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.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.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.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.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.112840834T>ACA16032786APCc.5294T>A (p.Met1765Lys)
c.*5246T>A (n.*5246T>A)
c.5186T>A (p.Met1729Lys)
c.5240T>A (p.Met1747Lys)
c.*4562T>A (n.*4562T>A)
c.230+11862T>A
c.5270T>A (p.Met1757Lys)
c.5165T>A (p.Met1722Lys)
c.5156T>A (p.Met1719Lys)
c.5117T>A (p.Met1706Lys)
c.5063T>A (p.Met1688Lys)
c.4967T>A (p.Met1656Lys)
c.4937T>A (p.Met1646Lys)
c.4862T>A (p.Met1621Lys)
c.4760T>A (p.Met1587Lys)
c.4391T>A (p.Met1464Lys)
5g.112840834T>CCA348841APCc.5294T>C (p.Met1765Thr)
c.*5246T>C (n.*5246T>C)
c.5186T>C (p.Met1729Thr)
c.5240T>C (p.Met1747Thr)
c.*4562T>C (n.*4562T>C)
c.230+11862T>C
c.5270T>C (p.Met1757Thr)
c.5165T>C (p.Met1722Thr)
c.5156T>C (p.Met1719Thr)
c.5117T>C (p.Met1706Thr)
c.5063T>C (p.Met1688Thr)
c.4967T>C (p.Met1656Thr)
c.4937T>C (p.Met1646Thr)
c.4862T>C (p.Met1621Thr)
c.4760T>C (p.Met1587Thr)
c.4391T>C (p.Met1464Thr)
 ClinVar dbSNP gnomAD v4
5g.112840834T>GCA16032787APCc.5294T>G (p.Met1765Arg)
c.*5246T>G (n.*5246T>G)
c.5186T>G (p.Met1729Arg)
c.5240T>G (p.Met1747Arg)
c.*4562T>G (n.*4562T>G)
c.230+11862T>G
c.5270T>G (p.Met1757Arg)
c.5165T>G (p.Met1722Arg)
c.5156T>G (p.Met1719Arg)
c.5117T>G (p.Met1706Arg)
c.5063T>G (p.Met1688Arg)
c.4967T>G (p.Met1656Arg)
c.4937T>G (p.Met1646Arg)
c.4862T>G (p.Met1621Arg)
c.4760T>G (p.Met1587Arg)
c.4391T>G (p.Met1464Arg)
5g.112840834T=CA1573474941APCc.5294T= (p.Met1765=)
c.*5246T= (n.*5246T=)
c.5186T= (p.Met1729=)
c.5240T= (p.Met1747=)
c.*4562T= (n.*4562T=)
c.230+11862T=
c.5270T= (p.Met1757=)
c.5165T= (p.Met1722=)
c.5156T= (p.Met1719=)
c.5117T= (p.Met1706=)
c.5063T= (p.Met1688=)
c.4967T= (p.Met1656=)
c.4937T= (p.Met1646=)
c.4862T= (p.Met1621=)
c.4760T= (p.Met1587=)
c.4391T= (p.Met1464=)
5g.112840835G>ACA16032788APCc.5295G>A (p.Met1765Ile)
c.*5247G>A (n.*5247G>A)
c.5187G>A (p.Met1729Ile)
c.5241G>A (p.Met1747Ile)
c.*4563G>A (n.*4563G>A)
c.230+11863G>A
c.5271G>A (p.Met1757Ile)
c.5166G>A (p.Met1722Ile)
c.5157G>A (p.Met1719Ile)
c.5118G>A (p.Met1706Ile)
c.5064G>A (p.Met1688Ile)
c.4968G>A (p.Met1656Ile)
c.4938G>A (p.Met1646Ile)
c.4863G>A (p.Met1621Ile)
c.4761G>A (p.Met1587Ile)
c.4392G>A (p.Met1464Ile)
 ClinVar dbSNP gnomAD v4
5g.112840835G>CCA16032789APCc.5295G>C (p.Met1765Ile)
c.*5247G>C (n.*5247G>C)
c.5187G>C (p.Met1729Ile)
c.5241G>C (p.Met1747Ile)
c.*4563G>C (n.*4563G>C)
c.230+11863G>C
c.5271G>C (p.Met1757Ile)
c.5166G>C (p.Met1722Ile)
c.5157G>C (p.Met1719Ile)
c.5118G>C (p.Met1706Ile)
c.5064G>C (p.Met1688Ile)
c.4968G>C (p.Met1656Ile)
c.4938G>C (p.Met1646Ile)
c.4863G>C (p.Met1621Ile)
c.4761G>C (p.Met1587Ile)
c.4392G>C (p.Met1464Ile)
 dbSNP
5g.112840835G=CA1573474947APCc.5295G= (p.Met1765=)
c.*5247G= (n.*5247G=)
c.5187G= (p.Met1729=)
c.5241G= (p.Met1747=)
c.*4563G= (n.*4563G=)
c.230+11863G=
c.5271G= (p.Met1757=)
c.5166G= (p.Met1722=)
c.5157G= (p.Met1719=)
c.5118G= (p.Met1706=)
c.5064G= (p.Met1688=)
c.4968G= (p.Met1656=)
c.4938G= (p.Met1646=)
c.4863G= (p.Met1621=)
c.4761G= (p.Met1587=)
c.4392G= (p.Met1464=)
5g.112840835G>TCA16032790APCc.5295G>T (p.Met1765Ile)
c.*5247G>T (n.*5247G>T)
c.5187G>T (p.Met1729Ile)
c.5241G>T (p.Met1747Ile)
c.*4563G>T (n.*4563G>T)
c.230+11863G>T
c.5271G>T (p.Met1757Ile)
c.5166G>T (p.Met1722Ile)
c.5157G>T (p.Met1719Ile)
c.5118G>T (p.Met1706Ile)
c.5064G>T (p.Met1688Ile)
c.4968G>T (p.Met1656Ile)
c.4938G>T (p.Met1646Ile)
c.4863G>T (p.Met1621Ile)
c.4761G>T (p.Met1587Ile)
c.4392G>T (p.Met1464Ile)
5g.112840836G>ACA16032791APCc.5296G>A (p.Asp1766Asn)
c.*5248G>A (n.*5248G>A)
c.5188G>A (p.Asp1730Asn)
c.5242G>A (p.Asp1748Asn)
c.*4564G>A (n.*4564G>A)
c.230+11864G>A
c.5272G>A (p.Asp1758Asn)
c.5167G>A (p.Asp1723Asn)
c.5158G>A (p.Asp1720Asn)
c.5119G>A (p.Asp1707Asn)
c.5065G>A (p.Asp1689Asn)
c.4969G>A (p.Asp1657Asn)
c.4939G>A (p.Asp1647Asn)
c.4864G>A (p.Asp1622Asn)
c.4762G>A (p.Asp1588Asn)
c.4393G>A (p.Asp1465Asn)
 dbSNP COSMIC
5g.112840836G>CCA16032792APCc.5296G>C (p.Asp1766His)
c.*5248G>C (n.*5248G>C)
c.5188G>C (p.Asp1730His)
c.5242G>C (p.Asp1748His)
c.*4564G>C (n.*4564G>C)
c.230+11864G>C
c.5272G>C (p.Asp1758His)
c.5167G>C (p.Asp1723His)
c.5158G>C (p.Asp1720His)
c.5119G>C (p.Asp1707His)
c.5065G>C (p.Asp1689His)
c.4969G>C (p.Asp1657His)
c.4939G>C (p.Asp1647His)
c.4864G>C (p.Asp1622His)
c.4762G>C (p.Asp1588His)
c.4393G>C (p.Asp1465His)
 dbSNP
5g.112840836G>TCA16032793APCc.5296G>T (p.Asp1766Tyr)
c.*5248G>T (n.*5248G>T)
c.5188G>T (p.Asp1730Tyr)
c.5242G>T (p.Asp1748Tyr)
c.*4564G>T (n.*4564G>T)
c.230+11864G>T
c.5272G>T (p.Asp1758Tyr)
c.5167G>T (p.Asp1723Tyr)
c.5158G>T (p.Asp1720Tyr)
c.5119G>T (p.Asp1707Tyr)
c.5065G>T (p.Asp1689Tyr)
c.4969G>T (p.Asp1657Tyr)
c.4939G>T (p.Asp1647Tyr)
c.4864G>T (p.Asp1622Tyr)
c.4762G>T (p.Asp1588Tyr)
c.4393G>T (p.Asp1465Tyr)
 ClinVar dbSNP
5g.112840837A=CA1573474951APCc.5297A= (p.Asp1766=)
c.*5249A= (n.*5249A=)
c.5189A= (p.Asp1730=)
c.5243A= (p.Asp1748=)
c.*4565A= (n.*4565A=)
c.230+11865A=
c.5273A= (p.Asp1758=)
c.5168A= (p.Asp1723=)
c.5159A= (p.Asp1720=)
c.5120A= (p.Asp1707=)
c.5066A= (p.Asp1689=)
c.4970A= (p.Asp1657=)
c.4940A= (p.Asp1647=)
c.4865A= (p.Asp1622=)
c.4763A= (p.Asp1588=)
c.4394A= (p.Asp1465=)
5g.112840837A>CCA16032794APCc.5297A>C (p.Asp1766Ala)
c.*5249A>C (n.*5249A>C)
c.5189A>C (p.Asp1730Ala)
c.5243A>C (p.Asp1748Ala)
c.*4565A>C (n.*4565A>C)
c.230+11865A>C
c.5273A>C (p.Asp1758Ala)
c.5168A>C (p.Asp1723Ala)
c.5159A>C (p.Asp1720Ala)
c.5120A>C (p.Asp1707Ala)
c.5066A>C (p.Asp1689Ala)
c.4970A>C (p.Asp1657Ala)
c.4940A>C (p.Asp1647Ala)
c.4865A>C (p.Asp1622Ala)
c.4763A>C (p.Asp1588Ala)
c.4394A>C (p.Asp1465Ala)
5g.112840837A>GCA16032795APCc.5297A>G (p.Asp1766Gly)
c.*5249A>G (n.*5249A>G)
c.5189A>G (p.Asp1730Gly)
c.5243A>G (p.Asp1748Gly)
c.*4565A>G (n.*4565A>G)
c.230+11865A>G
c.5273A>G (p.Asp1758Gly)
c.5168A>G (p.Asp1723Gly)
c.5159A>G (p.Asp1720Gly)
c.5120A>G (p.Asp1707Gly)
c.5066A>G (p.Asp1689Gly)
c.4970A>G (p.Asp1657Gly)
c.4940A>G (p.Asp1647Gly)
c.4865A>G (p.Asp1622Gly)
c.4763A>G (p.Asp1588Gly)
c.4394A>G (p.Asp1465Gly)
 ClinVar dbSNP
5g.112840837A>TCA16032796APCc.5297A>T (p.Asp1766Val)
c.*5249A>T (n.*5249A>T)
c.5189A>T (p.Asp1730Val)
c.5243A>T (p.Asp1748Val)
c.*4565A>T (n.*4565A>T)
c.230+11865A>T
c.5273A>T (p.Asp1758Val)
c.5168A>T (p.Asp1723Val)
c.5159A>T (p.Asp1720Val)
c.5120A>T (p.Asp1707Val)
c.5066A>T (p.Asp1689Val)
c.4970A>T (p.Asp1657Val)
c.4940A>T (p.Asp1647Val)
c.4865A>T (p.Asp1622Val)
c.4763A>T (p.Asp1588Val)
c.4394A>T (p.Asp1465Val)
5g.112840838C>ACA16032797APCc.5298C>A (p.Asp1766Glu)
c.*5250C>A (n.*5250C>A)
c.5190C>A (p.Asp1730Glu)
c.5244C>A (p.Asp1748Glu)
c.*4566C>A (n.*4566C>A)
c.230+11866C>A
c.5274C>A (p.Asp1758Glu)
c.5169C>A (p.Asp1723Glu)
c.5160C>A (p.Asp1720Glu)
c.5121C>A (p.Asp1707Glu)
c.5067C>A (p.Asp1689Glu)
c.4971C>A (p.Asp1657Glu)
c.4941C>A (p.Asp1647Glu)
c.4866C>A (p.Asp1622Glu)
c.4764C>A (p.Asp1588Glu)
c.4395C>A (p.Asp1465Glu)
 dbSNP
5g.112840838C=CA1573474956APCc.5298C= (p.Asp1766=)
c.*5250C= (n.*5250C=)
c.5190C= (p.Asp1730=)
c.5244C= (p.Asp1748=)
c.*4566C= (n.*4566C=)
c.230+11866C=
c.5274C= (p.Asp1758=)
c.5169C= (p.Asp1723=)
c.5160C= (p.Asp1720=)
c.5121C= (p.Asp1707=)
c.5067C= (p.Asp1689=)
c.4971C= (p.Asp1657=)
c.4941C= (p.Asp1647=)
c.4866C= (p.Asp1622=)
c.4764C= (p.Asp1588=)
c.4395C= (p.Asp1465=)
5g.112840838C>GCA16032798APCc.5298C>G (p.Asp1766Glu)
c.*5250C>G (n.*5250C>G)
c.5190C>G (p.Asp1730Glu)
c.5244C>G (p.Asp1748Glu)
c.*4566C>G (n.*4566C>G)
c.230+11866C>G
c.5274C>G (p.Asp1758Glu)
c.5169C>G (p.Asp1723Glu)
c.5160C>G (p.Asp1720Glu)
c.5121C>G (p.Asp1707Glu)
c.5067C>G (p.Asp1689Glu)
c.4971C>G (p.Asp1657Glu)
c.4941C>G (p.Asp1647Glu)
c.4866C>G (p.Asp1622Glu)
c.4764C>G (p.Asp1588Glu)
c.4395C>G (p.Asp1465Glu)
 dbSNP
5g.112840838C>TCA041032APCc.5298C>T (p.Asp1766=)
c.*5250C>T (n.*5250C>T)
c.5190C>T (p.Asp1730=)
c.5244C>T (p.Asp1748=)
c.*4566C>T (n.*4566C>T)
c.230+11866C>T
c.5274C>T (p.Asp1758=)
c.5169C>T (p.Asp1723=)
c.5160C>T (p.Asp1720=)
c.5121C>T (p.Asp1707=)
c.5067C>T (p.Asp1689=)
c.4971C>T (p.Asp1657=)
c.4941C>T (p.Asp1647=)
c.4866C>T (p.Asp1622=)
c.4764C>T (p.Asp1588=)
c.4395C>T (p.Asp1465=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840839C>ACA16032799APCc.5299C>A (p.Gln1767Lys)
c.*5251C>A (n.*5251C>A)
c.5191C>A (p.Gln1731Lys)
c.5245C>A (p.Gln1749Lys)
c.*4567C>A (n.*4567C>A)
c.230+11867C>A
c.5275C>A (p.Gln1759Lys)
c.5170C>A (p.Gln1724Lys)
c.5161C>A (p.Gln1721Lys)
c.5122C>A (p.Gln1708Lys)
c.5068C>A (p.Gln1690Lys)
c.4972C>A (p.Gln1658Lys)
c.4942C>A (p.Gln1648Lys)
c.4867C>A (p.Gln1623Lys)
c.4765C>A (p.Gln1589Lys)
c.4396C>A (p.Gln1466Lys)
 dbSNP
5g.112840839C=CA1573474968APCc.5299C= (p.Gln1767=)
c.*5251C= (n.*5251C=)
c.5191C= (p.Gln1731=)
c.5245C= (p.Gln1749=)
c.*4567C= (n.*4567C=)
c.230+11867C=
c.5275C= (p.Gln1759=)
c.5170C= (p.Gln1724=)
c.5161C= (p.Gln1721=)
c.5122C= (p.Gln1708=)
c.5068C= (p.Gln1690=)
c.4972C= (p.Gln1658=)
c.4942C= (p.Gln1648=)
c.4867C= (p.Gln1623=)
c.4765C= (p.Gln1589=)
c.4396C= (p.Gln1466=)
5g.112840839C>GCA16032800APCc.5299C>G (p.Gln1767Glu)
c.*5251C>G (n.*5251C>G)
c.5191C>G (p.Gln1731Glu)
c.5245C>G (p.Gln1749Glu)
c.*4567C>G (n.*4567C>G)
c.230+11867C>G
c.5275C>G (p.Gln1759Glu)
c.5170C>G (p.Gln1724Glu)
c.5161C>G (p.Gln1721Glu)
c.5122C>G (p.Gln1708Glu)
c.5068C>G (p.Gln1690Glu)
c.4972C>G (p.Gln1658Glu)
c.4942C>G (p.Gln1648Glu)
c.4867C>G (p.Gln1623Glu)
c.4765C>G (p.Gln1589Glu)
c.4396C>G (p.Gln1466Glu)
 ClinVar dbSNP
5g.112840839C>TCA16032801APCc.5299C>T (p.Gln1767Ter)
c.*5251C>T (n.*5251C>T)
c.5191C>T (p.Gln1731Ter)
c.5245C>T (p.Gln1749Ter)
c.*4567C>T (n.*4567C>T)
c.230+11867C>T
c.5275C>T (p.Gln1759Ter)
c.5170C>T (p.Gln1724Ter)
c.5161C>T (p.Gln1721Ter)
c.5122C>T (p.Gln1708Ter)
c.5068C>T (p.Gln1690Ter)
c.4972C>T (p.Gln1658Ter)
c.4942C>T (p.Gln1648Ter)
c.4867C>T (p.Gln1623Ter)
c.4765C>T (p.Gln1589Ter)
c.4396C>T (p.Gln1466Ter)
 dbSNP
5g.112840840A>CCA16032802APCc.5300A>C (p.Gln1767Pro)
c.*5252A>C (n.*5252A>C)
c.5192A>C (p.Gln1731Pro)
c.5246A>C (p.Gln1749Pro)
c.*4568A>C (n.*4568A>C)
c.230+11868A>C
c.5276A>C (p.Gln1759Pro)
c.5171A>C (p.Gln1724Pro)
c.5162A>C (p.Gln1721Pro)
c.5123A>C (p.Gln1708Pro)
c.5069A>C (p.Gln1690Pro)
c.4973A>C (p.Gln1658Pro)
c.4943A>C (p.Gln1648Pro)
c.4868A>C (p.Gln1623Pro)
c.4766A>C (p.Gln1589Pro)
c.4397A>C (p.Gln1466Pro)
5g.112840840A>GCA16032803APCc.5300A>G (p.Gln1767Arg)
c.*5252A>G (n.*5252A>G)
c.5192A>G (p.Gln1731Arg)
c.5246A>G (p.Gln1749Arg)
c.*4568A>G (n.*4568A>G)
c.230+11868A>G
c.5276A>G (p.Gln1759Arg)
c.5171A>G (p.Gln1724Arg)
c.5162A>G (p.Gln1721Arg)
c.5123A>G (p.Gln1708Arg)
c.5069A>G (p.Gln1690Arg)
c.4973A>G (p.Gln1658Arg)
c.4943A>G (p.Gln1648Arg)
c.4868A>G (p.Gln1623Arg)
c.4766A>G (p.Gln1589Arg)
c.4397A>G (p.Gln1466Arg)
 ClinVar dbSNP gnomAD v4
5g.112840840A>TCA16032804APCc.5300A>T (p.Gln1767Leu)
c.*5252A>T (n.*5252A>T)
c.5192A>T (p.Gln1731Leu)
c.5246A>T (p.Gln1749Leu)
c.*4568A>T (n.*4568A>T)
c.230+11868A>T
c.5276A>T (p.Gln1759Leu)
c.5171A>T (p.Gln1724Leu)
c.5162A>T (p.Gln1721Leu)
c.5123A>T (p.Gln1708Leu)
c.5069A>T (p.Gln1690Leu)
c.4973A>T (p.Gln1658Leu)
c.4943A>T (p.Gln1648Leu)
c.4868A>T (p.Gln1623Leu)
c.4766A>T (p.Gln1589Leu)
c.4397A>T (p.Gln1466Leu)
 dbSNP
5g.112840841G>ACA446209660APCc.5301G>A (p.Gln1767=)
c.*5253G>A (n.*5253G>A)
c.5193G>A (p.Gln1731=)
c.5247G>A (p.Gln1749=)
c.*4569G>A (n.*4569G>A)
c.230+11869G>A
c.5277G>A (p.Gln1759=)
c.5172G>A (p.Gln1724=)
c.5163G>A (p.Gln1721=)
c.5124G>A (p.Gln1708=)
c.5070G>A (p.Gln1690=)
c.4974G>A (p.Gln1658=)
c.4944G>A (p.Gln1648=)
c.4869G>A (p.Gln1623=)
c.4767G>A (p.Gln1589=)
c.4398G>A (p.Gln1466=)
 ClinVar dbSNP
5g.112840841G>CCA16032805APCc.5301G>C (p.Gln1767His)
c.*5253G>C (n.*5253G>C)
c.5193G>C (p.Gln1731His)
c.5247G>C (p.Gln1749His)
c.*4569G>C (n.*4569G>C)
c.230+11869G>C
c.5277G>C (p.Gln1759His)
c.5172G>C (p.Gln1724His)
c.5163G>C (p.Gln1721His)
c.5124G>C (p.Gln1708His)
c.5070G>C (p.Gln1690His)
c.4974G>C (p.Gln1658His)
c.4944G>C (p.Gln1648His)
c.4869G>C (p.Gln1623His)
c.4767G>C (p.Gln1589His)
c.4398G>C (p.Gln1466His)
 dbSNP
5g.112840841G=CA1573474996APCc.5301G= (p.Gln1767=)
c.*5253G= (n.*5253G=)
c.5193G= (p.Gln1731=)
c.5247G= (p.Gln1749=)
c.*4569G= (n.*4569G=)
c.230+11869G=
c.5277G= (p.Gln1759=)
c.5172G= (p.Gln1724=)
c.5163G= (p.Gln1721=)
c.5124G= (p.Gln1708=)
c.5070G= (p.Gln1690=)
c.4974G= (p.Gln1658=)
c.4944G= (p.Gln1648=)
c.4869G= (p.Gln1623=)
c.4767G= (p.Gln1589=)
c.4398G= (p.Gln1466=)
5g.112840841G>TCA16032806APCc.5301G>T (p.Gln1767His)
c.*5253G>T (n.*5253G>T)
c.5193G>T (p.Gln1731His)
c.5247G>T (p.Gln1749His)
c.*4569G>T (n.*4569G>T)
c.230+11869G>T
c.5277G>T (p.Gln1759His)
c.5172G>T (p.Gln1724His)
c.5163G>T (p.Gln1721His)
c.5124G>T (p.Gln1708His)
c.5070G>T (p.Gln1690His)
c.4974G>T (p.Gln1658His)
c.4944G>T (p.Gln1648His)
c.4869G>T (p.Gln1623His)
c.4767G>T (p.Gln1589His)
c.4398G>T (p.Gln1466His)
 ClinVar dbSNP gnomAD v4
5g.112840842G>ACA16032807APCc.5302G>A (p.Val1768Ile)
c.*5254G>A (n.*5254G>A)
c.5194G>A (p.Val1732Ile)
c.5248G>A (p.Val1750Ile)
c.*4570G>A (n.*4570G>A)
c.230+11870G>A
c.5278G>A (p.Val1760Ile)
c.5173G>A (p.Val1725Ile)
c.5164G>A (p.Val1722Ile)
c.5125G>A (p.Val1709Ile)
c.5071G>A (p.Val1691Ile)
c.4975G>A (p.Val1659Ile)
c.4945G>A (p.Val1649Ile)
c.4870G>A (p.Val1624Ile)
c.4768G>A (p.Val1590Ile)
c.4399G>A (p.Val1467Ile)
 ClinVar dbSNP
5g.112840842G>CCA16032808APCc.5302G>C (p.Val1768Leu)
c.*5254G>C (n.*5254G>C)
c.5194G>C (p.Val1732Leu)
c.5248G>C (p.Val1750Leu)
c.*4570G>C (n.*4570G>C)
c.230+11870G>C
c.5278G>C (p.Val1760Leu)
c.5173G>C (p.Val1725Leu)
c.5164G>C (p.Val1722Leu)
c.5125G>C (p.Val1709Leu)
c.5071G>C (p.Val1691Leu)
c.4975G>C (p.Val1659Leu)
c.4945G>C (p.Val1649Leu)
c.4870G>C (p.Val1624Leu)
c.4768G>C (p.Val1590Leu)
c.4399G>C (p.Val1467Leu)
 dbSNP
5g.112840842G=CA1573475009APCc.5302G= (p.Val1768=)
c.*5254G= (n.*5254G=)
c.5194G= (p.Val1732=)
c.5248G= (p.Val1750=)
c.*4570G= (n.*4570G=)
c.230+11870G=
c.5278G= (p.Val1760=)
c.5173G= (p.Val1725=)
c.5164G= (p.Val1722=)
c.5125G= (p.Val1709=)
c.5071G= (p.Val1691=)
c.4975G= (p.Val1659=)
c.4945G= (p.Val1649=)
c.4870G= (p.Val1624=)
c.4768G= (p.Val1590=)
c.4399G= (p.Val1467=)
5g.112840842G>TCA16032809APCc.5302G>T (p.Val1768Phe)
c.*5254G>T (n.*5254G>T)
c.5194G>T (p.Val1732Phe)
c.5248G>T (p.Val1750Phe)
c.*4570G>T (n.*4570G>T)
c.230+11870G>T
c.5278G>T (p.Val1760Phe)
c.5173G>T (p.Val1725Phe)
c.5164G>T (p.Val1722Phe)
c.5125G>T (p.Val1709Phe)
c.5071G>T (p.Val1691Phe)
c.4975G>T (p.Val1659Phe)
c.4945G>T (p.Val1649Phe)
c.4870G>T (p.Val1624Phe)
c.4768G>T (p.Val1590Phe)
c.4399G>T (p.Val1467Phe)
 dbSNP
5g.112840843T>ACA16032810APCc.5303T>A (p.Val1768Asp)
c.*5255T>A (n.*5255T>A)
c.5195T>A (p.Val1732Asp)
c.5249T>A (p.Val1750Asp)
c.*4571T>A (n.*4571T>A)
c.230+11871T>A
c.5279T>A (p.Val1760Asp)
c.5174T>A (p.Val1725Asp)
c.5165T>A (p.Val1722Asp)
c.5126T>A (p.Val1709Asp)
c.5072T>A (p.Val1691Asp)
c.4976T>A (p.Val1659Asp)
c.4946T>A (p.Val1649Asp)
c.4871T>A (p.Val1624Asp)
c.4769T>A (p.Val1590Asp)
c.4400T>A (p.Val1467Asp)
5g.112840843T>CCA16032811APCc.5303T>C (p.Val1768Ala)
c.*5255T>C (n.*5255T>C)
c.5195T>C (p.Val1732Ala)
c.5249T>C (p.Val1750Ala)
c.*4571T>C (n.*4571T>C)
c.230+11871T>C
c.5279T>C (p.Val1760Ala)
c.5174T>C (p.Val1725Ala)
c.5165T>C (p.Val1722Ala)
c.5126T>C (p.Val1709Ala)
c.5072T>C (p.Val1691Ala)
c.4976T>C (p.Val1659Ala)
c.4946T>C (p.Val1649Ala)
c.4871T>C (p.Val1624Ala)
c.4769T>C (p.Val1590Ala)
c.4400T>C (p.Val1467Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840843T>GCA16032812APCc.5303T>G (p.Val1768Gly)
c.*5255T>G (n.*5255T>G)
c.5195T>G (p.Val1732Gly)
c.5249T>G (p.Val1750Gly)
c.*4571T>G (n.*4571T>G)
c.230+11871T>G
c.5279T>G (p.Val1760Gly)
c.5174T>G (p.Val1725Gly)
c.5165T>G (p.Val1722Gly)
c.5126T>G (p.Val1709Gly)
c.5072T>G (p.Val1691Gly)
c.4976T>G (p.Val1659Gly)
c.4946T>G (p.Val1649Gly)
c.4871T>G (p.Val1624Gly)
c.4769T>G (p.Val1590Gly)
c.4400T>G (p.Val1467Gly)
5g.112840843T=CA1573475036APCc.5303T= (p.Val1768=)
c.*5255T= (n.*5255T=)
c.5195T= (p.Val1732=)
c.5249T= (p.Val1750=)
c.*4571T= (n.*4571T=)
c.230+11871T=
c.5279T= (p.Val1760=)
c.5174T= (p.Val1725=)
c.5165T= (p.Val1722=)
c.5126T= (p.Val1709=)
c.5072T= (p.Val1691=)
c.4976T= (p.Val1659=)
c.4946T= (p.Val1649=)
c.4871T= (p.Val1624=)
c.4769T= (p.Val1590=)
c.4400T= (p.Val1467=)
5g.112840844C>ACA446209661APCc.5304C>A (p.Val1768=)
c.*5256C>A (n.*5256C>A)
c.5196C>A (p.Val1732=)
c.5250C>A (p.Val1750=)
c.*4572C>A (n.*4572C>A)
c.230+11872C>A
c.5280C>A (p.Val1760=)
c.5175C>A (p.Val1725=)
c.5166C>A (p.Val1722=)
c.5127C>A (p.Val1709=)
c.5073C>A (p.Val1691=)
c.4977C>A (p.Val1659=)
c.4947C>A (p.Val1649=)
c.4872C>A (p.Val1624=)
c.4770C>A (p.Val1590=)
c.4401C>A (p.Val1467=)
 ClinVar dbSNP gnomAD v4
5g.112840844C=CA1573475051APCc.5304C= (p.Val1768=)
c.*5256C= (n.*5256C=)
c.5196C= (p.Val1732=)
c.5250C= (p.Val1750=)
c.*4572C= (n.*4572C=)
c.230+11872C=
c.5280C= (p.Val1760=)
c.5175C= (p.Val1725=)
c.5166C= (p.Val1722=)
c.5127C= (p.Val1709=)
c.5073C= (p.Val1691=)
c.4977C= (p.Val1659=)
c.4947C= (p.Val1649=)
c.4872C= (p.Val1624=)
c.4770C= (p.Val1590=)
c.4401C= (p.Val1467=)
5g.112840844C>GCA009956APCc.5304C>G (p.Val1768=)
c.*5256C>G (n.*5256C>G)
c.5196C>G (p.Val1732=)
c.5250C>G (p.Val1750=)
c.*4572C>G (n.*4572C>G)
c.230+11872C>G
c.5280C>G (p.Val1760=)
c.5175C>G (p.Val1725=)
c.5166C>G (p.Val1722=)
c.5127C>G (p.Val1709=)
c.5073C>G (p.Val1691=)
c.4977C>G (p.Val1659=)
c.4947C>G (p.Val1649=)
c.4872C>G (p.Val1624=)
c.4770C>G (p.Val1590=)
c.4401C>G (p.Val1467=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840844C>TCA009963APCc.5304C>T (p.Val1768=)
c.*5256C>T (n.*5256C>T)
c.5196C>T (p.Val1732=)
c.5250C>T (p.Val1750=)
c.*4572C>T (n.*4572C>T)
c.230+11872C>T
c.5280C>T (p.Val1760=)
c.5175C>T (p.Val1725=)
c.5166C>T (p.Val1722=)
c.5127C>T (p.Val1709=)
c.5073C>T (p.Val1691=)
c.4977C>T (p.Val1659=)
c.4947C>T (p.Val1649=)
c.4872C>T (p.Val1624=)
c.4770C>T (p.Val1590=)
c.4401C>T (p.Val1467=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112840845C>ACA16032813APCc.5305C>A (p.Gln1769Lys)
c.*5257C>A (n.*5257C>A)
c.5197C>A (p.Gln1733Lys)
c.5251C>A (p.Gln1751Lys)
c.*4573C>A (n.*4573C>A)
c.230+11873C>A
c.5281C>A (p.Gln1761Lys)
c.5176C>A (p.Gln1726Lys)
c.5167C>A (p.Gln1723Lys)
c.5128C>A (p.Gln1710Lys)
c.5074C>A (p.Gln1692Lys)
c.4978C>A (p.Gln1660Lys)
c.4948C>A (p.Gln1650Lys)
c.4873C>A (p.Gln1625Lys)
c.4771C>A (p.Gln1591Lys)
c.4402C>A (p.Gln1468Lys)
 dbSNP
5g.112840845C>GCA16032814APCc.5305C>G (p.Gln1769Glu)
c.*5257C>G (n.*5257C>G)
c.5197C>G (p.Gln1733Glu)
c.5251C>G (p.Gln1751Glu)
c.*4573C>G (n.*4573C>G)
c.230+11873C>G
c.5281C>G (p.Gln1761Glu)
c.5176C>G (p.Gln1726Glu)
c.5167C>G (p.Gln1723Glu)
c.5128C>G (p.Gln1710Glu)
c.5074C>G (p.Gln1692Glu)
c.4978C>G (p.Gln1660Glu)
c.4948C>G (p.Gln1650Glu)
c.4873C>G (p.Gln1625Glu)
c.4771C>G (p.Gln1591Glu)
c.4402C>G (p.Gln1468Glu)
 dbSNP
5g.112840845C>TCA16032815APCc.5305C>T (p.Gln1769Ter)
c.*5257C>T (n.*5257C>T)
c.5197C>T (p.Gln1733Ter)
c.5251C>T (p.Gln1751Ter)
c.*4573C>T (n.*4573C>T)
c.230+11873C>T
c.5281C>T (p.Gln1761Ter)
c.5176C>T (p.Gln1726Ter)
c.5167C>T (p.Gln1723Ter)
c.5128C>T (p.Gln1710Ter)
c.5074C>T (p.Gln1692Ter)
c.4978C>T (p.Gln1660Ter)
c.4948C>T (p.Gln1650Ter)
c.4873C>T (p.Gln1625Ter)
c.4771C>T (p.Gln1591Ter)
c.4402C>T (p.Gln1468Ter)
 dbSNP
5g.112840846delCA1139770823APCc.5306del (p.Gln1769ArgfsTer15)
c.*5258del (n.*5258del)
c.5198del (p.Gln1733ArgfsTer15)
c.5252del (p.Gln1751ArgfsTer15)
c.*4574del (n.*4574del)
c.230+11874del
c.5282del (p.Gln1761ArgfsTer15)
c.5177del (p.Gln1726ArgfsTer15)
c.5168del (p.Gln1723ArgfsTer15)
c.5129del (p.Gln1710ArgfsTer15)
c.5075del (p.Gln1692ArgfsTer15)
c.4979del (p.Gln1660ArgfsTer15)
c.4949del (p.Gln1650ArgfsTer15)
c.4874del (p.Gln1625ArgfsTer15)
c.4772del (p.Gln1591ArgfsTer15)
c.4403del (p.Gln1468ArgfsTer15)
 ClinVar
5g.112840846A=CA1573475066APCc.5306A= (p.Gln1769=)
c.*5258A= (n.*5258A=)
c.5198A= (p.Gln1733=)
c.5252A= (p.Gln1751=)
c.*4574A= (n.*4574A=)
c.230+11874A=
c.5282A= (p.Gln1761=)
c.5177A= (p.Gln1726=)
c.5168A= (p.Gln1723=)
c.5129A= (p.Gln1710=)
c.5075A= (p.Gln1692=)
c.4979A= (p.Gln1660=)
c.4949A= (p.Gln1650=)
c.4874A= (p.Gln1625=)
c.4772A= (p.Gln1591=)
c.4403A= (p.Gln1468=)
5g.112840846A>CCA16032816APCc.5306A>C (p.Gln1769Pro)
c.*5258A>C (n.*5258A>C)
c.5198A>C (p.Gln1733Pro)
c.5252A>C (p.Gln1751Pro)
c.*4574A>C (n.*4574A>C)
c.230+11874A>C
c.5282A>C (p.Gln1761Pro)
c.5177A>C (p.Gln1726Pro)
c.5168A>C (p.Gln1723Pro)
c.5129A>C (p.Gln1710Pro)
c.5075A>C (p.Gln1692Pro)
c.4979A>C (p.Gln1660Pro)
c.4949A>C (p.Gln1650Pro)
c.4874A>C (p.Gln1625Pro)
c.4772A>C (p.Gln1591Pro)
c.4403A>C (p.Gln1468Pro)
 ClinVar dbSNP
5g.112840846A>GCA16032817APCc.5306A>G (p.Gln1769Arg)
c.*5258A>G (n.*5258A>G)
c.5198A>G (p.Gln1733Arg)
c.5252A>G (p.Gln1751Arg)
c.*4574A>G (n.*4574A>G)
c.230+11874A>G
c.5282A>G (p.Gln1761Arg)
c.5177A>G (p.Gln1726Arg)
c.5168A>G (p.Gln1723Arg)
c.5129A>G (p.Gln1710Arg)
c.5075A>G (p.Gln1692Arg)
c.4979A>G (p.Gln1660Arg)
c.4949A>G (p.Gln1650Arg)
c.4874A>G (p.Gln1625Arg)
c.4772A>G (p.Gln1591Arg)
c.4403A>G (p.Gln1468Arg)
 ClinVar dbSNP
5g.112840846A>TCA16032818APCc.5306A>T (p.Gln1769Leu)
c.*5258A>T (n.*5258A>T)
c.5198A>T (p.Gln1733Leu)
c.5252A>T (p.Gln1751Leu)
c.*4574A>T (n.*4574A>T)
c.230+11874A>T
c.5282A>T (p.Gln1761Leu)
c.5177A>T (p.Gln1726Leu)
c.5168A>T (p.Gln1723Leu)
c.5129A>T (p.Gln1710Leu)
c.5075A>T (p.Gln1692Leu)
c.4979A>T (p.Gln1660Leu)
c.4949A>T (p.Gln1650Leu)
c.4874A>T (p.Gln1625Leu)
c.4772A>T (p.Gln1591Leu)
c.4403A>T (p.Gln1468Leu)
 dbSNP gnomAD v4
5g.112840847G>ACA446209662APCc.5307G>A (p.Gln1769=)
c.*5259G>A (n.*5259G>A)
c.5199G>A (p.Gln1733=)
c.5253G>A (p.Gln1751=)
c.*4575G>A (n.*4575G>A)
c.230+11875G>A
c.5283G>A (p.Gln1761=)
c.5178G>A (p.Gln1726=)
c.5169G>A (p.Gln1723=)
c.5130G>A (p.Gln1710=)
c.5076G>A (p.Gln1692=)
c.4980G>A (p.Gln1660=)
c.4950G>A (p.Gln1650=)
c.4875G>A (p.Gln1625=)
c.4773G>A (p.Gln1591=)
c.4404G>A (p.Gln1468=)
 ClinVar dbSNP gnomAD v4
5g.112840847G>CCA16032819APCc.5307G>C (p.Gln1769His)
c.*5259G>C (n.*5259G>C)
c.5199G>C (p.Gln1733His)
c.5253G>C (p.Gln1751His)
c.*4575G>C (n.*4575G>C)
c.230+11875G>C
c.5283G>C (p.Gln1761His)
c.5178G>C (p.Gln1726His)
c.5169G>C (p.Gln1723His)
c.5130G>C (p.Gln1710His)
c.5076G>C (p.Gln1692His)
c.4980G>C (p.Gln1660His)
c.4950G>C (p.Gln1650His)
c.4875G>C (p.Gln1625His)
c.4773G>C (p.Gln1591His)
c.4404G>C (p.Gln1468His)
 dbSNP
5g.112840847G=CA1573475074APCc.5307G= (p.Gln1769=)
c.*5259G= (n.*5259G=)
c.5199G= (p.Gln1733=)
c.5253G= (p.Gln1751=)
c.*4575G= (n.*4575G=)
c.230+11875G=
c.5283G= (p.Gln1761=)
c.5178G= (p.Gln1726=)
c.5169G= (p.Gln1723=)
c.5130G= (p.Gln1710=)
c.5076G= (p.Gln1692=)
c.4980G= (p.Gln1660=)
c.4950G= (p.Gln1650=)
c.4875G= (p.Gln1625=)
c.4773G= (p.Gln1591=)
c.4404G= (p.Gln1468=)
5g.112840847G>TCA16032820APCc.5307G>T (p.Gln1769His)
c.*5259G>T (n.*5259G>T)
c.5199G>T (p.Gln1733His)
c.5253G>T (p.Gln1751His)
c.*4575G>T (n.*4575G>T)
c.230+11875G>T
c.5283G>T (p.Gln1761His)
c.5178G>T (p.Gln1726His)
c.5169G>T (p.Gln1723His)
c.5130G>T (p.Gln1710His)
c.5076G>T (p.Gln1692His)
c.4980G>T (p.Gln1660His)
c.4950G>T (p.Gln1650His)
c.4875G>T (p.Gln1625His)
c.4773G>T (p.Gln1591His)
c.4404G>T (p.Gln1468His)
5g.112840847_112840852delinsTTCA2582341423APCc.5307_5312delinsTT (p.Gln1769HisfsTer14)
c.*5259_*5264delinsTT (n.*5259_*5264delinsTT)
c.5199_5204delinsTT (p.Gln1733HisfsTer14)
c.5253_5258delinsTT (p.Gln1751HisfsTer14)
c.*4575_*4580delinsTT (n.*4575_*4580delinsTT)
c.230+11875_230+11880delinsTT
c.5283_5288delinsTT (p.Gln1761HisfsTer14)
c.5178_5183delinsTT (p.Gln1726HisfsTer14)
c.5169_5174delinsTT (p.Gln1723HisfsTer14)
c.5130_5135delinsTT (p.Gln1710HisfsTer14)
c.5076_5081delinsTT (p.Gln1692HisfsTer14)
c.4980_4985delinsTT (p.Gln1660HisfsTer14)
c.4950_4955delinsTT (p.Gln1650HisfsTer14)
c.4875_4880delinsTT (p.Gln1625HisfsTer14)
c.4773_4778delinsTT (p.Gln1591HisfsTer14)
c.4404_4409delinsTT (p.Gln1468HisfsTer14)
 ClinVar
5g.112840848C>ACA16032821APCc.5308C>A (p.Gln1770Lys)
c.*5260C>A (n.*5260C>A)
c.5200C>A (p.Gln1734Lys)
c.5254C>A (p.Gln1752Lys)
c.*4576C>A (n.*4576C>A)
c.230+11876C>A
c.5284C>A (p.Gln1762Lys)
c.5179C>A (p.Gln1727Lys)
c.5170C>A (p.Gln1724Lys)
c.5131C>A (p.Gln1711Lys)
c.5077C>A (p.Gln1693Lys)
c.4981C>A (p.Gln1661Lys)
c.4951C>A (p.Gln1651Lys)
c.4876C>A (p.Gln1626Lys)
c.4774C>A (p.Gln1592Lys)
c.4405C>A (p.Gln1469Lys)
 dbSNP
5g.112840848C>GCA16032822APCc.5308C>G (p.Gln1770Glu)
c.*5260C>G (n.*5260C>G)
c.5200C>G (p.Gln1734Glu)
c.5254C>G (p.Gln1752Glu)
c.*4576C>G (n.*4576C>G)
c.230+11876C>G
c.5284C>G (p.Gln1762Glu)
c.5179C>G (p.Gln1727Glu)
c.5170C>G (p.Gln1724Glu)
c.5131C>G (p.Gln1711Glu)
c.5077C>G (p.Gln1693Glu)
c.4981C>G (p.Gln1661Glu)
c.4951C>G (p.Gln1651Glu)
c.4876C>G (p.Gln1626Glu)
c.4774C>G (p.Gln1592Glu)
c.4405C>G (p.Gln1469Glu)
 ClinVar dbSNP
5g.112840848C>TCA16032823APCc.5308C>T (p.Gln1770Ter)
c.*5260C>T (n.*5260C>T)
c.5200C>T (p.Gln1734Ter)
c.5254C>T (p.Gln1752Ter)
c.*4576C>T (n.*4576C>T)
c.230+11876C>T
c.5284C>T (p.Gln1762Ter)
c.5179C>T (p.Gln1727Ter)
c.5170C>T (p.Gln1724Ter)
c.5131C>T (p.Gln1711Ter)
c.5077C>T (p.Gln1693Ter)
c.4981C>T (p.Gln1661Ter)
c.4951C>T (p.Gln1651Ter)
c.4876C>T (p.Gln1626Ter)
c.4774C>T (p.Gln1592Ter)
c.4405C>T (p.Gln1469Ter)
 dbSNP
5g.112840849A=CA1573475077APCc.5309A= (p.Gln1770=)
c.*5261A= (n.*5261A=)
c.5201A= (p.Gln1734=)
c.5255A= (p.Gln1752=)
c.*4577A= (n.*4577A=)
c.230+11877A=
c.5285A= (p.Gln1762=)
c.5180A= (p.Gln1727=)
c.5171A= (p.Gln1724=)
c.5132A= (p.Gln1711=)
c.5078A= (p.Gln1693=)
c.4982A= (p.Gln1661=)
c.4952A= (p.Gln1651=)
c.4877A= (p.Gln1626=)
c.4775A= (p.Gln1592=)
c.4406A= (p.Gln1469=)
5g.112840849A>CCA16032824APCc.5309A>C (p.Gln1770Pro)
c.*5261A>C (n.*5261A>C)
c.5201A>C (p.Gln1734Pro)
c.5255A>C (p.Gln1752Pro)
c.*4577A>C (n.*4577A>C)
c.230+11877A>C
c.5285A>C (p.Gln1762Pro)
c.5180A>C (p.Gln1727Pro)
c.5171A>C (p.Gln1724Pro)
c.5132A>C (p.Gln1711Pro)
c.5078A>C (p.Gln1693Pro)
c.4982A>C (p.Gln1661Pro)
c.4952A>C (p.Gln1651Pro)
c.4877A>C (p.Gln1626Pro)
c.4775A>C (p.Gln1592Pro)
c.4406A>C (p.Gln1469Pro)
5g.112840849A>GCA16032825APCc.5309A>G (p.Gln1770Arg)
c.*5261A>G (n.*5261A>G)
c.5201A>G (p.Gln1734Arg)
c.5255A>G (p.Gln1752Arg)
c.*4577A>G (n.*4577A>G)
c.230+11877A>G
c.5285A>G (p.Gln1762Arg)
c.5180A>G (p.Gln1727Arg)
c.5171A>G (p.Gln1724Arg)
c.5132A>G (p.Gln1711Arg)
c.5078A>G (p.Gln1693Arg)
c.4982A>G (p.Gln1661Arg)
c.4952A>G (p.Gln1651Arg)
c.4877A>G (p.Gln1626Arg)
c.4775A>G (p.Gln1592Arg)
c.4406A>G (p.Gln1469Arg)
5g.112840849A>TCA16032826APCc.5309A>T (p.Gln1770Leu)
c.*5261A>T (n.*5261A>T)
c.5201A>T (p.Gln1734Leu)
c.5255A>T (p.Gln1752Leu)
c.*4577A>T (n.*4577A>T)
c.230+11877A>T
c.5285A>T (p.Gln1762Leu)
c.5180A>T (p.Gln1727Leu)
c.5171A>T (p.Gln1724Leu)
c.5132A>T (p.Gln1711Leu)
c.5078A>T (p.Gln1693Leu)
c.4982A>T (p.Gln1661Leu)
c.4952A>T (p.Gln1651Leu)
c.4877A>T (p.Gln1626Leu)
c.4775A>T (p.Gln1592Leu)
c.4406A>T (p.Gln1469Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840850A>CCA16032827APCc.5310A>C (p.Gln1770His)
c.*5262A>C (n.*5262A>C)
c.5202A>C (p.Gln1734His)
c.5256A>C (p.Gln1752His)
c.*4578A>C (n.*4578A>C)
c.230+11878A>C
c.5286A>C (p.Gln1762His)
c.5181A>C (p.Gln1727His)
c.5172A>C (p.Gln1724His)
c.5133A>C (p.Gln1711His)
c.5079A>C (p.Gln1693His)
c.4983A>C (p.Gln1661His)
c.4953A>C (p.Gln1651His)
c.4878A>C (p.Gln1626His)
c.4776A>C (p.Gln1592His)
c.4407A>C (p.Gln1469His)
5g.112840850A>GCA446209663APCc.5310A>G (p.Gln1770=)
c.*5262A>G (n.*5262A>G)
c.5202A>G (p.Gln1734=)
c.5256A>G (p.Gln1752=)
c.*4578A>G (n.*4578A>G)
c.230+11878A>G
c.5286A>G (p.Gln1762=)
c.5181A>G (p.Gln1727=)
c.5172A>G (p.Gln1724=)
c.5133A>G (p.Gln1711=)
c.5079A>G (p.Gln1693=)
c.4983A>G (p.Gln1661=)
c.4953A>G (p.Gln1651=)
c.4878A>G (p.Gln1626=)
c.4776A>G (p.Gln1592=)
c.4407A>G (p.Gln1469=)
 dbSNP
5g.112840850A>TCA16032828APCc.5310A>T (p.Gln1770His)
c.*5262A>T (n.*5262A>T)
c.5202A>T (p.Gln1734His)
c.5256A>T (p.Gln1752His)
c.*4578A>T (n.*4578A>T)
c.230+11878A>T
c.5286A>T (p.Gln1762His)
c.5181A>T (p.Gln1727His)
c.5172A>T (p.Gln1724His)
c.5133A>T (p.Gln1711His)
c.5079A>T (p.Gln1693His)
c.4983A>T (p.Gln1661His)
c.4953A>T (p.Gln1651His)
c.4878A>T (p.Gln1626His)
c.4776A>T (p.Gln1592His)
c.4407A>T (p.Gln1469His)
 dbSNP
5g.112840851G>ACA16032829APCc.5311G>A (p.Ala1771Thr)
c.*5263G>A (n.*5263G>A)
c.5203G>A (p.Ala1735Thr)
c.5257G>A (p.Ala1753Thr)
c.*4579G>A (n.*4579G>A)
c.230+11879G>A
c.5287G>A (p.Ala1763Thr)
c.5182G>A (p.Ala1728Thr)
c.5173G>A (p.Ala1725Thr)
c.5134G>A (p.Ala1712Thr)
c.5080G>A (p.Ala1694Thr)
c.4984G>A (p.Ala1662Thr)
c.4954G>A (p.Ala1652Thr)
c.4879G>A (p.Ala1627Thr)
c.4777G>A (p.Ala1593Thr)
c.4408G>A (p.Ala1470Thr)
 ClinVar dbSNP gnomAD v4
5g.112840851G>CCA009970APCc.5311G>C (p.Ala1771Pro)
c.*5263G>C (n.*5263G>C)
c.5203G>C (p.Ala1735Pro)
c.5257G>C (p.Ala1753Pro)
c.*4579G>C (n.*4579G>C)
c.230+11879G>C
c.5287G>C (p.Ala1763Pro)
c.5182G>C (p.Ala1728Pro)
c.5173G>C (p.Ala1725Pro)
c.5134G>C (p.Ala1712Pro)
c.5080G>C (p.Ala1694Pro)
c.4984G>C (p.Ala1662Pro)
c.4954G>C (p.Ala1652Pro)
c.4879G>C (p.Ala1627Pro)
c.4777G>C (p.Ala1593Pro)
c.4408G>C (p.Ala1470Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840851G=CA1573475098APCc.5311G= (p.Ala1771=)
c.*5263G= (n.*5263G=)
c.5203G= (p.Ala1735=)
c.5257G= (p.Ala1753=)
c.*4579G= (n.*4579G=)
c.230+11879G=
c.5287G= (p.Ala1763=)
c.5182G= (p.Ala1728=)
c.5173G= (p.Ala1725=)
c.5134G= (p.Ala1712=)
c.5080G= (p.Ala1694=)
c.4984G= (p.Ala1662=)
c.4954G= (p.Ala1652=)
c.4879G= (p.Ala1627=)
c.4777G= (p.Ala1593=)
c.4408G= (p.Ala1470=)
5g.112840851G>TCA009977APCc.5311G>T (p.Ala1771Ser)
c.*5263G>T (n.*5263G>T)
c.5203G>T (p.Ala1735Ser)
c.5257G>T (p.Ala1753Ser)
c.*4579G>T (n.*4579G>T)
c.230+11879G>T
c.5287G>T (p.Ala1763Ser)
c.5182G>T (p.Ala1728Ser)
c.5173G>T (p.Ala1725Ser)
c.5134G>T (p.Ala1712Ser)
c.5080G>T (p.Ala1694Ser)
c.4984G>T (p.Ala1662Ser)
c.4954G>T (p.Ala1652Ser)
c.4879G>T (p.Ala1627Ser)
c.4777G>T (p.Ala1593Ser)
c.4408G>T (p.Ala1470Ser)
 ClinVar dbSNP
5g.112840852C>ACA16032830APCc.5312C>A (p.Ala1771Glu)
c.*5264C>A (n.*5264C>A)
c.5204C>A (p.Ala1735Glu)
c.5258C>A (p.Ala1753Glu)
c.*4580C>A (n.*4580C>A)
c.230+11880C>A
c.5288C>A (p.Ala1763Glu)
c.5183C>A (p.Ala1728Glu)
c.5174C>A (p.Ala1725Glu)
c.5135C>A (p.Ala1712Glu)
c.5081C>A (p.Ala1694Glu)
c.4985C>A (p.Ala1662Glu)
c.4955C>A (p.Ala1652Glu)
c.4880C>A (p.Ala1627Glu)
c.4778C>A (p.Ala1593Glu)
c.4409C>A (p.Ala1470Glu)
 dbSNP
5g.112840852C>GCA16032831APCc.5312C>G (p.Ala1771Gly)
c.*5264C>G (n.*5264C>G)
c.5204C>G (p.Ala1735Gly)
c.5258C>G (p.Ala1753Gly)
c.*4580C>G (n.*4580C>G)
c.230+11880C>G
c.5288C>G (p.Ala1763Gly)
c.5183C>G (p.Ala1728Gly)
c.5174C>G (p.Ala1725Gly)
c.5135C>G (p.Ala1712Gly)
c.5081C>G (p.Ala1694Gly)
c.4985C>G (p.Ala1662Gly)
c.4955C>G (p.Ala1652Gly)
c.4880C>G (p.Ala1627Gly)
c.4778C>G (p.Ala1593Gly)
c.4409C>G (p.Ala1470Gly)
 dbSNP
5g.112840852C>TCA16032832APCc.5312C>T (p.Ala1771Val)
c.*5264C>T (n.*5264C>T)
c.5204C>T (p.Ala1735Val)
c.5258C>T (p.Ala1753Val)
c.*4580C>T (n.*4580C>T)
c.230+11880C>T
c.5288C>T (p.Ala1763Val)
c.5183C>T (p.Ala1728Val)
c.5174C>T (p.Ala1725Val)
c.5135C>T (p.Ala1712Val)
c.5081C>T (p.Ala1694Val)
c.4985C>T (p.Ala1662Val)
c.4955C>T (p.Ala1652Val)
c.4880C>T (p.Ala1627Val)
c.4778C>T (p.Ala1593Val)
c.4409C>T (p.Ala1470Val)
 dbSNP
5g.112840853A>CCA446209665APCc.5313A>C (p.Ala1771=)
c.*5265A>C (n.*5265A>C)
c.5205A>C (p.Ala1735=)
c.5259A>C (p.Ala1753=)
c.*4581A>C (n.*4581A>C)
c.230+11881A>C
c.5289A>C (p.Ala1763=)
c.5184A>C (p.Ala1728=)
c.5175A>C (p.Ala1725=)
c.5136A>C (p.Ala1712=)
c.5082A>C (p.Ala1694=)
c.4986A>C (p.Ala1662=)
c.4956A>C (p.Ala1652=)
c.4881A>C (p.Ala1627=)
c.4779A>C (p.Ala1593=)
c.4410A>C (p.Ala1470=)
 ClinVar
5g.112840853A>GCA446209666APCc.5313A>G (p.Ala1771=)
c.*5265A>G (n.*5265A>G)
c.5205A>G (p.Ala1735=)
c.5259A>G (p.Ala1753=)
c.*4581A>G (n.*4581A>G)
c.230+11881A>G
c.5289A>G (p.Ala1763=)
c.5184A>G (p.Ala1728=)
c.5175A>G (p.Ala1725=)
c.5136A>G (p.Ala1712=)
c.5082A>G (p.Ala1694=)
c.4986A>G (p.Ala1662=)
c.4956A>G (p.Ala1652=)
c.4881A>G (p.Ala1627=)
c.4779A>G (p.Ala1593=)
c.4410A>G (p.Ala1470=)
 ClinVar
5g.112840853A>TCA446209667APCc.5313A>T (p.Ala1771=)
c.*5265A>T (n.*5265A>T)
c.5205A>T (p.Ala1735=)
c.5259A>T (p.Ala1753=)
c.*4581A>T (n.*4581A>T)
c.230+11881A>T
c.5289A>T (p.Ala1763=)
c.5184A>T (p.Ala1728=)
c.5175A>T (p.Ala1725=)
c.5136A>T (p.Ala1712=)
c.5082A>T (p.Ala1694=)
c.4986A>T (p.Ala1662=)
c.4956A>T (p.Ala1652=)
c.4881A>T (p.Ala1627=)
c.4779A>T (p.Ala1593=)
c.4410A>T (p.Ala1470=)
5g.112840854T>ACA16032833APCc.5314T>A (p.Ser1772Thr)
c.*5266T>A (n.*5266T>A)
c.5206T>A (p.Ser1736Thr)
c.5260T>A (p.Ser1754Thr)
c.*4582T>A (n.*4582T>A)
c.230+11882T>A
c.5290T>A (p.Ser1764Thr)
c.5185T>A (p.Ser1729Thr)
c.5176T>A (p.Ser1726Thr)
c.5137T>A (p.Ser1713Thr)
c.5083T>A (p.Ser1695Thr)
c.4987T>A (p.Ser1663Thr)
c.4957T>A (p.Ser1653Thr)
c.4882T>A (p.Ser1628Thr)
c.4780T>A (p.Ser1594Thr)
c.4411T>A (p.Ser1471Thr)
 dbSNP
5g.112840854T>CCA16032834APCc.5314T>C (p.Ser1772Pro)
c.*5266T>C (n.*5266T>C)
c.5206T>C (p.Ser1736Pro)
c.5260T>C (p.Ser1754Pro)
c.*4582T>C (n.*4582T>C)
c.230+11882T>C
c.5290T>C (p.Ser1764Pro)
c.5185T>C (p.Ser1729Pro)
c.5176T>C (p.Ser1726Pro)
c.5137T>C (p.Ser1713Pro)
c.5083T>C (p.Ser1695Pro)
c.4987T>C (p.Ser1663Pro)
c.4957T>C (p.Ser1653Pro)
c.4882T>C (p.Ser1628Pro)
c.4780T>C (p.Ser1594Pro)
c.4411T>C (p.Ser1471Pro)
 gnomAD v4
5g.112840854T>GCA16032835APCc.5314T>G (p.Ser1772Ala)
c.*5266T>G (n.*5266T>G)
c.5206T>G (p.Ser1736Ala)
c.5260T>G (p.Ser1754Ala)
c.*4582T>G (n.*4582T>G)
c.230+11882T>G
c.5290T>G (p.Ser1764Ala)
c.5185T>G (p.Ser1729Ala)
c.5176T>G (p.Ser1726Ala)
c.5137T>G (p.Ser1713Ala)
c.5083T>G (p.Ser1695Ala)
c.4987T>G (p.Ser1663Ala)
c.4957T>G (p.Ser1653Ala)
c.4882T>G (p.Ser1628Ala)
c.4780T>G (p.Ser1594Ala)
c.4411T>G (p.Ser1471Ala)
 dbSNP
5g.112840855C>ACA16032836APCc.5315C>A (p.Ser1772Tyr)
c.*5267C>A (n.*5267C>A)
c.5207C>A (p.Ser1736Tyr)
c.5261C>A (p.Ser1754Tyr)
c.*4583C>A (n.*4583C>A)
c.230+11883C>A
c.5291C>A (p.Ser1764Tyr)
c.5186C>A (p.Ser1729Tyr)
c.5177C>A (p.Ser1726Tyr)
c.5138C>A (p.Ser1713Tyr)
c.5084C>A (p.Ser1695Tyr)
c.4988C>A (p.Ser1663Tyr)
c.4958C>A (p.Ser1653Tyr)
c.4883C>A (p.Ser1628Tyr)
c.4781C>A (p.Ser1594Tyr)
c.4412C>A (p.Ser1471Tyr)
 dbSNP
5g.112840855C=CA1573475104APCc.5315C= (p.Ser1772=)
c.*5267C= (n.*5267C=)
c.5207C= (p.Ser1736=)
c.5261C= (p.Ser1754=)
c.*4583C= (n.*4583C=)
c.230+11883C=
c.5291C= (p.Ser1764=)
c.5186C= (p.Ser1729=)
c.5177C= (p.Ser1726=)
c.5138C= (p.Ser1713=)
c.5084C= (p.Ser1695=)
c.4988C= (p.Ser1663=)
c.4958C= (p.Ser1653=)
c.4883C= (p.Ser1628=)
c.4781C= (p.Ser1594=)
c.4412C= (p.Ser1471=)
5g.112840855C>GCA16032837APCc.5315C>G (p.Ser1772Cys)
c.*5267C>G (n.*5267C>G)
c.5207C>G (p.Ser1736Cys)
c.5261C>G (p.Ser1754Cys)
c.*4583C>G (n.*4583C>G)
c.230+11883C>G
c.5291C>G (p.Ser1764Cys)
c.5186C>G (p.Ser1729Cys)
c.5177C>G (p.Ser1726Cys)
c.5138C>G (p.Ser1713Cys)
c.5084C>G (p.Ser1695Cys)
c.4988C>G (p.Ser1663Cys)
c.4958C>G (p.Ser1653Cys)
c.4883C>G (p.Ser1628Cys)
c.4781C>G (p.Ser1594Cys)
c.4412C>G (p.Ser1471Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840855C>TCA16032838APCc.5315C>T (p.Ser1772Phe)
c.*5267C>T (n.*5267C>T)
c.5207C>T (p.Ser1736Phe)
c.5261C>T (p.Ser1754Phe)
c.*4583C>T (n.*4583C>T)
c.230+11883C>T
c.5291C>T (p.Ser1764Phe)
c.5186C>T (p.Ser1729Phe)
c.5177C>T (p.Ser1726Phe)
c.5138C>T (p.Ser1713Phe)
c.5084C>T (p.Ser1695Phe)
c.4988C>T (p.Ser1663Phe)
c.4958C>T (p.Ser1653Phe)
c.4883C>T (p.Ser1628Phe)
c.4781C>T (p.Ser1594Phe)
c.4412C>T (p.Ser1471Phe)
 dbSNP
5g.112840856T>ACA10578400APCc.5316T>A (p.Ser1772=)
c.*5268T>A (n.*5268T>A)
c.5208T>A (p.Ser1736=)
c.5262T>A (p.Ser1754=)
c.*4584T>A (n.*4584T>A)
c.230+11884T>A
c.5292T>A (p.Ser1764=)
c.5187T>A (p.Ser1729=)
c.5178T>A (p.Ser1726=)
c.5139T>A (p.Ser1713=)
c.5085T>A (p.Ser1695=)
c.4989T>A (p.Ser1663=)
c.4959T>A (p.Ser1653=)
c.4884T>A (p.Ser1628=)
c.4782T>A (p.Ser1594=)
c.4413T>A (p.Ser1471=)
 ClinVar dbSNP gnomAD v4
5g.112840856T>CCA446209669APCc.5316T>C (p.Ser1772=)
c.*5268T>C (n.*5268T>C)
c.5208T>C (p.Ser1736=)
c.5262T>C (p.Ser1754=)
c.*4584T>C (n.*4584T>C)
c.230+11884T>C
c.5292T>C (p.Ser1764=)
c.5187T>C (p.Ser1729=)
c.5178T>C (p.Ser1726=)
c.5139T>C (p.Ser1713=)
c.5085T>C (p.Ser1695=)
c.4989T>C (p.Ser1663=)
c.4959T>C (p.Ser1653=)
c.4884T>C (p.Ser1628=)
c.4782T>C (p.Ser1594=)
c.4413T>C (p.Ser1471=)
 dbSNP
5g.112840856T>GCA446209668APCc.5316T>G (p.Ser1772=)
c.*5268T>G (n.*5268T>G)
c.5208T>G (p.Ser1736=)
c.5262T>G (p.Ser1754=)
c.*4584T>G (n.*4584T>G)
c.230+11884T>G
c.5292T>G (p.Ser1764=)
c.5187T>G (p.Ser1729=)
c.5178T>G (p.Ser1726=)
c.5139T>G (p.Ser1713=)
c.5085T>G (p.Ser1695=)
c.4989T>G (p.Ser1663=)
c.4959T>G (p.Ser1653=)
c.4884T>G (p.Ser1628=)
c.4782T>G (p.Ser1594=)
c.4413T>G (p.Ser1471=)
5g.112840856T=CA1573475109APCc.5316T= (p.Ser1772=)
c.*5268T= (n.*5268T=)
c.5208T= (p.Ser1736=)
c.5262T= (p.Ser1754=)
c.*4584T= (n.*4584T=)
c.230+11884T=
c.5292T= (p.Ser1764=)
c.5187T= (p.Ser1729=)
c.5178T= (p.Ser1726=)
c.5139T= (p.Ser1713=)
c.5085T= (p.Ser1695=)
c.4989T= (p.Ser1663=)
c.4959T= (p.Ser1653=)
c.4884T= (p.Ser1628=)
c.4782T= (p.Ser1594=)
c.4413T= (p.Ser1471=)
5g.112840857G>ACA16032839APCc.5317G>A (p.Ala1773Thr)
c.*5269G>A (n.*5269G>A)
c.5209G>A (p.Ala1737Thr)
c.5263G>A (p.Ala1755Thr)
c.*4585G>A (n.*4585G>A)
c.230+11885G>A
c.5293G>A (p.Ala1765Thr)
c.5188G>A (p.Ala1730Thr)
c.5179G>A (p.Ala1727Thr)
c.5140G>A (p.Ala1714Thr)
c.5086G>A (p.Ala1696Thr)
c.4990G>A (p.Ala1664Thr)
c.4960G>A (p.Ala1654Thr)
c.4885G>A (p.Ala1629Thr)
c.4783G>A (p.Ala1595Thr)
c.4414G>A (p.Ala1472Thr)
 dbSNP
5g.112840857G>CCA16032840APCc.5317G>C (p.Ala1773Pro)
c.*5269G>C (n.*5269G>C)
c.5209G>C (p.Ala1737Pro)
c.5263G>C (p.Ala1755Pro)
c.*4585G>C (n.*4585G>C)
c.230+11885G>C
c.5293G>C (p.Ala1765Pro)
c.5188G>C (p.Ala1730Pro)
c.5179G>C (p.Ala1727Pro)
c.5140G>C (p.Ala1714Pro)
c.5086G>C (p.Ala1696Pro)
c.4990G>C (p.Ala1664Pro)
c.4960G>C (p.Ala1654Pro)
c.4885G>C (p.Ala1629Pro)
c.4783G>C (p.Ala1595Pro)
c.4414G>C (p.Ala1472Pro)
 dbSNP
5g.112840857G=CA1573475121APCc.5317G= (p.Ala1773=)
c.*5269G= (n.*5269G=)
c.5209G= (p.Ala1737=)
c.5263G= (p.Ala1755=)
c.*4585G= (n.*4585G=)
c.230+11885G=
c.5293G= (p.Ala1765=)
c.5188G= (p.Ala1730=)
c.5179G= (p.Ala1727=)
c.5140G= (p.Ala1714=)
c.5086G= (p.Ala1696=)
c.4990G= (p.Ala1664=)
c.4960G= (p.Ala1654=)
c.4885G= (p.Ala1629=)
c.4783G= (p.Ala1595=)
c.4414G= (p.Ala1472=)
5g.112840857G>TCA009984APCc.5317G>T (p.Ala1773Ser)
c.*5269G>T (n.*5269G>T)
c.5209G>T (p.Ala1737Ser)
c.5263G>T (p.Ala1755Ser)
c.*4585G>T (n.*4585G>T)
c.230+11885G>T
c.5293G>T (p.Ala1765Ser)
c.5188G>T (p.Ala1730Ser)
c.5179G>T (p.Ala1727Ser)
c.5140G>T (p.Ala1714Ser)
c.5086G>T (p.Ala1696Ser)
c.4990G>T (p.Ala1664Ser)
c.4960G>T (p.Ala1654Ser)
c.4885G>T (p.Ala1629Ser)
c.4783G>T (p.Ala1595Ser)
c.4414G>T (p.Ala1472Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840858C>ACA16032841APCc.5318C>A (p.Ala1773Glu)
c.*5270C>A (n.*5270C>A)
c.5210C>A (p.Ala1737Glu)
c.5264C>A (p.Ala1755Glu)
c.*4586C>A (n.*4586C>A)
c.230+11886C>A
c.5294C>A (p.Ala1765Glu)
c.5189C>A (p.Ala1730Glu)
c.5180C>A (p.Ala1727Glu)
c.5141C>A (p.Ala1714Glu)
c.5087C>A (p.Ala1696Glu)
c.4991C>A (p.Ala1664Glu)
c.4961C>A (p.Ala1654Glu)
c.4886C>A (p.Ala1629Glu)
c.4784C>A (p.Ala1595Glu)
c.4415C>A (p.Ala1472Glu)
 dbSNP
5g.112840858C=CA1573475129APCc.5318C= (p.Ala1773=)
c.*5270C= (n.*5270C=)
c.5210C= (p.Ala1737=)
c.5264C= (p.Ala1755=)
c.*4586C= (n.*4586C=)
c.230+11886C=
c.5294C= (p.Ala1765=)
c.5189C= (p.Ala1730=)
c.5180C= (p.Ala1727=)
c.5141C= (p.Ala1714=)
c.5087C= (p.Ala1696=)
c.4991C= (p.Ala1664=)
c.4961C= (p.Ala1654=)
c.4886C= (p.Ala1629=)
c.4784C= (p.Ala1595=)
c.4415C= (p.Ala1472=)
5g.112840858C>GCA16032842APCc.5318C>G (p.Ala1773Gly)
c.*5270C>G (n.*5270C>G)
c.5210C>G (p.Ala1737Gly)
c.5264C>G (p.Ala1755Gly)
c.*4586C>G (n.*4586C>G)
c.230+11886C>G
c.5294C>G (p.Ala1765Gly)
c.5189C>G (p.Ala1730Gly)
c.5180C>G (p.Ala1727Gly)
c.5141C>G (p.Ala1714Gly)
c.5087C>G (p.Ala1696Gly)
c.4991C>G (p.Ala1664Gly)
c.4961C>G (p.Ala1654Gly)
c.4886C>G (p.Ala1629Gly)
c.4784C>G (p.Ala1595Gly)
c.4415C>G (p.Ala1472Gly)
 dbSNP
5g.112840858C>TCA041104APCc.5318C>T (p.Ala1773Val)
c.*5270C>T (n.*5270C>T)
c.5210C>T (p.Ala1737Val)
c.5264C>T (p.Ala1755Val)
c.*4586C>T (n.*4586C>T)
c.230+11886C>T
c.5294C>T (p.Ala1765Val)
c.5189C>T (p.Ala1730Val)
c.5180C>T (p.Ala1727Val)
c.5141C>T (p.Ala1714Val)
c.5087C>T (p.Ala1696Val)
c.4991C>T (p.Ala1664Val)
c.4961C>T (p.Ala1654Val)
c.4886C>T (p.Ala1629Val)
c.4784C>T (p.Ala1595Val)
c.4415C>T (p.Ala1472Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840858dupCA1573475136APCc.5318dup (p.Ser1774ValfsTer13)
c.*5270dup (n.*5270dup)
c.5210dup (p.Ser1738ValfsTer13)
c.5264dup (p.Ser1756ValfsTer13)
c.*4586dup (n.*4586dup)
c.230+11886dup
c.5294dup (p.Ser1766ValfsTer13)
c.5189dup (p.Ser1731ValfsTer13)
c.5180dup (p.Ser1728ValfsTer13)
c.5141dup (p.Ser1715ValfsTer13)
c.5087dup (p.Ser1697ValfsTer13)
c.4991dup (p.Ser1665ValfsTer13)
c.4961dup (p.Ser1655ValfsTer13)
c.4886dup (p.Ser1630ValfsTer13)
c.4784dup (p.Ser1596ValfsTer13)
c.4415dup (p.Ser1473ValfsTer13)
 dbSNP
5g.112840859G>ACA009992APCc.5319G>A (p.Ala1773=)
c.*5271G>A (n.*5271G>A)
c.5211G>A (p.Ala1737=)
c.5265G>A (p.Ala1755=)
c.*4587G>A (n.*4587G>A)
c.230+11887G>A
c.5295G>A (p.Ala1765=)
c.5190G>A (p.Ala1730=)
c.5181G>A (p.Ala1727=)
c.5142G>A (p.Ala1714=)
c.5088G>A (p.Ala1696=)
c.4992G>A (p.Ala1664=)
c.4962G>A (p.Ala1654=)
c.4887G>A (p.Ala1629=)
c.4785G>A (p.Ala1595=)
c.4416G>A (p.Ala1472=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840859G>CCA446209671APCc.5319G>C (p.Ala1773=)
c.*5271G>C (n.*5271G>C)
c.5211G>C (p.Ala1737=)
c.5265G>C (p.Ala1755=)
c.*4587G>C (n.*4587G>C)
c.230+11887G>C
c.5295G>C (p.Ala1765=)
c.5190G>C (p.Ala1730=)
c.5181G>C (p.Ala1727=)
c.5142G>C (p.Ala1714=)
c.5088G>C (p.Ala1696=)
c.4992G>C (p.Ala1664=)
c.4962G>C (p.Ala1654=)
c.4887G>C (p.Ala1629=)
c.4785G>C (p.Ala1595=)
c.4416G>C (p.Ala1472=)
 dbSNP gnomAD v2 gnomAD v4
5g.112840859G=CA1573475149APCc.5319G= (p.Ala1773=)
c.*5271G= (n.*5271G=)
c.5211G= (p.Ala1737=)
c.5265G= (p.Ala1755=)
c.*4587G= (n.*4587G=)
c.230+11887G=
c.5295G= (p.Ala1765=)
c.5190G= (p.Ala1730=)
c.5181G= (p.Ala1727=)
c.5142G= (p.Ala1714=)
c.5088G= (p.Ala1696=)
c.4992G= (p.Ala1664=)
c.4962G= (p.Ala1654=)
c.4887G= (p.Ala1629=)
c.4785G= (p.Ala1595=)
c.4416G= (p.Ala1472=)
5g.112840859G>TCA446209672APCc.5319G>T (p.Ala1773=)
c.*5271G>T (n.*5271G>T)
c.5211G>T (p.Ala1737=)
c.5265G>T (p.Ala1755=)
c.*4587G>T (n.*4587G>T)
c.230+11887G>T
c.5295G>T (p.Ala1765=)
c.5190G>T (p.Ala1730=)
c.5181G>T (p.Ala1727=)
c.5142G>T (p.Ala1714=)
c.5088G>T (p.Ala1696=)
c.4992G>T (p.Ala1664=)
c.4962G>T (p.Ala1654=)
c.4887G>T (p.Ala1629=)
c.4785G>T (p.Ala1595=)
c.4416G>T (p.Ala1472=)
 ClinVar dbSNP gnomAD v4
5g.112840859_112840862delinsATCGCA658653651APCc.5319_5322delinsATCG (p.Ala1773=)
c.*5271_*5274delinsATCG (n.*5271_*5274delinsATCG)
c.5211_5214delinsATCG (p.Ala1737=)
c.5265_5268delinsATCG (p.Ala1755=)
c.*4587_*4590delinsATCG (n.*4587_*4590delinsATCG)
c.230+11887_230+11890delinsATCG
c.5295_5298delinsATCG (p.Ala1765=)
c.5190_5193delinsATCG (p.Ala1730=)
c.5181_5184delinsATCG (p.Ala1727=)
c.5142_5145delinsATCG (p.Ala1714=)
c.5088_5091delinsATCG (p.Ala1696=)
c.4992_4995delinsATCG (p.Ala1664=)
c.4962_4965delinsATCG (p.Ala1654=)
c.4887_4890delinsATCG (p.Ala1629=)
c.4785_4788delinsATCG (p.Ala1595=)
c.4416_4419delinsATCG (p.Ala1472=)
 ClinVar dbSNP
5g.112840859_112840862delinsGTCTCA1573475155APCc.5319_5322delinsGTCT (p.Ala1773=)
c.*5271_*5274delinsGTCT (n.*5271_*5274delinsGTCT)
c.5211_5214delinsGTCT (p.Ala1737=)
c.5265_5268delinsGTCT (p.Ala1755=)
c.*4587_*4590delinsGTCT (n.*4587_*4590delinsGTCT)
c.230+11887_230+11890delinsGTCT
c.5295_5298delinsGTCT (p.Ala1765=)
c.5190_5193delinsGTCT (p.Ala1730=)
c.5181_5184delinsGTCT (p.Ala1727=)
c.5142_5145delinsGTCT (p.Ala1714=)
c.5088_5091delinsGTCT (p.Ala1696=)
c.4992_4995delinsGTCT (p.Ala1664=)
c.4962_4965delinsGTCT (p.Ala1654=)
c.4887_4890delinsGTCT (p.Ala1629=)
c.4785_4788delinsGTCT (p.Ala1595=)
c.4416_4419delinsGTCT (p.Ala1472=)
5g.112840859_112840862delinsTGCGCA916079919APCc.5319_5322delinsTGCG (p.Ser1774Ala)
c.*5271_*5274delinsTGCG (n.*5271_*5274delinsTGCG)
c.5211_5214delinsTGCG (p.Ser1738Ala)
c.5265_5268delinsTGCG (p.Ser1756Ala)
c.*4587_*4590delinsTGCG (n.*4587_*4590delinsTGCG)
c.230+11887_230+11890delinsTGCG
c.5295_5298delinsTGCG (p.Ser1766Ala)
c.5190_5193delinsTGCG (p.Ser1731Ala)
c.5181_5184delinsTGCG (p.Ser1728Ala)
c.5142_5145delinsTGCG (p.Ser1715Ala)
c.5088_5091delinsTGCG (p.Ser1697Ala)
c.4992_4995delinsTGCG (p.Ser1665Ala)
c.4962_4965delinsTGCG (p.Ser1655Ala)
c.4887_4890delinsTGCG (p.Ser1630Ala)
c.4785_4788delinsTGCG (p.Ser1596Ala)
c.4416_4419delinsTGCG (p.Ser1473Ala)
 ClinVar dbSNP
5g.112840860T>ACA16032843APCc.5320T>A (p.Ser1774Thr)
c.*5272T>A (n.*5272T>A)
c.5212T>A (p.Ser1738Thr)
c.5266T>A (p.Ser1756Thr)
c.*4588T>A (n.*4588T>A)
c.230+11888T>A
c.5296T>A (p.Ser1766Thr)
c.5191T>A (p.Ser1731Thr)
c.5182T>A (p.Ser1728Thr)
c.5143T>A (p.Ser1715Thr)
c.5089T>A (p.Ser1697Thr)
c.4993T>A (p.Ser1665Thr)
c.4963T>A (p.Ser1655Thr)
c.4888T>A (p.Ser1630Thr)
c.4786T>A (p.Ser1596Thr)
c.4417T>A (p.Ser1473Thr)
5g.112840860T>CCA16032844APCc.5320T>C (p.Ser1774Pro)
c.*5272T>C (n.*5272T>C)
c.5212T>C (p.Ser1738Pro)
c.5266T>C (p.Ser1756Pro)
c.*4588T>C (n.*4588T>C)
c.230+11888T>C
c.5296T>C (p.Ser1766Pro)
c.5191T>C (p.Ser1731Pro)
c.5182T>C (p.Ser1728Pro)
c.5143T>C (p.Ser1715Pro)
c.5089T>C (p.Ser1697Pro)
c.4993T>C (p.Ser1665Pro)
c.4963T>C (p.Ser1655Pro)
c.4888T>C (p.Ser1630Pro)
c.4786T>C (p.Ser1596Pro)
c.4417T>C (p.Ser1473Pro)
 ClinVar dbSNP gnomAD v4
5g.112840860T>GCA16032845APCc.5320T>G (p.Ser1774Ala)
c.*5272T>G (n.*5272T>G)
c.5212T>G (p.Ser1738Ala)
c.5266T>G (p.Ser1756Ala)
c.*4588T>G (n.*4588T>G)
c.230+11888T>G
c.5296T>G (p.Ser1766Ala)
c.5191T>G (p.Ser1731Ala)
c.5182T>G (p.Ser1728Ala)
c.5143T>G (p.Ser1715Ala)
c.5089T>G (p.Ser1697Ala)
c.4993T>G (p.Ser1665Ala)
c.4963T>G (p.Ser1655Ala)
c.4888T>G (p.Ser1630Ala)
c.4786T>G (p.Ser1596Ala)
c.4417T>G (p.Ser1473Ala)
5g.112840860T=CA1573475174APCc.5320T= (p.Ser1774=)
c.*5272T= (n.*5272T=)
c.5212T= (p.Ser1738=)
c.5266T= (p.Ser1756=)
c.*4588T= (n.*4588T=)
c.230+11888T=
c.5296T= (p.Ser1766=)
c.5191T= (p.Ser1731=)
c.5182T= (p.Ser1728=)
c.5143T= (p.Ser1715=)
c.5089T= (p.Ser1697=)
c.4993T= (p.Ser1665=)
c.4963T= (p.Ser1655=)
c.4888T= (p.Ser1630=)
c.4786T= (p.Ser1596=)
c.4417T= (p.Ser1473=)
5g.112840866_112840868dupCA913188211APCc.5326_5328dup (p.Ser1776_Ala1777insSer)
c.*5278_*5280dup (n.*5278_*5280dup)
c.5218_5220dup (p.Ser1740_Ala1741insSer)
c.5272_5274dup (p.Ser1758_Ala1759insSer)
c.*4594_*4596dup (n.*4594_*4596dup)
c.230+11894_230+11896dup
c.5302_5304dup (p.Ser1768_Ala1769insSer)
c.5197_5199dup (p.Ser1733_Ala1734insSer)
c.5188_5190dup (p.Ser1730_Ala1731insSer)
c.5149_5151dup (p.Ser1717_Ala1718insSer)
c.5095_5097dup (p.Ser1699_Ala1700insSer)
c.4999_5001dup (p.Ser1667_Ala1668insSer)
c.4969_4971dup (p.Ser1657_Ala1658insSer)
c.4894_4896dup (p.Ser1632_Ala1633insSer)
c.4792_4794dup (p.Ser1598_Ala1599insSer)
c.4423_4425dup (p.Ser1475_Ala1476insSer)
 ClinVar dbSNP
5g.112840866_112840868delCA041117APCc.5326_5328del (p.Ser1776del)
c.*5278_*5280del (n.*5278_*5280del)
c.5218_5220del (p.Ser1740del)
c.5272_5274del (p.Ser1758del)
c.*4594_*4596del (n.*4594_*4596del)
c.230+11894_230+11896del
c.5302_5304del (p.Ser1768del)
c.5197_5199del (p.Ser1733del)
c.5188_5190del (p.Ser1730del)
c.5149_5151del (p.Ser1717del)
c.5095_5097del (p.Ser1699del)
c.4999_5001del (p.Ser1667del)
c.4969_4971del (p.Ser1657del)
c.4894_4896del (p.Ser1632del)
c.4792_4794del (p.Ser1598del)
c.4423_4425del (p.Ser1475del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840861C>ACA16032846APCc.5321C>A (p.Ser1774Tyr)
c.*5273C>A (n.*5273C>A)
c.5213C>A (p.Ser1738Tyr)
c.5267C>A (p.Ser1756Tyr)
c.*4589C>A (n.*4589C>A)
c.230+11889C>A
c.5297C>A (p.Ser1766Tyr)
c.5192C>A (p.Ser1731Tyr)
c.5183C>A (p.Ser1728Tyr)
c.5144C>A (p.Ser1715Tyr)
c.5090C>A (p.Ser1697Tyr)
c.4994C>A (p.Ser1665Tyr)
c.4964C>A (p.Ser1655Tyr)
c.4889C>A (p.Ser1630Tyr)
c.4787C>A (p.Ser1596Tyr)
c.4418C>A (p.Ser1473Tyr)
 gnomAD v4
5g.112840861C=CA1573475185APCc.5321C= (p.Ser1774=)
c.*5273C= (n.*5273C=)
c.5213C= (p.Ser1738=)
c.5267C= (p.Ser1756=)
c.*4589C= (n.*4589C=)
c.230+11889C=
c.5297C= (p.Ser1766=)
c.5192C= (p.Ser1731=)
c.5183C= (p.Ser1728=)
c.5144C= (p.Ser1715=)
c.5090C= (p.Ser1697=)
c.4994C= (p.Ser1665=)
c.4964C= (p.Ser1655=)
c.4889C= (p.Ser1630=)
c.4787C= (p.Ser1596=)
c.4418C= (p.Ser1473=)
5g.112840861C>GCA16032847APCc.5321C>G (p.Ser1774Cys)
c.*5273C>G (n.*5273C>G)
c.5213C>G (p.Ser1738Cys)
c.5267C>G (p.Ser1756Cys)
c.*4589C>G (n.*4589C>G)
c.230+11889C>G
c.5297C>G (p.Ser1766Cys)
c.5192C>G (p.Ser1731Cys)
c.5183C>G (p.Ser1728Cys)
c.5144C>G (p.Ser1715Cys)
c.5090C>G (p.Ser1697Cys)
c.4994C>G (p.Ser1665Cys)
c.4964C>G (p.Ser1655Cys)
c.4889C>G (p.Ser1630Cys)
c.4787C>G (p.Ser1596Cys)
c.4418C>G (p.Ser1473Cys)
 dbSNP
5g.112840861C>TCA041147APCc.5321C>T (p.Ser1774Phe)
c.*5273C>T (n.*5273C>T)
c.5213C>T (p.Ser1738Phe)
c.5267C>T (p.Ser1756Phe)
c.*4589C>T (n.*4589C>T)
c.230+11889C>T
c.5297C>T (p.Ser1766Phe)
c.5192C>T (p.Ser1731Phe)
c.5183C>T (p.Ser1728Phe)
c.5144C>T (p.Ser1715Phe)
c.5090C>T (p.Ser1697Phe)
c.4994C>T (p.Ser1665Phe)
c.4964C>T (p.Ser1655Phe)
c.4889C>T (p.Ser1630Phe)
c.4787C>T (p.Ser1596Phe)
c.4418C>T (p.Ser1473Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840861_112840862delinsTGCA2573138674APCc.5321_5322delinsTG (p.Ser1774Leu)
c.*5273_*5274delinsTG (n.*5273_*5274delinsTG)
c.5213_5214delinsTG (p.Ser1738Leu)
c.5267_5268delinsTG (p.Ser1756Leu)
c.*4589_*4590delinsTG (n.*4589_*4590delinsTG)
c.230+11889_230+11890delinsTG
c.5297_5298delinsTG (p.Ser1766Leu)
c.5192_5193delinsTG (p.Ser1731Leu)
c.5183_5184delinsTG (p.Ser1728Leu)
c.5144_5145delinsTG (p.Ser1715Leu)
c.5090_5091delinsTG (p.Ser1697Leu)
c.4994_4995delinsTG (p.Ser1665Leu)
c.4964_4965delinsTG (p.Ser1655Leu)
c.4889_4890delinsTG (p.Ser1630Leu)
c.4787_4788delinsTG (p.Ser1596Leu)
c.4418_4419delinsTG (p.Ser1473Leu)
 ClinVar dbSNP
5g.112840862T>ACA009999APCc.5322T>A (p.Ser1774=)
c.*5274T>A (n.*5274T>A)
c.5214T>A (p.Ser1738=)
c.5268T>A (p.Ser1756=)
c.*4590T>A (n.*4590T>A)
c.230+11890T>A
c.5298T>A (p.Ser1766=)
c.5193T>A (p.Ser1731=)
c.5184T>A (p.Ser1728=)
c.5145T>A (p.Ser1715=)
c.5091T>A (p.Ser1697=)
c.4995T>A (p.Ser1665=)
c.4965T>A (p.Ser1655=)
c.4890T>A (p.Ser1630=)
c.4788T>A (p.Ser1596=)
c.4419T>A (p.Ser1473=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112840862T>CCA446209673APCc.5322T>C (p.Ser1774=)
c.*5274T>C (n.*5274T>C)
c.5214T>C (p.Ser1738=)
c.5268T>C (p.Ser1756=)
c.*4590T>C (n.*4590T>C)
c.230+11890T>C
c.5298T>C (p.Ser1766=)
c.5193T>C (p.Ser1731=)
c.5184T>C (p.Ser1728=)
c.5145T>C (p.Ser1715=)
c.5091T>C (p.Ser1697=)
c.4995T>C (p.Ser1665=)
c.4965T>C (p.Ser1655=)
c.4890T>C (p.Ser1630=)
c.4788T>C (p.Ser1596=)
c.4419T>C (p.Ser1473=)
 gnomAD v4
5g.112840862T>GCA010004APCc.5322T>G (p.Ser1774=)
c.*5274T>G (n.*5274T>G)
c.5214T>G (p.Ser1738=)
c.5268T>G (p.Ser1756=)
c.*4590T>G (n.*4590T>G)
c.230+11890T>G
c.5298T>G (p.Ser1766=)
c.5193T>G (p.Ser1731=)
c.5184T>G (p.Ser1728=)
c.5145T>G (p.Ser1715=)
c.5091T>G (p.Ser1697=)
c.4995T>G (p.Ser1665=)
c.4965T>G (p.Ser1655=)
c.4890T>G (p.Ser1630=)
c.4788T>G (p.Ser1596=)
c.4419T>G (p.Ser1473=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840862T=CA1573475195APCc.5322T= (p.Ser1774=)
c.*5274T= (n.*5274T=)
c.5214T= (p.Ser1738=)
c.5268T= (p.Ser1756=)
c.*4590T= (n.*4590T=)
c.230+11890T=
c.5298T= (p.Ser1766=)
c.5193T= (p.Ser1731=)
c.5184T= (p.Ser1728=)
c.5145T= (p.Ser1715=)
c.5091T= (p.Ser1697=)
c.4995T= (p.Ser1665=)
c.4965T= (p.Ser1655=)
c.4890T= (p.Ser1630=)
c.4788T= (p.Ser1596=)
c.4419T= (p.Ser1473=)
5g.112840863T>ACA16032848APCc.5323T>A (p.Ser1775Thr)
c.*5275T>A (n.*5275T>A)
c.5215T>A (p.Ser1739Thr)
c.5269T>A (p.Ser1757Thr)
c.*4591T>A (n.*4591T>A)
c.230+11891T>A
c.5299T>A (p.Ser1767Thr)
c.5194T>A (p.Ser1732Thr)
c.5185T>A (p.Ser1729Thr)
c.5146T>A (p.Ser1716Thr)
c.5092T>A (p.Ser1698Thr)
c.4996T>A (p.Ser1666Thr)
c.4966T>A (p.Ser1656Thr)
c.4891T>A (p.Ser1631Thr)
c.4789T>A (p.Ser1597Thr)
c.4420T>A (p.Ser1474Thr)
 ClinVar
5g.112840863T>CCA16032849APCc.5323T>C (p.Ser1775Pro)
c.*5275T>C (n.*5275T>C)
c.5215T>C (p.Ser1739Pro)
c.5269T>C (p.Ser1757Pro)
c.*4591T>C (n.*4591T>C)
c.230+11891T>C
c.5299T>C (p.Ser1767Pro)
c.5194T>C (p.Ser1732Pro)
c.5185T>C (p.Ser1729Pro)
c.5146T>C (p.Ser1716Pro)
c.5092T>C (p.Ser1698Pro)
c.4996T>C (p.Ser1666Pro)
c.4966T>C (p.Ser1656Pro)
c.4891T>C (p.Ser1631Pro)
c.4789T>C (p.Ser1597Pro)
c.4420T>C (p.Ser1474Pro)
 ClinVar
5g.112840863T>GCA16032850APCc.5323T>G (p.Ser1775Ala)
c.*5275T>G (n.*5275T>G)
c.5215T>G (p.Ser1739Ala)
c.5269T>G (p.Ser1757Ala)
c.*4591T>G (n.*4591T>G)
c.230+11891T>G
c.5299T>G (p.Ser1767Ala)
c.5194T>G (p.Ser1732Ala)
c.5185T>G (p.Ser1729Ala)
c.5146T>G (p.Ser1716Ala)
c.5092T>G (p.Ser1698Ala)
c.4996T>G (p.Ser1666Ala)
c.4966T>G (p.Ser1656Ala)
c.4891T>G (p.Ser1631Ala)
c.4789T>G (p.Ser1597Ala)
c.4420T>G (p.Ser1474Ala)
5g.112840864C>ACA16032851APCc.5324C>A (p.Ser1775Tyr)
c.*5276C>A (n.*5276C>A)
c.5216C>A (p.Ser1739Tyr)
c.5270C>A (p.Ser1757Tyr)
c.*4592C>A (n.*4592C>A)
c.230+11892C>A
c.5300C>A (p.Ser1767Tyr)
c.5195C>A (p.Ser1732Tyr)
c.5186C>A (p.Ser1729Tyr)
c.5147C>A (p.Ser1716Tyr)
c.5093C>A (p.Ser1698Tyr)
c.4997C>A (p.Ser1666Tyr)
c.4967C>A (p.Ser1656Tyr)
c.4892C>A (p.Ser1631Tyr)
c.4790C>A (p.Ser1597Tyr)
c.4421C>A (p.Ser1474Tyr)
 ClinVar
5g.112840864C=CA1573475204APCc.5324C= (p.Ser1775=)
c.*5276C= (n.*5276C=)
c.5216C= (p.Ser1739=)
c.5270C= (p.Ser1757=)
c.*4592C= (n.*4592C=)
c.230+11892C=
c.5300C= (p.Ser1767=)
c.5195C= (p.Ser1732=)
c.5186C= (p.Ser1729=)
c.5147C= (p.Ser1716=)
c.5093C= (p.Ser1698=)
c.4997C= (p.Ser1666=)
c.4967C= (p.Ser1656=)
c.4892C= (p.Ser1631=)
c.4790C= (p.Ser1597=)
c.4421C= (p.Ser1474=)
5g.112840864C>GCA16032852APCc.5324C>G (p.Ser1775Cys)
c.*5276C>G (n.*5276C>G)
c.5216C>G (p.Ser1739Cys)
c.5270C>G (p.Ser1757Cys)
c.*4592C>G (n.*4592C>G)
c.230+11892C>G
c.5300C>G (p.Ser1767Cys)
c.5195C>G (p.Ser1732Cys)
c.5186C>G (p.Ser1729Cys)
c.5147C>G (p.Ser1716Cys)
c.5093C>G (p.Ser1698Cys)
c.4997C>G (p.Ser1666Cys)
c.4967C>G (p.Ser1656Cys)
c.4892C>G (p.Ser1631Cys)
c.4790C>G (p.Ser1597Cys)
c.4421C>G (p.Ser1474Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840864C>TCA16032853APCc.5324C>T (p.Ser1775Phe)
c.*5276C>T (n.*5276C>T)
c.5216C>T (p.Ser1739Phe)
c.5270C>T (p.Ser1757Phe)
c.*4592C>T (n.*4592C>T)
c.230+11892C>T
c.5300C>T (p.Ser1767Phe)
c.5195C>T (p.Ser1732Phe)
c.5186C>T (p.Ser1729Phe)
c.5147C>T (p.Ser1716Phe)
c.5093C>T (p.Ser1698Phe)
c.4997C>T (p.Ser1666Phe)
c.4967C>T (p.Ser1656Phe)
c.4892C>T (p.Ser1631Phe)
c.4790C>T (p.Ser1597Phe)
c.4421C>T (p.Ser1474Phe)
 ClinVar dbSNP
5g.112840865T>ACA446209674APCc.5325T>A (p.Ser1775=)
c.*5277T>A (n.*5277T>A)
c.5217T>A (p.Ser1739=)
c.5271T>A (p.Ser1757=)
c.*4593T>A (n.*4593T>A)
c.230+11893T>A
c.5301T>A (p.Ser1767=)
c.5196T>A (p.Ser1732=)
c.5187T>A (p.Ser1729=)
c.5148T>A (p.Ser1716=)
c.5094T>A (p.Ser1698=)
c.4998T>A (p.Ser1666=)
c.4968T>A (p.Ser1656=)
c.4893T>A (p.Ser1631=)
c.4791T>A (p.Ser1597=)
c.4422T>A (p.Ser1474=)
 dbSNP gnomAD v4
5g.112840865T>CCA010011APCc.5325T>C (p.Ser1775=)
c.*5277T>C (n.*5277T>C)
c.5217T>C (p.Ser1739=)
c.5271T>C (p.Ser1757=)
c.*4593T>C (n.*4593T>C)
c.230+11893T>C
c.5301T>C (p.Ser1767=)
c.5196T>C (p.Ser1732=)
c.5187T>C (p.Ser1729=)
c.5148T>C (p.Ser1716=)
c.5094T>C (p.Ser1698=)
c.4998T>C (p.Ser1666=)
c.4968T>C (p.Ser1656=)
c.4893T>C (p.Ser1631=)
c.4791T>C (p.Ser1597=)
c.4422T>C (p.Ser1474=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840865T>GCA041212APCc.5325T>G (p.Ser1775=)
c.*5277T>G (n.*5277T>G)
c.5217T>G (p.Ser1739=)
c.5271T>G (p.Ser1757=)
c.*4593T>G (n.*4593T>G)
c.230+11893T>G
c.5301T>G (p.Ser1767=)
c.5196T>G (p.Ser1732=)
c.5187T>G (p.Ser1729=)
c.5148T>G (p.Ser1716=)
c.5094T>G (p.Ser1698=)
c.4998T>G (p.Ser1666=)
c.4968T>G (p.Ser1656=)
c.4893T>G (p.Ser1631=)
c.4791T>G (p.Ser1597=)
c.4422T>G (p.Ser1474=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840865T=CA1573475208APCc.5325T= (p.Ser1775=)
c.*5277T= (n.*5277T=)
c.5217T= (p.Ser1739=)
c.5271T= (p.Ser1757=)
c.*4593T= (n.*4593T=)
c.230+11893T=
c.5301T= (p.Ser1767=)
c.5196T= (p.Ser1732=)
c.5187T= (p.Ser1729=)
c.5148T= (p.Ser1716=)
c.5094T= (p.Ser1698=)
c.4998T= (p.Ser1666=)
c.4968T= (p.Ser1656=)
c.4893T= (p.Ser1631=)
c.4791T= (p.Ser1597=)
c.4422T= (p.Ser1474=)
5g.112840866T>ACA16032854APCc.5326T>A (p.Ser1776Thr)
c.*5278T>A (n.*5278T>A)
c.5218T>A (p.Ser1740Thr)
c.5272T>A (p.Ser1758Thr)
c.*4594T>A (n.*4594T>A)
c.230+11894T>A
c.5302T>A (p.Ser1768Thr)
c.5197T>A (p.Ser1733Thr)
c.5188T>A (p.Ser1730Thr)
c.5149T>A (p.Ser1717Thr)
c.5095T>A (p.Ser1699Thr)
c.4999T>A (p.Ser1667Thr)
c.4969T>A (p.Ser1657Thr)
c.4894T>A (p.Ser1632Thr)
c.4792T>A (p.Ser1598Thr)
c.4423T>A (p.Ser1475Thr)
 dbSNP
5g.112840866T>CCA16032855APCc.5326T>C (p.Ser1776Pro)
c.*5278T>C (n.*5278T>C)
c.5218T>C (p.Ser1740Pro)
c.5272T>C (p.Ser1758Pro)
c.*4594T>C (n.*4594T>C)
c.230+11894T>C
c.5302T>C (p.Ser1768Pro)
c.5197T>C (p.Ser1733Pro)
c.5188T>C (p.Ser1730Pro)
c.5149T>C (p.Ser1717Pro)
c.5095T>C (p.Ser1699Pro)
c.4999T>C (p.Ser1667Pro)
c.4969T>C (p.Ser1657Pro)
c.4894T>C (p.Ser1632Pro)
c.4792T>C (p.Ser1598Pro)
c.4423T>C (p.Ser1475Pro)
 ClinVar dbSNP gnomAD v4
5g.112840866T>GCA16032856APCc.5326T>G (p.Ser1776Ala)
c.*5278T>G (n.*5278T>G)
c.5218T>G (p.Ser1740Ala)
c.5272T>G (p.Ser1758Ala)
c.*4594T>G (n.*4594T>G)
c.230+11894T>G
c.5302T>G (p.Ser1768Ala)
c.5197T>G (p.Ser1733Ala)
c.5188T>G (p.Ser1730Ala)
c.5149T>G (p.Ser1717Ala)
c.5095T>G (p.Ser1699Ala)
c.4999T>G (p.Ser1667Ala)
c.4969T>G (p.Ser1657Ala)
c.4894T>G (p.Ser1632Ala)
c.4792T>G (p.Ser1598Ala)
c.4423T>G (p.Ser1475Ala)
5g.112840866T=CA1573475219APCc.5326T= (p.Ser1776=)
c.*5278T= (n.*5278T=)
c.5218T= (p.Ser1740=)
c.5272T= (p.Ser1758=)
c.*4594T= (n.*4594T=)
c.230+11894T=
c.5302T= (p.Ser1768=)
c.5197T= (p.Ser1733=)
c.5188T= (p.Ser1730=)
c.5149T= (p.Ser1717=)
c.5095T= (p.Ser1699=)
c.4999T= (p.Ser1667=)
c.4969T= (p.Ser1657=)
c.4894T= (p.Ser1632=)
c.4792T= (p.Ser1598=)
c.4423T= (p.Ser1475=)
5g.112840867C>ACA16032857APCc.5327C>A (p.Ser1776Tyr)
c.*5279C>A (n.*5279C>A)
c.5219C>A (p.Ser1740Tyr)
c.5273C>A (p.Ser1758Tyr)
c.*4595C>A (n.*4595C>A)
c.230+11895C>A
c.5303C>A (p.Ser1768Tyr)
c.5198C>A (p.Ser1733Tyr)
c.5189C>A (p.Ser1730Tyr)
c.5150C>A (p.Ser1717Tyr)
c.5096C>A (p.Ser1699Tyr)
c.5000C>A (p.Ser1667Tyr)
c.4970C>A (p.Ser1657Tyr)
c.4895C>A (p.Ser1632Tyr)
c.4793C>A (p.Ser1598Tyr)
c.4424C>A (p.Ser1475Tyr)
 dbSNP gnomAD v4
5g.112840867C>GCA16032858APCc.5327C>G (p.Ser1776Cys)
c.*5279C>G (n.*5279C>G)
c.5219C>G (p.Ser1740Cys)
c.5273C>G (p.Ser1758Cys)
c.*4595C>G (n.*4595C>G)
c.230+11895C>G
c.5303C>G (p.Ser1768Cys)
c.5198C>G (p.Ser1733Cys)
c.5189C>G (p.Ser1730Cys)
c.5150C>G (p.Ser1717Cys)
c.5096C>G (p.Ser1699Cys)
c.5000C>G (p.Ser1667Cys)
c.4970C>G (p.Ser1657Cys)
c.4895C>G (p.Ser1632Cys)
c.4793C>G (p.Ser1598Cys)
c.4424C>G (p.Ser1475Cys)
 dbSNP
5g.112840867C>TCA16032859APCc.5327C>T (p.Ser1776Phe)
c.*5279C>T (n.*5279C>T)
c.5219C>T (p.Ser1740Phe)
c.5273C>T (p.Ser1758Phe)
c.*4595C>T (n.*4595C>T)
c.230+11895C>T
c.5303C>T (p.Ser1768Phe)
c.5198C>T (p.Ser1733Phe)
c.5189C>T (p.Ser1730Phe)
c.5150C>T (p.Ser1717Phe)
c.5096C>T (p.Ser1699Phe)
c.5000C>T (p.Ser1667Phe)
c.4970C>T (p.Ser1657Phe)
c.4895C>T (p.Ser1632Phe)
c.4793C>T (p.Ser1598Phe)
c.4424C>T (p.Ser1475Phe)
 ClinVar dbSNP COSMIC
5g.112840868T>ACA010018APCc.5328T>A (p.Ser1776=)
c.*5280T>A (n.*5280T>A)
c.5220T>A (p.Ser1740=)
c.5274T>A (p.Ser1758=)
c.*4596T>A (n.*4596T>A)
c.230+11896T>A
c.5304T>A (p.Ser1768=)
c.5199T>A (p.Ser1733=)
c.5190T>A (p.Ser1730=)
c.5151T>A (p.Ser1717=)
c.5097T>A (p.Ser1699=)
c.5001T>A (p.Ser1667=)
c.4971T>A (p.Ser1657=)
c.4896T>A (p.Ser1632=)
c.4794T>A (p.Ser1598=)
c.4425T>A (p.Ser1475=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840868T>CCA446209676APCc.5328T>C (p.Ser1776=)
c.*5280T>C (n.*5280T>C)
c.5220T>C (p.Ser1740=)
c.5274T>C (p.Ser1758=)
c.*4596T>C (n.*4596T>C)
c.230+11896T>C
c.5304T>C (p.Ser1768=)
c.5199T>C (p.Ser1733=)
c.5190T>C (p.Ser1730=)
c.5151T>C (p.Ser1717=)
c.5097T>C (p.Ser1699=)
c.5001T>C (p.Ser1667=)
c.4971T>C (p.Ser1657=)
c.4896T>C (p.Ser1632=)
c.4794T>C (p.Ser1598=)
c.4425T>C (p.Ser1475=)
 ClinVar dbSNP
5g.112840868T>GCA446209675APCc.5328T>G (p.Ser1776=)
c.*5280T>G (n.*5280T>G)
c.5220T>G (p.Ser1740=)
c.5274T>G (p.Ser1758=)
c.*4596T>G (n.*4596T>G)
c.230+11896T>G
c.5304T>G (p.Ser1768=)
c.5199T>G (p.Ser1733=)
c.5190T>G (p.Ser1730=)
c.5151T>G (p.Ser1717=)
c.5097T>G (p.Ser1699=)
c.5001T>G (p.Ser1667=)
c.4971T>G (p.Ser1657=)
c.4896T>G (p.Ser1632=)
c.4794T>G (p.Ser1598=)
c.4425T>G (p.Ser1475=)
5g.112840868T=CA1573475226APCc.5328T= (p.Ser1776=)
c.*5280T= (n.*5280T=)
c.5220T= (p.Ser1740=)
c.5274T= (p.Ser1758=)
c.*4596T= (n.*4596T=)
c.230+11896T=
c.5304T= (p.Ser1768=)
c.5199T= (p.Ser1733=)
c.5190T= (p.Ser1730=)
c.5151T= (p.Ser1717=)
c.5097T= (p.Ser1699=)
c.5001T= (p.Ser1667=)
c.4971T= (p.Ser1657=)
c.4896T= (p.Ser1632=)
c.4794T= (p.Ser1598=)
c.4425T= (p.Ser1475=)
5g.112840869G>ACA16032860APCc.5329G>A (p.Ala1777Thr)
c.*5281G>A (n.*5281G>A)
c.5221G>A (p.Ala1741Thr)
c.5275G>A (p.Ala1759Thr)
c.*4597G>A (n.*4597G>A)
c.230+11897G>A
c.5305G>A (p.Ala1769Thr)
c.5200G>A (p.Ala1734Thr)
c.5191G>A (p.Ala1731Thr)
c.5152G>A (p.Ala1718Thr)
c.5098G>A (p.Ala1700Thr)
c.5002G>A (p.Ala1668Thr)
c.4972G>A (p.Ala1658Thr)
c.4897G>A (p.Ala1633Thr)
c.4795G>A (p.Ala1599Thr)
c.4426G>A (p.Ala1476Thr)
 dbSNP
5g.112840869G>CCA16032861APCc.5329G>C (p.Ala1777Pro)
c.*5281G>C (n.*5281G>C)
c.5221G>C (p.Ala1741Pro)
c.5275G>C (p.Ala1759Pro)
c.*4597G>C (n.*4597G>C)
c.230+11897G>C
c.5305G>C (p.Ala1769Pro)
c.5200G>C (p.Ala1734Pro)
c.5191G>C (p.Ala1731Pro)
c.5152G>C (p.Ala1718Pro)
c.5098G>C (p.Ala1700Pro)
c.5002G>C (p.Ala1668Pro)
c.4972G>C (p.Ala1658Pro)
c.4897G>C (p.Ala1633Pro)
c.4795G>C (p.Ala1599Pro)
c.4426G>C (p.Ala1476Pro)
 dbSNP
5g.112840869G>TCA16032862APCc.5329G>T (p.Ala1777Ser)
c.*5281G>T (n.*5281G>T)
c.5221G>T (p.Ala1741Ser)
c.5275G>T (p.Ala1759Ser)
c.*4597G>T (n.*4597G>T)
c.230+11897G>T
c.5305G>T (p.Ala1769Ser)
c.5200G>T (p.Ala1734Ser)
c.5191G>T (p.Ala1731Ser)
c.5152G>T (p.Ala1718Ser)
c.5098G>T (p.Ala1700Ser)
c.5002G>T (p.Ala1668Ser)
c.4972G>T (p.Ala1658Ser)
c.4897G>T (p.Ala1633Ser)
c.4795G>T (p.Ala1599Ser)
c.4426G>T (p.Ala1476Ser)
 dbSNP
5g.112840870C>ACA16032863APCc.5330C>A (p.Ala1777Glu)
c.*5282C>A (n.*5282C>A)
c.5222C>A (p.Ala1741Glu)
c.5276C>A (p.Ala1759Glu)
c.*4598C>A (n.*4598C>A)
c.230+11898C>A
c.5306C>A (p.Ala1769Glu)
c.5201C>A (p.Ala1734Glu)
c.5192C>A (p.Ala1731Glu)
c.5153C>A (p.Ala1718Glu)
c.5099C>A (p.Ala1700Glu)
c.5003C>A (p.Ala1668Glu)
c.4973C>A (p.Ala1658Glu)
c.4898C>A (p.Ala1633Glu)
c.4796C>A (p.Ala1599Glu)
c.4427C>A (p.Ala1476Glu)
 dbSNP
5g.112840870C=CA1573475232APCc.5330C= (p.Ala1777=)
c.*5282C= (n.*5282C=)
c.5222C= (p.Ala1741=)
c.5276C= (p.Ala1759=)
c.*4598C= (n.*4598C=)
c.230+11898C=
c.5306C= (p.Ala1769=)
c.5201C= (p.Ala1734=)
c.5192C= (p.Ala1731=)
c.5153C= (p.Ala1718=)
c.5099C= (p.Ala1700=)
c.5003C= (p.Ala1668=)
c.4973C= (p.Ala1658=)
c.4898C= (p.Ala1633=)
c.4796C= (p.Ala1599=)
c.4427C= (p.Ala1476=)
5g.112840870C>GCA16032864APCc.5330C>G (p.Ala1777Gly)
c.*5282C>G (n.*5282C>G)
c.5222C>G (p.Ala1741Gly)
c.5276C>G (p.Ala1759Gly)
c.*4598C>G (n.*4598C>G)
c.230+11898C>G
c.5306C>G (p.Ala1769Gly)
c.5201C>G (p.Ala1734Gly)
c.5192C>G (p.Ala1731Gly)
c.5153C>G (p.Ala1718Gly)
c.5099C>G (p.Ala1700Gly)
c.5003C>G (p.Ala1668Gly)
c.4973C>G (p.Ala1658Gly)
c.4898C>G (p.Ala1633Gly)
c.4796C>G (p.Ala1599Gly)
c.4427C>G (p.Ala1476Gly)
 dbSNP
5g.112840870C>TCA16032865APCc.5330C>T (p.Ala1777Val)
c.*5282C>T (n.*5282C>T)
c.5222C>T (p.Ala1741Val)
c.5276C>T (p.Ala1759Val)
c.*4598C>T (n.*4598C>T)
c.230+11898C>T
c.5306C>T (p.Ala1769Val)
c.5201C>T (p.Ala1734Val)
c.5192C>T (p.Ala1731Val)
c.5153C>T (p.Ala1718Val)
c.5099C>T (p.Ala1700Val)
c.5003C>T (p.Ala1668Val)
c.4973C>T (p.Ala1658Val)
c.4898C>T (p.Ala1633Val)
c.4796C>T (p.Ala1599Val)
c.4427C>T (p.Ala1476Val)
 ClinVar dbSNP gnomAD v4
5g.112840871A>CCA446209677APCc.5331A>C (p.Ala1777=)
c.*5283A>C (n.*5283A>C)
c.5223A>C (p.Ala1741=)
c.5277A>C (p.Ala1759=)
c.*4599A>C (n.*4599A>C)
c.230+11899A>C
c.5307A>C (p.Ala1769=)
c.5202A>C (p.Ala1734=)
c.5193A>C (p.Ala1731=)
c.5154A>C (p.Ala1718=)
c.5100A>C (p.Ala1700=)
c.5004A>C (p.Ala1668=)
c.4974A>C (p.Ala1658=)
c.4899A>C (p.Ala1633=)
c.4797A>C (p.Ala1599=)
c.4428A>C (p.Ala1476=)
 COSMIC
5g.112840871A>GCA446209679APCc.5331A>G (p.Ala1777=)
c.*5283A>G (n.*5283A>G)
c.5223A>G (p.Ala1741=)
c.5277A>G (p.Ala1759=)
c.*4599A>G (n.*4599A>G)
c.230+11899A>G
c.5307A>G (p.Ala1769=)
c.5202A>G (p.Ala1734=)
c.5193A>G (p.Ala1731=)
c.5154A>G (p.Ala1718=)
c.5100A>G (p.Ala1700=)
c.5004A>G (p.Ala1668=)
c.4974A>G (p.Ala1658=)
c.4899A>G (p.Ala1633=)
c.4797A>G (p.Ala1599=)
c.4428A>G (p.Ala1476=)
 ClinVar gnomAD v4
5g.112840871A>TCA446209678APCc.5331A>T (p.Ala1777=)
c.*5283A>T (n.*5283A>T)
c.5223A>T (p.Ala1741=)
c.5277A>T (p.Ala1759=)
c.*4599A>T (n.*4599A>T)
c.230+11899A>T
c.5307A>T (p.Ala1769=)
c.5202A>T (p.Ala1734=)
c.5193A>T (p.Ala1731=)
c.5154A>T (p.Ala1718=)
c.5100A>T (p.Ala1700=)
c.5004A>T (p.Ala1668=)
c.4974A>T (p.Ala1658=)
c.4899A>T (p.Ala1633=)
c.4797A>T (p.Ala1599=)
c.4428A>T (p.Ala1476=)
5g.112840872C>ACA16032866APCc.5332C>A (p.Pro1778Thr)
c.*5284C>A (n.*5284C>A)
c.5224C>A (p.Pro1742Thr)
c.5278C>A (p.Pro1760Thr)
c.*4600C>A (n.*4600C>A)
c.230+11900C>A
c.5308C>A (p.Pro1770Thr)
c.5203C>A (p.Pro1735Thr)
c.5194C>A (p.Pro1732Thr)
c.5155C>A (p.Pro1719Thr)
c.5101C>A (p.Pro1701Thr)
c.5005C>A (p.Pro1669Thr)
c.4975C>A (p.Pro1659Thr)
c.4900C>A (p.Pro1634Thr)
c.4798C>A (p.Pro1600Thr)
c.4429C>A (p.Pro1477Thr)
 dbSNP
5g.112840872C=CA1573475234APCc.5332C= (p.Pro1778=)
c.*5284C= (n.*5284C=)
c.5224C= (p.Pro1742=)
c.5278C= (p.Pro1760=)
c.*4600C= (n.*4600C=)
c.230+11900C=
c.5308C= (p.Pro1770=)
c.5203C= (p.Pro1735=)
c.5194C= (p.Pro1732=)
c.5155C= (p.Pro1719=)
c.5101C= (p.Pro1701=)
c.5005C= (p.Pro1669=)
c.4975C= (p.Pro1659=)
c.4900C= (p.Pro1634=)
c.4798C= (p.Pro1600=)
c.4429C= (p.Pro1477=)
5g.112840872C>GCA16032867APCc.5332C>G (p.Pro1778Ala)
c.*5284C>G (n.*5284C>G)
c.5224C>G (p.Pro1742Ala)
c.5278C>G (p.Pro1760Ala)
c.*4600C>G (n.*4600C>G)
c.230+11900C>G
c.5308C>G (p.Pro1770Ala)
c.5203C>G (p.Pro1735Ala)
c.5194C>G (p.Pro1732Ala)
c.5155C>G (p.Pro1719Ala)
c.5101C>G (p.Pro1701Ala)
c.5005C>G (p.Pro1669Ala)
c.4975C>G (p.Pro1659Ala)
c.4900C>G (p.Pro1634Ala)
c.4798C>G (p.Pro1600Ala)
c.4429C>G (p.Pro1477Ala)
 ClinVar dbSNP
5g.112840872C>TCA16032868APCc.5332C>T (p.Pro1778Ser)
c.*5284C>T (n.*5284C>T)
c.5224C>T (p.Pro1742Ser)
c.5278C>T (p.Pro1760Ser)
c.*4600C>T (n.*4600C>T)
c.230+11900C>T
c.5308C>T (p.Pro1770Ser)
c.5203C>T (p.Pro1735Ser)
c.5194C>T (p.Pro1732Ser)
c.5155C>T (p.Pro1719Ser)
c.5101C>T (p.Pro1701Ser)
c.5005C>T (p.Pro1669Ser)
c.4975C>T (p.Pro1659Ser)
c.4900C>T (p.Pro1634Ser)
c.4798C>T (p.Pro1600Ser)
c.4429C>T (p.Pro1477Ser)
 ClinVar dbSNP gnomAD v4
5g.112840873C>ACA16032869APCc.5333C>A (p.Pro1778His)
c.*5285C>A (n.*5285C>A)
c.5225C>A (p.Pro1742His)
c.5279C>A (p.Pro1760His)
c.*4601C>A (n.*4601C>A)
c.230+11901C>A
c.5309C>A (p.Pro1770His)
c.5204C>A (p.Pro1735His)
c.5195C>A (p.Pro1732His)
c.5156C>A (p.Pro1719His)
c.5102C>A (p.Pro1701His)
c.5006C>A (p.Pro1669His)
c.4976C>A (p.Pro1659His)
c.4901C>A (p.Pro1634His)
c.4799C>A (p.Pro1600His)
c.4430C>A (p.Pro1477His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840873C=CA1573475239APCc.5333C= (p.Pro1778=)
c.*5285C= (n.*5285C=)
c.5225C= (p.Pro1742=)
c.5279C= (p.Pro1760=)
c.*4601C= (n.*4601C=)
c.230+11901C=
c.5309C= (p.Pro1770=)
c.5204C= (p.Pro1735=)
c.5195C= (p.Pro1732=)
c.5156C= (p.Pro1719=)
c.5102C= (p.Pro1701=)
c.5006C= (p.Pro1669=)
c.4976C= (p.Pro1659=)
c.4901C= (p.Pro1634=)
c.4799C= (p.Pro1600=)
c.4430C= (p.Pro1477=)
5g.112840873C>GCA16032870APCc.5333C>G (p.Pro1778Arg)
c.*5285C>G (n.*5285C>G)
c.5225C>G (p.Pro1742Arg)
c.5279C>G (p.Pro1760Arg)
c.*4601C>G (n.*4601C>G)
c.230+11901C>G
c.5309C>G (p.Pro1770Arg)
c.5204C>G (p.Pro1735Arg)
c.5195C>G (p.Pro1732Arg)
c.5156C>G (p.Pro1719Arg)
c.5102C>G (p.Pro1701Arg)
c.5006C>G (p.Pro1669Arg)
c.4976C>G (p.Pro1659Arg)
c.4901C>G (p.Pro1634Arg)
c.4799C>G (p.Pro1600Arg)
c.4430C>G (p.Pro1477Arg)
 dbSNP COSMIC
5g.112840873C>TCA16032871APCc.5333C>T (p.Pro1778Leu)
c.*5285C>T (n.*5285C>T)
c.5225C>T (p.Pro1742Leu)
c.5279C>T (p.Pro1760Leu)
c.*4601C>T (n.*4601C>T)
c.230+11901C>T
c.5309C>T (p.Pro1770Leu)
c.5204C>T (p.Pro1735Leu)
c.5195C>T (p.Pro1732Leu)
c.5156C>T (p.Pro1719Leu)
c.5102C>T (p.Pro1701Leu)
c.5006C>T (p.Pro1669Leu)
c.4976C>T (p.Pro1659Leu)
c.4901C>T (p.Pro1634Leu)
c.4799C>T (p.Pro1600Leu)
c.4430C>T (p.Pro1477Leu)
 dbSNP
5g.112840874C>ACA446209680APCc.5334C>A (p.Pro1778=)
c.*5286C>A (n.*5286C>A)
c.5226C>A (p.Pro1742=)
c.5280C>A (p.Pro1760=)
c.*4602C>A (n.*4602C>A)
c.230+11902C>A
c.5310C>A (p.Pro1770=)
c.5205C>A (p.Pro1735=)
c.5196C>A (p.Pro1732=)
c.5157C>A (p.Pro1719=)
c.5103C>A (p.Pro1701=)
c.5007C>A (p.Pro1669=)
c.4977C>A (p.Pro1659=)
c.4902C>A (p.Pro1634=)
c.4800C>A (p.Pro1600=)
c.4431C>A (p.Pro1477=)
 ClinVar dbSNP
5g.112840874C=CA1573475250APCc.5334C= (p.Pro1778=)
c.*5286C= (n.*5286C=)
c.5226C= (p.Pro1742=)
c.5280C= (p.Pro1760=)
c.*4602C= (n.*4602C=)
c.230+11902C=
c.5310C= (p.Pro1770=)
c.5205C= (p.Pro1735=)
c.5196C= (p.Pro1732=)
c.5157C= (p.Pro1719=)
c.5103C= (p.Pro1701=)
c.5007C= (p.Pro1669=)
c.4977C= (p.Pro1659=)
c.4902C= (p.Pro1634=)
c.4800C= (p.Pro1600=)
c.4431C= (p.Pro1477=)
5g.112840874C>GCA446209681APCc.5334C>G (p.Pro1778=)
c.*5286C>G (n.*5286C>G)
c.5226C>G (p.Pro1742=)
c.5280C>G (p.Pro1760=)
c.*4602C>G (n.*4602C>G)
c.230+11902C>G
c.5310C>G (p.Pro1770=)
c.5205C>G (p.Pro1735=)
c.5196C>G (p.Pro1732=)
c.5157C>G (p.Pro1719=)
c.5103C>G (p.Pro1701=)
c.5007C>G (p.Pro1669=)
c.4977C>G (p.Pro1659=)
c.4902C>G (p.Pro1634=)
c.4800C>G (p.Pro1600=)
c.4431C>G (p.Pro1477=)
 dbSNP
5g.112840874C>TCA446209682APCc.5334C>T (p.Pro1778=)
c.*5286C>T (n.*5286C>T)
c.5226C>T (p.Pro1742=)
c.5280C>T (p.Pro1760=)
c.*4602C>T (n.*4602C>T)
c.230+11902C>T
c.5310C>T (p.Pro1770=)
c.5205C>T (p.Pro1735=)
c.5196C>T (p.Pro1732=)
c.5157C>T (p.Pro1719=)
c.5103C>T (p.Pro1701=)
c.5007C>T (p.Pro1669=)
c.4977C>T (p.Pro1659=)
c.4902C>T (p.Pro1634=)
c.4800C>T (p.Pro1600=)
c.4431C>T (p.Pro1477=)
 dbSNP
5g.112840875A>CCA16032872APCc.5335A>C (p.Asn1779His)
c.*5287A>C (n.*5287A>C)
c.5227A>C (p.Asn1743His)
c.5281A>C (p.Asn1761His)
c.*4603A>C (n.*4603A>C)
c.230+11903A>C
c.5311A>C (p.Asn1771His)
c.5206A>C (p.Asn1736His)
c.5197A>C (p.Asn1733His)
c.5158A>C (p.Asn1720His)
c.5104A>C (p.Asn1702His)
c.5008A>C (p.Asn1670His)
c.4978A>C (p.Asn1660His)
c.4903A>C (p.Asn1635His)
c.4801A>C (p.Asn1601His)
c.4432A>C (p.Asn1478His)
5g.112840875A>GCA16032873APCc.5335A>G (p.Asn1779Asp)
c.*5287A>G (n.*5287A>G)
c.5227A>G (p.Asn1743Asp)
c.5281A>G (p.Asn1761Asp)
c.*4603A>G (n.*4603A>G)
c.230+11903A>G
c.5311A>G (p.Asn1771Asp)
c.5206A>G (p.Asn1736Asp)
c.5197A>G (p.Asn1733Asp)
c.5158A>G (p.Asn1720Asp)
c.5104A>G (p.Asn1702Asp)
c.5008A>G (p.Asn1670Asp)
c.4978A>G (p.Asn1660Asp)
c.4903A>G (p.Asn1635Asp)
c.4801A>G (p.Asn1601Asp)
c.4432A>G (p.Asn1478Asp)
5g.112840875A>TCA16032874APCc.5335A>T (p.Asn1779Tyr)
c.*5287A>T (n.*5287A>T)
c.5227A>T (p.Asn1743Tyr)
c.5281A>T (p.Asn1761Tyr)
c.*4603A>T (n.*4603A>T)
c.230+11903A>T
c.5311A>T (p.Asn1771Tyr)
c.5206A>T (p.Asn1736Tyr)
c.5197A>T (p.Asn1733Tyr)
c.5158A>T (p.Asn1720Tyr)
c.5104A>T (p.Asn1702Tyr)
c.5008A>T (p.Asn1670Tyr)
c.4978A>T (p.Asn1660Tyr)
c.4903A>T (p.Asn1635Tyr)
c.4801A>T (p.Asn1601Tyr)
c.4432A>T (p.Asn1478Tyr)
 ClinVar dbSNP
5g.112840876_112840877insAAAAAAAACA2767942116APCc.5336_5337insAAAAAAAA (p.Asn1779LysfsTer8)
c.*5288_*5289insAAAAAAAA (n.*5288_*5289insAAAAAAAA)
c.5228_5229insAAAAAAAA (p.Asn1743LysfsTer8)
c.5282_5283insAAAAAAAA (p.Asn1761LysfsTer8)
c.*4604_*4605insAAAAAAAA (n.*4604_*4605insAAAAAAAA)
c.230+11904_230+11905insAAAAAAAA
c.5312_5313insAAAAAAAA (p.Asn1771LysfsTer8)
c.5207_5208insAAAAAAAA (p.Asn1736LysfsTer8)
c.5198_5199insAAAAAAAA (p.Asn1733LysfsTer8)
c.5159_5160insAAAAAAAA (p.Asn1720LysfsTer8)
c.5105_5106insAAAAAAAA (p.Asn1702LysfsTer8)
c.5009_5010insAAAAAAAA (p.Asn1670LysfsTer8)
c.4979_4980insAAAAAAAA (p.Asn1660LysfsTer8)
c.4904_4905insAAAAAAAA (p.Asn1635LysfsTer8)
c.4802_4803insAAAAAAAA (p.Asn1601LysfsTer8)
c.4433_4434insAAAAAAAA (p.Asn1478LysfsTer8)
5g.112840876_112840877insAAAAAAAAACA2767942118APCc.5336_5337insAAAAAAAAA (p.Pro1778_Asn1779insLysLysLys)
c.*5288_*5289insAAAAAAAAA (n.*5288_*5289insAAAAAAAAA)
c.5228_5229insAAAAAAAAA (p.Pro1742_Asn1743insLysLysLys)
c.5282_5283insAAAAAAAAA (p.Pro1760_Asn1761insLysLysLys)
c.*4604_*4605insAAAAAAAAA (n.*4604_*4605insAAAAAAAAA)
c.230+11904_230+11905insAAAAAAAAA
c.5312_5313insAAAAAAAAA (p.Pro1770_Asn1771insLysLysLys)
c.5207_5208insAAAAAAAAA (p.Pro1735_Asn1736insLysLysLys)
c.5198_5199insAAAAAAAAA (p.Pro1732_Asn1733insLysLysLys)
c.5159_5160insAAAAAAAAA (p.Pro1719_Asn1720insLysLysLys)
c.5105_5106insAAAAAAAAA (p.Pro1701_Asn1702insLysLysLys)
c.5009_5010insAAAAAAAAA (p.Pro1669_Asn1670insLysLysLys)
c.4979_4980insAAAAAAAAA (p.Pro1659_Asn1660insLysLysLys)
c.4904_4905insAAAAAAAAA (p.Pro1634_Asn1635insLysLysLys)
c.4802_4803insAAAAAAAAA (p.Pro1600_Asn1601insLysLysLys)
c.4433_4434insAAAAAAAAA (p.Pro1477_Asn1478insLysLysLys)
5g.112840876A=CA1573475255APCc.5336A= (p.Asn1779=)
c.*5288A= (n.*5288A=)
c.5228A= (p.Asn1743=)
c.5282A= (p.Asn1761=)
c.*4604A= (n.*4604A=)
c.230+11904A=
c.5312A= (p.Asn1771=)
c.5207A= (p.Asn1736=)
c.5198A= (p.Asn1733=)
c.5159A= (p.Asn1720=)
c.5105A= (p.Asn1702=)
c.5009A= (p.Asn1670=)
c.4979A= (p.Asn1660=)
c.4904A= (p.Asn1635=)
c.4802A= (p.Asn1601=)
c.4433A= (p.Asn1478=)
5g.112840876A>CCA10582324APCc.5336A>C (p.Asn1779Thr)
c.*5288A>C (n.*5288A>C)
c.5228A>C (p.Asn1743Thr)
c.5282A>C (p.Asn1761Thr)
c.*4604A>C (n.*4604A>C)
c.230+11904A>C
c.5312A>C (p.Asn1771Thr)
c.5207A>C (p.Asn1736Thr)
c.5198A>C (p.Asn1733Thr)
c.5159A>C (p.Asn1720Thr)
c.5105A>C (p.Asn1702Thr)
c.5009A>C (p.Asn1670Thr)
c.4979A>C (p.Asn1660Thr)
c.4904A>C (p.Asn1635Thr)
c.4802A>C (p.Asn1601Thr)
c.4433A>C (p.Asn1478Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840876A>GCA041233APCc.5336A>G (p.Asn1779Ser)
c.*5288A>G (n.*5288A>G)
c.5228A>G (p.Asn1743Ser)
c.5282A>G (p.Asn1761Ser)
c.*4604A>G (n.*4604A>G)
c.230+11904A>G
c.5312A>G (p.Asn1771Ser)
c.5207A>G (p.Asn1736Ser)
c.5198A>G (p.Asn1733Ser)
c.5159A>G (p.Asn1720Ser)
c.5105A>G (p.Asn1702Ser)
c.5009A>G (p.Asn1670Ser)
c.4979A>G (p.Asn1660Ser)
c.4904A>G (p.Asn1635Ser)
c.4802A>G (p.Asn1601Ser)
c.4433A>G (p.Asn1478Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840876A>TCA16032875APCc.5336A>T (p.Asn1779Ile)
c.*5288A>T (n.*5288A>T)
c.5228A>T (p.Asn1743Ile)
c.5282A>T (p.Asn1761Ile)
c.*4604A>T (n.*4604A>T)
c.230+11904A>T
c.5312A>T (p.Asn1771Ile)
c.5207A>T (p.Asn1736Ile)
c.5198A>T (p.Asn1733Ile)
c.5159A>T (p.Asn1720Ile)
c.5105A>T (p.Asn1702Ile)
c.5009A>T (p.Asn1670Ile)
c.4979A>T (p.Asn1660Ile)
c.4904A>T (p.Asn1635Ile)
c.4802A>T (p.Asn1601Ile)
c.4433A>T (p.Asn1478Ile)
 dbSNP
5g.112840877C>ACA16032876APCc.5337C>A (p.Asn1779Lys)
c.*5289C>A (n.*5289C>A)
c.5229C>A (p.Asn1743Lys)
c.5283C>A (p.Asn1761Lys)
c.*4605C>A (n.*4605C>A)
c.230+11905C>A
c.5313C>A (p.Asn1771Lys)
c.5208C>A (p.Asn1736Lys)
c.5199C>A (p.Asn1733Lys)
c.5160C>A (p.Asn1720Lys)
c.5106C>A (p.Asn1702Lys)
c.5010C>A (p.Asn1670Lys)
c.4980C>A (p.Asn1660Lys)
c.4905C>A (p.Asn1635Lys)
c.4803C>A (p.Asn1601Lys)
c.4434C>A (p.Asn1478Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840877C=CA1573475276APCc.5337C= (p.Asn1779=)
c.*5289C= (n.*5289C=)
c.5229C= (p.Asn1743=)
c.5283C= (p.Asn1761=)
c.*4605C= (n.*4605C=)
c.230+11905C=
c.5313C= (p.Asn1771=)
c.5208C= (p.Asn1736=)
c.5199C= (p.Asn1733=)
c.5160C= (p.Asn1720=)
c.5106C= (p.Asn1702=)
c.5010C= (p.Asn1670=)
c.4980C= (p.Asn1660=)
c.4905C= (p.Asn1635=)
c.4803C= (p.Asn1601=)
c.4434C= (p.Asn1478=)
5g.112840877C>GCA16032877APCc.5337C>G (p.Asn1779Lys)
c.*5289C>G (n.*5289C>G)
c.5229C>G (p.Asn1743Lys)
c.5283C>G (p.Asn1761Lys)
c.*4605C>G (n.*4605C>G)
c.230+11905C>G
c.5313C>G (p.Asn1771Lys)
c.5208C>G (p.Asn1736Lys)
c.5199C>G (p.Asn1733Lys)
c.5160C>G (p.Asn1720Lys)
c.5106C>G (p.Asn1702Lys)
c.5010C>G (p.Asn1670Lys)
c.4980C>G (p.Asn1660Lys)
c.4905C>G (p.Asn1635Lys)
c.4803C>G (p.Asn1601Lys)
c.4434C>G (p.Asn1478Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840877C>TCA446209683APCc.5337C>T (p.Asn1779=)
c.*5289C>T (n.*5289C>T)
c.5229C>T (p.Asn1743=)
c.5283C>T (p.Asn1761=)
c.*4605C>T (n.*4605C>T)
c.230+11905C>T
c.5313C>T (p.Asn1771=)
c.5208C>T (p.Asn1736=)
c.5199C>T (p.Asn1733=)
c.5160C>T (p.Asn1720=)
c.5106C>T (p.Asn1702=)
c.5010C>T (p.Asn1670=)
c.4980C>T (p.Asn1660=)
c.4905C>T (p.Asn1635=)
c.4803C>T (p.Asn1601=)
c.4434C>T (p.Asn1478=)
 ClinVar dbSNP gnomAD v4
5g.112840878A=CA1573475292APCc.5338A= (p.Lys1780=)
c.*5290A= (n.*5290A=)
c.5230A= (p.Lys1744=)
c.5284A= (p.Lys1762=)
c.*4606A= (n.*4606A=)
c.230+11906A=
c.5314A= (p.Lys1772=)
c.5209A= (p.Lys1737=)
c.5200A= (p.Lys1734=)
c.5161A= (p.Lys1721=)
c.5107A= (p.Lys1703=)
c.5011A= (p.Lys1671=)
c.4981A= (p.Lys1661=)
c.4906A= (p.Lys1636=)
c.4804A= (p.Lys1602=)
c.4435A= (p.Lys1479=)
5g.112840878A>CCA16032878APCc.5338A>C (p.Lys1780Gln)
c.*5290A>C (n.*5290A>C)
c.5230A>C (p.Lys1744Gln)
c.5284A>C (p.Lys1762Gln)
c.*4606A>C (n.*4606A>C)
c.230+11906A>C
c.5314A>C (p.Lys1772Gln)
c.5209A>C (p.Lys1737Gln)
c.5200A>C (p.Lys1734Gln)
c.5161A>C (p.Lys1721Gln)
c.5107A>C (p.Lys1703Gln)
c.5011A>C (p.Lys1671Gln)
c.4981A>C (p.Lys1661Gln)
c.4906A>C (p.Lys1636Gln)
c.4804A>C (p.Lys1602Gln)
c.4435A>C (p.Lys1479Gln)
 dbSNP
5g.112840878A>GCA16032879APCc.5338A>G (p.Lys1780Glu)
c.*5290A>G (n.*5290A>G)
c.5230A>G (p.Lys1744Glu)
c.5284A>G (p.Lys1762Glu)
c.*4606A>G (n.*4606A>G)
c.230+11906A>G
c.5314A>G (p.Lys1772Glu)
c.5209A>G (p.Lys1737Glu)
c.5200A>G (p.Lys1734Glu)
c.5161A>G (p.Lys1721Glu)
c.5107A>G (p.Lys1703Glu)
c.5011A>G (p.Lys1671Glu)
c.4981A>G (p.Lys1661Glu)
c.4906A>G (p.Lys1636Glu)
c.4804A>G (p.Lys1602Glu)
c.4435A>G (p.Lys1479Glu)
 ClinVar dbSNP
5g.112840878A>TCA16032880APCc.5338A>T (p.Lys1780Ter)
c.*5290A>T (n.*5290A>T)
c.5230A>T (p.Lys1744Ter)
c.5284A>T (p.Lys1762Ter)
c.*4606A>T (n.*4606A>T)
c.230+11906A>T
c.5314A>T (p.Lys1772Ter)
c.5209A>T (p.Lys1737Ter)
c.5200A>T (p.Lys1734Ter)
c.5161A>T (p.Lys1721Ter)
c.5107A>T (p.Lys1703Ter)
c.5011A>T (p.Lys1671Ter)
c.4981A>T (p.Lys1661Ter)
c.4906A>T (p.Lys1636Ter)
c.4804A>T (p.Lys1602Ter)
c.4435A>T (p.Lys1479Ter)
 dbSNP
5g.112840882delCA645543988APCc.5342del (p.Asn1781IlefsTer3)
c.*5294del (n.*5294del)
c.5234del (p.Asn1745IlefsTer3)
c.5288del (p.Asn1763IlefsTer3)
c.*4610del (n.*4610del)
c.230+11910del
c.5318del (p.Asn1773IlefsTer3)
c.5213del (p.Asn1738IlefsTer3)
c.5204del (p.Asn1735IlefsTer3)
c.5165del (p.Asn1722IlefsTer3)
c.5111del (p.Asn1704IlefsTer3)
c.5015del (p.Asn1672IlefsTer3)
c.4985del (p.Asn1662IlefsTer3)
c.4910del (p.Asn1637IlefsTer3)
c.4808del (p.Asn1603IlefsTer3)
c.4439del (p.Asn1480IlefsTer3)
 COSMIC
5g.112840879A=CA1573475295APCc.5339A= (p.Lys1780=)
c.*5291A= (n.*5291A=)
c.5231A= (p.Lys1744=)
c.5285A= (p.Lys1762=)
c.*4607A= (n.*4607A=)
c.230+11907A=
c.5315A= (p.Lys1772=)
c.5210A= (p.Lys1737=)
c.5201A= (p.Lys1734=)
c.5162A= (p.Lys1721=)
c.5108A= (p.Lys1703=)
c.5012A= (p.Lys1671=)
c.4982A= (p.Lys1661=)
c.4907A= (p.Lys1636=)
c.4805A= (p.Lys1602=)
c.4436A= (p.Lys1479=)
5g.112840879A>CCA16032881APCc.5339A>C (p.Lys1780Thr)
c.*5291A>C (n.*5291A>C)
c.5231A>C (p.Lys1744Thr)
c.5285A>C (p.Lys1762Thr)
c.*4607A>C (n.*4607A>C)
c.230+11907A>C
c.5315A>C (p.Lys1772Thr)
c.5210A>C (p.Lys1737Thr)
c.5201A>C (p.Lys1734Thr)
c.5162A>C (p.Lys1721Thr)
c.5108A>C (p.Lys1703Thr)
c.5012A>C (p.Lys1671Thr)
c.4982A>C (p.Lys1661Thr)
c.4907A>C (p.Lys1636Thr)
c.4805A>C (p.Lys1602Thr)
c.4436A>C (p.Lys1479Thr)
 ClinVar dbSNP gnomAD v4
5g.112840879A>GCA16032882APCc.5339A>G (p.Lys1780Arg)
c.*5291A>G (n.*5291A>G)
c.5231A>G (p.Lys1744Arg)
c.5285A>G (p.Lys1762Arg)
c.*4607A>G (n.*4607A>G)
c.230+11907A>G
c.5315A>G (p.Lys1772Arg)
c.5210A>G (p.Lys1737Arg)
c.5201A>G (p.Lys1734Arg)
c.5162A>G (p.Lys1721Arg)
c.5108A>G (p.Lys1703Arg)
c.5012A>G (p.Lys1671Arg)
c.4982A>G (p.Lys1661Arg)
c.4907A>G (p.Lys1636Arg)
c.4805A>G (p.Lys1602Arg)
c.4436A>G (p.Lys1479Arg)
 ClinVar dbSNP gnomAD v4
5g.112840879A>TCA16032883APCc.5339A>T (p.Lys1780Ile)
c.*5291A>T (n.*5291A>T)
c.5231A>T (p.Lys1744Ile)
c.5285A>T (p.Lys1762Ile)
c.*4607A>T (n.*4607A>T)
c.230+11907A>T
c.5315A>T (p.Lys1772Ile)
c.5210A>T (p.Lys1737Ile)
c.5201A>T (p.Lys1734Ile)
c.5162A>T (p.Lys1721Ile)
c.5108A>T (p.Lys1703Ile)
c.5012A>T (p.Lys1671Ile)
c.4982A>T (p.Lys1661Ile)
c.4907A>T (p.Lys1636Ile)
c.4805A>T (p.Lys1602Ile)
c.4436A>T (p.Lys1479Ile)
 dbSNP
5g.112840880A=CA1573475302APCc.5340A= (p.Lys1780=)
c.*5292A= (n.*5292A=)
c.5232A= (p.Lys1744=)
c.5286A= (p.Lys1762=)
c.*4608A= (n.*4608A=)
c.230+11908A=
c.5316A= (p.Lys1772=)
c.5211A= (p.Lys1737=)
c.5202A= (p.Lys1734=)
c.5163A= (p.Lys1721=)
c.5109A= (p.Lys1703=)
c.5013A= (p.Lys1671=)
c.4983A= (p.Lys1661=)
c.4908A= (p.Lys1636=)
c.4806A= (p.Lys1602=)
c.4437A= (p.Lys1479=)
5g.112840880A>CCA16032884APCc.5340A>C (p.Lys1780Asn)
c.*5292A>C (n.*5292A>C)
c.5232A>C (p.Lys1744Asn)
c.5286A>C (p.Lys1762Asn)
c.*4608A>C (n.*4608A>C)
c.230+11908A>C
c.5316A>C (p.Lys1772Asn)
c.5211A>C (p.Lys1737Asn)
c.5202A>C (p.Lys1734Asn)
c.5163A>C (p.Lys1721Asn)
c.5109A>C (p.Lys1703Asn)
c.5013A>C (p.Lys1671Asn)
c.4983A>C (p.Lys1661Asn)
c.4908A>C (p.Lys1636Asn)
c.4806A>C (p.Lys1602Asn)
c.4437A>C (p.Lys1479Asn)
 ClinVar dbSNP
5g.112840880A>GCA446208774APCc.5340A>G (p.Lys1780=)
c.*5292A>G (n.*5292A>G)
c.5232A>G (p.Lys1744=)
c.5286A>G (p.Lys1762=)
c.*4608A>G (n.*4608A>G)
c.230+11908A>G
c.5316A>G (p.Lys1772=)
c.5211A>G (p.Lys1737=)
c.5202A>G (p.Lys1734=)
c.5163A>G (p.Lys1721=)
c.5109A>G (p.Lys1703=)
c.5013A>G (p.Lys1671=)
c.4983A>G (p.Lys1661=)
c.4908A>G (p.Lys1636=)
c.4806A>G (p.Lys1602=)
c.4437A>G (p.Lys1479=)
 dbSNP
5g.112840880A>TCA16032885APCc.5340A>T (p.Lys1780Asn)
c.*5292A>T (n.*5292A>T)
c.5232A>T (p.Lys1744Asn)
c.5286A>T (p.Lys1762Asn)
c.*4608A>T (n.*4608A>T)
c.230+11908A>T
c.5316A>T (p.Lys1772Asn)
c.5211A>T (p.Lys1737Asn)
c.5202A>T (p.Lys1734Asn)
c.5163A>T (p.Lys1721Asn)
c.5109A>T (p.Lys1703Asn)
c.5013A>T (p.Lys1671Asn)
c.4983A>T (p.Lys1661Asn)
c.4908A>T (p.Lys1636Asn)
c.4806A>T (p.Lys1602Asn)
c.4437A>T (p.Lys1479Asn)
 dbSNP
5g.112840881A=CA1573475314APCc.5341A= (p.Asn1781=)
c.*5293A= (n.*5293A=)
c.5233A= (p.Asn1745=)
c.5287A= (p.Asn1763=)
c.*4609A= (n.*4609A=)
c.230+11909A=
c.5317A= (p.Asn1773=)
c.5212A= (p.Asn1738=)
c.5203A= (p.Asn1735=)
c.5164A= (p.Asn1722=)
c.5110A= (p.Asn1704=)
c.5014A= (p.Asn1672=)
c.4984A= (p.Asn1662=)
c.4909A= (p.Asn1637=)
c.4807A= (p.Asn1603=)
c.4438A= (p.Asn1480=)
5g.112840881A>CCA16032886APCc.5341A>C (p.Asn1781His)
c.*5293A>C (n.*5293A>C)
c.5233A>C (p.Asn1745His)
c.5287A>C (p.Asn1763His)
c.*4609A>C (n.*4609A>C)
c.230+11909A>C
c.5317A>C (p.Asn1773His)
c.5212A>C (p.Asn1738His)
c.5203A>C (p.Asn1735His)
c.5164A>C (p.Asn1722His)
c.5110A>C (p.Asn1704His)
c.5014A>C (p.Asn1672His)
c.4984A>C (p.Asn1662His)
c.4909A>C (p.Asn1637His)
c.4807A>C (p.Asn1603His)
c.4438A>C (p.Asn1480His)
5g.112840881A>GCA16032887APCc.5341A>G (p.Asn1781Asp)
c.*5293A>G (n.*5293A>G)
c.5233A>G (p.Asn1745Asp)
c.5287A>G (p.Asn1763Asp)
c.*4609A>G (n.*4609A>G)
c.230+11909A>G
c.5317A>G (p.Asn1773Asp)
c.5212A>G (p.Asn1738Asp)
c.5203A>G (p.Asn1735Asp)
c.5164A>G (p.Asn1722Asp)
c.5110A>G (p.Asn1704Asp)
c.5014A>G (p.Asn1672Asp)
c.4984A>G (p.Asn1662Asp)
c.4909A>G (p.Asn1637Asp)
c.4807A>G (p.Asn1603Asp)
c.4438A>G (p.Asn1480Asp)
 ClinVar dbSNP
5g.112840881A>TCA16032888APCc.5341A>T (p.Asn1781Tyr)
c.*5293A>T (n.*5293A>T)
c.5233A>T (p.Asn1745Tyr)
c.5287A>T (p.Asn1763Tyr)
c.*4609A>T (n.*4609A>T)
c.230+11909A>T
c.5317A>T (p.Asn1773Tyr)
c.5212A>T (p.Asn1738Tyr)
c.5203A>T (p.Asn1735Tyr)
c.5164A>T (p.Asn1722Tyr)
c.5110A>T (p.Asn1704Tyr)
c.5014A>T (p.Asn1672Tyr)
c.4984A>T (p.Asn1662Tyr)
c.4909A>T (p.Asn1637Tyr)
c.4807A>T (p.Asn1603Tyr)
c.4438A>T (p.Asn1480Tyr)
 dbSNP
5g.112840882A=CA1573475320APCc.5342A= (p.Asn1781=)
c.*5294A= (n.*5294A=)
c.5234A= (p.Asn1745=)
c.5288A= (p.Asn1763=)
c.*4610A= (n.*4610A=)
c.230+11910A=
c.5318A= (p.Asn1773=)
c.5213A= (p.Asn1738=)
c.5204A= (p.Asn1735=)
c.5165A= (p.Asn1722=)
c.5111A= (p.Asn1704=)
c.5015A= (p.Asn1672=)
c.4985A= (p.Asn1662=)
c.4910A= (p.Asn1637=)
c.4808A= (p.Asn1603=)
c.4439A= (p.Asn1480=)
5g.112840882A>CCA16032889APCc.5342A>C (p.Asn1781Thr)
c.*5294A>C (n.*5294A>C)
c.5234A>C (p.Asn1745Thr)
c.5288A>C (p.Asn1763Thr)
c.*4610A>C (n.*4610A>C)
c.230+11910A>C
c.5318A>C (p.Asn1773Thr)
c.5213A>C (p.Asn1738Thr)
c.5204A>C (p.Asn1735Thr)
c.5165A>C (p.Asn1722Thr)
c.5111A>C (p.Asn1704Thr)
c.5015A>C (p.Asn1672Thr)
c.4985A>C (p.Asn1662Thr)
c.4910A>C (p.Asn1637Thr)
c.4808A>C (p.Asn1603Thr)
c.4439A>C (p.Asn1480Thr)
5g.112840882A>GCA16032890APCc.5342A>G (p.Asn1781Ser)
c.*5294A>G (n.*5294A>G)
c.5234A>G (p.Asn1745Ser)
c.5288A>G (p.Asn1763Ser)
c.*4610A>G (n.*4610A>G)
c.230+11910A>G
c.5318A>G (p.Asn1773Ser)
c.5213A>G (p.Asn1738Ser)
c.5204A>G (p.Asn1735Ser)
c.5165A>G (p.Asn1722Ser)
c.5111A>G (p.Asn1704Ser)
c.5015A>G (p.Asn1672Ser)
c.4985A>G (p.Asn1662Ser)
c.4910A>G (p.Asn1637Ser)
c.4808A>G (p.Asn1603Ser)
c.4439A>G (p.Asn1480Ser)
 ClinVar dbSNP
5g.112840882A>TCA16032891APCc.5342A>T (p.Asn1781Ile)
c.*5294A>T (n.*5294A>T)
c.5234A>T (p.Asn1745Ile)
c.5288A>T (p.Asn1763Ile)
c.*4610A>T (n.*4610A>T)
c.230+11910A>T
c.5318A>T (p.Asn1773Ile)
c.5213A>T (p.Asn1738Ile)
c.5204A>T (p.Asn1735Ile)
c.5165A>T (p.Asn1722Ile)
c.5111A>T (p.Asn1704Ile)
c.5015A>T (p.Asn1672Ile)
c.4985A>T (p.Asn1662Ile)
c.4910A>T (p.Asn1637Ile)
c.4808A>T (p.Asn1603Ile)
c.4439A>T (p.Asn1480Ile)
 dbSNP
5g.112840883T>ACA16032892APCc.5343T>A (p.Asn1781Lys)
c.*5295T>A (n.*5295T>A)
c.5235T>A (p.Asn1745Lys)
c.5289T>A (p.Asn1763Lys)
c.*4611T>A (n.*4611T>A)
c.230+11911T>A
c.5319T>A (p.Asn1773Lys)
c.5214T>A (p.Asn1738Lys)
c.5205T>A (p.Asn1735Lys)
c.5166T>A (p.Asn1722Lys)
c.5112T>A (p.Asn1704Lys)
c.5016T>A (p.Asn1672Lys)
c.4986T>A (p.Asn1662Lys)
c.4911T>A (p.Asn1637Lys)
c.4809T>A (p.Asn1603Lys)
c.4440T>A (p.Asn1480Lys)
 dbSNP
5g.112840883T>CCA446208775APCc.5343T>C (p.Asn1781=)
c.*5295T>C (n.*5295T>C)
c.5235T>C (p.Asn1745=)
c.5289T>C (p.Asn1763=)
c.*4611T>C (n.*4611T>C)
c.230+11911T>C
c.5319T>C (p.Asn1773=)
c.5214T>C (p.Asn1738=)
c.5205T>C (p.Asn1735=)
c.5166T>C (p.Asn1722=)
c.5112T>C (p.Asn1704=)
c.5016T>C (p.Asn1672=)
c.4986T>C (p.Asn1662=)
c.4911T>C (p.Asn1637=)
c.4809T>C (p.Asn1603=)
c.4440T>C (p.Asn1480=)
 dbSNP
5g.112840883T>GCA16032893APCc.5343T>G (p.Asn1781Lys)
c.*5295T>G (n.*5295T>G)
c.5235T>G (p.Asn1745Lys)
c.5289T>G (p.Asn1763Lys)
c.*4611T>G (n.*4611T>G)
c.230+11911T>G
c.5319T>G (p.Asn1773Lys)
c.5214T>G (p.Asn1738Lys)
c.5205T>G (p.Asn1735Lys)
c.5166T>G (p.Asn1722Lys)
c.5112T>G (p.Asn1704Lys)
c.5016T>G (p.Asn1672Lys)
c.4986T>G (p.Asn1662Lys)
c.4911T>G (p.Asn1637Lys)
c.4809T>G (p.Asn1603Lys)
c.4440T>G (p.Asn1480Lys)
 dbSNP
5g.112840884C>ACA16032894APCc.5344C>A (p.Gln1782Lys)
c.*5296C>A (n.*5296C>A)
c.5236C>A (p.Gln1746Lys)
c.5290C>A (p.Gln1764Lys)
c.*4612C>A (n.*4612C>A)
c.230+11912C>A
c.5320C>A (p.Gln1774Lys)
c.5215C>A (p.Gln1739Lys)
c.5206C>A (p.Gln1736Lys)
c.5167C>A (p.Gln1723Lys)
c.5113C>A (p.Gln1705Lys)
c.5017C>A (p.Gln1673Lys)
c.4987C>A (p.Gln1663Lys)
c.4912C>A (p.Gln1638Lys)
c.4810C>A (p.Gln1604Lys)
c.4441C>A (p.Gln1481Lys)
 dbSNP gnomAD v4
5g.112840884C=CA1573475327APCc.5344C= (p.Gln1782=)
c.*5296C= (n.*5296C=)
c.5236C= (p.Gln1746=)
c.5290C= (p.Gln1764=)
c.*4612C= (n.*4612C=)
c.230+11912C=
c.5320C= (p.Gln1774=)
c.5215C= (p.Gln1739=)
c.5206C= (p.Gln1736=)
c.5167C= (p.Gln1723=)
c.5113C= (p.Gln1705=)
c.5017C= (p.Gln1673=)
c.4987C= (p.Gln1663=)
c.4912C= (p.Gln1638=)
c.4810C= (p.Gln1604=)
c.4441C= (p.Gln1481=)
5g.112840884C>GCA010025APCc.5344C>G (p.Gln1782Glu)
c.*5296C>G (n.*5296C>G)
c.5236C>G (p.Gln1746Glu)
c.5290C>G (p.Gln1764Glu)
c.*4612C>G (n.*4612C>G)
c.230+11912C>G
c.5320C>G (p.Gln1774Glu)
c.5215C>G (p.Gln1739Glu)
c.5206C>G (p.Gln1736Glu)
c.5167C>G (p.Gln1723Glu)
c.5113C>G (p.Gln1705Glu)
c.5017C>G (p.Gln1673Glu)
c.4987C>G (p.Gln1663Glu)
c.4912C>G (p.Gln1638Glu)
c.4810C>G (p.Gln1604Glu)
c.4441C>G (p.Gln1481Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840884C>TCA16032895APCc.5344C>T (p.Gln1782Ter)
c.*5296C>T (n.*5296C>T)
c.5236C>T (p.Gln1746Ter)
c.5290C>T (p.Gln1764Ter)
c.*4612C>T (n.*4612C>T)
c.230+11912C>T
c.5320C>T (p.Gln1774Ter)
c.5215C>T (p.Gln1739Ter)
c.5206C>T (p.Gln1736Ter)
c.5167C>T (p.Gln1723Ter)
c.5113C>T (p.Gln1705Ter)
c.5017C>T (p.Gln1673Ter)
c.4987C>T (p.Gln1663Ter)
c.4912C>T (p.Gln1638Ter)
c.4810C>T (p.Gln1604Ter)
c.4441C>T (p.Gln1481Ter)
 dbSNP
5g.112840884_112840888delinsCAGTTCA1573475346APCc.5344_5348delinsCAGTT (p.Gln1782=)
c.*5296_*5300delinsCAGTT (n.*5296_*5300delinsCAGTT)
c.5236_5240delinsCAGTT (p.Gln1746=)
c.5290_5294delinsCAGTT (p.Gln1764=)
c.*4612_*4616delinsCAGTT (n.*4612_*4616delinsCAGTT)
c.230+11912_230+11916delinsCAGTT
c.5320_5324delinsCAGTT (p.Gln1774=)
c.5215_5219delinsCAGTT (p.Gln1739=)
c.5206_5210delinsCAGTT (p.Gln1736=)
c.5167_5171delinsCAGTT (p.Gln1723=)
c.5113_5117delinsCAGTT (p.Gln1705=)
c.5017_5021delinsCAGTT (p.Gln1673=)
c.4987_4991delinsCAGTT (p.Gln1663=)
c.4912_4916delinsCAGTT (p.Gln1638=)
c.4810_4814delinsCAGTT (p.Gln1604=)
c.4441_4445delinsCAGTT (p.Gln1481=)
5g.112840885A>CCA16032896APCc.5345A>C (p.Gln1782Pro)
c.*5297A>C (n.*5297A>C)
c.5237A>C (p.Gln1746Pro)
c.5291A>C (p.Gln1764Pro)
c.*4613A>C (n.*4613A>C)
c.230+11913A>C
c.5321A>C (p.Gln1774Pro)
c.5216A>C (p.Gln1739Pro)
c.5207A>C (p.Gln1736Pro)
c.5168A>C (p.Gln1723Pro)
c.5114A>C (p.Gln1705Pro)
c.5018A>C (p.Gln1673Pro)
c.4988A>C (p.Gln1663Pro)
c.4913A>C (p.Gln1638Pro)
c.4811A>C (p.Gln1604Pro)
c.4442A>C (p.Gln1481Pro)
5g.112840885A>GCA16032897APCc.5345A>G (p.Gln1782Arg)
c.*5297A>G (n.*5297A>G)
c.5237A>G (p.Gln1746Arg)
c.5291A>G (p.Gln1764Arg)
c.*4613A>G (n.*4613A>G)
c.230+11913A>G
c.5321A>G (p.Gln1774Arg)
c.5216A>G (p.Gln1739Arg)
c.5207A>G (p.Gln1736Arg)
c.5168A>G (p.Gln1723Arg)
c.5114A>G (p.Gln1705Arg)
c.5018A>G (p.Gln1673Arg)
c.4988A>G (p.Gln1663Arg)
c.4913A>G (p.Gln1638Arg)
c.4811A>G (p.Gln1604Arg)
c.4442A>G (p.Gln1481Arg)
 ClinVar dbSNP
5g.112840885A>TCA16032898APCc.5345A>T (p.Gln1782Leu)
c.*5297A>T (n.*5297A>T)
c.5237A>T (p.Gln1746Leu)
c.5291A>T (p.Gln1764Leu)
c.*4613A>T (n.*4613A>T)
c.230+11913A>T
c.5321A>T (p.Gln1774Leu)
c.5216A>T (p.Gln1739Leu)
c.5207A>T (p.Gln1736Leu)
c.5168A>T (p.Gln1723Leu)
c.5114A>T (p.Gln1705Leu)
c.5018A>T (p.Gln1673Leu)
c.4988A>T (p.Gln1663Leu)
c.4913A>T (p.Gln1638Leu)
c.4811A>T (p.Gln1604Leu)
c.4442A>T (p.Gln1481Leu)
 dbSNP
5g.112840887_112840890delCA891843025APCc.5347_5350del (p.Leu1783MetfsTer11)
c.*5299_*5302del (n.*5299_*5302del)
c.5239_5242del (p.Leu1747MetfsTer11)
c.5293_5296del (p.Leu1765MetfsTer11)
c.*4615_*4618del (n.*4615_*4618del)
c.230+11915_230+11918del
c.5323_5326del (p.Leu1775MetfsTer11)
c.5218_5221del (p.Leu1740MetfsTer11)
c.5209_5212del (p.Leu1737MetfsTer11)
c.5170_5173del (p.Leu1724MetfsTer11)
c.5116_5119del (p.Leu1706MetfsTer11)
c.5020_5023del (p.Leu1674MetfsTer11)
c.4990_4993del (p.Leu1664MetfsTer11)
c.4915_4918del (p.Leu1639MetfsTer11)
c.4813_4816del (p.Leu1605MetfsTer11)
c.4444_4447del (p.Leu1482MetfsTer11)
 ClinVar dbSNP
5g.112840886G>ACA446208776APCc.5346G>A (p.Gln1782=)
c.*5298G>A (n.*5298G>A)
c.5238G>A (p.Gln1746=)
c.5292G>A (p.Gln1764=)
c.*4614G>A (n.*4614G>A)
c.230+11914G>A
c.5322G>A (p.Gln1774=)
c.5217G>A (p.Gln1739=)
c.5208G>A (p.Gln1736=)
c.5169G>A (p.Gln1723=)
c.5115G>A (p.Gln1705=)
c.5019G>A (p.Gln1673=)
c.4989G>A (p.Gln1663=)
c.4914G>A (p.Gln1638=)
c.4812G>A (p.Gln1604=)
c.4443G>A (p.Gln1481=)
 dbSNP
5g.112840886G>CCA10578401APCc.5346G>C (p.Gln1782His)
c.*5298G>C (n.*5298G>C)
c.5238G>C (p.Gln1746His)
c.5292G>C (p.Gln1764His)
c.*4614G>C (n.*4614G>C)
c.230+11914G>C
c.5322G>C (p.Gln1774His)
c.5217G>C (p.Gln1739His)
c.5208G>C (p.Gln1736His)
c.5169G>C (p.Gln1723His)
c.5115G>C (p.Gln1705His)
c.5019G>C (p.Gln1673His)
c.4989G>C (p.Gln1663His)
c.4914G>C (p.Gln1638His)
c.4812G>C (p.Gln1604His)
c.4443G>C (p.Gln1481His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840886G=CA1573475367APCc.5346G= (p.Gln1782=)
c.*5298G= (n.*5298G=)
c.5238G= (p.Gln1746=)
c.5292G= (p.Gln1764=)
c.*4614G= (n.*4614G=)
c.230+11914G=
c.5322G= (p.Gln1774=)
c.5217G= (p.Gln1739=)
c.5208G= (p.Gln1736=)
c.5169G= (p.Gln1723=)
c.5115G= (p.Gln1705=)
c.5019G= (p.Gln1673=)
c.4989G= (p.Gln1663=)
c.4914G= (p.Gln1638=)
c.4812G= (p.Gln1604=)
c.4443G= (p.Gln1481=)
5g.112840886G>TCA16032899APCc.5346G>T (p.Gln1782His)
c.*5298G>T (n.*5298G>T)
c.5238G>T (p.Gln1746His)
c.5292G>T (p.Gln1764His)
c.*4614G>T (n.*4614G>T)
c.230+11914G>T
c.5322G>T (p.Gln1774His)
c.5217G>T (p.Gln1739His)
c.5208G>T (p.Gln1736His)
c.5169G>T (p.Gln1723His)
c.5115G>T (p.Gln1705His)
c.5019G>T (p.Gln1673His)
c.4989G>T (p.Gln1663His)
c.4914G>T (p.Gln1638His)
c.4812G>T (p.Gln1604His)
c.4443G>T (p.Gln1481His)
 dbSNP gnomAD v2
5g.112840887T>ACA16032900APCc.5347T>A (p.Leu1783Ile)
c.*5299T>A (n.*5299T>A)
c.5239T>A (p.Leu1747Ile)
c.5293T>A (p.Leu1765Ile)
c.*4615T>A (n.*4615T>A)
c.230+11915T>A
c.5323T>A (p.Leu1775Ile)
c.5218T>A (p.Leu1740Ile)
c.5209T>A (p.Leu1737Ile)
c.5170T>A (p.Leu1724Ile)
c.5116T>A (p.Leu1706Ile)
c.5020T>A (p.Leu1674Ile)
c.4990T>A (p.Leu1664Ile)
c.4915T>A (p.Leu1639Ile)
c.4813T>A (p.Leu1605Ile)
c.4444T>A (p.Leu1482Ile)
 dbSNP
5g.112840887T>CCA446208777APCc.5347T>C (p.Leu1783=)
c.*5299T>C (n.*5299T>C)
c.5239T>C (p.Leu1747=)
c.5293T>C (p.Leu1765=)
c.*4615T>C (n.*4615T>C)
c.230+11915T>C
c.5323T>C (p.Leu1775=)
c.5218T>C (p.Leu1740=)
c.5209T>C (p.Leu1737=)
c.5170T>C (p.Leu1724=)
c.5116T>C (p.Leu1706=)
c.5020T>C (p.Leu1674=)
c.4990T>C (p.Leu1664=)
c.4915T>C (p.Leu1639=)
c.4813T>C (p.Leu1605=)
c.4444T>C (p.Leu1482=)
 ClinVar
5g.112840887T>GCA16032901APCc.5347T>G (p.Leu1783Val)
c.*5299T>G (n.*5299T>G)
c.5239T>G (p.Leu1747Val)
c.5293T>G (p.Leu1765Val)
c.*4615T>G (n.*4615T>G)
c.230+11915T>G
c.5323T>G (p.Leu1775Val)
c.5218T>G (p.Leu1740Val)
c.5209T>G (p.Leu1737Val)
c.5170T>G (p.Leu1724Val)
c.5116T>G (p.Leu1706Val)
c.5020T>G (p.Leu1674Val)
c.4990T>G (p.Leu1664Val)
c.4915T>G (p.Leu1639Val)
c.4813T>G (p.Leu1605Val)
c.4444T>G (p.Leu1482Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840887T=CA1573475373APCc.5347T= (p.Leu1783=)
c.*5299T= (n.*5299T=)
c.5239T= (p.Leu1747=)
c.5293T= (p.Leu1765=)
c.*4615T= (n.*4615T=)
c.230+11915T=
c.5323T= (p.Leu1775=)
c.5218T= (p.Leu1740=)
c.5209T= (p.Leu1737=)
c.5170T= (p.Leu1724=)
c.5116T= (p.Leu1706=)
c.5020T= (p.Leu1674=)
c.4990T= (p.Leu1664=)
c.4915T= (p.Leu1639=)
c.4813T= (p.Leu1605=)
c.4444T= (p.Leu1482=)
5g.112840888T>ACA16032902APCc.5348T>A (p.Leu1783Ter)
c.*5300T>A (n.*5300T>A)
c.5240T>A (p.Leu1747Ter)
c.5294T>A (p.Leu1765Ter)
c.*4616T>A (n.*4616T>A)
c.230+11916T>A
c.5324T>A (p.Leu1775Ter)
c.5219T>A (p.Leu1740Ter)
c.5210T>A (p.Leu1737Ter)
c.5171T>A (p.Leu1724Ter)
c.5117T>A (p.Leu1706Ter)
c.5021T>A (p.Leu1674Ter)
c.4991T>A (p.Leu1664Ter)
c.4916T>A (p.Leu1639Ter)
c.4814T>A (p.Leu1605Ter)
c.4445T>A (p.Leu1482Ter)
 dbSNP
5g.112840888T>CCA16032903APCc.5348T>C (p.Leu1783Ser)
c.*5300T>C (n.*5300T>C)
c.5240T>C (p.Leu1747Ser)
c.5294T>C (p.Leu1765Ser)
c.*4616T>C (n.*4616T>C)
c.230+11916T>C
c.5324T>C (p.Leu1775Ser)
c.5219T>C (p.Leu1740Ser)
c.5210T>C (p.Leu1737Ser)
c.5171T>C (p.Leu1724Ser)
c.5117T>C (p.Leu1706Ser)
c.5021T>C (p.Leu1674Ser)
c.4991T>C (p.Leu1664Ser)
c.4916T>C (p.Leu1639Ser)
c.4814T>C (p.Leu1605Ser)
c.4445T>C (p.Leu1482Ser)
 ClinVar dbSNP
5g.112840888T>GCA16032904APCc.5348T>G (p.Leu1783Ter)
c.*5300T>G (n.*5300T>G)
c.5240T>G (p.Leu1747Ter)
c.5294T>G (p.Leu1765Ter)
c.*4616T>G (n.*4616T>G)
c.230+11916T>G
c.5324T>G (p.Leu1775Ter)
c.5219T>G (p.Leu1740Ter)
c.5210T>G (p.Leu1737Ter)
c.5171T>G (p.Leu1724Ter)
c.5117T>G (p.Leu1706Ter)
c.5021T>G (p.Leu1674Ter)
c.4991T>G (p.Leu1664Ter)
c.4916T>G (p.Leu1639Ter)
c.4814T>G (p.Leu1605Ter)
c.4445T>G (p.Leu1482Ter)
5g.112840888T=CA1573475381APCc.5348T= (p.Leu1783=)
c.*5300T= (n.*5300T=)
c.5240T= (p.Leu1747=)
c.5294T= (p.Leu1765=)
c.*4616T= (n.*4616T=)
c.230+11916T=
c.5324T= (p.Leu1775=)
c.5219T= (p.Leu1740=)
c.5210T= (p.Leu1737=)
c.5171T= (p.Leu1724=)
c.5117T= (p.Leu1706=)
c.5021T= (p.Leu1674=)
c.4991T= (p.Leu1664=)
c.4916T= (p.Leu1639=)
c.4814T= (p.Leu1605=)
c.4445T= (p.Leu1482=)
5g.112840889A=CA1573475396APCc.5349A= (p.Leu1783=)
c.*5301A= (n.*5301A=)
c.5241A= (p.Leu1747=)
c.5295A= (p.Leu1765=)
c.*4617A= (n.*4617A=)
c.230+11917A=
c.5325A= (p.Leu1775=)
c.5220A= (p.Leu1740=)
c.5211A= (p.Leu1737=)
c.5172A= (p.Leu1724=)
c.5118A= (p.Leu1706=)
c.5022A= (p.Leu1674=)
c.4992A= (p.Leu1664=)
c.4917A= (p.Leu1639=)
c.4815A= (p.Leu1605=)
c.4446A= (p.Leu1482=)
5g.112840889A>CCA16032905APCc.5349A>C (p.Leu1783Phe)
c.*5301A>C (n.*5301A>C)
c.5241A>C (p.Leu1747Phe)
c.5295A>C (p.Leu1765Phe)
c.*4617A>C (n.*4617A>C)
c.230+11917A>C
c.5325A>C (p.Leu1775Phe)
c.5220A>C (p.Leu1740Phe)
c.5211A>C (p.Leu1737Phe)
c.5172A>C (p.Leu1724Phe)
c.5118A>C (p.Leu1706Phe)
c.5022A>C (p.Leu1674Phe)
c.4992A>C (p.Leu1664Phe)
c.4917A>C (p.Leu1639Phe)
c.4815A>C (p.Leu1605Phe)
c.4446A>C (p.Leu1482Phe)
 ClinVar dbSNP gnomAD v4
5g.112840889A>GCA446208778APCc.5349A>G (p.Leu1783=)
c.*5301A>G (n.*5301A>G)
c.5241A>G (p.Leu1747=)
c.5295A>G (p.Leu1765=)
c.*4617A>G (n.*4617A>G)
c.230+11917A>G
c.5325A>G (p.Leu1775=)
c.5220A>G (p.Leu1740=)
c.5211A>G (p.Leu1737=)
c.5172A>G (p.Leu1724=)
c.5118A>G (p.Leu1706=)
c.5022A>G (p.Leu1674=)
c.4992A>G (p.Leu1664=)
c.4917A>G (p.Leu1639=)
c.4815A>G (p.Leu1605=)
c.4446A>G (p.Leu1482=)
 dbSNP
5g.112840889A>TCA16032906APCc.5349A>T (p.Leu1783Phe)
c.*5301A>T (n.*5301A>T)
c.5241A>T (p.Leu1747Phe)
c.5295A>T (p.Leu1765Phe)
c.*4617A>T (n.*4617A>T)
c.230+11917A>T
c.5325A>T (p.Leu1775Phe)
c.5220A>T (p.Leu1740Phe)
c.5211A>T (p.Leu1737Phe)
c.5172A>T (p.Leu1724Phe)
c.5118A>T (p.Leu1706Phe)
c.5022A>T (p.Leu1674Phe)
c.4992A>T (p.Leu1664Phe)
c.4917A>T (p.Leu1639Phe)
c.4815A>T (p.Leu1605Phe)
c.4446A>T (p.Leu1482Phe)
 dbSNP
5g.112840890G>ACA16032907APCc.5350G>A (p.Asp1784Asn)
c.*5302G>A (n.*5302G>A)
c.5242G>A (p.Asp1748Asn)
c.5296G>A (p.Asp1766Asn)
c.*4618G>A (n.*4618G>A)
c.230+11918G>A
c.5326G>A (p.Asp1776Asn)
c.5221G>A (p.Asp1741Asn)
c.5212G>A (p.Asp1738Asn)
c.5173G>A (p.Asp1725Asn)
c.5119G>A (p.Asp1707Asn)
c.5023G>A (p.Asp1675Asn)
c.4993G>A (p.Asp1665Asn)
c.4918G>A (p.Asp1640Asn)
c.4816G>A (p.Asp1606Asn)
c.4447G>A (p.Asp1483Asn)
 dbSNP
5g.112840890G>CCA16032908APCc.5350G>C (p.Asp1784His)
c.*5302G>C (n.*5302G>C)
c.5242G>C (p.Asp1748His)
c.5296G>C (p.Asp1766His)
c.*4618G>C (n.*4618G>C)
c.230+11918G>C
c.5326G>C (p.Asp1776His)
c.5221G>C (p.Asp1741His)
c.5212G>C (p.Asp1738His)
c.5173G>C (p.Asp1725His)
c.5119G>C (p.Asp1707His)
c.5023G>C (p.Asp1675His)
c.4993G>C (p.Asp1665His)
c.4918G>C (p.Asp1640His)
c.4816G>C (p.Asp1606His)
c.4447G>C (p.Asp1483His)
 ClinVar dbSNP gnomAD v4
5g.112840890G=CA1573475399APCc.5350G= (p.Asp1784=)
c.*5302G= (n.*5302G=)
c.5242G= (p.Asp1748=)
c.5296G= (p.Asp1766=)
c.*4618G= (n.*4618G=)
c.230+11918G=
c.5326G= (p.Asp1776=)
c.5221G= (p.Asp1741=)
c.5212G= (p.Asp1738=)
c.5173G= (p.Asp1725=)
c.5119G= (p.Asp1707=)
c.5023G= (p.Asp1675=)
c.4993G= (p.Asp1665=)
c.4918G= (p.Asp1640=)
c.4816G= (p.Asp1606=)
c.4447G= (p.Asp1483=)
5g.112840890G>TCA16032909APCc.5350G>T (p.Asp1784Tyr)
c.*5302G>T (n.*5302G>T)
c.5242G>T (p.Asp1748Tyr)
c.5296G>T (p.Asp1766Tyr)
c.*4618G>T (n.*4618G>T)
c.230+11918G>T
c.5326G>T (p.Asp1776Tyr)
c.5221G>T (p.Asp1741Tyr)
c.5212G>T (p.Asp1738Tyr)
c.5173G>T (p.Asp1725Tyr)
c.5119G>T (p.Asp1707Tyr)
c.5023G>T (p.Asp1675Tyr)
c.4993G>T (p.Asp1665Tyr)
c.4918G>T (p.Asp1640Tyr)
c.4816G>T (p.Asp1606Tyr)
c.4447G>T (p.Asp1483Tyr)
 dbSNP
5g.112840891A=CA1573475403APCc.5351A= (p.Asp1784=)
c.*5303A= (n.*5303A=)
c.5243A= (p.Asp1748=)
c.5297A= (p.Asp1766=)
c.*4619A= (n.*4619A=)
c.230+11919A=
c.5327A= (p.Asp1776=)
c.5222A= (p.Asp1741=)
c.5213A= (p.Asp1738=)
c.5174A= (p.Asp1725=)
c.5120A= (p.Asp1707=)
c.5024A= (p.Asp1675=)
c.4994A= (p.Asp1665=)
c.4919A= (p.Asp1640=)
c.4817A= (p.Asp1606=)
c.4448A= (p.Asp1483=)
5g.112840891A>CCA16032910APCc.5351A>C (p.Asp1784Ala)
c.*5303A>C (n.*5303A>C)
c.5243A>C (p.Asp1748Ala)
c.5297A>C (p.Asp1766Ala)
c.*4619A>C (n.*4619A>C)
c.230+11919A>C
c.5327A>C (p.Asp1776Ala)
c.5222A>C (p.Asp1741Ala)
c.5213A>C (p.Asp1738Ala)
c.5174A>C (p.Asp1725Ala)
c.5120A>C (p.Asp1707Ala)
c.5024A>C (p.Asp1675Ala)
c.4994A>C (p.Asp1665Ala)
c.4919A>C (p.Asp1640Ala)
c.4817A>C (p.Asp1606Ala)
c.4448A>C (p.Asp1483Ala)
5g.112840891A>GCA16032911APCc.5351A>G (p.Asp1784Gly)
c.*5303A>G (n.*5303A>G)
c.5243A>G (p.Asp1748Gly)
c.5297A>G (p.Asp1766Gly)
c.*4619A>G (n.*4619A>G)
c.230+11919A>G
c.5327A>G (p.Asp1776Gly)
c.5222A>G (p.Asp1741Gly)
c.5213A>G (p.Asp1738Gly)
c.5174A>G (p.Asp1725Gly)
c.5120A>G (p.Asp1707Gly)
c.5024A>G (p.Asp1675Gly)
c.4994A>G (p.Asp1665Gly)
c.4919A>G (p.Asp1640Gly)
c.4817A>G (p.Asp1606Gly)
c.4448A>G (p.Asp1483Gly)
 ClinVar dbSNP COSMIC
5g.112840891A>TCA16032912APCc.5351A>T (p.Asp1784Val)
c.*5303A>T (n.*5303A>T)
c.5243A>T (p.Asp1748Val)
c.5297A>T (p.Asp1766Val)
c.*4619A>T (n.*4619A>T)
c.230+11919A>T
c.5327A>T (p.Asp1776Val)
c.5222A>T (p.Asp1741Val)
c.5213A>T (p.Asp1738Val)
c.5174A>T (p.Asp1725Val)
c.5120A>T (p.Asp1707Val)
c.5024A>T (p.Asp1675Val)
c.4994A>T (p.Asp1665Val)
c.4919A>T (p.Asp1640Val)
c.4817A>T (p.Asp1606Val)
c.4448A>T (p.Asp1483Val)
 dbSNP gnomAD v4
5g.112840892T>ACA16032913APCc.5352T>A (p.Asp1784Glu)
c.*5304T>A (n.*5304T>A)
c.5244T>A (p.Asp1748Glu)
c.5298T>A (p.Asp1766Glu)
c.*4620T>A (n.*4620T>A)
c.230+11920T>A
c.5328T>A (p.Asp1776Glu)
c.5223T>A (p.Asp1741Glu)
c.5214T>A (p.Asp1738Glu)
c.5175T>A (p.Asp1725Glu)
c.5121T>A (p.Asp1707Glu)
c.5025T>A (p.Asp1675Glu)
c.4995T>A (p.Asp1665Glu)
c.4920T>A (p.Asp1640Glu)
c.4818T>A (p.Asp1606Glu)
c.4449T>A (p.Asp1483Glu)
5g.112840892T>CCA041274APCc.5352T>C (p.Asp1784=)
c.*5304T>C (n.*5304T>C)
c.5244T>C (p.Asp1748=)
c.5298T>C (p.Asp1766=)
c.*4620T>C (n.*4620T>C)
c.230+11920T>C
c.5328T>C (p.Asp1776=)
c.5223T>C (p.Asp1741=)
c.5214T>C (p.Asp1738=)
c.5175T>C (p.Asp1725=)
c.5121T>C (p.Asp1707=)
c.5025T>C (p.Asp1675=)
c.4995T>C (p.Asp1665=)
c.4920T>C (p.Asp1640=)
c.4818T>C (p.Asp1606=)
c.4449T>C (p.Asp1483=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840892T>GCA16032914APCc.5352T>G (p.Asp1784Glu)
c.*5304T>G (n.*5304T>G)
c.5244T>G (p.Asp1748Glu)
c.5298T>G (p.Asp1766Glu)
c.*4620T>G (n.*4620T>G)
c.230+11920T>G
c.5328T>G (p.Asp1776Glu)
c.5223T>G (p.Asp1741Glu)
c.5214T>G (p.Asp1738Glu)
c.5175T>G (p.Asp1725Glu)
c.5121T>G (p.Asp1707Glu)
c.5025T>G (p.Asp1675Glu)
c.4995T>G (p.Asp1665Glu)
c.4920T>G (p.Asp1640Glu)
c.4818T>G (p.Asp1606Glu)
c.4449T>G (p.Asp1483Glu)
5g.112840892T=CA1573475405APCc.5352T= (p.Asp1784=)
c.*5304T= (n.*5304T=)
c.5244T= (p.Asp1748=)
c.5298T= (p.Asp1766=)
c.*4620T= (n.*4620T=)
c.230+11920T=
c.5328T= (p.Asp1776=)
c.5223T= (p.Asp1741=)
c.5214T= (p.Asp1738=)
c.5175T= (p.Asp1725=)
c.5121T= (p.Asp1707=)
c.5025T= (p.Asp1675=)
c.4995T= (p.Asp1665=)
c.4920T= (p.Asp1640=)
c.4818T= (p.Asp1606=)
c.4449T= (p.Asp1483=)
5g.112840893G>ACA16032915APCc.5353G>A (p.Gly1785Ser)
c.*5305G>A (n.*5305G>A)
c.5245G>A (p.Gly1749Ser)
c.5299G>A (p.Gly1767Ser)
c.*4621G>A (n.*4621G>A)
c.230+11921G>A
c.5329G>A (p.Gly1777Ser)
c.5224G>A (p.Gly1742Ser)
c.5215G>A (p.Gly1739Ser)
c.5176G>A (p.Gly1726Ser)
c.5122G>A (p.Gly1708Ser)
c.5026G>A (p.Gly1676Ser)
c.4996G>A (p.Gly1666Ser)
c.4921G>A (p.Gly1641Ser)
c.4819G>A (p.Gly1607Ser)
c.4450G>A (p.Gly1484Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840893G>CCA16032916APCc.5353G>C (p.Gly1785Arg)
c.*5305G>C (n.*5305G>C)
c.5245G>C (p.Gly1749Arg)
c.5299G>C (p.Gly1767Arg)
c.*4621G>C (n.*4621G>C)
c.230+11921G>C
c.5329G>C (p.Gly1777Arg)
c.5224G>C (p.Gly1742Arg)
c.5215G>C (p.Gly1739Arg)
c.5176G>C (p.Gly1726Arg)
c.5122G>C (p.Gly1708Arg)
c.5026G>C (p.Gly1676Arg)
c.4996G>C (p.Gly1666Arg)
c.4921G>C (p.Gly1641Arg)
c.4819G>C (p.Gly1607Arg)
c.4450G>C (p.Gly1484Arg)
 ClinVar dbSNP
5g.112840893G=CA1573475423APCc.5353G= (p.Gly1785=)
c.*5305G= (n.*5305G=)
c.5245G= (p.Gly1749=)
c.5299G= (p.Gly1767=)
c.*4621G= (n.*4621G=)
c.230+11921G=
c.5329G= (p.Gly1777=)
c.5224G= (p.Gly1742=)
c.5215G= (p.Gly1739=)
c.5176G= (p.Gly1726=)
c.5122G= (p.Gly1708=)
c.5026G= (p.Gly1676=)
c.4996G= (p.Gly1666=)
c.4921G= (p.Gly1641=)
c.4819G= (p.Gly1607=)
c.4450G= (p.Gly1484=)
5g.112840893G>TCA16032917APCc.5353G>T (p.Gly1785Cys)
c.*5305G>T (n.*5305G>T)
c.5245G>T (p.Gly1749Cys)
c.5299G>T (p.Gly1767Cys)
c.*4621G>T (n.*4621G>T)
c.230+11921G>T
c.5329G>T (p.Gly1777Cys)
c.5224G>T (p.Gly1742Cys)
c.5215G>T (p.Gly1739Cys)
c.5176G>T (p.Gly1726Cys)
c.5122G>T (p.Gly1708Cys)
c.5026G>T (p.Gly1676Cys)
c.4996G>T (p.Gly1666Cys)
c.4921G>T (p.Gly1641Cys)
c.4819G>T (p.Gly1607Cys)
c.4450G>T (p.Gly1484Cys)
 ClinVar dbSNP
5g.112840894G>ACA16032918APCc.5354G>A (p.Gly1785Asp)
c.*5306G>A (n.*5306G>A)
c.5246G>A (p.Gly1749Asp)
c.5300G>A (p.Gly1767Asp)
c.*4622G>A (n.*4622G>A)
c.230+11922G>A
c.5330G>A (p.Gly1777Asp)
c.5225G>A (p.Gly1742Asp)
c.5216G>A (p.Gly1739Asp)
c.5177G>A (p.Gly1726Asp)
c.5123G>A (p.Gly1708Asp)
c.5027G>A (p.Gly1676Asp)
c.4997G>A (p.Gly1666Asp)
c.4922G>A (p.Gly1641Asp)
c.4820G>A (p.Gly1607Asp)
c.4451G>A (p.Gly1484Asp)
 ClinVar dbSNP gnomAD v4
5g.112840894G>CCA16032919APCc.5354G>C (p.Gly1785Ala)
c.*5306G>C (n.*5306G>C)
c.5246G>C (p.Gly1749Ala)
c.5300G>C (p.Gly1767Ala)
c.*4622G>C (n.*4622G>C)
c.230+11922G>C
c.5330G>C (p.Gly1777Ala)
c.5225G>C (p.Gly1742Ala)
c.5216G>C (p.Gly1739Ala)
c.5177G>C (p.Gly1726Ala)
c.5123G>C (p.Gly1708Ala)
c.5027G>C (p.Gly1676Ala)
c.4997G>C (p.Gly1666Ala)
c.4922G>C (p.Gly1641Ala)
c.4820G>C (p.Gly1607Ala)
c.4451G>C (p.Gly1484Ala)
 ClinVar dbSNP
5g.112840894G=CA1573475428APCc.5354G= (p.Gly1785=)
c.*5306G= (n.*5306G=)
c.5246G= (p.Gly1749=)
c.5300G= (p.Gly1767=)
c.*4622G= (n.*4622G=)
c.230+11922G=
c.5330G= (p.Gly1777=)
c.5225G= (p.Gly1742=)
c.5216G= (p.Gly1739=)
c.5177G= (p.Gly1726=)
c.5123G= (p.Gly1708=)
c.5027G= (p.Gly1676=)
c.4997G= (p.Gly1666=)
c.4922G= (p.Gly1641=)
c.4820G= (p.Gly1607=)
c.4451G= (p.Gly1484=)
5g.112840894G>TCA16032920APCc.5354G>T (p.Gly1785Val)
c.*5306G>T (n.*5306G>T)
c.5246G>T (p.Gly1749Val)
c.5300G>T (p.Gly1767Val)
c.*4622G>T (n.*4622G>T)
c.230+11922G>T
c.5330G>T (p.Gly1777Val)
c.5225G>T (p.Gly1742Val)
c.5216G>T (p.Gly1739Val)
c.5177G>T (p.Gly1726Val)
c.5123G>T (p.Gly1708Val)
c.5027G>T (p.Gly1676Val)
c.4997G>T (p.Gly1666Val)
c.4922G>T (p.Gly1641Val)
c.4820G>T (p.Gly1607Val)
c.4451G>T (p.Gly1484Val)
 ClinVar dbSNP
5g.112840904_112840968delCA2582341429APCc.5364_5428del (p.Lys1789CysfsTer6)
c.*5316_*5380del (n.*5316_*5380del)
c.5256_5320del (p.Lys1753CysfsTer6)
c.5310_5374del (p.Lys1771CysfsTer6)
c.*4632_*4696del (n.*4632_*4696del)
c.230+11932_230+11996del
c.5340_5404del (p.Lys1781CysfsTer6)
c.5235_5299del (p.Lys1746CysfsTer6)
c.5226_5290del (p.Lys1743CysfsTer6)
c.5187_5251del (p.Lys1730CysfsTer6)
c.5133_5197del (p.Lys1712CysfsTer6)
c.5037_5101del (p.Lys1680CysfsTer6)
c.5007_5071del (p.Lys1670CysfsTer6)
c.4932_4996del (p.Lys1645CysfsTer6)
c.4830_4894del (p.Lys1611CysfsTer6)
c.4461_4525del (p.Lys1488CysfsTer6)
 ClinVar
5g.112840895T>ACA446208779APCc.5355T>A (p.Gly1785=)
c.*5307T>A (n.*5307T>A)
c.5247T>A (p.Gly1749=)
c.5301T>A (p.Gly1767=)
c.*4623T>A (n.*4623T>A)
c.230+11923T>A
c.5331T>A (p.Gly1777=)
c.5226T>A (p.Gly1742=)
c.5217T>A (p.Gly1739=)
c.5178T>A (p.Gly1726=)
c.5124T>A (p.Gly1708=)
c.5028T>A (p.Gly1676=)
c.4998T>A (p.Gly1666=)
c.4923T>A (p.Gly1641=)
c.4821T>A (p.Gly1607=)
c.4452T>A (p.Gly1484=)
5g.112840895T>CCA446208780APCc.5355T>C (p.Gly1785=)
c.*5307T>C (n.*5307T>C)
c.5247T>C (p.Gly1749=)
c.5301T>C (p.Gly1767=)
c.*4623T>C (n.*4623T>C)
c.230+11923T>C
c.5331T>C (p.Gly1777=)
c.5226T>C (p.Gly1742=)
c.5217T>C (p.Gly1739=)
c.5178T>C (p.Gly1726=)
c.5124T>C (p.Gly1708=)
c.5028T>C (p.Gly1676=)
c.4998T>C (p.Gly1666=)
c.4923T>C (p.Gly1641=)
c.4821T>C (p.Gly1607=)
c.4452T>C (p.Gly1484=)
5g.112840895T>GCA446208781APCc.5355T>G (p.Gly1785=)
c.*5307T>G (n.*5307T>G)
c.5247T>G (p.Gly1749=)
c.5301T>G (p.Gly1767=)
c.*4623T>G (n.*4623T>G)
c.230+11923T>G
c.5331T>G (p.Gly1777=)
c.5226T>G (p.Gly1742=)
c.5217T>G (p.Gly1739=)
c.5178T>G (p.Gly1726=)
c.5124T>G (p.Gly1708=)
c.5028T>G (p.Gly1676=)
c.4998T>G (p.Gly1666=)
c.4923T>G (p.Gly1641=)
c.4821T>G (p.Gly1607=)
c.4452T>G (p.Gly1484=)
5g.112840896A=CA1573475437APCc.5356A= (p.Lys1786=)
c.*5308A= (n.*5308A=)
c.5248A= (p.Lys1750=)
c.5302A= (p.Lys1768=)
c.*4624A= (n.*4624A=)
c.230+11924A=
c.5332A= (p.Lys1778=)
c.5227A= (p.Lys1743=)
c.5218A= (p.Lys1740=)
c.5179A= (p.Lys1727=)
c.5125A= (p.Lys1709=)
c.5029A= (p.Lys1677=)
c.4999A= (p.Lys1667=)
c.4924A= (p.Lys1642=)
c.4822A= (p.Lys1608=)
c.4453A= (p.Lys1485=)
5g.112840896A>CCA16032921APCc.5356A>C (p.Lys1786Gln)
c.*5308A>C (n.*5308A>C)
c.5248A>C (p.Lys1750Gln)
c.5302A>C (p.Lys1768Gln)
c.*4624A>C (n.*4624A>C)
c.230+11924A>C
c.5332A>C (p.Lys1778Gln)
c.5227A>C (p.Lys1743Gln)
c.5218A>C (p.Lys1740Gln)
c.5179A>C (p.Lys1727Gln)
c.5125A>C (p.Lys1709Gln)
c.5029A>C (p.Lys1677Gln)
c.4999A>C (p.Lys1667Gln)
c.4924A>C (p.Lys1642Gln)
c.4822A>C (p.Lys1608Gln)
c.4453A>C (p.Lys1485Gln)
5g.112840896A>GCA010041APCc.5356A>G (p.Lys1786Glu)
c.*5308A>G (n.*5308A>G)
c.5248A>G (p.Lys1750Glu)
c.5302A>G (p.Lys1768Glu)
c.*4624A>G (n.*4624A>G)
c.230+11924A>G
c.5332A>G (p.Lys1778Glu)
c.5227A>G (p.Lys1743Glu)
c.5218A>G (p.Lys1740Glu)
c.5179A>G (p.Lys1727Glu)
c.5125A>G (p.Lys1709Glu)
c.5029A>G (p.Lys1677Glu)
c.4999A>G (p.Lys1667Glu)
c.4924A>G (p.Lys1642Glu)
c.4822A>G (p.Lys1608Glu)
c.4453A>G (p.Lys1485Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840896A>TCA16032922APCc.5356A>T (p.Lys1786Ter)
c.*5308A>T (n.*5308A>T)
c.5248A>T (p.Lys1750Ter)
c.5302A>T (p.Lys1768Ter)
c.*4624A>T (n.*4624A>T)
c.230+11924A>T
c.5332A>T (p.Lys1778Ter)
c.5227A>T (p.Lys1743Ter)
c.5218A>T (p.Lys1740Ter)
c.5179A>T (p.Lys1727Ter)
c.5125A>T (p.Lys1709Ter)
c.5029A>T (p.Lys1677Ter)
c.4999A>T (p.Lys1667Ter)
c.4924A>T (p.Lys1642Ter)
c.4822A>T (p.Lys1608Ter)
c.4453A>T (p.Lys1485Ter)
 dbSNP
5g.112840897_112840898insAAAACA2767942133APCc.5357_5358insAAAA (p.Lys1788GlufsTer16)
c.*5309_*5310insAAAA (n.*5309_*5310insAAAA)
c.5249_5250insAAAA (p.Lys1752GlufsTer16)
c.5303_5304insAAAA (p.Lys1770GlufsTer16)
c.*4625_*4626insAAAA (n.*4625_*4626insAAAA)
c.230+11925_230+11926insAAAA
c.5333_5334insAAAA (p.Lys1780GlufsTer16)
c.5228_5229insAAAA (p.Lys1745GlufsTer16)
c.5219_5220insAAAA (p.Lys1742GlufsTer16)
c.5180_5181insAAAA (p.Lys1729GlufsTer16)
c.5126_5127insAAAA (p.Lys1711GlufsTer16)
c.5030_5031insAAAA (p.Lys1679GlufsTer16)
c.5000_5001insAAAA (p.Lys1669GlufsTer16)
c.4925_4926insAAAA (p.Lys1644GlufsTer16)
c.4823_4824insAAAA (p.Lys1610GlufsTer16)
c.4454_4455insAAAA (p.Lys1487GlufsTer16)
5g.112840897_112840898insAAAAAACA2767942134APCc.5357_5358insAAAAAA (p.Lys1786_Lys1787insLysLys)
c.*5309_*5310insAAAAAA (n.*5309_*5310insAAAAAA)
c.5249_5250insAAAAAA (p.Lys1750_Lys1751insLysLys)
c.5303_5304insAAAAAA (p.Lys1768_Lys1769insLysLys)
c.*4625_*4626insAAAAAA (n.*4625_*4626insAAAAAA)
c.230+11925_230+11926insAAAAAA
c.5333_5334insAAAAAA (p.Lys1778_Lys1779insLysLys)
c.5228_5229insAAAAAA (p.Lys1743_Lys1744insLysLys)
c.5219_5220insAAAAAA (p.Lys1740_Lys1741insLysLys)
c.5180_5181insAAAAAA (p.Lys1727_Lys1728insLysLys)
c.5126_5127insAAAAAA (p.Lys1709_Lys1710insLysLys)
c.5030_5031insAAAAAA (p.Lys1677_Lys1678insLysLys)
c.5000_5001insAAAAAA (p.Lys1667_Lys1668insLysLys)
c.4925_4926insAAAAAA (p.Lys1642_Lys1643insLysLys)
c.4823_4824insAAAAAA (p.Lys1608_Lys1609insLysLys)
c.4454_4455insAAAAAA (p.Lys1485_Lys1486insLysLys)
5g.112840897A>CCA16032923APCc.5357A>C (p.Lys1786Thr)
c.*5309A>C (n.*5309A>C)
c.5249A>C (p.Lys1750Thr)
c.5303A>C (p.Lys1768Thr)
c.*4625A>C (n.*4625A>C)
c.230+11925A>C
c.5333A>C (p.Lys1778Thr)
c.5228A>C (p.Lys1743Thr)
c.5219A>C (p.Lys1740Thr)
c.5180A>C (p.Lys1727Thr)
c.5126A>C (p.Lys1709Thr)
c.5030A>C (p.Lys1677Thr)
c.5000A>C (p.Lys1667Thr)
c.4925A>C (p.Lys1642Thr)
c.4823A>C (p.Lys1608Thr)
c.4454A>C (p.Lys1485Thr)
5g.112840897A>GCA16032924APCc.5357A>G (p.Lys1786Arg)
c.*5309A>G (n.*5309A>G)
c.5249A>G (p.Lys1750Arg)
c.5303A>G (p.Lys1768Arg)
c.*4625A>G (n.*4625A>G)
c.230+11925A>G
c.5333A>G (p.Lys1778Arg)
c.5228A>G (p.Lys1743Arg)
c.5219A>G (p.Lys1740Arg)
c.5180A>G (p.Lys1727Arg)
c.5126A>G (p.Lys1709Arg)
c.5030A>G (p.Lys1677Arg)
c.5000A>G (p.Lys1667Arg)
c.4925A>G (p.Lys1642Arg)
c.4823A>G (p.Lys1608Arg)
c.4454A>G (p.Lys1485Arg)
 dbSNP
5g.112840897A>TCA16032925APCc.5357A>T (p.Lys1786Met)
c.*5309A>T (n.*5309A>T)
c.5249A>T (p.Lys1750Met)
c.5303A>T (p.Lys1768Met)
c.*4625A>T (n.*4625A>T)
c.230+11925A>T
c.5333A>T (p.Lys1778Met)
c.5228A>T (p.Lys1743Met)
c.5219A>T (p.Lys1740Met)
c.5180A>T (p.Lys1727Met)
c.5126A>T (p.Lys1709Met)
c.5030A>T (p.Lys1677Met)
c.5000A>T (p.Lys1667Met)
c.4925A>T (p.Lys1642Met)
c.4823A>T (p.Lys1608Met)
c.4454A>T (p.Lys1485Met)
 dbSNP
5g.112840898G>ACA339368APCc.5358G>A (p.Lys1786=)
c.*5310G>A (n.*5310G>A)
c.5250G>A (p.Lys1750=)
c.5304G>A (p.Lys1768=)
c.*4626G>A (n.*4626G>A)
c.230+11926G>A
c.5334G>A (p.Lys1778=)
c.5229G>A (p.Lys1743=)
c.5220G>A (p.Lys1740=)
c.5181G>A (p.Lys1727=)
c.5127G>A (p.Lys1709=)
c.5031G>A (p.Lys1677=)
c.5001G>A (p.Lys1667=)
c.4926G>A (p.Lys1642=)
c.4824G>A (p.Lys1608=)
c.4455G>A (p.Lys1485=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112840898G>CCA16032926APCc.5358G>C (p.Lys1786Asn)
c.*5310G>C (n.*5310G>C)
c.5250G>C (p.Lys1750Asn)
c.5304G>C (p.Lys1768Asn)
c.*4626G>C (n.*4626G>C)
c.230+11926G>C
c.5334G>C (p.Lys1778Asn)
c.5229G>C (p.Lys1743Asn)
c.5220G>C (p.Lys1740Asn)
c.5181G>C (p.Lys1727Asn)
c.5127G>C (p.Lys1709Asn)
c.5031G>C (p.Lys1677Asn)
c.5001G>C (p.Lys1667Asn)
c.4926G>C (p.Lys1642Asn)
c.4824G>C (p.Lys1608Asn)
c.4455G>C (p.Lys1485Asn)
 ClinVar dbSNP
5g.112840898G=CA1573475458APCc.5358G= (p.Lys1786=)
c.*5310G= (n.*5310G=)
c.5250G= (p.Lys1750=)
c.5304G= (p.Lys1768=)
c.*4626G= (n.*4626G=)
c.230+11926G=
c.5334G= (p.Lys1778=)
c.5229G= (p.Lys1743=)
c.5220G= (p.Lys1740=)
c.5181G= (p.Lys1727=)
c.5127G= (p.Lys1709=)
c.5031G= (p.Lys1677=)
c.5001G= (p.Lys1667=)
c.4926G= (p.Lys1642=)
c.4824G= (p.Lys1608=)
c.4455G= (p.Lys1485=)
5g.112840898G>TCA16032927APCc.5358G>T (p.Lys1786Asn)
c.*5310G>T (n.*5310G>T)
c.5250G>T (p.Lys1750Asn)
c.5304G>T (p.Lys1768Asn)
c.*4626G>T (n.*4626G>T)
c.230+11926G>T
c.5334G>T (p.Lys1778Asn)
c.5229G>T (p.Lys1743Asn)
c.5220G>T (p.Lys1740Asn)
c.5181G>T (p.Lys1727Asn)
c.5127G>T (p.Lys1709Asn)
c.5031G>T (p.Lys1677Asn)
c.5001G>T (p.Lys1667Asn)
c.4926G>T (p.Lys1642Asn)
c.4824G>T (p.Lys1608Asn)
c.4455G>T (p.Lys1485Asn)
5g.112840899A=CA1573475483APCc.5359A= (p.Lys1787=)
c.*5311A= (n.*5311A=)
c.5251A= (p.Lys1751=)
c.5305A= (p.Lys1769=)
c.*4627A= (n.*4627A=)
c.230+11927A=
c.5335A= (p.Lys1779=)
c.5230A= (p.Lys1744=)
c.5221A= (p.Lys1741=)
c.5182A= (p.Lys1728=)
c.5128A= (p.Lys1710=)
c.5032A= (p.Lys1678=)
c.5002A= (p.Lys1668=)
c.4927A= (p.Lys1643=)
c.4825A= (p.Lys1609=)
c.4456A= (p.Lys1486=)
5g.112840899A>CCA16032928APCc.5359A>C (p.Lys1787Gln)
c.*5311A>C (n.*5311A>C)
c.5251A>C (p.Lys1751Gln)
c.5305A>C (p.Lys1769Gln)
c.*4627A>C (n.*4627A>C)
c.230+11927A>C
c.5335A>C (p.Lys1779Gln)
c.5230A>C (p.Lys1744Gln)
c.5221A>C (p.Lys1741Gln)
c.5182A>C (p.Lys1728Gln)
c.5128A>C (p.Lys1710Gln)
c.5032A>C (p.Lys1678Gln)
c.5002A>C (p.Lys1668Gln)
c.4927A>C (p.Lys1643Gln)
c.4825A>C (p.Lys1609Gln)
c.4456A>C (p.Lys1486Gln)
 ClinVar
5g.112840899A>GCA16032929APCc.5359A>G (p.Lys1787Glu)
c.*5311A>G (n.*5311A>G)
c.5251A>G (p.Lys1751Glu)
c.5305A>G (p.Lys1769Glu)
c.*4627A>G (n.*4627A>G)
c.230+11927A>G
c.5335A>G (p.Lys1779Glu)
c.5230A>G (p.Lys1744Glu)
c.5221A>G (p.Lys1741Glu)
c.5182A>G (p.Lys1728Glu)
c.5128A>G (p.Lys1710Glu)
c.5032A>G (p.Lys1678Glu)
c.5002A>G (p.Lys1668Glu)
c.4927A>G (p.Lys1643Glu)
c.4825A>G (p.Lys1609Glu)
c.4456A>G (p.Lys1486Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840899A>TCA16032930APCc.5359A>T (p.Lys1787Ter)
c.*5311A>T (n.*5311A>T)
c.5251A>T (p.Lys1751Ter)
c.5305A>T (p.Lys1769Ter)
c.*4627A>T (n.*4627A>T)
c.230+11927A>T
c.5335A>T (p.Lys1779Ter)
c.5230A>T (p.Lys1744Ter)
c.5221A>T (p.Lys1741Ter)
c.5182A>T (p.Lys1728Ter)
c.5128A>T (p.Lys1710Ter)
c.5032A>T (p.Lys1678Ter)
c.5002A>T (p.Lys1668Ter)
c.4927A>T (p.Lys1643Ter)
c.4825A>T (p.Lys1609Ter)
c.4456A>T (p.Lys1486Ter)
 dbSNP
5g.112840900A>CCA16032931APCc.5360A>C (p.Lys1787Thr)
c.*5312A>C (n.*5312A>C)
c.5252A>C (p.Lys1751Thr)
c.5306A>C (p.Lys1769Thr)
c.*4628A>C (n.*4628A>C)
c.230+11928A>C
c.5336A>C (p.Lys1779Thr)
c.5231A>C (p.Lys1744Thr)
c.5222A>C (p.Lys1741Thr)
c.5183A>C (p.Lys1728Thr)
c.5129A>C (p.Lys1710Thr)
c.5033A>C (p.Lys1678Thr)
c.5003A>C (p.Lys1668Thr)
c.4928A>C (p.Lys1643Thr)
c.4826A>C (p.Lys1609Thr)
c.4457A>C (p.Lys1486Thr)
5g.112840900A>GCA16032932APCc.5360A>G (p.Lys1787Arg)
c.*5312A>G (n.*5312A>G)
c.5252A>G (p.Lys1751Arg)
c.5306A>G (p.Lys1769Arg)
c.*4628A>G (n.*4628A>G)
c.230+11928A>G
c.5336A>G (p.Lys1779Arg)
c.5231A>G (p.Lys1744Arg)
c.5222A>G (p.Lys1741Arg)
c.5183A>G (p.Lys1728Arg)
c.5129A>G (p.Lys1710Arg)
c.5033A>G (p.Lys1678Arg)
c.5003A>G (p.Lys1668Arg)
c.4928A>G (p.Lys1643Arg)
c.4826A>G (p.Lys1609Arg)
c.4457A>G (p.Lys1486Arg)
 dbSNP
5g.112840900A>TCA16032933APCc.5360A>T (p.Lys1787Ile)
c.*5312A>T (n.*5312A>T)
c.5252A>T (p.Lys1751Ile)
c.5306A>T (p.Lys1769Ile)
c.*4628A>T (n.*4628A>T)
c.230+11928A>T
c.5336A>T (p.Lys1779Ile)
c.5231A>T (p.Lys1744Ile)
c.5222A>T (p.Lys1741Ile)
c.5183A>T (p.Lys1728Ile)
c.5129A>T (p.Lys1710Ile)
c.5033A>T (p.Lys1678Ile)
c.5003A>T (p.Lys1668Ile)
c.4928A>T (p.Lys1643Ile)
c.4826A>T (p.Lys1609Ile)
c.4457A>T (p.Lys1486Ile)
5g.112840901A>CCA16032934APCc.5361A>C (p.Lys1787Asn)
c.*5313A>C (n.*5313A>C)
c.5253A>C (p.Lys1751Asn)
c.5307A>C (p.Lys1769Asn)
c.*4629A>C (n.*4629A>C)
c.230+11929A>C
c.5337A>C (p.Lys1779Asn)
c.5232A>C (p.Lys1744Asn)
c.5223A>C (p.Lys1741Asn)
c.5184A>C (p.Lys1728Asn)
c.5130A>C (p.Lys1710Asn)
c.5034A>C (p.Lys1678Asn)
c.5004A>C (p.Lys1668Asn)
c.4929A>C (p.Lys1643Asn)
c.4827A>C (p.Lys1609Asn)
c.4458A>C (p.Lys1486Asn)
5g.112840901A>GCA446208782APCc.5361A>G (p.Lys1787=)
c.*5313A>G (n.*5313A>G)
c.5253A>G (p.Lys1751=)
c.5307A>G (p.Lys1769=)
c.*4629A>G (n.*4629A>G)
c.230+11929A>G
c.5337A>G (p.Lys1779=)
c.5232A>G (p.Lys1744=)
c.5223A>G (p.Lys1741=)
c.5184A>G (p.Lys1728=)
c.5130A>G (p.Lys1710=)
c.5034A>G (p.Lys1678=)
c.5004A>G (p.Lys1668=)
c.4929A>G (p.Lys1643=)
c.4827A>G (p.Lys1609=)
c.4458A>G (p.Lys1486=)
 gnomAD v4
5g.112840901A>TCA16032935APCc.5361A>T (p.Lys1787Asn)
c.*5313A>T (n.*5313A>T)
c.5253A>T (p.Lys1751Asn)
c.5307A>T (p.Lys1769Asn)
c.*4629A>T (n.*4629A>T)
c.230+11929A>T
c.5337A>T (p.Lys1779Asn)
c.5232A>T (p.Lys1744Asn)
c.5223A>T (p.Lys1741Asn)
c.5184A>T (p.Lys1728Asn)
c.5130A>T (p.Lys1710Asn)
c.5034A>T (p.Lys1678Asn)
c.5004A>T (p.Lys1668Asn)
c.4929A>T (p.Lys1643Asn)
c.4827A>T (p.Lys1609Asn)
c.4458A>T (p.Lys1486Asn)
 dbSNP
5g.112840904_112840907delCA2837994517APCc.5364_5367del (p.Lys1788AsnfsTer6)
c.*5316_*5319del (n.*5316_*5319del)
c.5256_5259del (p.Lys1752AsnfsTer6)
c.5310_5313del (p.Lys1770AsnfsTer6)
c.*4632_*4635del (n.*4632_*4635del)
c.230+11932_230+11935del
c.5340_5343del (p.Lys1780AsnfsTer6)
c.5235_5238del (p.Lys1745AsnfsTer6)
c.5226_5229del (p.Lys1742AsnfsTer6)
c.5187_5190del (p.Lys1729AsnfsTer6)
c.5133_5136del (p.Lys1711AsnfsTer6)
c.5037_5040del (p.Lys1679AsnfsTer6)
c.5007_5010del (p.Lys1669AsnfsTer6)
c.4932_4935del (p.Lys1644AsnfsTer6)
c.4830_4833del (p.Lys1610AsnfsTer6)
c.4461_4464del (p.Lys1487AsnfsTer6)
5g.112840902A=CA1573475495APCc.5362A= (p.Lys1788=)
c.*5314A= (n.*5314A=)
c.5254A= (p.Lys1752=)
c.5308A= (p.Lys1770=)
c.*4630A= (n.*4630A=)
c.230+11930A=
c.5338A= (p.Lys1780=)
c.5233A= (p.Lys1745=)
c.5224A= (p.Lys1742=)
c.5185A= (p.Lys1729=)
c.5131A= (p.Lys1711=)
c.5035A= (p.Lys1679=)
c.5005A= (p.Lys1669=)
c.4930A= (p.Lys1644=)
c.4828A= (p.Lys1610=)
c.4459A= (p.Lys1487=)
5g.112840902A>CCA16032936APCc.5362A>C (p.Lys1788Gln)
c.*5314A>C (n.*5314A>C)
c.5254A>C (p.Lys1752Gln)
c.5308A>C (p.Lys1770Gln)
c.*4630A>C (n.*4630A>C)
c.230+11930A>C
c.5338A>C (p.Lys1780Gln)
c.5233A>C (p.Lys1745Gln)
c.5224A>C (p.Lys1742Gln)
c.5185A>C (p.Lys1729Gln)
c.5131A>C (p.Lys1711Gln)
c.5035A>C (p.Lys1679Gln)
c.5005A>C (p.Lys1669Gln)
c.4930A>C (p.Lys1644Gln)
c.4828A>C (p.Lys1610Gln)
c.4459A>C (p.Lys1487Gln)
5g.112840902A>GCA041323APCc.5362A>G (p.Lys1788Glu)
c.*5314A>G (n.*5314A>G)
c.5254A>G (p.Lys1752Glu)
c.5308A>G (p.Lys1770Glu)
c.*4630A>G (n.*4630A>G)
c.230+11930A>G
c.5338A>G (p.Lys1780Glu)
c.5233A>G (p.Lys1745Glu)
c.5224A>G (p.Lys1742Glu)
c.5185A>G (p.Lys1729Glu)
c.5131A>G (p.Lys1711Glu)
c.5035A>G (p.Lys1679Glu)
c.5005A>G (p.Lys1669Glu)
c.4930A>G (p.Lys1644Glu)
c.4828A>G (p.Lys1610Glu)
c.4459A>G (p.Lys1487Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840902A>TCA16032937APCc.5362A>T (p.Lys1788Ter)
c.*5314A>T (n.*5314A>T)
c.5254A>T (p.Lys1752Ter)
c.5308A>T (p.Lys1770Ter)
c.*4630A>T (n.*4630A>T)
c.230+11930A>T
c.5338A>T (p.Lys1780Ter)
c.5233A>T (p.Lys1745Ter)
c.5224A>T (p.Lys1742Ter)
c.5185A>T (p.Lys1729Ter)
c.5131A>T (p.Lys1711Ter)
c.5035A>T (p.Lys1679Ter)
c.5005A>T (p.Lys1669Ter)
c.4930A>T (p.Lys1644Ter)
c.4828A>T (p.Lys1610Ter)
c.4459A>T (p.Lys1487Ter)
 dbSNP
5g.112840903A=CA1573475499APCc.5363A= (p.Lys1788=)
c.*5315A= (n.*5315A=)
c.5255A= (p.Lys1752=)
c.5309A= (p.Lys1770=)
c.*4631A= (n.*4631A=)
c.230+11931A=
c.5339A= (p.Lys1780=)
c.5234A= (p.Lys1745=)
c.5225A= (p.Lys1742=)
c.5186A= (p.Lys1729=)
c.5132A= (p.Lys1711=)
c.5036A= (p.Lys1679=)
c.5006A= (p.Lys1669=)
c.4931A= (p.Lys1644=)
c.4829A= (p.Lys1610=)
c.4460A= (p.Lys1487=)
5g.112840903A>CCA16032938APCc.5363A>C (p.Lys1788Thr)
c.*5315A>C (n.*5315A>C)
c.5255A>C (p.Lys1752Thr)
c.5309A>C (p.Lys1770Thr)
c.*4631A>C (n.*4631A>C)
c.230+11931A>C
c.5339A>C (p.Lys1780Thr)
c.5234A>C (p.Lys1745Thr)
c.5225A>C (p.Lys1742Thr)
c.5186A>C (p.Lys1729Thr)
c.5132A>C (p.Lys1711Thr)
c.5036A>C (p.Lys1679Thr)
c.5006A>C (p.Lys1669Thr)
c.4931A>C (p.Lys1644Thr)
c.4829A>C (p.Lys1610Thr)
c.4460A>C (p.Lys1487Thr)
5g.112840903A>GCA16032939APCc.5363A>G (p.Lys1788Arg)
c.*5315A>G (n.*5315A>G)
c.5255A>G (p.Lys1752Arg)
c.5309A>G (p.Lys1770Arg)
c.*4631A>G (n.*4631A>G)
c.230+11931A>G
c.5339A>G (p.Lys1780Arg)
c.5234A>G (p.Lys1745Arg)
c.5225A>G (p.Lys1742Arg)
c.5186A>G (p.Lys1729Arg)
c.5132A>G (p.Lys1711Arg)
c.5036A>G (p.Lys1679Arg)
c.5006A>G (p.Lys1669Arg)
c.4931A>G (p.Lys1644Arg)
c.4829A>G (p.Lys1610Arg)
c.4460A>G (p.Lys1487Arg)
 ClinVar dbSNP
5g.112840903A>TCA16032940APCc.5363A>T (p.Lys1788Met)
c.*5315A>T (n.*5315A>T)
c.5255A>T (p.Lys1752Met)
c.5309A>T (p.Lys1770Met)
c.*4631A>T (n.*4631A>T)
c.230+11931A>T
c.5339A>T (p.Lys1780Met)
c.5234A>T (p.Lys1745Met)
c.5225A>T (p.Lys1742Met)
c.5186A>T (p.Lys1729Met)
c.5132A>T (p.Lys1711Met)
c.5036A>T (p.Lys1679Met)
c.5006A>T (p.Lys1669Met)
c.4931A>T (p.Lys1644Met)
c.4829A>T (p.Lys1610Met)
c.4460A>T (p.Lys1487Met)
 dbSNP
5g.112840904G>ACA125167795APCc.5364G>A (p.Lys1788=)
c.*5316G>A (n.*5316G>A)
c.5256G>A (p.Lys1752=)
c.5310G>A (p.Lys1770=)
c.*4632G>A (n.*4632G>A)
c.230+11932G>A
c.5340G>A (p.Lys1780=)
c.5235G>A (p.Lys1745=)
c.5226G>A (p.Lys1742=)
c.5187G>A (p.Lys1729=)
c.5133G>A (p.Lys1711=)
c.5037G>A (p.Lys1679=)
c.5007G>A (p.Lys1669=)
c.4932G>A (p.Lys1644=)
c.4830G>A (p.Lys1610=)
c.4461G>A (p.Lys1487=)
 dbSNP gnomAD v3 gnomAD v4
5g.112840904G>CCA16032941APCc.5364G>C (p.Lys1788Asn)
c.*5316G>C (n.*5316G>C)
c.5256G>C (p.Lys1752Asn)
c.5310G>C (p.Lys1770Asn)
c.*4632G>C (n.*4632G>C)
c.230+11932G>C
c.5340G>C (p.Lys1780Asn)
c.5235G>C (p.Lys1745Asn)
c.5226G>C (p.Lys1742Asn)
c.5187G>C (p.Lys1729Asn)
c.5133G>C (p.Lys1711Asn)
c.5037G>C (p.Lys1679Asn)
c.5007G>C (p.Lys1669Asn)
c.4932G>C (p.Lys1644Asn)
c.4830G>C (p.Lys1610Asn)
c.4461G>C (p.Lys1487Asn)
 dbSNP
5g.112840904G=CA1573475508APCc.5364G= (p.Lys1788=)
c.*5316G= (n.*5316G=)
c.5256G= (p.Lys1752=)
c.5310G= (p.Lys1770=)
c.*4632G= (n.*4632G=)
c.230+11932G=
c.5340G= (p.Lys1780=)
c.5235G= (p.Lys1745=)
c.5226G= (p.Lys1742=)
c.5187G= (p.Lys1729=)
c.5133G= (p.Lys1711=)
c.5037G= (p.Lys1679=)
c.5007G= (p.Lys1669=)
c.4932G= (p.Lys1644=)
c.4830G= (p.Lys1610=)
c.4461G= (p.Lys1487=)
5g.112840904G>TCA16032942APCc.5364G>T (p.Lys1788Asn)
c.*5316G>T (n.*5316G>T)
c.5256G>T (p.Lys1752Asn)
c.5310G>T (p.Lys1770Asn)
c.*4632G>T (n.*4632G>T)
c.230+11932G>T
c.5340G>T (p.Lys1780Asn)
c.5235G>T (p.Lys1745Asn)
c.5226G>T (p.Lys1742Asn)
c.5187G>T (p.Lys1729Asn)
c.5133G>T (p.Lys1711Asn)
c.5037G>T (p.Lys1679Asn)
c.5007G>T (p.Lys1669Asn)
c.4932G>T (p.Lys1644Asn)
c.4830G>T (p.Lys1610Asn)
c.4461G>T (p.Lys1487Asn)
 ClinVar dbSNP gnomAD v4
5g.112840905A>CCA16032943APCc.5365A>C (p.Lys1789Gln)
c.*5317A>C (n.*5317A>C)
c.5257A>C (p.Lys1753Gln)
c.5311A>C (p.Lys1771Gln)
c.*4633A>C (n.*4633A>C)
c.230+11933A>C
c.5341A>C (p.Lys1781Gln)
c.5236A>C (p.Lys1746Gln)
c.5227A>C (p.Lys1743Gln)
c.5188A>C (p.Lys1730Gln)
c.5134A>C (p.Lys1712Gln)
c.5038A>C (p.Lys1680Gln)
c.5008A>C (p.Lys1670Gln)
c.4933A>C (p.Lys1645Gln)
c.4831A>C (p.Lys1611Gln)
c.4462A>C (p.Lys1488Gln)
5g.112840905A>GCA16032944APCc.5365A>G (p.Lys1789Glu)
c.*5317A>G (n.*5317A>G)
c.5257A>G (p.Lys1753Glu)
c.5311A>G (p.Lys1771Glu)
c.*4633A>G (n.*4633A>G)
c.230+11933A>G
c.5341A>G (p.Lys1781Glu)
c.5236A>G (p.Lys1746Glu)
c.5227A>G (p.Lys1743Glu)
c.5188A>G (p.Lys1730Glu)
c.5134A>G (p.Lys1712Glu)
c.5038A>G (p.Lys1680Glu)
c.5008A>G (p.Lys1670Glu)
c.4933A>G (p.Lys1645Glu)
c.4831A>G (p.Lys1611Glu)
c.4462A>G (p.Lys1488Glu)
 dbSNP gnomAD v4
5g.112840905A>TCA16032945APCc.5365A>T (p.Lys1789Ter)
c.*5317A>T (n.*5317A>T)
c.5257A>T (p.Lys1753Ter)
c.5311A>T (p.Lys1771Ter)
c.*4633A>T (n.*4633A>T)
c.230+11933A>T
c.5341A>T (p.Lys1781Ter)
c.5236A>T (p.Lys1746Ter)
c.5227A>T (p.Lys1743Ter)
c.5188A>T (p.Lys1730Ter)
c.5134A>T (p.Lys1712Ter)
c.5038A>T (p.Lys1680Ter)
c.5008A>T (p.Lys1670Ter)
c.4933A>T (p.Lys1645Ter)
c.4831A>T (p.Lys1611Ter)
c.4462A>T (p.Lys1488Ter)
5g.112840906A=CA1573475515APCc.5366A= (p.Lys1789=)
c.*5318A= (n.*5318A=)
c.5258A= (p.Lys1753=)
c.5312A= (p.Lys1771=)
c.*4634A= (n.*4634A=)
c.230+11934A=
c.5342A= (p.Lys1781=)
c.5237A= (p.Lys1746=)
c.5228A= (p.Lys1743=)
c.5189A= (p.Lys1730=)
c.5135A= (p.Lys1712=)
c.5039A= (p.Lys1680=)
c.5009A= (p.Lys1670=)
c.4934A= (p.Lys1645=)
c.4832A= (p.Lys1611=)
c.4463A= (p.Lys1488=)
5g.112840906A>CCA16032946APCc.5366A>C (p.Lys1789Thr)
c.*5318A>C (n.*5318A>C)
c.5258A>C (p.Lys1753Thr)
c.5312A>C (p.Lys1771Thr)
c.*4634A>C (n.*4634A>C)
c.230+11934A>C
c.5342A>C (p.Lys1781Thr)
c.5237A>C (p.Lys1746Thr)
c.5228A>C (p.Lys1743Thr)
c.5189A>C (p.Lys1730Thr)
c.5135A>C (p.Lys1712Thr)
c.5039A>C (p.Lys1680Thr)
c.5009A>C (p.Lys1670Thr)
c.4934A>C (p.Lys1645Thr)
c.4832A>C (p.Lys1611Thr)
c.4463A>C (p.Lys1488Thr)
5g.112840906A>GCA16032947APCc.5366A>G (p.Lys1789Arg)
c.*5318A>G (n.*5318A>G)
c.5258A>G (p.Lys1753Arg)
c.5312A>G (p.Lys1771Arg)
c.*4634A>G (n.*4634A>G)
c.230+11934A>G
c.5342A>G (p.Lys1781Arg)
c.5237A>G (p.Lys1746Arg)
c.5228A>G (p.Lys1743Arg)
c.5189A>G (p.Lys1730Arg)
c.5135A>G (p.Lys1712Arg)
c.5039A>G (p.Lys1680Arg)
c.5009A>G (p.Lys1670Arg)
c.4934A>G (p.Lys1645Arg)
c.4832A>G (p.Lys1611Arg)
c.4463A>G (p.Lys1488Arg)
 ClinVar dbSNP
5g.112840906A>TCA16032948APCc.5366A>T (p.Lys1789Ile)
c.*5318A>T (n.*5318A>T)
c.5258A>T (p.Lys1753Ile)
c.5312A>T (p.Lys1771Ile)
c.*4634A>T (n.*4634A>T)
c.230+11934A>T
c.5342A>T (p.Lys1781Ile)
c.5237A>T (p.Lys1746Ile)
c.5228A>T (p.Lys1743Ile)
c.5189A>T (p.Lys1730Ile)
c.5135A>T (p.Lys1712Ile)
c.5039A>T (p.Lys1680Ile)
c.5009A>T (p.Lys1670Ile)
c.4934A>T (p.Lys1645Ile)
c.4832A>T (p.Lys1611Ile)
c.4463A>T (p.Lys1488Ile)
 dbSNP
5g.112840907A>CCA16032949APCc.5367A>C (p.Lys1789Asn)
c.*5319A>C (n.*5319A>C)
c.5259A>C (p.Lys1753Asn)
c.5313A>C (p.Lys1771Asn)
c.*4635A>C (n.*4635A>C)
c.230+11935A>C
c.5343A>C (p.Lys1781Asn)
c.5238A>C (p.Lys1746Asn)
c.5229A>C (p.Lys1743Asn)
c.5190A>C (p.Lys1730Asn)
c.5136A>C (p.Lys1712Asn)
c.5040A>C (p.Lys1680Asn)
c.5010A>C (p.Lys1670Asn)
c.4935A>C (p.Lys1645Asn)
c.4833A>C (p.Lys1611Asn)
c.4464A>C (p.Lys1488Asn)
 dbSNP
5g.112840907A>GCA446208783APCc.5367A>G (p.Lys1789=)
c.*5319A>G (n.*5319A>G)
c.5259A>G (p.Lys1753=)
c.5313A>G (p.Lys1771=)
c.*4635A>G (n.*4635A>G)
c.230+11935A>G
c.5343A>G (p.Lys1781=)
c.5238A>G (p.Lys1746=)
c.5229A>G (p.Lys1743=)
c.5190A>G (p.Lys1730=)
c.5136A>G (p.Lys1712=)
c.5040A>G (p.Lys1680=)
c.5010A>G (p.Lys1670=)
c.4935A>G (p.Lys1645=)
c.4833A>G (p.Lys1611=)
c.4464A>G (p.Lys1488=)
5g.112840907A>TCA16032950APCc.5367A>T (p.Lys1789Asn)
c.*5319A>T (n.*5319A>T)
c.5259A>T (p.Lys1753Asn)
c.5313A>T (p.Lys1771Asn)
c.*4635A>T (n.*4635A>T)
c.230+11935A>T
c.5343A>T (p.Lys1781Asn)
c.5238A>T (p.Lys1746Asn)
c.5229A>T (p.Lys1743Asn)
c.5190A>T (p.Lys1730Asn)
c.5136A>T (p.Lys1712Asn)
c.5040A>T (p.Lys1680Asn)
c.5010A>T (p.Lys1670Asn)
c.4935A>T (p.Lys1645Asn)
c.4833A>T (p.Lys1611Asn)
c.4464A>T (p.Lys1488Asn)
 dbSNP
5g.112840908C>ACA16032951APCc.5368C>A (p.Pro1790Thr)
c.*5320C>A (n.*5320C>A)
c.5260C>A (p.Pro1754Thr)
c.5314C>A (p.Pro1772Thr)
c.*4636C>A (n.*4636C>A)
c.230+11936C>A
c.5344C>A (p.Pro1782Thr)
c.5239C>A (p.Pro1747Thr)
c.5230C>A (p.Pro1744Thr)
c.5191C>A (p.Pro1731Thr)
c.5137C>A (p.Pro1713Thr)
c.5041C>A (p.Pro1681Thr)
c.5011C>A (p.Pro1671Thr)
c.4936C>A (p.Pro1646Thr)
c.4834C>A (p.Pro1612Thr)
c.4465C>A (p.Pro1489Thr)
 dbSNP
5g.112840908C=CA1573475527APCc.5368C= (p.Pro1790=)
c.*5320C= (n.*5320C=)
c.5260C= (p.Pro1754=)
c.5314C= (p.Pro1772=)
c.*4636C= (n.*4636C=)
c.230+11936C=
c.5344C= (p.Pro1782=)
c.5239C= (p.Pro1747=)
c.5230C= (p.Pro1744=)
c.5191C= (p.Pro1731=)
c.5137C= (p.Pro1713=)
c.5041C= (p.Pro1681=)
c.5011C= (p.Pro1671=)
c.4936C= (p.Pro1646=)
c.4834C= (p.Pro1612=)
c.4465C= (p.Pro1489=)
5g.112840908C>GCA16032952APCc.5368C>G (p.Pro1790Ala)
c.*5320C>G (n.*5320C>G)
c.5260C>G (p.Pro1754Ala)
c.5314C>G (p.Pro1772Ala)
c.*4636C>G (n.*4636C>G)
c.230+11936C>G
c.5344C>G (p.Pro1782Ala)
c.5239C>G (p.Pro1747Ala)
c.5230C>G (p.Pro1744Ala)
c.5191C>G (p.Pro1731Ala)
c.5137C>G (p.Pro1713Ala)
c.5041C>G (p.Pro1681Ala)
c.5011C>G (p.Pro1671Ala)
c.4936C>G (p.Pro1646Ala)
c.4834C>G (p.Pro1612Ala)
c.4465C>G (p.Pro1489Ala)
 ClinVar dbSNP
5g.112840908C>TCA16032953APCc.5368C>T (p.Pro1790Ser)
c.*5320C>T (n.*5320C>T)
c.5260C>T (p.Pro1754Ser)
c.5314C>T (p.Pro1772Ser)
c.*4636C>T (n.*4636C>T)
c.230+11936C>T
c.5344C>T (p.Pro1782Ser)
c.5239C>T (p.Pro1747Ser)
c.5230C>T (p.Pro1744Ser)
c.5191C>T (p.Pro1731Ser)
c.5137C>T (p.Pro1713Ser)
c.5041C>T (p.Pro1681Ser)
c.5011C>T (p.Pro1671Ser)
c.4936C>T (p.Pro1646Ser)
c.4834C>T (p.Pro1612Ser)
c.4465C>T (p.Pro1489Ser)
 ClinVar dbSNP
5g.112840909C>ACA16032954APCc.5369C>A (p.Pro1790Gln)
c.*5321C>A (n.*5321C>A)
c.5261C>A (p.Pro1754Gln)
c.5315C>A (p.Pro1772Gln)
c.*4637C>A (n.*4637C>A)
c.230+11937C>A
c.5345C>A (p.Pro1782Gln)
c.5240C>A (p.Pro1747Gln)
c.5231C>A (p.Pro1744Gln)
c.5192C>A (p.Pro1731Gln)
c.5138C>A (p.Pro1713Gln)
c.5042C>A (p.Pro1681Gln)
c.5012C>A (p.Pro1671Gln)
c.4937C>A (p.Pro1646Gln)
c.4835C>A (p.Pro1612Gln)
c.4466C>A (p.Pro1489Gln)
 dbSNP gnomAD v4
5g.112840909C=CA1573475540APCc.5369C= (p.Pro1790=)
c.*5321C= (n.*5321C=)
c.5261C= (p.Pro1754=)
c.5315C= (p.Pro1772=)
c.*4637C= (n.*4637C=)
c.230+11937C=
c.5345C= (p.Pro1782=)
c.5240C= (p.Pro1747=)
c.5231C= (p.Pro1744=)
c.5192C= (p.Pro1731=)
c.5138C= (p.Pro1713=)
c.5042C= (p.Pro1681=)
c.5012C= (p.Pro1671=)
c.4937C= (p.Pro1646=)
c.4835C= (p.Pro1612=)
c.4466C= (p.Pro1489=)
5g.112840909C>GCA16032955APCc.5369C>G (p.Pro1790Arg)
c.*5321C>G (n.*5321C>G)
c.5261C>G (p.Pro1754Arg)
c.5315C>G (p.Pro1772Arg)
c.*4637C>G (n.*4637C>G)
c.230+11937C>G
c.5345C>G (p.Pro1782Arg)
c.5240C>G (p.Pro1747Arg)
c.5231C>G (p.Pro1744Arg)
c.5192C>G (p.Pro1731Arg)
c.5138C>G (p.Pro1713Arg)
c.5042C>G (p.Pro1681Arg)
c.5012C>G (p.Pro1671Arg)
c.4937C>G (p.Pro1646Arg)
c.4835C>G (p.Pro1612Arg)
c.4466C>G (p.Pro1489Arg)
 ClinVar dbSNP
5g.112840909C>TCA16032956APCc.5369C>T (p.Pro1790Leu)
c.*5321C>T (n.*5321C>T)
c.5261C>T (p.Pro1754Leu)
c.5315C>T (p.Pro1772Leu)
c.*4637C>T (n.*4637C>T)
c.230+11937C>T
c.5345C>T (p.Pro1782Leu)
c.5240C>T (p.Pro1747Leu)
c.5231C>T (p.Pro1744Leu)
c.5192C>T (p.Pro1731Leu)
c.5138C>T (p.Pro1713Leu)
c.5042C>T (p.Pro1681Leu)
c.5012C>T (p.Pro1671Leu)
c.4937C>T (p.Pro1646Leu)
c.4835C>T (p.Pro1612Leu)
c.4466C>T (p.Pro1489Leu)
 dbSNP
5g.112840911_112840916delCA2695205310APCc.5371_5376del (p.Thr1791_Ser1792del)
c.*5323_*5328del (n.*5323_*5328del)
c.5263_5268del (p.Thr1755_Ser1756del)
c.5317_5322del (p.Thr1773_Ser1774del)
c.*4639_*4644del (n.*4639_*4644del)
c.230+11939_230+11944del
c.5347_5352del (p.Thr1783_Ser1784del)
c.5242_5247del (p.Thr1748_Ser1749del)
c.5233_5238del (p.Thr1745_Ser1746del)
c.5194_5199del (p.Thr1732_Ser1733del)
c.5140_5145del (p.Thr1714_Ser1715del)
c.5044_5049del (p.Thr1682_Ser1683del)
c.5014_5019del (p.Thr1672_Ser1673del)
c.4939_4944del (p.Thr1647_Ser1648del)
c.4837_4842del (p.Thr1613_Ser1614del)
c.4468_4473del (p.Thr1490_Ser1491del)
5g.112840910A=CA1573475546APCc.5370A= (p.Pro1790=)
c.*5322A= (n.*5322A=)
c.5262A= (p.Pro1754=)
c.5316A= (p.Pro1772=)
c.*4638A= (n.*4638A=)
c.230+11938A=
c.5346A= (p.Pro1782=)
c.5241A= (p.Pro1747=)
c.5232A= (p.Pro1744=)
c.5193A= (p.Pro1731=)
c.5139A= (p.Pro1713=)
c.5043A= (p.Pro1681=)
c.5013A= (p.Pro1671=)
c.4938A= (p.Pro1646=)
c.4836A= (p.Pro1612=)
c.4467A= (p.Pro1489=)
5g.112840910A>CCA446208784APCc.5370A>C (p.Pro1790=)
c.*5322A>C (n.*5322A>C)
c.5262A>C (p.Pro1754=)
c.5316A>C (p.Pro1772=)
c.*4638A>C (n.*4638A>C)
c.230+11938A>C
c.5346A>C (p.Pro1782=)
c.5241A>C (p.Pro1747=)
c.5232A>C (p.Pro1744=)
c.5193A>C (p.Pro1731=)
c.5139A>C (p.Pro1713=)
c.5043A>C (p.Pro1681=)
c.5013A>C (p.Pro1671=)
c.4938A>C (p.Pro1646=)
c.4836A>C (p.Pro1612=)
c.4467A>C (p.Pro1489=)
5g.112840910A>GCA446208785APCc.5370A>G (p.Pro1790=)
c.*5322A>G (n.*5322A>G)
c.5262A>G (p.Pro1754=)
c.5316A>G (p.Pro1772=)
c.*4638A>G (n.*4638A>G)
c.230+11938A>G
c.5346A>G (p.Pro1782=)
c.5241A>G (p.Pro1747=)
c.5232A>G (p.Pro1744=)
c.5193A>G (p.Pro1731=)
c.5139A>G (p.Pro1713=)
c.5043A>G (p.Pro1681=)
c.5013A>G (p.Pro1671=)
c.4938A>G (p.Pro1646=)
c.4836A>G (p.Pro1612=)
c.4467A>G (p.Pro1489=)
 ClinVar dbSNP
5g.112840910A>TCA446208786APCc.5370A>T (p.Pro1790=)
c.*5322A>T (n.*5322A>T)
c.5262A>T (p.Pro1754=)
c.5316A>T (p.Pro1772=)
c.*4638A>T (n.*4638A>T)
c.230+11938A>T
c.5346A>T (p.Pro1782=)
c.5241A>T (p.Pro1747=)
c.5232A>T (p.Pro1744=)
c.5193A>T (p.Pro1731=)
c.5139A>T (p.Pro1713=)
c.5043A>T (p.Pro1681=)
c.5013A>T (p.Pro1671=)
c.4938A>T (p.Pro1646=)
c.4836A>T (p.Pro1612=)
c.4467A>T (p.Pro1489=)
 dbSNP
5g.112840911A=CA1573475568APCc.5371A= (p.Thr1791=)
c.*5323A= (n.*5323A=)
c.5263A= (p.Thr1755=)
c.5317A= (p.Thr1773=)
c.*4639A= (n.*4639A=)
c.230+11939A=
c.5347A= (p.Thr1783=)
c.5242A= (p.Thr1748=)
c.5233A= (p.Thr1745=)
c.5194A= (p.Thr1732=)
c.5140A= (p.Thr1714=)
c.5044A= (p.Thr1682=)
c.5014A= (p.Thr1672=)
c.4939A= (p.Thr1647=)
c.4837A= (p.Thr1613=)
c.4468A= (p.Thr1490=)
5g.112840911A>CCA16032957APCc.5371A>C (p.Thr1791Pro)
c.*5323A>C (n.*5323A>C)
c.5263A>C (p.Thr1755Pro)
c.5317A>C (p.Thr1773Pro)
c.*4639A>C (n.*4639A>C)
c.230+11939A>C
c.5347A>C (p.Thr1783Pro)
c.5242A>C (p.Thr1748Pro)
c.5233A>C (p.Thr1745Pro)
c.5194A>C (p.Thr1732Pro)
c.5140A>C (p.Thr1714Pro)
c.5044A>C (p.Thr1682Pro)
c.5014A>C (p.Thr1672Pro)
c.4939A>C (p.Thr1647Pro)
c.4837A>C (p.Thr1613Pro)
c.4468A>C (p.Thr1490Pro)
 ClinVar dbSNP
5g.112840911A>GCA16032958APCc.5371A>G (p.Thr1791Ala)
c.*5323A>G (n.*5323A>G)
c.5263A>G (p.Thr1755Ala)
c.5317A>G (p.Thr1773Ala)
c.*4639A>G (n.*4639A>G)
c.230+11939A>G
c.5347A>G (p.Thr1783Ala)
c.5242A>G (p.Thr1748Ala)
c.5233A>G (p.Thr1745Ala)
c.5194A>G (p.Thr1732Ala)
c.5140A>G (p.Thr1714Ala)
c.5044A>G (p.Thr1682Ala)
c.5014A>G (p.Thr1672Ala)
c.4939A>G (p.Thr1647Ala)
c.4837A>G (p.Thr1613Ala)
c.4468A>G (p.Thr1490Ala)
 ClinVar dbSNP gnomAD v4
5g.112840911A>TCA16032959APCc.5371A>T (p.Thr1791Ser)
c.*5323A>T (n.*5323A>T)
c.5263A>T (p.Thr1755Ser)
c.5317A>T (p.Thr1773Ser)
c.*4639A>T (n.*4639A>T)
c.230+11939A>T
c.5347A>T (p.Thr1783Ser)
c.5242A>T (p.Thr1748Ser)
c.5233A>T (p.Thr1745Ser)
c.5194A>T (p.Thr1732Ser)
c.5140A>T (p.Thr1714Ser)
c.5044A>T (p.Thr1682Ser)
c.5014A>T (p.Thr1672Ser)
c.4939A>T (p.Thr1647Ser)
c.4837A>T (p.Thr1613Ser)
c.4468A>T (p.Thr1490Ser)
 dbSNP
5g.112840912C>ACA16032960APCc.5372C>A (p.Thr1791Asn)
c.*5324C>A (n.*5324C>A)
c.5264C>A (p.Thr1755Asn)
c.5318C>A (p.Thr1773Asn)
c.*4640C>A (n.*4640C>A)
c.230+11940C>A
c.5348C>A (p.Thr1783Asn)
c.5243C>A (p.Thr1748Asn)
c.5234C>A (p.Thr1745Asn)
c.5195C>A (p.Thr1732Asn)
c.5141C>A (p.Thr1714Asn)
c.5045C>A (p.Thr1682Asn)
c.5015C>A (p.Thr1672Asn)
c.4940C>A (p.Thr1647Asn)
c.4838C>A (p.Thr1613Asn)
c.4469C>A (p.Thr1490Asn)
 dbSNP
5g.112840912C=CA1573475577APCc.5372C= (p.Thr1791=)
c.*5324C= (n.*5324C=)
c.5264C= (p.Thr1755=)
c.5318C= (p.Thr1773=)
c.*4640C= (n.*4640C=)
c.230+11940C=
c.5348C= (p.Thr1783=)
c.5243C= (p.Thr1748=)
c.5234C= (p.Thr1745=)
c.5195C= (p.Thr1732=)
c.5141C= (p.Thr1714=)
c.5045C= (p.Thr1682=)
c.5015C= (p.Thr1672=)
c.4940C= (p.Thr1647=)
c.4838C= (p.Thr1613=)
c.4469C= (p.Thr1490=)
5g.112840912C>GCA16032961APCc.5372C>G (p.Thr1791Ser)
c.*5324C>G (n.*5324C>G)
c.5264C>G (p.Thr1755Ser)
c.5318C>G (p.Thr1773Ser)
c.*4640C>G (n.*4640C>G)
c.230+11940C>G
c.5348C>G (p.Thr1783Ser)
c.5243C>G (p.Thr1748Ser)
c.5234C>G (p.Thr1745Ser)
c.5195C>G (p.Thr1732Ser)
c.5141C>G (p.Thr1714Ser)
c.5045C>G (p.Thr1682Ser)
c.5015C>G (p.Thr1672Ser)
c.4940C>G (p.Thr1647Ser)
c.4838C>G (p.Thr1613Ser)
c.4469C>G (p.Thr1490Ser)
 ClinVar dbSNP
5g.112840912C>TCA16032962APCc.5372C>T (p.Thr1791Ile)
c.*5324C>T (n.*5324C>T)
c.5264C>T (p.Thr1755Ile)
c.5318C>T (p.Thr1773Ile)
c.*4640C>T (n.*4640C>T)
c.230+11940C>T
c.5348C>T (p.Thr1783Ile)
c.5243C>T (p.Thr1748Ile)
c.5234C>T (p.Thr1745Ile)
c.5195C>T (p.Thr1732Ile)
c.5141C>T (p.Thr1714Ile)
c.5045C>T (p.Thr1682Ile)
c.5015C>T (p.Thr1672Ile)
c.4940C>T (p.Thr1647Ile)
c.4838C>T (p.Thr1613Ile)
c.4469C>T (p.Thr1490Ile)
 ClinVar dbSNP
5g.112840912_112840913delCA2767942137APCc.5372_5373del (p.Thr1791IlefsTer11)
c.*5324_*5325del (n.*5324_*5325del)
c.5264_5265del (p.Thr1755IlefsTer11)
c.5318_5319del (p.Thr1773IlefsTer11)
c.*4640_*4641del (n.*4640_*4641del)
c.230+11940_230+11941del
c.5348_5349del (p.Thr1783IlefsTer11)
c.5243_5244del (p.Thr1748IlefsTer11)
c.5234_5235del (p.Thr1745IlefsTer11)
c.5195_5196del (p.Thr1732IlefsTer11)
c.5141_5142del (p.Thr1714IlefsTer11)
c.5045_5046del (p.Thr1682IlefsTer11)
c.5015_5016del (p.Thr1672IlefsTer11)
c.4940_4941del (p.Thr1647IlefsTer11)
c.4838_4839del (p.Thr1613IlefsTer11)
c.4469_4470del (p.Thr1490IlefsTer11)
5g.112840913T>ACA446208787APCc.5373T>A (p.Thr1791=)
c.*5325T>A (n.*5325T>A)
c.5265T>A (p.Thr1755=)
c.5319T>A (p.Thr1773=)
c.*4641T>A (n.*4641T>A)
c.230+11941T>A
c.5349T>A (p.Thr1783=)
c.5244T>A (p.Thr1748=)
c.5235T>A (p.Thr1745=)
c.5196T>A (p.Thr1732=)
c.5142T>A (p.Thr1714=)
c.5046T>A (p.Thr1682=)
c.5016T>A (p.Thr1672=)
c.4941T>A (p.Thr1647=)
c.4839T>A (p.Thr1613=)
c.4470T>A (p.Thr1490=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840913T>CCA041387APCc.5373T>C (p.Thr1791=)
c.*5325T>C (n.*5325T>C)
c.5265T>C (p.Thr1755=)
c.5319T>C (p.Thr1773=)
c.*4641T>C (n.*4641T>C)
c.230+11941T>C
c.5349T>C (p.Thr1783=)
c.5244T>C (p.Thr1748=)
c.5235T>C (p.Thr1745=)
c.5196T>C (p.Thr1732=)
c.5142T>C (p.Thr1714=)
c.5046T>C (p.Thr1682=)
c.5016T>C (p.Thr1672=)
c.4941T>C (p.Thr1647=)
c.4839T>C (p.Thr1613=)
c.4470T>C (p.Thr1490=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840913T>GCA446208788APCc.5373T>G (p.Thr1791=)
c.*5325T>G (n.*5325T>G)
c.5265T>G (p.Thr1755=)
c.5319T>G (p.Thr1773=)
c.*4641T>G (n.*4641T>G)
c.230+11941T>G
c.5349T>G (p.Thr1783=)
c.5244T>G (p.Thr1748=)
c.5235T>G (p.Thr1745=)
c.5196T>G (p.Thr1732=)
c.5142T>G (p.Thr1714=)
c.5046T>G (p.Thr1682=)
c.5016T>G (p.Thr1672=)
c.4941T>G (p.Thr1647=)
c.4839T>G (p.Thr1613=)
c.4470T>G (p.Thr1490=)
5g.112840913T=CA1573475590APCc.5373T= (p.Thr1791=)
c.*5325T= (n.*5325T=)
c.5265T= (p.Thr1755=)
c.5319T= (p.Thr1773=)
c.*4641T= (n.*4641T=)
c.230+11941T=
c.5349T= (p.Thr1783=)
c.5244T= (p.Thr1748=)
c.5235T= (p.Thr1745=)
c.5196T= (p.Thr1732=)
c.5142T= (p.Thr1714=)
c.5046T= (p.Thr1682=)
c.5016T= (p.Thr1672=)
c.4941T= (p.Thr1647=)
c.4839T= (p.Thr1613=)
c.4470T= (p.Thr1490=)
5g.112840914T>ACA16032963APCc.5374T>A (p.Ser1792Thr)
c.*5326T>A (n.*5326T>A)
c.5266T>A (p.Ser1756Thr)
c.5320T>A (p.Ser1774Thr)
c.*4642T>A (n.*4642T>A)
c.230+11942T>A
c.5350T>A (p.Ser1784Thr)
c.5245T>A (p.Ser1749Thr)
c.5236T>A (p.Ser1746Thr)
c.5197T>A (p.Ser1733Thr)
c.5143T>A (p.Ser1715Thr)
c.5047T>A (p.Ser1683Thr)
c.5017T>A (p.Ser1673Thr)
c.4942T>A (p.Ser1648Thr)
c.4840T>A (p.Ser1614Thr)
c.4471T>A (p.Ser1491Thr)
5g.112840914T>CCA16032964APCc.5374T>C (p.Ser1792Pro)
c.*5326T>C (n.*5326T>C)
c.5266T>C (p.Ser1756Pro)
c.5320T>C (p.Ser1774Pro)
c.*4642T>C (n.*4642T>C)
c.230+11942T>C
c.5350T>C (p.Ser1784Pro)
c.5245T>C (p.Ser1749Pro)
c.5236T>C (p.Ser1746Pro)
c.5197T>C (p.Ser1733Pro)
c.5143T>C (p.Ser1715Pro)
c.5047T>C (p.Ser1683Pro)
c.5017T>C (p.Ser1673Pro)
c.4942T>C (p.Ser1648Pro)
c.4840T>C (p.Ser1614Pro)
c.4471T>C (p.Ser1491Pro)
 ClinVar dbSNP
5g.112840914T>GCA16032965APCc.5374T>G (p.Ser1792Ala)
c.*5326T>G (n.*5326T>G)
c.5266T>G (p.Ser1756Ala)
c.5320T>G (p.Ser1774Ala)
c.*4642T>G (n.*4642T>G)
c.230+11942T>G
c.5350T>G (p.Ser1784Ala)
c.5245T>G (p.Ser1749Ala)
c.5236T>G (p.Ser1746Ala)
c.5197T>G (p.Ser1733Ala)
c.5143T>G (p.Ser1715Ala)
c.5047T>G (p.Ser1683Ala)
c.5017T>G (p.Ser1673Ala)
c.4942T>G (p.Ser1648Ala)
c.4840T>G (p.Ser1614Ala)
c.4471T>G (p.Ser1491Ala)
5g.112840914T=CA1573475596APCc.5374T= (p.Ser1792=)
c.*5326T= (n.*5326T=)
c.5266T= (p.Ser1756=)
c.5320T= (p.Ser1774=)
c.*4642T= (n.*4642T=)
c.230+11942T=
c.5350T= (p.Ser1784=)
c.5245T= (p.Ser1749=)
c.5236T= (p.Ser1746=)
c.5197T= (p.Ser1733=)
c.5143T= (p.Ser1715=)
c.5047T= (p.Ser1683=)
c.5017T= (p.Ser1673=)
c.4942T= (p.Ser1648=)
c.4840T= (p.Ser1614=)
c.4471T= (p.Ser1491=)
5g.112840915C>ACA16032966APCc.5375C>A (p.Ser1792Ter)
c.*5327C>A (n.*5327C>A)
c.5267C>A (p.Ser1756Ter)
c.5321C>A (p.Ser1774Ter)
c.*4643C>A (n.*4643C>A)
c.230+11943C>A
c.5351C>A (p.Ser1784Ter)
c.5246C>A (p.Ser1749Ter)
c.5237C>A (p.Ser1746Ter)
c.5198C>A (p.Ser1733Ter)
c.5144C>A (p.Ser1715Ter)
c.5048C>A (p.Ser1683Ter)
c.5018C>A (p.Ser1673Ter)
c.4943C>A (p.Ser1648Ter)
c.4841C>A (p.Ser1614Ter)
c.4472C>A (p.Ser1491Ter)
 dbSNP
5g.112840915C>GCA16032967APCc.5375C>G (p.Ser1792Ter)
c.*5327C>G (n.*5327C>G)
c.5267C>G (p.Ser1756Ter)
c.5321C>G (p.Ser1774Ter)
c.*4643C>G (n.*4643C>G)
c.230+11943C>G
c.5351C>G (p.Ser1784Ter)
c.5246C>G (p.Ser1749Ter)
c.5237C>G (p.Ser1746Ter)
c.5198C>G (p.Ser1733Ter)
c.5144C>G (p.Ser1715Ter)
c.5048C>G (p.Ser1683Ter)
c.5018C>G (p.Ser1673Ter)
c.4943C>G (p.Ser1648Ter)
c.4841C>G (p.Ser1614Ter)
c.4472C>G (p.Ser1491Ter)
 dbSNP
5g.112840915C>TCA16032968APCc.5375C>T (p.Ser1792Leu)
c.*5327C>T (n.*5327C>T)
c.5267C>T (p.Ser1756Leu)
c.5321C>T (p.Ser1774Leu)
c.*4643C>T (n.*4643C>T)
c.230+11943C>T
c.5351C>T (p.Ser1784Leu)
c.5246C>T (p.Ser1749Leu)
c.5237C>T (p.Ser1746Leu)
c.5198C>T (p.Ser1733Leu)
c.5144C>T (p.Ser1715Leu)
c.5048C>T (p.Ser1683Leu)
c.5018C>T (p.Ser1673Leu)
c.4943C>T (p.Ser1648Leu)
c.4841C>T (p.Ser1614Leu)
c.4472C>T (p.Ser1491Leu)
 dbSNP
5g.112840916A>CCA446208789APCc.5376A>C (p.Ser1792=)
c.*5328A>C (n.*5328A>C)
c.5268A>C (p.Ser1756=)
c.5322A>C (p.Ser1774=)
c.*4644A>C (n.*4644A>C)
c.230+11944A>C
c.5352A>C (p.Ser1784=)
c.5247A>C (p.Ser1749=)
c.5238A>C (p.Ser1746=)
c.5199A>C (p.Ser1733=)
c.5145A>C (p.Ser1715=)
c.5049A>C (p.Ser1683=)
c.5019A>C (p.Ser1673=)
c.4944A>C (p.Ser1648=)
c.4842A>C (p.Ser1614=)
c.4473A>C (p.Ser1491=)
5g.112840916A>GCA446208790APCc.5376A>G (p.Ser1792=)
c.*5328A>G (n.*5328A>G)
c.5268A>G (p.Ser1756=)
c.5322A>G (p.Ser1774=)
c.*4644A>G (n.*4644A>G)
c.230+11944A>G
c.5352A>G (p.Ser1784=)
c.5247A>G (p.Ser1749=)
c.5238A>G (p.Ser1746=)
c.5199A>G (p.Ser1733=)
c.5145A>G (p.Ser1715=)
c.5049A>G (p.Ser1683=)
c.5019A>G (p.Ser1673=)
c.4944A>G (p.Ser1648=)
c.4842A>G (p.Ser1614=)
c.4473A>G (p.Ser1491=)
5g.112840916A>TCA446208791APCc.5376A>T (p.Ser1792=)
c.*5328A>T (n.*5328A>T)
c.5268A>T (p.Ser1756=)
c.5322A>T (p.Ser1774=)
c.*4644A>T (n.*4644A>T)
c.230+11944A>T
c.5352A>T (p.Ser1784=)
c.5247A>T (p.Ser1749=)
c.5238A>T (p.Ser1746=)
c.5199A>T (p.Ser1733=)
c.5145A>T (p.Ser1715=)
c.5049A>T (p.Ser1683=)
c.5019A>T (p.Ser1673=)
c.4944A>T (p.Ser1648=)
c.4842A>T (p.Ser1614=)
c.4473A>T (p.Ser1491=)
 dbSNP
5g.112840917C>ACA16032969APCc.5377C>A (p.Pro1793Thr)
c.*5329C>A (n.*5329C>A)
c.5269C>A (p.Pro1757Thr)
c.5323C>A (p.Pro1775Thr)
c.*4645C>A (n.*4645C>A)
c.230+11945C>A
c.5353C>A (p.Pro1785Thr)
c.5248C>A (p.Pro1750Thr)
c.5239C>A (p.Pro1747Thr)
c.5200C>A (p.Pro1734Thr)
c.5146C>A (p.Pro1716Thr)
c.5050C>A (p.Pro1684Thr)
c.5020C>A (p.Pro1674Thr)
c.4945C>A (p.Pro1649Thr)
c.4843C>A (p.Pro1615Thr)
c.4474C>A (p.Pro1492Thr)
 dbSNP
5g.112840917C=CA1573475600APCc.5377C= (p.Pro1793=)
c.*5329C= (n.*5329C=)
c.5269C= (p.Pro1757=)
c.5323C= (p.Pro1775=)
c.*4645C= (n.*4645C=)
c.230+11945C=
c.5353C= (p.Pro1785=)
c.5248C= (p.Pro1750=)
c.5239C= (p.Pro1747=)
c.5200C= (p.Pro1734=)
c.5146C= (p.Pro1716=)
c.5050C= (p.Pro1684=)
c.5020C= (p.Pro1674=)
c.4945C= (p.Pro1649=)
c.4843C= (p.Pro1615=)
c.4474C= (p.Pro1492=)
5g.112840917C>GCA041530APCc.5377C>G (p.Pro1793Ala)
c.*5329C>G (n.*5329C>G)
c.5269C>G (p.Pro1757Ala)
c.5323C>G (p.Pro1775Ala)
c.*4645C>G (n.*4645C>G)
c.230+11945C>G
c.5353C>G (p.Pro1785Ala)
c.5248C>G (p.Pro1750Ala)
c.5239C>G (p.Pro1747Ala)
c.5200C>G (p.Pro1734Ala)
c.5146C>G (p.Pro1716Ala)
c.5050C>G (p.Pro1684Ala)
c.5020C>G (p.Pro1674Ala)
c.4945C>G (p.Pro1649Ala)
c.4843C>G (p.Pro1615Ala)
c.4474C>G (p.Pro1492Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840917C>TCA16032970APCc.5377C>T (p.Pro1793Ser)
c.*5329C>T (n.*5329C>T)
c.5269C>T (p.Pro1757Ser)
c.5323C>T (p.Pro1775Ser)
c.*4645C>T (n.*4645C>T)
c.230+11945C>T
c.5353C>T (p.Pro1785Ser)
c.5248C>T (p.Pro1750Ser)
c.5239C>T (p.Pro1747Ser)
c.5200C>T (p.Pro1734Ser)
c.5146C>T (p.Pro1716Ser)
c.5050C>T (p.Pro1684Ser)
c.5020C>T (p.Pro1674Ser)
c.4945C>T (p.Pro1649Ser)
c.4843C>T (p.Pro1615Ser)
c.4474C>T (p.Pro1492Ser)
 ClinVar dbSNP gnomAD v4
5g.112840917_112840918insACCCAACACA2767942143APCc.5377_5378insACCCAACA (p.Pro1793HisfsTer5)
c.*5329_*5330insACCCAACA (n.*5329_*5330insACCCAACA)
c.5269_5270insACCCAACA (p.Pro1757HisfsTer5)
c.5323_5324insACCCAACA (p.Pro1775HisfsTer5)
c.*4645_*4646insACCCAACA (n.*4645_*4646insACCCAACA)
c.230+11945_230+11946insACCCAACA
c.5353_5354insACCCAACA (p.Pro1785HisfsTer5)
c.5248_5249insACCCAACA (p.Pro1750HisfsTer5)
c.5239_5240insACCCAACA (p.Pro1747HisfsTer5)
c.5200_5201insACCCAACA (p.Pro1734HisfsTer5)
c.5146_5147insACCCAACA (p.Pro1716HisfsTer5)
c.5050_5051insACCCAACA (p.Pro1684HisfsTer5)
c.5020_5021insACCCAACA (p.Pro1674HisfsTer5)
c.4945_4946insACCCAACA (p.Pro1649HisfsTer5)
c.4843_4844insACCCAACA (p.Pro1615HisfsTer5)
c.4474_4475insACCCAACA (p.Pro1492HisfsTer5)
5g.112840918C>ACA16032971APCc.5378C>A (p.Pro1793Gln)
c.*5330C>A (n.*5330C>A)
c.5270C>A (p.Pro1757Gln)
c.5324C>A (p.Pro1775Gln)
c.*4646C>A (n.*4646C>A)
c.230+11946C>A
c.5354C>A (p.Pro1785Gln)
c.5249C>A (p.Pro1750Gln)
c.5240C>A (p.Pro1747Gln)
c.5201C>A (p.Pro1734Gln)
c.5147C>A (p.Pro1716Gln)
c.5051C>A (p.Pro1684Gln)
c.5021C>A (p.Pro1674Gln)
c.4946C>A (p.Pro1649Gln)
c.4844C>A (p.Pro1615Gln)
c.4475C>A (p.Pro1492Gln)
 dbSNP
5g.112840918C>GCA16032972APCc.5378C>G (p.Pro1793Arg)
c.*5330C>G (n.*5330C>G)
c.5270C>G (p.Pro1757Arg)
c.5324C>G (p.Pro1775Arg)
c.*4646C>G (n.*4646C>G)
c.230+11946C>G
c.5354C>G (p.Pro1785Arg)
c.5249C>G (p.Pro1750Arg)
c.5240C>G (p.Pro1747Arg)
c.5201C>G (p.Pro1734Arg)
c.5147C>G (p.Pro1716Arg)
c.5051C>G (p.Pro1684Arg)
c.5021C>G (p.Pro1674Arg)
c.4946C>G (p.Pro1649Arg)
c.4844C>G (p.Pro1615Arg)
c.4475C>G (p.Pro1492Arg)
 dbSNP
5g.112840918C>TCA16032973APCc.5378C>T (p.Pro1793Leu)
c.*5330C>T (n.*5330C>T)
c.5270C>T (p.Pro1757Leu)
c.5324C>T (p.Pro1775Leu)
c.*4646C>T (n.*4646C>T)
c.230+11946C>T
c.5354C>T (p.Pro1785Leu)
c.5249C>T (p.Pro1750Leu)
c.5240C>T (p.Pro1747Leu)
c.5201C>T (p.Pro1734Leu)
c.5147C>T (p.Pro1716Leu)
c.5051C>T (p.Pro1684Leu)
c.5021C>T (p.Pro1674Leu)
c.4946C>T (p.Pro1649Leu)
c.4844C>T (p.Pro1615Leu)
c.4475C>T (p.Pro1492Leu)
 ClinVar dbSNP
5g.112840919A>CCA446208793APCc.5379A>C (p.Pro1793=)
c.*5331A>C (n.*5331A>C)
c.5271A>C (p.Pro1757=)
c.5325A>C (p.Pro1775=)
c.*4647A>C (n.*4647A>C)
c.230+11947A>C
c.5355A>C (p.Pro1785=)
c.5250A>C (p.Pro1750=)
c.5241A>C (p.Pro1747=)
c.5202A>C (p.Pro1734=)
c.5148A>C (p.Pro1716=)
c.5052A>C (p.Pro1684=)
c.5022A>C (p.Pro1674=)
c.4947A>C (p.Pro1649=)
c.4845A>C (p.Pro1615=)
c.4476A>C (p.Pro1492=)
 ClinVar
5g.112840919A>GCA446208794APCc.5379A>G (p.Pro1793=)
c.*5331A>G (n.*5331A>G)
c.5271A>G (p.Pro1757=)
c.5325A>G (p.Pro1775=)
c.*4647A>G (n.*4647A>G)
c.230+11947A>G
c.5355A>G (p.Pro1785=)
c.5250A>G (p.Pro1750=)
c.5241A>G (p.Pro1747=)
c.5202A>G (p.Pro1734=)
c.5148A>G (p.Pro1716=)
c.5052A>G (p.Pro1684=)
c.5022A>G (p.Pro1674=)
c.4947A>G (p.Pro1649=)
c.4845A>G (p.Pro1615=)
c.4476A>G (p.Pro1492=)
 gnomAD v4
5g.112840919A>TCA446208792APCc.5379A>T (p.Pro1793=)
c.*5331A>T (n.*5331A>T)
c.5271A>T (p.Pro1757=)
c.5325A>T (p.Pro1775=)
c.*4647A>T (n.*4647A>T)
c.230+11947A>T
c.5355A>T (p.Pro1785=)
c.5250A>T (p.Pro1750=)
c.5241A>T (p.Pro1747=)
c.5202A>T (p.Pro1734=)
c.5148A>T (p.Pro1716=)
c.5052A>T (p.Pro1684=)
c.5022A>T (p.Pro1674=)
c.4947A>T (p.Pro1649=)
c.4845A>T (p.Pro1615=)
c.4476A>T (p.Pro1492=)
 dbSNP
5g.112840920_112840922delCA2767942145APCc.5380_5382del (p.Val1794del)
c.*5332_*5334del (n.*5332_*5334del)
c.5272_5274del (p.Val1758del)
c.5326_5328del (p.Val1776del)
c.*4648_*4650del (n.*4648_*4650del)
c.230+11948_230+11950del
c.5356_5358del (p.Val1786del)
c.5251_5253del (p.Val1751del)
c.5242_5244del (p.Val1748del)
c.5203_5205del (p.Val1735del)
c.5149_5151del (p.Val1717del)
c.5053_5055del (p.Val1685del)
c.5023_5025del (p.Val1675del)
c.4948_4950del (p.Val1650del)
c.4846_4848del (p.Val1616del)
c.4477_4479del (p.Val1493del)
5g.112840920G>ACA041569APCc.5380G>A (p.Val1794Ile)
c.*5332G>A (n.*5332G>A)
c.5272G>A (p.Val1758Ile)
c.5326G>A (p.Val1776Ile)
c.*4648G>A (n.*4648G>A)
c.230+11948G>A
c.5356G>A (p.Val1786Ile)
c.5251G>A (p.Val1751Ile)
c.5242G>A (p.Val1748Ile)
c.5203G>A (p.Val1735Ile)
c.5149G>A (p.Val1717Ile)
c.5053G>A (p.Val1685Ile)
c.5023G>A (p.Val1675Ile)
c.4948G>A (p.Val1650Ile)
c.4846G>A (p.Val1616Ile)
c.4477G>A (p.Val1493Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112840920G>CCA16032974APCc.5380G>C (p.Val1794Leu)
c.*5332G>C (n.*5332G>C)
c.5272G>C (p.Val1758Leu)
c.5326G>C (p.Val1776Leu)
c.*4648G>C (n.*4648G>C)
c.230+11948G>C
c.5356G>C (p.Val1786Leu)
c.5251G>C (p.Val1751Leu)
c.5242G>C (p.Val1748Leu)
c.5203G>C (p.Val1735Leu)
c.5149G>C (p.Val1717Leu)
c.5053G>C (p.Val1685Leu)
c.5023G>C (p.Val1675Leu)
c.4948G>C (p.Val1650Leu)
c.4846G>C (p.Val1616Leu)
c.4477G>C (p.Val1493Leu)
 ClinVar dbSNP gnomAD v4
5g.112840920G=CA1573475605APCc.5380G= (p.Val1794=)
c.*5332G= (n.*5332G=)
c.5272G= (p.Val1758=)
c.5326G= (p.Val1776=)
c.*4648G= (n.*4648G=)
c.230+11948G=
c.5356G= (p.Val1786=)
c.5251G= (p.Val1751=)
c.5242G= (p.Val1748=)
c.5203G= (p.Val1735=)
c.5149G= (p.Val1717=)
c.5053G= (p.Val1685=)
c.5023G= (p.Val1675=)
c.4948G= (p.Val1650=)
c.4846G= (p.Val1616=)
c.4477G= (p.Val1493=)
5g.112840920G>TCA16032975APCc.5380G>T (p.Val1794Leu)
c.*5332G>T (n.*5332G>T)
c.5272G>T (p.Val1758Leu)
c.5326G>T (p.Val1776Leu)
c.*4648G>T (n.*4648G>T)
c.230+11948G>T
c.5356G>T (p.Val1786Leu)
c.5251G>T (p.Val1751Leu)
c.5242G>T (p.Val1748Leu)
c.5203G>T (p.Val1735Leu)
c.5149G>T (p.Val1717Leu)
c.5053G>T (p.Val1685Leu)
c.5023G>T (p.Val1675Leu)
c.4948G>T (p.Val1650Leu)
c.4846G>T (p.Val1616Leu)
c.4477G>T (p.Val1493Leu)
5g.112840921T>ACA16032976APCc.5381T>A (p.Val1794Glu)
c.*5333T>A (n.*5333T>A)
c.5273T>A (p.Val1758Glu)
c.5327T>A (p.Val1776Glu)
c.*4649T>A (n.*4649T>A)
c.230+11949T>A
c.5357T>A (p.Val1786Glu)
c.5252T>A (p.Val1751Glu)
c.5243T>A (p.Val1748Glu)
c.5204T>A (p.Val1735Glu)
c.5150T>A (p.Val1717Glu)
c.5054T>A (p.Val1685Glu)
c.5024T>A (p.Val1675Glu)
c.4949T>A (p.Val1650Glu)
c.4847T>A (p.Val1616Glu)
c.4478T>A (p.Val1493Glu)
5g.112840921T>CCA16032977APCc.5381T>C (p.Val1794Ala)
c.*5333T>C (n.*5333T>C)
c.5273T>C (p.Val1758Ala)
c.5327T>C (p.Val1776Ala)
c.*4649T>C (n.*4649T>C)
c.230+11949T>C
c.5357T>C (p.Val1786Ala)
c.5252T>C (p.Val1751Ala)
c.5243T>C (p.Val1748Ala)
c.5204T>C (p.Val1735Ala)
c.5150T>C (p.Val1717Ala)
c.5054T>C (p.Val1685Ala)
c.5024T>C (p.Val1675Ala)
c.4949T>C (p.Val1650Ala)
c.4847T>C (p.Val1616Ala)
c.4478T>C (p.Val1493Ala)
5g.112840921T>GCA16032978APCc.5381T>G (p.Val1794Gly)
c.*5333T>G (n.*5333T>G)
c.5273T>G (p.Val1758Gly)
c.5327T>G (p.Val1776Gly)
c.*4649T>G (n.*4649T>G)
c.230+11949T>G
c.5357T>G (p.Val1786Gly)
c.5252T>G (p.Val1751Gly)
c.5243T>G (p.Val1748Gly)
c.5204T>G (p.Val1735Gly)
c.5150T>G (p.Val1717Gly)
c.5054T>G (p.Val1685Gly)
c.5024T>G (p.Val1675Gly)
c.4949T>G (p.Val1650Gly)
c.4847T>G (p.Val1616Gly)
c.4478T>G (p.Val1493Gly)
5g.112840922A>CCA446208797APCc.5382A>C (p.Val1794=)
c.*5334A>C (n.*5334A>C)
c.5274A>C (p.Val1758=)
c.5328A>C (p.Val1776=)
c.*4650A>C (n.*4650A>C)
c.230+11950A>C
c.5358A>C (p.Val1786=)
c.5253A>C (p.Val1751=)
c.5244A>C (p.Val1748=)
c.5205A>C (p.Val1735=)
c.5151A>C (p.Val1717=)
c.5055A>C (p.Val1685=)
c.5025A>C (p.Val1675=)
c.4950A>C (p.Val1650=)
c.4848A>C (p.Val1616=)
c.4479A>C (p.Val1493=)
5g.112840922A>GCA446208796APCc.5382A>G (p.Val1794=)
c.*5334A>G (n.*5334A>G)
c.5274A>G (p.Val1758=)
c.5328A>G (p.Val1776=)
c.*4650A>G (n.*4650A>G)
c.230+11950A>G
c.5358A>G (p.Val1786=)
c.5253A>G (p.Val1751=)
c.5244A>G (p.Val1748=)
c.5205A>G (p.Val1735=)
c.5151A>G (p.Val1717=)
c.5055A>G (p.Val1685=)
c.5025A>G (p.Val1675=)
c.4950A>G (p.Val1650=)
c.4848A>G (p.Val1616=)
c.4479A>G (p.Val1493=)
 ClinVar dbSNP COSMIC
5g.112840922A>TCA446208795APCc.5382A>T (p.Val1794=)
c.*5334A>T (n.*5334A>T)
c.5274A>T (p.Val1758=)
c.5328A>T (p.Val1776=)
c.*4650A>T (n.*4650A>T)
c.230+11950A>T
c.5358A>T (p.Val1786=)
c.5253A>T (p.Val1751=)
c.5244A>T (p.Val1748=)
c.5205A>T (p.Val1735=)
c.5151A>T (p.Val1717=)
c.5055A>T (p.Val1685=)
c.5025A>T (p.Val1675=)
c.4950A>T (p.Val1650=)
c.4848A>T (p.Val1616=)
c.4479A>T (p.Val1493=)
 dbSNP
5g.112840925delCA2582341431APCc.5385del (p.Lys1795AsnfsTer13)
c.*5337del (n.*5337del)
c.5277del (p.Lys1759AsnfsTer13)
c.5331del (p.Lys1777AsnfsTer13)
c.*4653del (n.*4653del)
c.230+11953del
c.5361del (p.Lys1787AsnfsTer13)
c.5256del (p.Lys1752AsnfsTer13)
c.5247del (p.Lys1749AsnfsTer13)
c.5208del (p.Lys1736AsnfsTer13)
c.5154del (p.Lys1718AsnfsTer13)
c.5058del (p.Lys1686AsnfsTer13)
c.5028del (p.Lys1676AsnfsTer13)
c.4953del (p.Lys1651AsnfsTer13)
c.4851del (p.Lys1617AsnfsTer13)
c.4482del (p.Lys1494AsnfsTer13)
 ClinVar
5g.112840923A>CCA16032979APCc.5383A>C (p.Lys1795Gln)
c.*5335A>C (n.*5335A>C)
c.5275A>C (p.Lys1759Gln)
c.5329A>C (p.Lys1777Gln)
c.*4651A>C (n.*4651A>C)
c.230+11951A>C
c.5359A>C (p.Lys1787Gln)
c.5254A>C (p.Lys1752Gln)
c.5245A>C (p.Lys1749Gln)
c.5206A>C (p.Lys1736Gln)
c.5152A>C (p.Lys1718Gln)
c.5056A>C (p.Lys1686Gln)
c.5026A>C (p.Lys1676Gln)
c.4951A>C (p.Lys1651Gln)
c.4849A>C (p.Lys1617Gln)
c.4480A>C (p.Lys1494Gln)
5g.112840923A>GCA16032980APCc.5383A>G (p.Lys1795Glu)
c.*5335A>G (n.*5335A>G)
c.5275A>G (p.Lys1759Glu)
c.5329A>G (p.Lys1777Glu)
c.*4651A>G (n.*4651A>G)
c.230+11951A>G
c.5359A>G (p.Lys1787Glu)
c.5254A>G (p.Lys1752Glu)
c.5245A>G (p.Lys1749Glu)
c.5206A>G (p.Lys1736Glu)
c.5152A>G (p.Lys1718Glu)
c.5056A>G (p.Lys1686Glu)
c.5026A>G (p.Lys1676Glu)
c.4951A>G (p.Lys1651Glu)
c.4849A>G (p.Lys1617Glu)
c.4480A>G (p.Lys1494Glu)
 dbSNP
5g.112840923A>TCA16032981APCc.5383A>T (p.Lys1795Ter)
c.*5335A>T (n.*5335A>T)
c.5275A>T (p.Lys1759Ter)
c.5329A>T (p.Lys1777Ter)
c.*4651A>T (n.*4651A>T)
c.230+11951A>T
c.5359A>T (p.Lys1787Ter)
c.5254A>T (p.Lys1752Ter)
c.5245A>T (p.Lys1749Ter)
c.5206A>T (p.Lys1736Ter)
c.5152A>T (p.Lys1718Ter)
c.5056A>T (p.Lys1686Ter)
c.5026A>T (p.Lys1676Ter)
c.4951A>T (p.Lys1651Ter)
c.4849A>T (p.Lys1617Ter)
c.4480A>T (p.Lys1494Ter)
5g.112840924A>CCA16032982APCc.5384A>C (p.Lys1795Thr)
c.*5336A>C (n.*5336A>C)
c.5276A>C (p.Lys1759Thr)
c.5330A>C (p.Lys1777Thr)
c.*4652A>C (n.*4652A>C)
c.230+11952A>C
c.5360A>C (p.Lys1787Thr)
c.5255A>C (p.Lys1752Thr)
c.5246A>C (p.Lys1749Thr)
c.5207A>C (p.Lys1736Thr)
c.5153A>C (p.Lys1718Thr)
c.5057A>C (p.Lys1686Thr)
c.5027A>C (p.Lys1676Thr)
c.4952A>C (p.Lys1651Thr)
c.4850A>C (p.Lys1617Thr)
c.4481A>C (p.Lys1494Thr)
5g.112840924A>GCA16032983APCc.5384A>G (p.Lys1795Arg)
c.*5336A>G (n.*5336A>G)
c.5276A>G (p.Lys1759Arg)
c.5330A>G (p.Lys1777Arg)
c.*4652A>G (n.*4652A>G)
c.230+11952A>G
c.5360A>G (p.Lys1787Arg)
c.5255A>G (p.Lys1752Arg)
c.5246A>G (p.Lys1749Arg)
c.5207A>G (p.Lys1736Arg)
c.5153A>G (p.Lys1718Arg)
c.5057A>G (p.Lys1686Arg)
c.5027A>G (p.Lys1676Arg)
c.4952A>G (p.Lys1651Arg)
c.4850A>G (p.Lys1617Arg)
c.4481A>G (p.Lys1494Arg)
 dbSNP gnomAD v4
5g.112840924A>TCA16032984APCc.5384A>T (p.Lys1795Ile)
c.*5336A>T (n.*5336A>T)
c.5276A>T (p.Lys1759Ile)
c.5330A>T (p.Lys1777Ile)
c.*4652A>T (n.*4652A>T)
c.230+11952A>T
c.5360A>T (p.Lys1787Ile)
c.5255A>T (p.Lys1752Ile)
c.5246A>T (p.Lys1749Ile)
c.5207A>T (p.Lys1736Ile)
c.5153A>T (p.Lys1718Ile)
c.5057A>T (p.Lys1686Ile)
c.5027A>T (p.Lys1676Ile)
c.4952A>T (p.Lys1651Ile)
c.4850A>T (p.Lys1617Ile)
c.4481A>T (p.Lys1494Ile)
 dbSNP
5g.112840925A=CA1573475612APCc.5385A= (p.Lys1795=)
c.*5337A= (n.*5337A=)
c.5277A= (p.Lys1759=)
c.5331A= (p.Lys1777=)
c.*4653A= (n.*4653A=)
c.230+11953A=
c.5361A= (p.Lys1787=)
c.5256A= (p.Lys1752=)
c.5247A= (p.Lys1749=)
c.5208A= (p.Lys1736=)
c.5154A= (p.Lys1718=)
c.5058A= (p.Lys1686=)
c.5028A= (p.Lys1676=)
c.4953A= (p.Lys1651=)
c.4851A= (p.Lys1617=)
c.4482A= (p.Lys1494=)
5g.112840925A>CCA16032985APCc.5385A>C (p.Lys1795Asn)
c.*5337A>C (n.*5337A>C)
c.5277A>C (p.Lys1759Asn)
c.5331A>C (p.Lys1777Asn)
c.*4653A>C (n.*4653A>C)
c.230+11953A>C
c.5361A>C (p.Lys1787Asn)
c.5256A>C (p.Lys1752Asn)
c.5247A>C (p.Lys1749Asn)
c.5208A>C (p.Lys1736Asn)
c.5154A>C (p.Lys1718Asn)
c.5058A>C (p.Lys1686Asn)
c.5028A>C (p.Lys1676Asn)
c.4953A>C (p.Lys1651Asn)
c.4851A>C (p.Lys1617Asn)
c.4482A>C (p.Lys1494Asn)
 dbSNP
5g.112840925A>GCA446208798APCc.5385A>G (p.Lys1795=)
c.*5337A>G (n.*5337A>G)
c.5277A>G (p.Lys1759=)
c.5331A>G (p.Lys1777=)
c.*4653A>G (n.*4653A>G)
c.230+11953A>G
c.5361A>G (p.Lys1787=)
c.5256A>G (p.Lys1752=)
c.5247A>G (p.Lys1749=)
c.5208A>G (p.Lys1736=)
c.5154A>G (p.Lys1718=)
c.5058A>G (p.Lys1686=)
c.5028A>G (p.Lys1676=)
c.4953A>G (p.Lys1651=)
c.4851A>G (p.Lys1617=)
c.4482A>G (p.Lys1494=)
 ClinVar dbSNP
5g.112840925A>TCA16032986APCc.5385A>T (p.Lys1795Asn)
c.*5337A>T (n.*5337A>T)
c.5277A>T (p.Lys1759Asn)
c.5331A>T (p.Lys1777Asn)
c.*4653A>T (n.*4653A>T)
c.230+11953A>T
c.5361A>T (p.Lys1787Asn)
c.5256A>T (p.Lys1752Asn)
c.5247A>T (p.Lys1749Asn)
c.5208A>T (p.Lys1736Asn)
c.5154A>T (p.Lys1718Asn)
c.5058A>T (p.Lys1686Asn)
c.5028A>T (p.Lys1676Asn)
c.4953A>T (p.Lys1651Asn)
c.4851A>T (p.Lys1617Asn)
c.4482A>T (p.Lys1494Asn)
 dbSNP
5g.112840926C>ACA16032987APCc.5386C>A (p.Pro1796Thr)
c.*5338C>A (n.*5338C>A)
c.5278C>A (p.Pro1760Thr)
c.5332C>A (p.Pro1778Thr)
c.*4654C>A (n.*4654C>A)
c.230+11954C>A
c.5362C>A (p.Pro1788Thr)
c.5257C>A (p.Pro1753Thr)
c.5248C>A (p.Pro1750Thr)
c.5209C>A (p.Pro1737Thr)
c.5155C>A (p.Pro1719Thr)
c.5059C>A (p.Pro1687Thr)
c.5029C>A (p.Pro1677Thr)
c.4954C>A (p.Pro1652Thr)
c.4852C>A (p.Pro1618Thr)
c.4483C>A (p.Pro1495Thr)
 ClinVar dbSNP
5g.112840926C=CA1573475621APCc.5386C= (p.Pro1796=)
c.*5338C= (n.*5338C=)
c.5278C= (p.Pro1760=)
c.5332C= (p.Pro1778=)
c.*4654C= (n.*4654C=)
c.230+11954C=
c.5362C= (p.Pro1788=)
c.5257C= (p.Pro1753=)
c.5248C= (p.Pro1750=)
c.5209C= (p.Pro1737=)
c.5155C= (p.Pro1719=)
c.5059C= (p.Pro1687=)
c.5029C= (p.Pro1677=)
c.4954C= (p.Pro1652=)
c.4852C= (p.Pro1618=)
c.4483C= (p.Pro1495=)
5g.112840926C>GCA16032988APCc.5386C>G (p.Pro1796Ala)
c.*5338C>G (n.*5338C>G)
c.5278C>G (p.Pro1760Ala)
c.5332C>G (p.Pro1778Ala)
c.*4654C>G (n.*4654C>G)
c.230+11954C>G
c.5362C>G (p.Pro1788Ala)
c.5257C>G (p.Pro1753Ala)
c.5248C>G (p.Pro1750Ala)
c.5209C>G (p.Pro1737Ala)
c.5155C>G (p.Pro1719Ala)
c.5059C>G (p.Pro1687Ala)
c.5029C>G (p.Pro1677Ala)
c.4954C>G (p.Pro1652Ala)
c.4852C>G (p.Pro1618Ala)
c.4483C>G (p.Pro1495Ala)
 dbSNP gnomAD v4
5g.112840926C>TCA16032989APCc.5386C>T (p.Pro1796Ser)
c.*5338C>T (n.*5338C>T)
c.5278C>T (p.Pro1760Ser)
c.5332C>T (p.Pro1778Ser)
c.*4654C>T (n.*4654C>T)
c.230+11954C>T
c.5362C>T (p.Pro1788Ser)
c.5257C>T (p.Pro1753Ser)
c.5248C>T (p.Pro1750Ser)
c.5209C>T (p.Pro1737Ser)
c.5155C>T (p.Pro1719Ser)
c.5059C>T (p.Pro1687Ser)
c.5029C>T (p.Pro1677Ser)
c.4954C>T (p.Pro1652Ser)
c.4852C>T (p.Pro1618Ser)
c.4483C>T (p.Pro1495Ser)
 ClinVar dbSNP
5g.112840927C>ACA16032990APCc.5387C>A (p.Pro1796His)
c.*5339C>A (n.*5339C>A)
c.5279C>A (p.Pro1760His)
c.5333C>A (p.Pro1778His)
c.*4655C>A (n.*4655C>A)
c.230+11955C>A
c.5363C>A (p.Pro1788His)
c.5258C>A (p.Pro1753His)
c.5249C>A (p.Pro1750His)
c.5210C>A (p.Pro1737His)
c.5156C>A (p.Pro1719His)
c.5060C>A (p.Pro1687His)
c.5030C>A (p.Pro1677His)
c.4955C>A (p.Pro1652His)
c.4853C>A (p.Pro1618His)
c.4484C>A (p.Pro1495His)
 ClinVar dbSNP gnomAD v4
5g.112840927C=CA1573475648APCc.5387C= (p.Pro1796=)
c.*5339C= (n.*5339C=)
c.5279C= (p.Pro1760=)
c.5333C= (p.Pro1778=)
c.*4655C= (n.*4655C=)
c.230+11955C=
c.5363C= (p.Pro1788=)
c.5258C= (p.Pro1753=)
c.5249C= (p.Pro1750=)
c.5210C= (p.Pro1737=)
c.5156C= (p.Pro1719=)
c.5060C= (p.Pro1687=)
c.5030C= (p.Pro1677=)
c.4955C= (p.Pro1652=)
c.4853C= (p.Pro1618=)
c.4484C= (p.Pro1495=)
5g.112840927C>GCA16032991APCc.5387C>G (p.Pro1796Arg)
c.*5339C>G (n.*5339C>G)
c.5279C>G (p.Pro1760Arg)
c.5333C>G (p.Pro1778Arg)
c.*4655C>G (n.*4655C>G)
c.230+11955C>G
c.5363C>G (p.Pro1788Arg)
c.5258C>G (p.Pro1753Arg)
c.5249C>G (p.Pro1750Arg)
c.5210C>G (p.Pro1737Arg)
c.5156C>G (p.Pro1719Arg)
c.5060C>G (p.Pro1687Arg)
c.5030C>G (p.Pro1677Arg)
c.4955C>G (p.Pro1652Arg)
c.4853C>G (p.Pro1618Arg)
c.4484C>G (p.Pro1495Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112840927C>TCA16032992APCc.5387C>T (p.Pro1796Leu)
c.*5339C>T (n.*5339C>T)
c.5279C>T (p.Pro1760Leu)
c.5333C>T (p.Pro1778Leu)
c.*4655C>T (n.*4655C>T)
c.230+11955C>T
c.5363C>T (p.Pro1788Leu)
c.5258C>T (p.Pro1753Leu)
c.5249C>T (p.Pro1750Leu)
c.5210C>T (p.Pro1737Leu)
c.5156C>T (p.Pro1719Leu)
c.5060C>T (p.Pro1687Leu)
c.5030C>T (p.Pro1677Leu)
c.4955C>T (p.Pro1652Leu)
c.4853C>T (p.Pro1618Leu)
c.4484C>T (p.Pro1495Leu)
 ClinVar dbSNP gnomAD v4
5g.112840928T>ACA446208799APCc.5388T>A (p.Pro1796=)
c.*5340T>A (n.*5340T>A)
c.5280T>A (p.Pro1760=)
c.5334T>A (p.Pro1778=)
c.*4656T>A (n.*4656T>A)
c.230+11956T>A
c.5364T>A (p.Pro1788=)
c.5259T>A (p.Pro1753=)
c.5250T>A (p.Pro1750=)
c.5211T>A (p.Pro1737=)
c.5157T>A (p.Pro1719=)
c.5061T>A (p.Pro1687=)
c.5031T>A (p.Pro1677=)
c.4956T>A (p.Pro1652=)
c.4854T>A (p.Pro1618=)
c.4485T>A (p.Pro1495=)
 dbSNP
5g.112840928T>CCA446208800APCc.5388T>C (p.Pro1796=)
c.*5340T>C (n.*5340T>C)
c.5280T>C (p.Pro1760=)
c.5334T>C (p.Pro1778=)
c.*4656T>C (n.*4656T>C)
c.230+11956T>C
c.5364T>C (p.Pro1788=)
c.5259T>C (p.Pro1753=)
c.5250T>C (p.Pro1750=)
c.5211T>C (p.Pro1737=)
c.5157T>C (p.Pro1719=)
c.5061T>C (p.Pro1687=)
c.5031T>C (p.Pro1677=)
c.4956T>C (p.Pro1652=)
c.4854T>C (p.Pro1618=)
c.4485T>C (p.Pro1495=)
 dbSNP
5g.112840928T>GCA446208801APCc.5388T>G (p.Pro1796=)
c.*5340T>G (n.*5340T>G)
c.5280T>G (p.Pro1760=)
c.5334T>G (p.Pro1778=)
c.*4656T>G (n.*4656T>G)
c.230+11956T>G
c.5364T>G (p.Pro1788=)
c.5259T>G (p.Pro1753=)
c.5250T>G (p.Pro1750=)
c.5211T>G (p.Pro1737=)
c.5157T>G (p.Pro1719=)
c.5061T>G (p.Pro1687=)
c.5031T>G (p.Pro1677=)
c.4956T>G (p.Pro1652=)
c.4854T>G (p.Pro1618=)
c.4485T>G (p.Pro1495=)
5g.112840929A=CA1573475662APCc.5389A= (p.Ile1797=)
c.*5341A= (n.*5341A=)
c.5281A= (p.Ile1761=)
c.5335A= (p.Ile1779=)
c.*4657A= (n.*4657A=)
c.230+11957A=
c.5365A= (p.Ile1789=)
c.5260A= (p.Ile1754=)
c.5251A= (p.Ile1751=)
c.5212A= (p.Ile1738=)
c.5158A= (p.Ile1720=)
c.5062A= (p.Ile1688=)
c.5032A= (p.Ile1678=)
c.4957A= (p.Ile1653=)
c.4855A= (p.Ile1619=)
c.4486A= (p.Ile1496=)
5g.112840929A>CCA16032993APCc.5389A>C (p.Ile1797Leu)
c.*5341A>C (n.*5341A>C)
c.5281A>C (p.Ile1761Leu)
c.5335A>C (p.Ile1779Leu)
c.*4657A>C (n.*4657A>C)
c.230+11957A>C
c.5365A>C (p.Ile1789Leu)
c.5260A>C (p.Ile1754Leu)
c.5251A>C (p.Ile1751Leu)
c.5212A>C (p.Ile1738Leu)
c.5158A>C (p.Ile1720Leu)
c.5062A>C (p.Ile1688Leu)
c.5032A>C (p.Ile1678Leu)
c.4957A>C (p.Ile1653Leu)
c.4855A>C (p.Ile1619Leu)
c.4486A>C (p.Ile1496Leu)
 dbSNP
5g.112840929A>GCA16032994APCc.5389A>G (p.Ile1797Val)
c.*5341A>G (n.*5341A>G)
c.5281A>G (p.Ile1761Val)
c.5335A>G (p.Ile1779Val)
c.*4657A>G (n.*4657A>G)
c.230+11957A>G
c.5365A>G (p.Ile1789Val)
c.5260A>G (p.Ile1754Val)
c.5251A>G (p.Ile1751Val)
c.5212A>G (p.Ile1738Val)
c.5158A>G (p.Ile1720Val)
c.5062A>G (p.Ile1688Val)
c.5032A>G (p.Ile1678Val)
c.4957A>G (p.Ile1653Val)
c.4855A>G (p.Ile1619Val)
c.4486A>G (p.Ile1496Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112840929A>TCA16032995APCc.5389A>T (p.Ile1797Leu)
c.*5341A>T (n.*5341A>T)
c.5281A>T (p.Ile1761Leu)
c.5335A>T (p.Ile1779Leu)
c.*4657A>T (n.*4657A>T)
c.230+11957A>T
c.5365A>T (p.Ile1789Leu)
c.5260A>T (p.Ile1754Leu)
c.5251A>T (p.Ile1751Leu)
c.5212A>T (p.Ile1738Leu)
c.5158A>T (p.Ile1720Leu)
c.5062A>T (p.Ile1688Leu)
c.5032A>T (p.Ile1678Leu)
c.4957A>T (p.Ile1653Leu)
c.4855A>T (p.Ile1619Leu)
c.4486A>T (p.Ile1496Leu)
 ClinVar dbSNP gnomAD v4
5g.112840930T>ACA16032996APCc.5390T>A (p.Ile1797Lys)
c.*5342T>A (n.*5342T>A)
c.5282T>A (p.Ile1761Lys)
c.5336T>A (p.Ile1779Lys)
c.*4658T>A (n.*4658T>A)
c.230+11958T>A
c.5366T>A (p.Ile1789Lys)
c.5261T>A (p.Ile1754Lys)
c.5252T>A (p.Ile1751Lys)
c.5213T>A (p.Ile1738Lys)
c.5159T>A (p.Ile1720Lys)
c.5063T>A (p.Ile1688Lys)
c.5033T>A (p.Ile1678Lys)
c.4958T>A (p.Ile1653Lys)
c.4856T>A (p.Ile1619Lys)
c.4487T>A (p.Ile1496Lys)
 dbSNP
5g.112840930T>CCA010328APCc.5390T>C (p.Ile1797Thr)
c.*5342T>C (n.*5342T>C)
c.5282T>C (p.Ile1761Thr)
c.5336T>C (p.Ile1779Thr)
c.*4658T>C (n.*4658T>C)
c.230+11958T>C
c.5366T>C (p.Ile1789Thr)
c.5261T>C (p.Ile1754Thr)
c.5252T>C (p.Ile1751Thr)
c.5213T>C (p.Ile1738Thr)
c.5159T>C (p.Ile1720Thr)
c.5063T>C (p.Ile1688Thr)
c.5033T>C (p.Ile1678Thr)
c.4958T>C (p.Ile1653Thr)
c.4856T>C (p.Ile1619Thr)
c.4487T>C (p.Ile1496Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112840930T>GCA16032997APCc.5390T>G (p.Ile1797Arg)
c.*5342T>G (n.*5342T>G)
c.5282T>G (p.Ile1761Arg)
c.5336T>G (p.Ile1779Arg)
c.*4658T>G (n.*4658T>G)
c.230+11958T>G
c.5366T>G (p.Ile1789Arg)
c.5261T>G (p.Ile1754Arg)
c.5252T>G (p.Ile1751Arg)
c.5213T>G (p.Ile1738Arg)
c.5159T>G (p.Ile1720Arg)
c.5063T>G (p.Ile1688Arg)
c.5033T>G (p.Ile1678Arg)
c.4958T>G (p.Ile1653Arg)
c.4856T>G (p.Ile1619Arg)
c.4487T>G (p.Ile1496Arg)
 dbSNP
5g.112840930T=CA1573475672APCc.5390T= (p.Ile1797=)
c.*5342T= (n.*5342T=)
c.5282T= (p.Ile1761=)
c.5336T= (p.Ile1779=)
c.*4658T= (n.*4658T=)
c.230+11958T=
c.5366T= (p.Ile1789=)
c.5261T= (p.Ile1754=)
c.5252T= (p.Ile1751=)
c.5213T= (p.Ile1738=)
c.5159T= (p.Ile1720=)
c.5063T= (p.Ile1688=)
c.5033T= (p.Ile1678=)
c.4958T= (p.Ile1653=)
c.4856T= (p.Ile1619=)
c.4487T= (p.Ile1496=)
5g.112840931A=CA1573475687APCc.5391A= (p.Ile1797=)
c.*5343A= (n.*5343A=)
c.5283A= (p.Ile1761=)
c.5337A= (p.Ile1779=)
c.*4659A= (n.*4659A=)
c.230+11959A=
c.5367A= (p.Ile1789=)
c.5262A= (p.Ile1754=)
c.5253A= (p.Ile1751=)
c.5214A= (p.Ile1738=)
c.5160A= (p.Ile1720=)
c.5064A= (p.Ile1688=)
c.5034A= (p.Ile1678=)
c.4959A= (p.Ile1653=)
c.4857A= (p.Ile1619=)
c.4488A= (p.Ile1496=)
5g.112840931A>CCA446208802APCc.5391A>C (p.Ile1797=)
c.*5343A>C (n.*5343A>C)
c.5283A>C (p.Ile1761=)
c.5337A>C (p.Ile1779=)
c.*4659A>C (n.*4659A>C)
c.230+11959A>C
c.5367A>C (p.Ile1789=)
c.5262A>C (p.Ile1754=)
c.5253A>C (p.Ile1751=)
c.5214A>C (p.Ile1738=)
c.5160A>C (p.Ile1720=)
c.5064A>C (p.Ile1688=)
c.5034A>C (p.Ile1678=)
c.4959A>C (p.Ile1653=)
c.4857A>C (p.Ile1619=)
c.4488A>C (p.Ile1496=)
5g.112840931A>GCA041612APCc.5391A>G (p.Ile1797Met)
c.*5343A>G (n.*5343A>G)
c.5283A>G (p.Ile1761Met)
c.5337A>G (p.Ile1779Met)
c.*4659A>G (n.*4659A>G)
c.230+11959A>G
c.5367A>G (p.Ile1789Met)
c.5262A>G (p.Ile1754Met)
c.5253A>G (p.Ile1751Met)
c.5214A>G (p.Ile1738Met)
c.5160A>G (p.Ile1720Met)
c.5064A>G (p.Ile1688Met)
c.5034A>G (p.Ile1678Met)
c.4959A>G (p.Ile1653Met)
c.4857A>G (p.Ile1619Met)
c.4488A>G (p.Ile1496Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112840931A>TCA446208803APCc.5391A>T (p.Ile1797=)
c.*5343A>T (n.*5343A>T)
c.5283A>T (p.Ile1761=)
c.5337A>T (p.Ile1779=)
c.*4659A>T (n.*4659A>T)
c.230+11959A>T
c.5367A>T (p.Ile1789=)
c.5262A>T (p.Ile1754=)
c.5253A>T (p.Ile1751=)
c.5214A>T (p.Ile1738=)
c.5160A>T (p.Ile1720=)
c.5064A>T (p.Ile1688=)
c.5034A>T (p.Ile1678=)
c.4959A>T (p.Ile1653=)
c.4857A>T (p.Ile1619=)
c.4488A>T (p.Ile1496=)
 ClinVar
5g.112840932C>ACA16032998APCc.5392C>A (p.Pro1798Thr)
c.*5344C>A (n.*5344C>A)
c.5284C>A (p.Pro1762Thr)
c.5338C>A (p.Pro1780Thr)
c.*4660C>A (n.*4660C>A)
c.230+11960C>A
c.5368C>A (p.Pro1790Thr)
c.5263C>A (p.Pro1755Thr)
c.5254C>A (p.Pro1752Thr)
c.5215C>A (p.Pro1739Thr)
c.5161C>A (p.Pro1721Thr)
c.5065C>A (p.Pro1689Thr)
c.5035C>A (p.Pro1679Thr)
c.4960C>A (p.Pro1654Thr)
c.4858C>A (p.Pro1620Thr)
c.4489C>A (p.Pro1497Thr)
 dbSNP
5g.112840932C>GCA16032999APCc.5392C>G (p.Pro1798Ala)
c.*5344C>G (n.*5344C>G)
c.5284C>G (p.Pro1762Ala)
c.5338C>G (p.Pro1780Ala)
c.*4660C>G (n.*4660C>G)
c.230+11960C>G
c.5368C>G (p.Pro1790Ala)
c.5263C>G (p.Pro1755Ala)
c.5254C>G (p.Pro1752Ala)
c.5215C>G (p.Pro1739Ala)
c.5161C>G (p.Pro1721Ala)
c.5065C>G (p.Pro1689Ala)
c.5035C>G (p.Pro1679Ala)
c.4960C>G (p.Pro1654Ala)
c.4858C>G (p.Pro1620Ala)
c.4489C>G (p.Pro1497Ala)
 dbSNP
5g.112840932C>TCA16033000APCc.5392C>T (p.Pro1798Ser)
c.*5344C>T (n.*5344C>T)
c.5284C>T (p.Pro1762Ser)
c.5338C>T (p.Pro1780Ser)
c.*4660C>T (n.*4660C>T)
c.230+11960C>T
c.5368C>T (p.Pro1790Ser)
c.5263C>T (p.Pro1755Ser)
c.5254C>T (p.Pro1752Ser)
c.5215C>T (p.Pro1739Ser)
c.5161C>T (p.Pro1721Ser)
c.5065C>T (p.Pro1689Ser)
c.5035C>T (p.Pro1679Ser)
c.4960C>T (p.Pro1654Ser)
c.4858C>T (p.Pro1620Ser)
c.4489C>T (p.Pro1497Ser)
 dbSNP
5g.112840932_112840933insACA2767942147APCc.5392_5393insA (p.Pro1798HisfsTer5)
c.*5344_*5345insA (n.*5344_*5345insA)
c.5284_5285insA (p.Pro1762HisfsTer5)
c.5338_5339insA (p.Pro1780HisfsTer5)
c.*4660_*4661insA (n.*4660_*4661insA)
c.230+11960_230+11961insA
c.5368_5369insA (p.Pro1790HisfsTer5)
c.5263_5264insA (p.Pro1755HisfsTer5)
c.5254_5255insA (p.Pro1752HisfsTer5)
c.5215_5216insA (p.Pro1739HisfsTer5)
c.5161_5162insA (p.Pro1721HisfsTer5)
c.5065_5066insA (p.Pro1689HisfsTer5)
c.5035_5036insA (p.Pro1679HisfsTer5)
c.4960_4961insA (p.Pro1654HisfsTer5)
c.4858_4859insA (p.Pro1620HisfsTer5)
c.4489_4490insA (p.Pro1497HisfsTer5)
5g.112840932_112840933insACACCCAACA2767942149APCc.5392_5393insACACCCAA (p.Pro1798HisfsTer13)
c.*5344_*5345insACACCCAA (n.*5344_*5345insACACCCAA)
c.5284_5285insACACCCAA (p.Pro1762HisfsTer13)
c.5338_5339insACACCCAA (p.Pro1780HisfsTer13)
c.*4660_*4661insACACCCAA (n.*4660_*4661insACACCCAA)
c.230+11960_230+11961insACACCCAA
c.5368_5369insACACCCAA (p.Pro1790HisfsTer13)
c.5263_5264insACACCCAA (p.Pro1755HisfsTer13)
c.5254_5255insACACCCAA (p.Pro1752HisfsTer13)
c.5215_5216insACACCCAA (p.Pro1739HisfsTer13)
c.5161_5162insACACCCAA (p.Pro1721HisfsTer13)
c.5065_5066insACACCCAA (p.Pro1689HisfsTer13)
c.5035_5036insACACCCAA (p.Pro1679HisfsTer13)
c.4960_4961insACACCCAA (p.Pro1654HisfsTer13)
c.4858_4859insACACCCAA (p.Pro1620HisfsTer13)
c.4489_4490insACACCCAA (p.Pro1497HisfsTer13)
5g.112840933C>ACA10584255APCc.5393C>A (p.Pro1798Gln)
c.*5345C>A (n.*5345C>A)
c.5285C>A (p.Pro1762Gln)
c.5339C>A (p.Pro1780Gln)
c.*4661C>A (n.*4661C>A)
c.230+11961C>A
c.5369C>A (p.Pro1790Gln)
c.5264C>A (p.Pro1755Gln)
c.5255C>A (p.Pro1752Gln)
c.5216C>A (p.Pro1739Gln)
c.5162C>A (p.Pro1721Gln)
c.5066C>A (p.Pro1689Gln)
c.5036C>A (p.Pro1679Gln)
c.4961C>A (p.Pro1654Gln)
c.4859C>A (p.Pro1620Gln)
c.4490C>A (p.Pro1497Gln)
 ClinVar dbSNP
5g.112840933C=CA1573475699APCc.5393C= (p.Pro1798=)
c.*5345C= (n.*5345C=)
c.5285C= (p.Pro1762=)
c.5339C= (p.Pro1780=)
c.*4661C= (n.*4661C=)
c.230+11961C=
c.5369C= (p.Pro1790=)
c.5264C= (p.Pro1755=)
c.5255C= (p.Pro1752=)
c.5216C= (p.Pro1739=)
c.5162C= (p.Pro1721=)
c.5066C= (p.Pro1689=)
c.5036C= (p.Pro1679=)
c.4961C= (p.Pro1654=)
c.4859C= (p.Pro1620=)
c.4490C= (p.Pro1497=)
5g.112840933C>GCA16033001APCc.5393C>G (p.Pro1798Arg)
c.*5345C>G (n.*5345C>G)
c.5285C>G (p.Pro1762Arg)
c.5339C>G (p.Pro1780Arg)
c.*4661C>G (n.*4661C>G)
c.230+11961C>G
c.5369C>G (p.Pro1790Arg)
c.5264C>G (p.Pro1755Arg)
c.5255C>G (p.Pro1752Arg)
c.5216C>G (p.Pro1739Arg)
c.5162C>G (p.Pro1721Arg)
c.5066C>G (p.Pro1689Arg)
c.5036C>G (p.Pro1679Arg)
c.4961C>G (p.Pro1654Arg)
c.4859C>G (p.Pro1620Arg)
c.4490C>G (p.Pro1497Arg)
 dbSNP
5g.112840933C>TCA16033002APCc.5393C>T (p.Pro1798Leu)
c.*5345C>T (n.*5345C>T)
c.5285C>T (p.Pro1762Leu)
c.5339C>T (p.Pro1780Leu)
c.*4661C>T (n.*4661C>T)
c.230+11961C>T
c.5369C>T (p.Pro1790Leu)
c.5264C>T (p.Pro1755Leu)
c.5255C>T (p.Pro1752Leu)
c.5216C>T (p.Pro1739Leu)
c.5162C>T (p.Pro1721Leu)
c.5066C>T (p.Pro1689Leu)
c.5036C>T (p.Pro1679Leu)
c.4961C>T (p.Pro1654Leu)
c.4859C>T (p.Pro1620Leu)
c.4490C>T (p.Pro1497Leu)
 ClinVar dbSNP
5g.112840934A>CCA446208804APCc.5394A>C (p.Pro1798=)
c.*5346A>C (n.*5346A>C)
c.5286A>C (p.Pro1762=)
c.5340A>C (p.Pro1780=)
c.*4662A>C (n.*4662A>C)
c.230+11962A>C
c.5370A>C (p.Pro1790=)
c.5265A>C (p.Pro1755=)
c.5256A>C (p.Pro1752=)
c.5217A>C (p.Pro1739=)
c.5163A>C (p.Pro1721=)
c.5067A>C (p.Pro1689=)
c.5037A>C (p.Pro1679=)
c.4962A>C (p.Pro1654=)
c.4860A>C (p.Pro1620=)
c.4491A>C (p.Pro1497=)
 dbSNP
5g.112840934A>GCA446208805APCc.5394A>G (p.Pro1798=)
c.*5346A>G (n.*5346A>G)
c.5286A>G (p.Pro1762=)
c.5340A>G (p.Pro1780=)
c.*4662A>G (n.*4662A>G)
c.230+11962A>G
c.5370A>G (p.Pro1790=)
c.5265A>G (p.Pro1755=)
c.5256A>G (p.Pro1752=)
c.5217A>G (p.Pro1739=)
c.5163A>G (p.Pro1721=)
c.5067A>G (p.Pro1689=)
c.5037A>G (p.Pro1679=)
c.4962A>G (p.Pro1654=)
c.4860A>G (p.Pro1620=)
c.4491A>G (p.Pro1497=)
 dbSNP gnomAD v4
5g.112840934A>TCA446208806APCc.5394A>T (p.Pro1798=)
c.*5346A>T (n.*5346A>T)
c.5286A>T (p.Pro1762=)
c.5340A>T (p.Pro1780=)
c.*4662A>T (n.*4662A>T)
c.230+11962A>T
c.5370A>T (p.Pro1790=)
c.5265A>T (p.Pro1755=)
c.5256A>T (p.Pro1752=)
c.5217A>T (p.Pro1739=)
c.5163A>T (p.Pro1721=)
c.5067A>T (p.Pro1689=)
c.5037A>T (p.Pro1679=)
c.4962A>T (p.Pro1654=)
c.4860A>T (p.Pro1620=)
c.4491A>T (p.Pro1497=)
 dbSNP gnomAD v4

Number of alleles fetched