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.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.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=)
5g.112840733G>ACA446209605APCc.5193G>A (p.Leu1731=)
c.*5145G>A (n.*5145G>A)
c.5085G>A (p.Leu1695=)
c.5139G>A (p.Leu1713=)
c.*4461G>A (n.*4461G>A)
c.230+11761G>A
c.5169G>A (p.Leu1723=)
c.5064G>A (p.Leu1688=)
c.5055G>A (p.Leu1685=)
c.5016G>A (p.Leu1672=)
c.4962G>A (p.Leu1654=)
c.4866G>A (p.Leu1622=)
c.4836G>A (p.Leu1612=)
c.4761G>A (p.Leu1587=)
c.4659G>A (p.Leu1553=)
c.4290G>A (p.Leu1430=)
 ClinVar dbSNP
5g.112840733G>CCA16032560APCc.5193G>C (p.Leu1731Phe)
c.*5145G>C (n.*5145G>C)
c.5085G>C (p.Leu1695Phe)
c.5139G>C (p.Leu1713Phe)
c.*4461G>C (n.*4461G>C)
c.230+11761G>C
c.5169G>C (p.Leu1723Phe)
c.5064G>C (p.Leu1688Phe)
c.5055G>C (p.Leu1685Phe)
c.5016G>C (p.Leu1672Phe)
c.4962G>C (p.Leu1654Phe)
c.4866G>C (p.Leu1622Phe)
c.4836G>C (p.Leu1612Phe)
c.4761G>C (p.Leu1587Phe)
c.4659G>C (p.Leu1553Phe)
c.4290G>C (p.Leu1430Phe)
 dbSNP gnomAD v4
5g.112840733G>TCA16032561APCc.5193G>T (p.Leu1731Phe)
c.*5145G>T (n.*5145G>T)
c.5085G>T (p.Leu1695Phe)
c.5139G>T (p.Leu1713Phe)
c.*4461G>T (n.*4461G>T)
c.230+11761G>T
c.5169G>T (p.Leu1723Phe)
c.5064G>T (p.Leu1688Phe)
c.5055G>T (p.Leu1685Phe)
c.5016G>T (p.Leu1672Phe)
c.4962G>T (p.Leu1654Phe)
c.4866G>T (p.Leu1622Phe)
c.4836G>T (p.Leu1612Phe)
c.4761G>T (p.Leu1587Phe)
c.4659G>T (p.Leu1553Phe)
c.4290G>T (p.Leu1430Phe)
 dbSNP
5g.112840734G>ACA009886APCc.5194G>A (p.Asp1732Asn)
c.*5146G>A (n.*5146G>A)
c.5086G>A (p.Asp1696Asn)
c.5140G>A (p.Asp1714Asn)
c.*4462G>A (n.*4462G>A)
c.230+11762G>A
c.5170G>A (p.Asp1724Asn)
c.5065G>A (p.Asp1689Asn)
c.5056G>A (p.Asp1686Asn)
c.5017G>A (p.Asp1673Asn)
c.4963G>A (p.Asp1655Asn)
c.4867G>A (p.Asp1623Asn)
c.4837G>A (p.Asp1613Asn)
c.4762G>A (p.Asp1588Asn)
c.4660G>A (p.Asp1554Asn)
c.4291G>A (p.Asp1431Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840734G>CCA338323APCc.5194G>C (p.Asp1732His)
c.*5146G>C (n.*5146G>C)
c.5086G>C (p.Asp1696His)
c.5140G>C (p.Asp1714His)
c.*4462G>C (n.*4462G>C)
c.230+11762G>C
c.5170G>C (p.Asp1724His)
c.5065G>C (p.Asp1689His)
c.5056G>C (p.Asp1686His)
c.5017G>C (p.Asp1673His)
c.4963G>C (p.Asp1655His)
c.4867G>C (p.Asp1623His)
c.4837G>C (p.Asp1613His)
c.4762G>C (p.Asp1588His)
c.4660G>C (p.Asp1554His)
c.4291G>C (p.Asp1431His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840734G=CA1573474060APCc.5194G= (p.Asp1732=)
c.*5146G= (n.*5146G=)
c.5086G= (p.Asp1696=)
c.5140G= (p.Asp1714=)
c.*4462G= (n.*4462G=)
c.230+11762G=
c.5170G= (p.Asp1724=)
c.5065G= (p.Asp1689=)
c.5056G= (p.Asp1686=)
c.5017G= (p.Asp1673=)
c.4963G= (p.Asp1655=)
c.4867G= (p.Asp1623=)
c.4837G= (p.Asp1613=)
c.4762G= (p.Asp1588=)
c.4660G= (p.Asp1554=)
c.4291G= (p.Asp1431=)
5g.112840734G>TCA16032562APCc.5194G>T (p.Asp1732Tyr)
c.*5146G>T (n.*5146G>T)
c.5086G>T (p.Asp1696Tyr)
c.5140G>T (p.Asp1714Tyr)
c.*4462G>T (n.*4462G>T)
c.230+11762G>T
c.5170G>T (p.Asp1724Tyr)
c.5065G>T (p.Asp1689Tyr)
c.5056G>T (p.Asp1686Tyr)
c.5017G>T (p.Asp1673Tyr)
c.4963G>T (p.Asp1655Tyr)
c.4867G>T (p.Asp1623Tyr)
c.4837G>T (p.Asp1613Tyr)
c.4762G>T (p.Asp1588Tyr)
c.4660G>T (p.Asp1554Tyr)
c.4291G>T (p.Asp1431Tyr)
 dbSNP gnomAD v4 COSMIC
5g.112840735delCA2580072619APCc.5195del (p.Asp1732ValfsTer30)
c.*5147del (n.*5147del)
c.5087del (p.Asp1696ValfsTer30)
c.5141del (p.Asp1714ValfsTer30)
c.*4463del (n.*4463del)
c.230+11763del
c.5171del (p.Asp1724ValfsTer30)
c.5066del (p.Asp1689ValfsTer30)
c.5057del (p.Asp1686ValfsTer30)
c.5018del (p.Asp1673ValfsTer30)
c.4964del (p.Asp1655ValfsTer30)
c.4868del (p.Asp1623ValfsTer30)
c.4838del (p.Asp1613ValfsTer30)
c.4763del (p.Asp1588ValfsTer30)
c.4661del (p.Asp1554ValfsTer30)
c.4292del (p.Asp1431ValfsTer30)
 ClinVar
5g.112840735A=CA1573474070APCc.5195A= (p.Asp1732=)
c.*5147A= (n.*5147A=)
c.5087A= (p.Asp1696=)
c.5141A= (p.Asp1714=)
c.*4463A= (n.*4463A=)
c.230+11763A=
c.5171A= (p.Asp1724=)
c.5066A= (p.Asp1689=)
c.5057A= (p.Asp1686=)
c.5018A= (p.Asp1673=)
c.4964A= (p.Asp1655=)
c.4868A= (p.Asp1623=)
c.4838A= (p.Asp1613=)
c.4763A= (p.Asp1588=)
c.4661A= (p.Asp1554=)
c.4292A= (p.Asp1431=)
5g.112840735A>CCA16032563APCc.5195A>C (p.Asp1732Ala)
c.*5147A>C (n.*5147A>C)
c.5087A>C (p.Asp1696Ala)
c.5141A>C (p.Asp1714Ala)
c.*4463A>C (n.*4463A>C)
c.230+11763A>C
c.5171A>C (p.Asp1724Ala)
c.5066A>C (p.Asp1689Ala)
c.5057A>C (p.Asp1686Ala)
c.5018A>C (p.Asp1673Ala)
c.4964A>C (p.Asp1655Ala)
c.4868A>C (p.Asp1623Ala)
c.4838A>C (p.Asp1613Ala)
c.4763A>C (p.Asp1588Ala)
c.4661A>C (p.Asp1554Ala)
c.4292A>C (p.Asp1431Ala)
 dbSNP
5g.112840735A>GCA16032564APCc.5195A>G (p.Asp1732Gly)
c.*5147A>G (n.*5147A>G)
c.5087A>G (p.Asp1696Gly)
c.5141A>G (p.Asp1714Gly)
c.*4463A>G (n.*4463A>G)
c.230+11763A>G
c.5171A>G (p.Asp1724Gly)
c.5066A>G (p.Asp1689Gly)
c.5057A>G (p.Asp1686Gly)
c.5018A>G (p.Asp1673Gly)
c.4964A>G (p.Asp1655Gly)
c.4868A>G (p.Asp1623Gly)
c.4838A>G (p.Asp1613Gly)
c.4763A>G (p.Asp1588Gly)
c.4661A>G (p.Asp1554Gly)
c.4292A>G (p.Asp1431Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840735A>TCA16032565APCc.5195A>T (p.Asp1732Val)
c.*5147A>T (n.*5147A>T)
c.5087A>T (p.Asp1696Val)
c.5141A>T (p.Asp1714Val)
c.*4463A>T (n.*4463A>T)
c.230+11763A>T
c.5171A>T (p.Asp1724Val)
c.5066A>T (p.Asp1689Val)
c.5057A>T (p.Asp1686Val)
c.5018A>T (p.Asp1673Val)
c.4964A>T (p.Asp1655Val)
c.4868A>T (p.Asp1623Val)
c.4838A>T (p.Asp1613Val)
c.4763A>T (p.Asp1588Val)
c.4661A>T (p.Asp1554Val)
c.4292A>T (p.Asp1431Val)
 dbSNP
5g.112840736T>ACA16032566APCc.5196T>A (p.Asp1732Glu)
c.*5148T>A (n.*5148T>A)
c.5088T>A (p.Asp1696Glu)
c.5142T>A (p.Asp1714Glu)
c.*4464T>A (n.*4464T>A)
c.230+11764T>A
c.5172T>A (p.Asp1724Glu)
c.5067T>A (p.Asp1689Glu)
c.5058T>A (p.Asp1686Glu)
c.5019T>A (p.Asp1673Glu)
c.4965T>A (p.Asp1655Glu)
c.4869T>A (p.Asp1623Glu)
c.4839T>A (p.Asp1613Glu)
c.4764T>A (p.Asp1588Glu)
c.4662T>A (p.Asp1554Glu)
c.4293T>A (p.Asp1431Glu)
 ClinVar dbSNP
5g.112840736T>CCA446209606APCc.5196T>C (p.Asp1732=)
c.*5148T>C (n.*5148T>C)
c.5088T>C (p.Asp1696=)
c.5142T>C (p.Asp1714=)
c.*4464T>C (n.*4464T>C)
c.230+11764T>C
c.5172T>C (p.Asp1724=)
c.5067T>C (p.Asp1689=)
c.5058T>C (p.Asp1686=)
c.5019T>C (p.Asp1673=)
c.4965T>C (p.Asp1655=)
c.4869T>C (p.Asp1623=)
c.4839T>C (p.Asp1613=)
c.4764T>C (p.Asp1588=)
c.4662T>C (p.Asp1554=)
c.4293T>C (p.Asp1431=)
 ClinVar gnomAD v4
5g.112840736T>GCA16032567APCc.5196T>G (p.Asp1732Glu)
c.*5148T>G (n.*5148T>G)
c.5088T>G (p.Asp1696Glu)
c.5142T>G (p.Asp1714Glu)
c.*4464T>G (n.*4464T>G)
c.230+11764T>G
c.5172T>G (p.Asp1724Glu)
c.5067T>G (p.Asp1689Glu)
c.5058T>G (p.Asp1686Glu)
c.5019T>G (p.Asp1673Glu)
c.4965T>G (p.Asp1655Glu)
c.4869T>G (p.Asp1623Glu)
c.4839T>G (p.Asp1613Glu)
c.4764T>G (p.Asp1588Glu)
c.4662T>G (p.Asp1554Glu)
c.4293T>G (p.Asp1431Glu)
 dbSNP
5g.112840736T=CA1573474086APCc.5196T= (p.Asp1732=)
c.*5148T= (n.*5148T=)
c.5088T= (p.Asp1696=)
c.5142T= (p.Asp1714=)
c.*4464T= (n.*4464T=)
c.230+11764T=
c.5172T= (p.Asp1724=)
c.5067T= (p.Asp1689=)
c.5058T= (p.Asp1686=)
c.5019T= (p.Asp1673=)
c.4965T= (p.Asp1655=)
c.4869T= (p.Asp1623=)
c.4839T= (p.Asp1613=)
c.4764T= (p.Asp1588=)
c.4662T= (p.Asp1554=)
c.4293T= (p.Asp1431=)
5g.112840737G>ACA16032568APCc.5197G>A (p.Asp1733Asn)
c.*5149G>A (n.*5149G>A)
c.5089G>A (p.Asp1697Asn)
c.5143G>A (p.Asp1715Asn)
c.*4465G>A (n.*4465G>A)
c.230+11765G>A
c.5173G>A (p.Asp1725Asn)
c.5068G>A (p.Asp1690Asn)
c.5059G>A (p.Asp1687Asn)
c.5020G>A (p.Asp1674Asn)
c.4966G>A (p.Asp1656Asn)
c.4870G>A (p.Asp1624Asn)
c.4840G>A (p.Asp1614Asn)
c.4765G>A (p.Asp1589Asn)
c.4663G>A (p.Asp1555Asn)
c.4294G>A (p.Asp1432Asn)
 ClinVar dbSNP
5g.112840737G>CCA16032569APCc.5197G>C (p.Asp1733His)
c.*5149G>C (n.*5149G>C)
c.5089G>C (p.Asp1697His)
c.5143G>C (p.Asp1715His)
c.*4465G>C (n.*4465G>C)
c.230+11765G>C
c.5173G>C (p.Asp1725His)
c.5068G>C (p.Asp1690His)
c.5059G>C (p.Asp1687His)
c.5020G>C (p.Asp1674His)
c.4966G>C (p.Asp1656His)
c.4870G>C (p.Asp1624His)
c.4840G>C (p.Asp1614His)
c.4765G>C (p.Asp1589His)
c.4663G>C (p.Asp1555His)
c.4294G>C (p.Asp1432His)
 dbSNP
5g.112840737G>TCA16032570APCc.5197G>T (p.Asp1733Tyr)
c.*5149G>T (n.*5149G>T)
c.5089G>T (p.Asp1697Tyr)
c.5143G>T (p.Asp1715Tyr)
c.*4465G>T (n.*4465G>T)
c.230+11765G>T
c.5173G>T (p.Asp1725Tyr)
c.5068G>T (p.Asp1690Tyr)
c.5059G>T (p.Asp1687Tyr)
c.5020G>T (p.Asp1674Tyr)
c.4966G>T (p.Asp1656Tyr)
c.4870G>T (p.Asp1624Tyr)
c.4840G>T (p.Asp1614Tyr)
c.4765G>T (p.Asp1589Tyr)
c.4663G>T (p.Asp1555Tyr)
c.4294G>T (p.Asp1432Tyr)
5g.112840738A>CCA16032571APCc.5198A>C (p.Asp1733Ala)
c.*5150A>C (n.*5150A>C)
c.5090A>C (p.Asp1697Ala)
c.5144A>C (p.Asp1715Ala)
c.*4466A>C (n.*4466A>C)
c.230+11766A>C
c.5174A>C (p.Asp1725Ala)
c.5069A>C (p.Asp1690Ala)
c.5060A>C (p.Asp1687Ala)
c.5021A>C (p.Asp1674Ala)
c.4967A>C (p.Asp1656Ala)
c.4871A>C (p.Asp1624Ala)
c.4841A>C (p.Asp1614Ala)
c.4766A>C (p.Asp1589Ala)
c.4664A>C (p.Asp1555Ala)
c.4295A>C (p.Asp1432Ala)
5g.112840738A>GCA16032572APCc.5198A>G (p.Asp1733Gly)
c.*5150A>G (n.*5150A>G)
c.5090A>G (p.Asp1697Gly)
c.5144A>G (p.Asp1715Gly)
c.*4466A>G (n.*4466A>G)
c.230+11766A>G
c.5174A>G (p.Asp1725Gly)
c.5069A>G (p.Asp1690Gly)
c.5060A>G (p.Asp1687Gly)
c.5021A>G (p.Asp1674Gly)
c.4967A>G (p.Asp1656Gly)
c.4871A>G (p.Asp1624Gly)
c.4841A>G (p.Asp1614Gly)
c.4766A>G (p.Asp1589Gly)
c.4664A>G (p.Asp1555Gly)
c.4295A>G (p.Asp1432Gly)
 ClinVar dbSNP
5g.112840738A>TCA16032573APCc.5198A>T (p.Asp1733Val)
c.*5150A>T (n.*5150A>T)
c.5090A>T (p.Asp1697Val)
c.5144A>T (p.Asp1715Val)
c.*4466A>T (n.*4466A>T)
c.230+11766A>T
c.5174A>T (p.Asp1725Val)
c.5069A>T (p.Asp1690Val)
c.5060A>T (p.Asp1687Val)
c.5021A>T (p.Asp1674Val)
c.4967A>T (p.Asp1656Val)
c.4871A>T (p.Asp1624Val)
c.4841A>T (p.Asp1614Val)
c.4766A>T (p.Asp1589Val)
c.4664A>T (p.Asp1555Val)
c.4295A>T (p.Asp1432Val)
5g.112840738_112840739delinsACCA1573474090APCc.5198_5199delinsAC (p.Asp1733=)
c.*5150_*5151delinsAC (n.*5150_*5151delinsAC)
c.5090_5091delinsAC (p.Asp1697=)
c.5144_5145delinsAC (p.Asp1715=)
c.*4466_*4467delinsAC (n.*4466_*4467delinsAC)
c.230+11766_230+11767delinsAC
c.5174_5175delinsAC (p.Asp1725=)
c.5069_5070delinsAC (p.Asp1690=)
c.5060_5061delinsAC (p.Asp1687=)
c.5021_5022delinsAC (p.Asp1674=)
c.4967_4968delinsAC (p.Asp1656=)
c.4871_4872delinsAC (p.Asp1624=)
c.4841_4842delinsAC (p.Asp1614=)
c.4766_4767delinsAC (p.Asp1589=)
c.4664_4665delinsAC (p.Asp1555=)
c.4295_4296delinsAC (p.Asp1432=)
5g.112840739delCA279714APCc.5199del (p.Asp1733GlufsTer29)
c.*5151del (n.*5151del)
c.5091del (p.Asp1697GlufsTer29)
c.5145del (p.Asp1715GlufsTer29)
c.*4467del (n.*4467del)
c.230+11767del
c.5175del (p.Asp1725GlufsTer29)
c.5070del (p.Asp1690GlufsTer29)
c.5061del (p.Asp1687GlufsTer29)
c.5022del (p.Asp1674GlufsTer29)
c.4968del (p.Asp1656GlufsTer29)
c.4872del (p.Asp1624GlufsTer29)
c.4842del (p.Asp1614GlufsTer29)
c.4767del (p.Asp1589GlufsTer29)
c.4665del (p.Asp1555GlufsTer29)
c.4296del (p.Asp1432GlufsTer29)
 ClinVar dbSNP
5g.112840739C>ACA16032574APCc.5199C>A (p.Asp1733Glu)
c.*5151C>A (n.*5151C>A)
c.5091C>A (p.Asp1697Glu)
c.5145C>A (p.Asp1715Glu)
c.*4467C>A (n.*4467C>A)
c.230+11767C>A
c.5175C>A (p.Asp1725Glu)
c.5070C>A (p.Asp1690Glu)
c.5061C>A (p.Asp1687Glu)
c.5022C>A (p.Asp1674Glu)
c.4968C>A (p.Asp1656Glu)
c.4872C>A (p.Asp1624Glu)
c.4842C>A (p.Asp1614Glu)
c.4767C>A (p.Asp1589Glu)
c.4665C>A (p.Asp1555Glu)
c.4296C>A (p.Asp1432Glu)
 ClinVar dbSNP
5g.112840739C=CA1573474101APCc.5199C= (p.Asp1733=)
c.*5151C= (n.*5151C=)
c.5091C= (p.Asp1697=)
c.5145C= (p.Asp1715=)
c.*4467C= (n.*4467C=)
c.230+11767C=
c.5175C= (p.Asp1725=)
c.5070C= (p.Asp1690=)
c.5061C= (p.Asp1687=)
c.5022C= (p.Asp1674=)
c.4968C= (p.Asp1656=)
c.4872C= (p.Asp1624=)
c.4842C= (p.Asp1614=)
c.4767C= (p.Asp1589=)
c.4665C= (p.Asp1555=)
c.4296C= (p.Asp1432=)
5g.112840739C>GCA16032575APCc.5199C>G (p.Asp1733Glu)
c.*5151C>G (n.*5151C>G)
c.5091C>G (p.Asp1697Glu)
c.5145C>G (p.Asp1715Glu)
c.*4467C>G (n.*4467C>G)
c.230+11767C>G
c.5175C>G (p.Asp1725Glu)
c.5070C>G (p.Asp1690Glu)
c.5061C>G (p.Asp1687Glu)
c.5022C>G (p.Asp1674Glu)
c.4968C>G (p.Asp1656Glu)
c.4872C>G (p.Asp1624Glu)
c.4842C>G (p.Asp1614Glu)
c.4767C>G (p.Asp1589Glu)
c.4665C>G (p.Asp1555Glu)
c.4296C>G (p.Asp1432Glu)
 ClinVar dbSNP
5g.112840739C>TCA446209607APCc.5199C>T (p.Asp1733=)
c.*5151C>T (n.*5151C>T)
c.5091C>T (p.Asp1697=)
c.5145C>T (p.Asp1715=)
c.*4467C>T (n.*4467C>T)
c.230+11767C>T
c.5175C>T (p.Asp1725=)
c.5070C>T (p.Asp1690=)
c.5061C>T (p.Asp1687=)
c.5022C>T (p.Asp1674=)
c.4968C>T (p.Asp1656=)
c.4872C>T (p.Asp1624=)
c.4842C>T (p.Asp1614=)
c.4767C>T (p.Asp1589=)
c.4665C>T (p.Asp1555=)
c.4296C>T (p.Asp1432=)
 ClinVar dbSNP gnomAD v4
5g.112840740A=CA1573474109APCc.5200A= (p.Asn1734=)
c.*5152A= (n.*5152A=)
c.5092A= (p.Asn1698=)
c.5146A= (p.Asn1716=)
c.*4468A= (n.*4468A=)
c.230+11768A=
c.5176A= (p.Asn1726=)
c.5071A= (p.Asn1691=)
c.5062A= (p.Asn1688=)
c.5023A= (p.Asn1675=)
c.4969A= (p.Asn1657=)
c.4873A= (p.Asn1625=)
c.4843A= (p.Asn1615=)
c.4768A= (p.Asn1590=)
c.4666A= (p.Asn1556=)
c.4297A= (p.Asn1433=)
5g.112840740A>CCA16032576APCc.5200A>C (p.Asn1734His)
c.*5152A>C (n.*5152A>C)
c.5092A>C (p.Asn1698His)
c.5146A>C (p.Asn1716His)
c.*4468A>C (n.*4468A>C)
c.230+11768A>C
c.5176A>C (p.Asn1726His)
c.5071A>C (p.Asn1691His)
c.5062A>C (p.Asn1688His)
c.5023A>C (p.Asn1675His)
c.4969A>C (p.Asn1657His)
c.4873A>C (p.Asn1625His)
c.4843A>C (p.Asn1615His)
c.4768A>C (p.Asn1590His)
c.4666A>C (p.Asn1556His)
c.4297A>C (p.Asn1433His)
 dbSNP
5g.112840740A>GCA16032577APCc.5200A>G (p.Asn1734Asp)
c.*5152A>G (n.*5152A>G)
c.5092A>G (p.Asn1698Asp)
c.5146A>G (p.Asn1716Asp)
c.*4468A>G (n.*4468A>G)
c.230+11768A>G
c.5176A>G (p.Asn1726Asp)
c.5071A>G (p.Asn1691Asp)
c.5062A>G (p.Asn1688Asp)
c.5023A>G (p.Asn1675Asp)
c.4969A>G (p.Asn1657Asp)
c.4873A>G (p.Asn1625Asp)
c.4843A>G (p.Asn1615Asp)
c.4768A>G (p.Asn1590Asp)
c.4666A>G (p.Asn1556Asp)
c.4297A>G (p.Asn1433Asp)
 dbSNP
5g.112840740A>TCA16032578APCc.5200A>T (p.Asn1734Tyr)
c.*5152A>T (n.*5152A>T)
c.5092A>T (p.Asn1698Tyr)
c.5146A>T (p.Asn1716Tyr)
c.*4468A>T (n.*4468A>T)
c.230+11768A>T
c.5176A>T (p.Asn1726Tyr)
c.5071A>T (p.Asn1691Tyr)
c.5062A>T (p.Asn1688Tyr)
c.5023A>T (p.Asn1675Tyr)
c.4969A>T (p.Asn1657Tyr)
c.4873A>T (p.Asn1625Tyr)
c.4843A>T (p.Asn1615Tyr)
c.4768A>T (p.Asn1590Tyr)
c.4666A>T (p.Asn1556Tyr)
c.4297A>T (p.Asn1433Tyr)
 dbSNP
5g.112840742_112840745delCA2573138671APCc.5202_5205del (p.Asn1734LysfsTer27)
c.*5154_*5157del (n.*5154_*5157del)
c.5094_5097del (p.Asn1698LysfsTer27)
c.5148_5151del (p.Asn1716LysfsTer27)
c.*4470_*4473del (n.*4470_*4473del)
c.230+11770_230+11773del
c.5178_5181del (p.Asn1726LysfsTer27)
c.5073_5076del (p.Asn1691LysfsTer27)
c.5064_5067del (p.Asn1688LysfsTer27)
c.5025_5028del (p.Asn1675LysfsTer27)
c.4971_4974del (p.Asn1657LysfsTer27)
c.4875_4878del (p.Asn1625LysfsTer27)
c.4845_4848del (p.Asn1615LysfsTer27)
c.4770_4773del (p.Asn1590LysfsTer27)
c.4668_4671del (p.Asn1556LysfsTer27)
c.4299_4302del (p.Asn1433LysfsTer27)
 ClinVar dbSNP
5g.112840741A=CA1573474112APCc.5201A= (p.Asn1734=)
c.*5153A= (n.*5153A=)
c.5093A= (p.Asn1698=)
c.5147A= (p.Asn1716=)
c.*4469A= (n.*4469A=)
c.230+11769A=
c.5177A= (p.Asn1726=)
c.5072A= (p.Asn1691=)
c.5063A= (p.Asn1688=)
c.5024A= (p.Asn1675=)
c.4970A= (p.Asn1657=)
c.4874A= (p.Asn1625=)
c.4844A= (p.Asn1615=)
c.4769A= (p.Asn1590=)
c.4667A= (p.Asn1556=)
c.4298A= (p.Asn1433=)
5g.112840741A>CCA16032579APCc.5201A>C (p.Asn1734Thr)
c.*5153A>C (n.*5153A>C)
c.5093A>C (p.Asn1698Thr)
c.5147A>C (p.Asn1716Thr)
c.*4469A>C (n.*4469A>C)
c.230+11769A>C
c.5177A>C (p.Asn1726Thr)
c.5072A>C (p.Asn1691Thr)
c.5063A>C (p.Asn1688Thr)
c.5024A>C (p.Asn1675Thr)
c.4970A>C (p.Asn1657Thr)
c.4874A>C (p.Asn1625Thr)
c.4844A>C (p.Asn1615Thr)
c.4769A>C (p.Asn1590Thr)
c.4667A>C (p.Asn1556Thr)
c.4298A>C (p.Asn1433Thr)
5g.112840741A>GCA040767APCc.5201A>G (p.Asn1734Ser)
c.*5153A>G (n.*5153A>G)
c.5093A>G (p.Asn1698Ser)
c.5147A>G (p.Asn1716Ser)
c.*4469A>G (n.*4469A>G)
c.230+11769A>G
c.5177A>G (p.Asn1726Ser)
c.5072A>G (p.Asn1691Ser)
c.5063A>G (p.Asn1688Ser)
c.5024A>G (p.Asn1675Ser)
c.4970A>G (p.Asn1657Ser)
c.4874A>G (p.Asn1625Ser)
c.4844A>G (p.Asn1615Ser)
c.4769A>G (p.Asn1590Ser)
c.4667A>G (p.Asn1556Ser)
c.4298A>G (p.Asn1433Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840741A>TCA16032580APCc.5201A>T (p.Asn1734Ile)
c.*5153A>T (n.*5153A>T)
c.5093A>T (p.Asn1698Ile)
c.5147A>T (p.Asn1716Ile)
c.*4469A>T (n.*4469A>T)
c.230+11769A>T
c.5177A>T (p.Asn1726Ile)
c.5072A>T (p.Asn1691Ile)
c.5063A>T (p.Asn1688Ile)
c.5024A>T (p.Asn1675Ile)
c.4970A>T (p.Asn1657Ile)
c.4874A>T (p.Asn1625Ile)
c.4844A>T (p.Asn1615Ile)
c.4769A>T (p.Asn1590Ile)
c.4667A>T (p.Asn1556Ile)
c.4298A>T (p.Asn1433Ile)
 dbSNP
5g.112840742T>ACA16032581APCc.5202T>A (p.Asn1734Lys)
c.*5154T>A (n.*5154T>A)
c.5094T>A (p.Asn1698Lys)
c.5148T>A (p.Asn1716Lys)
c.*4470T>A (n.*4470T>A)
c.230+11770T>A
c.5178T>A (p.Asn1726Lys)
c.5073T>A (p.Asn1691Lys)
c.5064T>A (p.Asn1688Lys)
c.5025T>A (p.Asn1675Lys)
c.4971T>A (p.Asn1657Lys)
c.4875T>A (p.Asn1625Lys)
c.4845T>A (p.Asn1615Lys)
c.4770T>A (p.Asn1590Lys)
c.4668T>A (p.Asn1556Lys)
c.4299T>A (p.Asn1433Lys)
 dbSNP
5g.112840742T>CCA446209608APCc.5202T>C (p.Asn1734=)
c.*5154T>C (n.*5154T>C)
c.5094T>C (p.Asn1698=)
c.5148T>C (p.Asn1716=)
c.*4470T>C (n.*4470T>C)
c.230+11770T>C
c.5178T>C (p.Asn1726=)
c.5073T>C (p.Asn1691=)
c.5064T>C (p.Asn1688=)
c.5025T>C (p.Asn1675=)
c.4971T>C (p.Asn1657=)
c.4875T>C (p.Asn1625=)
c.4845T>C (p.Asn1615=)
c.4770T>C (p.Asn1590=)
c.4668T>C (p.Asn1556=)
c.4299T>C (p.Asn1433=)
 dbSNP
5g.112840742T>GCA16032582APCc.5202T>G (p.Asn1734Lys)
c.*5154T>G (n.*5154T>G)
c.5094T>G (p.Asn1698Lys)
c.5148T>G (p.Asn1716Lys)
c.*4470T>G (n.*4470T>G)
c.230+11770T>G
c.5178T>G (p.Asn1726Lys)
c.5073T>G (p.Asn1691Lys)
c.5064T>G (p.Asn1688Lys)
c.5025T>G (p.Asn1675Lys)
c.4971T>G (p.Asn1657Lys)
c.4875T>G (p.Asn1625Lys)
c.4845T>G (p.Asn1615Lys)
c.4770T>G (p.Asn1590Lys)
c.4668T>G (p.Asn1556Lys)
c.4299T>G (p.Asn1433Lys)
5g.112840743A=CA1573474118APCc.5203A= (p.Lys1735=)
c.*5155A= (n.*5155A=)
c.5095A= (p.Lys1699=)
c.5149A= (p.Lys1717=)
c.*4471A= (n.*4471A=)
c.230+11771A=
c.5179A= (p.Lys1727=)
c.5074A= (p.Lys1692=)
c.5065A= (p.Lys1689=)
c.5026A= (p.Lys1676=)
c.4972A= (p.Lys1658=)
c.4876A= (p.Lys1626=)
c.4846A= (p.Lys1616=)
c.4771A= (p.Lys1591=)
c.4669A= (p.Lys1557=)
c.4300A= (p.Lys1434=)
5g.112840743A>CCA16032583APCc.5203A>C (p.Lys1735Gln)
c.*5155A>C (n.*5155A>C)
c.5095A>C (p.Lys1699Gln)
c.5149A>C (p.Lys1717Gln)
c.*4471A>C (n.*4471A>C)
c.230+11771A>C
c.5179A>C (p.Lys1727Gln)
c.5074A>C (p.Lys1692Gln)
c.5065A>C (p.Lys1689Gln)
c.5026A>C (p.Lys1676Gln)
c.4972A>C (p.Lys1658Gln)
c.4876A>C (p.Lys1626Gln)
c.4846A>C (p.Lys1616Gln)
c.4771A>C (p.Lys1591Gln)
c.4669A>C (p.Lys1557Gln)
c.4300A>C (p.Lys1434Gln)
5g.112840743A>GCA16032584APCc.5203A>G (p.Lys1735Glu)
c.*5155A>G (n.*5155A>G)
c.5095A>G (p.Lys1699Glu)
c.5149A>G (p.Lys1717Glu)
c.*4471A>G (n.*4471A>G)
c.230+11771A>G
c.5179A>G (p.Lys1727Glu)
c.5074A>G (p.Lys1692Glu)
c.5065A>G (p.Lys1689Glu)
c.5026A>G (p.Lys1676Glu)
c.4972A>G (p.Lys1658Glu)
c.4876A>G (p.Lys1626Glu)
c.4846A>G (p.Lys1616Glu)
c.4771A>G (p.Lys1591Glu)
c.4669A>G (p.Lys1557Glu)
c.4300A>G (p.Lys1434Glu)
 dbSNP
5g.112840743A>TCA16032585APCc.5203A>T (p.Lys1735Ter)
c.*5155A>T (n.*5155A>T)
c.5095A>T (p.Lys1699Ter)
c.5149A>T (p.Lys1717Ter)
c.*4471A>T (n.*4471A>T)
c.230+11771A>T
c.5179A>T (p.Lys1727Ter)
c.5074A>T (p.Lys1692Ter)
c.5065A>T (p.Lys1689Ter)
c.5026A>T (p.Lys1676Ter)
c.4972A>T (p.Lys1658Ter)
c.4876A>T (p.Lys1626Ter)
c.4846A>T (p.Lys1616Ter)
c.4771A>T (p.Lys1591Ter)
c.4669A>T (p.Lys1557Ter)
c.4300A>T (p.Lys1434Ter)
 dbSNP
5g.112840744A=CA1573474141APCc.5204A= (p.Lys1735=)
c.*5156A= (n.*5156A=)
c.5096A= (p.Lys1699=)
c.5150A= (p.Lys1717=)
c.*4472A= (n.*4472A=)
c.230+11772A=
c.5180A= (p.Lys1727=)
c.5075A= (p.Lys1692=)
c.5066A= (p.Lys1689=)
c.5027A= (p.Lys1676=)
c.4973A= (p.Lys1658=)
c.4877A= (p.Lys1626=)
c.4847A= (p.Lys1616=)
c.4772A= (p.Lys1591=)
c.4670A= (p.Lys1557=)
c.4301A= (p.Lys1434=)
5g.112840744A>CCA16032586APCc.5204A>C (p.Lys1735Thr)
c.*5156A>C (n.*5156A>C)
c.5096A>C (p.Lys1699Thr)
c.5150A>C (p.Lys1717Thr)
c.*4472A>C (n.*4472A>C)
c.230+11772A>C
c.5180A>C (p.Lys1727Thr)
c.5075A>C (p.Lys1692Thr)
c.5066A>C (p.Lys1689Thr)
c.5027A>C (p.Lys1676Thr)
c.4973A>C (p.Lys1658Thr)
c.4877A>C (p.Lys1626Thr)
c.4847A>C (p.Lys1616Thr)
c.4772A>C (p.Lys1591Thr)
c.4670A>C (p.Lys1557Thr)
c.4301A>C (p.Lys1434Thr)
5g.112840744A>GCA16032587APCc.5204A>G (p.Lys1735Arg)
c.*5156A>G (n.*5156A>G)
c.5096A>G (p.Lys1699Arg)
c.5150A>G (p.Lys1717Arg)
c.*4472A>G (n.*4472A>G)
c.230+11772A>G
c.5180A>G (p.Lys1727Arg)
c.5075A>G (p.Lys1692Arg)
c.5066A>G (p.Lys1689Arg)
c.5027A>G (p.Lys1676Arg)
c.4973A>G (p.Lys1658Arg)
c.4877A>G (p.Lys1626Arg)
c.4847A>G (p.Lys1616Arg)
c.4772A>G (p.Lys1591Arg)
c.4670A>G (p.Lys1557Arg)
c.4301A>G (p.Lys1434Arg)
 dbSNP
5g.112840744A>TCA16032588APCc.5204A>T (p.Lys1735Ile)
c.*5156A>T (n.*5156A>T)
c.5096A>T (p.Lys1699Ile)
c.5150A>T (p.Lys1717Ile)
c.*4472A>T (n.*4472A>T)
c.230+11772A>T
c.5180A>T (p.Lys1727Ile)
c.5075A>T (p.Lys1692Ile)
c.5066A>T (p.Lys1689Ile)
c.5027A>T (p.Lys1676Ile)
c.4973A>T (p.Lys1658Ile)
c.4877A>T (p.Lys1626Ile)
c.4847A>T (p.Lys1616Ile)
c.4772A>T (p.Lys1591Ile)
c.4670A>T (p.Lys1557Ile)
c.4301A>T (p.Lys1434Ile)
 ClinVar dbSNP gnomAD v4
5g.112840744_112840747delinsAAGCCA1573474145APCc.5204_5207delinsAAGC (p.Lys1735=)
c.*5156_*5159delinsAAGC (n.*5156_*5159delinsAAGC)
c.5096_5099delinsAAGC (p.Lys1699=)
c.5150_5153delinsAAGC (p.Lys1717=)
c.*4472_*4475delinsAAGC (n.*4472_*4475delinsAAGC)
c.230+11772_230+11775delinsAAGC
c.5180_5183delinsAAGC (p.Lys1727=)
c.5075_5078delinsAAGC (p.Lys1692=)
c.5066_5069delinsAAGC (p.Lys1689=)
c.5027_5030delinsAAGC (p.Lys1676=)
c.4973_4976delinsAAGC (p.Lys1658=)
c.4877_4880delinsAAGC (p.Lys1626=)
c.4847_4850delinsAAGC (p.Lys1616=)
c.4772_4775delinsAAGC (p.Lys1591=)
c.4670_4673delinsAAGC (p.Lys1557=)
c.4301_4304delinsAAGC (p.Lys1434=)
5g.112840745A=CA1573474155APCc.5205A= (p.Lys1735=)
c.*5157A= (n.*5157A=)
c.5097A= (p.Lys1699=)
c.5151A= (p.Lys1717=)
c.*4473A= (n.*4473A=)
c.230+11773A=
c.5181A= (p.Lys1727=)
c.5076A= (p.Lys1692=)
c.5067A= (p.Lys1689=)
c.5028A= (p.Lys1676=)
c.4974A= (p.Lys1658=)
c.4878A= (p.Lys1626=)
c.4848A= (p.Lys1616=)
c.4773A= (p.Lys1591=)
c.4671A= (p.Lys1557=)
c.4302A= (p.Lys1434=)
5g.112840745A>CCA16032589APCc.5205A>C (p.Lys1735Asn)
c.*5157A>C (n.*5157A>C)
c.5097A>C (p.Lys1699Asn)
c.5151A>C (p.Lys1717Asn)
c.*4473A>C (n.*4473A>C)
c.230+11773A>C
c.5181A>C (p.Lys1727Asn)
c.5076A>C (p.Lys1692Asn)
c.5067A>C (p.Lys1689Asn)
c.5028A>C (p.Lys1676Asn)
c.4974A>C (p.Lys1658Asn)
c.4878A>C (p.Lys1626Asn)
c.4848A>C (p.Lys1616Asn)
c.4773A>C (p.Lys1591Asn)
c.4671A>C (p.Lys1557Asn)
c.4302A>C (p.Lys1434Asn)
 ClinVar dbSNP
5g.112840745A>GCA446209609APCc.5205A>G (p.Lys1735=)
c.*5157A>G (n.*5157A>G)
c.5097A>G (p.Lys1699=)
c.5151A>G (p.Lys1717=)
c.*4473A>G (n.*4473A>G)
c.230+11773A>G
c.5181A>G (p.Lys1727=)
c.5076A>G (p.Lys1692=)
c.5067A>G (p.Lys1689=)
c.5028A>G (p.Lys1676=)
c.4974A>G (p.Lys1658=)
c.4878A>G (p.Lys1626=)
c.4848A>G (p.Lys1616=)
c.4773A>G (p.Lys1591=)
c.4671A>G (p.Lys1557=)
c.4302A>G (p.Lys1434=)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112840745A>TCA16032590APCc.5205A>T (p.Lys1735Asn)
c.*5157A>T (n.*5157A>T)
c.5097A>T (p.Lys1699Asn)
c.5151A>T (p.Lys1717Asn)
c.*4473A>T (n.*4473A>T)
c.230+11773A>T
c.5181A>T (p.Lys1727Asn)
c.5076A>T (p.Lys1692Asn)
c.5067A>T (p.Lys1689Asn)
c.5028A>T (p.Lys1676Asn)
c.4974A>T (p.Lys1658Asn)
c.4878A>T (p.Lys1626Asn)
c.4848A>T (p.Lys1616Asn)
c.4773A>T (p.Lys1591Asn)
c.4671A>T (p.Lys1557Asn)
c.4302A>T (p.Lys1434Asn)
 dbSNP
5g.112840745_112840747delinsAGCCA1573474157APCc.5205_5207delinsAGC (p.Lys1735=)
c.*5157_*5159delinsAGC (n.*5157_*5159delinsAGC)
c.5097_5099delinsAGC (p.Lys1699=)
c.5151_5153delinsAGC (p.Lys1717=)
c.*4473_*4475delinsAGC (n.*4473_*4475delinsAGC)
c.230+11773_230+11775delinsAGC
c.5181_5183delinsAGC (p.Lys1727=)
c.5076_5078delinsAGC (p.Lys1692=)
c.5067_5069delinsAGC (p.Lys1689=)
c.5028_5030delinsAGC (p.Lys1676=)
c.4974_4976delinsAGC (p.Lys1658=)
c.4878_4880delinsAGC (p.Lys1626=)
c.4848_4850delinsAGC (p.Lys1616=)
c.4773_4775delinsAGC (p.Lys1591=)
c.4671_4673delinsAGC (p.Lys1557=)
c.4302_4304delinsAGC (p.Lys1434=)
5g.112840747_112840749delCA915943498APCc.5207_5209del (p.Ala1736del)
c.*5159_*5161del (n.*5159_*5161del)
c.5099_5101del (p.Ala1700del)
c.5153_5155del (p.Ala1718del)
c.*4475_*4477del (n.*4475_*4477del)
c.230+11775_230+11777del
c.5183_5185del (p.Ala1728del)
c.5078_5080del (p.Ala1693del)
c.5069_5071del (p.Ala1690del)
c.5030_5032del (p.Ala1677del)
c.4976_4978del (p.Ala1659del)
c.4880_4882del (p.Ala1627del)
c.4850_4852del (p.Ala1617del)
c.4775_4777del (p.Ala1592del)
c.4673_4675del (p.Ala1558del)
c.4304_4306del (p.Ala1435del)
 ClinVar dbSNP
5g.112840745_112840746insATTCA009893APCc.5205_5206insATT (p.Lys1735_Ala1736insIle)
c.*5157_*5158insATT (n.*5157_*5158insATT)
c.5097_5098insATT (p.Lys1699_Ala1700insIle)
c.5151_5152insATT (p.Lys1717_Ala1718insIle)
c.*4473_*4474insATT (n.*4473_*4474insATT)
c.230+11773_230+11774insATT
c.5181_5182insATT (p.Lys1727_Ala1728insIle)
c.5076_5077insATT (p.Lys1692_Ala1693insIle)
c.5067_5068insATT (p.Lys1689_Ala1690insIle)
c.5028_5029insATT (p.Lys1676_Ala1677insIle)
c.4974_4975insATT (p.Lys1658_Ala1659insIle)
c.4878_4879insATT (p.Lys1626_Ala1627insIle)
c.4848_4849insATT (p.Lys1616_Ala1617insIle)
c.4773_4774insATT (p.Lys1591_Ala1592insIle)
c.4671_4672insATT (p.Lys1557_Ala1558insIle)
c.4302_4303insATT (p.Lys1434_Ala1435insIle)
 ClinVar dbSNP gnomAD v4
5g.112840746G>ACA16032591APCc.5206G>A (p.Ala1736Thr)
c.*5158G>A (n.*5158G>A)
c.5098G>A (p.Ala1700Thr)
c.5152G>A (p.Ala1718Thr)
c.*4474G>A (n.*4474G>A)
c.230+11774G>A
c.5182G>A (p.Ala1728Thr)
c.5077G>A (p.Ala1693Thr)
c.5068G>A (p.Ala1690Thr)
c.5029G>A (p.Ala1677Thr)
c.4975G>A (p.Ala1659Thr)
c.4879G>A (p.Ala1627Thr)
c.4849G>A (p.Ala1617Thr)
c.4774G>A (p.Ala1592Thr)
c.4672G>A (p.Ala1558Thr)
c.4303G>A (p.Ala1435Thr)
 ClinVar dbSNP gnomAD v4
5g.112840746G>CCA16032592APCc.5206G>C (p.Ala1736Pro)
c.*5158G>C (n.*5158G>C)
c.5098G>C (p.Ala1700Pro)
c.5152G>C (p.Ala1718Pro)
c.*4474G>C (n.*4474G>C)
c.230+11774G>C
c.5182G>C (p.Ala1728Pro)
c.5077G>C (p.Ala1693Pro)
c.5068G>C (p.Ala1690Pro)
c.5029G>C (p.Ala1677Pro)
c.4975G>C (p.Ala1659Pro)
c.4879G>C (p.Ala1627Pro)
c.4849G>C (p.Ala1617Pro)
c.4774G>C (p.Ala1592Pro)
c.4672G>C (p.Ala1558Pro)
c.4303G>C (p.Ala1435Pro)
 dbSNP
5g.112840746G>TCA16032593APCc.5206G>T (p.Ala1736Ser)
c.*5158G>T (n.*5158G>T)
c.5098G>T (p.Ala1700Ser)
c.5152G>T (p.Ala1718Ser)
c.*4474G>T (n.*4474G>T)
c.230+11774G>T
c.5182G>T (p.Ala1728Ser)
c.5077G>T (p.Ala1693Ser)
c.5068G>T (p.Ala1690Ser)
c.5029G>T (p.Ala1677Ser)
c.4975G>T (p.Ala1659Ser)
c.4879G>T (p.Ala1627Ser)
c.4849G>T (p.Ala1617Ser)
c.4774G>T (p.Ala1592Ser)
c.4672G>T (p.Ala1558Ser)
c.4303G>T (p.Ala1435Ser)
 ClinVar dbSNP
5g.112840746_112840747delinsACA913189679APCc.5206_5207delinsA (p.Ala1736LysfsTer26)
c.*5158_*5159delinsA (n.*5158_*5159delinsA)
c.5098_5099delinsA (p.Ala1700LysfsTer26)
c.5152_5153delinsA (p.Ala1718LysfsTer26)
c.*4474_*4475delinsA (n.*4474_*4475delinsA)
c.230+11774_230+11775delinsA
c.5182_5183delinsA (p.Ala1728LysfsTer26)
c.5077_5078delinsA (p.Ala1693LysfsTer26)
c.5068_5069delinsA (p.Ala1690LysfsTer26)
c.5029_5030delinsA (p.Ala1677LysfsTer26)
c.4975_4976delinsA (p.Ala1659LysfsTer26)
c.4879_4880delinsA (p.Ala1627LysfsTer26)
c.4849_4850delinsA (p.Ala1617LysfsTer26)
c.4774_4775delinsA (p.Ala1592LysfsTer26)
c.4672_4673delinsA (p.Ala1558LysfsTer26)
c.4303_4304delinsA (p.Ala1435LysfsTer26)
 ClinVar dbSNP
5g.112840746_112840749dupCA2580072620APCc.5206_5209dup (p.Glu1737GlyfsTer5)
c.*5158_*5161dup (n.*5158_*5161dup)
c.5098_5101dup (p.Glu1701GlyfsTer5)
c.5152_5155dup (p.Glu1719GlyfsTer5)
c.*4474_*4477dup (n.*4474_*4477dup)
c.230+11774_230+11777dup
c.5182_5185dup (p.Glu1729GlyfsTer5)
c.5077_5080dup (p.Glu1694GlyfsTer5)
c.5068_5071dup (p.Glu1691GlyfsTer5)
c.5029_5032dup (p.Glu1678GlyfsTer5)
c.4975_4978dup (p.Glu1660GlyfsTer5)
c.4879_4882dup (p.Glu1628GlyfsTer5)
c.4849_4852dup (p.Glu1618GlyfsTer5)
c.4774_4777dup (p.Glu1593GlyfsTer5)
c.4672_4675dup (p.Glu1559GlyfsTer5)
c.4303_4306dup (p.Glu1436GlyfsTer5)
 ClinVar
5g.112840747C>ACA16032594APCc.5207C>A (p.Ala1736Glu)
c.*5159C>A (n.*5159C>A)
c.5099C>A (p.Ala1700Glu)
c.5153C>A (p.Ala1718Glu)
c.*4475C>A (n.*4475C>A)
c.230+11775C>A
c.5183C>A (p.Ala1728Glu)
c.5078C>A (p.Ala1693Glu)
c.5069C>A (p.Ala1690Glu)
c.5030C>A (p.Ala1677Glu)
c.4976C>A (p.Ala1659Glu)
c.4880C>A (p.Ala1627Glu)
c.4850C>A (p.Ala1617Glu)
c.4775C>A (p.Ala1592Glu)
c.4673C>A (p.Ala1558Glu)
c.4304C>A (p.Ala1435Glu)
 dbSNP
5g.112840747C=CA1573474177APCc.5207C= (p.Ala1736=)
c.*5159C= (n.*5159C=)
c.5099C= (p.Ala1700=)
c.5153C= (p.Ala1718=)
c.*4475C= (n.*4475C=)
c.230+11775C=
c.5183C= (p.Ala1728=)
c.5078C= (p.Ala1693=)
c.5069C= (p.Ala1690=)
c.5030C= (p.Ala1677=)
c.4976C= (p.Ala1659=)
c.4880C= (p.Ala1627=)
c.4850C= (p.Ala1617=)
c.4775C= (p.Ala1592=)
c.4673C= (p.Ala1558=)
c.4304C= (p.Ala1435=)
5g.112840747C>GCA16032595APCc.5207C>G (p.Ala1736Gly)
c.*5159C>G (n.*5159C>G)
c.5099C>G (p.Ala1700Gly)
c.5153C>G (p.Ala1718Gly)
c.*4475C>G (n.*4475C>G)
c.230+11775C>G
c.5183C>G (p.Ala1728Gly)
c.5078C>G (p.Ala1693Gly)
c.5069C>G (p.Ala1690Gly)
c.5030C>G (p.Ala1677Gly)
c.4976C>G (p.Ala1659Gly)
c.4880C>G (p.Ala1627Gly)
c.4850C>G (p.Ala1617Gly)
c.4775C>G (p.Ala1592Gly)
c.4673C>G (p.Ala1558Gly)
c.4304C>G (p.Ala1435Gly)
 dbSNP
5g.112840747C>TCA16032596APCc.5207C>T (p.Ala1736Val)
c.*5159C>T (n.*5159C>T)
c.5099C>T (p.Ala1700Val)
c.5153C>T (p.Ala1718Val)
c.*4475C>T (n.*4475C>T)
c.230+11775C>T
c.5183C>T (p.Ala1728Val)
c.5078C>T (p.Ala1693Val)
c.5069C>T (p.Ala1690Val)
c.5030C>T (p.Ala1677Val)
c.4976C>T (p.Ala1659Val)
c.4880C>T (p.Ala1627Val)
c.4850C>T (p.Ala1617Val)
c.4775C>T (p.Ala1592Val)
c.4673C>T (p.Ala1558Val)
c.4304C>T (p.Ala1435Val)
 ClinVar dbSNP
5g.112840748A=CA1573474183APCc.5208A= (p.Ala1736=)
c.*5160A= (n.*5160A=)
c.5100A= (p.Ala1700=)
c.5154A= (p.Ala1718=)
c.*4476A= (n.*4476A=)
c.230+11776A=
c.5184A= (p.Ala1728=)
c.5079A= (p.Ala1693=)
c.5070A= (p.Ala1690=)
c.5031A= (p.Ala1677=)
c.4977A= (p.Ala1659=)
c.4881A= (p.Ala1627=)
c.4851A= (p.Ala1617=)
c.4776A= (p.Ala1592=)
c.4674A= (p.Ala1558=)
c.4305A= (p.Ala1435=)
5g.112840748A>CCA446209610APCc.5208A>C (p.Ala1736=)
c.*5160A>C (n.*5160A>C)
c.5100A>C (p.Ala1700=)
c.5154A>C (p.Ala1718=)
c.*4476A>C (n.*4476A>C)
c.230+11776A>C
c.5184A>C (p.Ala1728=)
c.5079A>C (p.Ala1693=)
c.5070A>C (p.Ala1690=)
c.5031A>C (p.Ala1677=)
c.4977A>C (p.Ala1659=)
c.4881A>C (p.Ala1627=)
c.4851A>C (p.Ala1617=)
c.4776A>C (p.Ala1592=)
c.4674A>C (p.Ala1558=)
c.4305A>C (p.Ala1435=)
5g.112840748A>GCA446209611APCc.5208A>G (p.Ala1736=)
c.*5160A>G (n.*5160A>G)
c.5100A>G (p.Ala1700=)
c.5154A>G (p.Ala1718=)
c.*4476A>G (n.*4476A>G)
c.230+11776A>G
c.5184A>G (p.Ala1728=)
c.5079A>G (p.Ala1693=)
c.5070A>G (p.Ala1690=)
c.5031A>G (p.Ala1677=)
c.4977A>G (p.Ala1659=)
c.4881A>G (p.Ala1627=)
c.4851A>G (p.Ala1617=)
c.4776A>G (p.Ala1592=)
c.4674A>G (p.Ala1558=)
c.4305A>G (p.Ala1435=)
 ClinVar dbSNP
5g.112840748A>TCA446209612APCc.5208A>T (p.Ala1736=)
c.*5160A>T (n.*5160A>T)
c.5100A>T (p.Ala1700=)
c.5154A>T (p.Ala1718=)
c.*4476A>T (n.*4476A>T)
c.230+11776A>T
c.5184A>T (p.Ala1728=)
c.5079A>T (p.Ala1693=)
c.5070A>T (p.Ala1690=)
c.5031A>T (p.Ala1677=)
c.4977A>T (p.Ala1659=)
c.4881A>T (p.Ala1627=)
c.4851A>T (p.Ala1617=)
c.4776A>T (p.Ala1592=)
c.4674A>T (p.Ala1558=)
c.4305A>T (p.Ala1435=)
 dbSNP
5g.112840748dupCA2573138672APCc.5208dup (p.Glu1737ArgfsTer4)
c.*5160dup (n.*5160dup)
c.5100dup (p.Glu1701ArgfsTer4)
c.5154dup (p.Glu1719ArgfsTer4)
c.*4476dup (n.*4476dup)
c.230+11776dup
c.5184dup (p.Glu1729ArgfsTer4)
c.5079dup (p.Glu1694ArgfsTer4)
c.5070dup (p.Glu1691ArgfsTer4)
c.5031dup (p.Glu1678ArgfsTer4)
c.4977dup (p.Glu1660ArgfsTer4)
c.4881dup (p.Glu1628ArgfsTer4)
c.4851dup (p.Glu1618ArgfsTer4)
c.4776dup (p.Glu1593ArgfsTer4)
c.4674dup (p.Glu1559ArgfsTer4)
c.4305dup (p.Glu1436ArgfsTer4)
 ClinVar dbSNP
5g.112840749G>ACA16032597APCc.5209G>A (p.Glu1737Lys)
c.*5161G>A (n.*5161G>A)
c.5101G>A (p.Glu1701Lys)
c.5155G>A (p.Glu1719Lys)
c.*4477G>A (n.*4477G>A)
c.230+11777G>A
c.5185G>A (p.Glu1729Lys)
c.5080G>A (p.Glu1694Lys)
c.5071G>A (p.Glu1691Lys)
c.5032G>A (p.Glu1678Lys)
c.4978G>A (p.Glu1660Lys)
c.4882G>A (p.Glu1628Lys)
c.4852G>A (p.Glu1618Lys)
c.4777G>A (p.Glu1593Lys)
c.4675G>A (p.Glu1559Lys)
c.4306G>A (p.Glu1436Lys)
 dbSNP
5g.112840749G>CCA16032598APCc.5209G>C (p.Glu1737Gln)
c.*5161G>C (n.*5161G>C)
c.5101G>C (p.Glu1701Gln)
c.5155G>C (p.Glu1719Gln)
c.*4477G>C (n.*4477G>C)
c.230+11777G>C
c.5185G>C (p.Glu1729Gln)
c.5080G>C (p.Glu1694Gln)
c.5071G>C (p.Glu1691Gln)
c.5032G>C (p.Glu1678Gln)
c.4978G>C (p.Glu1660Gln)
c.4882G>C (p.Glu1628Gln)
c.4852G>C (p.Glu1618Gln)
c.4777G>C (p.Glu1593Gln)
c.4675G>C (p.Glu1559Gln)
c.4306G>C (p.Glu1436Gln)
 dbSNP
5g.112840749G>TCA16032599APCc.5209G>T (p.Glu1737Ter)
c.*5161G>T (n.*5161G>T)
c.5101G>T (p.Glu1701Ter)
c.5155G>T (p.Glu1719Ter)
c.*4477G>T (n.*4477G>T)
c.230+11777G>T
c.5185G>T (p.Glu1729Ter)
c.5080G>T (p.Glu1694Ter)
c.5071G>T (p.Glu1691Ter)
c.5032G>T (p.Glu1678Ter)
c.4978G>T (p.Glu1660Ter)
c.4882G>T (p.Glu1628Ter)
c.4852G>T (p.Glu1618Ter)
c.4777G>T (p.Glu1593Ter)
c.4675G>T (p.Glu1559Ter)
c.4306G>T (p.Glu1436Ter)
 ClinVar dbSNP COSMIC
5g.112840750A=CA1573474193APCc.5210A= (p.Glu1737=)
c.*5162A= (n.*5162A=)
c.5102A= (p.Glu1701=)
c.5156A= (p.Glu1719=)
c.*4478A= (n.*4478A=)
c.230+11778A=
c.5186A= (p.Glu1729=)
c.5081A= (p.Glu1694=)
c.5072A= (p.Glu1691=)
c.5033A= (p.Glu1678=)
c.4979A= (p.Glu1660=)
c.4883A= (p.Glu1628=)
c.4853A= (p.Glu1618=)
c.4778A= (p.Glu1593=)
c.4676A= (p.Glu1559=)
c.4307A= (p.Glu1436=)
5g.112840750A>CCA16032600APCc.5210A>C (p.Glu1737Ala)
c.*5162A>C (n.*5162A>C)
c.5102A>C (p.Glu1701Ala)
c.5156A>C (p.Glu1719Ala)
c.*4478A>C (n.*4478A>C)
c.230+11778A>C
c.5186A>C (p.Glu1729Ala)
c.5081A>C (p.Glu1694Ala)
c.5072A>C (p.Glu1691Ala)
c.5033A>C (p.Glu1678Ala)
c.4979A>C (p.Glu1660Ala)
c.4883A>C (p.Glu1628Ala)
c.4853A>C (p.Glu1618Ala)
c.4778A>C (p.Glu1593Ala)
c.4676A>C (p.Glu1559Ala)
c.4307A>C (p.Glu1436Ala)
 ClinVar dbSNP
5g.112840750A>GCA16032601APCc.5210A>G (p.Glu1737Gly)
c.*5162A>G (n.*5162A>G)
c.5102A>G (p.Glu1701Gly)
c.5156A>G (p.Glu1719Gly)
c.*4478A>G (n.*4478A>G)
c.230+11778A>G
c.5186A>G (p.Glu1729Gly)
c.5081A>G (p.Glu1694Gly)
c.5072A>G (p.Glu1691Gly)
c.5033A>G (p.Glu1678Gly)
c.4979A>G (p.Glu1660Gly)
c.4883A>G (p.Glu1628Gly)
c.4853A>G (p.Glu1618Gly)
c.4778A>G (p.Glu1593Gly)
c.4676A>G (p.Glu1559Gly)
c.4307A>G (p.Glu1436Gly)
 ClinVar dbSNP
5g.112840750A>TCA16032602APCc.5210A>T (p.Glu1737Val)
c.*5162A>T (n.*5162A>T)
c.5102A>T (p.Glu1701Val)
c.5156A>T (p.Glu1719Val)
c.*4478A>T (n.*4478A>T)
c.230+11778A>T
c.5186A>T (p.Glu1729Val)
c.5081A>T (p.Glu1694Val)
c.5072A>T (p.Glu1691Val)
c.5033A>T (p.Glu1678Val)
c.4979A>T (p.Glu1660Val)
c.4883A>T (p.Glu1628Val)
c.4853A>T (p.Glu1618Val)
c.4778A>T (p.Glu1593Val)
c.4676A>T (p.Glu1559Val)
c.4307A>T (p.Glu1436Val)
 dbSNP
5g.112840750_112840751delinsAGCA1573474191APCc.5210_5211delinsAG (p.Glu1737=)
c.*5162_*5163delinsAG (n.*5162_*5163delinsAG)
c.5102_5103delinsAG (p.Glu1701=)
c.5156_5157delinsAG (p.Glu1719=)
c.*4478_*4479delinsAG (n.*4478_*4479delinsAG)
c.230+11778_230+11779delinsAG
c.5186_5187delinsAG (p.Glu1729=)
c.5081_5082delinsAG (p.Glu1694=)
c.5072_5073delinsAG (p.Glu1691=)
c.5033_5034delinsAG (p.Glu1678=)
c.4979_4980delinsAG (p.Glu1660=)
c.4883_4884delinsAG (p.Glu1628=)
c.4853_4854delinsAG (p.Glu1618=)
c.4778_4779delinsAG (p.Glu1593=)
c.4676_4677delinsAG (p.Glu1559=)
c.4307_4308delinsAG (p.Glu1436=)
5g.112840751G>ACA446209613APCc.5211G>A (p.Glu1737=)
c.*5163G>A (n.*5163G>A)
c.5103G>A (p.Glu1701=)
c.5157G>A (p.Glu1719=)
c.*4479G>A (n.*4479G>A)
c.230+11779G>A
c.5187G>A (p.Glu1729=)
c.5082G>A (p.Glu1694=)
c.5073G>A (p.Glu1691=)
c.5034G>A (p.Glu1678=)
c.4980G>A (p.Glu1660=)
c.4884G>A (p.Glu1628=)
c.4854G>A (p.Glu1618=)
c.4779G>A (p.Glu1593=)
c.4677G>A (p.Glu1559=)
c.4308G>A (p.Glu1436=)
 ClinVar dbSNP
5g.112840751G>CCA16032603APCc.5211G>C (p.Glu1737Asp)
c.*5163G>C (n.*5163G>C)
c.5103G>C (p.Glu1701Asp)
c.5157G>C (p.Glu1719Asp)
c.*4479G>C (n.*4479G>C)
c.230+11779G>C
c.5187G>C (p.Glu1729Asp)
c.5082G>C (p.Glu1694Asp)
c.5073G>C (p.Glu1691Asp)
c.5034G>C (p.Glu1678Asp)
c.4980G>C (p.Glu1660Asp)
c.4884G>C (p.Glu1628Asp)
c.4854G>C (p.Glu1618Asp)
c.4779G>C (p.Glu1593Asp)
c.4677G>C (p.Glu1559Asp)
c.4308G>C (p.Glu1436Asp)
 ClinVar dbSNP
5g.112840751G=CA1573474220APCc.5211G= (p.Glu1737=)
c.*5163G= (n.*5163G=)
c.5103G= (p.Glu1701=)
c.5157G= (p.Glu1719=)
c.*4479G= (n.*4479G=)
c.230+11779G=
c.5187G= (p.Glu1729=)
c.5082G= (p.Glu1694=)
c.5073G= (p.Glu1691=)
c.5034G= (p.Glu1678=)
c.4980G= (p.Glu1660=)
c.4884G= (p.Glu1628=)
c.4854G= (p.Glu1618=)
c.4779G= (p.Glu1593=)
c.4677G= (p.Glu1559=)
c.4308G= (p.Glu1436=)
5g.112840751G>TCA16032604APCc.5211G>T (p.Glu1737Asp)
c.*5163G>T (n.*5163G>T)
c.5103G>T (p.Glu1701Asp)
c.5157G>T (p.Glu1719Asp)
c.*4479G>T (n.*4479G>T)
c.230+11779G>T
c.5187G>T (p.Glu1729Asp)
c.5082G>T (p.Glu1694Asp)
c.5073G>T (p.Glu1691Asp)
c.5034G>T (p.Glu1678Asp)
c.4980G>T (p.Glu1660Asp)
c.4884G>T (p.Glu1628Asp)
c.4854G>T (p.Glu1618Asp)
c.4779G>T (p.Glu1593Asp)
c.4677G>T (p.Glu1559Asp)
c.4308G>T (p.Glu1436Asp)
 dbSNP
5g.112840752delCA10578396APCc.5212del (p.Glu1738LysfsTer24)
c.*5164del (n.*5164del)
c.5104del (p.Glu1702LysfsTer24)
c.5158del (p.Glu1720LysfsTer24)
c.*4480del (n.*4480del)
c.230+11780del
c.5188del (p.Glu1730LysfsTer24)
c.5083del (p.Glu1695LysfsTer24)
c.5074del (p.Glu1692LysfsTer24)
c.5035del (p.Glu1679LysfsTer24)
c.4981del (p.Glu1661LysfsTer24)
c.4885del (p.Glu1629LysfsTer24)
c.4855del (p.Glu1619LysfsTer24)
c.4780del (p.Glu1594LysfsTer24)
c.4678del (p.Glu1560LysfsTer24)
c.4309del (p.Glu1437LysfsTer24)
 ClinVar dbSNP
5g.112840752G>ACA040788APCc.5212G>A (p.Glu1738Lys)
c.*5164G>A (n.*5164G>A)
c.5104G>A (p.Glu1702Lys)
c.5158G>A (p.Glu1720Lys)
c.*4480G>A (n.*4480G>A)
c.230+11780G>A
c.5188G>A (p.Glu1730Lys)
c.5083G>A (p.Glu1695Lys)
c.5074G>A (p.Glu1692Lys)
c.5035G>A (p.Glu1679Lys)
c.4981G>A (p.Glu1661Lys)
c.4885G>A (p.Glu1629Lys)
c.4855G>A (p.Glu1619Lys)
c.4780G>A (p.Glu1594Lys)
c.4678G>A (p.Glu1560Lys)
c.4309G>A (p.Glu1437Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840752G>CCA16032605APCc.5212G>C (p.Glu1738Gln)
c.*5164G>C (n.*5164G>C)
c.5104G>C (p.Glu1702Gln)
c.5158G>C (p.Glu1720Gln)
c.*4480G>C (n.*4480G>C)
c.230+11780G>C
c.5188G>C (p.Glu1730Gln)
c.5083G>C (p.Glu1695Gln)
c.5074G>C (p.Glu1692Gln)
c.5035G>C (p.Glu1679Gln)
c.4981G>C (p.Glu1661Gln)
c.4885G>C (p.Glu1629Gln)
c.4855G>C (p.Glu1619Gln)
c.4780G>C (p.Glu1594Gln)
c.4678G>C (p.Glu1560Gln)
c.4309G>C (p.Glu1437Gln)
 dbSNP
5g.112840752G=CA1573474239APCc.5212G= (p.Glu1738=)
c.*5164G= (n.*5164G=)
c.5104G= (p.Glu1702=)
c.5158G= (p.Glu1720=)
c.*4480G= (n.*4480G=)
c.230+11780G=
c.5188G= (p.Glu1730=)
c.5083G= (p.Glu1695=)
c.5074G= (p.Glu1692=)
c.5035G= (p.Glu1679=)
c.4981G= (p.Glu1661=)
c.4885G= (p.Glu1629=)
c.4855G= (p.Glu1619=)
c.4780G= (p.Glu1594=)
c.4678G= (p.Glu1560=)
c.4309G= (p.Glu1437=)
5g.112840752G>TCA16032606APCc.5212G>T (p.Glu1738Ter)
c.*5164G>T (n.*5164G>T)
c.5104G>T (p.Glu1702Ter)
c.5158G>T (p.Glu1720Ter)
c.*4480G>T (n.*4480G>T)
c.230+11780G>T
c.5188G>T (p.Glu1730Ter)
c.5083G>T (p.Glu1695Ter)
c.5074G>T (p.Glu1692Ter)
c.5035G>T (p.Glu1679Ter)
c.4981G>T (p.Glu1661Ter)
c.4885G>T (p.Glu1629Ter)
c.4855G>T (p.Glu1619Ter)
c.4780G>T (p.Glu1594Ter)
c.4678G>T (p.Glu1560Ter)
c.4309G>T (p.Glu1437Ter)
 dbSNP
5g.112840753A>CCA16032607APCc.5213A>C (p.Glu1738Ala)
c.*5165A>C (n.*5165A>C)
c.5105A>C (p.Glu1702Ala)
c.5159A>C (p.Glu1720Ala)
c.*4481A>C (n.*4481A>C)
c.230+11781A>C
c.5189A>C (p.Glu1730Ala)
c.5084A>C (p.Glu1695Ala)
c.5075A>C (p.Glu1692Ala)
c.5036A>C (p.Glu1679Ala)
c.4982A>C (p.Glu1661Ala)
c.4886A>C (p.Glu1629Ala)
c.4856A>C (p.Glu1619Ala)
c.4781A>C (p.Glu1594Ala)
c.4679A>C (p.Glu1560Ala)
c.4310A>C (p.Glu1437Ala)
5g.112840753A>GCA16032608APCc.5213A>G (p.Glu1738Gly)
c.*5165A>G (n.*5165A>G)
c.5105A>G (p.Glu1702Gly)
c.5159A>G (p.Glu1720Gly)
c.*4481A>G (n.*4481A>G)
c.230+11781A>G
c.5189A>G (p.Glu1730Gly)
c.5084A>G (p.Glu1695Gly)
c.5075A>G (p.Glu1692Gly)
c.5036A>G (p.Glu1679Gly)
c.4982A>G (p.Glu1661Gly)
c.4886A>G (p.Glu1629Gly)
c.4856A>G (p.Glu1619Gly)
c.4781A>G (p.Glu1594Gly)
c.4679A>G (p.Glu1560Gly)
c.4310A>G (p.Glu1437Gly)
 dbSNP
5g.112840753A>TCA16032609APCc.5213A>T (p.Glu1738Val)
c.*5165A>T (n.*5165A>T)
c.5105A>T (p.Glu1702Val)
c.5159A>T (p.Glu1720Val)
c.*4481A>T (n.*4481A>T)
c.230+11781A>T
c.5189A>T (p.Glu1730Val)
c.5084A>T (p.Glu1695Val)
c.5075A>T (p.Glu1692Val)
c.5036A>T (p.Glu1679Val)
c.4982A>T (p.Glu1661Val)
c.4886A>T (p.Glu1629Val)
c.4856A>T (p.Glu1619Val)
c.4781A>T (p.Glu1594Val)
c.4679A>T (p.Glu1560Val)
c.4310A>T (p.Glu1437Val)
 dbSNP
5g.112840754A=CA1573474246APCc.5214A= (p.Glu1738=)
c.*5166A= (n.*5166A=)
c.5106A= (p.Glu1702=)
c.5160A= (p.Glu1720=)
c.*4482A= (n.*4482A=)
c.230+11782A=
c.5190A= (p.Glu1730=)
c.5085A= (p.Glu1695=)
c.5076A= (p.Glu1692=)
c.5037A= (p.Glu1679=)
c.4983A= (p.Glu1661=)
c.4887A= (p.Glu1629=)
c.4857A= (p.Glu1619=)
c.4782A= (p.Glu1594=)
c.4680A= (p.Glu1560=)
c.4311A= (p.Glu1437=)
5g.112840754A>CCA16032610APCc.5214A>C (p.Glu1738Asp)
c.*5166A>C (n.*5166A>C)
c.5106A>C (p.Glu1702Asp)
c.5160A>C (p.Glu1720Asp)
c.*4482A>C (n.*4482A>C)
c.230+11782A>C
c.5190A>C (p.Glu1730Asp)
c.5085A>C (p.Glu1695Asp)
c.5076A>C (p.Glu1692Asp)
c.5037A>C (p.Glu1679Asp)
c.4983A>C (p.Glu1661Asp)
c.4887A>C (p.Glu1629Asp)
c.4857A>C (p.Glu1619Asp)
c.4782A>C (p.Glu1594Asp)
c.4680A>C (p.Glu1560Asp)
c.4311A>C (p.Glu1437Asp)
5g.112840754A>GCA446209614APCc.5214A>G (p.Glu1738=)
c.*5166A>G (n.*5166A>G)
c.5106A>G (p.Glu1702=)
c.5160A>G (p.Glu1720=)
c.*4482A>G (n.*4482A>G)
c.230+11782A>G
c.5190A>G (p.Glu1730=)
c.5085A>G (p.Glu1695=)
c.5076A>G (p.Glu1692=)
c.5037A>G (p.Glu1679=)
c.4983A>G (p.Glu1661=)
c.4887A>G (p.Glu1629=)
c.4857A>G (p.Glu1619=)
c.4782A>G (p.Glu1594=)
c.4680A>G (p.Glu1560=)
c.4311A>G (p.Glu1437=)
 ClinVar dbSNP gnomAD v4
5g.112840754A>TCA16032611APCc.5214A>T (p.Glu1738Asp)
c.*5166A>T (n.*5166A>T)
c.5106A>T (p.Glu1702Asp)
c.5160A>T (p.Glu1720Asp)
c.*4482A>T (n.*4482A>T)
c.230+11782A>T
c.5190A>T (p.Glu1730Asp)
c.5085A>T (p.Glu1695Asp)
c.5076A>T (p.Glu1692Asp)
c.5037A>T (p.Glu1679Asp)
c.4983A>T (p.Glu1661Asp)
c.4887A>T (p.Glu1629Asp)
c.4857A>T (p.Glu1619Asp)
c.4782A>T (p.Glu1594Asp)
c.4680A>T (p.Glu1560Asp)
c.4311A>T (p.Glu1437Asp)
 ClinVar dbSNP
5g.112840755G>ACA16032612APCc.5215G>A (p.Gly1739Ser)
c.*5167G>A (n.*5167G>A)
c.5107G>A (p.Gly1703Ser)
c.5161G>A (p.Gly1721Ser)
c.*4483G>A (n.*4483G>A)
c.230+11783G>A
c.5191G>A (p.Gly1731Ser)
c.5086G>A (p.Gly1696Ser)
c.5077G>A (p.Gly1693Ser)
c.5038G>A (p.Gly1680Ser)
c.4984G>A (p.Gly1662Ser)
c.4888G>A (p.Gly1630Ser)
c.4858G>A (p.Gly1620Ser)
c.4783G>A (p.Gly1595Ser)
c.4681G>A (p.Gly1561Ser)
c.4312G>A (p.Gly1438Ser)
 dbSNP
5g.112840755G>CCA16032613APCc.5215G>C (p.Gly1739Arg)
c.*5167G>C (n.*5167G>C)
c.5107G>C (p.Gly1703Arg)
c.5161G>C (p.Gly1721Arg)
c.*4483G>C (n.*4483G>C)
c.230+11783G>C
c.5191G>C (p.Gly1731Arg)
c.5086G>C (p.Gly1696Arg)
c.5077G>C (p.Gly1693Arg)
c.5038G>C (p.Gly1680Arg)
c.4984G>C (p.Gly1662Arg)
c.4888G>C (p.Gly1630Arg)
c.4858G>C (p.Gly1620Arg)
c.4783G>C (p.Gly1595Arg)
c.4681G>C (p.Gly1561Arg)
c.4312G>C (p.Gly1438Arg)
 ClinVar dbSNP
5g.112840755G=CA1573474252APCc.5215G= (p.Gly1739=)
c.*5167G= (n.*5167G=)
c.5107G= (p.Gly1703=)
c.5161G= (p.Gly1721=)
c.*4483G= (n.*4483G=)
c.230+11783G=
c.5191G= (p.Gly1731=)
c.5086G= (p.Gly1696=)
c.5077G= (p.Gly1693=)
c.5038G= (p.Gly1680=)
c.4984G= (p.Gly1662=)
c.4888G= (p.Gly1630=)
c.4858G= (p.Gly1620=)
c.4783G= (p.Gly1595=)
c.4681G= (p.Gly1561=)
c.4312G= (p.Gly1438=)
5g.112840755G>TCA16032614APCc.5215G>T (p.Gly1739Cys)
c.*5167G>T (n.*5167G>T)
c.5107G>T (p.Gly1703Cys)
c.5161G>T (p.Gly1721Cys)
c.*4483G>T (n.*4483G>T)
c.230+11783G>T
c.5191G>T (p.Gly1731Cys)
c.5086G>T (p.Gly1696Cys)
c.5077G>T (p.Gly1693Cys)
c.5038G>T (p.Gly1680Cys)
c.4984G>T (p.Gly1662Cys)
c.4888G>T (p.Gly1630Cys)
c.4858G>T (p.Gly1620Cys)
c.4783G>T (p.Gly1595Cys)
c.4681G>T (p.Gly1561Cys)
c.4312G>T (p.Gly1438Cys)
 dbSNP COSMIC
5g.112840756G>ACA10578397APCc.5216G>A (p.Gly1739Asp)
c.*5168G>A (n.*5168G>A)
c.5108G>A (p.Gly1703Asp)
c.5162G>A (p.Gly1721Asp)
c.*4484G>A (n.*4484G>A)
c.230+11784G>A
c.5192G>A (p.Gly1731Asp)
c.5087G>A (p.Gly1696Asp)
c.5078G>A (p.Gly1693Asp)
c.5039G>A (p.Gly1680Asp)
c.4985G>A (p.Gly1662Asp)
c.4889G>A (p.Gly1630Asp)
c.4859G>A (p.Gly1620Asp)
c.4784G>A (p.Gly1595Asp)
c.4682G>A (p.Gly1561Asp)
c.4313G>A (p.Gly1438Asp)
 ClinVar dbSNP gnomAD v4
5g.112840756G>CCA16032615APCc.5216G>C (p.Gly1739Ala)
c.*5168G>C (n.*5168G>C)
c.5108G>C (p.Gly1703Ala)
c.5162G>C (p.Gly1721Ala)
c.*4484G>C (n.*4484G>C)
c.230+11784G>C
c.5192G>C (p.Gly1731Ala)
c.5087G>C (p.Gly1696Ala)
c.5078G>C (p.Gly1693Ala)
c.5039G>C (p.Gly1680Ala)
c.4985G>C (p.Gly1662Ala)
c.4889G>C (p.Gly1630Ala)
c.4859G>C (p.Gly1620Ala)
c.4784G>C (p.Gly1595Ala)
c.4682G>C (p.Gly1561Ala)
c.4313G>C (p.Gly1438Ala)
5g.112840756G=CA1573474261APCc.5216G= (p.Gly1739=)
c.*5168G= (n.*5168G=)
c.5108G= (p.Gly1703=)
c.5162G= (p.Gly1721=)
c.*4484G= (n.*4484G=)
c.230+11784G=
c.5192G= (p.Gly1731=)
c.5087G= (p.Gly1696=)
c.5078G= (p.Gly1693=)
c.5039G= (p.Gly1680=)
c.4985G= (p.Gly1662=)
c.4889G= (p.Gly1630=)
c.4859G= (p.Gly1620=)
c.4784G= (p.Gly1595=)
c.4682G= (p.Gly1561=)
c.4313G= (p.Gly1438=)
5g.112840756G>TCA16032616APCc.5216G>T (p.Gly1739Val)
c.*5168G>T (n.*5168G>T)
c.5108G>T (p.Gly1703Val)
c.5162G>T (p.Gly1721Val)
c.*4484G>T (n.*4484G>T)
c.230+11784G>T
c.5192G>T (p.Gly1731Val)
c.5087G>T (p.Gly1696Val)
c.5078G>T (p.Gly1693Val)
c.5039G>T (p.Gly1680Val)
c.4985G>T (p.Gly1662Val)
c.4889G>T (p.Gly1630Val)
c.4859G>T (p.Gly1620Val)
c.4784G>T (p.Gly1595Val)
c.4682G>T (p.Gly1561Val)
c.4313G>T (p.Gly1438Val)
 ClinVar dbSNP
5g.112840757T>ACA446209615APCc.5217T>A (p.Gly1739=)
c.*5169T>A (n.*5169T>A)
c.5109T>A (p.Gly1703=)
c.5163T>A (p.Gly1721=)
c.*4485T>A (n.*4485T>A)
c.230+11785T>A
c.5193T>A (p.Gly1731=)
c.5088T>A (p.Gly1696=)
c.5079T>A (p.Gly1693=)
c.5040T>A (p.Gly1680=)
c.4986T>A (p.Gly1662=)
c.4890T>A (p.Gly1630=)
c.4860T>A (p.Gly1620=)
c.4785T>A (p.Gly1595=)
c.4683T>A (p.Gly1561=)
c.4314T>A (p.Gly1438=)
5g.112840757T>CCA446209616APCc.5217T>C (p.Gly1739=)
c.*5169T>C (n.*5169T>C)
c.5109T>C (p.Gly1703=)
c.5163T>C (p.Gly1721=)
c.*4485T>C (n.*4485T>C)
c.230+11785T>C
c.5193T>C (p.Gly1731=)
c.5088T>C (p.Gly1696=)
c.5079T>C (p.Gly1693=)
c.5040T>C (p.Gly1680=)
c.4986T>C (p.Gly1662=)
c.4890T>C (p.Gly1630=)
c.4860T>C (p.Gly1620=)
c.4785T>C (p.Gly1595=)
c.4683T>C (p.Gly1561=)
c.4314T>C (p.Gly1438=)
 ClinVar
5g.112840757T>GCA446209617APCc.5217T>G (p.Gly1739=)
c.*5169T>G (n.*5169T>G)
c.5109T>G (p.Gly1703=)
c.5163T>G (p.Gly1721=)
c.*4485T>G (n.*4485T>G)
c.230+11785T>G
c.5193T>G (p.Gly1731=)
c.5088T>G (p.Gly1696=)
c.5079T>G (p.Gly1693=)
c.5040T>G (p.Gly1680=)
c.4986T>G (p.Gly1662=)
c.4890T>G (p.Gly1630=)
c.4860T>G (p.Gly1620=)
c.4785T>G (p.Gly1595=)
c.4683T>G (p.Gly1561=)
c.4314T>G (p.Gly1438=)
5g.112840758G>ACA16032617APCc.5218G>A (p.Asp1740Asn)
c.*5170G>A (n.*5170G>A)
c.5110G>A (p.Asp1704Asn)
c.5164G>A (p.Asp1722Asn)
c.*4486G>A (n.*4486G>A)
c.230+11786G>A
c.5194G>A (p.Asp1732Asn)
c.5089G>A (p.Asp1697Asn)
c.5080G>A (p.Asp1694Asn)
c.5041G>A (p.Asp1681Asn)
c.4987G>A (p.Asp1663Asn)
c.4891G>A (p.Asp1631Asn)
c.4861G>A (p.Asp1621Asn)
c.4786G>A (p.Asp1596Asn)
c.4684G>A (p.Asp1562Asn)
c.4315G>A (p.Asp1439Asn)
 ClinVar dbSNP
5g.112840758G>CCA16032618APCc.5218G>C (p.Asp1740His)
c.*5170G>C (n.*5170G>C)
c.5110G>C (p.Asp1704His)
c.5164G>C (p.Asp1722His)
c.*4486G>C (n.*4486G>C)
c.230+11786G>C
c.5194G>C (p.Asp1732His)
c.5089G>C (p.Asp1697His)
c.5080G>C (p.Asp1694His)
c.5041G>C (p.Asp1681His)
c.4987G>C (p.Asp1663His)
c.4891G>C (p.Asp1631His)
c.4861G>C (p.Asp1621His)
c.4786G>C (p.Asp1596His)
c.4684G>C (p.Asp1562His)
c.4315G>C (p.Asp1439His)
 ClinVar dbSNP gnomAD v4
5g.112840758G=CA1573474268APCc.5218G= (p.Asp1740=)
c.*5170G= (n.*5170G=)
c.5110G= (p.Asp1704=)
c.5164G= (p.Asp1722=)
c.*4486G= (n.*4486G=)
c.230+11786G=
c.5194G= (p.Asp1732=)
c.5089G= (p.Asp1697=)
c.5080G= (p.Asp1694=)
c.5041G= (p.Asp1681=)
c.4987G= (p.Asp1663=)
c.4891G= (p.Asp1631=)
c.4861G= (p.Asp1621=)
c.4786G= (p.Asp1596=)
c.4684G= (p.Asp1562=)
c.4315G= (p.Asp1439=)
5g.112840758G>TCA16032619APCc.5218G>T (p.Asp1740Tyr)
c.*5170G>T (n.*5170G>T)
c.5110G>T (p.Asp1704Tyr)
c.5164G>T (p.Asp1722Tyr)
c.*4486G>T (n.*4486G>T)
c.230+11786G>T
c.5194G>T (p.Asp1732Tyr)
c.5089G>T (p.Asp1697Tyr)
c.5080G>T (p.Asp1694Tyr)
c.5041G>T (p.Asp1681Tyr)
c.4987G>T (p.Asp1663Tyr)
c.4891G>T (p.Asp1631Tyr)
c.4861G>T (p.Asp1621Tyr)
c.4786G>T (p.Asp1596Tyr)
c.4684G>T (p.Asp1562Tyr)
c.4315G>T (p.Asp1439Tyr)
5g.112840759A=CA1573474275APCc.5219A= (p.Asp1740=)
c.*5171A= (n.*5171A=)
c.5111A= (p.Asp1704=)
c.5165A= (p.Asp1722=)
c.*4487A= (n.*4487A=)
c.230+11787A=
c.5195A= (p.Asp1732=)
c.5090A= (p.Asp1697=)
c.5081A= (p.Asp1694=)
c.5042A= (p.Asp1681=)
c.4988A= (p.Asp1663=)
c.4892A= (p.Asp1631=)
c.4862A= (p.Asp1621=)
c.4787A= (p.Asp1596=)
c.4685A= (p.Asp1562=)
c.4316A= (p.Asp1439=)
5g.112840759A>CCA16032620APCc.5219A>C (p.Asp1740Ala)
c.*5171A>C (n.*5171A>C)
c.5111A>C (p.Asp1704Ala)
c.5165A>C (p.Asp1722Ala)
c.*4487A>C (n.*4487A>C)
c.230+11787A>C
c.5195A>C (p.Asp1732Ala)
c.5090A>C (p.Asp1697Ala)
c.5081A>C (p.Asp1694Ala)
c.5042A>C (p.Asp1681Ala)
c.4988A>C (p.Asp1663Ala)
c.4892A>C (p.Asp1631Ala)
c.4862A>C (p.Asp1621Ala)
c.4787A>C (p.Asp1596Ala)
c.4685A>C (p.Asp1562Ala)
c.4316A>C (p.Asp1439Ala)
 dbSNP
5g.112840759A>GCA16032621APCc.5219A>G (p.Asp1740Gly)
c.*5171A>G (n.*5171A>G)
c.5111A>G (p.Asp1704Gly)
c.5165A>G (p.Asp1722Gly)
c.*4487A>G (n.*4487A>G)
c.230+11787A>G
c.5195A>G (p.Asp1732Gly)
c.5090A>G (p.Asp1697Gly)
c.5081A>G (p.Asp1694Gly)
c.5042A>G (p.Asp1681Gly)
c.4988A>G (p.Asp1663Gly)
c.4892A>G (p.Asp1631Gly)
c.4862A>G (p.Asp1621Gly)
c.4787A>G (p.Asp1596Gly)
c.4685A>G (p.Asp1562Gly)
c.4316A>G (p.Asp1439Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840759A>TCA16032622APCc.5219A>T (p.Asp1740Val)
c.*5171A>T (n.*5171A>T)
c.5111A>T (p.Asp1704Val)
c.5165A>T (p.Asp1722Val)
c.*4487A>T (n.*4487A>T)
c.230+11787A>T
c.5195A>T (p.Asp1732Val)
c.5090A>T (p.Asp1697Val)
c.5081A>T (p.Asp1694Val)
c.5042A>T (p.Asp1681Val)
c.4988A>T (p.Asp1663Val)
c.4892A>T (p.Asp1631Val)
c.4862A>T (p.Asp1621Val)
c.4787A>T (p.Asp1596Val)
c.4685A>T (p.Asp1562Val)
c.4316A>T (p.Asp1439Val)
 ClinVar dbSNP
5g.112840760T>ACA16032623APCc.5220T>A (p.Asp1740Glu)
c.*5172T>A (n.*5172T>A)
c.5112T>A (p.Asp1704Glu)
c.5166T>A (p.Asp1722Glu)
c.*4488T>A (n.*4488T>A)
c.230+11788T>A
c.5196T>A (p.Asp1732Glu)
c.5091T>A (p.Asp1697Glu)
c.5082T>A (p.Asp1694Glu)
c.5043T>A (p.Asp1681Glu)
c.4989T>A (p.Asp1663Glu)
c.4893T>A (p.Asp1631Glu)
c.4863T>A (p.Asp1621Glu)
c.4788T>A (p.Asp1596Glu)
c.4686T>A (p.Asp1562Glu)
c.4317T>A (p.Asp1439Glu)
 dbSNP gnomAD v4
5g.112840760T>CCA446209618APCc.5220T>C (p.Asp1740=)
c.*5172T>C (n.*5172T>C)
c.5112T>C (p.Asp1704=)
c.5166T>C (p.Asp1722=)
c.*4488T>C (n.*4488T>C)
c.230+11788T>C
c.5196T>C (p.Asp1732=)
c.5091T>C (p.Asp1697=)
c.5082T>C (p.Asp1694=)
c.5043T>C (p.Asp1681=)
c.4989T>C (p.Asp1663=)
c.4893T>C (p.Asp1631=)
c.4863T>C (p.Asp1621=)
c.4788T>C (p.Asp1596=)
c.4686T>C (p.Asp1562=)
c.4317T>C (p.Asp1439=)
5g.112840760T>GCA16032624APCc.5220T>G (p.Asp1740Glu)
c.*5172T>G (n.*5172T>G)
c.5112T>G (p.Asp1704Glu)
c.5166T>G (p.Asp1722Glu)
c.*4488T>G (n.*4488T>G)
c.230+11788T>G
c.5196T>G (p.Asp1732Glu)
c.5091T>G (p.Asp1697Glu)
c.5082T>G (p.Asp1694Glu)
c.5043T>G (p.Asp1681Glu)
c.4989T>G (p.Asp1663Glu)
c.4893T>G (p.Asp1631Glu)
c.4863T>G (p.Asp1621Glu)
c.4788T>G (p.Asp1596Glu)
c.4686T>G (p.Asp1562Glu)
c.4317T>G (p.Asp1439Glu)
 dbSNP
5g.112840761A=CA1573474307APCc.5221A= (p.Ile1741=)
c.*5173A= (n.*5173A=)
c.5113A= (p.Ile1705=)
c.5167A= (p.Ile1723=)
c.*4489A= (n.*4489A=)
c.230+11789A=
c.5197A= (p.Ile1733=)
c.5092A= (p.Ile1698=)
c.5083A= (p.Ile1695=)
c.5044A= (p.Ile1682=)
c.4990A= (p.Ile1664=)
c.4894A= (p.Ile1632=)
c.4864A= (p.Ile1622=)
c.4789A= (p.Ile1597=)
c.4687A= (p.Ile1563=)
c.4318A= (p.Ile1440=)
5g.112840761A>CCA16032625APCc.5221A>C (p.Ile1741Leu)
c.*5173A>C (n.*5173A>C)
c.5113A>C (p.Ile1705Leu)
c.5167A>C (p.Ile1723Leu)
c.*4489A>C (n.*4489A>C)
c.230+11789A>C
c.5197A>C (p.Ile1733Leu)
c.5092A>C (p.Ile1698Leu)
c.5083A>C (p.Ile1695Leu)
c.5044A>C (p.Ile1682Leu)
c.4990A>C (p.Ile1664Leu)
c.4894A>C (p.Ile1632Leu)
c.4864A>C (p.Ile1622Leu)
c.4789A>C (p.Ile1597Leu)
c.4687A>C (p.Ile1563Leu)
c.4318A>C (p.Ile1440Leu)
 dbSNP
5g.112840761A>GCA16032626APCc.5221A>G (p.Ile1741Val)
c.*5173A>G (n.*5173A>G)
c.5113A>G (p.Ile1705Val)
c.5167A>G (p.Ile1723Val)
c.*4489A>G (n.*4489A>G)
c.230+11789A>G
c.5197A>G (p.Ile1733Val)
c.5092A>G (p.Ile1698Val)
c.5083A>G (p.Ile1695Val)
c.5044A>G (p.Ile1682Val)
c.4990A>G (p.Ile1664Val)
c.4894A>G (p.Ile1632Val)
c.4864A>G (p.Ile1622Val)
c.4789A>G (p.Ile1597Val)
c.4687A>G (p.Ile1563Val)
c.4318A>G (p.Ile1440Val)
 ClinVar dbSNP
5g.112840761A>TCA16032627APCc.5221A>T (p.Ile1741Phe)
c.*5173A>T (n.*5173A>T)
c.5113A>T (p.Ile1705Phe)
c.5167A>T (p.Ile1723Phe)
c.*4489A>T (n.*4489A>T)
c.230+11789A>T
c.5197A>T (p.Ile1733Phe)
c.5092A>T (p.Ile1698Phe)
c.5083A>T (p.Ile1695Phe)
c.5044A>T (p.Ile1682Phe)
c.4990A>T (p.Ile1664Phe)
c.4894A>T (p.Ile1632Phe)
c.4864A>T (p.Ile1622Phe)
c.4789A>T (p.Ile1597Phe)
c.4687A>T (p.Ile1563Phe)
c.4318A>T (p.Ile1440Phe)
 dbSNP
5g.112840761_112840764delinsATTCCA1573474282APCc.5221_5224delinsATTC (p.Ile1741=)
c.*5173_*5176delinsATTC (n.*5173_*5176delinsATTC)
c.5113_5116delinsATTC (p.Ile1705=)
c.5167_5170delinsATTC (p.Ile1723=)
c.*4489_*4492delinsATTC (n.*4489_*4492delinsATTC)
c.230+11789_230+11792delinsATTC
c.5197_5200delinsATTC (p.Ile1733=)
c.5092_5095delinsATTC (p.Ile1698=)
c.5083_5086delinsATTC (p.Ile1695=)
c.5044_5047delinsATTC (p.Ile1682=)
c.4990_4993delinsATTC (p.Ile1664=)
c.4894_4897delinsATTC (p.Ile1632=)
c.4864_4867delinsATTC (p.Ile1622=)
c.4789_4792delinsATTC (p.Ile1597=)
c.4687_4690delinsATTC (p.Ile1563=)
c.4318_4321delinsATTC (p.Ile1440=)
5g.112840762T>ACA16032628APCc.5222T>A (p.Ile1741Asn)
c.*5174T>A (n.*5174T>A)
c.5114T>A (p.Ile1705Asn)
c.5168T>A (p.Ile1723Asn)
c.*4490T>A (n.*4490T>A)
c.230+11790T>A
c.5198T>A (p.Ile1733Asn)
c.5093T>A (p.Ile1698Asn)
c.5084T>A (p.Ile1695Asn)
c.5045T>A (p.Ile1682Asn)
c.4991T>A (p.Ile1664Asn)
c.4895T>A (p.Ile1632Asn)
c.4865T>A (p.Ile1622Asn)
c.4790T>A (p.Ile1597Asn)
c.4688T>A (p.Ile1563Asn)
c.4319T>A (p.Ile1440Asn)
 ClinVar dbSNP
5g.112840762T>CCA16032629APCc.5222T>C (p.Ile1741Thr)
c.*5174T>C (n.*5174T>C)
c.5114T>C (p.Ile1705Thr)
c.5168T>C (p.Ile1723Thr)
c.*4490T>C (n.*4490T>C)
c.230+11790T>C
c.5198T>C (p.Ile1733Thr)
c.5093T>C (p.Ile1698Thr)
c.5084T>C (p.Ile1695Thr)
c.5045T>C (p.Ile1682Thr)
c.4991T>C (p.Ile1664Thr)
c.4895T>C (p.Ile1632Thr)
c.4865T>C (p.Ile1622Thr)
c.4790T>C (p.Ile1597Thr)
c.4688T>C (p.Ile1563Thr)
c.4319T>C (p.Ile1440Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840762T>GCA16032630APCc.5222T>G (p.Ile1741Ser)
c.*5174T>G (n.*5174T>G)
c.5114T>G (p.Ile1705Ser)
c.5168T>G (p.Ile1723Ser)
c.*4490T>G (n.*4490T>G)
c.230+11790T>G
c.5198T>G (p.Ile1733Ser)
c.5093T>G (p.Ile1698Ser)
c.5084T>G (p.Ile1695Ser)
c.5045T>G (p.Ile1682Ser)
c.4991T>G (p.Ile1664Ser)
c.4895T>G (p.Ile1632Ser)
c.4865T>G (p.Ile1622Ser)
c.4790T>G (p.Ile1597Ser)
c.4688T>G (p.Ile1563Ser)
c.4319T>G (p.Ile1440Ser)
 ClinVar dbSNP
5g.112840762T=CA1573474318APCc.5222T= (p.Ile1741=)
c.*5174T= (n.*5174T=)
c.5114T= (p.Ile1705=)
c.5168T= (p.Ile1723=)
c.*4490T= (n.*4490T=)
c.230+11790T=
c.5198T= (p.Ile1733=)
c.5093T= (p.Ile1698=)
c.5084T= (p.Ile1695=)
c.5045T= (p.Ile1682=)
c.4991T= (p.Ile1664=)
c.4895T= (p.Ile1632=)
c.4865T= (p.Ile1622=)
c.4790T= (p.Ile1597=)
c.4688T= (p.Ile1563=)
c.4319T= (p.Ile1440=)
5g.112840764_112840766delCA040806APCc.5224_5226del (p.Leu1742del)
c.*5176_*5178del (n.*5176_*5178del)
c.5116_5118del (p.Leu1706del)
c.5170_5172del (p.Leu1724del)
c.*4492_*4494del (n.*4492_*4494del)
c.230+11792_230+11794del
c.5200_5202del (p.Leu1734del)
c.5095_5097del (p.Leu1699del)
c.5086_5088del (p.Leu1696del)
c.5047_5049del (p.Leu1683del)
c.4993_4995del (p.Leu1665del)
c.4897_4899del (p.Leu1633del)
c.4867_4869del (p.Leu1623del)
c.4792_4794del (p.Leu1598del)
c.4690_4692del (p.Leu1564del)
c.4321_4323del (p.Leu1441del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840763T>ACA446209619APCc.5223T>A (p.Ile1741=)
c.*5175T>A (n.*5175T>A)
c.5115T>A (p.Ile1705=)
c.5169T>A (p.Ile1723=)
c.*4491T>A (n.*4491T>A)
c.230+11791T>A
c.5199T>A (p.Ile1733=)
c.5094T>A (p.Ile1698=)
c.5085T>A (p.Ile1695=)
c.5046T>A (p.Ile1682=)
c.4992T>A (p.Ile1664=)
c.4896T>A (p.Ile1632=)
c.4866T>A (p.Ile1622=)
c.4791T>A (p.Ile1597=)
c.4689T>A (p.Ile1563=)
c.4320T>A (p.Ile1440=)
 dbSNP
5g.112840763T>CCA446209620APCc.5223T>C (p.Ile1741=)
c.*5175T>C (n.*5175T>C)
c.5115T>C (p.Ile1705=)
c.5169T>C (p.Ile1723=)
c.*4491T>C (n.*4491T>C)
c.230+11791T>C
c.5199T>C (p.Ile1733=)
c.5094T>C (p.Ile1698=)
c.5085T>C (p.Ile1695=)
c.5046T>C (p.Ile1682=)
c.4992T>C (p.Ile1664=)
c.4896T>C (p.Ile1632=)
c.4866T>C (p.Ile1622=)
c.4791T>C (p.Ile1597=)
c.4689T>C (p.Ile1563=)
c.4320T>C (p.Ile1440=)
 dbSNP
5g.112840763T>GCA16032631APCc.5223T>G (p.Ile1741Met)
c.*5175T>G (n.*5175T>G)
c.5115T>G (p.Ile1705Met)
c.5169T>G (p.Ile1723Met)
c.*4491T>G (n.*4491T>G)
c.230+11791T>G
c.5199T>G (p.Ile1733Met)
c.5094T>G (p.Ile1698Met)
c.5085T>G (p.Ile1695Met)
c.5046T>G (p.Ile1682Met)
c.4992T>G (p.Ile1664Met)
c.4896T>G (p.Ile1632Met)
c.4866T>G (p.Ile1622Met)
c.4791T>G (p.Ile1597Met)
c.4689T>G (p.Ile1563Met)
c.4320T>G (p.Ile1440Met)
 ClinVar dbSNP gnomAD v4
5g.112840763T=CA1573474380APCc.5223T= (p.Ile1741=)
c.*5175T= (n.*5175T=)
c.5115T= (p.Ile1705=)
c.5169T= (p.Ile1723=)
c.*4491T= (n.*4491T=)
c.230+11791T=
c.5199T= (p.Ile1733=)
c.5094T= (p.Ile1698=)
c.5085T= (p.Ile1695=)
c.5046T= (p.Ile1682=)
c.4992T= (p.Ile1664=)
c.4896T= (p.Ile1632=)
c.4866T= (p.Ile1622=)
c.4791T= (p.Ile1597=)
c.4689T= (p.Ile1563=)
c.4320T= (p.Ile1440=)
5g.112840764C>ACA16032632APCc.5224C>A (p.Leu1742Ile)
c.*5176C>A (n.*5176C>A)
c.5116C>A (p.Leu1706Ile)
c.5170C>A (p.Leu1724Ile)
c.*4492C>A (n.*4492C>A)
c.230+11792C>A
c.5200C>A (p.Leu1734Ile)
c.5095C>A (p.Leu1699Ile)
c.5086C>A (p.Leu1696Ile)
c.5047C>A (p.Leu1683Ile)
c.4993C>A (p.Leu1665Ile)
c.4897C>A (p.Leu1633Ile)
c.4867C>A (p.Leu1623Ile)
c.4792C>A (p.Leu1598Ile)
c.4690C>A (p.Leu1564Ile)
c.4321C>A (p.Leu1441Ile)
 COSMIC
5g.112840764C=CA1573474393APCc.5224C= (p.Leu1742=)
c.*5176C= (n.*5176C=)
c.5116C= (p.Leu1706=)
c.5170C= (p.Leu1724=)
c.*4492C= (n.*4492C=)
c.230+11792C=
c.5200C= (p.Leu1734=)
c.5095C= (p.Leu1699=)
c.5086C= (p.Leu1696=)
c.5047C= (p.Leu1683=)
c.4993C= (p.Leu1665=)
c.4897C= (p.Leu1633=)
c.4867C= (p.Leu1623=)
c.4792C= (p.Leu1598=)
c.4690C= (p.Leu1564=)
c.4321C= (p.Leu1441=)
5g.112840764C>GCA009899APCc.5224C>G (p.Leu1742Val)
c.*5176C>G (n.*5176C>G)
c.5116C>G (p.Leu1706Val)
c.5170C>G (p.Leu1724Val)
c.*4492C>G (n.*4492C>G)
c.230+11792C>G
c.5200C>G (p.Leu1734Val)
c.5095C>G (p.Leu1699Val)
c.5086C>G (p.Leu1696Val)
c.5047C>G (p.Leu1683Val)
c.4993C>G (p.Leu1665Val)
c.4897C>G (p.Leu1633Val)
c.4867C>G (p.Leu1623Val)
c.4792C>G (p.Leu1598Val)
c.4690C>G (p.Leu1564Val)
c.4321C>G (p.Leu1441Val)
 ClinVar dbSNP
5g.112840764C>TCA16032633APCc.5224C>T (p.Leu1742Phe)
c.*5176C>T (n.*5176C>T)
c.5116C>T (p.Leu1706Phe)
c.5170C>T (p.Leu1724Phe)
c.*4492C>T (n.*4492C>T)
c.230+11792C>T
c.5200C>T (p.Leu1734Phe)
c.5095C>T (p.Leu1699Phe)
c.5086C>T (p.Leu1696Phe)
c.5047C>T (p.Leu1683Phe)
c.4993C>T (p.Leu1665Phe)
c.4897C>T (p.Leu1633Phe)
c.4867C>T (p.Leu1623Phe)
c.4792C>T (p.Leu1598Phe)
c.4690C>T (p.Leu1564Phe)
c.4321C>T (p.Leu1441Phe)
 ClinVar dbSNP gnomAD v4
5g.112840765T>ACA16032634APCc.5225T>A (p.Leu1742His)
c.*5177T>A (n.*5177T>A)
c.5117T>A (p.Leu1706His)
c.5171T>A (p.Leu1724His)
c.*4493T>A (n.*4493T>A)
c.230+11793T>A
c.5201T>A (p.Leu1734His)
c.5096T>A (p.Leu1699His)
c.5087T>A (p.Leu1696His)
c.5048T>A (p.Leu1683His)
c.4994T>A (p.Leu1665His)
c.4898T>A (p.Leu1633His)
c.4868T>A (p.Leu1623His)
c.4793T>A (p.Leu1598His)
c.4691T>A (p.Leu1564His)
c.4322T>A (p.Leu1441His)
 dbSNP
5g.112840765T>CCA16032635APCc.5225T>C (p.Leu1742Pro)
c.*5177T>C (n.*5177T>C)
c.5117T>C (p.Leu1706Pro)
c.5171T>C (p.Leu1724Pro)
c.*4493T>C (n.*4493T>C)
c.230+11793T>C
c.5201T>C (p.Leu1734Pro)
c.5096T>C (p.Leu1699Pro)
c.5087T>C (p.Leu1696Pro)
c.5048T>C (p.Leu1683Pro)
c.4994T>C (p.Leu1665Pro)
c.4898T>C (p.Leu1633Pro)
c.4868T>C (p.Leu1623Pro)
c.4793T>C (p.Leu1598Pro)
c.4691T>C (p.Leu1564Pro)
c.4322T>C (p.Leu1441Pro)
 dbSNP
5g.112840765T>GCA16032636APCc.5225T>G (p.Leu1742Arg)
c.*5177T>G (n.*5177T>G)
c.5117T>G (p.Leu1706Arg)
c.5171T>G (p.Leu1724Arg)
c.*4493T>G (n.*4493T>G)
c.230+11793T>G
c.5201T>G (p.Leu1734Arg)
c.5096T>G (p.Leu1699Arg)
c.5087T>G (p.Leu1696Arg)
c.5048T>G (p.Leu1683Arg)
c.4994T>G (p.Leu1665Arg)
c.4898T>G (p.Leu1633Arg)
c.4868T>G (p.Leu1623Arg)
c.4793T>G (p.Leu1598Arg)
c.4691T>G (p.Leu1564Arg)
c.4322T>G (p.Leu1441Arg)
5g.112840766T>ACA446209621APCc.5226T>A (p.Leu1742=)
c.*5178T>A (n.*5178T>A)
c.5118T>A (p.Leu1706=)
c.5172T>A (p.Leu1724=)
c.*4494T>A (n.*4494T>A)
c.230+11794T>A
c.5202T>A (p.Leu1734=)
c.5097T>A (p.Leu1699=)
c.5088T>A (p.Leu1696=)
c.5049T>A (p.Leu1683=)
c.4995T>A (p.Leu1665=)
c.4899T>A (p.Leu1633=)
c.4869T>A (p.Leu1623=)
c.4794T>A (p.Leu1598=)
c.4692T>A (p.Leu1564=)
c.4323T>A (p.Leu1441=)
 dbSNP
5g.112840766T>CCA446209622APCc.5226T>C (p.Leu1742=)
c.*5178T>C (n.*5178T>C)
c.5118T>C (p.Leu1706=)
c.5172T>C (p.Leu1724=)
c.*4494T>C (n.*4494T>C)
c.230+11794T>C
c.5202T>C (p.Leu1734=)
c.5097T>C (p.Leu1699=)
c.5088T>C (p.Leu1696=)
c.5049T>C (p.Leu1683=)
c.4995T>C (p.Leu1665=)
c.4899T>C (p.Leu1633=)
c.4869T>C (p.Leu1623=)
c.4794T>C (p.Leu1598=)
c.4692T>C (p.Leu1564=)
c.4323T>C (p.Leu1441=)
5g.112840766T>GCA446209623APCc.5226T>G (p.Leu1742=)
c.*5178T>G (n.*5178T>G)
c.5118T>G (p.Leu1706=)
c.5172T>G (p.Leu1724=)
c.*4494T>G (n.*4494T>G)
c.230+11794T>G
c.5202T>G (p.Leu1734=)
c.5097T>G (p.Leu1699=)
c.5088T>G (p.Leu1696=)
c.5049T>G (p.Leu1683=)
c.4995T>G (p.Leu1665=)
c.4899T>G (p.Leu1633=)
c.4869T>G (p.Leu1623=)
c.4794T>G (p.Leu1598=)
c.4692T>G (p.Leu1564=)
c.4323T>G (p.Leu1441=)
5g.112840767G>ACA16032637APCc.5227G>A (p.Ala1743Thr)
c.*5179G>A (n.*5179G>A)
c.5119G>A (p.Ala1707Thr)
c.5173G>A (p.Ala1725Thr)
c.*4495G>A (n.*4495G>A)
c.230+11795G>A
c.5203G>A (p.Ala1735Thr)
c.5098G>A (p.Ala1700Thr)
c.5089G>A (p.Ala1697Thr)
c.5050G>A (p.Ala1684Thr)
c.4996G>A (p.Ala1666Thr)
c.4900G>A (p.Ala1634Thr)
c.4870G>A (p.Ala1624Thr)
c.4795G>A (p.Ala1599Thr)
c.4693G>A (p.Ala1565Thr)
c.4324G>A (p.Ala1442Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.112840767G>CCA16032638APCc.5227G>C (p.Ala1743Pro)
c.*5179G>C (n.*5179G>C)
c.5119G>C (p.Ala1707Pro)
c.5173G>C (p.Ala1725Pro)
c.*4495G>C (n.*4495G>C)
c.230+11795G>C
c.5203G>C (p.Ala1735Pro)
c.5098G>C (p.Ala1700Pro)
c.5089G>C (p.Ala1697Pro)
c.5050G>C (p.Ala1684Pro)
c.4996G>C (p.Ala1666Pro)
c.4900G>C (p.Ala1634Pro)
c.4870G>C (p.Ala1624Pro)
c.4795G>C (p.Ala1599Pro)
c.4693G>C (p.Ala1565Pro)
c.4324G>C (p.Ala1442Pro)
 dbSNP
5g.112840767G=CA1573474407APCc.5227G= (p.Ala1743=)
c.*5179G= (n.*5179G=)
c.5119G= (p.Ala1707=)
c.5173G= (p.Ala1725=)
c.*4495G= (n.*4495G=)
c.230+11795G=
c.5203G= (p.Ala1735=)
c.5098G= (p.Ala1700=)
c.5089G= (p.Ala1697=)
c.5050G= (p.Ala1684=)
c.4996G= (p.Ala1666=)
c.4900G= (p.Ala1634=)
c.4870G= (p.Ala1624=)
c.4795G= (p.Ala1599=)
c.4693G= (p.Ala1565=)
c.4324G= (p.Ala1442=)
5g.112840767G>TCA16032639APCc.5227G>T (p.Ala1743Ser)
c.*5179G>T (n.*5179G>T)
c.5119G>T (p.Ala1707Ser)
c.5173G>T (p.Ala1725Ser)
c.*4495G>T (n.*4495G>T)
c.230+11795G>T
c.5203G>T (p.Ala1735Ser)
c.5098G>T (p.Ala1700Ser)
c.5089G>T (p.Ala1697Ser)
c.5050G>T (p.Ala1684Ser)
c.4996G>T (p.Ala1666Ser)
c.4900G>T (p.Ala1634Ser)
c.4870G>T (p.Ala1624Ser)
c.4795G>T (p.Ala1599Ser)
c.4693G>T (p.Ala1565Ser)
c.4324G>T (p.Ala1442Ser)
 ClinVar dbSNP
5g.112840768C>ACA16032640APCc.5228C>A (p.Ala1743Glu)
c.*5180C>A (n.*5180C>A)
c.5120C>A (p.Ala1707Glu)
c.5174C>A (p.Ala1725Glu)
c.*4496C>A (n.*4496C>A)
c.230+11796C>A
c.5204C>A (p.Ala1735Glu)
c.5099C>A (p.Ala1700Glu)
c.5090C>A (p.Ala1697Glu)
c.5051C>A (p.Ala1684Glu)
c.4997C>A (p.Ala1666Glu)
c.4901C>A (p.Ala1634Glu)
c.4871C>A (p.Ala1624Glu)
c.4796C>A (p.Ala1599Glu)
c.4694C>A (p.Ala1565Glu)
c.4325C>A (p.Ala1442Glu)
 dbSNP
5g.112840768C>GCA16032641APCc.5228C>G (p.Ala1743Gly)
c.*5180C>G (n.*5180C>G)
c.5120C>G (p.Ala1707Gly)
c.5174C>G (p.Ala1725Gly)
c.*4496C>G (n.*4496C>G)
c.230+11796C>G
c.5204C>G (p.Ala1735Gly)
c.5099C>G (p.Ala1700Gly)
c.5090C>G (p.Ala1697Gly)
c.5051C>G (p.Ala1684Gly)
c.4997C>G (p.Ala1666Gly)
c.4901C>G (p.Ala1634Gly)
c.4871C>G (p.Ala1624Gly)
c.4796C>G (p.Ala1599Gly)
c.4694C>G (p.Ala1565Gly)
c.4325C>G (p.Ala1442Gly)
 dbSNP
5g.112840768C>TCA16032642APCc.5228C>T (p.Ala1743Val)
c.*5180C>T (n.*5180C>T)
c.5120C>T (p.Ala1707Val)
c.5174C>T (p.Ala1725Val)
c.*4496C>T (n.*4496C>T)
c.230+11796C>T
c.5204C>T (p.Ala1735Val)
c.5099C>T (p.Ala1700Val)
c.5090C>T (p.Ala1697Val)
c.5051C>T (p.Ala1684Val)
c.4997C>T (p.Ala1666Val)
c.4901C>T (p.Ala1634Val)
c.4871C>T (p.Ala1624Val)
c.4796C>T (p.Ala1599Val)
c.4694C>T (p.Ala1565Val)
c.4325C>T (p.Ala1442Val)
 ClinVar dbSNP gnomAD v4
5g.112840769A>CCA446209624APCc.5229A>C (p.Ala1743=)
c.*5181A>C (n.*5181A>C)
c.5121A>C (p.Ala1707=)
c.5175A>C (p.Ala1725=)
c.*4497A>C (n.*4497A>C)
c.230+11797A>C
c.5205A>C (p.Ala1735=)
c.5100A>C (p.Ala1700=)
c.5091A>C (p.Ala1697=)
c.5052A>C (p.Ala1684=)
c.4998A>C (p.Ala1666=)
c.4902A>C (p.Ala1634=)
c.4872A>C (p.Ala1624=)
c.4797A>C (p.Ala1599=)
c.4695A>C (p.Ala1565=)
c.4326A>C (p.Ala1442=)
5g.112840769A>GCA446209625APCc.5229A>G (p.Ala1743=)
c.*5181A>G (n.*5181A>G)
c.5121A>G (p.Ala1707=)
c.5175A>G (p.Ala1725=)
c.*4497A>G (n.*4497A>G)
c.230+11797A>G
c.5205A>G (p.Ala1735=)
c.5100A>G (p.Ala1700=)
c.5091A>G (p.Ala1697=)
c.5052A>G (p.Ala1684=)
c.4998A>G (p.Ala1666=)
c.4902A>G (p.Ala1634=)
c.4872A>G (p.Ala1624=)
c.4797A>G (p.Ala1599=)
c.4695A>G (p.Ala1565=)
c.4326A>G (p.Ala1442=)
 dbSNP
5g.112840769A>TCA446209626APCc.5229A>T (p.Ala1743=)
c.*5181A>T (n.*5181A>T)
c.5121A>T (p.Ala1707=)
c.5175A>T (p.Ala1725=)
c.*4497A>T (n.*4497A>T)
c.230+11797A>T
c.5205A>T (p.Ala1735=)
c.5100A>T (p.Ala1700=)
c.5091A>T (p.Ala1697=)
c.5052A>T (p.Ala1684=)
c.4998A>T (p.Ala1666=)
c.4902A>T (p.Ala1634=)
c.4872A>T (p.Ala1624=)
c.4797A>T (p.Ala1599=)
c.4695A>T (p.Ala1565=)
c.4326A>T (p.Ala1442=)
 dbSNP
5g.112840770G>ACA16032643APCc.5230G>A (p.Glu1744Lys)
c.*5182G>A (n.*5182G>A)
c.5122G>A (p.Glu1708Lys)
c.5176G>A (p.Glu1726Lys)
c.*4498G>A (n.*4498G>A)
c.230+11798G>A
c.5206G>A (p.Glu1736Lys)
c.5101G>A (p.Glu1701Lys)
c.5092G>A (p.Glu1698Lys)
c.5053G>A (p.Glu1685Lys)
c.4999G>A (p.Glu1667Lys)
c.4903G>A (p.Glu1635Lys)
c.4873G>A (p.Glu1625Lys)
c.4798G>A (p.Glu1600Lys)
c.4696G>A (p.Glu1566Lys)
c.4327G>A (p.Glu1443Lys)
 ClinVar dbSNP gnomAD v4
5g.112840770G>CCA16032644APCc.5230G>C (p.Glu1744Gln)
c.*5182G>C (n.*5182G>C)
c.5122G>C (p.Glu1708Gln)
c.5176G>C (p.Glu1726Gln)
c.*4498G>C (n.*4498G>C)
c.230+11798G>C
c.5206G>C (p.Glu1736Gln)
c.5101G>C (p.Glu1701Gln)
c.5092G>C (p.Glu1698Gln)
c.5053G>C (p.Glu1685Gln)
c.4999G>C (p.Glu1667Gln)
c.4903G>C (p.Glu1635Gln)
c.4873G>C (p.Glu1625Gln)
c.4798G>C (p.Glu1600Gln)
c.4696G>C (p.Glu1566Gln)
c.4327G>C (p.Glu1443Gln)
 ClinVar dbSNP COSMIC
5g.112840770G=CA1573474417APCc.5230G= (p.Glu1744=)
c.*5182G= (n.*5182G=)
c.5122G= (p.Glu1708=)
c.5176G= (p.Glu1726=)
c.*4498G= (n.*4498G=)
c.230+11798G=
c.5206G= (p.Glu1736=)
c.5101G= (p.Glu1701=)
c.5092G= (p.Glu1698=)
c.5053G= (p.Glu1685=)
c.4999G= (p.Glu1667=)
c.4903G= (p.Glu1635=)
c.4873G= (p.Glu1625=)
c.4798G= (p.Glu1600=)
c.4696G= (p.Glu1566=)
c.4327G= (p.Glu1443=)
5g.112840770G>TCA16032645APCc.5230G>T (p.Glu1744Ter)
c.*5182G>T (n.*5182G>T)
c.5122G>T (p.Glu1708Ter)
c.5176G>T (p.Glu1726Ter)
c.*4498G>T (n.*4498G>T)
c.230+11798G>T
c.5206G>T (p.Glu1736Ter)
c.5101G>T (p.Glu1701Ter)
c.5092G>T (p.Glu1698Ter)
c.5053G>T (p.Glu1685Ter)
c.4999G>T (p.Glu1667Ter)
c.4903G>T (p.Glu1635Ter)
c.4873G>T (p.Glu1625Ter)
c.4798G>T (p.Glu1600Ter)
c.4696G>T (p.Glu1566Ter)
c.4327G>T (p.Glu1443Ter)
5g.112840771A=CA1573474427APCc.5231A= (p.Glu1744=)
c.*5183A= (n.*5183A=)
c.5123A= (p.Glu1708=)
c.5177A= (p.Glu1726=)
c.*4499A= (n.*4499A=)
c.230+11799A=
c.5207A= (p.Glu1736=)
c.5102A= (p.Glu1701=)
c.5093A= (p.Glu1698=)
c.5054A= (p.Glu1685=)
c.5000A= (p.Glu1667=)
c.4904A= (p.Glu1635=)
c.4874A= (p.Glu1625=)
c.4799A= (p.Glu1600=)
c.4697A= (p.Glu1566=)
c.4328A= (p.Glu1443=)
5g.112840771A>CCA16032646APCc.5231A>C (p.Glu1744Ala)
c.*5183A>C (n.*5183A>C)
c.5123A>C (p.Glu1708Ala)
c.5177A>C (p.Glu1726Ala)
c.*4499A>C (n.*4499A>C)
c.230+11799A>C
c.5207A>C (p.Glu1736Ala)
c.5102A>C (p.Glu1701Ala)
c.5093A>C (p.Glu1698Ala)
c.5054A>C (p.Glu1685Ala)
c.5000A>C (p.Glu1667Ala)
c.4904A>C (p.Glu1635Ala)
c.4874A>C (p.Glu1625Ala)
c.4799A>C (p.Glu1600Ala)
c.4697A>C (p.Glu1566Ala)
c.4328A>C (p.Glu1443Ala)
5g.112840771A>GCA009909APCc.5231A>G (p.Glu1744Gly)
c.*5183A>G (n.*5183A>G)
c.5123A>G (p.Glu1708Gly)
c.5177A>G (p.Glu1726Gly)
c.*4499A>G (n.*4499A>G)
c.230+11799A>G
c.5207A>G (p.Glu1736Gly)
c.5102A>G (p.Glu1701Gly)
c.5093A>G (p.Glu1698Gly)
c.5054A>G (p.Glu1685Gly)
c.5000A>G (p.Glu1667Gly)
c.4904A>G (p.Glu1635Gly)
c.4874A>G (p.Glu1625Gly)
c.4799A>G (p.Glu1600Gly)
c.4697A>G (p.Glu1566Gly)
c.4328A>G (p.Glu1443Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840771A>TCA16032647APCc.5231A>T (p.Glu1744Val)
c.*5183A>T (n.*5183A>T)
c.5123A>T (p.Glu1708Val)
c.5177A>T (p.Glu1726Val)
c.*4499A>T (n.*4499A>T)
c.230+11799A>T
c.5207A>T (p.Glu1736Val)
c.5102A>T (p.Glu1701Val)
c.5093A>T (p.Glu1698Val)
c.5054A>T (p.Glu1685Val)
c.5000A>T (p.Glu1667Val)
c.4904A>T (p.Glu1635Val)
c.4874A>T (p.Glu1625Val)
c.4799A>T (p.Glu1600Val)
c.4697A>T (p.Glu1566Val)
c.4328A>T (p.Glu1443Val)
 dbSNP
5g.112840772A=CA1573474440APCc.5232A= (p.Glu1744=)
c.*5184A= (n.*5184A=)
c.5124A= (p.Glu1708=)
c.5178A= (p.Glu1726=)
c.*4500A= (n.*4500A=)
c.230+11800A=
c.5208A= (p.Glu1736=)
c.5103A= (p.Glu1701=)
c.5094A= (p.Glu1698=)
c.5055A= (p.Glu1685=)
c.5001A= (p.Glu1667=)
c.4905A= (p.Glu1635=)
c.4875A= (p.Glu1625=)
c.4800A= (p.Glu1600=)
c.4698A= (p.Glu1566=)
c.4329A= (p.Glu1443=)
5g.112840772A>CCA16032648APCc.5232A>C (p.Glu1744Asp)
c.*5184A>C (n.*5184A>C)
c.5124A>C (p.Glu1708Asp)
c.5178A>C (p.Glu1726Asp)
c.*4500A>C (n.*4500A>C)
c.230+11800A>C
c.5208A>C (p.Glu1736Asp)
c.5103A>C (p.Glu1701Asp)
c.5094A>C (p.Glu1698Asp)
c.5055A>C (p.Glu1685Asp)
c.5001A>C (p.Glu1667Asp)
c.4905A>C (p.Glu1635Asp)
c.4875A>C (p.Glu1625Asp)
c.4800A>C (p.Glu1600Asp)
c.4698A>C (p.Glu1566Asp)
c.4329A>C (p.Glu1443Asp)
5g.112840772A>GCA009919APCc.5232A>G (p.Glu1744=)
c.*5184A>G (n.*5184A>G)
c.5124A>G (p.Glu1708=)
c.5178A>G (p.Glu1726=)
c.*4500A>G (n.*4500A>G)
c.230+11800A>G
c.5208A>G (p.Glu1736=)
c.5103A>G (p.Glu1701=)
c.5094A>G (p.Glu1698=)
c.5055A>G (p.Glu1685=)
c.5001A>G (p.Glu1667=)
c.4905A>G (p.Glu1635=)
c.4875A>G (p.Glu1625=)
c.4800A>G (p.Glu1600=)
c.4698A>G (p.Glu1566=)
c.4329A>G (p.Glu1443=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840772A>TCA16032649APCc.5232A>T (p.Glu1744Asp)
c.*5184A>T (n.*5184A>T)
c.5124A>T (p.Glu1708Asp)
c.5178A>T (p.Glu1726Asp)
c.*4500A>T (n.*4500A>T)
c.230+11800A>T
c.5208A>T (p.Glu1736Asp)
c.5103A>T (p.Glu1701Asp)
c.5094A>T (p.Glu1698Asp)
c.5055A>T (p.Glu1685Asp)
c.5001A>T (p.Glu1667Asp)
c.4905A>T (p.Glu1635Asp)
c.4875A>T (p.Glu1625Asp)
c.4800A>T (p.Glu1600Asp)
c.4698A>T (p.Glu1566Asp)
c.4329A>T (p.Glu1443Asp)
 dbSNP
5g.112840773T>ACA16032650APCc.5233T>A (p.Cys1745Ser)
c.*5185T>A (n.*5185T>A)
c.5125T>A (p.Cys1709Ser)
c.5179T>A (p.Cys1727Ser)
c.*4501T>A (n.*4501T>A)
c.230+11801T>A
c.5209T>A (p.Cys1737Ser)
c.5104T>A (p.Cys1702Ser)
c.5095T>A (p.Cys1699Ser)
c.5056T>A (p.Cys1686Ser)
c.5002T>A (p.Cys1668Ser)
c.4906T>A (p.Cys1636Ser)
c.4876T>A (p.Cys1626Ser)
c.4801T>A (p.Cys1601Ser)
c.4699T>A (p.Cys1567Ser)
c.4330T>A (p.Cys1444Ser)
 ClinVar dbSNP
5g.112840773T>CCA040871APCc.5233T>C (p.Cys1745Arg)
c.*5185T>C (n.*5185T>C)
c.5125T>C (p.Cys1709Arg)
c.5179T>C (p.Cys1727Arg)
c.*4501T>C (n.*4501T>C)
c.230+11801T>C
c.5209T>C (p.Cys1737Arg)
c.5104T>C (p.Cys1702Arg)
c.5095T>C (p.Cys1699Arg)
c.5056T>C (p.Cys1686Arg)
c.5002T>C (p.Cys1668Arg)
c.4906T>C (p.Cys1636Arg)
c.4876T>C (p.Cys1626Arg)
c.4801T>C (p.Cys1601Arg)
c.4699T>C (p.Cys1567Arg)
c.4330T>C (p.Cys1444Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840773T>GCA16032651APCc.5233T>G (p.Cys1745Gly)
c.*5185T>G (n.*5185T>G)
c.5125T>G (p.Cys1709Gly)
c.5179T>G (p.Cys1727Gly)
c.*4501T>G (n.*4501T>G)
c.230+11801T>G
c.5209T>G (p.Cys1737Gly)
c.5104T>G (p.Cys1702Gly)
c.5095T>G (p.Cys1699Gly)
c.5056T>G (p.Cys1686Gly)
c.5002T>G (p.Cys1668Gly)
c.4906T>G (p.Cys1636Gly)
c.4876T>G (p.Cys1626Gly)
c.4801T>G (p.Cys1601Gly)
c.4699T>G (p.Cys1567Gly)
c.4330T>G (p.Cys1444Gly)
5g.112840773T=CA1573474445APCc.5233T= (p.Cys1745=)
c.*5185T= (n.*5185T=)
c.5125T= (p.Cys1709=)
c.5179T= (p.Cys1727=)
c.*4501T= (n.*4501T=)
c.230+11801T=
c.5209T= (p.Cys1737=)
c.5104T= (p.Cys1702=)
c.5095T= (p.Cys1699=)
c.5056T= (p.Cys1686=)
c.5002T= (p.Cys1668=)
c.4906T= (p.Cys1636=)
c.4876T= (p.Cys1626=)
c.4801T= (p.Cys1601=)
c.4699T= (p.Cys1567=)
c.4330T= (p.Cys1444=)
5g.112840774G>ACA16032652APCc.5234G>A (p.Cys1745Tyr)
c.*5186G>A (n.*5186G>A)
c.5126G>A (p.Cys1709Tyr)
c.5180G>A (p.Cys1727Tyr)
c.*4502G>A (n.*4502G>A)
c.230+11802G>A
c.5210G>A (p.Cys1737Tyr)
c.5105G>A (p.Cys1702Tyr)
c.5096G>A (p.Cys1699Tyr)
c.5057G>A (p.Cys1686Tyr)
c.5003G>A (p.Cys1668Tyr)
c.4907G>A (p.Cys1636Tyr)
c.4877G>A (p.Cys1626Tyr)
c.4802G>A (p.Cys1601Tyr)
c.4700G>A (p.Cys1567Tyr)
c.4331G>A (p.Cys1444Tyr)
 ClinVar dbSNP
5g.112840774G>CCA16032653APCc.5234G>C (p.Cys1745Ser)
c.*5186G>C (n.*5186G>C)
c.5126G>C (p.Cys1709Ser)
c.5180G>C (p.Cys1727Ser)
c.*4502G>C (n.*4502G>C)
c.230+11802G>C
c.5210G>C (p.Cys1737Ser)
c.5105G>C (p.Cys1702Ser)
c.5096G>C (p.Cys1699Ser)
c.5057G>C (p.Cys1686Ser)
c.5003G>C (p.Cys1668Ser)
c.4907G>C (p.Cys1636Ser)
c.4877G>C (p.Cys1626Ser)
c.4802G>C (p.Cys1601Ser)
c.4700G>C (p.Cys1567Ser)
c.4331G>C (p.Cys1444Ser)
 ClinVar dbSNP
5g.112840774G=CA1573474461APCc.5234G= (p.Cys1745=)
c.*5186G= (n.*5186G=)
c.5126G= (p.Cys1709=)
c.5180G= (p.Cys1727=)
c.*4502G= (n.*4502G=)
c.230+11802G=
c.5210G= (p.Cys1737=)
c.5105G= (p.Cys1702=)
c.5096G= (p.Cys1699=)
c.5057G= (p.Cys1686=)
c.5003G= (p.Cys1668=)
c.4907G= (p.Cys1636=)
c.4877G= (p.Cys1626=)
c.4802G= (p.Cys1601=)
c.4700G= (p.Cys1567=)
c.4331G= (p.Cys1444=)
5g.112840774G>TCA16032654APCc.5234G>T (p.Cys1745Phe)
c.*5186G>T (n.*5186G>T)
c.5126G>T (p.Cys1709Phe)
c.5180G>T (p.Cys1727Phe)
c.*4502G>T (n.*4502G>T)
c.230+11802G>T
c.5210G>T (p.Cys1737Phe)
c.5105G>T (p.Cys1702Phe)
c.5096G>T (p.Cys1699Phe)
c.5057G>T (p.Cys1686Phe)
c.5003G>T (p.Cys1668Phe)
c.4907G>T (p.Cys1636Phe)
c.4877G>T (p.Cys1626Phe)
c.4802G>T (p.Cys1601Phe)
c.4700G>T (p.Cys1567Phe)
c.4331G>T (p.Cys1444Phe)
5g.112840774_112840789delinsGCATTAATTCTGCTATCA1573474458APCc.5234_5249delinsGCATTAATTCTGCTAT (p.Cys1745=)
c.*5186_*5201delinsGCATTAATTCTGCTAT (n.*5186_*5201delinsGCATTAATTCTGCTAT)
c.5126_5141delinsGCATTAATTCTGCTAT (p.Cys1709=)
c.5180_5195delinsGCATTAATTCTGCTAT (p.Cys1727=)
c.*4502_*4517delinsGCATTAATTCTGCTAT (n.*4502_*4517delinsGCATTAATTCTGCTAT)
c.230+11802_230+11817delinsGCATTAATTCTGCTAT
c.5210_5225delinsGCATTAATTCTGCTAT (p.Cys1737=)
c.5105_5120delinsGCATTAATTCTGCTAT (p.Cys1702=)
c.5096_5111delinsGCATTAATTCTGCTAT (p.Cys1699=)
c.5057_5072delinsGCATTAATTCTGCTAT (p.Cys1686=)
c.5003_5018delinsGCATTAATTCTGCTAT (p.Cys1668=)
c.4907_4922delinsGCATTAATTCTGCTAT (p.Cys1636=)
c.4877_4892delinsGCATTAATTCTGCTAT (p.Cys1626=)
c.4802_4817delinsGCATTAATTCTGCTAT (p.Cys1601=)
c.4700_4715delinsGCATTAATTCTGCTAT (p.Cys1567=)
c.4331_4346delinsGCATTAATTCTGCTAT (p.Cys1444=)
5g.112840775C>ACA16032655APCc.5235C>A (p.Cys1745Ter)
c.*5187C>A (n.*5187C>A)
c.5127C>A (p.Cys1709Ter)
c.5181C>A (p.Cys1727Ter)
c.*4503C>A (n.*4503C>A)
c.230+11803C>A
c.5211C>A (p.Cys1737Ter)
c.5106C>A (p.Cys1702Ter)
c.5097C>A (p.Cys1699Ter)
c.5058C>A (p.Cys1686Ter)
c.5004C>A (p.Cys1668Ter)
c.4908C>A (p.Cys1636Ter)
c.4878C>A (p.Cys1626Ter)
c.4803C>A (p.Cys1601Ter)
c.4701C>A (p.Cys1567Ter)
c.4332C>A (p.Cys1444Ter)
 dbSNP
5g.112840775C=CA1573474478APCc.5235C= (p.Cys1745=)
c.*5187C= (n.*5187C=)
c.5127C= (p.Cys1709=)
c.5181C= (p.Cys1727=)
c.*4503C= (n.*4503C=)
c.230+11803C=
c.5211C= (p.Cys1737=)
c.5106C= (p.Cys1702=)
c.5097C= (p.Cys1699=)
c.5058C= (p.Cys1686=)
c.5004C= (p.Cys1668=)
c.4908C= (p.Cys1636=)
c.4878C= (p.Cys1626=)
c.4803C= (p.Cys1601=)
c.4701C= (p.Cys1567=)
c.4332C= (p.Cys1444=)
5g.112840775C>GCA16032656APCc.5235C>G (p.Cys1745Trp)
c.*5187C>G (n.*5187C>G)
c.5127C>G (p.Cys1709Trp)
c.5181C>G (p.Cys1727Trp)
c.*4503C>G (n.*4503C>G)
c.230+11803C>G
c.5211C>G (p.Cys1737Trp)
c.5106C>G (p.Cys1702Trp)
c.5097C>G (p.Cys1699Trp)
c.5058C>G (p.Cys1686Trp)
c.5004C>G (p.Cys1668Trp)
c.4908C>G (p.Cys1636Trp)
c.4878C>G (p.Cys1626Trp)
c.4803C>G (p.Cys1601Trp)
c.4701C>G (p.Cys1567Trp)
c.4332C>G (p.Cys1444Trp)
 dbSNP
5g.112840775C>TCA446209627APCc.5235C>T (p.Cys1745=)
c.*5187C>T (n.*5187C>T)
c.5127C>T (p.Cys1709=)
c.5181C>T (p.Cys1727=)
c.*4503C>T (n.*4503C>T)
c.230+11803C>T
c.5211C>T (p.Cys1737=)
c.5106C>T (p.Cys1702=)
c.5097C>T (p.Cys1699=)
c.5058C>T (p.Cys1686=)
c.5004C>T (p.Cys1668=)
c.4908C>T (p.Cys1636=)
c.4878C>T (p.Cys1626=)
c.4803C>T (p.Cys1601=)
c.4701C>T (p.Cys1567=)
c.4332C>T (p.Cys1444=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840775_112840779delinsCATTACA1573474476APCc.5235_5239delinsCATTA (p.Cys1745=)
c.*5187_*5191delinsCATTA (n.*5187_*5191delinsCATTA)
c.5127_5131delinsCATTA (p.Cys1709=)
c.5181_5185delinsCATTA (p.Cys1727=)
c.*4503_*4507delinsCATTA (n.*4503_*4507delinsCATTA)
c.230+11803_230+11807delinsCATTA
c.5211_5215delinsCATTA (p.Cys1737=)
c.5106_5110delinsCATTA (p.Cys1702=)
c.5097_5101delinsCATTA (p.Cys1699=)
c.5058_5062delinsCATTA (p.Cys1686=)
c.5004_5008delinsCATTA (p.Cys1668=)
c.4908_4912delinsCATTA (p.Cys1636=)
c.4878_4882delinsCATTA (p.Cys1626=)
c.4803_4807delinsCATTA (p.Cys1601=)
c.4701_4705delinsCATTA (p.Cys1567=)
c.4332_4336delinsCATTA (p.Cys1444=)
5g.112840775_112840789delCA658683426APCc.5235_5249del (p.Cys1745_Met1750delinsTrp)
c.*5187_*5201del (n.*5187_*5201del)
c.5127_5141del (p.Cys1709_Met1714delinsTrp)
c.5181_5195del (p.Cys1727_Met1732delinsTrp)
c.*4503_*4517del (n.*4503_*4517del)
c.230+11803_230+11817del
c.5211_5225del (p.Cys1737_Met1742delinsTrp)
c.5106_5120del (p.Cys1702_Met1707delinsTrp)
c.5097_5111del (p.Cys1699_Met1704delinsTrp)
c.5058_5072del (p.Cys1686_Met1691delinsTrp)
c.5004_5018del (p.Cys1668_Met1673delinsTrp)
c.4908_4922del (p.Cys1636_Met1641delinsTrp)
c.4878_4892del (p.Cys1626_Met1631delinsTrp)
c.4803_4817del (p.Cys1601_Met1606delinsTrp)
c.4701_4715del (p.Cys1567_Met1572delinsTrp)
c.4332_4346del (p.Cys1444_Met1449delinsTrp)
 ClinVar dbSNP gnomAD v4
5g.112840776A=CA1573474512APCc.5236A= (p.Ile1746=)
c.*5188A= (n.*5188A=)
c.5128A= (p.Ile1710=)
c.5182A= (p.Ile1728=)
c.*4504A= (n.*4504A=)
c.230+11804A=
c.5212A= (p.Ile1738=)
c.5107A= (p.Ile1703=)
c.5098A= (p.Ile1700=)
c.5059A= (p.Ile1687=)
c.5005A= (p.Ile1669=)
c.4909A= (p.Ile1637=)
c.4879A= (p.Ile1627=)
c.4804A= (p.Ile1602=)
c.4702A= (p.Ile1568=)
c.4333A= (p.Ile1445=)
5g.112840776A>CCA16032657APCc.5236A>C (p.Ile1746Leu)
c.*5188A>C (n.*5188A>C)
c.5128A>C (p.Ile1710Leu)
c.5182A>C (p.Ile1728Leu)
c.*4504A>C (n.*4504A>C)
c.230+11804A>C
c.5212A>C (p.Ile1738Leu)
c.5107A>C (p.Ile1703Leu)
c.5098A>C (p.Ile1700Leu)
c.5059A>C (p.Ile1687Leu)
c.5005A>C (p.Ile1669Leu)
c.4909A>C (p.Ile1637Leu)
c.4879A>C (p.Ile1627Leu)
c.4804A>C (p.Ile1602Leu)
c.4702A>C (p.Ile1568Leu)
c.4333A>C (p.Ile1445Leu)
 dbSNP
5g.112840776A>GCA040889APCc.5236A>G (p.Ile1746Val)
c.*5188A>G (n.*5188A>G)
c.5128A>G (p.Ile1710Val)
c.5182A>G (p.Ile1728Val)
c.*4504A>G (n.*4504A>G)
c.230+11804A>G
c.5212A>G (p.Ile1738Val)
c.5107A>G (p.Ile1703Val)
c.5098A>G (p.Ile1700Val)
c.5059A>G (p.Ile1687Val)
c.5005A>G (p.Ile1669Val)
c.4909A>G (p.Ile1637Val)
c.4879A>G (p.Ile1627Val)
c.4804A>G (p.Ile1602Val)
c.4702A>G (p.Ile1568Val)
c.4333A>G (p.Ile1445Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840776A>TCA16032658APCc.5236A>T (p.Ile1746Phe)
c.*5188A>T (n.*5188A>T)
c.5128A>T (p.Ile1710Phe)
c.5182A>T (p.Ile1728Phe)
c.*4504A>T (n.*4504A>T)
c.230+11804A>T
c.5212A>T (p.Ile1738Phe)
c.5107A>T (p.Ile1703Phe)
c.5098A>T (p.Ile1700Phe)
c.5059A>T (p.Ile1687Phe)
c.5005A>T (p.Ile1669Phe)
c.4909A>T (p.Ile1637Phe)
c.4879A>T (p.Ile1627Phe)
c.4804A>T (p.Ile1602Phe)
c.4702A>T (p.Ile1568Phe)
c.4333A>T (p.Ile1445Phe)
 dbSNP
5g.112840779_112840782delCA916079917APCc.5239_5242del (p.Asn1747LeufsTer14)
c.*5191_*5194del (n.*5191_*5194del)
c.5131_5134del (p.Asn1711LeufsTer14)
c.5185_5188del (p.Asn1729LeufsTer14)
c.*4507_*4510del (n.*4507_*4510del)
c.230+11807_230+11810del
c.5215_5218del (p.Asn1739LeufsTer14)
c.5110_5113del (p.Asn1704LeufsTer14)
c.5101_5104del (p.Asn1701LeufsTer14)
c.5062_5065del (p.Asn1688LeufsTer14)
c.5008_5011del (p.Asn1670LeufsTer14)
c.4912_4915del (p.Asn1638LeufsTer14)
c.4882_4885del (p.Asn1628LeufsTer14)
c.4807_4810del (p.Asn1603LeufsTer14)
c.4705_4708del (p.Asn1569LeufsTer14)
c.4336_4339del (p.Asn1446LeufsTer14)
 ClinVar dbSNP
5g.112840777T>ACA16032659APCc.5237T>A (p.Ile1746Asn)
c.*5189T>A (n.*5189T>A)
c.5129T>A (p.Ile1710Asn)
c.5183T>A (p.Ile1728Asn)
c.*4505T>A (n.*4505T>A)
c.230+11805T>A
c.5213T>A (p.Ile1738Asn)
c.5108T>A (p.Ile1703Asn)
c.5099T>A (p.Ile1700Asn)
c.5060T>A (p.Ile1687Asn)
c.5006T>A (p.Ile1669Asn)
c.4910T>A (p.Ile1637Asn)
c.4880T>A (p.Ile1627Asn)
c.4805T>A (p.Ile1602Asn)
c.4703T>A (p.Ile1568Asn)
c.4334T>A (p.Ile1445Asn)
 dbSNP
5g.112840777T>CCA16032660APCc.5237T>C (p.Ile1746Thr)
c.*5189T>C (n.*5189T>C)
c.5129T>C (p.Ile1710Thr)
c.5183T>C (p.Ile1728Thr)
c.*4505T>C (n.*4505T>C)
c.230+11805T>C
c.5213T>C (p.Ile1738Thr)
c.5108T>C (p.Ile1703Thr)
c.5099T>C (p.Ile1700Thr)
c.5060T>C (p.Ile1687Thr)
c.5006T>C (p.Ile1669Thr)
c.4910T>C (p.Ile1637Thr)
c.4880T>C (p.Ile1627Thr)
c.4805T>C (p.Ile1602Thr)
c.4703T>C (p.Ile1568Thr)
c.4334T>C (p.Ile1445Thr)
5g.112840777T>GCA16032661APCc.5237T>G (p.Ile1746Ser)
c.*5189T>G (n.*5189T>G)
c.5129T>G (p.Ile1710Ser)
c.5183T>G (p.Ile1728Ser)
c.*4505T>G (n.*4505T>G)
c.230+11805T>G
c.5213T>G (p.Ile1738Ser)
c.5108T>G (p.Ile1703Ser)
c.5099T>G (p.Ile1700Ser)
c.5060T>G (p.Ile1687Ser)
c.5006T>G (p.Ile1669Ser)
c.4910T>G (p.Ile1637Ser)
c.4880T>G (p.Ile1627Ser)
c.4805T>G (p.Ile1602Ser)
c.4703T>G (p.Ile1568Ser)
c.4334T>G (p.Ile1445Ser)
 dbSNP
5g.112840778T>ACA446209628APCc.5238T>A (p.Ile1746=)
c.*5190T>A (n.*5190T>A)
c.5130T>A (p.Ile1710=)
c.5184T>A (p.Ile1728=)
c.*4506T>A (n.*4506T>A)
c.230+11806T>A
c.5214T>A (p.Ile1738=)
c.5109T>A (p.Ile1703=)
c.5100T>A (p.Ile1700=)
c.5061T>A (p.Ile1687=)
c.5007T>A (p.Ile1669=)
c.4911T>A (p.Ile1637=)
c.4881T>A (p.Ile1627=)
c.4806T>A (p.Ile1602=)
c.4704T>A (p.Ile1568=)
c.4335T>A (p.Ile1445=)
 dbSNP
5g.112840778T>CCA446209629APCc.5238T>C (p.Ile1746=)
c.*5190T>C (n.*5190T>C)
c.5130T>C (p.Ile1710=)
c.5184T>C (p.Ile1728=)
c.*4506T>C (n.*4506T>C)
c.230+11806T>C
c.5214T>C (p.Ile1738=)
c.5109T>C (p.Ile1703=)
c.5100T>C (p.Ile1700=)
c.5061T>C (p.Ile1687=)
c.5007T>C (p.Ile1669=)
c.4911T>C (p.Ile1637=)
c.4881T>C (p.Ile1627=)
c.4806T>C (p.Ile1602=)
c.4704T>C (p.Ile1568=)
c.4335T>C (p.Ile1445=)
 ClinVar dbSNP
5g.112840778T>GCA16032662APCc.5238T>G (p.Ile1746Met)
c.*5190T>G (n.*5190T>G)
c.5130T>G (p.Ile1710Met)
c.5184T>G (p.Ile1728Met)
c.*4506T>G (n.*4506T>G)
c.230+11806T>G
c.5214T>G (p.Ile1738Met)
c.5109T>G (p.Ile1703Met)
c.5100T>G (p.Ile1700Met)
c.5061T>G (p.Ile1687Met)
c.5007T>G (p.Ile1669Met)
c.4911T>G (p.Ile1637Met)
c.4881T>G (p.Ile1627Met)
c.4806T>G (p.Ile1602Met)
c.4704T>G (p.Ile1568Met)
c.4335T>G (p.Ile1445Met)
5g.112840779A=CA1573474543APCc.5239A= (p.Asn1747=)
c.*5191A= (n.*5191A=)
c.5131A= (p.Asn1711=)
c.5185A= (p.Asn1729=)
c.*4507A= (n.*4507A=)
c.230+11807A=
c.5215A= (p.Asn1739=)
c.5110A= (p.Asn1704=)
c.5101A= (p.Asn1701=)
c.5062A= (p.Asn1688=)
c.5008A= (p.Asn1670=)
c.4912A= (p.Asn1638=)
c.4882A= (p.Asn1628=)
c.4807A= (p.Asn1603=)
c.4705A= (p.Asn1569=)
c.4336A= (p.Asn1446=)
5g.112840779A>CCA16032663APCc.5239A>C (p.Asn1747His)
c.*5191A>C (n.*5191A>C)
c.5131A>C (p.Asn1711His)
c.5185A>C (p.Asn1729His)
c.*4507A>C (n.*4507A>C)
c.230+11807A>C
c.5215A>C (p.Asn1739His)
c.5110A>C (p.Asn1704His)
c.5101A>C (p.Asn1701His)
c.5062A>C (p.Asn1688His)
c.5008A>C (p.Asn1670His)
c.4912A>C (p.Asn1638His)
c.4882A>C (p.Asn1628His)
c.4807A>C (p.Asn1603His)
c.4705A>C (p.Asn1569His)
c.4336A>C (p.Asn1446His)
 dbSNP gnomAD v3 gnomAD v4
5g.112840779A>GCA16032664APCc.5239A>G (p.Asn1747Asp)
c.*5191A>G (n.*5191A>G)
c.5131A>G (p.Asn1711Asp)
c.5185A>G (p.Asn1729Asp)
c.*4507A>G (n.*4507A>G)
c.230+11807A>G
c.5215A>G (p.Asn1739Asp)
c.5110A>G (p.Asn1704Asp)
c.5101A>G (p.Asn1701Asp)
c.5062A>G (p.Asn1688Asp)
c.5008A>G (p.Asn1670Asp)
c.4912A>G (p.Asn1638Asp)
c.4882A>G (p.Asn1628Asp)
c.4807A>G (p.Asn1603Asp)
c.4705A>G (p.Asn1569Asp)
c.4336A>G (p.Asn1446Asp)
5g.112840779A>TCA16032665APCc.5239A>T (p.Asn1747Tyr)
c.*5191A>T (n.*5191A>T)
c.5131A>T (p.Asn1711Tyr)
c.5185A>T (p.Asn1729Tyr)
c.*4507A>T (n.*4507A>T)
c.230+11807A>T
c.5215A>T (p.Asn1739Tyr)
c.5110A>T (p.Asn1704Tyr)
c.5101A>T (p.Asn1701Tyr)
c.5062A>T (p.Asn1688Tyr)
c.5008A>T (p.Asn1670Tyr)
c.4912A>T (p.Asn1638Tyr)
c.4882A>T (p.Asn1628Tyr)
c.4807A>T (p.Asn1603Tyr)
c.4705A>T (p.Asn1569Tyr)
c.4336A>T (p.Asn1446Tyr)
 dbSNP
5g.112840780A>CCA16032666APCc.5240A>C (p.Asn1747Thr)
c.*5192A>C (n.*5192A>C)
c.5132A>C (p.Asn1711Thr)
c.5186A>C (p.Asn1729Thr)
c.*4508A>C (n.*4508A>C)
c.230+11808A>C
c.5216A>C (p.Asn1739Thr)
c.5111A>C (p.Asn1704Thr)
c.5102A>C (p.Asn1701Thr)
c.5063A>C (p.Asn1688Thr)
c.5009A>C (p.Asn1670Thr)
c.4913A>C (p.Asn1638Thr)
c.4883A>C (p.Asn1628Thr)
c.4808A>C (p.Asn1603Thr)
c.4706A>C (p.Asn1569Thr)
c.4337A>C (p.Asn1446Thr)
 dbSNP
5g.112840780A>GCA16032667APCc.5240A>G (p.Asn1747Ser)
c.*5192A>G (n.*5192A>G)
c.5132A>G (p.Asn1711Ser)
c.5186A>G (p.Asn1729Ser)
c.*4508A>G (n.*4508A>G)
c.230+11808A>G
c.5216A>G (p.Asn1739Ser)
c.5111A>G (p.Asn1704Ser)
c.5102A>G (p.Asn1701Ser)
c.5063A>G (p.Asn1688Ser)
c.5009A>G (p.Asn1670Ser)
c.4913A>G (p.Asn1638Ser)
c.4883A>G (p.Asn1628Ser)
c.4808A>G (p.Asn1603Ser)
c.4706A>G (p.Asn1569Ser)
c.4337A>G (p.Asn1446Ser)
 dbSNP
5g.112840780A>TCA16032668APCc.5240A>T (p.Asn1747Ile)
c.*5192A>T (n.*5192A>T)
c.5132A>T (p.Asn1711Ile)
c.5186A>T (p.Asn1729Ile)
c.*4508A>T (n.*4508A>T)
c.230+11808A>T
c.5216A>T (p.Asn1739Ile)
c.5111A>T (p.Asn1704Ile)
c.5102A>T (p.Asn1701Ile)
c.5063A>T (p.Asn1688Ile)
c.5009A>T (p.Asn1670Ile)
c.4913A>T (p.Asn1638Ile)
c.4883A>T (p.Asn1628Ile)
c.4808A>T (p.Asn1603Ile)
c.4706A>T (p.Asn1569Ile)
c.4337A>T (p.Asn1446Ile)
 dbSNP
5g.112840781T>ACA16032669APCc.5241T>A (p.Asn1747Lys)
c.*5193T>A (n.*5193T>A)
c.5133T>A (p.Asn1711Lys)
c.5187T>A (p.Asn1729Lys)
c.*4509T>A (n.*4509T>A)
c.230+11809T>A
c.5217T>A (p.Asn1739Lys)
c.5112T>A (p.Asn1704Lys)
c.5103T>A (p.Asn1701Lys)
c.5064T>A (p.Asn1688Lys)
c.5010T>A (p.Asn1670Lys)
c.4914T>A (p.Asn1638Lys)
c.4884T>A (p.Asn1628Lys)
c.4809T>A (p.Asn1603Lys)
c.4707T>A (p.Asn1569Lys)
c.4338T>A (p.Asn1446Lys)
 dbSNP
5g.112840781T>CCA446209630APCc.5241T>C (p.Asn1747=)
c.*5193T>C (n.*5193T>C)
c.5133T>C (p.Asn1711=)
c.5187T>C (p.Asn1729=)
c.*4509T>C (n.*4509T>C)
c.230+11809T>C
c.5217T>C (p.Asn1739=)
c.5112T>C (p.Asn1704=)
c.5103T>C (p.Asn1701=)
c.5064T>C (p.Asn1688=)
c.5010T>C (p.Asn1670=)
c.4914T>C (p.Asn1638=)
c.4884T>C (p.Asn1628=)
c.4809T>C (p.Asn1603=)
c.4707T>C (p.Asn1569=)
c.4338T>C (p.Asn1446=)
 dbSNP gnomAD v4
5g.112840781T>GCA16032670APCc.5241T>G (p.Asn1747Lys)
c.*5193T>G (n.*5193T>G)
c.5133T>G (p.Asn1711Lys)
c.5187T>G (p.Asn1729Lys)
c.*4509T>G (n.*4509T>G)
c.230+11809T>G
c.5217T>G (p.Asn1739Lys)
c.5112T>G (p.Asn1704Lys)
c.5103T>G (p.Asn1701Lys)
c.5064T>G (p.Asn1688Lys)
c.5010T>G (p.Asn1670Lys)
c.4914T>G (p.Asn1638Lys)
c.4884T>G (p.Asn1628Lys)
c.4809T>G (p.Asn1603Lys)
c.4707T>G (p.Asn1569Lys)
c.4338T>G (p.Asn1446Lys)
 ClinVar
5g.112840782T>ACA16032671APCc.5242T>A (p.Ser1748Thr)
c.*5194T>A (n.*5194T>A)
c.5134T>A (p.Ser1712Thr)
c.5188T>A (p.Ser1730Thr)
c.*4510T>A (n.*4510T>A)
c.230+11810T>A
c.5218T>A (p.Ser1740Thr)
c.5113T>A (p.Ser1705Thr)
c.5104T>A (p.Ser1702Thr)
c.5065T>A (p.Ser1689Thr)
c.5011T>A (p.Ser1671Thr)
c.4915T>A (p.Ser1639Thr)
c.4885T>A (p.Ser1629Thr)
c.4810T>A (p.Ser1604Thr)
c.4708T>A (p.Ser1570Thr)
c.4339T>A (p.Ser1447Thr)
 dbSNP
5g.112840782T>CCA16032672APCc.5242T>C (p.Ser1748Pro)
c.*5194T>C (n.*5194T>C)
c.5134T>C (p.Ser1712Pro)
c.5188T>C (p.Ser1730Pro)
c.*4510T>C (n.*4510T>C)
c.230+11810T>C
c.5218T>C (p.Ser1740Pro)
c.5113T>C (p.Ser1705Pro)
c.5104T>C (p.Ser1702Pro)
c.5065T>C (p.Ser1689Pro)
c.5011T>C (p.Ser1671Pro)
c.4915T>C (p.Ser1639Pro)
c.4885T>C (p.Ser1629Pro)
c.4810T>C (p.Ser1604Pro)
c.4708T>C (p.Ser1570Pro)
c.4339T>C (p.Ser1447Pro)
 ClinVar dbSNP
5g.112840782T>GCA16032673APCc.5242T>G (p.Ser1748Ala)
c.*5194T>G (n.*5194T>G)
c.5134T>G (p.Ser1712Ala)
c.5188T>G (p.Ser1730Ala)
c.*4510T>G (n.*4510T>G)
c.230+11810T>G
c.5218T>G (p.Ser1740Ala)
c.5113T>G (p.Ser1705Ala)
c.5104T>G (p.Ser1702Ala)
c.5065T>G (p.Ser1689Ala)
c.5011T>G (p.Ser1671Ala)
c.4915T>G (p.Ser1639Ala)
c.4885T>G (p.Ser1629Ala)
c.4810T>G (p.Ser1604Ala)
c.4708T>G (p.Ser1570Ala)
c.4339T>G (p.Ser1447Ala)
5g.112840782T=CA1573474586APCc.5242T= (p.Ser1748=)
c.*5194T= (n.*5194T=)
c.5134T= (p.Ser1712=)
c.5188T= (p.Ser1730=)
c.*4510T= (n.*4510T=)
c.230+11810T=
c.5218T= (p.Ser1740=)
c.5113T= (p.Ser1705=)
c.5104T= (p.Ser1702=)
c.5065T= (p.Ser1689=)
c.5011T= (p.Ser1671=)
c.4915T= (p.Ser1639=)
c.4885T= (p.Ser1629=)
c.4810T= (p.Ser1604=)
c.4708T= (p.Ser1570=)
c.4339T= (p.Ser1447=)
5g.112840783C>ACA16032674APCc.5243C>A (p.Ser1748Tyr)
c.*5195C>A (n.*5195C>A)
c.5135C>A (p.Ser1712Tyr)
c.5189C>A (p.Ser1730Tyr)
c.*4511C>A (n.*4511C>A)
c.230+11811C>A
c.5219C>A (p.Ser1740Tyr)
c.5114C>A (p.Ser1705Tyr)
c.5105C>A (p.Ser1702Tyr)
c.5066C>A (p.Ser1689Tyr)
c.5012C>A (p.Ser1671Tyr)
c.4916C>A (p.Ser1639Tyr)
c.4886C>A (p.Ser1629Tyr)
c.4811C>A (p.Ser1604Tyr)
c.4709C>A (p.Ser1570Tyr)
c.4340C>A (p.Ser1447Tyr)
 dbSNP
5g.112840783C=CA1573474590APCc.5243C= (p.Ser1748=)
c.*5195C= (n.*5195C=)
c.5135C= (p.Ser1712=)
c.5189C= (p.Ser1730=)
c.*4511C= (n.*4511C=)
c.230+11811C=
c.5219C= (p.Ser1740=)
c.5114C= (p.Ser1705=)
c.5105C= (p.Ser1702=)
c.5066C= (p.Ser1689=)
c.5012C= (p.Ser1671=)
c.4916C= (p.Ser1639=)
c.4886C= (p.Ser1629=)
c.4811C= (p.Ser1604=)
c.4709C= (p.Ser1570=)
c.4340C= (p.Ser1447=)
5g.112840783C>GCA16032675APCc.5243C>G (p.Ser1748Cys)
c.*5195C>G (n.*5195C>G)
c.5135C>G (p.Ser1712Cys)
c.5189C>G (p.Ser1730Cys)
c.*4511C>G (n.*4511C>G)
c.230+11811C>G
c.5219C>G (p.Ser1740Cys)
c.5114C>G (p.Ser1705Cys)
c.5105C>G (p.Ser1702Cys)
c.5066C>G (p.Ser1689Cys)
c.5012C>G (p.Ser1671Cys)
c.4916C>G (p.Ser1639Cys)
c.4886C>G (p.Ser1629Cys)
c.4811C>G (p.Ser1604Cys)
c.4709C>G (p.Ser1570Cys)
c.4340C>G (p.Ser1447Cys)
 ClinVar dbSNP
5g.112840783C>TCA348937APCc.5243C>T (p.Ser1748Phe)
c.*5195C>T (n.*5195C>T)
c.5135C>T (p.Ser1712Phe)
c.5189C>T (p.Ser1730Phe)
c.*4511C>T (n.*4511C>T)
c.230+11811C>T
c.5219C>T (p.Ser1740Phe)
c.5114C>T (p.Ser1705Phe)
c.5105C>T (p.Ser1702Phe)
c.5066C>T (p.Ser1689Phe)
c.5012C>T (p.Ser1671Phe)
c.4916C>T (p.Ser1639Phe)
c.4886C>T (p.Ser1629Phe)
c.4811C>T (p.Ser1604Phe)
c.4709C>T (p.Ser1570Phe)
c.4340C>T (p.Ser1447Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840784T>ACA446209631APCc.5244T>A (p.Ser1748=)
c.*5196T>A (n.*5196T>A)
c.5136T>A (p.Ser1712=)
c.5190T>A (p.Ser1730=)
c.*4512T>A (n.*4512T>A)
c.230+11812T>A
c.5220T>A (p.Ser1740=)
c.5115T>A (p.Ser1705=)
c.5106T>A (p.Ser1702=)
c.5067T>A (p.Ser1689=)
c.5013T>A (p.Ser1671=)
c.4917T>A (p.Ser1639=)
c.4887T>A (p.Ser1629=)
c.4812T>A (p.Ser1604=)
c.4710T>A (p.Ser1570=)
c.4341T>A (p.Ser1447=)
 dbSNP
5g.112840784T>CCA446209632APCc.5244T>C (p.Ser1748=)
c.*5196T>C (n.*5196T>C)
c.5136T>C (p.Ser1712=)
c.5190T>C (p.Ser1730=)
c.*4512T>C (n.*4512T>C)
c.230+11812T>C
c.5220T>C (p.Ser1740=)
c.5115T>C (p.Ser1705=)
c.5106T>C (p.Ser1702=)
c.5067T>C (p.Ser1689=)
c.5013T>C (p.Ser1671=)
c.4917T>C (p.Ser1639=)
c.4887T>C (p.Ser1629=)
c.4812T>C (p.Ser1604=)
c.4710T>C (p.Ser1570=)
c.4341T>C (p.Ser1447=)
 dbSNP
5g.112840784T>GCA446209633APCc.5244T>G (p.Ser1748=)
c.*5196T>G (n.*5196T>G)
c.5136T>G (p.Ser1712=)
c.5190T>G (p.Ser1730=)
c.*4512T>G (n.*4512T>G)
c.230+11812T>G
c.5220T>G (p.Ser1740=)
c.5115T>G (p.Ser1705=)
c.5106T>G (p.Ser1702=)
c.5067T>G (p.Ser1689=)
c.5013T>G (p.Ser1671=)
c.4917T>G (p.Ser1639=)
c.4887T>G (p.Ser1629=)
c.4812T>G (p.Ser1604=)
c.4710T>G (p.Ser1570=)
c.4341T>G (p.Ser1447=)
5g.112840785G>ACA16032676APCc.5245G>A (p.Ala1749Thr)
c.*5197G>A (n.*5197G>A)
c.5137G>A (p.Ala1713Thr)
c.5191G>A (p.Ala1731Thr)
c.*4513G>A (n.*4513G>A)
c.230+11813G>A
c.5221G>A (p.Ala1741Thr)
c.5116G>A (p.Ala1706Thr)
c.5107G>A (p.Ala1703Thr)
c.5068G>A (p.Ala1690Thr)
c.5014G>A (p.Ala1672Thr)
c.4918G>A (p.Ala1640Thr)
c.4888G>A (p.Ala1630Thr)
c.4813G>A (p.Ala1605Thr)
c.4711G>A (p.Ala1571Thr)
c.4342G>A (p.Ala1448Thr)
 ClinVar dbSNP
5g.112840785G>CCA16032677APCc.5245G>C (p.Ala1749Pro)
c.*5197G>C (n.*5197G>C)
c.5137G>C (p.Ala1713Pro)
c.5191G>C (p.Ala1731Pro)
c.*4513G>C (n.*4513G>C)
c.230+11813G>C
c.5221G>C (p.Ala1741Pro)
c.5116G>C (p.Ala1706Pro)
c.5107G>C (p.Ala1703Pro)
c.5068G>C (p.Ala1690Pro)
c.5014G>C (p.Ala1672Pro)
c.4918G>C (p.Ala1640Pro)
c.4888G>C (p.Ala1630Pro)
c.4813G>C (p.Ala1605Pro)
c.4711G>C (p.Ala1571Pro)
c.4342G>C (p.Ala1448Pro)
 dbSNP
5g.112840785G=CA1573474601APCc.5245G= (p.Ala1749=)
c.*5197G= (n.*5197G=)
c.5137G= (p.Ala1713=)
c.5191G= (p.Ala1731=)
c.*4513G= (n.*4513G=)
c.230+11813G=
c.5221G= (p.Ala1741=)
c.5116G= (p.Ala1706=)
c.5107G= (p.Ala1703=)
c.5068G= (p.Ala1690=)
c.5014G= (p.Ala1672=)
c.4918G= (p.Ala1640=)
c.4888G= (p.Ala1630=)
c.4813G= (p.Ala1605=)
c.4711G= (p.Ala1571=)
c.4342G= (p.Ala1448=)
5g.112840785G>TCA16032678APCc.5245G>T (p.Ala1749Ser)
c.*5197G>T (n.*5197G>T)
c.5137G>T (p.Ala1713Ser)
c.5191G>T (p.Ala1731Ser)
c.*4513G>T (n.*4513G>T)
c.230+11813G>T
c.5221G>T (p.Ala1741Ser)
c.5116G>T (p.Ala1706Ser)
c.5107G>T (p.Ala1703Ser)
c.5068G>T (p.Ala1690Ser)
c.5014G>T (p.Ala1672Ser)
c.4918G>T (p.Ala1640Ser)
c.4888G>T (p.Ala1630Ser)
c.4813G>T (p.Ala1605Ser)
c.4711G>T (p.Ala1571Ser)
c.4342G>T (p.Ala1448Ser)
 ClinVar dbSNP
5g.112840786C>ACA16032679APCc.5246C>A (p.Ala1749Asp)
c.*5198C>A (n.*5198C>A)
c.5138C>A (p.Ala1713Asp)
c.5192C>A (p.Ala1731Asp)
c.*4514C>A (n.*4514C>A)
c.230+11814C>A
c.5222C>A (p.Ala1741Asp)
c.5117C>A (p.Ala1706Asp)
c.5108C>A (p.Ala1703Asp)
c.5069C>A (p.Ala1690Asp)
c.5015C>A (p.Ala1672Asp)
c.4919C>A (p.Ala1640Asp)
c.4889C>A (p.Ala1630Asp)
c.4814C>A (p.Ala1605Asp)
c.4712C>A (p.Ala1571Asp)
c.4343C>A (p.Ala1448Asp)
 dbSNP
5g.112840786C=CA1573474619APCc.5246C= (p.Ala1749=)
c.*5198C= (n.*5198C=)
c.5138C= (p.Ala1713=)
c.5192C= (p.Ala1731=)
c.*4514C= (n.*4514C=)
c.230+11814C=
c.5222C= (p.Ala1741=)
c.5117C= (p.Ala1706=)
c.5108C= (p.Ala1703=)
c.5069C= (p.Ala1690=)
c.5015C= (p.Ala1672=)
c.4919C= (p.Ala1640=)
c.4889C= (p.Ala1630=)
c.4814C= (p.Ala1605=)
c.4712C= (p.Ala1571=)
c.4343C= (p.Ala1448=)
5g.112840786C>GCA10578398APCc.5246C>G (p.Ala1749Gly)
c.*5198C>G (n.*5198C>G)
c.5138C>G (p.Ala1713Gly)
c.5192C>G (p.Ala1731Gly)
c.*4514C>G (n.*4514C>G)
c.230+11814C>G
c.5222C>G (p.Ala1741Gly)
c.5117C>G (p.Ala1706Gly)
c.5108C>G (p.Ala1703Gly)
c.5069C>G (p.Ala1690Gly)
c.5015C>G (p.Ala1672Gly)
c.4919C>G (p.Ala1640Gly)
c.4889C>G (p.Ala1630Gly)
c.4814C>G (p.Ala1605Gly)
c.4712C>G (p.Ala1571Gly)
c.4343C>G (p.Ala1448Gly)
 ClinVar dbSNP gnomAD v4
5g.112840786C>TCA16032680APCc.5246C>T (p.Ala1749Val)
c.*5198C>T (n.*5198C>T)
c.5138C>T (p.Ala1713Val)
c.5192C>T (p.Ala1731Val)
c.*4514C>T (n.*4514C>T)
c.230+11814C>T
c.5222C>T (p.Ala1741Val)
c.5117C>T (p.Ala1706Val)
c.5108C>T (p.Ala1703Val)
c.5069C>T (p.Ala1690Val)
c.5015C>T (p.Ala1672Val)
c.4919C>T (p.Ala1640Val)
c.4889C>T (p.Ala1630Val)
c.4814C>T (p.Ala1605Val)
c.4712C>T (p.Ala1571Val)
c.4343C>T (p.Ala1448Val)
 ClinVar dbSNP COSMIC
5g.112840787T>ACA446209634APCc.5247T>A (p.Ala1749=)
c.*5199T>A (n.*5199T>A)
c.5139T>A (p.Ala1713=)
c.5193T>A (p.Ala1731=)
c.*4515T>A (n.*4515T>A)
c.230+11815T>A
c.5223T>A (p.Ala1741=)
c.5118T>A (p.Ala1706=)
c.5109T>A (p.Ala1703=)
c.5070T>A (p.Ala1690=)
c.5016T>A (p.Ala1672=)
c.4920T>A (p.Ala1640=)
c.4890T>A (p.Ala1630=)
c.4815T>A (p.Ala1605=)
c.4713T>A (p.Ala1571=)
c.4344T>A (p.Ala1448=)
 dbSNP
5g.112840787T>CCA446209635APCc.5247T>C (p.Ala1749=)
c.*5199T>C (n.*5199T>C)
c.5139T>C (p.Ala1713=)
c.5193T>C (p.Ala1731=)
c.*4515T>C (n.*4515T>C)
c.230+11815T>C
c.5223T>C (p.Ala1741=)
c.5118T>C (p.Ala1706=)
c.5109T>C (p.Ala1703=)
c.5070T>C (p.Ala1690=)
c.5016T>C (p.Ala1672=)
c.4920T>C (p.Ala1640=)
c.4890T>C (p.Ala1630=)
c.4815T>C (p.Ala1605=)
c.4713T>C (p.Ala1571=)
c.4344T>C (p.Ala1448=)
 dbSNP
5g.112840787T>GCA446209636APCc.5247T>G (p.Ala1749=)
c.*5199T>G (n.*5199T>G)
c.5139T>G (p.Ala1713=)
c.5193T>G (p.Ala1731=)
c.*4515T>G (n.*4515T>G)
c.230+11815T>G
c.5223T>G (p.Ala1741=)
c.5118T>G (p.Ala1706=)
c.5109T>G (p.Ala1703=)
c.5070T>G (p.Ala1690=)
c.5016T>G (p.Ala1672=)
c.4920T>G (p.Ala1640=)
c.4890T>G (p.Ala1630=)
c.4815T>G (p.Ala1605=)
c.4713T>G (p.Ala1571=)
c.4344T>G (p.Ala1448=)
5g.112840788A=CA1573474628APCc.5248A= (p.Met1750=)
c.*5200A= (n.*5200A=)
c.5140A= (p.Met1714=)
c.5194A= (p.Met1732=)
c.*4516A= (n.*4516A=)
c.230+11816A=
c.5224A= (p.Met1742=)
c.5119A= (p.Met1707=)
c.5110A= (p.Met1704=)
c.5071A= (p.Met1691=)
c.5017A= (p.Met1673=)
c.4921A= (p.Met1641=)
c.4891A= (p.Met1631=)
c.4816A= (p.Met1606=)
c.4714A= (p.Met1572=)
c.4345A= (p.Met1449=)
5g.112840788A>CCA16032681APCc.5248A>C (p.Met1750Leu)
c.*5200A>C (n.*5200A>C)
c.5140A>C (p.Met1714Leu)
c.5194A>C (p.Met1732Leu)
c.*4516A>C (n.*4516A>C)
c.230+11816A>C
c.5224A>C (p.Met1742Leu)
c.5119A>C (p.Met1707Leu)
c.5110A>C (p.Met1704Leu)
c.5071A>C (p.Met1691Leu)
c.5017A>C (p.Met1673Leu)
c.4921A>C (p.Met1641Leu)
c.4891A>C (p.Met1631Leu)
c.4816A>C (p.Met1606Leu)
c.4714A>C (p.Met1572Leu)
c.4345A>C (p.Met1449Leu)
 dbSNP
5g.112840788A>GCA040913APCc.5248A>G (p.Met1750Val)
c.*5200A>G (n.*5200A>G)
c.5140A>G (p.Met1714Val)
c.5194A>G (p.Met1732Val)
c.*4516A>G (n.*4516A>G)
c.230+11816A>G
c.5224A>G (p.Met1742Val)
c.5119A>G (p.Met1707Val)
c.5110A>G (p.Met1704Val)
c.5071A>G (p.Met1691Val)
c.5017A>G (p.Met1673Val)
c.4921A>G (p.Met1641Val)
c.4891A>G (p.Met1631Val)
c.4816A>G (p.Met1606Val)
c.4714A>G (p.Met1572Val)
c.4345A>G (p.Met1449Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840788A>TCA16032682APCc.5248A>T (p.Met1750Leu)
c.*5200A>T (n.*5200A>T)
c.5140A>T (p.Met1714Leu)
c.5194A>T (p.Met1732Leu)
c.*4516A>T (n.*4516A>T)
c.230+11816A>T
c.5224A>T (p.Met1742Leu)
c.5119A>T (p.Met1707Leu)
c.5110A>T (p.Met1704Leu)
c.5071A>T (p.Met1691Leu)
c.5017A>T (p.Met1673Leu)
c.4921A>T (p.Met1641Leu)
c.4891A>T (p.Met1631Leu)
c.4816A>T (p.Met1606Leu)
c.4714A>T (p.Met1572Leu)
c.4345A>T (p.Met1449Leu)
 ClinVar dbSNP gnomAD v4
5g.112840789T>ACA16032683APCc.5249T>A (p.Met1750Lys)
c.*5201T>A (n.*5201T>A)
c.5141T>A (p.Met1714Lys)
c.5195T>A (p.Met1732Lys)
c.*4517T>A (n.*4517T>A)
c.230+11817T>A
c.5225T>A (p.Met1742Lys)
c.5120T>A (p.Met1707Lys)
c.5111T>A (p.Met1704Lys)
c.5072T>A (p.Met1691Lys)
c.5018T>A (p.Met1673Lys)
c.4922T>A (p.Met1641Lys)
c.4892T>A (p.Met1631Lys)
c.4817T>A (p.Met1606Lys)
c.4715T>A (p.Met1572Lys)
c.4346T>A (p.Met1449Lys)
 dbSNP
5g.112840789T>CCA16032684APCc.5249T>C (p.Met1750Thr)
c.*5201T>C (n.*5201T>C)
c.5141T>C (p.Met1714Thr)
c.5195T>C (p.Met1732Thr)
c.*4517T>C (n.*4517T>C)
c.230+11817T>C
c.5225T>C (p.Met1742Thr)
c.5120T>C (p.Met1707Thr)
c.5111T>C (p.Met1704Thr)
c.5072T>C (p.Met1691Thr)
c.5018T>C (p.Met1673Thr)
c.4922T>C (p.Met1641Thr)
c.4892T>C (p.Met1631Thr)
c.4817T>C (p.Met1606Thr)
c.4715T>C (p.Met1572Thr)
c.4346T>C (p.Met1449Thr)
 gnomAD v4
5g.112840789T>GCA16032685APCc.5249T>G (p.Met1750Arg)
c.*5201T>G (n.*5201T>G)
c.5141T>G (p.Met1714Arg)
c.5195T>G (p.Met1732Arg)
c.*4517T>G (n.*4517T>G)
c.230+11817T>G
c.5225T>G (p.Met1742Arg)
c.5120T>G (p.Met1707Arg)
c.5111T>G (p.Met1704Arg)
c.5072T>G (p.Met1691Arg)
c.5018T>G (p.Met1673Arg)
c.4922T>G (p.Met1641Arg)
c.4892T>G (p.Met1631Arg)
c.4817T>G (p.Met1606Arg)
c.4715T>G (p.Met1572Arg)
c.4346T>G (p.Met1449Arg)
5g.112840790G>ACA16032686APCc.5250G>A (p.Met1750Ile)
c.*5202G>A (n.*5202G>A)
c.5142G>A (p.Met1714Ile)
c.5196G>A (p.Met1732Ile)
c.*4518G>A (n.*4518G>A)
c.230+11818G>A
c.5226G>A (p.Met1742Ile)
c.5121G>A (p.Met1707Ile)
c.5112G>A (p.Met1704Ile)
c.5073G>A (p.Met1691Ile)
c.5019G>A (p.Met1673Ile)
c.4923G>A (p.Met1641Ile)
c.4893G>A (p.Met1631Ile)
c.4818G>A (p.Met1606Ile)
c.4716G>A (p.Met1572Ile)
c.4347G>A (p.Met1449Ile)
5g.112840790G>CCA16032687APCc.5250G>C (p.Met1750Ile)
c.*5202G>C (n.*5202G>C)
c.5142G>C (p.Met1714Ile)
c.5196G>C (p.Met1732Ile)
c.*4518G>C (n.*4518G>C)
c.230+11818G>C
c.5226G>C (p.Met1742Ile)
c.5121G>C (p.Met1707Ile)
c.5112G>C (p.Met1704Ile)
c.5073G>C (p.Met1691Ile)
c.5019G>C (p.Met1673Ile)
c.4923G>C (p.Met1641Ile)
c.4893G>C (p.Met1631Ile)
c.4818G>C (p.Met1606Ile)
c.4716G>C (p.Met1572Ile)
c.4347G>C (p.Met1449Ile)
5g.112840790G>TCA16032688APCc.5250G>T (p.Met1750Ile)
c.*5202G>T (n.*5202G>T)
c.5142G>T (p.Met1714Ile)
c.5196G>T (p.Met1732Ile)
c.*4518G>T (n.*4518G>T)
c.230+11818G>T
c.5226G>T (p.Met1742Ile)
c.5121G>T (p.Met1707Ile)
c.5112G>T (p.Met1704Ile)
c.5073G>T (p.Met1691Ile)
c.5019G>T (p.Met1673Ile)
c.4923G>T (p.Met1641Ile)
c.4893G>T (p.Met1631Ile)
c.4818G>T (p.Met1606Ile)
c.4716G>T (p.Met1572Ile)
c.4347G>T (p.Met1449Ile)
5g.112840791C>ACA16032689APCc.5251C>A (p.Pro1751Thr)
c.*5203C>A (n.*5203C>A)
c.5143C>A (p.Pro1715Thr)
c.5197C>A (p.Pro1733Thr)
c.*4519C>A (n.*4519C>A)
c.230+11819C>A
c.5227C>A (p.Pro1743Thr)
c.5122C>A (p.Pro1708Thr)
c.5113C>A (p.Pro1705Thr)
c.5074C>A (p.Pro1692Thr)
c.5020C>A (p.Pro1674Thr)
c.4924C>A (p.Pro1642Thr)
c.4894C>A (p.Pro1632Thr)
c.4819C>A (p.Pro1607Thr)
c.4717C>A (p.Pro1573Thr)
c.4348C>A (p.Pro1450Thr)
 dbSNP
5g.112840791C=CA1573474640APCc.5251C= (p.Pro1751=)
c.*5203C= (n.*5203C=)
c.5143C= (p.Pro1715=)
c.5197C= (p.Pro1733=)
c.*4519C= (n.*4519C=)
c.230+11819C=
c.5227C= (p.Pro1743=)
c.5122C= (p.Pro1708=)
c.5113C= (p.Pro1705=)
c.5074C= (p.Pro1692=)
c.5020C= (p.Pro1674=)
c.4924C= (p.Pro1642=)
c.4894C= (p.Pro1632=)
c.4819C= (p.Pro1607=)
c.4717C= (p.Pro1573=)
c.4348C= (p.Pro1450=)
5g.112840791C>GCA16032690APCc.5251C>G (p.Pro1751Ala)
c.*5203C>G (n.*5203C>G)
c.5143C>G (p.Pro1715Ala)
c.5197C>G (p.Pro1733Ala)
c.*4519C>G (n.*4519C>G)
c.230+11819C>G
c.5227C>G (p.Pro1743Ala)
c.5122C>G (p.Pro1708Ala)
c.5113C>G (p.Pro1705Ala)
c.5074C>G (p.Pro1692Ala)
c.5020C>G (p.Pro1674Ala)
c.4924C>G (p.Pro1642Ala)
c.4894C>G (p.Pro1632Ala)
c.4819C>G (p.Pro1607Ala)
c.4717C>G (p.Pro1573Ala)
c.4348C>G (p.Pro1450Ala)
 ClinVar dbSNP
5g.112840791C>TCA16032691APCc.5251C>T (p.Pro1751Ser)
c.*5203C>T (n.*5203C>T)
c.5143C>T (p.Pro1715Ser)
c.5197C>T (p.Pro1733Ser)
c.*4519C>T (n.*4519C>T)
c.230+11819C>T
c.5227C>T (p.Pro1743Ser)
c.5122C>T (p.Pro1708Ser)
c.5113C>T (p.Pro1705Ser)
c.5074C>T (p.Pro1692Ser)
c.5020C>T (p.Pro1674Ser)
c.4924C>T (p.Pro1642Ser)
c.4894C>T (p.Pro1632Ser)
c.4819C>T (p.Pro1607Ser)
c.4717C>T (p.Pro1573Ser)
c.4348C>T (p.Pro1450Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.112840792C>ACA16032692APCc.5252C>A (p.Pro1751His)
c.*5204C>A (n.*5204C>A)
c.5144C>A (p.Pro1715His)
c.5198C>A (p.Pro1733His)
c.*4520C>A (n.*4520C>A)
c.230+11820C>A
c.5228C>A (p.Pro1743His)
c.5123C>A (p.Pro1708His)
c.5114C>A (p.Pro1705His)
c.5075C>A (p.Pro1692His)
c.5021C>A (p.Pro1674His)
c.4925C>A (p.Pro1642His)
c.4895C>A (p.Pro1632His)
c.4820C>A (p.Pro1607His)
c.4718C>A (p.Pro1573His)
c.4349C>A (p.Pro1450His)
 dbSNP
5g.112840792C=CA1573474649APCc.5252C= (p.Pro1751=)
c.*5204C= (n.*5204C=)
c.5144C= (p.Pro1715=)
c.5198C= (p.Pro1733=)
c.*4520C= (n.*4520C=)
c.230+11820C=
c.5228C= (p.Pro1743=)
c.5123C= (p.Pro1708=)
c.5114C= (p.Pro1705=)
c.5075C= (p.Pro1692=)
c.5021C= (p.Pro1674=)
c.4925C= (p.Pro1642=)
c.4895C= (p.Pro1632=)
c.4820C= (p.Pro1607=)
c.4718C= (p.Pro1573=)
c.4349C= (p.Pro1450=)
5g.112840792C>GCA16032693APCc.5252C>G (p.Pro1751Arg)
c.*5204C>G (n.*5204C>G)
c.5144C>G (p.Pro1715Arg)
c.5198C>G (p.Pro1733Arg)
c.*4520C>G (n.*4520C>G)
c.230+11820C>G
c.5228C>G (p.Pro1743Arg)
c.5123C>G (p.Pro1708Arg)
c.5114C>G (p.Pro1705Arg)
c.5075C>G (p.Pro1692Arg)
c.5021C>G (p.Pro1674Arg)
c.4925C>G (p.Pro1642Arg)
c.4895C>G (p.Pro1632Arg)
c.4820C>G (p.Pro1607Arg)
c.4718C>G (p.Pro1573Arg)
c.4349C>G (p.Pro1450Arg)
 dbSNP
5g.112840792C>TCA16032694APCc.5252C>T (p.Pro1751Leu)
c.*5204C>T (n.*5204C>T)
c.5144C>T (p.Pro1715Leu)
c.5198C>T (p.Pro1733Leu)
c.*4520C>T (n.*4520C>T)
c.230+11820C>T
c.5228C>T (p.Pro1743Leu)
c.5123C>T (p.Pro1708Leu)
c.5114C>T (p.Pro1705Leu)
c.5075C>T (p.Pro1692Leu)
c.5021C>T (p.Pro1674Leu)
c.4925C>T (p.Pro1642Leu)
c.4895C>T (p.Pro1632Leu)
c.4820C>T (p.Pro1607Leu)
c.4718C>T (p.Pro1573Leu)
c.4349C>T (p.Pro1450Leu)
 ClinVar dbSNP
5g.112840793C>ACA446209637APCc.5253C>A (p.Pro1751=)
c.*5205C>A (n.*5205C>A)
c.5145C>A (p.Pro1715=)
c.5199C>A (p.Pro1733=)
c.*4521C>A (n.*4521C>A)
c.230+11821C>A
c.5229C>A (p.Pro1743=)
c.5124C>A (p.Pro1708=)
c.5115C>A (p.Pro1705=)
c.5076C>A (p.Pro1692=)
c.5022C>A (p.Pro1674=)
c.4926C>A (p.Pro1642=)
c.4896C>A (p.Pro1632=)
c.4821C>A (p.Pro1607=)
c.4719C>A (p.Pro1573=)
c.4350C>A (p.Pro1450=)
 ClinVar
5g.112840793C>GCA446209638APCc.5253C>G (p.Pro1751=)
c.*5205C>G (n.*5205C>G)
c.5145C>G (p.Pro1715=)
c.5199C>G (p.Pro1733=)
c.*4521C>G (n.*4521C>G)
c.230+11821C>G
c.5229C>G (p.Pro1743=)
c.5124C>G (p.Pro1708=)
c.5115C>G (p.Pro1705=)
c.5076C>G (p.Pro1692=)
c.5022C>G (p.Pro1674=)
c.4926C>G (p.Pro1642=)
c.4896C>G (p.Pro1632=)
c.4821C>G (p.Pro1607=)
c.4719C>G (p.Pro1573=)
c.4350C>G (p.Pro1450=)
 ClinVar
5g.112840793C>TCA446209639APCc.5253C>T (p.Pro1751=)
c.*5205C>T (n.*5205C>T)
c.5145C>T (p.Pro1715=)
c.5199C>T (p.Pro1733=)
c.*4521C>T (n.*4521C>T)
c.230+11821C>T
c.5229C>T (p.Pro1743=)
c.5124C>T (p.Pro1708=)
c.5115C>T (p.Pro1705=)
c.5076C>T (p.Pro1692=)
c.5022C>T (p.Pro1674=)
c.4926C>T (p.Pro1642=)
c.4896C>T (p.Pro1632=)
c.4821C>T (p.Pro1607=)
c.4719C>T (p.Pro1573=)
c.4350C>T (p.Pro1450=)
5g.112840794A>CCA16032695APCc.5254A>C (p.Lys1752Gln)
c.*5206A>C (n.*5206A>C)
c.5146A>C (p.Lys1716Gln)
c.5200A>C (p.Lys1734Gln)
c.*4522A>C (n.*4522A>C)
c.230+11822A>C
c.5230A>C (p.Lys1744Gln)
c.5125A>C (p.Lys1709Gln)
c.5116A>C (p.Lys1706Gln)
c.5077A>C (p.Lys1693Gln)
c.5023A>C (p.Lys1675Gln)
c.4927A>C (p.Lys1643Gln)
c.4897A>C (p.Lys1633Gln)
c.4822A>C (p.Lys1608Gln)
c.4720A>C (p.Lys1574Gln)
c.4351A>C (p.Lys1451Gln)
5g.112840794A>GCA16032696APCc.5254A>G (p.Lys1752Glu)
c.*5206A>G (n.*5206A>G)
c.5146A>G (p.Lys1716Glu)
c.5200A>G (p.Lys1734Glu)
c.*4522A>G (n.*4522A>G)
c.230+11822A>G
c.5230A>G (p.Lys1744Glu)
c.5125A>G (p.Lys1709Glu)
c.5116A>G (p.Lys1706Glu)
c.5077A>G (p.Lys1693Glu)
c.5023A>G (p.Lys1675Glu)
c.4927A>G (p.Lys1643Glu)
c.4897A>G (p.Lys1633Glu)
c.4822A>G (p.Lys1608Glu)
c.4720A>G (p.Lys1574Glu)
c.4351A>G (p.Lys1451Glu)
5g.112840794A>TCA16032697APCc.5254A>T (p.Lys1752Ter)
c.*5206A>T (n.*5206A>T)
c.5146A>T (p.Lys1716Ter)
c.5200A>T (p.Lys1734Ter)
c.*4522A>T (n.*4522A>T)
c.230+11822A>T
c.5230A>T (p.Lys1744Ter)
c.5125A>T (p.Lys1709Ter)
c.5116A>T (p.Lys1706Ter)
c.5077A>T (p.Lys1693Ter)
c.5023A>T (p.Lys1675Ter)
c.4927A>T (p.Lys1643Ter)
c.4897A>T (p.Lys1633Ter)
c.4822A>T (p.Lys1608Ter)
c.4720A>T (p.Lys1574Ter)
c.4351A>T (p.Lys1451Ter)
 dbSNP
5g.112840796delCA2582341421APCc.5256del (p.Ser1755ValfsTer7)
c.*5208del (n.*5208del)
c.5148del (p.Ser1719ValfsTer7)
c.5202del (p.Ser1737ValfsTer7)
c.*4524del (n.*4524del)
c.230+11824del
c.5232del (p.Ser1747ValfsTer7)
c.5127del (p.Ser1712ValfsTer7)
c.5118del (p.Ser1709ValfsTer7)
c.5079del (p.Ser1696ValfsTer7)
c.5025del (p.Ser1678ValfsTer7)
c.4929del (p.Ser1646ValfsTer7)
c.4899del (p.Ser1636ValfsTer7)
c.4824del (p.Ser1611ValfsTer7)
c.4722del (p.Ser1577ValfsTer7)
c.4353del (p.Ser1454ValfsTer7)
 ClinVar dbSNP
5g.112840795A=CA1573474660APCc.5255A= (p.Lys1752=)
c.*5207A= (n.*5207A=)
c.5147A= (p.Lys1716=)
c.5201A= (p.Lys1734=)
c.*4523A= (n.*4523A=)
c.230+11823A=
c.5231A= (p.Lys1744=)
c.5126A= (p.Lys1709=)
c.5117A= (p.Lys1706=)
c.5078A= (p.Lys1693=)
c.5024A= (p.Lys1675=)
c.4928A= (p.Lys1643=)
c.4898A= (p.Lys1633=)
c.4823A= (p.Lys1608=)
c.4721A= (p.Lys1574=)
c.4352A= (p.Lys1451=)
5g.112840795A>CCA16032698APCc.5255A>C (p.Lys1752Thr)
c.*5207A>C (n.*5207A>C)
c.5147A>C (p.Lys1716Thr)
c.5201A>C (p.Lys1734Thr)
c.*4523A>C (n.*4523A>C)
c.230+11823A>C
c.5231A>C (p.Lys1744Thr)
c.5126A>C (p.Lys1709Thr)
c.5117A>C (p.Lys1706Thr)
c.5078A>C (p.Lys1693Thr)
c.5024A>C (p.Lys1675Thr)
c.4928A>C (p.Lys1643Thr)
c.4898A>C (p.Lys1633Thr)
c.4823A>C (p.Lys1608Thr)
c.4721A>C (p.Lys1574Thr)
c.4352A>C (p.Lys1451Thr)
 ClinVar dbSNP
5g.112840795A>GCA16032699APCc.5255A>G (p.Lys1752Arg)
c.*5207A>G (n.*5207A>G)
c.5147A>G (p.Lys1716Arg)
c.5201A>G (p.Lys1734Arg)
c.*4523A>G (n.*4523A>G)
c.230+11823A>G
c.5231A>G (p.Lys1744Arg)
c.5126A>G (p.Lys1709Arg)
c.5117A>G (p.Lys1706Arg)
c.5078A>G (p.Lys1693Arg)
c.5024A>G (p.Lys1675Arg)
c.4928A>G (p.Lys1643Arg)
c.4898A>G (p.Lys1633Arg)
c.4823A>G (p.Lys1608Arg)
c.4721A>G (p.Lys1574Arg)
c.4352A>G (p.Lys1451Arg)
 ClinVar dbSNP gnomAD v4
5g.112840795A>TCA16032700APCc.5255A>T (p.Lys1752Ile)
c.*5207A>T (n.*5207A>T)
c.5147A>T (p.Lys1716Ile)
c.5201A>T (p.Lys1734Ile)
c.*4523A>T (n.*4523A>T)
c.230+11823A>T
c.5231A>T (p.Lys1744Ile)
c.5126A>T (p.Lys1709Ile)
c.5117A>T (p.Lys1706Ile)
c.5078A>T (p.Lys1693Ile)
c.5024A>T (p.Lys1675Ile)
c.4928A>T (p.Lys1643Ile)
c.4898A>T (p.Lys1633Ile)
c.4823A>T (p.Lys1608Ile)
c.4721A>T (p.Lys1574Ile)
c.4352A>T (p.Lys1451Ile)
 dbSNP
5g.112840795_112840796delinsAACA1573474666APCc.5255_5256delinsAA (p.Lys1752=)
c.*5207_*5208delinsAA (n.*5207_*5208delinsAA)
c.5147_5148delinsAA (p.Lys1716=)
c.5201_5202delinsAA (p.Lys1734=)
c.*4523_*4524delinsAA (n.*4523_*4524delinsAA)
c.230+11823_230+11824delinsAA
c.5231_5232delinsAA (p.Lys1744=)
c.5126_5127delinsAA (p.Lys1709=)
c.5117_5118delinsAA (p.Lys1706=)
c.5078_5079delinsAA (p.Lys1693=)
c.5024_5025delinsAA (p.Lys1675=)
c.4928_4929delinsAA (p.Lys1643=)
c.4898_4899delinsAA (p.Lys1633=)
c.4823_4824delinsAA (p.Lys1608=)
c.4721_4722delinsAA (p.Lys1574=)
c.4352_4353delinsAA (p.Lys1451=)
5g.112840795_112840796delinsGTCA1573474669APCc.5255_5256delinsGT (p.Lys1752Ser)
c.*5207_*5208delinsGT (n.*5207_*5208delinsGT)
c.5147_5148delinsGT (p.Lys1716Ser)
c.5201_5202delinsGT (p.Lys1734Ser)
c.*4523_*4524delinsGT (n.*4523_*4524delinsGT)
c.230+11823_230+11824delinsGT
c.5231_5232delinsGT (p.Lys1744Ser)
c.5126_5127delinsGT (p.Lys1709Ser)
c.5117_5118delinsGT (p.Lys1706Ser)
c.5078_5079delinsGT (p.Lys1693Ser)
c.5024_5025delinsGT (p.Lys1675Ser)
c.4928_4929delinsGT (p.Lys1643Ser)
c.4898_4899delinsGT (p.Lys1633Ser)
c.4823_4824delinsGT (p.Lys1608Ser)
c.4721_4722delinsGT (p.Lys1574Ser)
c.4352_4353delinsGT (p.Lys1451Ser)
 ClinVar dbSNP
5g.112840796A=CA1573474672APCc.5256A= (p.Lys1752=)
c.*5208A= (n.*5208A=)
c.5148A= (p.Lys1716=)
c.5202A= (p.Lys1734=)
c.*4524A= (n.*4524A=)
c.230+11824A=
c.5232A= (p.Lys1744=)
c.5127A= (p.Lys1709=)
c.5118A= (p.Lys1706=)
c.5079A= (p.Lys1693=)
c.5025A= (p.Lys1675=)
c.4929A= (p.Lys1643=)
c.4899A= (p.Lys1633=)
c.4824A= (p.Lys1608=)
c.4722A= (p.Lys1574=)
c.4353A= (p.Lys1451=)
5g.112840796A>CCA16032701APCc.5256A>C (p.Lys1752Asn)
c.*5208A>C (n.*5208A>C)
c.5148A>C (p.Lys1716Asn)
c.5202A>C (p.Lys1734Asn)
c.*4524A>C (n.*4524A>C)
c.230+11824A>C
c.5232A>C (p.Lys1744Asn)
c.5127A>C (p.Lys1709Asn)
c.5118A>C (p.Lys1706Asn)
c.5079A>C (p.Lys1693Asn)
c.5025A>C (p.Lys1675Asn)
c.4929A>C (p.Lys1643Asn)
c.4899A>C (p.Lys1633Asn)
c.4824A>C (p.Lys1608Asn)
c.4722A>C (p.Lys1574Asn)
c.4353A>C (p.Lys1451Asn)
 ClinVar dbSNP gnomAD v4
5g.112840796A>GCA446209640APCc.5256A>G (p.Lys1752=)
c.*5208A>G (n.*5208A>G)
c.5148A>G (p.Lys1716=)
c.5202A>G (p.Lys1734=)
c.*4524A>G (n.*4524A>G)
c.230+11824A>G
c.5232A>G (p.Lys1744=)
c.5127A>G (p.Lys1709=)
c.5118A>G (p.Lys1706=)
c.5079A>G (p.Lys1693=)
c.5025A>G (p.Lys1675=)
c.4929A>G (p.Lys1643=)
c.4899A>G (p.Lys1633=)
c.4824A>G (p.Lys1608=)
c.4722A>G (p.Lys1574=)
c.4353A>G (p.Lys1451=)
 ClinVar dbSNP
5g.112840796A>TCA16032702APCc.5256A>T (p.Lys1752Asn)
c.*5208A>T (n.*5208A>T)
c.5148A>T (p.Lys1716Asn)
c.5202A>T (p.Lys1734Asn)
c.*4524A>T (n.*4524A>T)
c.230+11824A>T
c.5232A>T (p.Lys1744Asn)
c.5127A>T (p.Lys1709Asn)
c.5118A>T (p.Lys1706Asn)
c.5079A>T (p.Lys1693Asn)
c.5025A>T (p.Lys1675Asn)
c.4929A>T (p.Lys1643Asn)
c.4899A>T (p.Lys1633Asn)
c.4824A>T (p.Lys1608Asn)
c.4722A>T (p.Lys1574Asn)
c.4353A>T (p.Lys1451Asn)
 dbSNP
5g.112840797G>ACA16032703APCc.5257G>A (p.Gly1753Arg)
c.*5209G>A (n.*5209G>A)
c.5149G>A (p.Gly1717Arg)
c.5203G>A (p.Gly1735Arg)
c.*4525G>A (n.*4525G>A)
c.230+11825G>A
c.5233G>A (p.Gly1745Arg)
c.5128G>A (p.Gly1710Arg)
c.5119G>A (p.Gly1707Arg)
c.5080G>A (p.Gly1694Arg)
c.5026G>A (p.Gly1676Arg)
c.4930G>A (p.Gly1644Arg)
c.4900G>A (p.Gly1634Arg)
c.4825G>A (p.Gly1609Arg)
c.4723G>A (p.Gly1575Arg)
c.4354G>A (p.Gly1452Arg)
 ClinVar dbSNP
5g.112840797G>CCA16032704APCc.5257G>C (p.Gly1753Arg)
c.*5209G>C (n.*5209G>C)
c.5149G>C (p.Gly1717Arg)
c.5203G>C (p.Gly1735Arg)
c.*4525G>C (n.*4525G>C)
c.230+11825G>C
c.5233G>C (p.Gly1745Arg)
c.5128G>C (p.Gly1710Arg)
c.5119G>C (p.Gly1707Arg)
c.5080G>C (p.Gly1694Arg)
c.5026G>C (p.Gly1676Arg)
c.4930G>C (p.Gly1644Arg)
c.4900G>C (p.Gly1634Arg)
c.4825G>C (p.Gly1609Arg)
c.4723G>C (p.Gly1575Arg)
c.4354G>C (p.Gly1452Arg)
 ClinVar dbSNP
5g.112840797G=CA1573474676APCc.5257G= (p.Gly1753=)
c.*5209G= (n.*5209G=)
c.5149G= (p.Gly1717=)
c.5203G= (p.Gly1735=)
c.*4525G= (n.*4525G=)
c.230+11825G=
c.5233G= (p.Gly1745=)
c.5128G= (p.Gly1710=)
c.5119G= (p.Gly1707=)
c.5080G= (p.Gly1694=)
c.5026G= (p.Gly1676=)
c.4930G= (p.Gly1644=)
c.4900G= (p.Gly1634=)
c.4825G= (p.Gly1609=)
c.4723G= (p.Gly1575=)
c.4354G= (p.Gly1452=)
5g.112840797G>TCA16032705APCc.5257G>T (p.Gly1753Trp)
c.*5209G>T (n.*5209G>T)
c.5149G>T (p.Gly1717Trp)
c.5203G>T (p.Gly1735Trp)
c.*4525G>T (n.*4525G>T)
c.230+11825G>T
c.5233G>T (p.Gly1745Trp)
c.5128G>T (p.Gly1710Trp)
c.5119G>T (p.Gly1707Trp)
c.5080G>T (p.Gly1694Trp)
c.5026G>T (p.Gly1676Trp)
c.4930G>T (p.Gly1644Trp)
c.4900G>T (p.Gly1634Trp)
c.4825G>T (p.Gly1609Trp)
c.4723G>T (p.Gly1575Trp)
c.4354G>T (p.Gly1452Trp)
5g.112840798G>ACA16032706APCc.5258G>A (p.Gly1753Glu)
c.*5210G>A (n.*5210G>A)
c.5150G>A (p.Gly1717Glu)
c.5204G>A (p.Gly1735Glu)
c.*4526G>A (n.*4526G>A)
c.230+11826G>A
c.5234G>A (p.Gly1745Glu)
c.5129G>A (p.Gly1710Glu)
c.5120G>A (p.Gly1707Glu)
c.5081G>A (p.Gly1694Glu)
c.5027G>A (p.Gly1676Glu)
c.4931G>A (p.Gly1644Glu)
c.4901G>A (p.Gly1634Glu)
c.4826G>A (p.Gly1609Glu)
c.4724G>A (p.Gly1575Glu)
c.4355G>A (p.Gly1452Glu)
 dbSNP
5g.112840798G>CCA16032707APCc.5258G>C (p.Gly1753Ala)
c.*5210G>C (n.*5210G>C)
c.5150G>C (p.Gly1717Ala)
c.5204G>C (p.Gly1735Ala)
c.*4526G>C (n.*4526G>C)
c.230+11826G>C
c.5234G>C (p.Gly1745Ala)
c.5129G>C (p.Gly1710Ala)
c.5120G>C (p.Gly1707Ala)
c.5081G>C (p.Gly1694Ala)
c.5027G>C (p.Gly1676Ala)
c.4931G>C (p.Gly1644Ala)
c.4901G>C (p.Gly1634Ala)
c.4826G>C (p.Gly1609Ala)
c.4724G>C (p.Gly1575Ala)
c.4355G>C (p.Gly1452Ala)
 dbSNP
5g.112840798G>TCA16032708APCc.5258G>T (p.Gly1753Val)
c.*5210G>T (n.*5210G>T)
c.5150G>T (p.Gly1717Val)
c.5204G>T (p.Gly1735Val)
c.*4526G>T (n.*4526G>T)
c.230+11826G>T
c.5234G>T (p.Gly1745Val)
c.5129G>T (p.Gly1710Val)
c.5120G>T (p.Gly1707Val)
c.5081G>T (p.Gly1694Val)
c.5027G>T (p.Gly1676Val)
c.4931G>T (p.Gly1644Val)
c.4901G>T (p.Gly1634Val)
c.4826G>T (p.Gly1609Val)
c.4724G>T (p.Gly1575Val)
c.4355G>T (p.Gly1452Val)
 dbSNP
5g.112840799G>ACA446209641APCc.5259G>A (p.Gly1753=)
c.*5211G>A (n.*5211G>A)
c.5151G>A (p.Gly1717=)
c.5205G>A (p.Gly1735=)
c.*4527G>A (n.*4527G>A)
c.230+11827G>A
c.5235G>A (p.Gly1745=)
c.5130G>A (p.Gly1710=)
c.5121G>A (p.Gly1707=)
c.5082G>A (p.Gly1694=)
c.5028G>A (p.Gly1676=)
c.4932G>A (p.Gly1644=)
c.4902G>A (p.Gly1634=)
c.4827G>A (p.Gly1609=)
c.4725G>A (p.Gly1575=)
c.4356G>A (p.Gly1452=)
5g.112840799G>CCA446209642APCc.5259G>C (p.Gly1753=)
c.*5211G>C (n.*5211G>C)
c.5151G>C (p.Gly1717=)
c.5205G>C (p.Gly1735=)
c.*4527G>C (n.*4527G>C)
c.230+11827G>C
c.5235G>C (p.Gly1745=)
c.5130G>C (p.Gly1710=)
c.5121G>C (p.Gly1707=)
c.5082G>C (p.Gly1694=)
c.5028G>C (p.Gly1676=)
c.4932G>C (p.Gly1644=)
c.4902G>C (p.Gly1634=)
c.4827G>C (p.Gly1609=)
c.4725G>C (p.Gly1575=)
c.4356G>C (p.Gly1452=)
 ClinVar dbSNP
5g.112840799G=CA1573474685APCc.5259G= (p.Gly1753=)
c.*5211G= (n.*5211G=)
c.5151G= (p.Gly1717=)
c.5205G= (p.Gly1735=)
c.*4527G= (n.*4527G=)
c.230+11827G=
c.5235G= (p.Gly1745=)
c.5130G= (p.Gly1710=)
c.5121G= (p.Gly1707=)
c.5082G= (p.Gly1694=)
c.5028G= (p.Gly1676=)
c.4932G= (p.Gly1644=)
c.4902G= (p.Gly1634=)
c.4827G= (p.Gly1609=)
c.4725G= (p.Gly1575=)
c.4356G= (p.Gly1452=)
5g.112840799G>TCA446209643APCc.5259G>T (p.Gly1753=)
c.*5211G>T (n.*5211G>T)
c.5151G>T (p.Gly1717=)
c.5205G>T (p.Gly1735=)
c.*4527G>T (n.*4527G>T)
c.230+11827G>T
c.5235G>T (p.Gly1745=)
c.5130G>T (p.Gly1710=)
c.5121G>T (p.Gly1707=)
c.5082G>T (p.Gly1694=)
c.5028G>T (p.Gly1676=)
c.4932G>T (p.Gly1644=)
c.4902G>T (p.Gly1634=)
c.4827G>T (p.Gly1609=)
c.4725G>T (p.Gly1575=)
c.4356G>T (p.Gly1452=)
 ClinVar
5g.112840800A>CCA16032709APCc.5260A>C (p.Lys1754Gln)
c.*5212A>C (n.*5212A>C)
c.5152A>C (p.Lys1718Gln)
c.5206A>C (p.Lys1736Gln)
c.*4528A>C (n.*4528A>C)
c.230+11828A>C
c.5236A>C (p.Lys1746Gln)
c.5131A>C (p.Lys1711Gln)
c.5122A>C (p.Lys1708Gln)
c.5083A>C (p.Lys1695Gln)
c.5029A>C (p.Lys1677Gln)
c.4933A>C (p.Lys1645Gln)
c.4903A>C (p.Lys1635Gln)
c.4828A>C (p.Lys1610Gln)
c.4726A>C (p.Lys1576Gln)
c.4357A>C (p.Lys1453Gln)
 dbSNP
5g.112840800A>GCA16032710APCc.5260A>G (p.Lys1754Glu)
c.*5212A>G (n.*5212A>G)
c.5152A>G (p.Lys1718Glu)
c.5206A>G (p.Lys1736Glu)
c.*4528A>G (n.*4528A>G)
c.230+11828A>G
c.5236A>G (p.Lys1746Glu)
c.5131A>G (p.Lys1711Glu)
c.5122A>G (p.Lys1708Glu)
c.5083A>G (p.Lys1695Glu)
c.5029A>G (p.Lys1677Glu)
c.4933A>G (p.Lys1645Glu)
c.4903A>G (p.Lys1635Glu)
c.4828A>G (p.Lys1610Glu)
c.4726A>G (p.Lys1576Glu)
c.4357A>G (p.Lys1453Glu)
 dbSNP
5g.112840800A>TCA16032711APCc.5260A>T (p.Lys1754Ter)
c.*5212A>T (n.*5212A>T)
c.5152A>T (p.Lys1718Ter)
c.5206A>T (p.Lys1736Ter)
c.*4528A>T (n.*4528A>T)
c.230+11828A>T
c.5236A>T (p.Lys1746Ter)
c.5131A>T (p.Lys1711Ter)
c.5122A>T (p.Lys1708Ter)
c.5083A>T (p.Lys1695Ter)
c.5029A>T (p.Lys1677Ter)
c.4933A>T (p.Lys1645Ter)
c.4903A>T (p.Lys1635Ter)
c.4828A>T (p.Lys1610Ter)
c.4726A>T (p.Lys1576Ter)
c.4357A>T (p.Lys1453Ter)
 dbSNP
5g.112840801A=CA1573474705APCc.5261A= (p.Lys1754=)
c.*5213A= (n.*5213A=)
c.5153A= (p.Lys1718=)
c.5207A= (p.Lys1736=)
c.*4529A= (n.*4529A=)
c.230+11829A=
c.5237A= (p.Lys1746=)
c.5132A= (p.Lys1711=)
c.5123A= (p.Lys1708=)
c.5084A= (p.Lys1695=)
c.5030A= (p.Lys1677=)
c.4934A= (p.Lys1645=)
c.4904A= (p.Lys1635=)
c.4829A= (p.Lys1610=)
c.4727A= (p.Lys1576=)
c.4358A= (p.Lys1453=)
5g.112840801A>CCA16032712APCc.5261A>C (p.Lys1754Thr)
c.*5213A>C (n.*5213A>C)
c.5153A>C (p.Lys1718Thr)
c.5207A>C (p.Lys1736Thr)
c.*4529A>C (n.*4529A>C)
c.230+11829A>C
c.5237A>C (p.Lys1746Thr)
c.5132A>C (p.Lys1711Thr)
c.5123A>C (p.Lys1708Thr)
c.5084A>C (p.Lys1695Thr)
c.5030A>C (p.Lys1677Thr)
c.4934A>C (p.Lys1645Thr)
c.4904A>C (p.Lys1635Thr)
c.4829A>C (p.Lys1610Thr)
c.4727A>C (p.Lys1576Thr)
c.4358A>C (p.Lys1453Thr)
 dbSNP gnomAD v4
5g.112840801A>GCA335671APCc.5261A>G (p.Lys1754Arg)
c.*5213A>G (n.*5213A>G)
c.5153A>G (p.Lys1718Arg)
c.5207A>G (p.Lys1736Arg)
c.*4529A>G (n.*4529A>G)
c.230+11829A>G
c.5237A>G (p.Lys1746Arg)
c.5132A>G (p.Lys1711Arg)
c.5123A>G (p.Lys1708Arg)
c.5084A>G (p.Lys1695Arg)
c.5030A>G (p.Lys1677Arg)
c.4934A>G (p.Lys1645Arg)
c.4904A>G (p.Lys1635Arg)
c.4829A>G (p.Lys1610Arg)
c.4727A>G (p.Lys1576Arg)
c.4358A>G (p.Lys1453Arg)
 ClinVar dbSNP
5g.112840801A>TCA16032713APCc.5261A>T (p.Lys1754Ile)
c.*5213A>T (n.*5213A>T)
c.5153A>T (p.Lys1718Ile)
c.5207A>T (p.Lys1736Ile)
c.*4529A>T (n.*4529A>T)
c.230+11829A>T
c.5237A>T (p.Lys1746Ile)
c.5132A>T (p.Lys1711Ile)
c.5123A>T (p.Lys1708Ile)
c.5084A>T (p.Lys1695Ile)
c.5030A>T (p.Lys1677Ile)
c.4934A>T (p.Lys1645Ile)
c.4904A>T (p.Lys1635Ile)
c.4829A>T (p.Lys1610Ile)
c.4727A>T (p.Lys1576Ile)
c.4358A>T (p.Lys1453Ile)
 dbSNP
5g.112840802A=CA1573474725APCc.5262A= (p.Lys1754=)
c.*5214A= (n.*5214A=)
c.5154A= (p.Lys1718=)
c.5208A= (p.Lys1736=)
c.*4530A= (n.*4530A=)
c.230+11830A=
c.5238A= (p.Lys1746=)
c.5133A= (p.Lys1711=)
c.5124A= (p.Lys1708=)
c.5085A= (p.Lys1695=)
c.5031A= (p.Lys1677=)
c.4935A= (p.Lys1645=)
c.4905A= (p.Lys1635=)
c.4830A= (p.Lys1610=)
c.4728A= (p.Lys1576=)
c.4359A= (p.Lys1453=)
5g.112840802A>CCA16032714APCc.5262A>C (p.Lys1754Asn)
c.*5214A>C (n.*5214A>C)
c.5154A>C (p.Lys1718Asn)
c.5208A>C (p.Lys1736Asn)
c.*4530A>C (n.*4530A>C)
c.230+11830A>C
c.5238A>C (p.Lys1746Asn)
c.5133A>C (p.Lys1711Asn)
c.5124A>C (p.Lys1708Asn)
c.5085A>C (p.Lys1695Asn)
c.5031A>C (p.Lys1677Asn)
c.4935A>C (p.Lys1645Asn)
c.4905A>C (p.Lys1635Asn)
c.4830A>C (p.Lys1610Asn)
c.4728A>C (p.Lys1576Asn)
c.4359A>C (p.Lys1453Asn)
 ClinVar dbSNP
5g.112840802A>GCA040955APCc.5262A>G (p.Lys1754=)
c.*5214A>G (n.*5214A>G)
c.5154A>G (p.Lys1718=)
c.5208A>G (p.Lys1736=)
c.*4530A>G (n.*4530A>G)
c.230+11830A>G
c.5238A>G (p.Lys1746=)
c.5133A>G (p.Lys1711=)
c.5124A>G (p.Lys1708=)
c.5085A>G (p.Lys1695=)
c.5031A>G (p.Lys1677=)
c.4935A>G (p.Lys1645=)
c.4905A>G (p.Lys1635=)
c.4830A>G (p.Lys1610=)
c.4728A>G (p.Lys1576=)
c.4359A>G (p.Lys1453=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840802A>TCA16032715APCc.5262A>T (p.Lys1754Asn)
c.*5214A>T (n.*5214A>T)
c.5154A>T (p.Lys1718Asn)
c.5208A>T (p.Lys1736Asn)
c.*4530A>T (n.*4530A>T)
c.230+11830A>T
c.5238A>T (p.Lys1746Asn)
c.5133A>T (p.Lys1711Asn)
c.5124A>T (p.Lys1708Asn)
c.5085A>T (p.Lys1695Asn)
c.5031A>T (p.Lys1677Asn)
c.4935A>T (p.Lys1645Asn)
c.4905A>T (p.Lys1635Asn)
c.4830A>T (p.Lys1610Asn)
c.4728A>T (p.Lys1576Asn)
c.4359A>T (p.Lys1453Asn)
 dbSNP
5g.112840803A>CCA16032716APCc.5263A>C (p.Ser1755Arg)
c.*5215A>C (n.*5215A>C)
c.5155A>C (p.Ser1719Arg)
c.5209A>C (p.Ser1737Arg)
c.*4531A>C (n.*4531A>C)
c.230+11831A>C
c.5239A>C (p.Ser1747Arg)
c.5134A>C (p.Ser1712Arg)
c.5125A>C (p.Ser1709Arg)
c.5086A>C (p.Ser1696Arg)
c.5032A>C (p.Ser1678Arg)
c.4936A>C (p.Ser1646Arg)
c.4906A>C (p.Ser1636Arg)
c.4831A>C (p.Ser1611Arg)
c.4729A>C (p.Ser1577Arg)
c.4360A>C (p.Ser1454Arg)
5g.112840803A>GCA16032717APCc.5263A>G (p.Ser1755Gly)
c.*5215A>G (n.*5215A>G)
c.5155A>G (p.Ser1719Gly)
c.5209A>G (p.Ser1737Gly)
c.*4531A>G (n.*4531A>G)
c.230+11831A>G
c.5239A>G (p.Ser1747Gly)
c.5134A>G (p.Ser1712Gly)
c.5125A>G (p.Ser1709Gly)
c.5086A>G (p.Ser1696Gly)
c.5032A>G (p.Ser1678Gly)
c.4936A>G (p.Ser1646Gly)
c.4906A>G (p.Ser1636Gly)
c.4831A>G (p.Ser1611Gly)
c.4729A>G (p.Ser1577Gly)
c.4360A>G (p.Ser1454Gly)
 dbSNP
5g.112840803A>TCA16032718APCc.5263A>T (p.Ser1755Cys)
c.*5215A>T (n.*5215A>T)
c.5155A>T (p.Ser1719Cys)
c.5209A>T (p.Ser1737Cys)
c.*4531A>T (n.*4531A>T)
c.230+11831A>T
c.5239A>T (p.Ser1747Cys)
c.5134A>T (p.Ser1712Cys)
c.5125A>T (p.Ser1709Cys)
c.5086A>T (p.Ser1696Cys)
c.5032A>T (p.Ser1678Cys)
c.4936A>T (p.Ser1646Cys)
c.4906A>T (p.Ser1636Cys)
c.4831A>T (p.Ser1611Cys)
c.4729A>T (p.Ser1577Cys)
c.4360A>T (p.Ser1454Cys)
 dbSNP
5g.112840804G>ACA16032719APCc.5264G>A (p.Ser1755Asn)
c.*5216G>A (n.*5216G>A)
c.5156G>A (p.Ser1719Asn)
c.5210G>A (p.Ser1737Asn)
c.*4532G>A (n.*4532G>A)
c.230+11832G>A
c.5240G>A (p.Ser1747Asn)
c.5135G>A (p.Ser1712Asn)
c.5126G>A (p.Ser1709Asn)
c.5087G>A (p.Ser1696Asn)
c.5033G>A (p.Ser1678Asn)
c.4937G>A (p.Ser1646Asn)
c.4907G>A (p.Ser1636Asn)
c.4832G>A (p.Ser1611Asn)
c.4730G>A (p.Ser1577Asn)
c.4361G>A (p.Ser1454Asn)
 ClinVar dbSNP
5g.112840804G>CCA16032720APCc.5264G>C (p.Ser1755Thr)
c.*5216G>C (n.*5216G>C)
c.5156G>C (p.Ser1719Thr)
c.5210G>C (p.Ser1737Thr)
c.*4532G>C (n.*4532G>C)
c.230+11832G>C
c.5240G>C (p.Ser1747Thr)
c.5135G>C (p.Ser1712Thr)
c.5126G>C (p.Ser1709Thr)
c.5087G>C (p.Ser1696Thr)
c.5033G>C (p.Ser1678Thr)
c.4937G>C (p.Ser1646Thr)
c.4907G>C (p.Ser1636Thr)
c.4832G>C (p.Ser1611Thr)
c.4730G>C (p.Ser1577Thr)
c.4361G>C (p.Ser1454Thr)
 ClinVar dbSNP
5g.112840804G=CA1573474740APCc.5264G= (p.Ser1755=)
c.*5216G= (n.*5216G=)
c.5156G= (p.Ser1719=)
c.5210G= (p.Ser1737=)
c.*4532G= (n.*4532G=)
c.230+11832G=
c.5240G= (p.Ser1747=)
c.5135G= (p.Ser1712=)
c.5126G= (p.Ser1709=)
c.5087G= (p.Ser1696=)
c.5033G= (p.Ser1678=)
c.4937G= (p.Ser1646=)
c.4907G= (p.Ser1636=)
c.4832G= (p.Ser1611=)
c.4730G= (p.Ser1577=)
c.4361G= (p.Ser1454=)
5g.112840804G>TCA16032721APCc.5264G>T (p.Ser1755Ile)
c.*5216G>T (n.*5216G>T)
c.5156G>T (p.Ser1719Ile)
c.5210G>T (p.Ser1737Ile)
c.*4532G>T (n.*4532G>T)
c.230+11832G>T
c.5240G>T (p.Ser1747Ile)
c.5135G>T (p.Ser1712Ile)
c.5126G>T (p.Ser1709Ile)
c.5087G>T (p.Ser1696Ile)
c.5033G>T (p.Ser1678Ile)
c.4937G>T (p.Ser1646Ile)
c.4907G>T (p.Ser1636Ile)
c.4832G>T (p.Ser1611Ile)
c.4730G>T (p.Ser1577Ile)
c.4361G>T (p.Ser1454Ile)
 ClinVar dbSNP gnomAD v4
5g.112840805T>ACA16032722APCc.5265T>A (p.Ser1755Arg)
c.*5217T>A (n.*5217T>A)
c.5157T>A (p.Ser1719Arg)
c.5211T>A (p.Ser1737Arg)
c.*4533T>A (n.*4533T>A)
c.230+11833T>A
c.5241T>A (p.Ser1747Arg)
c.5136T>A (p.Ser1712Arg)
c.5127T>A (p.Ser1709Arg)
c.5088T>A (p.Ser1696Arg)
c.5034T>A (p.Ser1678Arg)
c.4938T>A (p.Ser1646Arg)
c.4908T>A (p.Ser1636Arg)
c.4833T>A (p.Ser1611Arg)
c.4731T>A (p.Ser1577Arg)
c.4362T>A (p.Ser1454Arg)
 dbSNP
5g.112840805T>CCA446209644APCc.5265T>C (p.Ser1755=)
c.*5217T>C (n.*5217T>C)
c.5157T>C (p.Ser1719=)
c.5211T>C (p.Ser1737=)
c.*4533T>C (n.*4533T>C)
c.230+11833T>C
c.5241T>C (p.Ser1747=)
c.5136T>C (p.Ser1712=)
c.5127T>C (p.Ser1709=)
c.5088T>C (p.Ser1696=)
c.5034T>C (p.Ser1678=)
c.4938T>C (p.Ser1646=)
c.4908T>C (p.Ser1636=)
c.4833T>C (p.Ser1611=)
c.4731T>C (p.Ser1577=)
c.4362T>C (p.Ser1454=)
 dbSNP
5g.112840805T>GCA16032723APCc.5265T>G (p.Ser1755Arg)
c.*5217T>G (n.*5217T>G)
c.5157T>G (p.Ser1719Arg)
c.5211T>G (p.Ser1737Arg)
c.*4533T>G (n.*4533T>G)
c.230+11833T>G
c.5241T>G (p.Ser1747Arg)
c.5136T>G (p.Ser1712Arg)
c.5127T>G (p.Ser1709Arg)
c.5088T>G (p.Ser1696Arg)
c.5034T>G (p.Ser1678Arg)
c.4938T>G (p.Ser1646Arg)
c.4908T>G (p.Ser1636Arg)
c.4833T>G (p.Ser1611Arg)
c.4731T>G (p.Ser1577Arg)
c.4362T>G (p.Ser1454Arg)
 dbSNP gnomAD v4
5g.112840805T=CA1573474743APCc.5265T= (p.Ser1755=)
c.*5217T= (n.*5217T=)
c.5157T= (p.Ser1719=)
c.5211T= (p.Ser1737=)
c.*4533T= (n.*4533T=)
c.230+11833T=
c.5241T= (p.Ser1747=)
c.5136T= (p.Ser1712=)
c.5127T= (p.Ser1709=)
c.5088T= (p.Ser1696=)
c.5034T= (p.Ser1678=)
c.4938T= (p.Ser1646=)
c.4908T= (p.Ser1636=)
c.4833T= (p.Ser1611=)
c.4731T= (p.Ser1577=)
c.4362T= (p.Ser1454=)
5g.112840806C>ACA16032724APCc.5266C>A (p.His1756Asn)
c.*5218C>A (n.*5218C>A)
c.5158C>A (p.His1720Asn)
c.5212C>A (p.His1738Asn)
c.*4534C>A (n.*4534C>A)
c.230+11834C>A
c.5242C>A (p.His1748Asn)
c.5137C>A (p.His1713Asn)
c.5128C>A (p.His1710Asn)
c.5089C>A (p.His1697Asn)
c.5035C>A (p.His1679Asn)
c.4939C>A (p.His1647Asn)
c.4909C>A (p.His1637Asn)
c.4834C>A (p.His1612Asn)
c.4732C>A (p.His1578Asn)
c.4363C>A (p.His1455Asn)
 dbSNP gnomAD v4
5g.112840806C=CA1573474752APCc.5266C= (p.His1756=)
c.*5218C= (n.*5218C=)
c.5158C= (p.His1720=)
c.5212C= (p.His1738=)
c.*4534C= (n.*4534C=)
c.230+11834C=
c.5242C= (p.His1748=)
c.5137C= (p.His1713=)
c.5128C= (p.His1710=)
c.5089C= (p.His1697=)
c.5035C= (p.His1679=)
c.4939C= (p.His1647=)
c.4909C= (p.His1637=)
c.4834C= (p.His1612=)
c.4732C= (p.His1578=)
c.4363C= (p.His1455=)
5g.112840806C>GCA16032725APCc.5266C>G (p.His1756Asp)
c.*5218C>G (n.*5218C>G)
c.5158C>G (p.His1720Asp)
c.5212C>G (p.His1738Asp)
c.*4534C>G (n.*4534C>G)
c.230+11834C>G
c.5242C>G (p.His1748Asp)
c.5137C>G (p.His1713Asp)
c.5128C>G (p.His1710Asp)
c.5089C>G (p.His1697Asp)
c.5035C>G (p.His1679Asp)
c.4939C>G (p.His1647Asp)
c.4909C>G (p.His1637Asp)
c.4834C>G (p.His1612Asp)
c.4732C>G (p.His1578Asp)
c.4363C>G (p.His1455Asp)
 ClinVar dbSNP
5g.112840806C>TCA16032726APCc.5266C>T (p.His1756Tyr)
c.*5218C>T (n.*5218C>T)
c.5158C>T (p.His1720Tyr)
c.5212C>T (p.His1738Tyr)
c.*4534C>T (n.*4534C>T)
c.230+11834C>T
c.5242C>T (p.His1748Tyr)
c.5137C>T (p.His1713Tyr)
c.5128C>T (p.His1710Tyr)
c.5089C>T (p.His1697Tyr)
c.5035C>T (p.His1679Tyr)
c.4939C>T (p.His1647Tyr)
c.4909C>T (p.His1637Tyr)
c.4834C>T (p.His1612Tyr)
c.4732C>T (p.His1578Tyr)
c.4363C>T (p.His1455Tyr)
 ClinVar dbSNP gnomAD v4
5g.112840808_112840809delCA1139771098APCc.5268_5269del (p.His1756GlnfsTer30)
c.*5220_*5221del (n.*5220_*5221del)
c.5160_5161del (p.His1720GlnfsTer30)
c.5214_5215del (p.His1738GlnfsTer30)
c.*4536_*4537del (n.*4536_*4537del)
c.230+11836_230+11837del
c.5244_5245del (p.His1748GlnfsTer30)
c.5139_5140del (p.His1713GlnfsTer30)
c.5130_5131del (p.His1710GlnfsTer30)
c.5091_5092del (p.His1697GlnfsTer30)
c.5037_5038del (p.His1679GlnfsTer30)
c.4941_4942del (p.His1647GlnfsTer30)
c.4911_4912del (p.His1637GlnfsTer30)
c.4836_4837del (p.His1612GlnfsTer30)
c.4734_4735del (p.His1578GlnfsTer30)
c.4365_4366del (p.His1455GlnfsTer30)
 ClinVar dbSNP
5g.112840807A=CA1573474765APCc.5267A= (p.His1756=)
c.*5219A= (n.*5219A=)
c.5159A= (p.His1720=)
c.5213A= (p.His1738=)
c.*4535A= (n.*4535A=)
c.230+11835A=
c.5243A= (p.His1748=)
c.5138A= (p.His1713=)
c.5129A= (p.His1710=)
c.5090A= (p.His1697=)
c.5036A= (p.His1679=)
c.4940A= (p.His1647=)
c.4910A= (p.His1637=)
c.4835A= (p.His1612=)
c.4733A= (p.His1578=)
c.4364A= (p.His1455=)
5g.112840807A>CCA009926APCc.5267A>C (p.His1756Pro)
c.*5219A>C (n.*5219A>C)
c.5159A>C (p.His1720Pro)
c.5213A>C (p.His1738Pro)
c.*4535A>C (n.*4535A>C)
c.230+11835A>C
c.5243A>C (p.His1748Pro)
c.5138A>C (p.His1713Pro)
c.5129A>C (p.His1710Pro)
c.5090A>C (p.His1697Pro)
c.5036A>C (p.His1679Pro)
c.4940A>C (p.His1647Pro)
c.4910A>C (p.His1637Pro)
c.4835A>C (p.His1612Pro)
c.4733A>C (p.His1578Pro)
c.4364A>C (p.His1455Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840807A>GCA040983APCc.5267A>G (p.His1756Arg)
c.*5219A>G (n.*5219A>G)
c.5159A>G (p.His1720Arg)
c.5213A>G (p.His1738Arg)
c.*4535A>G (n.*4535A>G)
c.230+11835A>G
c.5243A>G (p.His1748Arg)
c.5138A>G (p.His1713Arg)
c.5129A>G (p.His1710Arg)
c.5090A>G (p.His1697Arg)
c.5036A>G (p.His1679Arg)
c.4940A>G (p.His1647Arg)
c.4910A>G (p.His1637Arg)
c.4835A>G (p.His1612Arg)
c.4733A>G (p.His1578Arg)
c.4364A>G (p.His1455Arg)
 ClinVar dbSNP ExAC gnomAD v2
5g.112840807A>TCA16032727APCc.5267A>T (p.His1756Leu)
c.*5219A>T (n.*5219A>T)
c.5159A>T (p.His1720Leu)
c.5213A>T (p.His1738Leu)
c.*4535A>T (n.*4535A>T)
c.230+11835A>T
c.5243A>T (p.His1748Leu)
c.5138A>T (p.His1713Leu)
c.5129A>T (p.His1710Leu)
c.5090A>T (p.His1697Leu)
c.5036A>T (p.His1679Leu)
c.4940A>T (p.His1647Leu)
c.4910A>T (p.His1637Leu)
c.4835A>T (p.His1612Leu)
c.4733A>T (p.His1578Leu)
c.4364A>T (p.His1455Leu)
 ClinVar dbSNP
5g.112840808C>ACA16032728APCc.5268C>A (p.His1756Gln)
c.*5220C>A (n.*5220C>A)
c.5160C>A (p.His1720Gln)
c.5214C>A (p.His1738Gln)
c.*4536C>A (n.*4536C>A)
c.230+11836C>A
c.5244C>A (p.His1748Gln)
c.5139C>A (p.His1713Gln)
c.5130C>A (p.His1710Gln)
c.5091C>A (p.His1697Gln)
c.5037C>A (p.His1679Gln)
c.4941C>A (p.His1647Gln)
c.4911C>A (p.His1637Gln)
c.4836C>A (p.His1612Gln)
c.4734C>A (p.His1578Gln)
c.4365C>A (p.His1455Gln)
 ClinVar dbSNP gnomAD v4
5g.112840808C=CA1573474773APCc.5268C= (p.His1756=)
c.*5220C= (n.*5220C=)
c.5160C= (p.His1720=)
c.5214C= (p.His1738=)
c.*4536C= (n.*4536C=)
c.230+11836C=
c.5244C= (p.His1748=)
c.5139C= (p.His1713=)
c.5130C= (p.His1710=)
c.5091C= (p.His1697=)
c.5037C= (p.His1679=)
c.4941C= (p.His1647=)
c.4911C= (p.His1637=)
c.4836C= (p.His1612=)
c.4734C= (p.His1578=)
c.4365C= (p.His1455=)
5g.112840808C>GCA16032729APCc.5268C>G (p.His1756Gln)
c.*5220C>G (n.*5220C>G)
c.5160C>G (p.His1720Gln)
c.5214C>G (p.His1738Gln)
c.*4536C>G (n.*4536C>G)
c.230+11836C>G
c.5244C>G (p.His1748Gln)
c.5139C>G (p.His1713Gln)
c.5130C>G (p.His1710Gln)
c.5091C>G (p.His1697Gln)
c.5037C>G (p.His1679Gln)
c.4941C>G (p.His1647Gln)
c.4911C>G (p.His1637Gln)
c.4836C>G (p.His1612Gln)
c.4734C>G (p.His1578Gln)
c.4365C>G (p.His1455Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840808C>TCA446209645APCc.5268C>T (p.His1756=)
c.*5220C>T (n.*5220C>T)
c.5160C>T (p.His1720=)
c.5214C>T (p.His1738=)
c.*4536C>T (n.*4536C>T)
c.230+11836C>T
c.5244C>T (p.His1748=)
c.5139C>T (p.His1713=)
c.5130C>T (p.His1710=)
c.5091C>T (p.His1697=)
c.5037C>T (p.His1679=)
c.4941C>T (p.His1647=)
c.4911C>T (p.His1637=)
c.4836C>T (p.His1612=)
c.4734C>T (p.His1578=)
c.4365C>T (p.His1455=)
 ClinVar dbSNP gnomAD v4
5g.112840809A=CA1573474780APCc.5269A= (p.Lys1757=)
c.*5221A= (n.*5221A=)
c.5161A= (p.Lys1721=)
c.5215A= (p.Lys1739=)
c.*4537A= (n.*4537A=)
c.230+11837A=
c.5245A= (p.Lys1749=)
c.5140A= (p.Lys1714=)
c.5131A= (p.Lys1711=)
c.5092A= (p.Lys1698=)
c.5038A= (p.Lys1680=)
c.4942A= (p.Lys1648=)
c.4912A= (p.Lys1638=)
c.4837A= (p.Lys1613=)
c.4735A= (p.Lys1579=)
c.4366A= (p.Lys1456=)
5g.112840809A>CCA16032730APCc.5269A>C (p.Lys1757Gln)
c.*5221A>C (n.*5221A>C)
c.5161A>C (p.Lys1721Gln)
c.5215A>C (p.Lys1739Gln)
c.*4537A>C (n.*4537A>C)
c.230+11837A>C
c.5245A>C (p.Lys1749Gln)
c.5140A>C (p.Lys1714Gln)
c.5131A>C (p.Lys1711Gln)
c.5092A>C (p.Lys1698Gln)
c.5038A>C (p.Lys1680Gln)
c.4942A>C (p.Lys1648Gln)
c.4912A>C (p.Lys1638Gln)
c.4837A>C (p.Lys1613Gln)
c.4735A>C (p.Lys1579Gln)
c.4366A>C (p.Lys1456Gln)
 ClinVar dbSNP gnomAD v4
5g.112840809A>GCA16032731APCc.5269A>G (p.Lys1757Glu)
c.*5221A>G (n.*5221A>G)
c.5161A>G (p.Lys1721Glu)
c.5215A>G (p.Lys1739Glu)
c.*4537A>G (n.*4537A>G)
c.230+11837A>G
c.5245A>G (p.Lys1749Glu)
c.5140A>G (p.Lys1714Glu)
c.5131A>G (p.Lys1711Glu)
c.5092A>G (p.Lys1698Glu)
c.5038A>G (p.Lys1680Glu)
c.4942A>G (p.Lys1648Glu)
c.4912A>G (p.Lys1638Glu)
c.4837A>G (p.Lys1613Glu)
c.4735A>G (p.Lys1579Glu)
c.4366A>G (p.Lys1456Glu)
 dbSNP
5g.112840809A>TCA16032732APCc.5269A>T (p.Lys1757Ter)
c.*5221A>T (n.*5221A>T)
c.5161A>T (p.Lys1721Ter)
c.5215A>T (p.Lys1739Ter)
c.*4537A>T (n.*4537A>T)
c.230+11837A>T
c.5245A>T (p.Lys1749Ter)
c.5140A>T (p.Lys1714Ter)
c.5131A>T (p.Lys1711Ter)
c.5092A>T (p.Lys1698Ter)
c.5038A>T (p.Lys1680Ter)
c.4942A>T (p.Lys1648Ter)
c.4912A>T (p.Lys1638Ter)
c.4837A>T (p.Lys1613Ter)
c.4735A>T (p.Lys1579Ter)
c.4366A>T (p.Lys1456Ter)
 dbSNP
5g.112840810A=CA1573474796APCc.5270A= (p.Lys1757=)
c.*5222A= (n.*5222A=)
c.5162A= (p.Lys1721=)
c.5216A= (p.Lys1739=)
c.*4538A= (n.*4538A=)
c.230+11838A=
c.5246A= (p.Lys1749=)
c.5141A= (p.Lys1714=)
c.5132A= (p.Lys1711=)
c.5093A= (p.Lys1698=)
c.5039A= (p.Lys1680=)
c.4943A= (p.Lys1648=)
c.4913A= (p.Lys1638=)
c.4838A= (p.Lys1613=)
c.4736A= (p.Lys1579=)
c.4367A= (p.Lys1456=)
5g.112840810A>CCA16032733APCc.5270A>C (p.Lys1757Thr)
c.*5222A>C (n.*5222A>C)
c.5162A>C (p.Lys1721Thr)
c.5216A>C (p.Lys1739Thr)
c.*4538A>C (n.*4538A>C)
c.230+11838A>C
c.5246A>C (p.Lys1749Thr)
c.5141A>C (p.Lys1714Thr)
c.5132A>C (p.Lys1711Thr)
c.5093A>C (p.Lys1698Thr)
c.5039A>C (p.Lys1680Thr)
c.4943A>C (p.Lys1648Thr)
c.4913A>C (p.Lys1638Thr)
c.4838A>C (p.Lys1613Thr)
c.4736A>C (p.Lys1579Thr)
c.4367A>C (p.Lys1456Thr)
5g.112840810A>GCA009933APCc.5270A>G (p.Lys1757Arg)
c.*5222A>G (n.*5222A>G)
c.5162A>G (p.Lys1721Arg)
c.5216A>G (p.Lys1739Arg)
c.*4538A>G (n.*4538A>G)
c.230+11838A>G
c.5246A>G (p.Lys1749Arg)
c.5141A>G (p.Lys1714Arg)
c.5132A>G (p.Lys1711Arg)
c.5093A>G (p.Lys1698Arg)
c.5039A>G (p.Lys1680Arg)
c.4943A>G (p.Lys1648Arg)
c.4913A>G (p.Lys1638Arg)
c.4838A>G (p.Lys1613Arg)
c.4736A>G (p.Lys1579Arg)
c.4367A>G (p.Lys1456Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840810A>TCA16032734APCc.5270A>T (p.Lys1757Met)
c.*5222A>T (n.*5222A>T)
c.5162A>T (p.Lys1721Met)
c.5216A>T (p.Lys1739Met)
c.*4538A>T (n.*4538A>T)
c.230+11838A>T
c.5246A>T (p.Lys1749Met)
c.5141A>T (p.Lys1714Met)
c.5132A>T (p.Lys1711Met)
c.5093A>T (p.Lys1698Met)
c.5039A>T (p.Lys1680Met)
c.4943A>T (p.Lys1648Met)
c.4913A>T (p.Lys1638Met)
c.4838A>T (p.Lys1613Met)
c.4736A>T (p.Lys1579Met)
c.4367A>T (p.Lys1456Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840811G>ACA446209646APCc.5271G>A (p.Lys1757=)
c.*5223G>A (n.*5223G>A)
c.5163G>A (p.Lys1721=)
c.5217G>A (p.Lys1739=)
c.*4539G>A (n.*4539G>A)
c.230+11839G>A
c.5247G>A (p.Lys1749=)
c.5142G>A (p.Lys1714=)
c.5133G>A (p.Lys1711=)
c.5094G>A (p.Lys1698=)
c.5040G>A (p.Lys1680=)
c.4944G>A (p.Lys1648=)
c.4914G>A (p.Lys1638=)
c.4839G>A (p.Lys1613=)
c.4737G>A (p.Lys1579=)
c.4368G>A (p.Lys1456=)
 ClinVar dbSNP
5g.112840811G>CCA16032735APCc.5271G>C (p.Lys1757Asn)
c.*5223G>C (n.*5223G>C)
c.5163G>C (p.Lys1721Asn)
c.5217G>C (p.Lys1739Asn)
c.*4539G>C (n.*4539G>C)
c.230+11839G>C
c.5247G>C (p.Lys1749Asn)
c.5142G>C (p.Lys1714Asn)
c.5133G>C (p.Lys1711Asn)
c.5094G>C (p.Lys1698Asn)
c.5040G>C (p.Lys1680Asn)
c.4944G>C (p.Lys1648Asn)
c.4914G>C (p.Lys1638Asn)
c.4839G>C (p.Lys1613Asn)
c.4737G>C (p.Lys1579Asn)
c.4368G>C (p.Lys1456Asn)
 dbSNP
5g.112840811G=CA1573474801APCc.5271G= (p.Lys1757=)
c.*5223G= (n.*5223G=)
c.5163G= (p.Lys1721=)
c.5217G= (p.Lys1739=)
c.*4539G= (n.*4539G=)
c.230+11839G=
c.5247G= (p.Lys1749=)
c.5142G= (p.Lys1714=)
c.5133G= (p.Lys1711=)
c.5094G= (p.Lys1698=)
c.5040G= (p.Lys1680=)
c.4944G= (p.Lys1648=)
c.4914G= (p.Lys1638=)
c.4839G= (p.Lys1613=)
c.4737G= (p.Lys1579=)
c.4368G= (p.Lys1456=)
5g.112840811G>TCA16032736APCc.5271G>T (p.Lys1757Asn)
c.*5223G>T (n.*5223G>T)
c.5163G>T (p.Lys1721Asn)
c.5217G>T (p.Lys1739Asn)
c.*4539G>T (n.*4539G>T)
c.230+11839G>T
c.5247G>T (p.Lys1749Asn)
c.5142G>T (p.Lys1714Asn)
c.5133G>T (p.Lys1711Asn)
c.5094G>T (p.Lys1698Asn)
c.5040G>T (p.Lys1680Asn)
c.4944G>T (p.Lys1648Asn)
c.4914G>T (p.Lys1638Asn)
c.4839G>T (p.Lys1613Asn)
c.4737G>T (p.Lys1579Asn)
c.4368G>T (p.Lys1456Asn)
 ClinVar dbSNP
5g.112840812C>ACA16032737APCc.5272C>A (p.Pro1758Thr)
c.*5224C>A (n.*5224C>A)
c.5164C>A (p.Pro1722Thr)
c.5218C>A (p.Pro1740Thr)
c.*4540C>A (n.*4540C>A)
c.230+11840C>A
c.5248C>A (p.Pro1750Thr)
c.5143C>A (p.Pro1715Thr)
c.5134C>A (p.Pro1712Thr)
c.5095C>A (p.Pro1699Thr)
c.5041C>A (p.Pro1681Thr)
c.4945C>A (p.Pro1649Thr)
c.4915C>A (p.Pro1639Thr)
c.4840C>A (p.Pro1614Thr)
c.4738C>A (p.Pro1580Thr)
c.4369C>A (p.Pro1457Thr)
 ClinVar dbSNP gnomAD v4
5g.112840812C=CA1573474812APCc.5272C= (p.Pro1758=)
c.*5224C= (n.*5224C=)
c.5164C= (p.Pro1722=)
c.5218C= (p.Pro1740=)
c.*4540C= (n.*4540C=)
c.230+11840C=
c.5248C= (p.Pro1750=)
c.5143C= (p.Pro1715=)
c.5134C= (p.Pro1712=)
c.5095C= (p.Pro1699=)
c.5041C= (p.Pro1681=)
c.4945C= (p.Pro1649=)
c.4915C= (p.Pro1639=)
c.4840C= (p.Pro1614=)
c.4738C= (p.Pro1580=)
c.4369C= (p.Pro1457=)
5g.112840812C>GCA16032738APCc.5272C>G (p.Pro1758Ala)
c.*5224C>G (n.*5224C>G)
c.5164C>G (p.Pro1722Ala)
c.5218C>G (p.Pro1740Ala)
c.*4540C>G (n.*4540C>G)
c.230+11840C>G
c.5248C>G (p.Pro1750Ala)
c.5143C>G (p.Pro1715Ala)
c.5134C>G (p.Pro1712Ala)
c.5095C>G (p.Pro1699Ala)
c.5041C>G (p.Pro1681Ala)
c.4945C>G (p.Pro1649Ala)
c.4915C>G (p.Pro1639Ala)
c.4840C>G (p.Pro1614Ala)
c.4738C>G (p.Pro1580Ala)
c.4369C>G (p.Pro1457Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840812C>TCA16032739APCc.5272C>T (p.Pro1758Ser)
c.*5224C>T (n.*5224C>T)
c.5164C>T (p.Pro1722Ser)
c.5218C>T (p.Pro1740Ser)
c.*4540C>T (n.*4540C>T)
c.230+11840C>T
c.5248C>T (p.Pro1750Ser)
c.5143C>T (p.Pro1715Ser)
c.5134C>T (p.Pro1712Ser)
c.5095C>T (p.Pro1699Ser)
c.5041C>T (p.Pro1681Ser)
c.4945C>T (p.Pro1649Ser)
c.4915C>T (p.Pro1639Ser)
c.4840C>T (p.Pro1614Ser)
c.4738C>T (p.Pro1580Ser)
c.4369C>T (p.Pro1457Ser)
 ClinVar dbSNP
5g.112840813C>ACA16032740APCc.5273C>A (p.Pro1758His)
c.*5225C>A (n.*5225C>A)
c.5165C>A (p.Pro1722His)
c.5219C>A (p.Pro1740His)
c.*4541C>A (n.*4541C>A)
c.230+11841C>A
c.5249C>A (p.Pro1750His)
c.5144C>A (p.Pro1715His)
c.5135C>A (p.Pro1712His)
c.5096C>A (p.Pro1699His)
c.5042C>A (p.Pro1681His)
c.4946C>A (p.Pro1649His)
c.4916C>A (p.Pro1639His)
c.4841C>A (p.Pro1614His)
c.4739C>A (p.Pro1580His)
c.4370C>A (p.Pro1457His)
 ClinVar dbSNP
5g.112840813C=CA1573474823APCc.5273C= (p.Pro1758=)
c.*5225C= (n.*5225C=)
c.5165C= (p.Pro1722=)
c.5219C= (p.Pro1740=)
c.*4541C= (n.*4541C=)
c.230+11841C=
c.5249C= (p.Pro1750=)
c.5144C= (p.Pro1715=)
c.5135C= (p.Pro1712=)
c.5096C= (p.Pro1699=)
c.5042C= (p.Pro1681=)
c.4946C= (p.Pro1649=)
c.4916C= (p.Pro1639=)
c.4841C= (p.Pro1614=)
c.4739C= (p.Pro1580=)
c.4370C= (p.Pro1457=)
5g.112840813C>GCA16032741APCc.5273C>G (p.Pro1758Arg)
c.*5225C>G (n.*5225C>G)
c.5165C>G (p.Pro1722Arg)
c.5219C>G (p.Pro1740Arg)
c.*4541C>G (n.*4541C>G)
c.230+11841C>G
c.5249C>G (p.Pro1750Arg)
c.5144C>G (p.Pro1715Arg)
c.5135C>G (p.Pro1712Arg)
c.5096C>G (p.Pro1699Arg)
c.5042C>G (p.Pro1681Arg)
c.4946C>G (p.Pro1649Arg)
c.4916C>G (p.Pro1639Arg)
c.4841C>G (p.Pro1614Arg)
c.4739C>G (p.Pro1580Arg)
c.4370C>G (p.Pro1457Arg)
 gnomAD v4
5g.112840813C>TCA16032742APCc.5273C>T (p.Pro1758Leu)
c.*5225C>T (n.*5225C>T)
c.5165C>T (p.Pro1722Leu)
c.5219C>T (p.Pro1740Leu)
c.*4541C>T (n.*4541C>T)
c.230+11841C>T
c.5249C>T (p.Pro1750Leu)
c.5144C>T (p.Pro1715Leu)
c.5135C>T (p.Pro1712Leu)
c.5096C>T (p.Pro1699Leu)
c.5042C>T (p.Pro1681Leu)
c.4946C>T (p.Pro1649Leu)
c.4916C>T (p.Pro1639Leu)
c.4841C>T (p.Pro1614Leu)
c.4739C>T (p.Pro1580Leu)
c.4370C>T (p.Pro1457Leu)
 ClinVar dbSNP gnomAD v4
5g.112840814T>ACA446209647APCc.5274T>A (p.Pro1758=)
c.*5226T>A (n.*5226T>A)
c.5166T>A (p.Pro1722=)
c.5220T>A (p.Pro1740=)
c.*4542T>A (n.*4542T>A)
c.230+11842T>A
c.5250T>A (p.Pro1750=)
c.5145T>A (p.Pro1715=)
c.5136T>A (p.Pro1712=)
c.5097T>A (p.Pro1699=)
c.5043T>A (p.Pro1681=)
c.4947T>A (p.Pro1649=)
c.4917T>A (p.Pro1639=)
c.4842T>A (p.Pro1614=)
c.4740T>A (p.Pro1580=)
c.4371T>A (p.Pro1457=)
 dbSNP gnomAD v4
5g.112840814T>CCA446209648APCc.5274T>C (p.Pro1758=)
c.*5226T>C (n.*5226T>C)
c.5166T>C (p.Pro1722=)
c.5220T>C (p.Pro1740=)
c.*4542T>C (n.*4542T>C)
c.230+11842T>C
c.5250T>C (p.Pro1750=)
c.5145T>C (p.Pro1715=)
c.5136T>C (p.Pro1712=)
c.5097T>C (p.Pro1699=)
c.5043T>C (p.Pro1681=)
c.4947T>C (p.Pro1649=)
c.4917T>C (p.Pro1639=)
c.4842T>C (p.Pro1614=)
c.4740T>C (p.Pro1580=)
c.4371T>C (p.Pro1457=)
 dbSNP COSMIC
5g.112840814T>GCA446209649APCc.5274T>G (p.Pro1758=)
c.*5226T>G (n.*5226T>G)
c.5166T>G (p.Pro1722=)
c.5220T>G (p.Pro1740=)
c.*4542T>G (n.*4542T>G)
c.230+11842T>G
c.5250T>G (p.Pro1750=)
c.5145T>G (p.Pro1715=)
c.5136T>G (p.Pro1712=)
c.5097T>G (p.Pro1699=)
c.5043T>G (p.Pro1681=)
c.4947T>G (p.Pro1649=)
c.4917T>G (p.Pro1639=)
c.4842T>G (p.Pro1614=)
c.4740T>G (p.Pro1580=)
c.4371T>G (p.Pro1457=)
5g.112840815T>ACA16032743APCc.5275T>A (p.Phe1759Ile)
c.*5227T>A (n.*5227T>A)
c.5167T>A (p.Phe1723Ile)
c.5221T>A (p.Phe1741Ile)
c.*4543T>A (n.*4543T>A)
c.230+11843T>A
c.5251T>A (p.Phe1751Ile)
c.5146T>A (p.Phe1716Ile)
c.5137T>A (p.Phe1713Ile)
c.5098T>A (p.Phe1700Ile)
c.5044T>A (p.Phe1682Ile)
c.4948T>A (p.Phe1650Ile)
c.4918T>A (p.Phe1640Ile)
c.4843T>A (p.Phe1615Ile)
c.4741T>A (p.Phe1581Ile)
c.4372T>A (p.Phe1458Ile)
 dbSNP
5g.112840815T>CCA16032744APCc.5275T>C (p.Phe1759Leu)
c.*5227T>C (n.*5227T>C)
c.5167T>C (p.Phe1723Leu)
c.5221T>C (p.Phe1741Leu)
c.*4543T>C (n.*4543T>C)
c.230+11843T>C
c.5251T>C (p.Phe1751Leu)
c.5146T>C (p.Phe1716Leu)
c.5137T>C (p.Phe1713Leu)
c.5098T>C (p.Phe1700Leu)
c.5044T>C (p.Phe1682Leu)
c.4948T>C (p.Phe1650Leu)
c.4918T>C (p.Phe1640Leu)
c.4843T>C (p.Phe1615Leu)
c.4741T>C (p.Phe1581Leu)
c.4372T>C (p.Phe1458Leu)
 dbSNP
5g.112840815T>GCA16032745APCc.5275T>G (p.Phe1759Val)
c.*5227T>G (n.*5227T>G)
c.5167T>G (p.Phe1723Val)
c.5221T>G (p.Phe1741Val)
c.*4543T>G (n.*4543T>G)
c.230+11843T>G
c.5251T>G (p.Phe1751Val)
c.5146T>G (p.Phe1716Val)
c.5137T>G (p.Phe1713Val)
c.5098T>G (p.Phe1700Val)
c.5044T>G (p.Phe1682Val)
c.4948T>G (p.Phe1650Val)
c.4918T>G (p.Phe1640Val)
c.4843T>G (p.Phe1615Val)
c.4741T>G (p.Phe1581Val)
c.4372T>G (p.Phe1458Val)
5g.112840816T>ACA16032746APCc.5276T>A (p.Phe1759Tyr)
c.*5228T>A (n.*5228T>A)
c.5168T>A (p.Phe1723Tyr)
c.5222T>A (p.Phe1741Tyr)
c.*4544T>A (n.*4544T>A)
c.230+11844T>A
c.5252T>A (p.Phe1751Tyr)
c.5147T>A (p.Phe1716Tyr)
c.5138T>A (p.Phe1713Tyr)
c.5099T>A (p.Phe1700Tyr)
c.5045T>A (p.Phe1682Tyr)
c.4949T>A (p.Phe1650Tyr)
c.4919T>A (p.Phe1640Tyr)
c.4844T>A (p.Phe1615Tyr)
c.4742T>A (p.Phe1581Tyr)
c.4373T>A (p.Phe1458Tyr)
5g.112840816T>CCA16032747APCc.5276T>C (p.Phe1759Ser)
c.*5228T>C (n.*5228T>C)
c.5168T>C (p.Phe1723Ser)
c.5222T>C (p.Phe1741Ser)
c.*4544T>C (n.*4544T>C)
c.230+11844T>C
c.5252T>C (p.Phe1751Ser)
c.5147T>C (p.Phe1716Ser)
c.5138T>C (p.Phe1713Ser)
c.5099T>C (p.Phe1700Ser)
c.5045T>C (p.Phe1682Ser)
c.4949T>C (p.Phe1650Ser)
c.4919T>C (p.Phe1640Ser)
c.4844T>C (p.Phe1615Ser)
c.4742T>C (p.Phe1581Ser)
c.4373T>C (p.Phe1458Ser)
5g.112840816T>GCA16032748APCc.5276T>G (p.Phe1759Cys)
c.*5228T>G (n.*5228T>G)
c.5168T>G (p.Phe1723Cys)
c.5222T>G (p.Phe1741Cys)
c.*4544T>G (n.*4544T>G)
c.230+11844T>G
c.5252T>G (p.Phe1751Cys)
c.5147T>G (p.Phe1716Cys)
c.5138T>G (p.Phe1713Cys)
c.5099T>G (p.Phe1700Cys)
c.5045T>G (p.Phe1682Cys)
c.4949T>G (p.Phe1650Cys)
c.4919T>G (p.Phe1640Cys)
c.4844T>G (p.Phe1615Cys)
c.4742T>G (p.Phe1581Cys)
c.4373T>G (p.Phe1458Cys)
 ClinVar dbSNP
5g.112840816T=CA1573474833APCc.5276T= (p.Phe1759=)
c.*5228T= (n.*5228T=)
c.5168T= (p.Phe1723=)
c.5222T= (p.Phe1741=)
c.*4544T= (n.*4544T=)
c.230+11844T=
c.5252T= (p.Phe1751=)
c.5147T= (p.Phe1716=)
c.5138T= (p.Phe1713=)
c.5099T= (p.Phe1700=)
c.5045T= (p.Phe1682=)
c.4949T= (p.Phe1650=)
c.4919T= (p.Phe1640=)
c.4844T= (p.Phe1615=)
c.4742T= (p.Phe1581=)
c.4373T= (p.Phe1458=)
5g.112840817C>ACA16032749APCc.5277C>A (p.Phe1759Leu)
c.*5229C>A (n.*5229C>A)
c.5169C>A (p.Phe1723Leu)
c.5223C>A (p.Phe1741Leu)
c.*4545C>A (n.*4545C>A)
c.230+11845C>A
c.5253C>A (p.Phe1751Leu)
c.5148C>A (p.Phe1716Leu)
c.5139C>A (p.Phe1713Leu)
c.5100C>A (p.Phe1700Leu)
c.5046C>A (p.Phe1682Leu)
c.4950C>A (p.Phe1650Leu)
c.4920C>A (p.Phe1640Leu)
c.4845C>A (p.Phe1615Leu)
c.4743C>A (p.Phe1581Leu)
c.4374C>A (p.Phe1458Leu)
 dbSNP
5g.112840817C>GCA16032750APCc.5277C>G (p.Phe1759Leu)
c.*5229C>G (n.*5229C>G)
c.5169C>G (p.Phe1723Leu)
c.5223C>G (p.Phe1741Leu)
c.*4545C>G (n.*4545C>G)
c.230+11845C>G
c.5253C>G (p.Phe1751Leu)
c.5148C>G (p.Phe1716Leu)
c.5139C>G (p.Phe1713Leu)
c.5100C>G (p.Phe1700Leu)
c.5046C>G (p.Phe1682Leu)
c.4950C>G (p.Phe1650Leu)
c.4920C>G (p.Phe1640Leu)
c.4845C>G (p.Phe1615Leu)
c.4743C>G (p.Phe1581Leu)
c.4374C>G (p.Phe1458Leu)
5g.112840817C>TCA446209650APCc.5277C>T (p.Phe1759=)
c.*5229C>T (n.*5229C>T)
c.5169C>T (p.Phe1723=)
c.5223C>T (p.Phe1741=)
c.*4545C>T (n.*4545C>T)
c.230+11845C>T
c.5253C>T (p.Phe1751=)
c.5148C>T (p.Phe1716=)
c.5139C>T (p.Phe1713=)
c.5100C>T (p.Phe1700=)
c.5046C>T (p.Phe1682=)
c.4950C>T (p.Phe1650=)
c.4920C>T (p.Phe1640=)
c.4845C>T (p.Phe1615=)
c.4743C>T (p.Phe1581=)
c.4374C>T (p.Phe1458=)
 ClinVar dbSNP gnomAD v4
5g.112840818C>ACA16032751APCc.5278C>A (p.Arg1760Ser)
c.*5230C>A (n.*5230C>A)
c.5170C>A (p.Arg1724Ser)
c.5224C>A (p.Arg1742Ser)
c.*4546C>A (n.*4546C>A)
c.230+11846C>A
c.5254C>A (p.Arg1752Ser)
c.5149C>A (p.Arg1717Ser)
c.5140C>A (p.Arg1714Ser)
c.5101C>A (p.Arg1701Ser)
c.5047C>A (p.Arg1683Ser)
c.4951C>A (p.Arg1651Ser)
c.4921C>A (p.Arg1641Ser)
c.4846C>A (p.Arg1616Ser)
c.4744C>A (p.Arg1582Ser)
c.4375C>A (p.Arg1459Ser)
5g.112840818C=CA1573474846APCc.5278C= (p.Arg1760=)
c.*5230C= (n.*5230C=)
c.5170C= (p.Arg1724=)
c.5224C= (p.Arg1742=)
c.*4546C= (n.*4546C=)
c.230+11846C=
c.5254C= (p.Arg1752=)
c.5149C= (p.Arg1717=)
c.5140C= (p.Arg1714=)
c.5101C= (p.Arg1701=)
c.5047C= (p.Arg1683=)
c.4951C= (p.Arg1651=)
c.4921C= (p.Arg1641=)
c.4846C= (p.Arg1616=)
c.4744C= (p.Arg1582=)
c.4375C= (p.Arg1459=)
5g.112840818C>GCA16032752APCc.5278C>G (p.Arg1760Gly)
c.*5230C>G (n.*5230C>G)
c.5170C>G (p.Arg1724Gly)
c.5224C>G (p.Arg1742Gly)
c.*4546C>G (n.*4546C>G)
c.230+11846C>G
c.5254C>G (p.Arg1752Gly)
c.5149C>G (p.Arg1717Gly)
c.5140C>G (p.Arg1714Gly)
c.5101C>G (p.Arg1701Gly)
c.5047C>G (p.Arg1683Gly)
c.4951C>G (p.Arg1651Gly)
c.4921C>G (p.Arg1641Gly)
c.4846C>G (p.Arg1616Gly)
c.4744C>G (p.Arg1582Gly)
c.4375C>G (p.Arg1459Gly)
 ClinVar
5g.112840818C>TCA10578399APCc.5278C>T (p.Arg1760Cys)
c.*5230C>T (n.*5230C>T)
c.5170C>T (p.Arg1724Cys)
c.5224C>T (p.Arg1742Cys)
c.*4546C>T (n.*4546C>T)
c.230+11846C>T
c.5254C>T (p.Arg1752Cys)
c.5149C>T (p.Arg1717Cys)
c.5140C>T (p.Arg1714Cys)
c.5101C>T (p.Arg1701Cys)
c.5047C>T (p.Arg1683Cys)
c.4951C>T (p.Arg1651Cys)
c.4921C>T (p.Arg1641Cys)
c.4846C>T (p.Arg1616Cys)
c.4744C>T (p.Arg1582Cys)
c.4375C>T (p.Arg1459Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840819G>ACA009940APCc.5279G>A (p.Arg1760His)
c.*5231G>A (n.*5231G>A)
c.5171G>A (p.Arg1724His)
c.5225G>A (p.Arg1742His)
c.*4547G>A (n.*4547G>A)
c.230+11847G>A
c.5255G>A (p.Arg1752His)
c.5150G>A (p.Arg1717His)
c.5141G>A (p.Arg1714His)
c.5102G>A (p.Arg1701His)
c.5048G>A (p.Arg1683His)
c.4952G>A (p.Arg1651His)
c.4922G>A (p.Arg1641His)
c.4847G>A (p.Arg1616His)
c.4745G>A (p.Arg1582His)
c.4376G>A (p.Arg1459His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840819G>CCA16032753APCc.5279G>C (p.Arg1760Pro)
c.*5231G>C (n.*5231G>C)
c.5171G>C (p.Arg1724Pro)
c.5225G>C (p.Arg1742Pro)
c.*4547G>C (n.*4547G>C)
c.230+11847G>C
c.5255G>C (p.Arg1752Pro)
c.5150G>C (p.Arg1717Pro)
c.5141G>C (p.Arg1714Pro)
c.5102G>C (p.Arg1701Pro)
c.5048G>C (p.Arg1683Pro)
c.4952G>C (p.Arg1651Pro)
c.4922G>C (p.Arg1641Pro)
c.4847G>C (p.Arg1616Pro)
c.4745G>C (p.Arg1582Pro)
c.4376G>C (p.Arg1459Pro)
5g.112840819G=CA1573474852APCc.5279G= (p.Arg1760=)
c.*5231G= (n.*5231G=)
c.5171G= (p.Arg1724=)
c.5225G= (p.Arg1742=)
c.*4547G= (n.*4547G=)
c.230+11847G=
c.5255G= (p.Arg1752=)
c.5150G= (p.Arg1717=)
c.5141G= (p.Arg1714=)
c.5102G= (p.Arg1701=)
c.5048G= (p.Arg1683=)
c.4952G= (p.Arg1651=)
c.4922G= (p.Arg1641=)
c.4847G= (p.Arg1616=)
c.4745G= (p.Arg1582=)
c.4376G= (p.Arg1459=)
5g.112840819G>TCA16032754APCc.5279G>T (p.Arg1760Leu)
c.*5231G>T (n.*5231G>T)
c.5171G>T (p.Arg1724Leu)
c.5225G>T (p.Arg1742Leu)
c.*4547G>T (n.*4547G>T)
c.230+11847G>T
c.5255G>T (p.Arg1752Leu)
c.5150G>T (p.Arg1717Leu)
c.5141G>T (p.Arg1714Leu)
c.5102G>T (p.Arg1701Leu)
c.5048G>T (p.Arg1683Leu)
c.4952G>T (p.Arg1651Leu)
c.4922G>T (p.Arg1641Leu)
c.4847G>T (p.Arg1616Leu)
c.4745G>T (p.Arg1582Leu)
c.4376G>T (p.Arg1459Leu)
 ClinVar dbSNP COSMIC
5g.112840822_112840823delCA2710010929APCc.5282_5283del (p.Val1761GlufsTer25)
c.*5234_*5235del (n.*5234_*5235del)
c.5174_5175del (p.Val1725GlufsTer25)
c.5228_5229del (p.Val1743GlufsTer25)
c.*4550_*4551del (n.*4550_*4551del)
c.230+11850_230+11851del
c.5258_5259del (p.Val1753GlufsTer25)
c.5153_5154del (p.Val1718GlufsTer25)
c.5144_5145del (p.Val1715GlufsTer25)
c.5105_5106del (p.Val1702GlufsTer25)
c.5051_5052del (p.Val1684GlufsTer25)
c.4955_4956del (p.Val1652GlufsTer25)
c.4925_4926del (p.Val1642GlufsTer25)
c.4850_4851del (p.Val1617GlufsTer25)
c.4748_4749del (p.Val1583GlufsTer25)
c.4379_4380del (p.Val1460GlufsTer25)
 ClinVar dbSNP
5g.112840819_112840833delinsGTGTGAAAAAGATAACA1573474855APCc.5279_5293delinsGTGTGAAAAAGATAA (p.Arg1760=)
c.*5231_*5245delinsGTGTGAAAAAGATAA (n.*5231_*5245delinsGTGTGAAAAAGATAA)
c.5171_5185delinsGTGTGAAAAAGATAA (p.Arg1724=)
c.5225_5239delinsGTGTGAAAAAGATAA (p.Arg1742=)
c.*4547_*4561delinsGTGTGAAAAAGATAA (n.*4547_*4561delinsGTGTGAAAAAGATAA)
c.230+11847_230+11861delinsGTGTGAAAAAGATAA
c.5255_5269delinsGTGTGAAAAAGATAA (p.Arg1752=)
c.5150_5164delinsGTGTGAAAAAGATAA (p.Arg1717=)
c.5141_5155delinsGTGTGAAAAAGATAA (p.Arg1714=)
c.5102_5116delinsGTGTGAAAAAGATAA (p.Arg1701=)
c.5048_5062delinsGTGTGAAAAAGATAA (p.Arg1683=)
c.4952_4966delinsGTGTGAAAAAGATAA (p.Arg1651=)
c.4922_4936delinsGTGTGAAAAAGATAA (p.Arg1641=)
c.4847_4861delinsGTGTGAAAAAGATAA (p.Arg1616=)
c.4745_4759delinsGTGTGAAAAAGATAA (p.Arg1582=)
c.4376_4390delinsGTGTGAAAAAGATAA (p.Arg1459=)
5g.112840820T>ACA446209651APCc.5280T>A (p.Arg1760=)
c.*5232T>A (n.*5232T>A)
c.5172T>A (p.Arg1724=)
c.5226T>A (p.Arg1742=)
c.*4548T>A (n.*4548T>A)
c.230+11848T>A
c.5256T>A (p.Arg1752=)
c.5151T>A (p.Arg1717=)
c.5142T>A (p.Arg1714=)
c.5103T>A (p.Arg1701=)
c.5049T>A (p.Arg1683=)
c.4953T>A (p.Arg1651=)
c.4923T>A (p.Arg1641=)
c.4848T>A (p.Arg1616=)
c.4746T>A (p.Arg1582=)
c.4377T>A (p.Arg1459=)
 dbSNP
5g.112840820T>CCA446209652APCc.5280T>C (p.Arg1760=)
c.*5232T>C (n.*5232T>C)
c.5172T>C (p.Arg1724=)
c.5226T>C (p.Arg1742=)
c.*4548T>C (n.*4548T>C)
c.230+11848T>C
c.5256T>C (p.Arg1752=)
c.5151T>C (p.Arg1717=)
c.5142T>C (p.Arg1714=)
c.5103T>C (p.Arg1701=)
c.5049T>C (p.Arg1683=)
c.4953T>C (p.Arg1651=)
c.4923T>C (p.Arg1641=)
c.4848T>C (p.Arg1616=)
c.4746T>C (p.Arg1582=)
c.4377T>C (p.Arg1459=)
 dbSNP
5g.112840820T>GCA446209653APCc.5280T>G (p.Arg1760=)
c.*5232T>G (n.*5232T>G)
c.5172T>G (p.Arg1724=)
c.5226T>G (p.Arg1742=)
c.*4548T>G (n.*4548T>G)
c.230+11848T>G
c.5256T>G (p.Arg1752=)
c.5151T>G (p.Arg1717=)
c.5142T>G (p.Arg1714=)
c.5103T>G (p.Arg1701=)
c.5049T>G (p.Arg1683=)
c.4953T>G (p.Arg1651=)
c.4923T>G (p.Arg1641=)
c.4848T>G (p.Arg1616=)
c.4746T>G (p.Arg1582=)
c.4377T>G (p.Arg1459=)
5g.112840822_112840835delCA915943499APCc.5282_5295del (p.Val1761GlyfsTer21)
c.*5234_*5247del (n.*5234_*5247del)
c.5174_5187del (p.Val1725GlyfsTer21)
c.5228_5241del (p.Val1743GlyfsTer21)
c.*4550_*4563del (n.*4550_*4563del)
c.230+11850_230+11863del
c.5258_5271del (p.Val1753GlyfsTer21)
c.5153_5166del (p.Val1718GlyfsTer21)
c.5144_5157del (p.Val1715GlyfsTer21)
c.5105_5118del (p.Val1702GlyfsTer21)
c.5051_5064del (p.Val1684GlyfsTer21)
c.4955_4968del (p.Val1652GlyfsTer21)
c.4925_4938del (p.Val1642GlyfsTer21)
c.4850_4863del (p.Val1617GlyfsTer21)
c.4748_4761del (p.Val1583GlyfsTer21)
c.4379_4392del (p.Val1460GlyfsTer21)
 ClinVar dbSNP
5g.112840821G>ACA16032755APCc.5281G>A (p.Val1761Met)
c.*5233G>A (n.*5233G>A)
c.5173G>A (p.Val1725Met)
c.5227G>A (p.Val1743Met)
c.*4549G>A (n.*4549G>A)
c.230+11849G>A
c.5257G>A (p.Val1753Met)
c.5152G>A (p.Val1718Met)
c.5143G>A (p.Val1715Met)
c.5104G>A (p.Val1702Met)
c.5050G>A (p.Val1684Met)
c.4954G>A (p.Val1652Met)
c.4924G>A (p.Val1642Met)
c.4849G>A (p.Val1617Met)
c.4747G>A (p.Val1583Met)
c.4378G>A (p.Val1460Met)
 ClinVar dbSNP
5g.112840821G>CCA16032756APCc.5281G>C (p.Val1761Leu)
c.*5233G>C (n.*5233G>C)
c.5173G>C (p.Val1725Leu)
c.5227G>C (p.Val1743Leu)
c.*4549G>C (n.*4549G>C)
c.230+11849G>C
c.5257G>C (p.Val1753Leu)
c.5152G>C (p.Val1718Leu)
c.5143G>C (p.Val1715Leu)
c.5104G>C (p.Val1702Leu)
c.5050G>C (p.Val1684Leu)
c.4954G>C (p.Val1652Leu)
c.4924G>C (p.Val1642Leu)
c.4849G>C (p.Val1617Leu)
c.4747G>C (p.Val1583Leu)
c.4378G>C (p.Val1460Leu)
 dbSNP
5g.112840821G=CA1573474881APCc.5281G= (p.Val1761=)
c.*5233G= (n.*5233G=)
c.5173G= (p.Val1725=)
c.5227G= (p.Val1743=)
c.*4549G= (n.*4549G=)
c.230+11849G=
c.5257G= (p.Val1753=)
c.5152G= (p.Val1718=)
c.5143G= (p.Val1715=)
c.5104G= (p.Val1702=)
c.5050G= (p.Val1684=)
c.4954G= (p.Val1652=)
c.4924G= (p.Val1642=)
c.4849G= (p.Val1617=)
c.4747G= (p.Val1583=)
c.4378G= (p.Val1460=)
5g.112840821G>TCA16032757APCc.5281G>T (p.Val1761Leu)
c.*5233G>T (n.*5233G>T)
c.5173G>T (p.Val1725Leu)
c.5227G>T (p.Val1743Leu)
c.*4549G>T (n.*4549G>T)
c.230+11849G>T
c.5257G>T (p.Val1753Leu)
c.5152G>T (p.Val1718Leu)
c.5143G>T (p.Val1715Leu)
c.5104G>T (p.Val1702Leu)
c.5050G>T (p.Val1684Leu)
c.4954G>T (p.Val1652Leu)
c.4924G>T (p.Val1642Leu)
c.4849G>T (p.Val1617Leu)
c.4747G>T (p.Val1583Leu)
c.4378G>T (p.Val1460Leu)
 dbSNP
5g.112840822T>ACA16032758APCc.5282T>A (p.Val1761Glu)
c.*5234T>A (n.*5234T>A)
c.5174T>A (p.Val1725Glu)
c.5228T>A (p.Val1743Glu)
c.*4550T>A (n.*4550T>A)
c.230+11850T>A
c.5258T>A (p.Val1753Glu)
c.5153T>A (p.Val1718Glu)
c.5144T>A (p.Val1715Glu)
c.5105T>A (p.Val1702Glu)
c.5051T>A (p.Val1684Glu)
c.4955T>A (p.Val1652Glu)
c.4925T>A (p.Val1642Glu)
c.4850T>A (p.Val1617Glu)
c.4748T>A (p.Val1583Glu)
c.4379T>A (p.Val1460Glu)
 dbSNP
5g.112840822T>CCA16032759APCc.5282T>C (p.Val1761Ala)
c.*5234T>C (n.*5234T>C)
c.5174T>C (p.Val1725Ala)
c.5228T>C (p.Val1743Ala)
c.*4550T>C (n.*4550T>C)
c.230+11850T>C
c.5258T>C (p.Val1753Ala)
c.5153T>C (p.Val1718Ala)
c.5144T>C (p.Val1715Ala)
c.5105T>C (p.Val1702Ala)
c.5051T>C (p.Val1684Ala)
c.4955T>C (p.Val1652Ala)
c.4925T>C (p.Val1642Ala)
c.4850T>C (p.Val1617Ala)
c.4748T>C (p.Val1583Ala)
c.4379T>C (p.Val1460Ala)
5g.112840822T>GCA16032760APCc.5282T>G (p.Val1761Gly)
c.*5234T>G (n.*5234T>G)
c.5174T>G (p.Val1725Gly)
c.5228T>G (p.Val1743Gly)
c.*4550T>G (n.*4550T>G)
c.230+11850T>G
c.5258T>G (p.Val1753Gly)
c.5153T>G (p.Val1718Gly)
c.5144T>G (p.Val1715Gly)
c.5105T>G (p.Val1702Gly)
c.5051T>G (p.Val1684Gly)
c.4955T>G (p.Val1652Gly)
c.4925T>G (p.Val1642Gly)
c.4850T>G (p.Val1617Gly)
c.4748T>G (p.Val1583Gly)
c.4379T>G (p.Val1460Gly)
 ClinVar dbSNP
5g.112840823G>ACA446209656APCc.5283G>A (p.Val1761=)
c.*5235G>A (n.*5235G>A)
c.5175G>A (p.Val1725=)
c.5229G>A (p.Val1743=)
c.*4551G>A (n.*4551G>A)
c.230+11851G>A
c.5259G>A (p.Val1753=)
c.5154G>A (p.Val1718=)
c.5145G>A (p.Val1715=)
c.5106G>A (p.Val1702=)
c.5052G>A (p.Val1684=)
c.4956G>A (p.Val1652=)
c.4926G>A (p.Val1642=)
c.4851G>A (p.Val1617=)
c.4749G>A (p.Val1583=)
c.4380G>A (p.Val1460=)
 ClinVar dbSNP
5g.112840823G>CCA446209655APCc.5283G>C (p.Val1761=)
c.*5235G>C (n.*5235G>C)
c.5175G>C (p.Val1725=)
c.5229G>C (p.Val1743=)
c.*4551G>C (n.*4551G>C)
c.230+11851G>C
c.5259G>C (p.Val1753=)
c.5154G>C (p.Val1718=)
c.5145G>C (p.Val1715=)
c.5106G>C (p.Val1702=)
c.5052G>C (p.Val1684=)
c.4956G>C (p.Val1652=)
c.4926G>C (p.Val1642=)
c.4851G>C (p.Val1617=)
c.4749G>C (p.Val1583=)
c.4380G>C (p.Val1460=)
 dbSNP
5g.112840823G=CA1573474885APCc.5283G= (p.Val1761=)
c.*5235G= (n.*5235G=)
c.5175G= (p.Val1725=)
c.5229G= (p.Val1743=)
c.*4551G= (n.*4551G=)
c.230+11851G=
c.5259G= (p.Val1753=)
c.5154G= (p.Val1718=)
c.5145G= (p.Val1715=)
c.5106G= (p.Val1702=)
c.5052G= (p.Val1684=)
c.4956G= (p.Val1652=)
c.4926G= (p.Val1642=)
c.4851G= (p.Val1617=)
c.4749G= (p.Val1583=)
c.4380G= (p.Val1460=)
5g.112840823G>TCA446209654APCc.5283G>T (p.Val1761=)
c.*5235G>T (n.*5235G>T)
c.5175G>T (p.Val1725=)
c.5229G>T (p.Val1743=)
c.*4551G>T (n.*4551G>T)
c.230+11851G>T
c.5259G>T (p.Val1753=)
c.5154G>T (p.Val1718=)
c.5145G>T (p.Val1715=)
c.5106G>T (p.Val1702=)
c.5052G>T (p.Val1684=)
c.4956G>T (p.Val1652=)
c.4926G>T (p.Val1642=)
c.4851G>T (p.Val1617=)
c.4749G>T (p.Val1583=)
c.4380G>T (p.Val1460=)
 ClinVar
5g.112840824A=CA1573474914APCc.5284A= (p.Lys1762=)
c.*5236A= (n.*5236A=)
c.5176A= (p.Lys1726=)
c.5230A= (p.Lys1744=)
c.*4552A= (n.*4552A=)
c.230+11852A=
c.5260A= (p.Lys1754=)
c.5155A= (p.Lys1719=)
c.5146A= (p.Lys1716=)
c.5107A= (p.Lys1703=)
c.5053A= (p.Lys1685=)
c.4957A= (p.Lys1653=)
c.4927A= (p.Lys1643=)
c.4852A= (p.Lys1618=)
c.4750A= (p.Lys1584=)
c.4381A= (p.Lys1461=)
5g.112840824A>CCA16032761APCc.5284A>C (p.Lys1762Gln)
c.*5236A>C (n.*5236A>C)
c.5176A>C (p.Lys1726Gln)
c.5230A>C (p.Lys1744Gln)
c.*4552A>C (n.*4552A>C)
c.230+11852A>C
c.5260A>C (p.Lys1754Gln)
c.5155A>C (p.Lys1719Gln)
c.5146A>C (p.Lys1716Gln)
c.5107A>C (p.Lys1703Gln)
c.5053A>C (p.Lys1685Gln)
c.4957A>C (p.Lys1653Gln)
c.4927A>C (p.Lys1643Gln)
c.4852A>C (p.Lys1618Gln)
c.4750A>C (p.Lys1584Gln)
c.4381A>C (p.Lys1461Gln)
 ClinVar dbSNP
5g.112840824A>GCA16032762APCc.5284A>G (p.Lys1762Glu)
c.*5236A>G (n.*5236A>G)
c.5176A>G (p.Lys1726Glu)
c.5230A>G (p.Lys1744Glu)
c.*4552A>G (n.*4552A>G)
c.230+11852A>G
c.5260A>G (p.Lys1754Glu)
c.5155A>G (p.Lys1719Glu)
c.5146A>G (p.Lys1716Glu)
c.5107A>G (p.Lys1703Glu)
c.5053A>G (p.Lys1685Glu)
c.4957A>G (p.Lys1653Glu)
c.4927A>G (p.Lys1643Glu)
c.4852A>G (p.Lys1618Glu)
c.4750A>G (p.Lys1584Glu)
c.4381A>G (p.Lys1461Glu)
 ClinVar dbSNP
5g.112840824A>TCA16032763APCc.5284A>T (p.Lys1762Ter)
c.*5236A>T (n.*5236A>T)
c.5176A>T (p.Lys1726Ter)
c.5230A>T (p.Lys1744Ter)
c.*4552A>T (n.*4552A>T)
c.230+11852A>T
c.5260A>T (p.Lys1754Ter)
c.5155A>T (p.Lys1719Ter)
c.5146A>T (p.Lys1716Ter)
c.5107A>T (p.Lys1703Ter)
c.5053A>T (p.Lys1685Ter)
c.4957A>T (p.Lys1653Ter)
c.4927A>T (p.Lys1643Ter)
c.4852A>T (p.Lys1618Ter)
c.4750A>T (p.Lys1584Ter)
c.4381A>T (p.Lys1461Ter)
 dbSNP
5g.112840828dupCA16618089APCc.5288dup (p.Ile1764AspfsTer23)
c.*5240dup (n.*5240dup)
c.5180dup (p.Ile1728AspfsTer23)
c.5234dup (p.Ile1746AspfsTer23)
c.*4556dup (n.*4556dup)
c.230+11856dup
c.5264dup (p.Ile1756AspfsTer23)
c.5159dup (p.Ile1721AspfsTer23)
c.5150dup (p.Ile1718AspfsTer23)
c.5111dup (p.Ile1705AspfsTer23)
c.5057dup (p.Ile1687AspfsTer23)
c.4961dup (p.Ile1655AspfsTer23)
c.4931dup (p.Ile1645AspfsTer23)
c.4856dup (p.Ile1620AspfsTer23)
c.4754dup (p.Ile1586AspfsTer23)
c.4385dup (p.Ile1463AspfsTer23)
 ClinVar dbSNP
5g.112840825A>CCA16032764APCc.5285A>C (p.Lys1762Thr)
c.*5237A>C (n.*5237A>C)
c.5177A>C (p.Lys1726Thr)
c.5231A>C (p.Lys1744Thr)
c.*4553A>C (n.*4553A>C)
c.230+11853A>C
c.5261A>C (p.Lys1754Thr)
c.5156A>C (p.Lys1719Thr)
c.5147A>C (p.Lys1716Thr)
c.5108A>C (p.Lys1703Thr)
c.5054A>C (p.Lys1685Thr)
c.4958A>C (p.Lys1653Thr)
c.4928A>C (p.Lys1643Thr)
c.4853A>C (p.Lys1618Thr)
c.4751A>C (p.Lys1584Thr)
c.4382A>C (p.Lys1461Thr)
 ClinVar
5g.112840825A>GCA16032765APCc.5285A>G (p.Lys1762Arg)
c.*5237A>G (n.*5237A>G)
c.5177A>G (p.Lys1726Arg)
c.5231A>G (p.Lys1744Arg)
c.*4553A>G (n.*4553A>G)
c.230+11853A>G
c.5261A>G (p.Lys1754Arg)
c.5156A>G (p.Lys1719Arg)
c.5147A>G (p.Lys1716Arg)
c.5108A>G (p.Lys1703Arg)
c.5054A>G (p.Lys1685Arg)
c.4958A>G (p.Lys1653Arg)
c.4928A>G (p.Lys1643Arg)
c.4853A>G (p.Lys1618Arg)
c.4751A>G (p.Lys1584Arg)
c.4382A>G (p.Lys1461Arg)
 dbSNP
5g.112840825A>TCA16032766APCc.5285A>T (p.Lys1762Ile)
c.*5237A>T (n.*5237A>T)
c.5177A>T (p.Lys1726Ile)
c.5231A>T (p.Lys1744Ile)
c.*4553A>T (n.*4553A>T)
c.230+11853A>T
c.5261A>T (p.Lys1754Ile)
c.5156A>T (p.Lys1719Ile)
c.5147A>T (p.Lys1716Ile)
c.5108A>T (p.Lys1703Ile)
c.5054A>T (p.Lys1685Ile)
c.4958A>T (p.Lys1653Ile)
c.4928A>T (p.Lys1643Ile)
c.4853A>T (p.Lys1618Ile)
c.4751A>T (p.Lys1584Ile)
c.4382A>T (p.Lys1461Ile)
 dbSNP
5g.112840826A=CA1573474919APCc.5286A= (p.Lys1762=)
c.*5238A= (n.*5238A=)
c.5178A= (p.Lys1726=)
c.5232A= (p.Lys1744=)
c.*4554A= (n.*4554A=)
c.230+11854A=
c.5262A= (p.Lys1754=)
c.5157A= (p.Lys1719=)
c.5148A= (p.Lys1716=)
c.5109A= (p.Lys1703=)
c.5055A= (p.Lys1685=)
c.4959A= (p.Lys1653=)
c.4929A= (p.Lys1643=)
c.4854A= (p.Lys1618=)
c.4752A= (p.Lys1584=)
c.4383A= (p.Lys1461=)
5g.112840826A>CCA16032767APCc.5286A>C (p.Lys1762Asn)
c.*5238A>C (n.*5238A>C)
c.5178A>C (p.Lys1726Asn)
c.5232A>C (p.Lys1744Asn)
c.*4554A>C (n.*4554A>C)
c.230+11854A>C
c.5262A>C (p.Lys1754Asn)
c.5157A>C (p.Lys1719Asn)
c.5148A>C (p.Lys1716Asn)
c.5109A>C (p.Lys1703Asn)
c.5055A>C (p.Lys1685Asn)
c.4959A>C (p.Lys1653Asn)
c.4929A>C (p.Lys1643Asn)
c.4854A>C (p.Lys1618Asn)
c.4752A>C (p.Lys1584Asn)
c.4383A>C (p.Lys1461Asn)
5g.112840826A>GCA16604785APCc.5286A>G (p.Lys1762=)
c.*5238A>G (n.*5238A>G)
c.5178A>G (p.Lys1726=)
c.5232A>G (p.Lys1744=)
c.*4554A>G (n.*4554A>G)
c.230+11854A>G
c.5262A>G (p.Lys1754=)
c.5157A>G (p.Lys1719=)
c.5148A>G (p.Lys1716=)
c.5109A>G (p.Lys1703=)
c.5055A>G (p.Lys1685=)
c.4959A>G (p.Lys1653=)
c.4929A>G (p.Lys1643=)
c.4854A>G (p.Lys1618=)
c.4752A>G (p.Lys1584=)
c.4383A>G (p.Lys1461=)
 ClinVar dbSNP gnomAD v4
5g.112840826A>TCA16032768APCc.5286A>T (p.Lys1762Asn)
c.*5238A>T (n.*5238A>T)
c.5178A>T (p.Lys1726Asn)
c.5232A>T (p.Lys1744Asn)
c.*4554A>T (n.*4554A>T)
c.230+11854A>T
c.5262A>T (p.Lys1754Asn)
c.5157A>T (p.Lys1719Asn)
c.5148A>T (p.Lys1716Asn)
c.5109A>T (p.Lys1703Asn)
c.5055A>T (p.Lys1685Asn)
c.4959A>T (p.Lys1653Asn)
c.4929A>T (p.Lys1643Asn)
c.4854A>T (p.Lys1618Asn)
c.4752A>T (p.Lys1584Asn)
c.4383A>T (p.Lys1461Asn)
 dbSNP
5g.112840827A>CCA16032769APCc.5287A>C (p.Lys1763Gln)
c.*5239A>C (n.*5239A>C)
c.5179A>C (p.Lys1727Gln)
c.5233A>C (p.Lys1745Gln)
c.*4555A>C (n.*4555A>C)
c.230+11855A>C
c.5263A>C (p.Lys1755Gln)
c.5158A>C (p.Lys1720Gln)
c.5149A>C (p.Lys1717Gln)
c.5110A>C (p.Lys1704Gln)
c.5056A>C (p.Lys1686Gln)
c.4960A>C (p.Lys1654Gln)
c.4930A>C (p.Lys1644Gln)
c.4855A>C (p.Lys1619Gln)
c.4753A>C (p.Lys1585Gln)
c.4384A>C (p.Lys1462Gln)
5g.112840827A>GCA16032770APCc.5287A>G (p.Lys1763Glu)
c.*5239A>G (n.*5239A>G)
c.5179A>G (p.Lys1727Glu)
c.5233A>G (p.Lys1745Glu)
c.*4555A>G (n.*4555A>G)
c.230+11855A>G
c.5263A>G (p.Lys1755Glu)
c.5158A>G (p.Lys1720Glu)
c.5149A>G (p.Lys1717Glu)
c.5110A>G (p.Lys1704Glu)
c.5056A>G (p.Lys1686Glu)
c.4960A>G (p.Lys1654Glu)
c.4930A>G (p.Lys1644Glu)
c.4855A>G (p.Lys1619Glu)
c.4753A>G (p.Lys1585Glu)
c.4384A>G (p.Lys1462Glu)
5g.112840827A>TCA16032771APCc.5287A>T (p.Lys1763Ter)
c.*5239A>T (n.*5239A>T)
c.5179A>T (p.Lys1727Ter)
c.5233A>T (p.Lys1745Ter)
c.*4555A>T (n.*4555A>T)
c.230+11855A>T
c.5263A>T (p.Lys1755Ter)
c.5158A>T (p.Lys1720Ter)
c.5149A>T (p.Lys1717Ter)
c.5110A>T (p.Lys1704Ter)
c.5056A>T (p.Lys1686Ter)
c.4960A>T (p.Lys1654Ter)
c.4930A>T (p.Lys1644Ter)
c.4855A>T (p.Lys1619Ter)
c.4753A>T (p.Lys1585Ter)
c.4384A>T (p.Lys1462Ter)
 dbSNP
5g.112840828A>CCA16032772APCc.5288A>C (p.Lys1763Thr)
c.*5240A>C (n.*5240A>C)
c.5180A>C (p.Lys1727Thr)
c.5234A>C (p.Lys1745Thr)
c.*4556A>C (n.*4556A>C)
c.230+11856A>C
c.5264A>C (p.Lys1755Thr)
c.5159A>C (p.Lys1720Thr)
c.5150A>C (p.Lys1717Thr)
c.5111A>C (p.Lys1704Thr)
c.5057A>C (p.Lys1686Thr)
c.4961A>C (p.Lys1654Thr)
c.4931A>C (p.Lys1644Thr)
c.4856A>C (p.Lys1619Thr)
c.4754A>C (p.Lys1585Thr)
c.4385A>C (p.Lys1462Thr)
5g.112840828A>GCA16032773APCc.5288A>G (p.Lys1763Arg)
c.*5240A>G (n.*5240A>G)
c.5180A>G (p.Lys1727Arg)
c.5234A>G (p.Lys1745Arg)
c.*4556A>G (n.*4556A>G)
c.230+11856A>G
c.5264A>G (p.Lys1755Arg)
c.5159A>G (p.Lys1720Arg)
c.5150A>G (p.Lys1717Arg)
c.5111A>G (p.Lys1704Arg)
c.5057A>G (p.Lys1686Arg)
c.4961A>G (p.Lys1654Arg)
c.4931A>G (p.Lys1644Arg)
c.4856A>G (p.Lys1619Arg)
c.4754A>G (p.Lys1585Arg)
c.4385A>G (p.Lys1462Arg)
 ClinVar dbSNP
5g.112840828A>TCA16032774APCc.5288A>T (p.Lys1763Met)
c.*5240A>T (n.*5240A>T)
c.5180A>T (p.Lys1727Met)
c.5234A>T (p.Lys1745Met)
c.*4556A>T (n.*4556A>T)
c.230+11856A>T
c.5264A>T (p.Lys1755Met)
c.5159A>T (p.Lys1720Met)
c.5150A>T (p.Lys1717Met)
c.5111A>T (p.Lys1704Met)
c.5057A>T (p.Lys1686Met)
c.4961A>T (p.Lys1654Met)
c.4931A>T (p.Lys1644Met)
c.4856A>T (p.Lys1619Met)
c.4754A>T (p.Lys1585Met)
c.4385A>T (p.Lys1462Met)
 dbSNP
5g.112840828_112841134delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACCA1573474922APCc.5288_5594delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1763=)
c.*5240_*5546delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (n.*5240_*5546delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC)
c.5180_5486delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1727=)
c.5234_5540delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1745=)
c.*4556_*4862delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (n.*4556_*4862delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC)
c.230+11856_230+12162delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC
c.5264_5570delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1755=)
c.5159_5465delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1720=)
c.5150_5456delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1717=)
c.5111_5417delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1704=)
c.5057_5363delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1686=)
c.4961_5267delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1654=)
c.4931_5237delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1644=)
c.4856_5162delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1619=)
c.4754_5060delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1585=)
c.4385_4691delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1462=)
5g.112840829G>ACA446209657APCc.5289G>A (p.Lys1763=)
c.*5241G>A (n.*5241G>A)
c.5181G>A (p.Lys1727=)
c.5235G>A (p.Lys1745=)
c.*4557G>A (n.*4557G>A)
c.230+11857G>A
c.5265G>A (p.Lys1755=)
c.5160G>A (p.Lys1720=)
c.5151G>A (p.Lys1717=)
c.5112G>A (p.Lys1704=)
c.5058G>A (p.Lys1686=)
c.4962G>A (p.Lys1654=)
c.4932G>A (p.Lys1644=)
c.4857G>A (p.Lys1619=)
c.4755G>A (p.Lys1585=)
c.4386G>A (p.Lys1462=)
 dbSNP
5g.112840829G>CCA16032775APCc.5289G>C (p.Lys1763Asn)
c.*5241G>C (n.*5241G>C)
c.5181G>C (p.Lys1727Asn)
c.5235G>C (p.Lys1745Asn)
c.*4557G>C (n.*4557G>C)
c.230+11857G>C
c.5265G>C (p.Lys1755Asn)
c.5160G>C (p.Lys1720Asn)
c.5151G>C (p.Lys1717Asn)
c.5112G>C (p.Lys1704Asn)
c.5058G>C (p.Lys1686Asn)
c.4962G>C (p.Lys1654Asn)
c.4932G>C (p.Lys1644Asn)
c.4857G>C (p.Lys1619Asn)
c.4755G>C (p.Lys1585Asn)
c.4386G>C (p.Lys1462Asn)
 dbSNP
5g.112840829G>TCA16032776APCc.5289G>T (p.Lys1763Asn)
c.*5241G>T (n.*5241G>T)
c.5181G>T (p.Lys1727Asn)
c.5235G>T (p.Lys1745Asn)
c.*4557G>T (n.*4557G>T)
c.230+11857G>T
c.5265G>T (p.Lys1755Asn)
c.5160G>T (p.Lys1720Asn)
c.5151G>T (p.Lys1717Asn)
c.5112G>T (p.Lys1704Asn)
c.5058G>T (p.Lys1686Asn)
c.4962G>T (p.Lys1654Asn)
c.4932G>T (p.Lys1644Asn)
c.4857G>T (p.Lys1619Asn)
c.4755G>T (p.Lys1585Asn)
c.4386G>T (p.Lys1462Asn)
5g.112840829_112840832delinsGATACA1573474926APCc.5289_5292delinsGATA (p.Lys1763=)
c.*5241_*5244delinsGATA (n.*5241_*5244delinsGATA)
c.5181_5184delinsGATA (p.Lys1727=)
c.5235_5238delinsGATA (p.Lys1745=)
c.*4557_*4560delinsGATA (n.*4557_*4560delinsGATA)
c.230+11857_230+11860delinsGATA
c.5265_5268delinsGATA (p.Lys1755=)
c.5160_5163delinsGATA (p.Lys1720=)
c.5151_5154delinsGATA (p.Lys1717=)
c.5112_5115delinsGATA (p.Lys1704=)
c.5058_5061delinsGATA (p.Lys1686=)
c.4962_4965delinsGATA (p.Lys1654=)
c.4932_4935delinsGATA (p.Lys1644=)
c.4857_4860delinsGATA (p.Lys1619=)
c.4755_4758delinsGATA (p.Lys1585=)
c.4386_4389delinsGATA (p.Lys1462=)
5g.112840830_112841135delCA1139659018APCc.5290_5595del (p.Ile1764_Thr1865del)
c.*5242_*5547del (n.*5242_*5547del)
c.5182_5487del (p.Ile1728_Thr1829del)
c.5236_5541del (p.Ile1746_Thr1847del)
c.*4558_*4863del (n.*4558_*4863del)
c.230+11858_230+12163del
c.5266_5571del (p.Ile1756_Thr1857del)
c.5161_5466del (p.Ile1721_Thr1822del)
c.5152_5457del (p.Ile1718_Thr1819del)
c.5113_5418del (p.Ile1705_Thr1806del)
c.5059_5364del (p.Ile1687_Thr1788del)
c.4963_5268del (p.Ile1655_Thr1756del)
c.4933_5238del (p.Ile1645_Thr1746del)
c.4858_5163del (p.Ile1620_Thr1721del)
c.4756_5061del (p.Ile1586_Thr1687del)
c.4387_4692del (p.Ile1463_Thr1564del)
 ClinVar dbSNP
5g.112840830A=CA1573474932APCc.5290A= (p.Ile1764=)
c.*5242A= (n.*5242A=)
c.5182A= (p.Ile1728=)
c.5236A= (p.Ile1746=)
c.*4558A= (n.*4558A=)
c.230+11858A=
c.5266A= (p.Ile1756=)
c.5161A= (p.Ile1721=)
c.5152A= (p.Ile1718=)
c.5113A= (p.Ile1705=)
c.5059A= (p.Ile1687=)
c.4963A= (p.Ile1655=)
c.4933A= (p.Ile1645=)
c.4858A= (p.Ile1620=)
c.4756A= (p.Ile1586=)
c.4387A= (p.Ile1463=)
5g.112840830A>CCA16032777APCc.5290A>C (p.Ile1764Leu)
c.*5242A>C (n.*5242A>C)
c.5182A>C (p.Ile1728Leu)
c.5236A>C (p.Ile1746Leu)
c.*4558A>C (n.*4558A>C)
c.230+11858A>C
c.5266A>C (p.Ile1756Leu)
c.5161A>C (p.Ile1721Leu)
c.5152A>C (p.Ile1718Leu)
c.5113A>C (p.Ile1705Leu)
c.5059A>C (p.Ile1687Leu)
c.4963A>C (p.Ile1655Leu)
c.4933A>C (p.Ile1645Leu)
c.4858A>C (p.Ile1620Leu)
c.4756A>C (p.Ile1586Leu)
c.4387A>C (p.Ile1463Leu)
5g.112840830A>GCA009948APCc.5290A>G (p.Ile1764Val)
c.*5242A>G (n.*5242A>G)
c.5182A>G (p.Ile1728Val)
c.5236A>G (p.Ile1746Val)
c.*4558A>G (n.*4558A>G)
c.230+11858A>G
c.5266A>G (p.Ile1756Val)
c.5161A>G (p.Ile1721Val)
c.5152A>G (p.Ile1718Val)
c.5113A>G (p.Ile1705Val)
c.5059A>G (p.Ile1687Val)
c.4963A>G (p.Ile1655Val)
c.4933A>G (p.Ile1645Val)
c.4858A>G (p.Ile1620Val)
c.4756A>G (p.Ile1586Val)
c.4387A>G (p.Ile1463Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840830A>TCA16032778APCc.5290A>T (p.Ile1764Leu)
c.*5242A>T (n.*5242A>T)
c.5182A>T (p.Ile1728Leu)
c.5236A>T (p.Ile1746Leu)
c.*4558A>T (n.*4558A>T)
c.230+11858A>T
c.5266A>T (p.Ile1756Leu)
c.5161A>T (p.Ile1721Leu)
c.5152A>T (p.Ile1718Leu)
c.5113A>T (p.Ile1705Leu)
c.5059A>T (p.Ile1687Leu)
c.4963A>T (p.Ile1655Leu)
c.4933A>T (p.Ile1645Leu)
c.4858A>T (p.Ile1620Leu)
c.4756A>T (p.Ile1586Leu)
c.4387A>T (p.Ile1463Leu)
5g.112840832_112840834delCA891843024APCc.5292_5294del (p.Ile1764del)
c.*5244_*5246del (n.*5244_*5246del)
c.5184_5186del (p.Ile1728del)
c.5238_5240del (p.Ile1746del)
c.*4560_*4562del (n.*4560_*4562del)
c.230+11860_230+11862del
c.5268_5270del (p.Ile1756del)
c.5163_5165del (p.Ile1721del)
c.5154_5156del (p.Ile1718del)
c.5115_5117del (p.Ile1705del)
c.5061_5063del (p.Ile1687del)
c.4965_4967del (p.Ile1655del)
c.4935_4937del (p.Ile1645del)
c.4860_4862del (p.Ile1620del)
c.4758_4760del (p.Ile1586del)
c.4389_4391del (p.Ile1463del)
 ClinVar dbSNP gnomAD v4
5g.112840831T>ACA16032779APCc.5291T>A (p.Ile1764Lys)
c.*5243T>A (n.*5243T>A)
c.5183T>A (p.Ile1728Lys)
c.5237T>A (p.Ile1746Lys)
c.*4559T>A (n.*4559T>A)
c.230+11859T>A
c.5267T>A (p.Ile1756Lys)
c.5162T>A (p.Ile1721Lys)
c.5153T>A (p.Ile1718Lys)
c.5114T>A (p.Ile1705Lys)
c.5060T>A (p.Ile1687Lys)
c.4964T>A (p.Ile1655Lys)
c.4934T>A (p.Ile1645Lys)
c.4859T>A (p.Ile1620Lys)
c.4757T>A (p.Ile1586Lys)
c.4388T>A (p.Ile1463Lys)
5g.112840831T>CCA16032780APCc.5291T>C (p.Ile1764Thr)
c.*5243T>C (n.*5243T>C)
c.5183T>C (p.Ile1728Thr)
c.5237T>C (p.Ile1746Thr)
c.*4559T>C (n.*4559T>C)
c.230+11859T>C
c.5267T>C (p.Ile1756Thr)
c.5162T>C (p.Ile1721Thr)
c.5153T>C (p.Ile1718Thr)
c.5114T>C (p.Ile1705Thr)
c.5060T>C (p.Ile1687Thr)
c.4964T>C (p.Ile1655Thr)
c.4934T>C (p.Ile1645Thr)
c.4859T>C (p.Ile1620Thr)
c.4757T>C (p.Ile1586Thr)
c.4388T>C (p.Ile1463Thr)
 ClinVar dbSNP
5g.112840831T>GCA16032781APCc.5291T>G (p.Ile1764Arg)
c.*5243T>G (n.*5243T>G)
c.5183T>G (p.Ile1728Arg)
c.5237T>G (p.Ile1746Arg)
c.*4559T>G (n.*4559T>G)
c.230+11859T>G
c.5267T>G (p.Ile1756Arg)
c.5162T>G (p.Ile1721Arg)
c.5153T>G (p.Ile1718Arg)
c.5114T>G (p.Ile1705Arg)
c.5060T>G (p.Ile1687Arg)
c.4964T>G (p.Ile1655Arg)
c.4934T>G (p.Ile1645Arg)
c.4859T>G (p.Ile1620Arg)
c.4757T>G (p.Ile1586Arg)
c.4388T>G (p.Ile1463Arg)
5g.112840831T=CA1573474938APCc.5291T= (p.Ile1764=)
c.*5243T= (n.*5243T=)
c.5183T= (p.Ile1728=)
c.5237T= (p.Ile1746=)
c.*4559T= (n.*4559T=)
c.230+11859T=
c.5267T= (p.Ile1756=)
c.5162T= (p.Ile1721=)
c.5153T= (p.Ile1718=)
c.5114T= (p.Ile1705=)
c.5060T= (p.Ile1687=)
c.4964T= (p.Ile1655=)
c.4934T= (p.Ile1645=)
c.4859T= (p.Ile1620=)
c.4757T= (p.Ile1586=)
c.4388T= (p.Ile1463=)
5g.112840832A>CCA446209658APCc.5292A>C (p.Ile1764=)
c.*5244A>C (n.*5244A>C)
c.5184A>C (p.Ile1728=)
c.5238A>C (p.Ile1746=)
c.*4560A>C (n.*4560A>C)
c.230+11860A>C
c.5268A>C (p.Ile1756=)
c.5163A>C (p.Ile1721=)
c.5154A>C (p.Ile1718=)
c.5115A>C (p.Ile1705=)
c.5061A>C (p.Ile1687=)
c.4965A>C (p.Ile1655=)
c.4935A>C (p.Ile1645=)
c.4860A>C (p.Ile1620=)
c.4758A>C (p.Ile1586=)
c.4389A>C (p.Ile1463=)
5g.112840832A>GCA16032782APCc.5292A>G (p.Ile1764Met)
c.*5244A>G (n.*5244A>G)
c.5184A>G (p.Ile1728Met)
c.5238A>G (p.Ile1746Met)
c.*4560A>G (n.*4560A>G)
c.230+11860A>G
c.5268A>G (p.Ile1756Met)
c.5163A>G (p.Ile1721Met)
c.5154A>G (p.Ile1718Met)
c.5115A>G (p.Ile1705Met)
c.5061A>G (p.Ile1687Met)
c.4965A>G (p.Ile1655Met)
c.4935A>G (p.Ile1645Met)
c.4860A>G (p.Ile1620Met)
c.4758A>G (p.Ile1586Met)
c.4389A>G (p.Ile1463Met)
 dbSNP
5g.112840832A>TCA446209659APCc.5292A>T (p.Ile1764=)
c.*5244A>T (n.*5244A>T)
c.5184A>T (p.Ile1728=)
c.5238A>T (p.Ile1746=)
c.*4560A>T (n.*4560A>T)
c.230+11860A>T
c.5268A>T (p.Ile1756=)
c.5163A>T (p.Ile1721=)
c.5154A>T (p.Ile1718=)
c.5115A>T (p.Ile1705=)
c.5061A>T (p.Ile1687=)
c.4965A>T (p.Ile1655=)
c.4935A>T (p.Ile1645=)
c.4860A>T (p.Ile1620=)
c.4758A>T (p.Ile1586=)
c.4389A>T (p.Ile1463=)
 dbSNP

Number of alleles fetched