Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54628020_54628039delinsTATAAAAATGGATTTAATACCA1785188992RP1c.4138_4157delinsTATAAAAATGGATTTAATAC (p.Tyr1380=)
c.787+5732_787+5751delinsTATAAAAATGGATTTAATAC (n.787+5732_787+5751delinsTATAAAAATGGATTTAATAC)
c.4159_4178delinsTATAAAAATGGATTTAATAC (p.Tyr1387=)
8g.54628023_54628041delCA1785188993RP1c.4141_4159del (p.Lys1381TrpfsTer10)
c.787+5735_787+5753del (n.787+5735_787+5753del)
c.4162_4180del (p.Lys1388TrpfsTer10)
 dbSNP gnomAD v4
8g.54628039C>ACA370981409RP1c.4157C>A (p.Thr1386Lys)
c.787+5751C>A (n.787+5751C>A)
c.4178C>A (p.Thr1393Lys)
8g.54628039C=CA1785189005RP1c.4157C= (p.Thr1386=)
c.787+5751C= (n.787+5751C=)
c.4178C= (p.Thr1393=)
8g.54628039C>GCA370981411RP1c.4157C>G (p.Thr1386Arg)
c.787+5751C>G (n.787+5751C>G)
c.4178C>G (p.Thr1393Arg)
8g.54628039C>TCA4751808RP1c.4157C>T (p.Thr1386Ile)
c.787+5751C>T (n.787+5751C>T)
c.4178C>T (p.Thr1393Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628040A>CCA461099748RP1c.4158A>C (p.Thr1386=)
c.787+5752A>C (n.787+5752A>C)
c.4179A>C (p.Thr1393=)
8g.54628040A>GCA461099749RP1c.4158A>G (p.Thr1386=)
c.787+5752A>G (n.787+5752A>G)
c.4179A>G (p.Thr1393=)
 ClinVar gnomAD v4
8g.54628040A>TCA461099750RP1c.4158A>T (p.Thr1386=)
c.787+5752A>T (n.787+5752A>T)
c.4179A>T (p.Thr1393=)
8g.54628041T>ACA370981414RP1c.4159T>A (p.Leu1387Met)
c.787+5753T>A (n.787+5753T>A)
c.4180T>A (p.Leu1394Met)
8g.54628041T>CCA461099753RP1c.4159T>C (p.Leu1387=)
c.787+5753T>C (n.787+5753T>C)
c.4180T>C (p.Leu1394=)
 dbSNP gnomAD v4
8g.54628041T>GCA370981416RP1c.4159T>G (p.Leu1387Val)
c.787+5753T>G (n.787+5753T>G)
c.4180T>G (p.Leu1394Val)
8g.54628041T=CA1785189006RP1c.4159T= (p.Leu1387=)
c.787+5753T= (n.787+5753T=)
c.4180T= (p.Leu1394=)
8g.54628042T>ACA370981423RP1c.4160T>A (p.Leu1387Ter)
c.787+5754T>A (n.787+5754T>A)
c.4181T>A (p.Leu1394Ter)
 gnomAD v4
8g.54628042T>CCA370981421RP1c.4160T>C (p.Leu1387Ser)
c.787+5754T>C (n.787+5754T>C)
c.4181T>C (p.Leu1394Ser)
8g.54628042T>GCA370981419RP1c.4160T>G (p.Leu1387Trp)
c.787+5754T>G (n.787+5754T>G)
c.4181T>G (p.Leu1394Trp)
 gnomAD v4
8g.54628043G>ACA4751809RP1c.4161G>A (p.Leu1387=)
c.787+5755G>A (n.787+5755G>A)
c.4182G>A (p.Leu1394=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628043G>CCA370981428RP1c.4161G>C (p.Leu1387Phe)
c.787+5755G>C (n.787+5755G>C)
c.4182G>C (p.Leu1394Phe)
 gnomAD v4
8g.54628043G=CA1785189007RP1c.4161G= (p.Leu1387=)
c.787+5755G= (n.787+5755G=)
c.4182G= (p.Leu1394=)
8g.54628043G>TCA370981431RP1c.4161G>T (p.Leu1387Phe)
c.787+5755G>T (n.787+5755G>T)
c.4182G>T (p.Leu1394Phe)
8g.54628044G>ACA370981433RP1c.4162G>A (p.Val1388Met)
c.787+5756G>A (n.787+5756G>A)
c.4183G>A (p.Val1395Met)
 gnomAD v4
8g.54628044G>CCA370981435RP1c.4162G>C (p.Val1388Leu)
c.787+5756G>C (n.787+5756G>C)
c.4183G>C (p.Val1395Leu)
8g.54628044G>TCA370981437RP1c.4162G>T (p.Val1388Leu)
c.787+5756G>T (n.787+5756G>T)
c.4183G>T (p.Val1395Leu)
8g.54628045T>ACA370981439RP1c.4163T>A (p.Val1388Glu)
c.787+5757T>A (n.787+5757T>A)
c.4184T>A (p.Val1395Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.54628045T>CCA370981441RP1c.4163T>C (p.Val1388Ala)
c.787+5757T>C (n.787+5757T>C)
c.4184T>C (p.Val1395Ala)
8g.54628045T>GCA370981443RP1c.4163T>G (p.Val1388Gly)
c.787+5757T>G (n.787+5757T>G)
c.4184T>G (p.Val1395Gly)
8g.54628045T=CA1785189008RP1c.4163T= (p.Val1388=)
c.787+5757T= (n.787+5757T=)
c.4184T= (p.Val1395=)
8g.54628046G>ACA461099761RP1c.4164G>A (p.Val1388=)
c.787+5758G>A (n.787+5758G>A)
c.4185G>A (p.Val1395=)
 gnomAD v4
8g.54628046G>CCA461099763RP1c.4164G>C (p.Val1388=)
c.787+5758G>C (n.787+5758G>C)
c.4185G>C (p.Val1395=)
8g.54628046G>TCA461099764RP1c.4164G>T (p.Val1388=)
c.787+5758G>T (n.787+5758G>T)
c.4185G>T (p.Val1395=)
 gnomAD v4
8g.54628047T>ACA370981445RP1c.4165T>A (p.Ser1389Thr)
c.787+5759T>A (n.787+5759T>A)
c.4186T>A (p.Ser1396Thr)
8g.54628047T>CCA4751810RP1c.4165T>C (p.Ser1389Pro)
c.787+5759T>C (n.787+5759T>C)
c.4186T>C (p.Ser1396Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628047T>GCA370981449RP1c.4165T>G (p.Ser1389Ala)
c.787+5759T>G (n.787+5759T>G)
c.4186T>G (p.Ser1396Ala)
8g.54628047T=CA1785189009RP1c.4165T= (p.Ser1389=)
c.787+5759T= (n.787+5759T=)
c.4186T= (p.Ser1396=)
8g.54628048C>ACA370981455RP1c.4166C>A (p.Ser1389Ter)
c.787+5760C>A (n.787+5760C>A)
c.4187C>A (p.Ser1396Ter)
8g.54628048C>GCA370981451RP1c.4166C>G (p.Ser1389Ter)
c.787+5760C>G (n.787+5760C>G)
c.4187C>G (p.Ser1396Ter)
 gnomAD v4
8g.54628048C>TCA370981453RP1c.4166C>T (p.Ser1389Leu)
c.787+5760C>T (n.787+5760C>T)
c.4187C>T (p.Ser1396Leu)
8g.54628049A=CA1785189010RP1c.4167A= (p.Ser1389=)
c.787+5761A= (n.787+5761A=)
c.4188A= (p.Ser1396=)
8g.54628049A>CCA461099767RP1c.4167A>C (p.Ser1389=)
c.787+5761A>C (n.787+5761A>C)
c.4188A>C (p.Ser1396=)
8g.54628049A>GCA4751811RP1c.4167A>G (p.Ser1389=)
c.787+5761A>G (n.787+5761A>G)
c.4188A>G (p.Ser1396=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628049A>TCA461099768RP1c.4167A>T (p.Ser1389=)
c.787+5761A>T (n.787+5761A>T)
c.4188A>T (p.Ser1396=)
8g.54628050C>ACA370981460RP1c.4168C>A (p.His1390Asn)
c.787+5762C>A (n.787+5762C>A)
c.4189C>A (p.His1397Asn)
8g.54628050C=CA1785189011RP1c.4168C= (p.His1390=)
c.787+5762C= (n.787+5762C=)
c.4189C= (p.His1397=)
8g.54628050C>GCA370981461RP1c.4168C>G (p.His1390Asp)
c.787+5762C>G (n.787+5762C>G)
c.4189C>G (p.His1397Asp)
8g.54628050C>TCA370981464RP1c.4168C>T (p.His1390Tyr)
c.787+5762C>T (n.787+5762C>T)
c.4189C>T (p.His1397Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.54628050_54628051insTCA2695209306RP1c.4168_4169insT (p.His1390LeufsTer6)
c.787+5762_787+5763insT (n.787+5762_787+5763insT)
c.4189_4190insT (p.His1397LeufsTer6)
8g.54628051A=CA1785189012RP1c.4169A= (p.His1390=)
c.787+5763A= (n.787+5763A=)
c.4190A= (p.His1397=)
8g.54628051A>CCA370981468RP1c.4169A>C (p.His1390Pro)
c.787+5763A>C (n.787+5763A>C)
c.4190A>C (p.His1397Pro)
8g.54628051A>GCA370981469RP1c.4169A>G (p.His1390Arg)
c.787+5763A>G (n.787+5763A>G)
c.4190A>G (p.His1397Arg)
8g.54628051A>TCA370981471RP1c.4169A>T (p.His1390Leu)
c.787+5763A>T (n.787+5763A>T)
c.4190A>T (p.His1397Leu)
 dbSNP
8g.54628051delinsTGCA2695209307RP1c.4169delinsTG (p.His1390LeufsTer6)
c.787+5763delinsTG (n.787+5763delinsTG)
c.4190delinsTG (p.His1397LeufsTer6)
8g.54628052T>ACA370981472RP1c.4170T>A (p.His1390Gln)
c.787+5764T>A (n.787+5764T>A)
c.4191T>A (p.His1397Gln)
8g.54628052T>CCA461099773RP1c.4170T>C (p.His1390=)
c.787+5764T>C (n.787+5764T>C)
c.4191T>C (p.His1397=)
8g.54628052T>GCA370981473RP1c.4170T>G (p.His1390Gln)
c.787+5764T>G (n.787+5764T>G)
c.4191T>G (p.His1397Gln)
8g.54628053delCA2499219352RP1c.4171del (p.Gln1391LysfsTer6)
c.787+5765del (n.787+5765del)
c.4192del (p.Gln1398LysfsTer6)
 ClinVar dbSNP
8g.54628053C>ACA370981475RP1c.4171C>A (p.Gln1391Lys)
c.787+5765C>A (n.787+5765C>A)
c.4192C>A (p.Gln1398Lys)
8g.54628053C>GCA370981477RP1c.4171C>G (p.Gln1391Glu)
c.787+5765C>G (n.787+5765C>G)
c.4192C>G (p.Gln1398Glu)
8g.54628053C>TCA370981479RP1c.4171C>T (p.Gln1391Ter)
c.787+5765C>T (n.787+5765C>T)
c.4192C>T (p.Gln1398Ter)
8g.54628054A>CCA370981481RP1c.4172A>C (p.Gln1391Pro)
c.787+5766A>C (n.787+5766A>C)
c.4193A>C (p.Gln1398Pro)
8g.54628054A>GCA370981482RP1c.4172A>G (p.Gln1391Arg)
c.787+5766A>G (n.787+5766A>G)
c.4193A>G (p.Gln1398Arg)
8g.54628054A>TCA370981480RP1c.4172A>T (p.Gln1391Leu)
c.787+5766A>T (n.787+5766A>T)
c.4193A>T (p.Gln1398Leu)
8g.54628055A>CCA370981484RP1c.4173A>C (p.Gln1391His)
c.787+5767A>C (n.787+5767A>C)
c.4194A>C (p.Gln1398His)
8g.54628055A>GCA461099779RP1c.4173A>G (p.Gln1391=)
c.787+5767A>G (n.787+5767A>G)
c.4194A>G (p.Gln1398=)
8g.54628055A>TCA370981483RP1c.4173A>T (p.Gln1391His)
c.787+5767A>T (n.787+5767A>T)
c.4194A>T (p.Gln1398His)
8g.54628056A>CCA370981486RP1c.4174A>C (p.Asn1392His)
c.787+5768A>C (n.787+5768A>C)
c.4195A>C (p.Asn1399His)
8g.54628056A>GCA370981488RP1c.4174A>G (p.Asn1392Asp)
c.787+5768A>G (n.787+5768A>G)
c.4195A>G (p.Asn1399Asp)
 COSMIC
8g.54628056A>TCA370981490RP1c.4174A>T (p.Asn1392Tyr)
c.787+5768A>T (n.787+5768A>T)
c.4195A>T (p.Asn1399Tyr)
8g.54628057A=CA1785189013RP1c.4175A= (p.Asn1392=)
c.787+5769A= (n.787+5769A=)
c.4196A= (p.Asn1399=)
8g.54628057A>CCA370981492RP1c.4175A>C (p.Asn1392Thr)
c.787+5769A>C (n.787+5769A>C)
c.4196A>C (p.Asn1399Thr)
8g.54628057A>GCA4751812RP1c.4175A>G (p.Asn1392Ser)
c.787+5769A>G (n.787+5769A>G)
c.4196A>G (p.Asn1399Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.54628057A>TCA370981497RP1c.4175A>T (p.Asn1392Ile)
c.787+5769A>T (n.787+5769A>T)
c.4196A>T (p.Asn1399Ile)
 dbSNP gnomAD v4
8g.54628058T>ACA370981499RP1c.4176T>A (p.Asn1392Lys)
c.787+5770T>A (n.787+5770T>A)
c.4197T>A (p.Asn1399Lys)
8g.54628058T>CCA461099789RP1c.4176T>C (p.Asn1392=)
c.787+5770T>C (n.787+5770T>C)
c.4197T>C (p.Asn1399=)
 dbSNP gnomAD v4 COSMIC
8g.54628058T>GCA370981502RP1c.4176T>G (p.Asn1392Lys)
c.787+5770T>G (n.787+5770T>G)
c.4197T>G (p.Asn1399Lys)
8g.54628058T=CA1785189014RP1c.4176T= (p.Asn1392=)
c.787+5770T= (n.787+5770T=)
c.4197T= (p.Asn1399=)
8g.54628059G>ACA370981505RP1c.4177G>A (p.Val1393Ile)
c.787+5771G>A (n.787+5771G>A)
c.4198G>A (p.Val1400Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54628059G>CCA370981506RP1c.4177G>C (p.Val1393Leu)
c.787+5771G>C (n.787+5771G>C)
c.4198G>C (p.Val1400Leu)
8g.54628059G=CA1785189015RP1c.4177G= (p.Val1393=)
c.787+5771G= (n.787+5771G=)
c.4198G= (p.Val1400=)
8g.54628059G>TCA370981507RP1c.4177G>T (p.Val1393Phe)
c.787+5771G>T (n.787+5771G>T)
c.4198G>T (p.Val1400Phe)
8g.54628060T>ACA370981512RP1c.4178T>A (p.Val1393Asp)
c.787+5772T>A (n.787+5772T>A)
c.4199T>A (p.Val1400Asp)
8g.54628060T>CCA4751813RP1c.4178T>C (p.Val1393Ala)
c.787+5772T>C (n.787+5772T>C)
c.4199T>C (p.Val1400Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628060T>GCA370981510RP1c.4178T>G (p.Val1393Gly)
c.787+5772T>G (n.787+5772T>G)
c.4199T>G (p.Val1400Gly)
8g.54628060T=CA1785189016RP1c.4178T= (p.Val1393=)
c.787+5772T= (n.787+5772T=)
c.4199T= (p.Val1400=)
8g.54628061C>ACA461099793RP1c.4179C>A (p.Val1393=)
c.787+5773C>A (n.787+5773C>A)
c.4200C>A (p.Val1400=)
8g.54628061C>GCA461099794RP1c.4179C>G (p.Val1393=)
c.787+5773C>G (n.787+5773C>G)
c.4200C>G (p.Val1400=)
 gnomAD v4
8g.54628061C>TCA461099795RP1c.4179C>T (p.Val1393=)
c.787+5773C>T (n.787+5773C>T)
c.4200C>T (p.Val1400=)
 gnomAD v4
8g.54628062A>CCA370981517RP1c.4180A>C (p.Ser1394Arg)
c.787+5774A>C (n.787+5774A>C)
c.4201A>C (p.Ser1401Arg)
 gnomAD v4
8g.54628062A>GCA370981519RP1c.4180A>G (p.Ser1394Gly)
c.787+5774A>G (n.787+5774A>G)
c.4201A>G (p.Ser1401Gly)
8g.54628062A>TCA370981521RP1c.4180A>T (p.Ser1394Cys)
c.787+5774A>T (n.787+5774A>T)
c.4201A>T (p.Ser1401Cys)
8g.54628063G>ACA370981523RP1c.4181G>A (p.Ser1394Asn)
c.787+5775G>A (n.787+5775G>A)
c.4202G>A (p.Ser1401Asn)
8g.54628063G>CCA370981526RP1c.4181G>C (p.Ser1394Thr)
c.787+5775G>C (n.787+5775G>C)
c.4202G>C (p.Ser1401Thr)
8g.54628063G>TCA370981532RP1c.4181G>T (p.Ser1394Ile)
c.787+5775G>T (n.787+5775G>T)
c.4202G>T (p.Ser1401Ile)
8g.54628064T>ACA370981535RP1c.4182T>A (p.Ser1394Arg)
c.787+5776T>A (n.787+5776T>A)
c.4203T>A (p.Ser1401Arg)
8g.54628064T>CCA461099801RP1c.4182T>C (p.Ser1394=)
c.787+5776T>C (n.787+5776T>C)
c.4203T>C (p.Ser1401=)
8g.54628064T>GCA370981537RP1c.4182T>G (p.Ser1394Arg)
c.787+5776T>G (n.787+5776T>G)
c.4203T>G (p.Ser1401Arg)
8g.54628065A>CCA370981539RP1c.4183A>C (p.Asn1395His)
c.787+5777A>C (n.787+5777A>C)
c.4204A>C (p.Asn1402His)
8g.54628065A>GCA370981542RP1c.4183A>G (p.Asn1395Asp)
c.787+5777A>G (n.787+5777A>G)
c.4204A>G (p.Asn1402Asp)
8g.54628065A>TCA370981544RP1c.4183A>T (p.Asn1395Tyr)
c.787+5777A>T (n.787+5777A>T)
c.4204A>T (p.Asn1402Tyr)
8g.54628066A=CA1785189017RP1c.4184A= (p.Asn1395=)
c.787+5778A= (n.787+5778A=)
c.4205A= (p.Asn1402=)
8g.54628066A>CCA370981547RP1c.4184A>C (p.Asn1395Thr)
c.787+5778A>C (n.787+5778A>C)
c.4205A>C (p.Asn1402Thr)
8g.54628066A>GCA370981549RP1c.4184A>G (p.Asn1395Ser)
c.787+5778A>G (n.787+5778A>G)
c.4205A>G (p.Asn1402Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.54628066A>TCA370981551RP1c.4184A>T (p.Asn1395Ile)
c.787+5778A>T (n.787+5778A>T)
c.4205A>T (p.Asn1402Ile)
8g.54628067T>ACA370981554RP1c.4185T>A (p.Asn1395Lys)
c.787+5779T>A (n.787+5779T>A)
c.4206T>A (p.Asn1402Lys)
8g.54628067T>CCA461099806RP1c.4185T>C (p.Asn1395=)
c.787+5779T>C (n.787+5779T>C)
c.4206T>C (p.Asn1402=)
8g.54628067T>GCA370981556RP1c.4185T>G (p.Asn1395Lys)
c.787+5779T>G (n.787+5779T>G)
c.4206T>G (p.Asn1402Lys)
 gnomAD v4
8g.54628068T>ACA370981558RP1c.4186T>A (p.Leu1396Ile)
c.787+5780T>A (n.787+5780T>A)
c.4207T>A (p.Leu1403Ile)
8g.54628068T>CCA461099807RP1c.4186T>C (p.Leu1396=)
c.787+5780T>C (n.787+5780T>C)
c.4207T>C (p.Leu1403=)
8g.54628068T>GCA370981560RP1c.4186T>G (p.Leu1396Val)
c.787+5780T>G (n.787+5780T>G)
c.4207T>G (p.Leu1403Val)
 gnomAD v4 COSMIC
8g.54628069T>ACA370981562RP1c.4187T>A (p.Leu1396Ter)
c.787+5781T>A (n.787+5781T>A)
c.4208T>A (p.Leu1403Ter)
8g.54628069T>CCA370981564RP1c.4187T>C (p.Leu1396Ser)
c.787+5781T>C (n.787+5781T>C)
c.4208T>C (p.Leu1403Ser)
8g.54628069T>GCA370981566RP1c.4187T>G (p.Leu1396Ter)
c.787+5781T>G (n.787+5781T>G)
c.4208T>G (p.Leu1403Ter)
8g.54628070A=CA1785189018RP1c.4188A= (p.Leu1396=)
c.787+5782A= (n.787+5782A=)
c.4209A= (p.Leu1403=)
8g.54628070A>CCA370981567RP1c.4188A>C (p.Leu1396Phe)
c.787+5782A>C (n.787+5782A>C)
c.4209A>C (p.Leu1403Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.54628070A>GCA461099810RP1c.4188A>G (p.Leu1396=)
c.787+5782A>G (n.787+5782A>G)
c.4209A>G (p.Leu1403=)
8g.54628070A>TCA370981568RP1c.4188A>T (p.Leu1396Phe)
c.787+5782A>T (n.787+5782A>T)
c.4209A>T (p.Leu1403Phe)
 gnomAD v4
8g.54628071A>CCA370981571RP1c.4189A>C (p.Ser1397Arg)
c.787+5783A>C (n.787+5783A>C)
c.4210A>C (p.Ser1404Arg)
8g.54628071A>GCA370981573RP1c.4189A>G (p.Ser1397Gly)
c.787+5783A>G (n.787+5783A>G)
c.4210A>G (p.Ser1404Gly)
8g.54628071A>TCA370981576RP1c.4189A>T (p.Ser1397Cys)
c.787+5783A>T (n.787+5783A>T)
c.4210A>T (p.Ser1404Cys)
8g.54628072G>ACA370981578RP1c.4190G>A (p.Ser1397Asn)
c.787+5784G>A (n.787+5784G>A)
c.4211G>A (p.Ser1404Asn)
8g.54628072G>CCA370981580RP1c.4190G>C (p.Ser1397Thr)
c.787+5784G>C (n.787+5784G>C)
c.4211G>C (p.Ser1404Thr)
 dbSNP gnomAD v3 gnomAD v4
8g.54628072G=CA1785189019RP1c.4190G= (p.Ser1397=)
c.787+5784G= (n.787+5784G=)
c.4211G= (p.Ser1404=)
8g.54628072G>TCA370981582RP1c.4190G>T (p.Ser1397Ile)
c.787+5784G>T (n.787+5784G>T)
c.4211G>T (p.Ser1404Ile)
8g.54628073C>ACA370981587RP1c.4191C>A (p.Ser1397Arg)
c.787+5785C>A (n.787+5785C>A)
c.4212C>A (p.Ser1404Arg)
8g.54628073C>GCA370981585RP1c.4191C>G (p.Ser1397Arg)
c.787+5785C>G (n.787+5785C>G)
c.4212C>G (p.Ser1404Arg)
8g.54628073C>TCA461099817RP1c.4191C>T (p.Ser1397=)
c.787+5785C>T (n.787+5785C>T)
c.4212C>T (p.Ser1404=)
8g.54628074T>ACA370981591RP1c.4192T>A (p.Ser1398Thr)
c.787+5786T>A (n.787+5786T>A)
c.4213T>A (p.Ser1405Thr)
8g.54628074T>CCA370981593RP1c.4192T>C (p.Ser1398Pro)
c.787+5786T>C (n.787+5786T>C)
c.4213T>C (p.Ser1405Pro)
8g.54628074T>GCA370981596RP1c.4192T>G (p.Ser1398Ala)
c.787+5786T>G (n.787+5786T>G)
c.4213T>G (p.Ser1405Ala)
8g.54628075C>ACA370981599RP1c.4193C>A (p.Ser1398Tyr)
c.787+5787C>A (n.787+5787C>A)
c.4214C>A (p.Ser1405Tyr)
8g.54628075C=CA1785189020RP1c.4193C= (p.Ser1398=)
c.787+5787C= (n.787+5787C=)
c.4214C= (p.Ser1405=)
8g.54628075C>GCA4751814RP1c.4193C>G (p.Ser1398Cys)
c.787+5787C>G (n.787+5787C>G)
c.4214C>G (p.Ser1405Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628075C>TCA370981601RP1c.4193C>T (p.Ser1398Phe)
c.787+5787C>T (n.787+5787C>T)
c.4214C>T (p.Ser1405Phe)
 COSMIC
8g.54628076C>ACA461099823RP1c.4194C>A (p.Ser1398=)
c.787+5788C>A (n.787+5788C>A)
c.4215C>A (p.Ser1405=)
8g.54628076C=CA1785189021RP1c.4194C= (p.Ser1398=)
c.787+5788C= (n.787+5788C=)
c.4215C= (p.Ser1405=)
8g.54628076C>GCA4751815RP1c.4194C>G (p.Ser1398=)
c.787+5788C>G (n.787+5788C>G)
c.4215C>G (p.Ser1405=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628076C>TCA461099824RP1c.4194C>T (p.Ser1398=)
c.787+5788C>T (n.787+5788C>T)
c.4215C>T (p.Ser1405=)
 dbSNP gnomAD v3 gnomAD v4
8g.54628077T>ACA370981605RP1c.4195T>A (p.Cys1399Ser)
c.787+5789T>A (n.787+5789T>A)
c.4216T>A (p.Cys1406Ser)
8g.54628077T>CCA177181411RP1c.4195T>C (p.Cys1399Arg)
c.787+5789T>C (n.787+5789T>C)
c.4216T>C (p.Cys1406Arg)
 dbSNP gnomAD v4
8g.54628077T>GCA370981608RP1c.4195T>G (p.Cys1399Gly)
c.787+5789T>G (n.787+5789T>G)
c.4216T>G (p.Cys1406Gly)
8g.54628077T=CA1785189022RP1c.4195T= (p.Cys1399=)
c.787+5789T= (n.787+5789T=)
c.4216T= (p.Cys1406=)
8g.54628077_54628078delinsTGCA1785189023RP1c.4195_4196delinsTG (p.Cys1399=)
c.787+5789_787+5790delinsTG (n.787+5789_787+5790delinsTG)
c.4216_4217delinsTG (p.Cys1406=)
8g.54628078delCA4751816RP1c.4196del (p.Cys1399LeufsTer5)
c.787+5790del (n.787+5790del)
c.4217del (p.Cys1406LeufsTer5)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628078G>ACA370981611RP1c.4196G>A (p.Cys1399Tyr)
c.787+5790G>A (n.787+5790G>A)
c.4217G>A (p.Cys1406Tyr)
8g.54628078G>CCA370981614RP1c.4196G>C (p.Cys1399Ser)
c.787+5790G>C (n.787+5790G>C)
c.4217G>C (p.Cys1406Ser)
8g.54628078G>TCA370981616RP1c.4196G>T (p.Cys1399Phe)
c.787+5790G>T (n.787+5790G>T)
c.4217G>T (p.Cys1406Phe)
8g.54628079T>ACA370981621RP1c.4197T>A (p.Cys1399Ter)
c.787+5791T>A (n.787+5791T>A)
c.4218T>A (p.Cys1406Ter)
8g.54628079T>CCA461099829RP1c.4197T>C (p.Cys1399=)
c.787+5791T>C (n.787+5791T>C)
c.4218T>C (p.Cys1406=)
8g.54628079T>GCA370981623RP1c.4197T>G (p.Cys1399Trp)
c.787+5791T>G (n.787+5791T>G)
c.4218T>G (p.Cys1406Trp)
8g.54628080G>ACA370981627RP1c.4198G>A (p.Gly1400Ser)
c.787+5792G>A (n.787+5792G>A)
c.4219G>A (p.Gly1407Ser)
8g.54628080G>CCA370981630RP1c.4198G>C (p.Gly1400Arg)
c.787+5792G>C (n.787+5792G>C)
c.4219G>C (p.Gly1407Arg)
8g.54628080G>TCA370981628RP1c.4198G>T (p.Gly1400Cys)
c.787+5792G>T (n.787+5792G>T)
c.4219G>T (p.Gly1407Cys)
8g.54628081G>ACA4751817RP1c.4199G>A (p.Gly1400Asp)
c.787+5793G>A (n.787+5793G>A)
c.4220G>A (p.Gly1407Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628081G>CCA370981638RP1c.4199G>C (p.Gly1400Ala)
c.787+5793G>C (n.787+5793G>C)
c.4220G>C (p.Gly1407Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.54628081G=CA1785189024RP1c.4199G= (p.Gly1400=)
c.787+5793G= (n.787+5793G=)
c.4220G= (p.Gly1407=)
8g.54628081G>TCA370981635RP1c.4199G>T (p.Gly1400Val)
c.787+5793G>T (n.787+5793G>T)
c.4220G>T (p.Gly1407Val)
8g.54628082C>ACA461099834RP1c.4200C>A (p.Gly1400=)
c.787+5794C>A (n.787+5794C>A)
c.4221C>A (p.Gly1407=)
 dbSNP gnomAD v3 gnomAD v4
8g.54628082C=CA1785189025RP1c.4200C= (p.Gly1400=)
c.787+5794C= (n.787+5794C=)
c.4221C= (p.Gly1407=)
8g.54628082C>GCA461099835RP1c.4200C>G (p.Gly1400=)
c.787+5794C>G (n.787+5794C>G)
c.4221C>G (p.Gly1407=)
 dbSNP gnomAD v4
8g.54628082C>TCA4751818RP1c.4200C>T (p.Gly1400=)
c.787+5794C>T (n.787+5794C>T)
c.4221C>T (p.Gly1407=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628083C>ACA370981642RP1c.4201C>A (p.Leu1401Ile)
c.787+5795C>A (n.787+5795C>A)
c.4222C>A (p.Leu1408Ile)
 gnomAD v4 COSMIC
8g.54628083C>GCA370981645RP1c.4201C>G (p.Leu1401Val)
c.787+5795C>G (n.787+5795C>G)
c.4222C>G (p.Leu1408Val)
8g.54628083C>TCA370981647RP1c.4201C>T (p.Leu1401Phe)
c.787+5795C>T (n.787+5795C>T)
c.4222C>T (p.Leu1408Phe)
 COSMIC
8g.54628084T>ACA370981651RP1c.4202T>A (p.Leu1401His)
c.787+5796T>A (n.787+5796T>A)
c.4223T>A (p.Leu1408His)
8g.54628084T>CCA370981652RP1c.4202T>C (p.Leu1401Pro)
c.787+5796T>C (n.787+5796T>C)
c.4223T>C (p.Leu1408Pro)
8g.54628084T>GCA370981655RP1c.4202T>G (p.Leu1401Arg)
c.787+5796T>G (n.787+5796T>G)
c.4223T>G (p.Leu1408Arg)
8g.54628085T>ACA461099842RP1c.4203T>A (p.Leu1401=)
c.787+5797T>A (n.787+5797T>A)
c.4224T>A (p.Leu1408=)
8g.54628085T>CCA461099843RP1c.4203T>C (p.Leu1401=)
c.787+5797T>C (n.787+5797T>C)
c.4224T>C (p.Leu1408=)
8g.54628085T>GCA461099845RP1c.4203T>G (p.Leu1401=)
c.787+5797T>G (n.787+5797T>G)
c.4224T>G (p.Leu1408=)
8g.54628086T>ACA370981658RP1c.4204T>A (p.Cys1402Ser)
c.787+5798T>A (n.787+5798T>A)
c.4225T>A (p.Cys1409Ser)
8g.54628086T>CCA370981661RP1c.4204T>C (p.Cys1402Arg)
c.787+5798T>C (n.787+5798T>C)
c.4225T>C (p.Cys1409Arg)
8g.54628086T>GCA370981663RP1c.4204T>G (p.Cys1402Gly)
c.787+5798T>G (n.787+5798T>G)
c.4225T>G (p.Cys1409Gly)
8g.54628087G>ACA370981666RP1c.4205G>A (p.Cys1402Tyr)
c.787+5799G>A (n.787+5799G>A)
c.4226G>A (p.Cys1409Tyr)
 dbSNP gnomAD v3 gnomAD v4
8g.54628087G>CCA370981669RP1c.4205G>C (p.Cys1402Ser)
c.787+5799G>C (n.787+5799G>C)
c.4226G>C (p.Cys1409Ser)
8g.54628087G=CA1785189026RP1c.4205G= (p.Cys1402=)
c.787+5799G= (n.787+5799G=)
c.4226G= (p.Cys1409=)
8g.54628087G>TCA4751819RP1c.4205G>T (p.Cys1402Phe)
c.787+5799G>T (n.787+5799G>T)
c.4226G>T (p.Cys1409Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628088C>ACA370981674RP1c.4206C>A (p.Cys1402Ter)
c.787+5800C>A (n.787+5800C>A)
c.4227C>A (p.Cys1409Ter)
8g.54628088C>GCA370981675RP1c.4206C>G (p.Cys1402Trp)
c.787+5800C>G (n.787+5800C>G)
c.4227C>G (p.Cys1409Trp)
8g.54628088C>TCA461099849RP1c.4206C>T (p.Cys1402=)
c.787+5800C>T (n.787+5800C>T)
c.4227C>T (p.Cys1409=)
8g.54628089C>ACA370981679RP1c.4207C>A (p.Leu1403Ile)
c.787+5801C>A (n.787+5801C>A)
c.4228C>A (p.Leu1410Ile)
8g.54628089C=CA1785189027RP1c.4207C= (p.Leu1403=)
c.787+5801C= (n.787+5801C=)
c.4228C= (p.Leu1410=)
8g.54628089C>GCA370981681RP1c.4207C>G (p.Leu1403Val)
c.787+5801C>G (n.787+5801C>G)
c.4228C>G (p.Leu1410Val)
8g.54628089C>TCA461099852RP1c.4207C>T (p.Leu1403=)
c.787+5801C>T (n.787+5801C>T)
c.4228C>T (p.Leu1410=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54628090T>ACA370981684RP1c.4208T>A (p.Leu1403Gln)
c.787+5802T>A (n.787+5802T>A)
c.4229T>A (p.Leu1410Gln)
8g.54628090T>CCA370981686RP1c.4208T>C (p.Leu1403Pro)
c.787+5802T>C (n.787+5802T>C)
c.4229T>C (p.Leu1410Pro)
8g.54628090T>GCA370981688RP1c.4208T>G (p.Leu1403Arg)
c.787+5802T>G (n.787+5802T>G)
c.4229T>G (p.Leu1410Arg)
8g.54628091A>CCA461099854RP1c.4209A>C (p.Leu1403=)
c.787+5803A>C (n.787+5803A>C)
c.4230A>C (p.Leu1410=)
8g.54628091A>GCA461099855RP1c.4209A>G (p.Leu1403=)
c.787+5803A>G (n.787+5803A>G)
c.4230A>G (p.Leu1410=)
8g.54628091A>TCA461099856RP1c.4209A>T (p.Leu1403=)
c.787+5803A>T (n.787+5803A>T)
c.4230A>T (p.Leu1410=)
8g.54628092A>CCA370981691RP1c.4210A>C (p.Ser1404Arg)
c.787+5804A>C (n.787+5804A>C)
c.4231A>C (p.Ser1411Arg)
 gnomAD v4
8g.54628092A>GCA370981694RP1c.4210A>G (p.Ser1404Gly)
c.787+5804A>G (n.787+5804A>G)
c.4231A>G (p.Ser1411Gly)
8g.54628092A>TCA370981695RP1c.4210A>T (p.Ser1404Cys)
c.787+5804A>T (n.787+5804A>T)
c.4231A>T (p.Ser1411Cys)
 COSMIC
8g.54628093G>ACA370981696RP1c.4211G>A (p.Ser1404Asn)
c.787+5805G>A (n.787+5805G>A)
c.4232G>A (p.Ser1411Asn)
 dbSNP
8g.54628093G>CCA370981697RP1c.4211G>C (p.Ser1404Thr)
c.787+5805G>C (n.787+5805G>C)
c.4232G>C (p.Ser1411Thr)
8g.54628093G=CA1785189028RP1c.4211G= (p.Ser1404=)
c.787+5805G= (n.787+5805G=)
c.4232G= (p.Ser1411=)
8g.54628093G>TCA370981698RP1c.4211G>T (p.Ser1404Ile)
c.787+5805G>T (n.787+5805G>T)
c.4232G>T (p.Ser1411Ile)
8g.54628093_54628094delinsGTCA1785189029RP1c.4211_4212delinsGT (p.Ser1404=)
c.787+5805_787+5806delinsGT (n.787+5805_787+5806delinsGT)
c.4232_4233delinsGT (p.Ser1411=)
8g.54628094delCA1785189030RP1c.4212del (p.Ser1404ArgfsTer14)
c.787+5806del (n.787+5806del)
c.4233del (p.Ser1411ArgfsTer14)
 ClinVar dbSNP gnomAD v4
8g.54628094T>ACA370981699RP1c.4212T>A (p.Ser1404Arg)
c.787+5806T>A (n.787+5806T>A)
c.4233T>A (p.Ser1411Arg)
8g.54628094T>CCA461099858RP1c.4212T>C (p.Ser1404=)
c.787+5806T>C (n.787+5806T>C)
c.4233T>C (p.Ser1411=)
8g.54628094T>GCA370981700RP1c.4212T>G (p.Ser1404Arg)
c.787+5806T>G (n.787+5806T>G)
c.4233T>G (p.Ser1411Arg)
8g.54628095G>ACA177181438RP1c.4213G>A (p.Glu1405Lys)
c.787+5807G>A (n.787+5807G>A)
c.4234G>A (p.Glu1412Lys)
 dbSNP COSMIC
8g.54628095G>CCA370981701RP1c.4213G>C (p.Glu1405Gln)
c.787+5807G>C (n.787+5807G>C)
c.4234G>C (p.Glu1412Gln)
8g.54628095G=CA1785189031RP1c.4213G= (p.Glu1405=)
c.787+5807G= (n.787+5807G=)
c.4234G= (p.Glu1412=)
8g.54628095G>TCA370981702RP1c.4213G>T (p.Glu1405Ter)
c.787+5807G>T (n.787+5807G>T)
c.4234G>T (p.Glu1412Ter)
 gnomAD v4 COSMIC
8g.54628096A=CA1785189032RP1c.4214A= (p.Glu1405=)
c.787+5808A= (n.787+5808A=)
c.4235A= (p.Glu1412=)
8g.54628096A>CCA370981703RP1c.4214A>C (p.Glu1405Ala)
c.787+5808A>C (n.787+5808A>C)
c.4235A>C (p.Glu1412Ala)
8g.54628096A>GCA370981704RP1c.4214A>G (p.Glu1405Gly)
c.787+5808A>G (n.787+5808A>G)
c.4235A>G (p.Glu1412Gly)
 dbSNP
8g.54628096A>TCA370981705RP1c.4214A>T (p.Glu1405Val)
c.787+5808A>T (n.787+5808A>T)
c.4235A>T (p.Glu1412Val)
8g.54628097A>CCA370981706RP1c.4215A>C (p.Glu1405Asp)
c.787+5809A>C (n.787+5809A>C)
c.4236A>C (p.Glu1412Asp)
8g.54628097A>GCA461099868RP1c.4215A>G (p.Glu1405=)
c.787+5809A>G (n.787+5809A>G)
c.4236A>G (p.Glu1412=)
8g.54628097A>TCA370981707RP1c.4215A>T (p.Glu1405Asp)
c.787+5809A>T (n.787+5809A>T)
c.4236A>T (p.Glu1412Asp)
8g.54628097_54628101delinsAAAAGCA1785189033RP1c.4215_4219delinsAAAAG (p.Glu1405=)
c.787+5809_787+5813delinsAAAAG (n.787+5809_787+5813delinsAAAAG)
c.4236_4240delinsAAAAG (p.Glu1412=)
8g.54628098A=CA1785189034RP1c.4216A= (p.Lys1406=)
c.787+5810A= (n.787+5810A=)
c.4237A= (p.Lys1413=)
8g.54628098A>CCA370981708RP1c.4216A>C (p.Lys1406Gln)
c.787+5810A>C (n.787+5810A>C)
c.4237A>C (p.Lys1413Gln)
 dbSNP gnomAD v4
8g.54628098A>GCA4751820RP1c.4216A>G (p.Lys1406Glu)
c.787+5810A>G (n.787+5810A>G)
c.4237A>G (p.Lys1413Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628098A>TCA370981709RP1c.4216A>T (p.Lys1406Ter)
c.787+5810A>T (n.787+5810A>T)
c.4237A>T (p.Lys1413Ter)
8g.54628100_54628103delCA1139660542RP1c.4218_4221del (p.Glu1407GlnfsTer10)
c.787+5812_787+5815del (n.787+5812_787+5815del)
c.4239_4242del (p.Glu1414GlnfsTer10)
 ClinVar dbSNP
8g.54628099A>CCA370981710RP1c.4217A>C (p.Lys1406Thr)
c.787+5811A>C (n.787+5811A>C)
c.4238A>C (p.Lys1413Thr)
8g.54628099A>GCA370981711RP1c.4217A>G (p.Lys1406Arg)
c.787+5811A>G (n.787+5811A>G)
c.4238A>G (p.Lys1413Arg)
8g.54628099A>TCA370981712RP1c.4217A>T (p.Lys1406Ile)
c.787+5811A>T (n.787+5811A>T)
c.4238A>T (p.Lys1413Ile)
8g.54628100A>CCA370981713RP1c.4218A>C (p.Lys1406Asn)
c.787+5812A>C (n.787+5812A>C)
c.4239A>C (p.Lys1413Asn)
 gnomAD v4
8g.54628100A>GCA461099877RP1c.4218A>G (p.Lys1406=)
c.787+5812A>G (n.787+5812A>G)
c.4239A>G (p.Lys1413=)
 COSMIC
8g.54628100A>TCA370981714RP1c.4218A>T (p.Lys1406Asn)
c.787+5812A>T (n.787+5812A>T)
c.4239A>T (p.Lys1413Asn)
8g.54628101G>ACA370981715RP1c.4219G>A (p.Glu1407Lys)
c.787+5813G>A (n.787+5813G>A)
c.4240G>A (p.Glu1414Lys)
8g.54628101G>CCA370981716RP1c.4219G>C (p.Glu1407Gln)
c.787+5813G>C (n.787+5813G>C)
c.4240G>C (p.Glu1414Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.54628101G=CA1785189035RP1c.4219G= (p.Glu1407=)
c.787+5813G= (n.787+5813G=)
c.4240G= (p.Glu1414=)
8g.54628101G>TCA370981717RP1c.4219G>T (p.Glu1407Ter)
c.787+5813G>T (n.787+5813G>T)
c.4240G>T (p.Glu1414Ter)
 COSMIC
8g.54628102A>CCA370981718RP1c.4220A>C (p.Glu1407Ala)
c.787+5814A>C (n.787+5814A>C)
c.4241A>C (p.Glu1414Ala)
8g.54628102A>GCA370981719RP1c.4220A>G (p.Glu1407Gly)
c.787+5814A>G (n.787+5814A>G)
c.4241A>G (p.Glu1414Gly)
8g.54628102A>TCA370981720RP1c.4220A>T (p.Glu1407Val)
c.787+5814A>T (n.787+5814A>T)
c.4241A>T (p.Glu1414Val)
8g.54628103A>CCA370981721RP1c.4221A>C (p.Glu1407Asp)
c.787+5815A>C (n.787+5815A>C)
c.4242A>C (p.Glu1414Asp)
8g.54628103A>GCA461099881RP1c.4221A>G (p.Glu1407=)
c.787+5815A>G (n.787+5815A>G)
c.4242A>G (p.Glu1414=)
8g.54628103A>TCA370981722RP1c.4221A>T (p.Glu1407Asp)
c.787+5815A>T (n.787+5815A>T)
c.4242A>T (p.Glu1414Asp)
 gnomAD v4
8g.54628104G>ACA370981723RP1c.4222G>A (p.Ala1408Thr)
c.787+5816G>A (n.787+5816G>A)
c.4243G>A (p.Ala1415Thr)
 ClinVar dbSNP
8g.54628104G>CCA370981724RP1c.4222G>C (p.Ala1408Pro)
c.787+5816G>C (n.787+5816G>C)
c.4243G>C (p.Ala1415Pro)
8g.54628104G=CA1785189036RP1c.4222G= (p.Ala1408=)
c.787+5816G= (n.787+5816G=)
c.4243G= (p.Ala1415=)
8g.54628104G>TCA370981725RP1c.4222G>T (p.Ala1408Ser)
c.787+5816G>T (n.787+5816G>T)
c.4243G>T (p.Ala1415Ser)
8g.54628105C>ACA4751821RP1c.4223C>A (p.Ala1408Glu)
c.787+5817C>A (n.787+5817C>A)
c.4244C>A (p.Ala1415Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628105C=CA1785189037RP1c.4223C= (p.Ala1408=)
c.787+5817C= (n.787+5817C=)
c.4244C= (p.Ala1415=)
8g.54628105C>GCA370981727RP1c.4223C>G (p.Ala1408Gly)
c.787+5817C>G (n.787+5817C>G)
c.4244C>G (p.Ala1415Gly)
8g.54628105C>TCA370981726RP1c.4223C>T (p.Ala1408Val)
c.787+5817C>T (n.787+5817C>T)
c.4244C>T (p.Ala1415Val)
 gnomAD v4
8g.54628106A=CA1785189038RP1c.4224A= (p.Ala1408=)
c.787+5818A= (n.787+5818A=)
c.4245A= (p.Ala1415=)
8g.54628106A>CCA461099883RP1c.4224A>C (p.Ala1408=)
c.787+5818A>C (n.787+5818A>C)
c.4245A>C (p.Ala1415=)
8g.54628106A>GCA177181453RP1c.4224A>G (p.Ala1408=)
c.787+5818A>G (n.787+5818A>G)
c.4245A>G (p.Ala1415=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54628106A>TCA461099889RP1c.4224A>T (p.Ala1408=)
c.787+5818A>T (n.787+5818A>T)
c.4245A>T (p.Ala1415=)
8g.54628107G>ACA370981730RP1c.4225G>A (p.Glu1409Lys)
c.787+5819G>A (n.787+5819G>A)
c.4246G>A (p.Glu1416Lys)
 COSMIC
8g.54628107G>CCA370981728RP1c.4225G>C (p.Glu1409Gln)
c.787+5819G>C (n.787+5819G>C)
c.4246G>C (p.Glu1416Gln)
8g.54628107G>TCA370981729RP1c.4225G>T (p.Glu1409Ter)
c.787+5819G>T (n.787+5819G>T)
c.4246G>T (p.Glu1416Ter)
8g.54628108A>CCA370981731RP1c.4226A>C (p.Glu1409Ala)
c.787+5820A>C (n.787+5820A>C)
c.4247A>C (p.Glu1416Ala)
8g.54628108A>GCA370981732RP1c.4226A>G (p.Glu1409Gly)
c.787+5820A>G (n.787+5820A>G)
c.4247A>G (p.Glu1416Gly)
 gnomAD v4
8g.54628108A>TCA370981733RP1c.4226A>T (p.Glu1409Val)
c.787+5820A>T (n.787+5820A>T)
c.4247A>T (p.Glu1416Val)
 ClinVar
8g.54628109A>CCA370981734RP1c.4227A>C (p.Glu1409Asp)
c.787+5821A>C (n.787+5821A>C)
c.4248A>C (p.Glu1416Asp)
 gnomAD v4
8g.54628109A>GCA461099894RP1c.4227A>G (p.Glu1409=)
c.787+5821A>G (n.787+5821A>G)
c.4248A>G (p.Glu1416=)
8g.54628109A>TCA370981735RP1c.4227A>T (p.Glu1409Asp)
c.787+5821A>T (n.787+5821A>T)
c.4248A>T (p.Glu1416Asp)
8g.54628110C>ACA370981736RP1c.4228C>A (p.Leu1410Ile)
c.787+5822C>A (n.787+5822C>A)
c.4249C>A (p.Leu1417Ile)
 gnomAD v4
8g.54628110C>GCA370981737RP1c.4228C>G (p.Leu1410Val)
c.787+5822C>G (n.787+5822C>G)
c.4249C>G (p.Leu1417Val)
8g.54628110C>TCA370981738RP1c.4228C>T (p.Leu1410Phe)
c.787+5822C>T (n.787+5822C>T)
c.4249C>T (p.Leu1417Phe)
8g.54628111T>ACA370981739RP1c.4229T>A (p.Leu1410His)
c.787+5823T>A (n.787+5823T>A)
c.4250T>A (p.Leu1417His)
8g.54628111T>CCA4751823RP1c.4229T>C (p.Leu1410Pro)
c.787+5823T>C (n.787+5823T>C)
c.4250T>C (p.Leu1417Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54628111T>GCA4751822RP1c.4229T>G (p.Leu1410Arg)
c.787+5823T>G (n.787+5823T>G)
c.4250T>G (p.Leu1417Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.54628111T=CA1785189039RP1c.4229T= (p.Leu1410=)
c.787+5823T= (n.787+5823T=)
c.4250T= (p.Leu1417=)
8g.54628112T>ACA461099901RP1c.4230T>A (p.Leu1410=)
c.787+5824T>A (n.787+5824T>A)
c.4251T>A (p.Leu1417=)
8g.54628112T>CCA461099902RP1c.4230T>C (p.Leu1410=)
c.787+5824T>C (n.787+5824T>C)
c.4251T>C (p.Leu1417=)
8g.54628112T>GCA461099903RP1c.4230T>G (p.Leu1410=)
c.787+5824T>G (n.787+5824T>G)
c.4251T>G (p.Leu1417=)
 gnomAD v4
8g.54628113G>ACA370981740RP1c.4231G>A (p.Asp1411Asn)
c.787+5825G>A (n.787+5825G>A)
c.4252G>A (p.Asp1418Asn)
8g.54628113G>CCA370981742RP1c.4231G>C (p.Asp1411His)
c.787+5825G>C (n.787+5825G>C)
c.4252G>C (p.Asp1418His)
8g.54628113G=CA1785189040RP1c.4231G= (p.Asp1411=)
c.787+5825G= (n.787+5825G=)
c.4252G= (p.Asp1418=)
8g.54628113G>TCA370981741RP1c.4231G>T (p.Asp1411Tyr)
c.787+5825G>T (n.787+5825G>T)
c.4252G>T (p.Asp1418Tyr)
 ClinVar dbSNP gnomAD v4
8g.54628114A=CA1785189041RP1c.4232A= (p.Asp1411=)
c.787+5826A= (n.787+5826A=)
c.4253A= (p.Asp1418=)
8g.54628114A>CCA370981743RP1c.4232A>C (p.Asp1411Ala)
c.787+5826A>C (n.787+5826A>C)
c.4253A>C (p.Asp1418Ala)
8g.54628114A>GCA370981744RP1c.4232A>G (p.Asp1411Gly)
c.787+5826A>G (n.787+5826A>G)
c.4253A>G (p.Asp1418Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54628114A>TCA370981745RP1c.4232A>T (p.Asp1411Val)
c.787+5826A>T (n.787+5826A>T)
c.4253A>T (p.Asp1418Val)
8g.54628115T>ACA370981746RP1c.4233T>A (p.Asp1411Glu)
c.787+5827T>A (n.787+5827T>A)
c.4254T>A (p.Asp1418Glu)
8g.54628115T>CCA461099908RP1c.4233T>C (p.Asp1411=)
c.787+5827T>C (n.787+5827T>C)
c.4254T>C (p.Asp1418=)
8g.54628115T>GCA370981747RP1c.4233T>G (p.Asp1411Glu)
c.787+5827T>G (n.787+5827T>G)
c.4254T>G (p.Asp1418Glu)
8g.54628116A>CCA370981748RP1c.4234A>C (p.Lys1412Gln)
c.787+5828A>C (n.787+5828A>C)
c.4255A>C (p.Lys1419Gln)
8g.54628116A>GCA370981749RP1c.4234A>G (p.Lys1412Glu)
c.787+5828A>G (n.787+5828A>G)
c.4255A>G (p.Lys1419Glu)
 gnomAD v4
8g.54628116A>TCA370981750RP1c.4234A>T (p.Lys1412Ter)
c.787+5828A>T (n.787+5828A>T)
c.4255A>T (p.Lys1419Ter)
8g.54628117A>CCA370981751RP1c.4235A>C (p.Lys1412Thr)
c.787+5829A>C (n.787+5829A>C)
c.4256A>C (p.Lys1419Thr)
8g.54628117A>GCA370981752RP1c.4235A>G (p.Lys1412Arg)
c.787+5829A>G (n.787+5829A>G)
c.4256A>G (p.Lys1419Arg)
8g.54628117A>TCA370981753RP1c.4235A>T (p.Lys1412Met)
c.787+5829A>T (n.787+5829A>T)
c.4256A>T (p.Lys1419Met)
8g.54628118G>ACA461099910RP1c.4236G>A (p.Lys1412=)
c.787+5830G>A (n.787+5830G>A)
c.4257G>A (p.Lys1419=)
8g.54628118G>CCA370981755RP1c.4236G>C (p.Lys1412Asn)
c.787+5830G>C (n.787+5830G>C)
c.4257G>C (p.Lys1419Asn)
8g.54628118G>TCA370981754RP1c.4236G>T (p.Lys1412Asn)
c.787+5830G>T (n.787+5830G>T)
c.4257G>T (p.Lys1419Asn)
8g.54628119A>CCA370981756RP1c.4237A>C (p.Lys1413Gln)
c.787+5831A>C (n.787+5831A>C)
c.4258A>C (p.Lys1420Gln)
8g.54628119A>GCA370981757RP1c.4237A>G (p.Lys1413Glu)
c.787+5831A>G (n.787+5831A>G)
c.4258A>G (p.Lys1420Glu)
8g.54628119A>TCA370981758RP1c.4237A>T (p.Lys1413Ter)
c.787+5831A>T (n.787+5831A>T)
c.4258A>T (p.Lys1420Ter)
8g.54628120A>CCA370981759RP1c.4238A>C (p.Lys1413Thr)
c.787+5832A>C (n.787+5832A>C)
c.4259A>C (p.Lys1420Thr)
8g.54628120A>GCA370981760RP1c.4238A>G (p.Lys1413Arg)
c.787+5832A>G (n.787+5832A>G)
c.4259A>G (p.Lys1420Arg)
8g.54628120A>TCA370981761RP1c.4238A>T (p.Lys1413Ile)
c.787+5832A>T (n.787+5832A>T)
c.4259A>T (p.Lys1420Ile)
8g.54628121A=CA1785189042RP1c.4239A= (p.Lys1413=)
c.787+5833A= (n.787+5833A=)
c.4260A= (p.Lys1420=)
8g.54628121A>CCA4751824RP1c.4239A>C (p.Lys1413Asn)
c.787+5833A>C (n.787+5833A>C)
c.4260A>C (p.Lys1420Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628121A>GCA461099919RP1c.4239A>G (p.Lys1413=)
c.787+5833A>G (n.787+5833A>G)
c.4260A>G (p.Lys1420=)
8g.54628121A>TCA370981762RP1c.4239A>T (p.Lys1413Asn)
c.787+5833A>T (n.787+5833A>T)
c.4260A>T (p.Lys1420Asn)
 gnomAD v4
8g.54628122C>ACA370981763RP1c.4240C>A (p.His1414Asn)
c.787+5834C>A (n.787+5834C>A)
c.4261C>A (p.His1421Asn)
8g.54628122C>GCA370981765RP1c.4240C>G (p.His1414Asp)
c.787+5834C>G (n.787+5834C>G)
c.4261C>G (p.His1421Asp)
8g.54628122C>TCA370981764RP1c.4240C>T (p.His1414Tyr)
c.787+5834C>T (n.787+5834C>T)
c.4261C>T (p.His1421Tyr)
8g.54628122_54628124delinsCATCA1785189043RP1c.4240_4242delinsCAT (p.His1414=)
c.787+5834_787+5836delinsCAT (n.787+5834_787+5836delinsCAT)
c.4261_4263delinsCAT (p.His1421=)
8g.54628123A=CA1785189044RP1c.4241A= (p.His1414=)
c.787+5835A= (n.787+5835A=)
c.4262A= (p.His1421=)
8g.54628123A>CCA370981766RP1c.4241A>C (p.His1414Pro)
c.787+5835A>C (n.787+5835A>C)
c.4262A>C (p.His1421Pro)
8g.54628123A>GCA4751826RP1c.4241A>G (p.His1414Arg)
c.787+5835A>G (n.787+5835A>G)
c.4262A>G (p.His1421Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628123A>TCA370981767RP1c.4241A>T (p.His1414Leu)
c.787+5835A>T (n.787+5835A>T)
c.4262A>T (p.His1421Leu)
8g.54628124_54628125delCA4751825RP1c.4242_4243del (p.His1414GlnfsTer5)
c.787+5836_787+5837del (n.787+5836_787+5837del)
c.4263_4264del (p.His1421GlnfsTer5)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628124T>ACA370981768RP1c.4242T>A (p.His1414Gln)
c.787+5836T>A (n.787+5836T>A)
c.4263T>A (p.His1421Gln)
8g.54628124T>CCA4751827RP1c.4242T>C (p.His1414=)
c.787+5836T>C (n.787+5836T>C)
c.4263T>C (p.His1421=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628124T>GCA370981769RP1c.4242T>G (p.His1414Gln)
c.787+5836T>G (n.787+5836T>G)
c.4263T>G (p.His1421Gln)
 COSMIC
8g.54628124T=CA1785189045RP1c.4242T= (p.His1414=)
c.787+5836T= (n.787+5836T=)
c.4263T= (p.His1421=)
8g.54628125A>CCA370981770RP1c.4243A>C (p.Ser1415Arg)
c.787+5837A>C (n.787+5837A>C)
c.4264A>C (p.Ser1422Arg)
8g.54628125A>GCA370981771RP1c.4243A>G (p.Ser1415Gly)
c.787+5837A>G (n.787+5837A>G)
c.4264A>G (p.Ser1422Gly)
8g.54628125A>TCA370981772RP1c.4243A>T (p.Ser1415Cys)
c.787+5837A>T (n.787+5837A>T)
c.4264A>T (p.Ser1422Cys)
8g.54628126G>ACA370981773RP1c.4244G>A (p.Ser1415Asn)
c.787+5838G>A (n.787+5838G>A)
c.4265G>A (p.Ser1422Asn)
 COSMIC
8g.54628126G>CCA370981774RP1c.4244G>C (p.Ser1415Thr)
c.787+5838G>C (n.787+5838G>C)
c.4265G>C (p.Ser1422Thr)
8g.54628126G>TCA370981775RP1c.4244G>T (p.Ser1415Ile)
c.787+5838G>T (n.787+5838G>T)
c.4265G>T (p.Ser1422Ile)
8g.54628127T>ACA370981776RP1c.4245T>A (p.Ser1415Arg)
c.787+5839T>A (n.787+5839T>A)
c.4266T>A (p.Ser1422Arg)
8g.54628127T>CCA461099935RP1c.4245T>C (p.Ser1415=)
c.787+5839T>C (n.787+5839T>C)
c.4266T>C (p.Ser1422=)
 COSMIC
8g.54628127T>GCA370981777RP1c.4245T>G (p.Ser1415Arg)
c.787+5839T>G (n.787+5839T>G)
c.4266T>G (p.Ser1422Arg)
8g.54628128T>ACA370981778RP1c.4246T>A (p.Ser1416Thr)
c.787+5840T>A (n.787+5840T>A)
c.4267T>A (p.Ser1423Thr)
8g.54628128T>CCA370981779RP1c.4246T>C (p.Ser1416Pro)
c.787+5840T>C (n.787+5840T>C)
c.4267T>C (p.Ser1423Pro)
8g.54628128T>GCA370981780RP1c.4246T>G (p.Ser1416Ala)
c.787+5840T>G (n.787+5840T>G)
c.4267T>G (p.Ser1423Ala)
8g.54628129C>ACA370981783RP1c.4247C>A (p.Ser1416Tyr)
c.787+5841C>A (n.787+5841C>A)
c.4268C>A (p.Ser1423Tyr)
8g.54628129C>GCA370981782RP1c.4247C>G (p.Ser1416Cys)
c.787+5841C>G (n.787+5841C>G)
c.4268C>G (p.Ser1423Cys)
8g.54628129C>TCA370981781RP1c.4247C>T (p.Ser1416Phe)
c.787+5841C>T (n.787+5841C>T)
c.4268C>T (p.Ser1423Phe)
 gnomAD v4
8g.54628130T>ACA461099943RP1c.4248T>A (p.Ser1416=)
c.787+5842T>A (n.787+5842T>A)
c.4269T>A (p.Ser1423=)
8g.54628130T>CCA461099945RP1c.4248T>C (p.Ser1416=)
c.787+5842T>C (n.787+5842T>C)
c.4269T>C (p.Ser1423=)
8g.54628130T>GCA461099944RP1c.4248T>G (p.Ser1416=)
c.787+5842T>G (n.787+5842T>G)
c.4269T>G (p.Ser1423=)
8g.54628131C>ACA370981784RP1c.4249C>A (p.Leu1417Ile)
c.787+5843C>A (n.787+5843C>A)
c.4270C>A (p.Leu1424Ile)
8g.54628131C=CA1785189046RP1c.4249C= (p.Leu1417=)
c.787+5843C= (n.787+5843C=)
c.4270C= (p.Leu1424=)
8g.54628131C>GCA4751828RP1c.4249C>G (p.Leu1417Val)
c.787+5843C>G (n.787+5843C>G)
c.4270C>G (p.Leu1424Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628131C>TCA461099946RP1c.4249C>T (p.Leu1417=)
c.787+5843C>T (n.787+5843C>T)
c.4270C>T (p.Leu1424=)
8g.54628132T>ACA370981785RP1c.4250T>A (p.Leu1417Gln)
c.787+5844T>A (n.787+5844T>A)
c.4271T>A (p.Leu1424Gln)
8g.54628132T>CCA4751829RP1c.4250T>C (p.Leu1417Pro)
c.787+5844T>C (n.787+5844T>C)
c.4271T>C (p.Leu1424Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628132T>GCA370981786RP1c.4250T>G (p.Leu1417Arg)
c.787+5844T>G (n.787+5844T>G)
c.4271T>G (p.Leu1424Arg)
8g.54628132T=CA1785189047RP1c.4250T= (p.Leu1417=)
c.787+5844T= (n.787+5844T=)
c.4271T= (p.Leu1424=)
8g.54628133A=CA1785189048RP1c.4251A= (p.Leu1417=)
c.787+5845A= (n.787+5845A=)
c.4272A= (p.Leu1424=)
8g.54628133A>CCA177181547RP1c.4251A>C (p.Leu1417=)
c.787+5845A>C (n.787+5845A>C)
c.4272A>C (p.Leu1424=)
 dbSNP COSMIC
8g.54628133A>GCA461099948RP1c.4251A>G (p.Leu1417=)
c.787+5845A>G (n.787+5845A>G)
c.4272A>G (p.Leu1424=)
8g.54628133A>TCA461099949RP1c.4251A>T (p.Leu1417=)
c.787+5845A>T (n.787+5845A>T)
c.4272A>T (p.Leu1424=)
8g.54628134G>ACA370981787RP1c.4252G>A (p.Asp1418Asn)
c.787+5846G>A (n.787+5846G>A)
c.4273G>A (p.Asp1425Asn)
8g.54628134G>CCA370981788RP1c.4252G>C (p.Asp1418His)
c.787+5846G>C (n.787+5846G>C)
c.4273G>C (p.Asp1425His)
8g.54628134G>TCA370981789RP1c.4252G>T (p.Asp1418Tyr)
c.787+5846G>T (n.787+5846G>T)
c.4273G>T (p.Asp1425Tyr)
8g.54628135A=CA1785189049RP1c.4253A= (p.Asp1418=)
c.787+5847A= (n.787+5847A=)
c.4274A= (p.Asp1425=)
8g.54628135A>CCA370981790RP1c.4253A>C (p.Asp1418Ala)
c.787+5847A>C (n.787+5847A>C)
c.4274A>C (p.Asp1425Ala)
 ClinVar
8g.54628135A>GCA4751830RP1c.4253A>G (p.Asp1418Gly)
c.787+5847A>G (n.787+5847A>G)
c.4274A>G (p.Asp1425Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628135A>TCA370981791RP1c.4253A>T (p.Asp1418Val)
c.787+5847A>T (n.787+5847A>T)
c.4274A>T (p.Asp1425Val)
8g.54628136T>ACA370981792RP1c.4254T>A (p.Asp1418Glu)
c.787+5848T>A (n.787+5848T>A)
c.4275T>A (p.Asp1425Glu)
8g.54628136T>CCA461099957RP1c.4254T>C (p.Asp1418=)
c.787+5848T>C (n.787+5848T>C)
c.4275T>C (p.Asp1425=)
8g.54628136T>GCA370981793RP1c.4254T>G (p.Asp1418Glu)
c.787+5848T>G (n.787+5848T>G)
c.4275T>G (p.Asp1425Glu)
8g.54628137G>ACA177181551RP1c.4255G>A (p.Asp1419Asn)
c.787+5849G>A (n.787+5849G>A)
c.4276G>A (p.Asp1426Asn)
 dbSNP
8g.54628137G>CCA370981795RP1c.4255G>C (p.Asp1419His)
c.787+5849G>C (n.787+5849G>C)
c.4276G>C (p.Asp1426His)
8g.54628137G=CA1785189050RP1c.4255G= (p.Asp1419=)
c.787+5849G= (n.787+5849G=)
c.4276G= (p.Asp1426=)
8g.54628137G>TCA370981794RP1c.4255G>T (p.Asp1419Tyr)
c.787+5849G>T (n.787+5849G>T)
c.4276G>T (p.Asp1426Tyr)
 gnomAD v4
8g.54628138A>CCA370981796RP1c.4256A>C (p.Asp1419Ala)
c.787+5850A>C (n.787+5850A>C)
c.4277A>C (p.Asp1426Ala)
8g.54628138A>GCA370981797RP1c.4256A>G (p.Asp1419Gly)
c.787+5850A>G (n.787+5850A>G)
c.4277A>G (p.Asp1426Gly)
8g.54628138A>TCA370981798RP1c.4256A>T (p.Asp1419Val)
c.787+5850A>T (n.787+5850A>T)
c.4277A>T (p.Asp1426Val)
8g.54628139T>ACA370981799RP1c.4257T>A (p.Asp1419Glu)
c.787+5851T>A (n.787+5851T>A)
c.4278T>A (p.Asp1426Glu)
8g.54628139T>CCA461099965RP1c.4257T>C (p.Asp1419=)
c.787+5851T>C (n.787+5851T>C)
c.4278T>C (p.Asp1426=)
8g.54628139T>GCA370981800RP1c.4257T>G (p.Asp1419Glu)
c.787+5851T>G (n.787+5851T>G)
c.4278T>G (p.Asp1426Glu)

Number of alleles fetched