)
c.5099C>T (p.Ala1700Val)
c.*4421C>T (n.*4421C>T)
c.230+11721C>T
c.5129C>T (p.Ala1710Val)
c.5024C>T (p.Ala1675Val)
c.5015C>T (p.Ala1672Val)
c.4976C>T (p.Ala1659Val)
c.4922C>T (p.Ala1641Val)
c.4826C>T (p.Ala1609Val)
c.4796C>T (p.Ala1599Val)
c.4721C>T (p.Ala1574Val)
c.4619C>T (p.Ala1540Val)
c.4250C>T (p.Ala1417Val)
 ClinVar dbSNP gnomAD v4
5g.112840694T>ACA446209574APCc.5154T>A (p.Ala1718=)
c.*5106T>A (n.*5106T>A)
c.5046T>A (p.Ala1682=)
c.5100T>A (p.Ala1700=)
c.*4422T>A (n.*4422T>A)
c.230+11722T>A
c.5130T>A (p.Ala1710=)
c.5025T>A (p.Ala1675=)
c.5016T>A (p.Ala1672=)
c.4977T>A (p.Ala1659=)
c.4923T>A (p.Ala1641=)
c.4827T>A (p.Ala1609=)
c.4797T>A (p.Ala1599=)
c.4722T>A (p.Ala1574=)
c.4620T>A (p.Ala1540=)
c.4251T>A (p.Ala1417=)
 dbSNP
5g.112840694T>CCA446209575APCc.5154T>C (p.Ala1718=)
c.*5106T>C (n.*5106T>C)
c.5046T>C (p.Ala1682=)
c.5100T>C (p.Ala1700=)
c.*4422T>C (n.*4422T>C)
c.230+11722T>C
c.5130T>C (p.Ala1710=)
c.5025T>C (p.Ala1675=)
c.5016T>C (p.Ala1672=)
c.4977T>C (p.Ala1659=)
c.4923T>C (p.Ala1641=)
c.4827T>C (p.Ala1609=)
c.4797T>C (p.Ala1599=)
c.4722T>C (p.Ala1574=)
c.4620T>C (p.Ala1540=)
c.4251T>C (p.Ala1417=)
 ClinVar dbSNP
5g.112840694T>GCA446209576APCc.5154T>G (p.Ala1718=)
c.*5106T>G (n.*5106T>G)
c.5046T>G (p.Ala1682=)
c.5100T>G (p.Ala1700=)
c.*4422T>G (n.*4422T>G)
c.230+11722T>G
c.5130T>G (p.Ala1710=)
c.5025T>G (p.Ala1675=)
c.5016T>G (p.Ala1672=)
c.4977T>G (p.Ala1659=)
c.4923T>G (p.Ala1641=)
c.4827T>G (p.Ala1609=)
c.4797T>G (p.Ala1599=)
c.4722T>G (p.Ala1574=)
c.4620T>G (p.Ala1540=)
c.4251T>G (p.Ala1417=)
 dbSNP
5g.112840695C>ACA16032482APCc.5155C>A (p.Gln1719Lys)
c.*5107C>A (n.*5107C>A)
c.5047C>A (p.Gln1683Lys)
c.5101C>A (p.Gln1701Lys)
c.*4423C>A (n.*4423C>A)
c.230+11723C>A
c.5131C>A (p.Gln1711Lys)
c.5026C>A (p.Gln1676Lys)
c.5017C>A (p.Gln1673Lys)
c.4978C>A (p.Gln1660Lys)
c.4924C>A (p.Gln1642Lys)
c.4828C>A (p.Gln1610Lys)
c.4798C>A (p.Gln1600Lys)
c.4723C>A (p.Gln1575Lys)
c.4621C>A (p.Gln1541Lys)
c.4252C>A (p.Gln1418Lys)
 dbSNP
5g.112840695C=CA1573473831APCc.5155C= (p.Gln1719=)
c.*5107C= (n.*5107C=)
c.5047C= (p.Gln1683=)
c.5101C= (p.Gln1701=)
c.*4423C= (n.*4423C=)
c.230+11723C=
c.5131C= (p.Gln1711=)
c.5026C= (p.Gln1676=)
c.5017C= (p.Gln1673=)
c.4978C= (p.Gln1660=)
c.4924C= (p.Gln1642=)
c.4828C= (p.Gln1610=)
c.4798C= (p.Gln1600=)
c.4723C= (p.Gln1575=)
c.4621C= (p.Gln1541=)
c.4252C= (p.Gln1418=)
5g.112840695C>GCA16032483APCc.5155C>G (p.Gln1719Glu)
c.*5107C>G (n.*5107C>G)
c.5047C>G (p.Gln1683Glu)
c.5101C>G (p.Gln1701Glu)
c.*4423C>G (n.*4423C>G)
c.230+11723C>G
c.5131C>G (p.Gln1711Glu)
c.5026C>G (p.Gln1676Glu)
c.5017C>G (p.Gln1673Glu)
c.4978C>G (p.Gln1660Glu)
c.4924C>G (p.Gln1642Glu)
c.4828C>G (p.Gln1610Glu)
c.4798C>G (p.Gln1600Glu)
c.4723C>G (p.Gln1575Glu)
c.4621C>G (p.Gln1541Glu)
c.4252C>G (p.Gln1418Glu)
 ClinVar dbSNP gnomAD v4
5g.112840695C>TCA16032484APCc.5155C>T (p.Gln1719Ter)
c.*5107C>T (n.*5107C>T)
c.5047C>T (p.Gln1683Ter)
c.5101C>T (p.Gln1701Ter)
c.*4423C>T (n.*4423C>T)
c.230+11723C>T
c.5131C>T (p.Gln1711Ter)
c.5026C>T (p.Gln1676Ter)
c.5017C>T (p.Gln1673Ter)
c.4978C>T (p.Gln1660Ter)
c.4924C>T (p.Gln1642Ter)
c.4828C>T (p.Gln1610Ter)
c.4798C>T (p.Gln1600Ter)
c.4723C>T (p.Gln1575Ter)
c.4621C>T (p.Gln1541Ter)
c.4252C>T (p.Gln1418Ter)
 ClinVar dbSNP
5g.112840695_112840698delinsCAAGCA1573473813APCc.5155_5158delinsCAAG (p.Gln1719=)
c.*5107_*5110delinsCAAG (n.*5107_*5110delinsCAAG)
c.5047_5050delinsCAAG (p.Gln1683=)
c.5101_5104delinsCAAG (p.Gln1701=)
c.*4423_*4426delinsCAAG (n.*4423_*4426delinsCAAG)
c.230+11723_230+11726delinsCAAG
c.5131_5134delinsCAAG (p.Gln1711=)
c.5026_5029delinsCAAG (p.Gln1676=)
c.5017_5020delinsCAAG (p.Gln1673=)
c.4978_4981delinsCAAG (p.Gln1660=)
c.4924_4927delinsCAAG (p.Gln1642=)
c.4828_4831delinsCAAG (p.Gln1610=)
c.4798_4801delinsCAAG (p.Gln1600=)
c.4723_4726delinsCAAG (p.Gln1575=)
c.4621_4624delinsCAAG (p.Gln1541=)
c.4252_4255delinsCAAG (p.Gln1418=)
5g.112840696A>CCA16032485APCc.5156A>C (p.Gln1719Pro)
c.*5108A>C (n.*5108A>C)
c.5048A>C (p.Gln1683Pro)
c.5102A>C (p.Gln1701Pro)
c.*4424A>C (n.*4424A>C)
c.230+11724A>C
c.5132A>C (p.Gln1711Pro)
c.5027A>C (p.Gln1676Pro)
c.5018A>C (p.Gln1673Pro)
c.4979A>C (p.Gln1660Pro)
c.4925A>C (p.Gln1642Pro)
c.4829A>C (p.Gln1610Pro)
c.4799A>C (p.Gln1600Pro)
c.4724A>C (p.Gln1575Pro)
c.4622A>C (p.Gln1541Pro)
c.4253A>C (p.Gln1418Pro)
 ClinVar gnomAD v4
5g.112840696A>GCA16032486APCc.5156A>G (p.Gln1719Arg)
c.*5108A>G (n.*5108A>G)
c.5048A>G (p.Gln1683Arg)
c.5102A>G (p.Gln1701Arg)
c.*4424A>G (n.*4424A>G)
c.230+11724A>G
c.5132A>G (p.Gln1711Arg)
c.5027A>G (p.Gln1676Arg)
c.5018A>G (p.Gln1673Arg)
c.4979A>G (p.Gln1660Arg)
c.4925A>G (p.Gln1642Arg)
c.4829A>G (p.Gln1610Arg)
c.4799A>G (p.Gln1600Arg)
c.4724A>G (p.Gln1575Arg)
c.4622A>G (p.Gln1541Arg)
c.4253A>G (p.Gln1418Arg)
 dbSNP
5g.112840696A>TCA16032487APCc.5156A>T (p.Gln1719Leu)
c.*5108A>T (n.*5108A>T)
c.5048A>T (p.Gln1683Leu)
c.5102A>T (p.Gln1701Leu)
c.*4424A>T (n.*4424A>T)
c.230+11724A>T
c.5132A>T (p.Gln1711Leu)
c.5027A>T (p.Gln1676Leu)
c.5018A>T (p.Gln1673Leu)
c.4979A>T (p.Gln1660Leu)
c.4925A>T (p.Gln1642Leu)
c.4829A>T (p.Gln1610Leu)
c.4799A>T (p.Gln1600Leu)
c.4724A>T (p.Gln1575Leu)
c.4622A>T (p.Gln1541Leu)
c.4253A>T (p.Gln1418Leu)
 dbSNP
5g.112840696_112840698delCA658683425APCc.5156_5158del (p.Gln1719_Gly1720delinsArg)
c.*5108_*5110del (n.*5108_*5110del)
c.5048_5050del (p.Gln1683_Gly1684delinsArg)
c.5102_5104del (p.Gln1701_Gly1702delinsArg)
c.*4424_*4426del (n.*4424_*4426del)
c.230+11724_230+11726del
c.5132_5134del (p.Gln1711_Gly1712delinsArg)
c.5027_5029del (p.Gln1676_Gly1677delinsArg)
c.5018_5020del (p.Gln1673_Gly1674delinsArg)
c.4979_4981del (p.Gln1660_Gly1661delinsArg)
c.4925_4927del (p.Gln1642_Gly1643delinsArg)
c.4829_4831del (p.Gln1610_Gly1611delinsArg)
c.4799_4801del (p.Gln1600_Gly1601delinsArg)
c.4724_4726del (p.Gln1575_Gly1576delinsArg)
c.4622_4624del (p.Gln1541_Gly1542delinsArg)
c.4253_4255del (p.Gln1418_Gly1419delinsArg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840697A=CA1573473846APCc.5157A= (p.Gln1719=)
c.*5109A= (n.*5109A=)
c.5049A= (p.Gln1683=)
c.5103A= (p.Gln1701=)
c.*4425A= (n.*4425A=)
c.230+11725A=
c.5133A= (p.Gln1711=)
c.5028A= (p.Gln1676=)
c.5019A= (p.Gln1673=)
c.4980A= (p.Gln1660=)
c.4926A= (p.Gln1642=)
c.4830A= (p.Gln1610=)
c.4800A= (p.Gln1600=)
c.4725A= (p.Gln1575=)
c.4623A= (p.Gln1541=)
c.4254A= (p.Gln1418=)
5g.112840697A>CCA16032488APCc.5157A>C (p.Gln1719His)
c.*5109A>C (n.*5109A>C)
c.5049A>C (p.Gln1683His)
c.5103A>C (p.Gln1701His)
c.*4425A>C (n.*4425A>C)
c.230+11725A>C
c.5133A>C (p.Gln1711His)
c.5028A>C (p.Gln1676His)
c.5019A>C (p.Gln1673His)
c.4980A>C (p.Gln1660His)
c.4926A>C (p.Gln1642His)
c.4830A>C (p.Gln1610His)
c.4800A>C (p.Gln1600His)
c.4725A>C (p.Gln1575His)
c.4623A>C (p.Gln1541His)
c.4254A>C (p.Gln1418His)
 ClinVar dbSNP
5g.112840697A>GCA446209578APCc.5157A>G (p.Gln1719=)
c.*5109A>G (n.*5109A>G)
c.5049A>G (p.Gln1683=)
c.5103A>G (p.Gln1701=)
c.*4425A>G (n.*4425A>G)
c.230+11725A>G
c.5133A>G (p.Gln1711=)
c.5028A>G (p.Gln1676=)
c.5019A>G (p.Gln1673=)
c.4980A>G (p.Gln1660=)
c.4926A>G (p.Gln1642=)
c.4830A>G (p.Gln1610=)
c.4800A>G (p.Gln1600=)
c.4725A>G (p.Gln1575=)
c.4623A>G (p.Gln1541=)
c.4254A>G (p.Gln1418=)
 ClinVar
5g.112840697A>TCA16032489APCc.5157A>T (p.Gln1719His)
c.*5109A>T (n.*5109A>T)
c.5049A>T (p.Gln1683His)
c.5103A>T (p.Gln1701His)
c.*4425A>T (n.*4425A>T)
c.230+11725A>T
c.5133A>T (p.Gln1711His)
c.5028A>T (p.Gln1676His)
c.5019A>T (p.Gln1673His)
c.4980A>T (p.Gln1660His)
c.4926A>T (p.Gln1642His)
c.4830A>T (p.Gln1610His)
c.4800A>T (p.Gln1600His)
c.4725A>T (p.Gln1575His)
c.4623A>T (p.Gln1541His)
c.4254A>T (p.Gln1418His)
 ClinVar
5g.112840698G>ACA10578394APCc.5158G>A (p.Gly1720Arg)
c.*5110G>A (n.*5110G>A)
c.5050G>A (p.Gly1684Arg)
c.5104G>A (p.Gly1702Arg)
c.*4426G>A (n.*4426G>A)
c.230+11726G>A
c.5134G>A (p.Gly1712Arg)
c.5029G>A (p.Gly1677Arg)
c.5020G>A (p.Gly1674Arg)
c.4981G>A (p.Gly1661Arg)
c.4927G>A (p.Gly1643Arg)
c.4831G>A (p.Gly1611Arg)
c.4801G>A (p.Gly1601Arg)
c.4726G>A (p.Gly1576Arg)
c.4624G>A (p.Gly1542Arg)
c.4255G>A (p.Gly1419Arg)
 ClinVar dbSNP
5g.112840698G>CCA16032490APCc.5158G>C (p.Gly1720Arg)
c.*5110G>C (n.*5110G>C)
c.5050G>C (p.Gly1684Arg)
c.5104G>C (p.Gly1702Arg)
c.*4426G>C (n.*4426G>C)
c.230+11726G>C
c.5134G>C (p.Gly1712Arg)
c.5029G>C (p.Gly1677Arg)
c.5020G>C (p.Gly1674Arg)
c.4981G>C (p.Gly1661Arg)
c.4927G>C (p.Gly1643Arg)
c.4831G>C (p.Gly1611Arg)
c.4801G>C (p.Gly1601Arg)
c.4726G>C (p.Gly1576Arg)
c.4624G>C (p.Gly1542Arg)
c.4255G>C (p.Gly1419Arg)
 dbSNP
5g.112840698G=CA1573473859APCc.5158G= (p.Gly1720=)
c.*5110G= (n.*5110G=)
c.5050G= (p.Gly1684=)
c.5104G= (p.Gly1702=)
c.*4426G= (n.*4426G=)
c.230+11726G=
c.5134G= (p.Gly1712=)
c.5029G= (p.Gly1677=)
c.5020G= (p.Gly1674=)
c.4981G= (p.Gly1661=)
c.4927G= (p.Gly1643=)
c.4831G= (p.Gly1611=)
c.4801G= (p.Gly1601=)
c.4726G= (p.Gly1576=)
c.4624G= (p.Gly1542=)
c.4255G= (p.Gly1419=)
5g.112840698G>TCA16032491APCc.5158G>T (p.Gly1720Ter)
c.*5110G>T (n.*5110G>T)
c.5050G>T (p.Gly1684Ter)
c.5104G>T (p.Gly1702Ter)
c.*4426G>T (n.*4426G>T)
c.230+11726G>T
c.5134G>T (p.Gly1712Ter)
c.5029G>T (p.Gly1677Ter)
c.5020G>T (p.Gly1674Ter)
c.4981G>T (p.Gly1661Ter)
c.4927G>T (p.Gly1643Ter)
c.4831G>T (p.Gly1611Ter)
c.4801G>T (p.Gly1601Ter)
c.4726G>T (p.Gly1576Ter)
c.4624G>T (p.Gly1542Ter)
c.4255G>T (p.Gly1419Ter)
 dbSNP
5g.112840699G>ACA009865APCc.5159G>A (p.Gly1720Glu)
c.*5111G>A (n.*5111G>A)
c.5051G>A (p.Gly1684Glu)
c.5105G>A (p.Gly1702Glu)
c.*4427G>A (n.*4427G>A)
c.230+11727G>A
c.5135G>A (p.Gly1712Glu)
c.5030G>A (p.Gly1677Glu)
c.5021G>A (p.Gly1674Glu)
c.4982G>A (p.Gly1661Glu)
c.4928G>A (p.Gly1643Glu)
c.4832G>A (p.Gly1611Glu)
c.4802G>A (p.Gly1601Glu)
c.4727G>A (p.Gly1576Glu)
c.4625G>A (p.Gly1542Glu)
c.4256G>A (p.Gly1419Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840699G>CCA16032492APCc.5159G>C (p.Gly1720Ala)
c.*5111G>C (n.*5111G>C)
c.5051G>C (p.Gly1684Ala)
c.5105G>C (p.Gly1702Ala)
c.*4427G>C (n.*4427G>C)
c.230+11727G>C
c.5135G>C (p.Gly1712Ala)
c.5030G>C (p.Gly1677Ala)
c.5021G>C (p.Gly1674Ala)
c.4982G>C (p.Gly1661Ala)
c.4928G>C (p.Gly1643Ala)
c.4832G>C (p.Gly1611Ala)
c.4802G>C (p.Gly1601Ala)
c.4727G>C (p.Gly1576Ala)
c.4625G>C (p.Gly1542Ala)
c.4256G>C (p.Gly1419Ala)
 dbSNP
5g.112840699G=CA1573473866APCc.5159G= (p.Gly1720=)
c.*5111G= (n.*5111G=)
c.5051G= (p.Gly1684=)
c.5105G= (p.Gly1702=)
c.*4427G= (n.*4427G=)
c.230+11727G=
c.5135G= (p.Gly1712=)
c.5030G= (p.Gly1677=)
c.5021G= (p.Gly1674=)
c.4982G= (p.Gly1661=)
c.4928G= (p.Gly1643=)
c.4832G= (p.Gly1611=)
c.4802G= (p.Gly1601=)
c.4727G= (p.Gly1576=)
c.4625G= (p.Gly1542=)
c.4256G= (p.Gly1419=)
5g.112840699G>TCA16032493APCc.5159G>T (p.Gly1720Val)
c.*5111G>T (n.*5111G>T)
c.5051G>T (p.Gly1684Val)
c.5105G>T (p.Gly1702Val)
c.*4427G>T (n.*4427G>T)
c.230+11727G>T
c.5135G>T (p.Gly1712Val)
c.5030G>T (p.Gly1677Val)
c.5021G>T (p.Gly1674Val)
c.4982G>T (p.Gly1661Val)
c.4928G>T (p.Gly1643Val)
c.4832G>T (p.Gly1611Val)
c.4802G>T (p.Gly1601Val)
c.4727G>T (p.Gly1576Val)
c.4625G>T (p.Gly1542Val)
c.4256G>T (p.Gly1419Val)
 dbSNP
5g.112840700A>CCA446209579APCc.5160A>C (p.Gly1720=)
c.*5112A>C (n.*5112A>C)
c.5052A>C (p.Gly1684=)
c.5106A>C (p.Gly1702=)
c.*4428A>C (n.*4428A>C)
c.230+11728A>C
c.5136A>C (p.Gly1712=)
c.5031A>C (p.Gly1677=)
c.5022A>C (p.Gly1674=)
c.4983A>C (p.Gly1661=)
c.4929A>C (p.Gly1643=)
c.4833A>C (p.Gly1611=)
c.4803A>C (p.Gly1601=)
c.4728A>C (p.Gly1576=)
c.4626A>C (p.Gly1542=)
c.4257A>C (p.Gly1419=)
 ClinVar
5g.112840700A>GCA446209580APCc.5160A>G (p.Gly1720=)
c.*5112A>G (n.*5112A>G)
c.5052A>G (p.Gly1684=)
c.5106A>G (p.Gly1702=)
c.*4428A>G (n.*4428A>G)
c.230+11728A>G
c.5136A>G (p.Gly1712=)
c.5031A>G (p.Gly1677=)
c.5022A>G (p.Gly1674=)
c.4983A>G (p.Gly1661=)
c.4929A>G (p.Gly1643=)
c.4833A>G (p.Gly1611=)
c.4803A>G (p.Gly1601=)
c.4728A>G (p.Gly1576=)
c.4626A>G (p.Gly1542=)
c.4257A>G (p.Gly1419=)
5g.112840700A>TCA446209581APCc.5160A>T (p.Gly1720=)
c.*5112A>T (n.*5112A>T)
c.5052A>T (p.Gly1684=)
c.5106A>T (p.Gly1702=)
c.*4428A>T (n.*4428A>T)
c.230+11728A>T
c.5136A>T (p.Gly1712=)
c.5031A>T (p.Gly1677=)
c.5022A>T (p.Gly1674=)
c.4983A>T (p.Gly1661=)
c.4929A>T (p.Gly1643=)
c.4833A>T (p.Gly1611=)
c.4803A>T (p.Gly1601=)
c.4728A>T (p.Gly1576=)
c.4626A>T (p.Gly1542=)
c.4257A>T (p.Gly1419=)
5g.112840701G>ACA16032494APCc.5161G>A (p.Gly1721Arg)
c.*5113G>A (n.*5113G>A)
c.5053G>A (p.Gly1685Arg)
c.5107G>A (p.Gly1703Arg)
c.*4429G>A (n.*4429G>A)
c.230+11729G>A
c.5137G>A (p.Gly1713Arg)
c.5032G>A (p.Gly1678Arg)
c.5023G>A (p.Gly1675Arg)
c.4984G>A (p.Gly1662Arg)
c.4930G>A (p.Gly1644Arg)
c.4834G>A (p.Gly1612Arg)
c.4804G>A (p.Gly1602Arg)
c.4729G>A (p.Gly1577Arg)
c.4627G>A (p.Gly1543Arg)
c.4258G>A (p.Gly1420Arg)
 ClinVar dbSNP
5g.112840701G>CCA16032495APCc.5161G>C (p.Gly1721Arg)
c.*5113G>C (n.*5113G>C)
c.5053G>C (p.Gly1685Arg)
c.5107G>C (p.Gly1703Arg)
c.*4429G>C (n.*4429G>C)
c.230+11729G>C
c.5137G>C (p.Gly1713Arg)
c.5032G>C (p.Gly1678Arg)
c.5023G>C (p.Gly1675Arg)
c.4984G>C (p.Gly1662Arg)
c.4930G>C (p.Gly1644Arg)
c.4834G>C (p.Gly1612Arg)
c.4804G>C (p.Gly1602Arg)
c.4729G>C (p.Gly1577Arg)
c.4627G>C (p.Gly1543Arg)
c.4258G>C (p.Gly1420Arg)
 dbSNP
5g.112840701G=CA1573473876APCc.5161G= (p.Gly1721=)
c.*5113G= (n.*5113G=)
c.5053G= (p.Gly1685=)
c.5107G= (p.Gly1703=)
c.*4429G= (n.*4429G=)
c.230+11729G=
c.5137G= (p.Gly1713=)
c.5032G= (p.Gly1678=)
c.5023G= (p.Gly1675=)
c.4984G= (p.Gly1662=)
c.4930G= (p.Gly1644=)
c.4834G= (p.Gly1612=)
c.4804G= (p.Gly1602=)
c.4729G= (p.Gly1577=)
c.4627G= (p.Gly1543=)
c.4258G= (p.Gly1420=)
5g.112840701G>TCA16032496APCc.5161G>T (p.Gly1721Ter)
c.*5113G>T (n.*5113G>T)
c.5053G>T (p.Gly1685Ter)
c.5107G>T (p.Gly1703Ter)
c.*4429G>T (n.*4429G>T)
c.230+11729G>T
c.5137G>T (p.Gly1713Ter)
c.5032G>T (p.Gly1678Ter)
c.5023G>T (p.Gly1675Ter)
c.4984G>T (p.Gly1662Ter)
c.4930G>T (p.Gly1644Ter)
c.4834G>T (p.Gly1612Ter)
c.4804G>T (p.Gly1602Ter)
c.4729G>T (p.Gly1577Ter)
c.4627G>T (p.Gly1543Ter)
c.4258G>T (p.Gly1420Ter)
 dbSNP
5g.112840702G>ACA16032497APCc.5162G>A (p.Gly1721Glu)
c.*5114G>A (n.*5114G>A)
c.5054G>A (p.Gly1685Glu)
c.5108G>A (p.Gly1703Glu)
c.*4430G>A (n.*4430G>A)
c.230+11730G>A
c.5138G>A (p.Gly1713Glu)
c.5033G>A (p.Gly1678Glu)
c.5024G>A (p.Gly1675Glu)
c.4985G>A (p.Gly1662Glu)
c.4931G>A (p.Gly1644Glu)
c.4835G>A (p.Gly1612Glu)
c.4805G>A (p.Gly1602Glu)
c.4730G>A (p.Gly1577Glu)
c.4628G>A (p.Gly1543Glu)
c.4259G>A (p.Gly1420Glu)
 dbSNP gnomAD v4
5g.112840702G>CCA009873APCc.5162G>C (p.Gly1721Ala)
c.*5114G>C (n.*5114G>C)
c.5054G>C (p.Gly1685Ala)
c.5108G>C (p.Gly1703Ala)
c.*4430G>C (n.*4430G>C)
c.230+11730G>C
c.5138G>C (p.Gly1713Ala)
c.5033G>C (p.Gly1678Ala)
c.5024G>C (p.Gly1675Ala)
c.4985G>C (p.Gly1662Ala)
c.4931G>C (p.Gly1644Ala)
c.4835G>C (p.Gly1612Ala)
c.4805G>C (p.Gly1602Ala)
c.4730G>C (p.Gly1577Ala)
c.4628G>C (p.Gly1543Ala)
c.4259G>C (p.Gly1420Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840702G=CA1573473885APCc.5162G= (p.Gly1721=)
c.*5114G= (n.*5114G=)
c.5054G= (p.Gly1685=)
c.5108G= (p.Gly1703=)
c.*4430G= (n.*4430G=)
c.230+11730G=
c.5138G= (p.Gly1713=)
c.5033G= (p.Gly1678=)
c.5024G= (p.Gly1675=)
c.4985G= (p.Gly1662=)
c.4931G= (p.Gly1644=)
c.4835G= (p.Gly1612=)
c.4805G= (p.Gly1602=)
c.4730G= (p.Gly1577=)
c.4628G= (p.Gly1543=)
c.4259G= (p.Gly1420=)
5g.112840702G>TCA16032498APCc.5162G>T (p.Gly1721Val)
c.*5114G>T (n.*5114G>T)
c.5054G>T (p.Gly1685Val)
c.5108G>T (p.Gly1703Val)
c.*4430G>T (n.*4430G>T)
c.230+11730G>T
c.5138G>T (p.Gly1713Val)
c.5033G>T (p.Gly1678Val)
c.5024G>T (p.Gly1675Val)
c.4985G>T (p.Gly1662Val)
c.4931G>T (p.Gly1644Val)
c.4835G>T (p.Gly1612Val)
c.4805G>T (p.Gly1602Val)
c.4730G>T (p.Gly1577Val)
c.4628G>T (p.Gly1543Val)
c.4259G>T (p.Gly1420Val)
5g.112840702_112840707delCA2767942025APCc.5162_5167del (p.Gly1721_Thr1723delinsAla)
c.*5114_*5119del (n.*5114_*5119del)
c.5054_5059del (p.Gly1685_Thr1687delinsAla)
c.5108_5113del (p.Gly1703_Thr1705delinsAla)
c.*4430_*4435del (n.*4430_*4435del)
c.230+11730_230+11735del
c.5138_5143del (p.Gly1713_Thr1715delinsAla)
c.5033_5038del (p.Gly1678_Thr1680delinsAla)
c.5024_5029del (p.Gly1675_Thr1677delinsAla)
c.4985_4990del (p.Gly1662_Thr1664delinsAla)
c.4931_4936del (p.Gly1644_Thr1646delinsAla)
c.4835_4840del (p.Gly1612_Thr1614delinsAla)
c.4805_4810del (p.Gly1602_Thr1604delinsAla)
c.4730_4735del (p.Gly1577_Thr1579delinsAla)
c.4628_4633del (p.Gly1543_Thr1545delinsAla)
c.4259_4264del (p.Gly1420_Thr1422delinsAla)
5g.112840703A>CCA446209585APCc.5163A>C (p.Gly1721=)
c.*5115A>C (n.*5115A>C)
c.5055A>C (p.Gly1685=)
c.5109A>C (p.Gly1703=)
c.*4431A>C (n.*4431A>C)
c.230+11731A>C
c.5139A>C (p.Gly1713=)
c.5034A>C (p.Gly1678=)
c.5025A>C (p.Gly1675=)
c.4986A>C (p.Gly1662=)
c.4932A>C (p.Gly1644=)
c.4836A>C (p.Gly1612=)
c.4806A>C (p.Gly1602=)
c.4731A>C (p.Gly1577=)
c.4629A>C (p.Gly1543=)
c.4260A>C (p.Gly1420=)
 gnomAD v4
5g.112840703A>GCA446209584APCc.5163A>G (p.Gly1721=)
c.*5115A>G (n.*5115A>G)
c.5055A>G (p.Gly1685=)
c.5109A>G (p.Gly1703=)
c.*4431A>G (n.*4431A>G)
c.230+11731A>G
c.5139A>G (p.Gly1713=)
c.5034A>G (p.Gly1678=)
c.5025A>G (p.Gly1675=)
c.4986A>G (p.Gly1662=)
c.4932A>G (p.Gly1644=)
c.4836A>G (p.Gly1612=)
c.4806A>G (p.Gly1602=)
c.4731A>G (p.Gly1577=)
c.4629A>G (p.Gly1543=)
c.4260A>G (p.Gly1420=)
 dbSNP
5g.112840703A>TCA446209583APCc.5163A>T (p.Gly1721=)
c.*5115A>T (n.*5115A>T)
c.5055A>T (p.Gly1685=)
c.5109A>T (p.Gly1703=)
c.*4431A>T (n.*4431A>T)
c.230+11731A>T
c.5139A>T (p.Gly1713=)
c.5034A>T (p.Gly1678=)
c.5025A>T (p.Gly1675=)
c.4986A>T (p.Gly1662=)
c.4932A>T (p.Gly1644=)
c.4836A>T (p.Gly1612=)
c.4806A>T (p.Gly1602=)
c.4731A>T (p.Gly1577=)
c.4629A>T (p.Gly1543=)
c.4260A>T (p.Gly1420=)
 dbSNP
5g.112840707dupCA446209582APCc.5167dup (p.Thr1723AsnfsTer8)
c.*5119dup (n.*5119dup)
c.5059dup (p.Thr1687AsnfsTer8)
c.5113dup (p.Thr1705AsnfsTer8)
c.*4435dup (n.*4435dup)
c.230+11735dup
c.5143dup (p.Thr1715AsnfsTer8)
c.5038dup (p.Thr1680AsnfsTer8)
c.5029dup (p.Thr1677AsnfsTer8)
c.4990dup (p.Thr1664AsnfsTer8)
c.4936dup (p.Thr1646AsnfsTer8)
c.4840dup (p.Thr1614AsnfsTer8)
c.4810dup (p.Thr1604AsnfsTer8)
c.4735dup (p.Thr1579AsnfsTer8)
c.4633dup (p.Thr1545AsnfsTer8)
c.4264dup (p.Thr1422AsnfsTer8)
 COSMIC
5g.112840704A>CCA16032499APCc.5164A>C (p.Lys1722Gln)
c.*5116A>C (n.*5116A>C)
c.5056A>C (p.Lys1686Gln)
c.5110A>C (p.Lys1704Gln)
c.*4432A>C (n.*4432A>C)
c.230+11732A>C
c.5140A>C (p.Lys1714Gln)
c.5035A>C (p.Lys1679Gln)
c.5026A>C (p.Lys1676Gln)
c.4987A>C (p.Lys1663Gln)
c.4933A>C (p.Lys1645Gln)
c.4837A>C (p.Lys1613Gln)
c.4807A>C (p.Lys1603Gln)
c.4732A>C (p.Lys1578Gln)
c.4630A>C (p.Lys1544Gln)
c.4261A>C (p.Lys1421Gln)
5g.112840704A>GCA16032500APCc.5164A>G (p.Lys1722Glu)
c.*5116A>G (n.*5116A>G)
c.5056A>G (p.Lys1686Glu)
c.5110A>G (p.Lys1704Glu)
c.*4432A>G (n.*4432A>G)
c.230+11732A>G
c.5140A>G (p.Lys1714Glu)
c.5035A>G (p.Lys1679Glu)
c.5026A>G (p.Lys1676Glu)
c.4987A>G (p.Lys1663Glu)
c.4933A>G (p.Lys1645Glu)
c.4837A>G (p.Lys1613Glu)
c.4807A>G (p.Lys1603Glu)
c.4732A>G (p.Lys1578Glu)
c.4630A>G (p.Lys1544Glu)
c.4261A>G (p.Lys1421Glu)
 dbSNP
5g.112840704A>TCA16032501APCc.5164A>T (p.Lys1722Ter)
c.*5116A>T (n.*5116A>T)
c.5056A>T (p.Lys1686Ter)
c.5110A>T (p.Lys1704Ter)
c.*4432A>T (n.*4432A>T)
c.230+11732A>T
c.5140A>T (p.Lys1714Ter)
c.5035A>T (p.Lys1679Ter)
c.5026A>T (p.Lys1676Ter)
c.4987A>T (p.Lys1663Ter)
c.4933A>T (p.Lys1645Ter)
c.4837A>T (p.Lys1613Ter)
c.4807A>T (p.Lys1603Ter)
c.4732A>T (p.Lys1578Ter)
c.4630A>T (p.Lys1544Ter)
c.4261A>T (p.Lys1421Ter)
 ClinVar dbSNP
5g.112840705A=CA1573473892APCc.5165A= (p.Lys1722=)
c.*5117A= (n.*5117A=)
c.5057A= (p.Lys1686=)
c.5111A= (p.Lys1704=)
c.*4433A= (n.*4433A=)
c.230+11733A=
c.5141A= (p.Lys1714=)
c.5036A= (p.Lys1679=)
c.5027A= (p.Lys1676=)
c.4988A= (p.Lys1663=)
c.4934A= (p.Lys1645=)
c.4838A= (p.Lys1613=)
c.4808A= (p.Lys1603=)
c.4733A= (p.Lys1578=)
c.4631A= (p.Lys1544=)
c.4262A= (p.Lys1421=)
5g.112840705A>CCA16032502APCc.5165A>C (p.Lys1722Thr)
c.*5117A>C (n.*5117A>C)
c.5057A>C (p.Lys1686Thr)
c.5111A>C (p.Lys1704Thr)
c.*4433A>C (n.*4433A>C)
c.230+11733A>C
c.5141A>C (p.Lys1714Thr)
c.5036A>C (p.Lys1679Thr)
c.5027A>C (p.Lys1676Thr)
c.4988A>C (p.Lys1663Thr)
c.4934A>C (p.Lys1645Thr)
c.4838A>C (p.Lys1613Thr)
c.4808A>C (p.Lys1603Thr)
c.4733A>C (p.Lys1578Thr)
c.4631A>C (p.Lys1544Thr)
c.4262A>C (p.Lys1421Thr)
 ClinVar
5g.112840705A>GCA16032503APCc.5165A>G (p.Lys1722Arg)
c.*5117A>G (n.*5117A>G)
c.5057A>G (p.Lys1686Arg)
c.5111A>G (p.Lys1704Arg)
c.*4433A>G (n.*4433A>G)
c.230+11733A>G
c.5141A>G (p.Lys1714Arg)
c.5036A>G (p.Lys1679Arg)
c.5027A>G (p.Lys1676Arg)
c.4988A>G (p.Lys1663Arg)
c.4934A>G (p.Lys1645Arg)
c.4838A>G (p.Lys1613Arg)
c.4808A>G (p.Lys1603Arg)
c.4733A>G (p.Lys1578Arg)
c.4631A>G (p.Lys1544Arg)
c.4262A>G (p.Lys1421Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840705A>TCA16032504APCc.5165A>T (p.Lys1722Ile)
c.*5117A>T (n.*5117A>T)
c.5057A>T (p.Lys1686Ile)
c.5111A>T (p.Lys1704Ile)
c.*4433A>T (n.*4433A>T)
c.230+11733A>T
c.5141A>T (p.Lys1714Ile)
c.5036A>T (p.Lys1679Ile)
c.5027A>T (p.Lys1676Ile)
c.4988A>T (p.Lys1663Ile)
c.4934A>T (p.Lys1645Ile)
c.4838A>T (p.Lys1613Ile)
c.4808A>T (p.Lys1603Ile)
c.4733A>T (p.Lys1578Ile)
c.4631A>T (p.Lys1544Ile)
c.4262A>T (p.Lys1421Ile)
 dbSNP
5g.112840706A>CCA16032505APCc.5166A>C (p.Lys1722Asn)
c.*5118A>C (n.*5118A>C)
c.5058A>C (p.Lys1686Asn)
c.5112A>C (p.Lys1704Asn)
c.*4434A>C (n.*4434A>C)
c.230+11734A>C
c.5142A>C (p.Lys1714Asn)
c.5037A>C (p.Lys1679Asn)
c.5028A>C (p.Lys1676Asn)
c.4989A>C (p.Lys1663Asn)
c.4935A>C (p.Lys1645Asn)
c.4839A>C (p.Lys1613Asn)
c.4809A>C (p.Lys1603Asn)
c.4734A>C (p.Lys1578Asn)
c.4632A>C (p.Lys1544Asn)
c.4263A>C (p.Lys1421Asn)
 dbSNP
5g.112840706A>GCA446209586APCc.5166A>G (p.Lys1722=)
c.*5118A>G (n.*5118A>G)
c.5058A>G (p.Lys1686=)
c.5112A>G (p.Lys1704=)
c.*4434A>G (n.*4434A>G)
c.230+11734A>G
c.5142A>G (p.Lys1714=)
c.5037A>G (p.Lys1679=)
c.5028A>G (p.Lys1676=)
c.4989A>G (p.Lys1663=)
c.4935A>G (p.Lys1645=)
c.4839A>G (p.Lys1613=)
c.4809A>G (p.Lys1603=)
c.4734A>G (p.Lys1578=)
c.4632A>G (p.Lys1544=)
c.4263A>G (p.Lys1421=)
5g.112840706A>TCA16032506APCc.5166A>T (p.Lys1722Asn)
c.*5118A>T (n.*5118A>T)
c.5058A>T (p.Lys1686Asn)
c.5112A>T (p.Lys1704Asn)
c.*4434A>T (n.*4434A>T)
c.230+11734A>T
c.5142A>T (p.Lys1714Asn)
c.5037A>T (p.Lys1679Asn)
c.5028A>T (p.Lys1676Asn)
c.4989A>T (p.Lys1663Asn)
c.4935A>T (p.Lys1645Asn)
c.4839A>T (p.Lys1613Asn)
c.4809A>T (p.Lys1603Asn)
c.4734A>T (p.Lys1578Asn)
c.4632A>T (p.Lys1544Asn)
c.4263A>T (p.Lys1421Asn)
 dbSNP
5g.112840707A=CA1573473905APCc.5167A= (p.Thr1723=)
c.*5119A= (n.*5119A=)
c.5059A= (p.Thr1687=)
c.5113A= (p.Thr1705=)
c.*4435A= (n.*4435A=)
c.230+11735A=
c.5143A= (p.Thr1715=)
c.5038A= (p.Thr1680=)
c.5029A= (p.Thr1677=)
c.4990A= (p.Thr1664=)
c.4936A= (p.Thr1646=)
c.4840A= (p.Thr1614=)
c.4810A= (p.Thr1604=)
c.4735A= (p.Thr1579=)
c.4633A= (p.Thr1545=)
c.4264A= (p.Thr1422=)
5g.112840707A>CCA16032507APCc.5167A>C (p.Thr1723Pro)
c.*5119A>C (n.*5119A>C)
c.5059A>C (p.Thr1687Pro)
c.5113A>C (p.Thr1705Pro)
c.*4435A>C (n.*4435A>C)
c.230+11735A>C
c.5143A>C (p.Thr1715Pro)
c.5038A>C (p.Thr1680Pro)
c.5029A>C (p.Thr1677Pro)
c.4990A>C (p.Thr1664Pro)
c.4936A>C (p.Thr1646Pro)
c.4840A>C (p.Thr1614Pro)
c.4810A>C (p.Thr1604Pro)
c.4735A>C (p.Thr1579Pro)
c.4633A>C (p.Thr1545Pro)
c.4264A>C (p.Thr1422Pro)
 dbSNP
5g.112840707A>GCA16032508APCc.5167A>G (p.Thr1723Ala)
c.*5119A>G (n.*5119A>G)
c.5059A>G (p.Thr1687Ala)
c.5113A>G (p.Thr1705Ala)
c.*4435A>G (n.*4435A>G)
c.230+11735A>G
c.5143A>G (p.Thr1715Ala)
c.5038A>G (p.Thr1680Ala)
c.5029A>G (p.Thr1677Ala)
c.4990A>G (p.Thr1664Ala)
c.4936A>G (p.Thr1646Ala)
c.4840A>G (p.Thr1614Ala)
c.4810A>G (p.Thr1604Ala)
c.4735A>G (p.Thr1579Ala)
c.4633A>G (p.Thr1545Ala)
c.4264A>G (p.Thr1422Ala)
 ClinVar dbSNP COSMIC
5g.112840707A>TCA16032509APCc.5167A>T (p.Thr1723Ser)
c.*5119A>T (n.*5119A>T)
c.5059A>T (p.Thr1687Ser)
c.5113A>T (p.Thr1705Ser)
c.*4435A>T (n.*4435A>T)
c.230+11735A>T
c.5143A>T (p.Thr1715Ser)
c.5038A>T (p.Thr1680Ser)
c.5029A>T (p.Thr1677Ser)
c.4990A>T (p.Thr1664Ser)
c.4936A>T (p.Thr1646Ser)
c.4840A>T (p.Thr1614Ser)
c.4810A>T (p.Thr1604Ser)
c.4735A>T (p.Thr1579Ser)
c.4633A>T (p.Thr1545Ser)
c.4264A>T (p.Thr1422Ser)
 dbSNP
5g.112840708C>ACA16032510APCc.5168C>A (p.Thr1723Asn)
c.*5120C>A (n.*5120C>A)
c.5060C>A (p.Thr1687Asn)
c.5114C>A (p.Thr1705Asn)
c.*4436C>A (n.*4436C>A)
c.230+11736C>A
c.5144C>A (p.Thr1715Asn)
c.5039C>A (p.Thr1680Asn)
c.5030C>A (p.Thr1677Asn)
c.4991C>A (p.Thr1664Asn)
c.4937C>A (p.Thr1646Asn)
c.4841C>A (p.Thr1614Asn)
c.4811C>A (p.Thr1604Asn)
c.4736C>A (p.Thr1579Asn)
c.4634C>A (p.Thr1545Asn)
c.4265C>A (p.Thr1422Asn)
 ClinVar dbSNP
5g.112840708C=CA1573473910APCc.5168C= (p.Thr1723=)
c.*5120C= (n.*5120C=)
c.5060C= (p.Thr1687=)
c.5114C= (p.Thr1705=)
c.*4436C= (n.*4436C=)
c.230+11736C=
c.5144C= (p.Thr1715=)
c.5039C= (p.Thr1680=)
c.5030C= (p.Thr1677=)
c.4991C= (p.Thr1664=)
c.4937C= (p.Thr1646=)
c.4841C= (p.Thr1614=)
c.4811C= (p.Thr1604=)
c.4736C= (p.Thr1579=)
c.4634C= (p.Thr1545=)
c.4265C= (p.Thr1422=)
5g.112840708C>GCA10578395APCc.5168C>G (p.Thr1723Ser)
c.*5120C>G (n.*5120C>G)
c.5060C>G (p.Thr1687Ser)
c.5114C>G (p.Thr1705Ser)
c.*4436C>G (n.*4436C>G)
c.230+11736C>G
c.5144C>G (p.Thr1715Ser)
c.5039C>G (p.Thr1680Ser)
c.5030C>G (p.Thr1677Ser)
c.4991C>G (p.Thr1664Ser)
c.4937C>G (p.Thr1646Ser)
c.4841C>G (p.Thr1614Ser)
c.4811C>G (p.Thr1604Ser)
c.4736C>G (p.Thr1579Ser)
c.4634C>G (p.Thr1545Ser)
c.4265C>G (p.Thr1422Ser)
 ClinVar dbSNP gnomAD v4
5g.112840708C>TCA16032511APCc.5168C>T (p.Thr1723Ile)
c.*5120C>T (n.*5120C>T)
c.5060C>T (p.Thr1687Ile)
c.5114C>T (p.Thr1705Ile)
c.*4436C>T (n.*4436C>T)
c.230+11736C>T
c.5144C>T (p.Thr1715Ile)
c.5039C>T (p.Thr1680Ile)
c.5030C>T (p.Thr1677Ile)
c.4991C>T (p.Thr1664Ile)
c.4937C>T (p.Thr1646Ile)
c.4841C>T (p.Thr1614Ile)
c.4811C>T (p.Thr1604Ile)
c.4736C>T (p.Thr1579Ile)
c.4634C>T (p.Thr1545Ile)
c.4265C>T (p.Thr1422Ile)
 ClinVar dbSNP
5g.112840709C>ACA446209587APCc.5169C>A (p.Thr1723=)
c.*5121C>A (n.*5121C>A)
c.5061C>A (p.Thr1687=)
c.5115C>A (p.Thr1705=)
c.*4437C>A (n.*4437C>A)
c.230+11737C>A
c.5145C>A (p.Thr1715=)
c.5040C>A (p.Thr1680=)
c.5031C>A (p.Thr1677=)
c.4992C>A (p.Thr1664=)
c.4938C>A (p.Thr1646=)
c.4842C>A (p.Thr1614=)
c.4812C>A (p.Thr1604=)
c.4737C>A (p.Thr1579=)
c.4635C>A (p.Thr1545=)
c.4266C>A (p.Thr1422=)
 ClinVar dbSNP
5g.112840709C=CA1573473915APCc.5169C= (p.Thr1723=)
c.*5121C= (n.*5121C=)
c.5061C= (p.Thr1687=)
c.5115C= (p.Thr1705=)
c.*4437C= (n.*4437C=)
c.230+11737C=
c.5145C= (p.Thr1715=)
c.5040C= (p.Thr1680=)
c.5031C= (p.Thr1677=)
c.4992C= (p.Thr1664=)
c.4938C= (p.Thr1646=)
c.4842C= (p.Thr1614=)
c.4812C= (p.Thr1604=)
c.4737C= (p.Thr1579=)
c.4635C= (p.Thr1545=)
c.4266C= (p.Thr1422=)
5g.112840709C>GCA348555APCc.5169C>G (p.Thr1723=)
c.*5121C>G (n.*5121C>G)
c.5061C>G (p.Thr1687=)
c.5115C>G (p.Thr1705=)
c.*4437C>G (n.*4437C>G)
c.230+11737C>G
c.5145C>G (p.Thr1715=)
c.5040C>G (p.Thr1680=)
c.5031C>G (p.Thr1677=)
c.4992C>G (p.Thr1664=)
c.4938C>G (p.Thr1646=)
c.4842C>G (p.Thr1614=)
c.4812C>G (p.Thr1604=)
c.4737C>G (p.Thr1579=)
c.4635C>G (p.Thr1545=)
c.4266C>G (p.Thr1422=)
 ClinVar dbSNP
5g.112840709C>TCA125167794APCc.5169C>T (p.Thr1723=)
c.*5121C>T (n.*5121C>T)
c.5061C>T (p.Thr1687=)
c.5115C>T (p.Thr1705=)
c.*4437C>T (n.*4437C>T)
c.230+11737C>T
c.5145C>T (p.Thr1715=)
c.5040C>T (p.Thr1680=)
c.5031C>T (p.Thr1677=)
c.4992C>T (p.Thr1664=)
c.4938C>T (p.Thr1646=)
c.4842C>T (p.Thr1614=)
c.4812C>T (p.Thr1604=)
c.4737C>T (p.Thr1579=)
c.4635C>T (p.Thr1545=)
c.4266C>T (p.Thr1422=)
 ClinVar dbSNP gnomAD v4
5g.112840710T>ACA16032512APCc.5170T>A (p.Ser1724Thr)
c.*5122T>A (n.*5122T>A)
c.5062T>A (p.Ser1688Thr)
c.5116T>A (p.Ser1706Thr)
c.*4438T>A (n.*4438T>A)
c.230+11738T>A
c.5146T>A (p.Ser1716Thr)
c.5041T>A (p.Ser1681Thr)
c.5032T>A (p.Ser1678Thr)
c.4993T>A (p.Ser1665Thr)
c.4939T>A (p.Ser1647Thr)
c.4843T>A (p.Ser1615Thr)
c.4813T>A (p.Ser1605Thr)
c.4738T>A (p.Ser1580Thr)
c.4636T>A (p.Ser1546Thr)
c.4267T>A (p.Ser1423Thr)
 dbSNP
5g.112840710T>CCA16032513APCc.5170T>C (p.Ser1724Pro)
c.*5122T>C (n.*5122T>C)
c.5062T>C (p.Ser1688Pro)
c.5116T>C (p.Ser1706Pro)
c.*4438T>C (n.*4438T>C)
c.230+11738T>C
c.5146T>C (p.Ser1716Pro)
c.5041T>C (p.Ser1681Pro)
c.5032T>C (p.Ser1678Pro)
c.4993T>C (p.Ser1665Pro)
c.4939T>C (p.Ser1647Pro)
c.4843T>C (p.Ser1615Pro)
c.4813T>C (p.Ser1605Pro)
c.4738T>C (p.Ser1580Pro)
c.4636T>C (p.Ser1546Pro)
c.4267T>C (p.Ser1423Pro)
 ClinVar dbSNP
5g.112840710T>GCA16032514APCc.5170T>G (p.Ser1724Ala)
c.*5122T>G (n.*5122T>G)
c.5062T>G (p.Ser1688Ala)
c.5116T>G (p.Ser1706Ala)
c.*4438T>G (n.*4438T>G)
c.230+11738T>G
c.5146T>G (p.Ser1716Ala)
c.5041T>G (p.Ser1681Ala)
c.5032T>G (p.Ser1678Ala)
c.4993T>G (p.Ser1665Ala)
c.4939T>G (p.Ser1647Ala)
c.4843T>G (p.Ser1615Ala)
c.4813T>G (p.Ser1605Ala)
c.4738T>G (p.Ser1580Ala)
c.4636T>G (p.Ser1546Ala)
c.4267T>G (p.Ser1423Ala)
5g.112840710T=CA1573473924APCc.5170T= (p.Ser1724=)
c.*5122T= (n.*5122T=)
c.5062T= (p.Ser1688=)
c.5116T= (p.Ser1706=)
c.*4438T= (n.*4438T=)
c.230+11738T=
c.5146T= (p.Ser1716=)
c.5041T= (p.Ser1681=)
c.5032T= (p.Ser1678=)
c.4993T= (p.Ser1665=)
c.4939T= (p.Ser1647=)
c.4843T= (p.Ser1615=)
c.4813T= (p.Ser1605=)
c.4738T= (p.Ser1580=)
c.4636T= (p.Ser1546=)
c.4267T= (p.Ser1423=)
5g.112840711C>ACA16032515APCc.5171C>A (p.Ser1724Ter)
c.*5123C>A (n.*5123C>A)
c.5063C>A (p.Ser1688Ter)
c.5117C>A (p.Ser1706Ter)
c.*4439C>A (n.*4439C>A)
c.230+11739C>A
c.5147C>A (p.Ser1716Ter)
c.5042C>A (p.Ser1681Ter)
c.5033C>A (p.Ser1678Ter)
c.4994C>A (p.Ser1665Ter)
c.4940C>A (p.Ser1647Ter)
c.4844C>A (p.Ser1615Ter)
c.4814C>A (p.Ser1605Ter)
c.4739C>A (p.Ser1580Ter)
c.4637C>A (p.Ser1546Ter)
c.4268C>A (p.Ser1423Ter)
 dbSNP COSMIC
5g.112840711C>GCA16032516APCc.5171C>G (p.Ser1724Ter)
c.*5123C>G (n.*5123C>G)
c.5063C>G (p.Ser1688Ter)
c.5117C>G (p.Ser1706Ter)
c.*4439C>G (n.*4439C>G)
c.230+11739C>G
c.5147C>G (p.Ser1716Ter)
c.5042C>G (p.Ser1681Ter)
c.5033C>G (p.Ser1678Ter)
c.4994C>G (p.Ser1665Ter)
c.4940C>G (p.Ser1647Ter)
c.4844C>G (p.Ser1615Ter)
c.4814C>G (p.Ser1605Ter)
c.4739C>G (p.Ser1580Ter)
c.4637C>G (p.Ser1546Ter)
c.4268C>G (p.Ser1423Ter)
 dbSNP
5g.112840711C>TCA16032517APCc.5171C>T (p.Ser1724Leu)
c.*5123C>T (n.*5123C>T)
c.5063C>T (p.Ser1688Leu)
c.5117C>T (p.Ser1706Leu)
c.*4439C>T (n.*4439C>T)
c.230+11739C>T
c.5147C>T (p.Ser1716Leu)
c.5042C>T (p.Ser1681Leu)
c.5033C>T (p.Ser1678Leu)
c.4994C>T (p.Ser1665Leu)
c.4940C>T (p.Ser1647Leu)
c.4844C>T (p.Ser1615Leu)
c.4814C>T (p.Ser1605Leu)
c.4739C>T (p.Ser1580Leu)
c.4637C>T (p.Ser1546Leu)
c.4268C>T (p.Ser1423Leu)
 ClinVar dbSNP COSMIC
5g.112840712A=CA1573473929APCc.5172A= (p.Ser1724=)
c.*5124A= (n.*5124A=)
c.5064A= (p.Ser1688=)
c.5118A= (p.Ser1706=)
c.*4440A= (n.*4440A=)
c.230+11740A=
c.5148A= (p.Ser1716=)
c.5043A= (p.Ser1681=)
c.5034A= (p.Ser1678=)
c.4995A= (p.Ser1665=)
c.4941A= (p.Ser1647=)
c.4845A= (p.Ser1615=)
c.4815A= (p.Ser1605=)
c.4740A= (p.Ser1580=)
c.4638A= (p.Ser1546=)
c.4269A= (p.Ser1423=)
5g.112840712A>CCA446209588APCc.5172A>C (p.Ser1724=)
c.*5124A>C (n.*5124A>C)
c.5064A>C (p.Ser1688=)
c.5118A>C (p.Ser1706=)
c.*4440A>C (n.*4440A>C)
c.230+11740A>C
c.5148A>C (p.Ser1716=)
c.5043A>C (p.Ser1681=)
c.5034A>C (p.Ser1678=)
c.4995A>C (p.Ser1665=)
c.4941A>C (p.Ser1647=)
c.4845A>C (p.Ser1615=)
c.4815A>C (p.Ser1605=)
c.4740A>C (p.Ser1580=)
c.4638A>C (p.Ser1546=)
c.4269A>C (p.Ser1423=)
 dbSNP
5g.112840712A>GCA446209589APCc.5172A>G (p.Ser1724=)
c.*5124A>G (n.*5124A>G)
c.5064A>G (p.Ser1688=)
c.5118A>G (p.Ser1706=)
c.*4440A>G (n.*4440A>G)
c.230+11740A>G
c.5148A>G (p.Ser1716=)
c.5043A>G (p.Ser1681=)
c.5034A>G (p.Ser1678=)
c.4995A>G (p.Ser1665=)
c.4941A>G (p.Ser1647=)
c.4845A>G (p.Ser1615=)
c.4815A>G (p.Ser1605=)
c.4740A>G (p.Ser1580=)
c.4638A>G (p.Ser1546=)
c.4269A>G (p.Ser1423=)
 ClinVar dbSNP
5g.112840712A>TCA446209590APCc.5172A>T (p.Ser1724=)
c.*5124A>T (n.*5124A>T)
c.5064A>T (p.Ser1688=)
c.5118A>T (p.Ser1706=)
c.*4440A>T (n.*4440A>T)
c.230+11740A>T
c.5148A>T (p.Ser1716=)
c.5043A>T (p.Ser1681=)
c.5034A>T (p.Ser1678=)
c.4995A>T (p.Ser1665=)
c.4941A>T (p.Ser1647=)
c.4845A>T (p.Ser1615=)
c.4815A>T (p.Ser1605=)
c.4740A>T (p.Ser1580=)
c.4638A>T (p.Ser1546=)
c.4269A>T (p.Ser1423=)
 dbSNP
5g.112840713T>ACA16032518APCc.5173T>A (p.Ser1725Thr)
c.*5125T>A (n.*5125T>A)
c.5065T>A (p.Ser1689Thr)
c.5119T>A (p.Ser1707Thr)
c.*4441T>A (n.*4441T>A)
c.230+11741T>A
c.5149T>A (p.Ser1717Thr)
c.5044T>A (p.Ser1682Thr)
c.5035T>A (p.Ser1679Thr)
c.4996T>A (p.Ser1666Thr)
c.4942T>A (p.Ser1648Thr)
c.4846T>A (p.Ser1616Thr)
c.4816T>A (p.Ser1606Thr)
c.4741T>A (p.Ser1581Thr)
c.4639T>A (p.Ser1547Thr)
c.4270T>A (p.Ser1424Thr)
 dbSNP gnomAD v4
5g.112840713T>CCA16032519APCc.5173T>C (p.Ser1725Pro)
c.*5125T>C (n.*5125T>C)
c.5065T>C (p.Ser1689Pro)
c.5119T>C (p.Ser1707Pro)
c.*4441T>C (n.*4441T>C)
c.230+11741T>C
c.5149T>C (p.Ser1717Pro)
c.5044T>C (p.Ser1682Pro)
c.5035T>C (p.Ser1679Pro)
c.4996T>C (p.Ser1666Pro)
c.4942T>C (p.Ser1648Pro)
c.4846T>C (p.Ser1616Pro)
c.4816T>C (p.Ser1606Pro)
c.4741T>C (p.Ser1581Pro)
c.4639T>C (p.Ser1547Pro)
c.4270T>C (p.Ser1424Pro)
 ClinVar dbSNP gnomAD v4
5g.112840713T>GCA16032520APCc.5173T>G (p.Ser1725Ala)
c.*5125T>G (n.*5125T>G)
c.5065T>G (p.Ser1689Ala)
c.5119T>G (p.Ser1707Ala)
c.*4441T>G (n.*4441T>G)
c.230+11741T>G
c.5149T>G (p.Ser1717Ala)
c.5044T>G (p.Ser1682Ala)
c.5035T>G (p.Ser1679Ala)
c.4996T>G (p.Ser1666Ala)
c.4942T>G (p.Ser1648Ala)
c.4846T>G (p.Ser1616Ala)
c.4816T>G (p.Ser1606Ala)
c.4741T>G (p.Ser1581Ala)
c.4639T>G (p.Ser1547Ala)
c.4270T>G (p.Ser1424Ala)
 dbSNP
5g.112840713T=CA1573473938APCc.5173T= (p.Ser1725=)
c.*5125T= (n.*5125T=)
c.5065T= (p.Ser1689=)
c.5119T= (p.Ser1707=)
c.*4441T= (n.*4441T=)
c.230+11741T=
c.5149T= (p.Ser1717=)
c.5044T= (p.Ser1682=)
c.5035T= (p.Ser1679=)
c.4996T= (p.Ser1666=)
c.4942T= (p.Ser1648=)
c.4846T= (p.Ser1616=)
c.4816T= (p.Ser1606=)
c.4741T= (p.Ser1581=)
c.4639T= (p.Ser1547=)
c.4270T= (p.Ser1424=)
5g.112840714C>ACA16032521APCc.5174C>A (p.Ser1725Tyr)
c.*5126C>A (n.*5126C>A)
c.5066C>A (p.Ser1689Tyr)
c.5120C>A (p.Ser1707Tyr)
c.*4442C>A (n.*4442C>A)
c.230+11742C>A
c.5150C>A (p.Ser1717Tyr)
c.5045C>A (p.Ser1682Tyr)
c.5036C>A (p.Ser1679Tyr)
c.4997C>A (p.Ser1666Tyr)
c.4943C>A (p.Ser1648Tyr)
c.4847C>A (p.Ser1616Tyr)
c.4817C>A (p.Ser1606Tyr)
c.4742C>A (p.Ser1581Tyr)
c.4640C>A (p.Ser1547Tyr)
c.4271C>A (p.Ser1424Tyr)
 dbSNP
5g.112840714C=CA1573473950APCc.5174C= (p.Ser1725=)
c.*5126C= (n.*5126C=)
c.5066C= (p.Ser1689=)
c.5120C= (p.Ser1707=)
c.*4442C= (n.*4442C=)
c.230+11742C=
c.5150C= (p.Ser1717=)
c.5045C= (p.Ser1682=)
c.5036C= (p.Ser1679=)
c.4997C= (p.Ser1666=)
c.4943C= (p.Ser1648=)
c.4847C= (p.Ser1616=)
c.4817C= (p.Ser1606=)
c.4742C= (p.Ser1581=)
c.4640C= (p.Ser1547=)
c.4271C= (p.Ser1424=)
5g.112840714C>GCA16032522APCc.5174C>G (p.Ser1725Cys)
c.*5126C>G (n.*5126C>G)
c.5066C>G (p.Ser1689Cys)
c.5120C>G (p.Ser1707Cys)
c.*4442C>G (n.*4442C>G)
c.230+11742C>G
c.5150C>G (p.Ser1717Cys)
c.5045C>G (p.Ser1682Cys)
c.5036C>G (p.Ser1679Cys)
c.4997C>G (p.Ser1666Cys)
c.4943C>G (p.Ser1648Cys)
c.4847C>G (p.Ser1616Cys)
c.4817C>G (p.Ser1606Cys)
c.4742C>G (p.Ser1581Cys)
c.4640C>G (p.Ser1547Cys)
c.4271C>G (p.Ser1424Cys)
 ClinVar dbSNP
5g.112840714C>TCA16032523APCc.5174C>T (p.Ser1725Phe)
c.*5126C>T (n.*5126C>T)
c.5066C>T (p.Ser1689Phe)
c.5120C>T (p.Ser1707Phe)
c.*4442C>T (n.*4442C>T)
c.230+11742C>T
c.5150C>T (p.Ser1717Phe)
c.5045C>T (p.Ser1682Phe)
c.5036C>T (p.Ser1679Phe)
c.4997C>T (p.Ser1666Phe)
c.4943C>T (p.Ser1648Phe)
c.4847C>T (p.Ser1616Phe)
c.4817C>T (p.Ser1606Phe)
c.4742C>T (p.Ser1581Phe)
c.4640C>T (p.Ser1547Phe)
c.4271C>T (p.Ser1424Phe)
 ClinVar dbSNP
5g.112840715T>ACA446209591APCc.5175T>A (p.Ser1725=)
c.*5127T>A (n.*5127T>A)
c.5067T>A (p.Ser1689=)
c.5121T>A (p.Ser1707=)
c.*4443T>A (n.*4443T>A)
c.230+11743T>A
c.5151T>A (p.Ser1717=)
c.5046T>A (p.Ser1682=)
c.5037T>A (p.Ser1679=)
c.4998T>A (p.Ser1666=)
c.4944T>A (p.Ser1648=)
c.4848T>A (p.Ser1616=)
c.4818T>A (p.Ser1606=)
c.4743T>A (p.Ser1581=)
c.4641T>A (p.Ser1547=)
c.4272T>A (p.Ser1424=)
 dbSNP
5g.112840715T>CCA446209592APCc.5175T>C (p.Ser1725=)
c.*5127T>C (n.*5127T>C)
c.5067T>C (p.Ser1689=)
c.5121T>C (p.Ser1707=)
c.*4443T>C (n.*4443T>C)
c.230+11743T>C
c.5151T>C (p.Ser1717=)
c.5046T>C (p.Ser1682=)
c.5037T>C (p.Ser1679=)
c.4998T>C (p.Ser1666=)
c.4944T>C (p.Ser1648=)
c.4848T>C (p.Ser1616=)
c.4818T>C (p.Ser1606=)
c.4743T>C (p.Ser1581=)
c.4641T>C (p.Ser1547=)
c.4272T>C (p.Ser1424=)
 ClinVar dbSNP
5g.112840715T>GCA446209593APCc.5175T>G (p.Ser1725=)
c.*5127T>G (n.*5127T>G)
c.5067T>G (p.Ser1689=)
c.5121T>G (p.Ser1707=)
c.*4443T>G (n.*4443T>G)
c.230+11743T>G
c.5151T>G (p.Ser1717=)
c.5046T>G (p.Ser1682=)
c.5037T>G (p.Ser1679=)
c.4998T>G (p.Ser1666=)
c.4944T>G (p.Ser1648=)
c.4848T>G (p.Ser1616=)
c.4818T>G (p.Ser1606=)
c.4743T>G (p.Ser1581=)
c.4641T>G (p.Ser1547=)
c.4272T>G (p.Ser1424=)
5g.112840716_112840717delCA2580072615APCc.5176_5177del (p.Val1726AsnfsTer4)
c.*5128_*5129del (n.*5128_*5129del)
c.5068_5069del (p.Val1690AsnfsTer4)
c.5122_5123del (p.Val1708AsnfsTer4)
c.*4444_*4445del (n.*4444_*4445del)
c.230+11744_230+11745del
c.5152_5153del (p.Val1718AsnfsTer4)
c.5047_5048del (p.Val1683AsnfsTer4)
c.5038_5039del (p.Val1680AsnfsTer4)
c.4999_5000del (p.Val1667AsnfsTer4)
c.4945_4946del (p.Val1649AsnfsTer4)
c.4849_4850del (p.Val1617AsnfsTer4)
c.4819_4820del (p.Val1607AsnfsTer4)
c.4744_4745del (p.Val1582AsnfsTer4)
c.4642_4643del (p.Val1548AsnfsTer4)
c.4273_4274del (p.Val1425AsnfsTer4)
 ClinVar
5g.112840716G>ACA16032524APCc.5176G>A (p.Val1726Ile)
c.*5128G>A (n.*5128G>A)
c.5068G>A (p.Val1690Ile)
c.5122G>A (p.Val1708Ile)
c.*4444G>A (n.*4444G>A)
c.230+11744G>A
c.5152G>A (p.Val1718Ile)
c.5047G>A (p.Val1683Ile)
c.5038G>A (p.Val1680Ile)
c.4999G>A (p.Val1667Ile)
c.4945G>A (p.Val1649Ile)
c.4849G>A (p.Val1617Ile)
c.4819G>A (p.Val1607Ile)
c.4744G>A (p.Val1582Ile)
c.4642G>A (p.Val1548Ile)
c.4273G>A (p.Val1425Ile)
 dbSNP
5g.112840716G>CCA16032525APCc.5176G>C (p.Val1726Leu)
c.*5128G>C (n.*5128G>C)
c.5068G>C (p.Val1690Leu)
c.5122G>C (p.Val1708Leu)
c.*4444G>C (n.*4444G>C)
c.230+11744G>C
c.5152G>C (p.Val1718Leu)
c.5047G>C (p.Val1683Leu)
c.5038G>C (p.Val1680Leu)
c.4999G>C (p.Val1667Leu)
c.4945G>C (p.Val1649Leu)
c.4849G>C (p.Val1617Leu)
c.4819G>C (p.Val1607Leu)
c.4744G>C (p.Val1582Leu)
c.4642G>C (p.Val1548Leu)
c.4273G>C (p.Val1425Leu)
 ClinVar dbSNP
5g.112840716G=CA1573473959APCc.5176G= (p.Val1726=)
c.*5128G= (n.*5128G=)
c.5068G= (p.Val1690=)
c.5122G= (p.Val1708=)
c.*4444G= (n.*4444G=)
c.230+11744G=
c.5152G= (p.Val1718=)
c.5047G= (p.Val1683=)
c.5038G= (p.Val1680=)
c.4999G= (p.Val1667=)
c.4945G= (p.Val1649=)
c.4849G= (p.Val1617=)
c.4819G= (p.Val1607=)
c.4744G= (p.Val1582=)
c.4642G= (p.Val1548=)
c.4273G= (p.Val1425=)
5g.112840716G>TCA16032526APCc.5176G>T (p.Val1726Leu)
c.*5128G>T (n.*5128G>T)
c.5068G>T (p.Val1690Leu)
c.5122G>T (p.Val1708Leu)
c.*4444G>T (n.*4444G>T)
c.230+11744G>T
c.5152G>T (p.Val1718Leu)
c.5047G>T (p.Val1683Leu)
c.5038G>T (p.Val1680Leu)
c.4999G>T (p.Val1667Leu)
c.4945G>T (p.Val1649Leu)
c.4849G>T (p.Val1617Leu)
c.4819G>T (p.Val1607Leu)
c.4744G>T (p.Val1582Leu)
c.4642G>T (p.Val1548Leu)
c.4273G>T (p.Val1425Leu)
 dbSNP
5g.112840717T>ACA16032527APCc.5177T>A (p.Val1726Glu)
c.*5129T>A (n.*5129T>A)
c.5069T>A (p.Val1690Glu)
c.5123T>A (p.Val1708Glu)
c.*4445T>A (n.*4445T>A)
c.230+11745T>A
c.5153T>A (p.Val1718Glu)
c.5048T>A (p.Val1683Glu)
c.5039T>A (p.Val1680Glu)
c.5000T>A (p.Val1667Glu)
c.4946T>A (p.Val1649Glu)
c.4850T>A (p.Val1617Glu)
c.4820T>A (p.Val1607Glu)
c.4745T>A (p.Val1582Glu)
c.4643T>A (p.Val1548Glu)
c.4274T>A (p.Val1425Glu)
 ClinVar dbSNP
5g.112840717T>CCA16032528APCc.5177T>C (p.Val1726Ala)
c.*5129T>C (n.*5129T>C)
c.5069T>C (p.Val1690Ala)
c.5123T>C (p.Val1708Ala)
c.*4445T>C (n.*4445T>C)
c.230+11745T>C
c.5153T>C (p.Val1718Ala)
c.5048T>C (p.Val1683Ala)
c.5039T>C (p.Val1680Ala)
c.5000T>C (p.Val1667Ala)
c.4946T>C (p.Val1649Ala)
c.4850T>C (p.Val1617Ala)
c.4820T>C (p.Val1607Ala)
c.4745T>C (p.Val1582Ala)
c.4643T>C (p.Val1548Ala)
c.4274T>C (p.Val1425Ala)
 ClinVar
5g.112840717T>GCA16032529APCc.5177T>G (p.Val1726Gly)
c.*5129T>G (n.*5129T>G)
c.5069T>G (p.Val1690Gly)
c.5123T>G (p.Val1708Gly)
c.*4445T>G (n.*4445T>G)
c.230+11745T>G
c.5153T>G (p.Val1718Gly)
c.5048T>G (p.Val1683Gly)
c.5039T>G (p.Val1680Gly)
c.5000T>G (p.Val1667Gly)
c.4946T>G (p.Val1649Gly)
c.4850T>G (p.Val1617Gly)
c.4820T>G (p.Val1607Gly)
c.4745T>G (p.Val1582Gly)
c.4643T>G (p.Val1548Gly)
c.4274T>G (p.Val1425Gly)
5g.112840717T=CA1573473963APCc.5177T= (p.Val1726=)
c.*5129T= (n.*5129T=)
c.5069T= (p.Val1690=)
c.5123T= (p.Val1708=)
c.*4445T= (n.*4445T=)
c.230+11745T=
c.5153T= (p.Val1718=)
c.5048T= (p.Val1683=)
c.5039T= (p.Val1680=)
c.5000T= (p.Val1667=)
c.4946T= (p.Val1649=)
c.4850T= (p.Val1617=)
c.4820T= (p.Val1607=)
c.4745T= (p.Val1582=)
c.4643T= (p.Val1548=)
c.4274T= (p.Val1425=)
5g.112840718A=CA1573473965APCc.5178A= (p.Val1726=)
c.*5130A= (n.*5130A=)
c.5070A= (p.Val1690=)
c.5124A= (p.Val1708=)
c.*4446A= (n.*4446A=)
c.230+11746A=
c.5154A= (p.Val1718=)
c.5049A= (p.Val1683=)
c.5040A= (p.Val1680=)
c.5001A= (p.Val1667=)
c.4947A= (p.Val1649=)
c.4851A= (p.Val1617=)
c.4821A= (p.Val1607=)
c.4746A= (p.Val1582=)
c.4644A= (p.Val1548=)
c.4275A= (p.Val1425=)
5g.112840718A>CCA446209594APCc.5178A>C (p.Val1726=)
c.*5130A>C (n.*5130A>C)
c.5070A>C (p.Val1690=)
c.5124A>C (p.Val1708=)
c.*4446A>C (n.*4446A>C)
c.230+11746A>C
c.5154A>C (p.Val1718=)
c.5049A>C (p.Val1683=)
c.5040A>C (p.Val1680=)
c.5001A>C (p.Val1667=)
c.4947A>C (p.Val1649=)
c.4851A>C (p.Val1617=)
c.4821A>C (p.Val1607=)
c.4746A>C (p.Val1582=)
c.4644A>C (p.Val1548=)
c.4275A>C (p.Val1425=)
5g.112840718A>GCA446209596APCc.5178A>G (p.Val1726=)
c.*5130A>G (n.*5130A>G)
c.5070A>G (p.Val1690=)
c.5124A>G (p.Val1708=)
c.*4446A>G (n.*4446A>G)
c.230+11746A>G
c.5154A>G (p.Val1718=)
c.5049A>G (p.Val1683=)
c.5040A>G (p.Val1680=)
c.5001A>G (p.Val1667=)
c.4947A>G (p.Val1649=)
c.4851A>G (p.Val1617=)
c.4821A>G (p.Val1607=)
c.4746A>G (p.Val1582=)
c.4644A>G (p.Val1548=)
c.4275A>G (p.Val1425=)
5g.112840718A>TCA446209595APCc.5178A>T (p.Val1726=)
c.*5130A>T (n.*5130A>T)
c.5070A>T (p.Val1690=)
c.5124A>T (p.Val1708=)
c.*4446A>T (n.*4446A>T)
c.230+11746A>T
c.5154A>T (p.Val1718=)
c.5049A>T (p.Val1683=)
c.5040A>T (p.Val1680=)
c.5001A>T (p.Val1667=)
c.4947A>T (p.Val1649=)
c.4851A>T (p.Val1617=)
c.4821A>T (p.Val1607=)
c.4746A>T (p.Val1582=)
c.4644A>T (p.Val1548=)
c.4275A>T (p.Val1425=)
 dbSNP
5g.112840718_112840719insGTTACCA917556716APCc.5178_5179insGTTAC (p.Thr1727ValfsTer?)
c.*5130_*5131insGTTAC (n.*5130_*5131insGTTAC)
c.5070_5071insGTTAC (p.Thr1691ValfsTer?)
c.5124_5125insGTTAC (p.Thr1709ValfsTer?)
c.*4446_*4447insGTTAC (n.*4446_*4447insGTTAC)
c.230+11746_230+11747insGTTAC
c.5154_5155insGTTAC (p.Thr1719ValfsTer?)
c.5049_5050insGTTAC (p.Thr1684ValfsTer?)
c.5040_5041insGTTAC (p.Thr1681ValfsTer?)
c.5001_5002insGTTAC (p.Thr1668ValfsTer?)
c.4947_4948insGTTAC (p.Thr1650ValfsTer?)
c.4851_4852insGTTAC (p.Thr1618ValfsTer?)
c.4821_4822insGTTAC (p.Thr1608ValfsTer?)
c.4746_4747insGTTAC (p.Thr1583ValfsTer?)
c.4644_4645insGTTAC (p.Thr1549ValfsTer?)
c.4275_4276insGTTAC (p.Thr1426ValfsTer?)
 dbSNP
5g.112840719A=CA1573473973APCc.5179A= (p.Thr1727=)
c.*5131A= (n.*5131A=)
c.5071A= (p.Thr1691=)
c.5125A= (p.Thr1709=)
c.*4447A= (n.*4447A=)
c.230+11747A=
c.5155A= (p.Thr1719=)
c.5050A= (p.Thr1684=)
c.5041A= (p.Thr1681=)
c.5002A= (p.Thr1668=)
c.4948A= (p.Thr1650=)
c.4852A= (p.Thr1618=)
c.4822A= (p.Thr1608=)
c.4747A= (p.Thr1583=)
c.4645A= (p.Thr1549=)
c.4276A= (p.Thr1426=)
5g.112840719A>CCA16032530APCc.5179A>C (p.Thr1727Pro)
c.*5131A>C (n.*5131A>C)
c.5071A>C (p.Thr1691Pro)
c.5125A>C (p.Thr1709Pro)
c.*4447A>C (n.*4447A>C)
c.230+11747A>C
c.5155A>C (p.Thr1719Pro)
c.5050A>C (p.Thr1684Pro)
c.5041A>C (p.Thr1681Pro)
c.5002A>C (p.Thr1668Pro)
c.4948A>C (p.Thr1650Pro)
c.4852A>C (p.Thr1618Pro)
c.4822A>C (p.Thr1608Pro)
c.4747A>C (p.Thr1583Pro)
c.4645A>C (p.Thr1549Pro)
c.4276A>C (p.Thr1426Pro)
5g.112840719A>GCA16032531APCc.5179A>G (p.Thr1727Ala)
c.*5131A>G (n.*5131A>G)
c.5071A>G (p.Thr1691Ala)
c.5125A>G (p.Thr1709Ala)
c.*4447A>G (n.*4447A>G)
c.230+11747A>G
c.5155A>G (p.Thr1719Ala)
c.5050A>G (p.Thr1684Ala)
c.5041A>G (p.Thr1681Ala)
c.5002A>G (p.Thr1668Ala)
c.4948A>G (p.Thr1650Ala)
c.4852A>G (p.Thr1618Ala)
c.4822A>G (p.Thr1608Ala)
c.4747A>G (p.Thr1583Ala)
c.4645A>G (p.Thr1549Ala)
c.4276A>G (p.Thr1426Ala)
 ClinVar dbSNP
5g.112840719A>TCA16032532APCc.5179A>T (p.Thr1727Ser)
c.*5131A>T (n.*5131A>T)
c.5071A>T (p.Thr1691Ser)
c.5125A>T (p.Thr1709Ser)
c.*4447A>T (n.*4447A>T)
c.230+11747A>T
c.5155A>T (p.Thr1719Ser)
c.5050A>T (p.Thr1684Ser)
c.5041A>T (p.Thr1681Ser)
c.5002A>T (p.Thr1668Ser)
c.4948A>T (p.Thr1650Ser)
c.4852A>T (p.Thr1618Ser)
c.4822A>T (p.Thr1608Ser)
c.4747A>T (p.Thr1583Ser)
c.4645A>T (p.Thr1549Ser)
c.4276A>T (p.Thr1426Ser)
 ClinVar dbSNP gnomAD v4
5g.112840720C>ACA16032533APCc.5180C>A (p.Thr1727Asn)
c.*5132C>A (n.*5132C>A)
c.5072C>A (p.Thr1691Asn)
c.5126C>A (p.Thr1709Asn)
c.*4448C>A (n.*4448C>A)
c.230+11748C>A
c.5156C>A (p.Thr1719Asn)
c.5051C>A (p.Thr1684Asn)
c.5042C>A (p.Thr1681Asn)
c.5003C>A (p.Thr1668Asn)
c.4949C>A (p.Thr1650Asn)
c.4853C>A (p.Thr1618Asn)
c.4823C>A (p.Thr1608Asn)
c.4748C>A (p.Thr1583Asn)
c.4646C>A (p.Thr1549Asn)
c.4277C>A (p.Thr1426Asn)
 ClinVar dbSNP
5g.112840720C=CA1573473986APCc.5180C= (p.Thr1727=)
c.*5132C= (n.*5132C=)
c.5072C= (p.Thr1691=)
c.5126C= (p.Thr1709=)
c.*4448C= (n.*4448C=)
c.230+11748C=
c.5156C= (p.Thr1719=)
c.5051C= (p.Thr1684=)
c.5042C= (p.Thr1681=)
c.5003C= (p.Thr1668=)
c.4949C= (p.Thr1650=)
c.4853C= (p.Thr1618=)
c.4823C= (p.Thr1608=)
c.4748C= (p.Thr1583=)
c.4646C= (p.Thr1549=)
c.4277C= (p.Thr1426=)
5g.112840720C>GCA16032534APCc.5180C>G (p.Thr1727Ser)
c.*5132C>G (n.*5132C>G)
c.5072C>G (p.Thr1691Ser)
c.5126C>G (p.Thr1709Ser)
c.*4448C>G (n.*4448C>G)
c.230+11748C>G
c.5156C>G (p.Thr1719Ser)
c.5051C>G (p.Thr1684Ser)
c.5042C>G (p.Thr1681Ser)
c.5003C>G (p.Thr1668Ser)
c.4949C>G (p.Thr1650Ser)
c.4853C>G (p.Thr1618Ser)
c.4823C>G (p.Thr1608Ser)
c.4748C>G (p.Thr1583Ser)
c.4646C>G (p.Thr1549Ser)
c.4277C>G (p.Thr1426Ser)
5g.112840720C>TCA16032535APCc.5180C>T (p.Thr1727Ile)
c.*5132C>T (n.*5132C>T)
c.5072C>T (p.Thr1691Ile)
c.5126C>T (p.Thr1709Ile)
c.*4448C>T (n.*4448C>T)
c.230+11748C>T
c.5156C>T (p.Thr1719Ile)
c.5051C>T (p.Thr1684Ile)
c.5042C>T (p.Thr1681Ile)
c.5003C>T (p.Thr1668Ile)
c.4949C>T (p.Thr1650Ile)
c.4853C>T (p.Thr1618Ile)
c.4823C>T (p.Thr1608Ile)
c.4748C>T (p.Thr1583Ile)
c.4646C>T (p.Thr1549Ile)
c.4277C>T (p.Thr1426Ile)
 ClinVar dbSNP
5g.112840721C>ACA446209597APCc.5181C>A (p.Thr1727=)
c.*5133C>A (n.*5133C>A)
c.5073C>A (p.Thr1691=)
c.5127C>A (p.Thr1709=)
c.*4449C>A (n.*4449C>A)
c.230+11749C>A
c.5157C>A (p.Thr1719=)
c.5052C>A (p.Thr1684=)
c.5043C>A (p.Thr1681=)
c.5004C>A (p.Thr1668=)
c.4950C>A (p.Thr1650=)
c.4854C>A (p.Thr1618=)
c.4824C>A (p.Thr1608=)
c.4749C>A (p.Thr1583=)
c.4647C>A (p.Thr1549=)
c.4278C>A (p.Thr1426=)
 ClinVar
5g.112840721C>GCA446209598APCc.5181C>G (p.Thr1727=)
c.*5133C>G (n.*5133C>G)
c.5073C>G (p.Thr1691=)
c.5127C>G (p.Thr1709=)
c.*4449C>G (n.*4449C>G)
c.230+11749C>G
c.5157C>G (p.Thr1719=)
c.5052C>G (p.Thr1684=)
c.5043C>G (p.Thr1681=)
c.5004C>G (p.Thr1668=)
c.4950C>G (p.Thr1650=)
c.4854C>G (p.Thr1618=)
c.4824C>G (p.Thr1608=)
c.4749C>G (p.Thr1583=)
c.4647C>G (p.Thr1549=)
c.4278C>G (p.Thr1426=)
 ClinVar dbSNP
5g.112840721C>TCA446209599APCc.5181C>T (p.Thr1727=)
c.*5133C>T (n.*5133C>T)
c.5073C>T (p.Thr1691=)
c.5127C>T (p.Thr1709=)
c.*4449C>T (n.*4449C>T)
c.230+11749C>T
c.5157C>T (p.Thr1719=)
c.5052C>T (p.Thr1684=)
c.5043C>T (p.Thr1681=)
c.5004C>T (p.Thr1668=)
c.4950C>T (p.Thr1650=)
c.4854C>T (p.Thr1618=)
c.4824C>T (p.Thr1608=)
c.4749C>T (p.Thr1583=)
c.4647C>T (p.Thr1549=)
c.4278C>T (p.Thr1426=)
 gnomAD v4
5g.112840722A=CA1573473999APCc.5182A= (p.Ile1728=)
c.*5134A= (n.*5134A=)
c.5074A= (p.Ile1692=)
c.5128A= (p.Ile1710=)
c.*4450A= (n.*4450A=)
c.230+11750A=
c.5158A= (p.Ile1720=)
c.5053A= (p.Ile1685=)
c.5044A= (p.Ile1682=)
c.5005A= (p.Ile1669=)
c.4951A= (p.Ile1651=)
c.4855A= (p.Ile1619=)
c.4825A= (p.Ile1609=)
c.4750A= (p.Ile1584=)
c.4648A= (p.Ile1550=)
c.4279A= (p.Ile1427=)
5g.112840722A>CCA16032536APCc.5182A>C (p.Ile1728Leu)
c.*5134A>C (n.*5134A>C)
c.5074A>C (p.Ile1692Leu)
c.5128A>C (p.Ile1710Leu)
c.*4450A>C (n.*4450A>C)
c.230+11750A>C
c.5158A>C (p.Ile1720Leu)
c.5053A>C (p.Ile1685Leu)
c.5044A>C (p.Ile1682Leu)
c.5005A>C (p.Ile1669Leu)
c.4951A>C (p.Ile1651Leu)
c.4855A>C (p.Ile1619Leu)
c.4825A>C (p.Ile1609Leu)
c.4750A>C (p.Ile1584Leu)
c.4648A>C (p.Ile1550Leu)
c.4279A>C (p.Ile1427Leu)
5g.112840722A>GCA16032537APCc.5182A>G (p.Ile1728Val)
c.*5134A>G (n.*5134A>G)
c.5074A>G (p.Ile1692Val)
c.5128A>G (p.Ile1710Val)
c.*4450A>G (n.*4450A>G)
c.230+11750A>G
c.5158A>G (p.Ile1720Val)
c.5053A>G (p.Ile1685Val)
c.5044A>G (p.Ile1682Val)
c.5005A>G (p.Ile1669Val)
c.4951A>G (p.Ile1651Val)
c.4855A>G (p.Ile1619Val)
c.4825A>G (p.Ile1609Val)
c.4750A>G (p.Ile1584Val)
c.4648A>G (p.Ile1550Val)
c.4279A>G (p.Ile1427Val)
 ClinVar dbSNP gnomAD v4
5g.112840722A>TCA16032538APCc.5182A>T (p.Ile1728Leu)
c.*5134A>T (n.*5134A>T)
c.5074A>T (p.Ile1692Leu)
c.5128A>T (p.Ile1710Leu)
c.*4450A>T (n.*4450A>T)
c.230+11750A>T
c.5158A>T (p.Ile1720Leu)
c.5053A>T (p.Ile1685Leu)
c.5044A>T (p.Ile1682Leu)
c.5005A>T (p.Ile1669Leu)
c.4951A>T (p.Ile1651Leu)
c.4855A>T (p.Ile1619Leu)
c.4825A>T (p.Ile1609Leu)
c.4750A>T (p.Ile1584Leu)
c.4648A>T (p.Ile1550Leu)
c.4279A>T (p.Ile1427Leu)
 dbSNP
5g.112840723T>ACA16032539APCc.5183T>A (p.Ile1728Lys)
c.*5135T>A (n.*5135T>A)
c.5075T>A (p.Ile1692Lys)
c.5129T>A (p.Ile1710Lys)
c.*4451T>A (n.*4451T>A)
c.230+11751T>A
c.5159T>A (p.Ile1720Lys)
c.5054T>A (p.Ile1685Lys)
c.5045T>A (p.Ile1682Lys)
c.5006T>A (p.Ile1669Lys)
c.4952T>A (p.Ile1651Lys)
c.4856T>A (p.Ile1619Lys)
c.4826T>A (p.Ile1609Lys)
c.4751T>A (p.Ile1584Lys)
c.4649T>A (p.Ile1550Lys)
c.4280T>A (p.Ile1427Lys)
 ClinVar gnomAD v4
5g.112840723T>CCA16032540APCc.5183T>C (p.Ile1728Thr)
c.*5135T>C (n.*5135T>C)
c.5075T>C (p.Ile1692Thr)
c.5129T>C (p.Ile1710Thr)
c.*4451T>C (n.*4451T>C)
c.230+11751T>C
c.5159T>C (p.Ile1720Thr)
c.5054T>C (p.Ile1685Thr)
c.5045T>C (p.Ile1682Thr)
c.5006T>C (p.Ile1669Thr)
c.4952T>C (p.Ile1651Thr)
c.4856T>C (p.Ile1619Thr)
c.4826T>C (p.Ile1609Thr)
c.4751T>C (p.Ile1584Thr)
c.4649T>C (p.Ile1550Thr)
c.4280T>C (p.Ile1427Thr)
5g.112840723T>GCA16032541APCc.5183T>G (p.Ile1728Arg)
c.*5135T>G (n.*5135T>G)
c.5075T>G (p.Ile1692Arg)
c.5129T>G (p.Ile1710Arg)
c.*4451T>G (n.*4451T>G)
c.230+11751T>G
c.5159T>G (p.Ile1720Arg)
c.5054T>G (p.Ile1685Arg)
c.5045T>G (p.Ile1682Arg)
c.5006T>G (p.Ile1669Arg)
c.4952T>G (p.Ile1651Arg)
c.4856T>G (p.Ile1619Arg)
c.4826T>G (p.Ile1609Arg)
c.4751T>G (p.Ile1584Arg)
c.4649T>G (p.Ile1550Arg)
c.4280T>G (p.Ile1427Arg)
 dbSNP
5g.112840723T=CA1573474005APCc.5183T= (p.Ile1728=)
c.*5135T= (n.*5135T=)
c.5075T= (p.Ile1692=)
c.5129T= (p.Ile1710=)
c.*4451T= (n.*4451T=)
c.230+11751T=
c.5159T= (p.Ile1720=)
c.5054T= (p.Ile1685=)
c.5045T= (p.Ile1682=)
c.5006T= (p.Ile1669=)
c.4952T= (p.Ile1651=)
c.4856T= (p.Ile1619=)
c.4826T= (p.Ile1609=)
c.4751T= (p.Ile1584=)
c.4649T= (p.Ile1550=)
c.4280T= (p.Ile1427=)
5g.112840724A>CCA446209600APCc.5184A>C (p.Ile1728=)
c.*5136A>C (n.*5136A>C)
c.5076A>C (p.Ile1692=)
c.5130A>C (p.Ile1710=)
c.*4452A>C (n.*4452A>C)
c.230+11752A>C
c.5160A>C (p.Ile1720=)
c.5055A>C (p.Ile1685=)
c.5046A>C (p.Ile1682=)
c.5007A>C (p.Ile1669=)
c.4953A>C (p.Ile1651=)
c.4857A>C (p.Ile1619=)
c.4827A>C (p.Ile1609=)
c.4752A>C (p.Ile1584=)
c.4650A>C (p.Ile1550=)
c.4281A>C (p.Ile1427=)
 dbSNP
5g.112840724A>GCA16032542APCc.5184A>G (p.Ile1728Met)
c.*5136A>G (n.*5136A>G)
c.5076A>G (p.Ile1692Met)
c.5130A>G (p.Ile1710Met)
c.*4452A>G (n.*4452A>G)
c.230+11752A>G
c.5160A>G (p.Ile1720Met)
c.5055A>G (p.Ile1685Met)
c.5046A>G (p.Ile1682Met)
c.5007A>G (p.Ile1669Met)
c.4953A>G (p.Ile1651Met)
c.4857A>G (p.Ile1619Met)
c.4827A>G (p.Ile1609Met)
c.4752A>G (p.Ile1584Met)
c.4650A>G (p.Ile1550Met)
c.4281A>G (p.Ile1427Met)
 dbSNP
5g.112840724A>TCA446209601APCc.5184A>T (p.Ile1728=)
c.*5136A>T (n.*5136A>T)
c.5076A>T (p.Ile1692=)
c.5130A>T (p.Ile1710=)
c.*4452A>T (n.*4452A>T)
c.230+11752A>T
c.5160A>T (p.Ile1720=)
c.5055A>T (p.Ile1685=)
c.5046A>T (p.Ile1682=)
c.5007A>T (p.Ile1669=)
c.4953A>T (p.Ile1651=)
c.4857A>T (p.Ile1619=)
c.4827A>T (p.Ile1609=)
c.4752A>T (p.Ile1584=)
c.4650A>T (p.Ile1550=)
c.4281A>T (p.Ile1427=)
 dbSNP
5g.112840725C>ACA16032543APCc.5185C>A (p.Pro1729Thr)
c.*5137C>A (n.*5137C>A)
c.5077C>A (p.Pro1693Thr)
c.5131C>A (p.Pro1711Thr)
c.*4453C>A (n.*4453C>A)
c.230+11753C>A
c.5161C>A (p.Pro1721Thr)
c.5056C>A (p.Pro1686Thr)
c.5047C>A (p.Pro1683Thr)
c.5008C>A (p.Pro1670Thr)
c.4954C>A (p.Pro1652Thr)
c.4858C>A (p.Pro1620Thr)
c.4828C>A (p.Pro1610Thr)
c.4753C>A (p.Pro1585Thr)
c.4651C>A (p.Pro1551Thr)
c.4282C>A (p.Pro1428Thr)
 ClinVar dbSNP
5g.112840725C=CA1573474009APCc.5185C= (p.Pro1729=)
c.*5137C= (n.*5137C=)
c.5077C= (p.Pro1693=)
c.5131C= (p.Pro1711=)
c.*4453C= (n.*4453C=)
c.230+11753C=
c.5161C= (p.Pro1721=)
c.5056C= (p.Pro1686=)
c.5047C= (p.Pro1683=)
c.5008C= (p.Pro1670=)
c.4954C= (p.Pro1652=)
c.4858C= (p.Pro1620=)
c.4828C= (p.Pro1610=)
c.4753C= (p.Pro1585=)
c.4651C= (p.Pro1551=)
c.4282C= (p.Pro1428=)
5g.112840725C>GCA16032544APCc.5185C>G (p.Pro1729Ala)
c.*5137C>G (n.*5137C>G)
c.5077C>G (p.Pro1693Ala)
c.5131C>G (p.Pro1711Ala)
c.*4453C>G (n.*4453C>G)
c.230+11753C>G
c.5161C>G (p.Pro1721Ala)
c.5056C>G (p.Pro1686Ala)
c.5047C>G (p.Pro1683Ala)
c.5008C>G (p.Pro1670Ala)
c.4954C>G (p.Pro1652Ala)
c.4858C>G (p.Pro1620Ala)
c.4828C>G (p.Pro1610Ala)
c.4753C>G (p.Pro1585Ala)
c.4651C>G (p.Pro1551Ala)
c.4282C>G (p.Pro1428Ala)
 ClinVar dbSNP gnomAD v4
5g.112840725C>TCA040688APCc.5185C>T (p.Pro1729Ser)
c.*5137C>T (n.*5137C>T)
c.5077C>T (p.Pro1693Ser)
c.5131C>T (p.Pro1711Ser)
c.*4453C>T (n.*4453C>T)
c.230+11753C>T
c.5161C>T (p.Pro1721Ser)
c.5056C>T (p.Pro1686Ser)
c.5047C>T (p.Pro1683Ser)
c.5008C>T (p.Pro1670Ser)
c.4954C>T (p.Pro1652Ser)
c.4858C>T (p.Pro1620Ser)
c.4828C>T (p.Pro1610Ser)
c.4753C>T (p.Pro1585Ser)
c.4651C>T (p.Pro1551Ser)
c.4282C>T (p.Pro1428Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840726delCA2580072617APCc.5186del (p.Pro1729LeufsTer?)
c.*5138del (n.*5138del)
c.5078del (p.Pro1693LeufsTer?)
c.5132del (p.Pro1711LeufsTer?)
c.*4454del (n.*4454del)
c.230+11754del
c.5162del (p.Pro1721LeufsTer?)
c.5057del (p.Pro1686LeufsTer?)
c.5048del (p.Pro1683LeufsTer?)
c.5009del (p.Pro1670LeufsTer?)
c.4955del (p.Pro1652LeufsTer?)
c.4859del (p.Pro1620LeufsTer?)
c.4829del (p.Pro1610LeufsTer?)
c.4754del (p.Pro1585LeufsTer?)
c.4652del (p.Pro1551LeufsTer?)
c.4283del (p.Pro1428LeufsTer?)
 ClinVar
5g.112840726C>ACA16032545APCc.5186C>A (p.Pro1729His)
c.*5138C>A (n.*5138C>A)
c.5078C>A (p.Pro1693His)
c.5132C>A (p.Pro1711His)
c.*4454C>A (n.*4454C>A)
c.230+11754C>A
c.5162C>A (p.Pro1721His)
c.5057C>A (p.Pro1686His)
c.5048C>A (p.Pro1683His)
c.5009C>A (p.Pro1670His)
c.4955C>A (p.Pro1652His)
c.4859C>A (p.Pro1620His)
c.4829C>A (p.Pro1610His)
c.4754C>A (p.Pro1585His)
c.4652C>A (p.Pro1551His)
c.4283C>A (p.Pro1428His)
 ClinVar dbSNP
5g.112840726C>GCA16032546APCc.5186C>G (p.Pro1729Arg)
c.*5138C>G (n.*5138C>G)
c.5078C>G (p.Pro1693Arg)
c.5132C>G (p.Pro1711Arg)
c.*4454C>G (n.*4454C>G)
c.230+11754C>G
c.5162C>G (p.Pro1721Arg)
c.5057C>G (p.Pro1686Arg)
c.5048C>G (p.Pro1683Arg)
c.5009C>G (p.Pro1670Arg)
c.4955C>G (p.Pro1652Arg)
c.4859C>G (p.Pro1620Arg)
c.4829C>G (p.Pro1610Arg)
c.4754C>G (p.Pro1585Arg)
c.4652C>G (p.Pro1551Arg)
c.4283C>G (p.Pro1428Arg)
 dbSNP
5g.112840726C>TCA16032547APCc.5186C>T (p.Pro1729Leu)
c.*5138C>T (n.*5138C>T)
c.5078C>T (p.Pro1693Leu)
c.5132C>T (p.Pro1711Leu)
c.*4454C>T (n.*4454C>T)
c.230+11754C>T
c.5162C>T (p.Pro1721Leu)
c.5057C>T (p.Pro1686Leu)
c.5048C>T (p.Pro1683Leu)
c.5009C>T (p.Pro1670Leu)
c.4955C>T (p.Pro1652Leu)
c.4859C>T (p.Pro1620Leu)
c.4829C>T (p.Pro1610Leu)
c.4754C>T (p.Pro1585Leu)
c.4652C>T (p.Pro1551Leu)
c.4283C>T (p.Pro1428Leu)
 dbSNP
5g.112840726_112840731delinsCTGAATCA1573474015APCc.5186_5191delinsCTGAAT (p.Pro1729=)
c.*5138_*5143delinsCTGAAT (n.*5138_*5143delinsCTGAAT)
c.5078_5083delinsCTGAAT (p.Pro1693=)
c.5132_5137delinsCTGAAT (p.Pro1711=)
c.*4454_*4459delinsCTGAAT (n.*4454_*4459delinsCTGAAT)
c.230+11754_230+11759delinsCTGAAT
c.5162_5167delinsCTGAAT (p.Pro1721=)
c.5057_5062delinsCTGAAT (p.Pro1686=)
c.5048_5053delinsCTGAAT (p.Pro1683=)
c.5009_5014delinsCTGAAT (p.Pro1670=)
c.4955_4960delinsCTGAAT (p.Pro1652=)
c.4859_4864delinsCTGAAT (p.Pro1620=)
c.4829_4834delinsCTGAAT (p.Pro1610=)
c.4754_4759delinsCTGAAT (p.Pro1585=)
c.4652_4657delinsCTGAAT (p.Pro1551=)
c.4283_4288delinsCTGAAT (p.Pro1428=)
5g.112840727delCA2580072618APCc.5187del (p.Glu1730AsnfsTer?)
c.*5139del (n.*5139del)
c.5079del (p.Glu1694AsnfsTer?)
c.5133del (p.Glu1712AsnfsTer?)
c.*4455del (n.*4455del)
c.230+11755del
c.5163del (p.Glu1722AsnfsTer?)
c.5058del (p.Glu1687AsnfsTer?)
c.5049del (p.Glu1684AsnfsTer?)
c.5010del (p.Glu1671AsnfsTer?)
c.4956del (p.Glu1653AsnfsTer?)
c.4860del (p.Glu1621AsnfsTer?)
c.4830del (p.Glu1611AsnfsTer?)
c.4755del (p.Glu1586AsnfsTer?)
c.4653del (p.Glu1552AsnfsTer?)
c.4284del (p.Glu1429AsnfsTer?)
 ClinVar
5g.112840727T>ACA446209602APCc.5187T>A (p.Pro1729=)
c.*5139T>A (n.*5139T>A)
c.5079T>A (p.Pro1693=)
c.5133T>A (p.Pro1711=)
c.*4455T>A (n.*4455T>A)
c.230+11755T>A
c.5163T>A (p.Pro1721=)
c.5058T>A (p.Pro1686=)
c.5049T>A (p.Pro1683=)
c.5010T>A (p.Pro1670=)
c.4956T>A (p.Pro1652=)
c.4860T>A (p.Pro1620=)
c.4830T>A (p.Pro1610=)
c.4755T>A (p.Pro1585=)
c.4653T>A (p.Pro1551=)
c.4284T>A (p.Pro1428=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840727T>CCA040701APCc.5187T>C (p.Pro1729=)
c.*5139T>C (n.*5139T>C)
c.5079T>C (p.Pro1693=)
c.5133T>C (p.Pro1711=)
c.*4455T>C (n.*4455T>C)
c.230+11755T>C
c.5163T>C (p.Pro1721=)
c.5058T>C (p.Pro1686=)
c.5049T>C (p.Pro1683=)
c.5010T>C (p.Pro1670=)
c.4956T>C (p.Pro1652=)
c.4860T>C (p.Pro1620=)
c.4830T>C (p.Pro1610=)
c.4755T>C (p.Pro1585=)
c.4653T>C (p.Pro1551=)
c.4284T>C (p.Pro1428=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840727T>GCA446209603APCc.5187T>G (p.Pro1729=)
c.*5139T>G (n.*5139T>G)
c.5079T>G (p.Pro1693=)
c.5133T>G (p.Pro1711=)
c.*4455T>G (n.*4455T>G)
c.230+11755T>G
c.5163T>G (p.Pro1721=)
c.5058T>G (p.Pro1686=)
c.5049T>G (p.Pro1683=)
c.5010T>G (p.Pro1670=)
c.4956T>G (p.Pro1652=)
c.4860T>G (p.Pro1620=)
c.4830T>G (p.Pro1610=)
c.4755T>G (p.Pro1585=)
c.4653T>G (p.Pro1551=)
c.4284T>G (p.Pro1428=)
 dbSNP
5g.112840727T=CA1573474020APCc.5187T= (p.Pro1729=)
c.*5139T= (n.*5139T=)
c.5079T= (p.Pro1693=)
c.5133T= (p.Pro1711=)
c.*4455T= (n.*4455T=)
c.230+11755T=
c.5163T= (p.Pro1721=)
c.5058T= (p.Pro1686=)
c.5049T= (p.Pro1683=)
c.5010T= (p.Pro1670=)
c.4956T= (p.Pro1652=)
c.4860T= (p.Pro1620=)
c.4830T= (p.Pro1610=)
c.4755T= (p.Pro1585=)
c.4653T= (p.Pro1551=)
c.4284T= (p.Pro1428=)
5g.112840729_112840733delCA917556717APCc.5189_5193del (p.Glu1730GlyfsTer2)
c.*5141_*5145del (n.*5141_*5145del)
c.5081_5085del (p.Glu1694GlyfsTer2)
c.5135_5139del (p.Glu1712GlyfsTer2)
c.*4457_*4461del (n.*4457_*4461del)
c.230+11757_230+11761del
c.5165_5169del (p.Glu1722GlyfsTer2)
c.5060_5064del (p.Glu1687GlyfsTer2)
c.5051_5055del (p.Glu1684GlyfsTer2)
c.5012_5016del (p.Glu1671GlyfsTer2)
c.4958_4962del (p.Glu1653GlyfsTer2)
c.4862_4866del (p.Glu1621GlyfsTer2)
c.4832_4836del (p.Glu1611GlyfsTer2)
c.4757_4761del (p.Glu1586GlyfsTer2)
c.4655_4659del (p.Glu1552GlyfsTer2)
c.4286_4290del (p.Glu1429GlyfsTer2)
 dbSNP
5g.112840728G>ACA16032548APCc.5188G>A (p.Glu1730Lys)
c.*5140G>A (n.*5140G>A)
c.5080G>A (p.Glu1694Lys)
c.5134G>A (p.Glu1712Lys)
c.*4456G>A (n.*4456G>A)
c.230+11756G>A
c.5164G>A (p.Glu1722Lys)
c.5059G>A (p.Glu1687Lys)
c.5050G>A (p.Glu1684Lys)
c.5011G>A (p.Glu1671Lys)
c.4957G>A (p.Glu1653Lys)
c.4861G>A (p.Glu1621Lys)
c.4831G>A (p.Glu1611Lys)
c.4756G>A (p.Glu1586Lys)
c.4654G>A (p.Glu1552Lys)
c.4285G>A (p.Glu1429Lys)
 dbSNP gnomAD v4 COSMIC
5g.112840728G>CCA16032549APCc.5188G>C (p.Glu1730Gln)
c.*5140G>C (n.*5140G>C)
c.5080G>C (p.Glu1694Gln)
c.5134G>C (p.Glu1712Gln)
c.*4456G>C (n.*4456G>C)
c.230+11756G>C
c.5164G>C (p.Glu1722Gln)
c.5059G>C (p.Glu1687Gln)
c.5050G>C (p.Glu1684Gln)
c.5011G>C (p.Glu1671Gln)
c.4957G>C (p.Glu1653Gln)
c.4861G>C (p.Glu1621Gln)
c.4831G>C (p.Glu1611Gln)
c.4756G>C (p.Glu1586Gln)
c.4654G>C (p.Glu1552Gln)
c.4285G>C (p.Glu1429Gln)
 dbSNP
5g.112840728G>TCA16032550APCc.5188G>T (p.Glu1730Ter)
c.*5140G>T (n.*5140G>T)
c.5080G>T (p.Glu1694Ter)
c.5134G>T (p.Glu1712Ter)
c.*4456G>T (n.*4456G>T)
c.230+11756G>T
c.5164G>T (p.Glu1722Ter)
c.5059G>T (p.Glu1687Ter)
c.5050G>T (p.Glu1684Ter)
c.5011G>T (p.Glu1671Ter)
c.4957G>T (p.Glu1653Ter)
c.4861G>T (p.Glu1621Ter)
c.4831G>T (p.Glu1611Ter)
c.4756G>T (p.Glu1586Ter)
c.4654G>T (p.Glu1552Ter)
c.4285G>T (p.Glu1429Ter)
 dbSNP
5g.112840729A>CCA16032551APCc.5189A>C (p.Glu1730Ala)
c.*5141A>C (n.*5141A>C)
c.5081A>C (p.Glu1694Ala)
c.5135A>C (p.Glu1712Ala)
c.*4457A>C (n.*4457A>C)
c.230+11757A>C
c.5165A>C (p.Glu1722Ala)
c.5060A>C (p.Glu1687Ala)
c.5051A>C (p.Glu1684Ala)
c.5012A>C (p.Glu1671Ala)
c.4958A>C (p.Glu1653Ala)
c.4862A>C (p.Glu1621Ala)
c.4832A>C (p.Glu1611Ala)
c.4757A>C (p.Glu1586Ala)
c.4655A>C (p.Glu1552Ala)
c.4286A>C (p.Glu1429Ala)
5g.112840729A>GCA16032552APCc.5189A>G (p.Glu1730Gly)
c.*5141A>G (n.*5141A>G)
c.5081A>G (p.Glu1694Gly)
c.5135A>G (p.Glu1712Gly)
c.*4457A>G (n.*4457A>G)
c.230+11757A>G
c.5165A>G (p.Glu1722Gly)
c.5060A>G (p.Glu1687Gly)
c.5051A>G (p.Glu1684Gly)
c.5012A>G (p.Glu1671Gly)
c.4958A>G (p.Glu1653Gly)
c.4862A>G (p.Glu1621Gly)
c.4832A>G (p.Glu1611Gly)
c.4757A>G (p.Glu1586Gly)
c.4655A>G (p.Glu1552Gly)
c.4286A>G (p.Glu1429Gly)
 dbSNP
5g.112840729A>TCA16032553APCc.5189A>T (p.Glu1730Val)
c.*5141A>T (n.*5141A>T)
c.5081A>T (p.Glu1694Val)
c.5135A>T (p.Glu1712Val)
c.*4457A>T (n.*4457A>T)
c.230+11757A>T
c.5165A>T (p.Glu1722Val)
c.5060A>T (p.Glu1687Val)
c.5051A>T (p.Glu1684Val)
c.5012A>T (p.Glu1671Val)
c.4958A>T (p.Glu1653Val)
c.4862A>T (p.Glu1621Val)
c.4832A>T (p.Glu1611Val)
c.4757A>T (p.Glu1586Val)
c.4655A>T (p.Glu1552Val)
c.4286A>T (p.Glu1429Val)
 dbSNP
5g.112840730A=CA1573474030APCc.5190A= (p.Glu1730=)
c.*5142A= (n.*5142A=)
c.5082A= (p.Glu1694=)
c.5136A= (p.Glu1712=)
c.*4458A= (n.*4458A=)
c.230+11758A=
c.5166A= (p.Glu1722=)
c.5061A= (p.Glu1687=)
c.5052A= (p.Glu1684=)
c.5013A= (p.Glu1671=)
c.4959A= (p.Glu1653=)
c.4863A= (p.Glu1621=)
c.4833A= (p.Glu1611=)
c.4758A= (p.Glu1586=)
c.4656A= (p.Glu1552=)
c.4287A= (p.Glu1429=)
5g.112840730A>CCA16032554APCc.5190A>C (p.Glu1730Asp)
c.*5142A>C (n.*5142A>C)
c.5082A>C (p.Glu1694Asp)
c.5136A>C (p.Glu1712Asp)
c.*4458A>C (n.*4458A>C)
c.230+11758A>C
c.5166A>C (p.Glu1722Asp)
c.5061A>C (p.Glu1687Asp)
c.5052A>C (p.Glu1684Asp)
c.5013A>C (p.Glu1671Asp)
c.4959A>C (p.Glu1653Asp)
c.4863A>C (p.Glu1621Asp)
c.4833A>C (p.Glu1611Asp)
c.4758A>C (p.Glu1586Asp)
c.4656A>C (p.Glu1552Asp)
c.4287A>C (p.Glu1429Asp)
 dbSNP
5g.112840730A>GCA040722APCc.5190A>G (p.Glu1730=)
c.*5142A>G (n.*5142A>G)
c.5082A>G (p.Glu1694=)
c.5136A>G (p.Glu1712=)
c.*4458A>G (n.*4458A>G)
c.230+11758A>G
c.5166A>G (p.Glu1722=)
c.5061A>G (p.Glu1687=)
c.5052A>G (p.Glu1684=)
c.5013A>G (p.Glu1671=)
c.4959A>G (p.Glu1653=)
c.4863A>G (p.Glu1621=)
c.4833A>G (p.Glu1611=)
c.4758A>G (p.Glu1586=)
c.4656A>G (p.Glu1552=)
c.4287A>G (p.Glu1429=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840730A>TCA16032555APCc.5190A>T (p.Glu1730Asp)
c.*5142A>T (n.*5142A>T)
c.5082A>T (p.Glu1694Asp)
c.5136A>T (p.Glu1712Asp)
c.*4458A>T (n.*4458A>T)
c.230+11758A>T
c.5166A>T (p.Glu1722Asp)
c.5061A>T (p.Glu1687Asp)
c.5052A>T (p.Glu1684Asp)
c.5013A>T (p.Glu1671Asp)
c.4959A>T (p.Glu1653Asp)
c.4863A>T (p.Glu1621Asp)
c.4833A>T (p.Glu1611Asp)
c.4758A>T (p.Glu1586Asp)
c.4656A>T (p.Glu1552Asp)
c.4287A>T (p.Glu1429Asp)
 dbSNP
5g.112840731T>ACA16032556APCc.5191T>A (p.Leu1731Met)
c.*5143T>A (n.*5143T>A)
c.5083T>A (p.Leu1695Met)
c.5137T>A (p.Leu1713Met)
c.*4459T>A (n.*4459T>A)
c.230+11759T>A
c.5167T>A (p.Leu1723Met)
c.5062T>A (p.Leu1688Met)
c.5053T>A (p.Leu1685Met)
c.5014T>A (p.Leu1672Met)
c.4960T>A (p.Leu1654Met)
c.4864T>A (p.Leu1622Met)
c.4834T>A (p.Leu1612Met)
c.4759T>A (p.Leu1587Met)
c.4657T>A (p.Leu1553Met)
c.4288T>A (p.Leu1430Met)
 dbSNP
5g.112840731T>CCA446209604APCc.5191T>C (p.Leu1731=)
c.*5143T>C (n.*5143T>C)
c.5083T>C (p.Leu1695=)
c.5137T>C (p.Leu1713=)
c.*4459T>C (n.*4459T>C)
c.230+11759T>C
c.5167T>C (p.Leu1723=)
c.5062T>C (p.Leu1688=)
c.5053T>C (p.Leu1685=)
c.5014T>C (p.Leu1672=)
c.4960T>C (p.Leu1654=)
c.4864T>C (p.Leu1622=)
c.4834T>C (p.Leu1612=)
c.4759T>C (p.Leu1587=)
c.4657T>C (p.Leu1553=)
c.4288T>C (p.Leu1430=)
 ClinVar dbSNP gnomAD v4
5g.112840731T>GCA16032557APCc.5191T>G (p.Leu1731Val)
c.*5143T>G (n.*5143T>G)
c.5083T>G (p.Leu1695Val)
c.5137T>G (p.Leu1713Val)
c.*4459T>G (n.*4459T>G)
c.230+11759T>G
c.5167T>G (p.Leu1723Val)
c.5062T>G (p.Leu1688Val)
c.5053T>G (p.Leu1685Val)
c.5014T>G (p.Leu1672Val)
c.4960T>G (p.Leu1654Val)
c.4864T>G (p.Leu1622Val)
c.4834T>G (p.Leu1612Val)
c.4759T>G (p.Leu1587Val)
c.4657T>G (p.Leu1553Val)
c.4288T>G (p.Leu1430Val)
 dbSNP
5g.112840731T=CA1573474038APCc.5191T= (p.Leu1731=)
c.*5143T= (n.*5143T=)
c.5083T= (p.Leu1695=)
c.5137T= (p.Leu1713=)
c.*4459T= (n.*4459T=)
c.230+11759T=
c.5167T= (p.Leu1723=)
c.5062T= (p.Leu1688=)
c.5053T= (p.Leu1685=)
c.5014T= (p.Leu1672=)
c.4960T= (p.Leu1654=)
c.4864T= (p.Leu1622=)
c.4834T= (p.Leu1612=)
c.4759T= (p.Leu1587=)
c.4657T= (p.Leu1553=)
c.4288T= (p.Leu1430=)
5g.112840732T>ACA16032558APCc.5192T>A (p.Leu1731Ter)
c.*5144T>A (n.*5144T>A)
c.5084T>A (p.Leu1695Ter)
c.5138T>A (p.Leu1713Ter)
c.*4460T>A (n.*4460T>A)
c.230+11760T>A
c.5168T>A (p.Leu1723Ter)
c.5063T>A (p.Leu1688Ter)
c.5054T>A (p.Leu1685Ter)
c.5015T>A (p.Leu1672Ter)
c.4961T>A (p.Leu1654Ter)
c.4865T>A (p.Leu1622Ter)
c.4835T>A (p.Leu1612Ter)
c.4760T>A (p.Leu1587Ter)
c.4658T>A (p.Leu1553Ter)
c.4289T>A (p.Leu1430Ter)
5g.112840732T>CCA009879APCc.5192T>C (p.Leu1731Ser)
c.*5144T>C (n.*5144T>C)
c.5084T>C (p.Leu1695Ser)
c.5138T>C (p.Leu1713Ser)
c.*4460T>C (n.*4460T>C)
c.230+11760T>C
c.5168T>C (p.Leu1723Ser)
c.5063T>C (p.Leu1688Ser)
c.5054T>C (p.Leu1685Ser)
c.5015T>C (p.Leu1672Ser)
c.4961T>C (p.Leu1654Ser)
c.4865T>C (p.Leu1622Ser)
c.4835T>C (p.Leu1612Ser)
c.4760T>C (p.Leu1587Ser)
c.4658T>C (p.Leu1553Ser)
c.4289T>C (p.Leu1430Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840732T>GCA16032559APCc.5192T>G (p.Leu1731Trp)
c.*5144T>G (n.*5144T>G)
c.5084T>G (p.Leu1695Trp)
c.5138T>G (p.Leu1713Trp)
c.*4460T>G (n.*4460T>G)
c.230+11760T>G
c.5168T>G (p.Leu1723Trp)
c.5063T>G (p.Leu1688Trp)
c.5054T>G (p.Leu1685Trp)
c.5015T>G (p.Leu1672Trp)
c.4961T>G (p.Leu1654Trp)
c.4865T>G (p.Leu1622Trp)
c.4835T>G (p.Leu1612Trp)
c.4760T>G (p.Leu1587Trp)
c.4658T>G (p.Leu1553Trp)
c.4289T>G (p.Leu1430Trp)
5g.112840732T=CA1573474050APCc.5192T= (p.Leu1731=)
c.*5144T= (n.*5144T=)
c.5084T= (p.Leu1695=)
c.5138T= (p.Leu1713=)
c.*4460T= (n.*4460T=)
c.230+11760T=
c.5168T= (p.Leu1723=)
c.5063T= (p.Leu1688=)
c.5054T= (p.Leu1685=)
c.5015T= (p.Leu1672=)
c.4961T= (p.Leu1654=)
c.4865T= (p.Leu1622=)
c.4835T= (p.Leu1612=)
c.4760T= (p.Leu1587=)
c.4658T= (p.Leu1553=)
c.4289T= (p.Leu1430=)

Number of alleles fetched