Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.50185599T>ACA400190550COL1A1c.4298A>T (p.Lys1433Met)
c.4028A>T (p.Lys1343Met)
c.3380A>T (p.Lys1127Met)
c.4100A>T (p.Lys1367Met)
17g.50185599T>CCA400190555COL1A1c.4298A>G (p.Lys1433Arg)
c.4028A>G (p.Lys1343Arg)
c.3380A>G (p.Lys1127Arg)
c.4100A>G (p.Lys1367Arg)
17g.50185599T>GCA400190557COL1A1c.4298A>C (p.Lys1433Thr)
c.4028A>C (p.Lys1343Thr)
c.3380A>C (p.Lys1127Thr)
c.4100A>C (p.Lys1367Thr)
17g.50185600T>ACA400190558COL1A1c.4297A>T (p.Lys1433Ter)
c.4027A>T (p.Lys1343Ter)
c.3379A>T (p.Lys1127Ter)
c.4099A>T (p.Lys1367Ter)
17g.50185600T>CCA400190559COL1A1c.4297A>G (p.Lys1433Glu)
c.4027A>G (p.Lys1343Glu)
c.3379A>G (p.Lys1127Glu)
c.4099A>G (p.Lys1367Glu)
17g.50185600T>GCA400190561COL1A1c.4297A>C (p.Lys1433Gln)
c.4027A>C (p.Lys1343Gln)
c.3379A>C (p.Lys1127Gln)
c.4099A>C (p.Lys1367Gln)
17g.50185601G>ACA8644189COL1A1c.4296C>T (p.Thr1432=)
c.4026C>T (p.Thr1342=)
c.3378C>T (p.Thr1126=)
c.4098C>T (p.Thr1366=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185601G>CCA500991420COL1A1c.4296C>G (p.Thr1432=)
c.4026C>G (p.Thr1342=)
c.3378C>G (p.Thr1126=)
c.4098C>G (p.Thr1366=)
17g.50185601G=CA2263913733COL1A1c.4296C= (p.Thr1432=)
c.4026C= (p.Thr1342=)
c.3378C= (p.Thr1126=)
c.4098C= (p.Thr1366=)
17g.50185601G>TCA291542768COL1A1c.4296C>A (p.Thr1432=)
c.4026C>A (p.Thr1342=)
c.3378C>A (p.Thr1126=)
c.4098C>A (p.Thr1366=)
 dbSNP gnomAD v4
17g.50185602G>ACA400190569COL1A1c.4295C>T (p.Thr1432Ile)
c.4025C>T (p.Thr1342Ile)
c.3377C>T (p.Thr1126Ile)
c.4097C>T (p.Thr1366Ile)
17g.50185602G>CCA400190575COL1A1c.4295C>G (p.Thr1432Ser)
c.4025C>G (p.Thr1342Ser)
c.3377C>G (p.Thr1126Ser)
c.4097C>G (p.Thr1366Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.50185602G=CA2263913734COL1A1c.4295C= (p.Thr1432=)
c.4025C= (p.Thr1342=)
c.3377C= (p.Thr1126=)
c.4097C= (p.Thr1366=)
17g.50185602G>TCA400190579COL1A1c.4295C>A (p.Thr1432Asn)
c.4025C>A (p.Thr1342Asn)
c.3377C>A (p.Thr1126Asn)
c.4097C>A (p.Thr1366Asn)
 dbSNP gnomAD v4
17g.50185603T>ACA400190585COL1A1c.4294A>T (p.Thr1432Ser)
c.4024A>T (p.Thr1342Ser)
c.3376A>T (p.Thr1126Ser)
c.4096A>T (p.Thr1366Ser)
17g.50185603T>CCA8644190COL1A1c.4294A>G (p.Thr1432Ala)
c.4024A>G (p.Thr1342Ala)
c.3376A>G (p.Thr1126Ala)
c.4096A>G (p.Thr1366Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185603T>GCA400190583COL1A1c.4294A>C (p.Thr1432Pro)
c.4024A>C (p.Thr1342Pro)
c.3376A>C (p.Thr1126Pro)
c.4096A>C (p.Thr1366Pro)
17g.50185603T=CA2263913735COL1A1c.4294A= (p.Thr1432=)
c.4024A= (p.Thr1342=)
c.3376A= (p.Thr1126=)
c.4096A= (p.Thr1366=)
17g.50185604G>ACA500991426COL1A1c.4293C>T (p.Thr1431=)
c.4023C>T (p.Thr1341=)
c.3375C>T (p.Thr1125=)
c.4095C>T (p.Thr1365=)
 ClinVar
17g.50185604G>CCA500991427COL1A1c.4293C>G (p.Thr1431=)
c.4023C>G (p.Thr1341=)
c.3375C>G (p.Thr1125=)
c.4095C>G (p.Thr1365=)
17g.50185604G>TCA500991429COL1A1c.4293C>A (p.Thr1431=)
c.4023C>A (p.Thr1341=)
c.3375C>A (p.Thr1125=)
c.4095C>A (p.Thr1365=)
17g.50185605G>ACA400190590COL1A1c.4292C>T (p.Thr1431Ile)
c.4022C>T (p.Thr1341Ile)
c.3374C>T (p.Thr1125Ile)
c.4094C>T (p.Thr1365Ile)
 ClinVar dbSNP
17g.50185605G>CCA400190594COL1A1c.4292C>G (p.Thr1431Ser)
c.4022C>G (p.Thr1341Ser)
c.3374C>G (p.Thr1125Ser)
c.4094C>G (p.Thr1365Ser)
17g.50185605G=CA2263913736COL1A1c.4292C= (p.Thr1431=)
c.4022C= (p.Thr1341=)
c.3374C= (p.Thr1125=)
c.4094C= (p.Thr1365=)
17g.50185605G>TCA400190591COL1A1c.4292C>A (p.Thr1431Asn)
c.4022C>A (p.Thr1341Asn)
c.3374C>A (p.Thr1125Asn)
c.4094C>A (p.Thr1365Asn)
17g.50185606T>ACA400190596COL1A1c.4291A>T (p.Thr1431Ser)
c.4021A>T (p.Thr1341Ser)
c.3373A>T (p.Thr1125Ser)
c.4093A>T (p.Thr1365Ser)
17g.50185606T>CCA400190597COL1A1c.4291A>G (p.Thr1431Ala)
c.4021A>G (p.Thr1341Ala)
c.3373A>G (p.Thr1125Ala)
c.4093A>G (p.Thr1365Ala)
 gnomAD v4 COSMIC
17g.50185606T>GCA291542769COL1A1c.4291A>C (p.Thr1431Pro)
c.4021A>C (p.Thr1341Pro)
c.3373A>C (p.Thr1125Pro)
c.4093A>C (p.Thr1365Pro)
 dbSNP
17g.50185606T=CA2263913737COL1A1c.4291A= (p.Thr1431=)
c.4021A= (p.Thr1341=)
c.3373A= (p.Thr1125=)
c.4093A= (p.Thr1365=)
17g.50185609dupCA2695226422COL1A1c.4291dup (p.Thr1431AsnfsTer?)
c.4021dup (p.Thr1341AsnfsTer?)
c.3373dup (p.Thr1125AsnfsTer?)
c.4093dup (p.Thr1365AsnfsTer?)
17g.50185609delCA2499224705COL1A1c.4291del (p.Thr1431ProfsTer?)
c.4021del (p.Thr1341ProfsTer?)
c.3373del (p.Thr1125ProfsTer?)
c.4093del (p.Thr1365ProfsTer?)
 ClinVar dbSNP
17g.50185607T>ACA400190600COL1A1c.4290A>T (p.Lys1430Asn)
c.4020A>T (p.Lys1340Asn)
c.3372A>T (p.Lys1124Asn)
c.4092A>T (p.Lys1364Asn)
17g.50185607T>CCA500991435COL1A1c.4290A>G (p.Lys1430=)
c.4020A>G (p.Lys1340=)
c.3372A>G (p.Lys1124=)
c.4092A>G (p.Lys1364=)
17g.50185607T>GCA400190602COL1A1c.4290A>C (p.Lys1430Asn)
c.4020A>C (p.Lys1340Asn)
c.3372A>C (p.Lys1124Asn)
c.4092A>C (p.Lys1364Asn)
17g.50185608T>ACA400190604COL1A1c.4289A>T (p.Lys1430Ile)
c.4019A>T (p.Lys1340Ile)
c.3371A>T (p.Lys1124Ile)
c.4091A>T (p.Lys1364Ile)
17g.50185608T>CCA400190605COL1A1c.4289A>G (p.Lys1430Arg)
c.4019A>G (p.Lys1340Arg)
c.3371A>G (p.Lys1124Arg)
c.4091A>G (p.Lys1364Arg)
17g.50185608T>GCA400190607COL1A1c.4289A>C (p.Lys1430Thr)
c.4019A>C (p.Lys1340Thr)
c.3371A>C (p.Lys1124Thr)
c.4091A>C (p.Lys1364Thr)
17g.50185609T>ACA400190609COL1A1c.4288A>T (p.Lys1430Ter)
c.4018A>T (p.Lys1340Ter)
c.3370A>T (p.Lys1124Ter)
c.4090A>T (p.Lys1364Ter)
17g.50185609T>CCA400190612COL1A1c.4288A>G (p.Lys1430Glu)
c.4018A>G (p.Lys1340Glu)
c.3370A>G (p.Lys1124Glu)
c.4090A>G (p.Lys1364Glu)
17g.50185609T>GCA400190615COL1A1c.4288A>C (p.Lys1430Gln)
c.4018A>C (p.Lys1340Gln)
c.3370A>C (p.Lys1124Gln)
c.4090A>C (p.Lys1364Gln)
17g.50185610G>ACA500991440COL1A1c.4287C>T (p.Tyr1429=)
c.4017C>T (p.Tyr1339=)
c.3369C>T (p.Tyr1123=)
c.4089C>T (p.Tyr1363=)
17g.50185610G>CCA400190617COL1A1c.4287C>G (p.Tyr1429Ter)
c.4017C>G (p.Tyr1339Ter)
c.3369C>G (p.Tyr1123Ter)
c.4089C>G (p.Tyr1363Ter)
17g.50185610G>TCA400190621COL1A1c.4287C>A (p.Tyr1429Ter)
c.4017C>A (p.Tyr1339Ter)
c.3369C>A (p.Tyr1123Ter)
c.4089C>A (p.Tyr1363Ter)
17g.50185611T>ACA400190623COL1A1c.4286A>T (p.Tyr1429Phe)
c.4016A>T (p.Tyr1339Phe)
c.3368A>T (p.Tyr1123Phe)
c.4088A>T (p.Tyr1363Phe)
17g.50185611T>CCA400190625COL1A1c.4286A>G (p.Tyr1429Cys)
c.4016A>G (p.Tyr1339Cys)
c.3368A>G (p.Tyr1123Cys)
c.4088A>G (p.Tyr1363Cys)
 gnomAD v4
17g.50185611T>GCA400190626COL1A1c.4286A>C (p.Tyr1429Ser)
c.4016A>C (p.Tyr1339Ser)
c.3368A>C (p.Tyr1123Ser)
c.4088A>C (p.Tyr1363Ser)
17g.50185612A=CA2263913738COL1A1c.4285T= (p.Tyr1429=)
c.4015T= (p.Tyr1339=)
c.3367T= (p.Tyr1123=)
c.4087T= (p.Tyr1363=)
17g.50185612A>CCA400190634COL1A1c.4285T>G (p.Tyr1429Asp)
c.4015T>G (p.Tyr1339Asp)
c.3367T>G (p.Tyr1123Asp)
c.4087T>G (p.Tyr1363Asp)
17g.50185612A>GCA400190631COL1A1c.4285T>C (p.Tyr1429His)
c.4015T>C (p.Tyr1339His)
c.3367T>C (p.Tyr1123His)
c.4087T>C (p.Tyr1363His)
 ClinVar dbSNP gnomAD v4
17g.50185612A>TCA400190633COL1A1c.4285T>A (p.Tyr1429Asn)
c.4015T>A (p.Tyr1339Asn)
c.3367T>A (p.Tyr1123Asn)
c.4087T>A (p.Tyr1363Asn)
17g.50185613T>ACA400190637COL1A1c.4284A>T (p.Glu1428Asp)
c.4014A>T (p.Glu1338Asp)
c.3366A>T (p.Glu1122Asp)
c.4086A>T (p.Glu1362Asp)
17g.50185613T>CCA500991447COL1A1c.4284A>G (p.Glu1428=)
c.4014A>G (p.Glu1338=)
c.3366A>G (p.Glu1122=)
c.4086A>G (p.Glu1362=)
17g.50185613T>GCA400190641COL1A1c.4284A>C (p.Glu1428Asp)
c.4014A>C (p.Glu1338Asp)
c.3366A>C (p.Glu1122Asp)
c.4086A>C (p.Glu1362Asp)
17g.50185614T>ACA400190644COL1A1c.4283A>T (p.Glu1428Val)
c.4013A>T (p.Glu1338Val)
c.3365A>T (p.Glu1122Val)
c.4085A>T (p.Glu1362Val)
17g.50185614T>CCA400190645COL1A1c.4283A>G (p.Glu1428Gly)
c.4013A>G (p.Glu1338Gly)
c.3365A>G (p.Glu1122Gly)
c.4085A>G (p.Glu1362Gly)
17g.50185614T>GCA400190646COL1A1c.4283A>C (p.Glu1428Ala)
c.4013A>C (p.Glu1338Ala)
c.3365A>C (p.Glu1122Ala)
c.4085A>C (p.Glu1362Ala)
17g.50185617_50185620delCA2695226423COL1A1c.4280_4283del (p.Ile1427AsnfsTer?)
c.4010_4013del (p.Ile1337AsnfsTer?)
c.3362_3365del (p.Ile1121AsnfsTer?)
c.4082_4085del (p.Ile1361AsnfsTer?)
17g.50185615C>ACA400190650COL1A1c.4282G>T (p.Glu1428Ter)
c.4012G>T (p.Glu1338Ter)
c.3364G>T (p.Glu1122Ter)
c.4084G>T (p.Glu1362Ter)
17g.50185615C=CA2263913739COL1A1c.4282G= (p.Glu1428=)
c.4012G= (p.Glu1338=)
c.3364G= (p.Glu1122=)
c.4084G= (p.Glu1362=)
17g.50185615C>GCA400190653COL1A1c.4282G>C (p.Glu1428Gln)
c.4012G>C (p.Glu1338Gln)
c.3364G>C (p.Glu1122Gln)
c.4084G>C (p.Glu1362Gln)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.50185615C>TCA400190655COL1A1c.4282G>A (p.Glu1428Lys)
c.4012G>A (p.Glu1338Lys)
c.3364G>A (p.Glu1122Lys)
c.4084G>A (p.Glu1362Lys)
17g.50185616A=CA2263913740COL1A1c.4281T= (p.Ile1427=)
c.4011T= (p.Ile1337=)
c.3363T= (p.Ile1121=)
c.4083T= (p.Ile1361=)
17g.50185616A>CCA400190659COL1A1c.4281T>G (p.Ile1427Met)
c.4011T>G (p.Ile1337Met)
c.3363T>G (p.Ile1121Met)
c.4083T>G (p.Ile1361Met)
17g.50185616A>GCA8644191COL1A1c.4281T>C (p.Ile1427=)
c.4011T>C (p.Ile1337=)
c.3363T>C (p.Ile1121=)
c.4083T>C (p.Ile1361=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185616A>TCA500991451COL1A1c.4281T>A (p.Ile1427=)
c.4011T>A (p.Ile1337=)
c.3363T>A (p.Ile1121=)
c.4083T>A (p.Ile1361=)
17g.50185617A>CCA400190666COL1A1c.4280T>G (p.Ile1427Ser)
c.4010T>G (p.Ile1337Ser)
c.3362T>G (p.Ile1121Ser)
c.4082T>G (p.Ile1361Ser)
17g.50185617A>GCA400190669COL1A1c.4280T>C (p.Ile1427Thr)
c.4010T>C (p.Ile1337Thr)
c.3362T>C (p.Ile1121Thr)
c.4082T>C (p.Ile1361Thr)
17g.50185617A>TCA400190663COL1A1c.4280T>A (p.Ile1427Asn)
c.4010T>A (p.Ile1337Asn)
c.3362T>A (p.Ile1121Asn)
c.4082T>A (p.Ile1361Asn)
17g.50185618T>ACA400190672COL1A1c.4279A>T (p.Ile1427Phe)
c.4009A>T (p.Ile1337Phe)
c.3361A>T (p.Ile1121Phe)
c.4081A>T (p.Ile1361Phe)
17g.50185618T>CCA400190676COL1A1c.4279A>G (p.Ile1427Val)
c.4009A>G (p.Ile1337Val)
c.3361A>G (p.Ile1121Val)
c.4081A>G (p.Ile1361Val)
 gnomAD v4
17g.50185618T>GCA400190678COL1A1c.4279A>C (p.Ile1427Leu)
c.4009A>C (p.Ile1337Leu)
c.3361A>C (p.Ile1121Leu)
c.4081A>C (p.Ile1361Leu)
17g.50185619C>ACA500991458COL1A1c.4278G>T (p.Val1426=)
c.4008G>T (p.Val1336=)
c.3360G>T (p.Val1120=)
c.4080G>T (p.Val1360=)
17g.50185619C=CA2263913741COL1A1c.4278G= (p.Val1426=)
c.4008G= (p.Val1336=)
c.3360G= (p.Val1120=)
c.4080G= (p.Val1360=)
17g.50185619C>GCA500991457COL1A1c.4278G>C (p.Val1426=)
c.4008G>C (p.Val1336=)
c.3360G>C (p.Val1120=)
c.4080G>C (p.Val1360=)
 dbSNP
17g.50185619C>TCA500991455COL1A1c.4278G>A (p.Val1426=)
c.4008G>A (p.Val1336=)
c.3360G>A (p.Val1120=)
c.4080G>A (p.Val1360=)
17g.50185620A>CCA400190682COL1A1c.4277T>G (p.Val1426Gly)
c.4007T>G (p.Val1336Gly)
c.3359T>G (p.Val1120Gly)
c.4079T>G (p.Val1360Gly)
17g.50185620A>GCA400190688COL1A1c.4277T>C (p.Val1426Ala)
c.4007T>C (p.Val1336Ala)
c.3359T>C (p.Val1120Ala)
c.4079T>C (p.Val1360Ala)
17g.50185620A>TCA400190691COL1A1c.4277T>A (p.Val1426Glu)
c.4007T>A (p.Val1336Glu)
c.3359T>A (p.Val1120Glu)
c.4079T>A (p.Val1360Glu)
17g.50185621C>ACA400190694COL1A1c.4276G>T (p.Val1426Leu)
c.4006G>T (p.Val1336Leu)
c.3358G>T (p.Val1120Leu)
c.4078G>T (p.Val1360Leu)
17g.50185621C=CA2263913742COL1A1c.4276G= (p.Val1426=)
c.4006G= (p.Val1336=)
c.3358G= (p.Val1120=)
c.4078G= (p.Val1360=)
17g.50185621C>GCA400190697COL1A1c.4276G>C (p.Val1426Leu)
c.4006G>C (p.Val1336Leu)
c.3358G>C (p.Val1120Leu)
c.4078G>C (p.Val1360Leu)
17g.50185621C>TCA8644192COL1A1c.4276G>A (p.Val1426Met)
c.4006G>A (p.Val1336Met)
c.3358G>A (p.Val1120Met)
c.4078G>A (p.Val1360Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185622T>ACA291542770COL1A1c.4275A>T (p.Thr1425=)
c.4005A>T (p.Thr1335=)
c.3357A>T (p.Thr1119=)
c.4077A>T (p.Thr1359=)
 dbSNP
17g.50185622T>CCA500991463COL1A1c.4275A>G (p.Thr1425=)
c.4005A>G (p.Thr1335=)
c.3357A>G (p.Thr1119=)
c.4077A>G (p.Thr1359=)
 dbSNP gnomAD v2 gnomAD v4
17g.50185622T>GCA500991462COL1A1c.4275A>C (p.Thr1425=)
c.4005A>C (p.Thr1335=)
c.3357A>C (p.Thr1119=)
c.4077A>C (p.Thr1359=)
17g.50185622T=CA2263913743COL1A1c.4275A= (p.Thr1425=)
c.4005A= (p.Thr1335=)
c.3357A= (p.Thr1119=)
c.4077A= (p.Thr1359=)
17g.50185623G>ACA400190704COL1A1c.4274C>T (p.Thr1425Ile)
c.4004C>T (p.Thr1335Ile)
c.3356C>T (p.Thr1119Ile)
c.4076C>T (p.Thr1359Ile)
 ClinVar dbSNP
17g.50185623G>CCA400190706COL1A1c.4274C>G (p.Thr1425Arg)
c.4004C>G (p.Thr1335Arg)
c.3356C>G (p.Thr1119Arg)
c.4076C>G (p.Thr1359Arg)
17g.50185623G>TCA400190710COL1A1c.4274C>A (p.Thr1425Lys)
c.4004C>A (p.Thr1335Lys)
c.3356C>A (p.Thr1119Lys)
c.4076C>A (p.Thr1359Lys)
17g.50185624T>ACA400190713COL1A1c.4273A>T (p.Thr1425Ser)
c.4003A>T (p.Thr1335Ser)
c.3355A>T (p.Thr1119Ser)
c.4075A>T (p.Thr1359Ser)
17g.50185624T>CCA400190718COL1A1c.4273A>G (p.Thr1425Ala)
c.4003A>G (p.Thr1335Ala)
c.3355A>G (p.Thr1119Ala)
c.4075A>G (p.Thr1359Ala)
17g.50185624T>GCA400190715COL1A1c.4273A>C (p.Thr1425Pro)
c.4003A>C (p.Thr1335Pro)
c.3355A>C (p.Thr1119Pro)
c.4075A>C (p.Thr1359Pro)
17g.50185625C>ACA400190722COL1A1c.4272G>T (p.Lys1424Asn)
c.4002G>T (p.Lys1334Asn)
c.3354G>T (p.Lys1118Asn)
c.4074G>T (p.Lys1358Asn)
17g.50185625C=CA2263913744COL1A1c.4272G= (p.Lys1424=)
c.4002G= (p.Lys1334=)
c.3354G= (p.Lys1118=)
c.4074G= (p.Lys1358=)
17g.50185625C>GCA400190726COL1A1c.4272G>C (p.Lys1424Asn)
c.4002G>C (p.Lys1334Asn)
c.3354G>C (p.Lys1118Asn)
c.4074G>C (p.Lys1358Asn)
17g.50185625C>TCA500991467COL1A1c.4272G>A (p.Lys1424=)
c.4002G>A (p.Lys1334=)
c.3354G>A (p.Lys1118=)
c.4074G>A (p.Lys1358=)
 dbSNP gnomAD v2 gnomAD v4
17g.50185626T>ACA400190731COL1A1c.4271A>T (p.Lys1424Met)
c.4001A>T (p.Lys1334Met)
c.3353A>T (p.Lys1118Met)
c.4073A>T (p.Lys1358Met)
17g.50185626T>CCA400190734COL1A1c.4271A>G (p.Lys1424Arg)
c.4001A>G (p.Lys1334Arg)
c.3353A>G (p.Lys1118Arg)
c.4073A>G (p.Lys1358Arg)
 gnomAD v4
17g.50185626T>GCA400190738COL1A1c.4271A>C (p.Lys1424Thr)
c.4001A>C (p.Lys1334Thr)
c.3353A>C (p.Lys1118Thr)
c.4073A>C (p.Lys1358Thr)
17g.50185627T>ACA400190742COL1A1c.4270A>T (p.Lys1424Ter)
c.4000A>T (p.Lys1334Ter)
c.3352A>T (p.Lys1118Ter)
c.4072A>T (p.Lys1358Ter)
17g.50185627T>CCA400190746COL1A1c.4270A>G (p.Lys1424Glu)
c.4000A>G (p.Lys1334Glu)
c.3352A>G (p.Lys1118Glu)
c.4072A>G (p.Lys1358Glu)
 dbSNP gnomAD v3 gnomAD v4
17g.50185627T>GCA400190758COL1A1c.4270A>C (p.Lys1424Gln)
c.4000A>C (p.Lys1334Gln)
c.3352A>C (p.Lys1118Gln)
c.4072A>C (p.Lys1358Gln)
17g.50185627T=CA2263913745COL1A1c.4270A= (p.Lys1424=)
c.4000A= (p.Lys1334=)
c.3352A= (p.Lys1118=)
c.4072A= (p.Lys1358=)
17g.50185628G>ACA500991471COL1A1c.4269C>T (p.Gly1423=)
c.3999C>T (p.Gly1333=)
c.3351C>T (p.Gly1117=)
c.4071C>T (p.Gly1357=)
17g.50185628G>CCA500991473COL1A1c.4269C>G (p.Gly1423=)
c.3999C>G (p.Gly1333=)
c.3351C>G (p.Gly1117=)
c.4071C>G (p.Gly1357=)
17g.50185628G>TCA500991475COL1A1c.4269C>A (p.Gly1423=)
c.3999C>A (p.Gly1333=)
c.3351C>A (p.Gly1117=)
c.4071C>A (p.Gly1357=)
17g.50185629C>ACA400190761COL1A1c.4268G>T (p.Gly1423Val)
c.3998G>T (p.Gly1333Val)
c.3350G>T (p.Gly1117Val)
c.4070G>T (p.Gly1357Val)
17g.50185629C>GCA400190772COL1A1c.4268G>C (p.Gly1423Ala)
c.3998G>C (p.Gly1333Ala)
c.3350G>C (p.Gly1117Ala)
c.4070G>C (p.Gly1357Ala)
17g.50185629C>TCA400190774COL1A1c.4268G>A (p.Gly1423Asp)
c.3998G>A (p.Gly1333Asp)
c.3350G>A (p.Gly1117Asp)
c.4070G>A (p.Gly1357Asp)
 COSMIC
17g.50185630C>ACA400190789COL1A1c.4267G>T (p.Gly1423Cys)
c.3997G>T (p.Gly1333Cys)
c.3349G>T (p.Gly1117Cys)
c.4069G>T (p.Gly1357Cys)
17g.50185630C=CA2263913746COL1A1c.4267G= (p.Gly1423=)
c.3997G= (p.Gly1333=)
c.3349G= (p.Gly1117=)
c.4069G= (p.Gly1357=)
17g.50185630C>GCA400190792COL1A1c.4267G>C (p.Gly1423Arg)
c.3997G>C (p.Gly1333Arg)
c.3349G>C (p.Gly1117Arg)
c.4069G>C (p.Gly1357Arg)
17g.50185630C>TCA400190780COL1A1c.4267G>A (p.Gly1423Ser)
c.3997G>A (p.Gly1333Ser)
c.3349G>A (p.Gly1117Ser)
c.4069G>A (p.Gly1357Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.50185631C>ACA400190796COL1A1c.4266G>T (p.Trp1422Cys)
c.3996G>T (p.Trp1332Cys)
c.3348G>T (p.Trp1116Cys)
c.4068G>T (p.Trp1356Cys)
17g.50185631C>GCA400190800COL1A1c.4266G>C (p.Trp1422Cys)
c.3996G>C (p.Trp1332Cys)
c.3348G>C (p.Trp1116Cys)
c.4068G>C (p.Trp1356Cys)
17g.50185631C>TCA400190809COL1A1c.4266G>A (p.Trp1422Ter)
c.3996G>A (p.Trp1332Ter)
c.3348G>A (p.Trp1116Ter)
c.4068G>A (p.Trp1356Ter)
17g.50185632C>ACA400190815COL1A1c.4265G>T (p.Trp1422Leu)
c.3995G>T (p.Trp1332Leu)
c.3347G>T (p.Trp1116Leu)
c.4067G>T (p.Trp1356Leu)
17g.50185632C=CA2263913747COL1A1c.4265G= (p.Trp1422=)
c.3995G= (p.Trp1332=)
c.3347G= (p.Trp1116=)
c.4067G= (p.Trp1356=)
17g.50185632C>GCA400190819COL1A1c.4265G>C (p.Trp1422Ser)
c.3995G>C (p.Trp1332Ser)
c.3347G>C (p.Trp1116Ser)
c.4067G>C (p.Trp1356Ser)
 dbSNP
17g.50185632C>TCA400190823COL1A1c.4265G>A (p.Trp1422Ter)
c.3995G>A (p.Trp1332Ter)
c.3347G>A (p.Trp1116Ter)
c.4067G>A (p.Trp1356Ter)
17g.50185633A>CCA400190841COL1A1c.4264T>G (p.Trp1422Gly)
c.3994T>G (p.Trp1332Gly)
c.3346T>G (p.Trp1116Gly)
c.4066T>G (p.Trp1356Gly)
17g.50185633A>GCA400190829COL1A1c.4264T>C (p.Trp1422Arg)
c.3994T>C (p.Trp1332Arg)
c.3346T>C (p.Trp1116Arg)
c.4066T>C (p.Trp1356Arg)
17g.50185633A>TCA400190831COL1A1c.4264T>A (p.Trp1422Arg)
c.3994T>A (p.Trp1332Arg)
c.3346T>A (p.Trp1116Arg)
c.4066T>A (p.Trp1356Arg)
17g.50185634G>ACA291542771COL1A1c.4263C>T (p.Ala1421=)
c.3993C>T (p.Ala1331=)
c.3345C>T (p.Ala1115=)
c.4065C>T (p.Ala1355=)
 dbSNP gnomAD v3 gnomAD v4
17g.50185634G>CCA500991482COL1A1c.4263C>G (p.Ala1421=)
c.3993C>G (p.Ala1331=)
c.3345C>G (p.Ala1115=)
c.4065C>G (p.Ala1355=)
17g.50185634G=CA2263913748COL1A1c.4263C= (p.Ala1421=)
c.3993C= (p.Ala1331=)
c.3345C= (p.Ala1115=)
c.4065C= (p.Ala1355=)
17g.50185634G>TCA500991483COL1A1c.4263C>A (p.Ala1421=)
c.3993C>A (p.Ala1331=)
c.3345C>A (p.Ala1115=)
c.4065C>A (p.Ala1355=)
17g.50185635G>ACA400190844COL1A1c.4262C>T (p.Ala1421Val)
c.3992C>T (p.Ala1331Val)
c.3344C>T (p.Ala1115Val)
c.4064C>T (p.Ala1355Val)
 ClinVar dbSNP gnomAD v4
17g.50185635G>CCA8644193COL1A1c.4262C>G (p.Ala1421Gly)
c.3992C>G (p.Ala1331Gly)
c.3344C>G (p.Ala1115Gly)
c.4064C>G (p.Ala1355Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185635G=CA2263913749COL1A1c.4262C= (p.Ala1421=)
c.3992C= (p.Ala1331=)
c.3344C= (p.Ala1115=)
c.4064C= (p.Ala1355=)
17g.50185635G>TCA400190852COL1A1c.4262C>A (p.Ala1421Asp)
c.3992C>A (p.Ala1331Asp)
c.3344C>A (p.Ala1115Asp)
c.4064C>A (p.Ala1355Asp)
17g.50185636C>ACA400190856COL1A1c.4261G>T (p.Ala1421Ser)
c.3991G>T (p.Ala1331Ser)
c.3343G>T (p.Ala1115Ser)
c.4063G>T (p.Ala1355Ser)
17g.50185636C=CA2263913750COL1A1c.4261G= (p.Ala1421=)
c.3991G= (p.Ala1331=)
c.3343G= (p.Ala1115=)
c.4063G= (p.Ala1355=)
17g.50185636C>GCA400190860COL1A1c.4261G>C (p.Ala1421Pro)
c.3991G>C (p.Ala1331Pro)
c.3343G>C (p.Ala1115Pro)
c.4063G>C (p.Ala1355Pro)
17g.50185636C>TCA400190864COL1A1c.4261G>A (p.Ala1421Thr)
c.3991G>A (p.Ala1331Thr)
c.3343G>A (p.Ala1115Thr)
c.4063G>A (p.Ala1355Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.50185637T>ACA500991484COL1A1c.4260A>T (p.Gly1420=)
c.3990A>T (p.Gly1330=)
c.3342A>T (p.Gly1114=)
c.4062A>T (p.Gly1354=)
 ClinVar dbSNP
17g.50185637T>CCA500991486COL1A1c.4260A>G (p.Gly1420=)
c.3990A>G (p.Gly1330=)
c.3342A>G (p.Gly1114=)
c.4062A>G (p.Gly1354=)
17g.50185637T>GCA500991485COL1A1c.4260A>C (p.Gly1420=)
c.3990A>C (p.Gly1330=)
c.3342A>C (p.Gly1114=)
c.4062A>C (p.Gly1354=)
 dbSNP
17g.50185637T=CA2263913751COL1A1c.4260A= (p.Gly1420=)
c.3990A= (p.Gly1330=)
c.3342A= (p.Gly1114=)
c.4062A= (p.Gly1354=)
17g.50185638C>ACA400190869COL1A1c.4259G>T (p.Gly1420Val)
c.3989G>T (p.Gly1330Val)
c.3341G>T (p.Gly1114Val)
c.4061G>T (p.Gly1354Val)
17g.50185638C>GCA400190876COL1A1c.4259G>C (p.Gly1420Ala)
c.3989G>C (p.Gly1330Ala)
c.3341G>C (p.Gly1114Ala)
c.4061G>C (p.Gly1354Ala)
17g.50185638C>TCA400190873COL1A1c.4259G>A (p.Gly1420Glu)
c.3989G>A (p.Gly1330Glu)
c.3341G>A (p.Gly1114Glu)
c.4061G>A (p.Gly1354Glu)
17g.50185639C>ACA400190880COL1A1c.4258G>T (p.Gly1420Ter)
c.3988G>T (p.Gly1330Ter)
c.3340G>T (p.Gly1114Ter)
c.4060G>T (p.Gly1354Ter)
17g.50185639C=CA2263913752COL1A1c.4258G= (p.Gly1420=)
c.3988G= (p.Gly1330=)
c.3340G= (p.Gly1114=)
c.4060G= (p.Gly1354=)
17g.50185639C>GCA400190882COL1A1c.4258G>C (p.Gly1420Arg)
c.3988G>C (p.Gly1330Arg)
c.3340G>C (p.Gly1114Arg)
c.4060G>C (p.Gly1354Arg)
 dbSNP
17g.50185639C>TCA8644194COL1A1c.4258G>A (p.Gly1420Arg)
c.3988G>A (p.Gly1330Arg)
c.3340G>A (p.Gly1114Arg)
c.4060G>A (p.Gly1354Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185640G>ACA8644195COL1A1c.4257C>T (p.Thr1419=)
c.3987C>T (p.Thr1329=)
c.3339C>T (p.Thr1113=)
c.4059C>T (p.Thr1353=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185640G>CCA500991488COL1A1c.4257C>G (p.Thr1419=)
c.3987C>G (p.Thr1329=)
c.3339C>G (p.Thr1113=)
c.4059C>G (p.Thr1353=)
17g.50185640G=CA2263913753COL1A1c.4257C= (p.Thr1419=)
c.3987C= (p.Thr1329=)
c.3339C= (p.Thr1113=)
c.4059C= (p.Thr1353=)
17g.50185640G>TCA500991489COL1A1c.4257C>A (p.Thr1419=)
c.3987C>A (p.Thr1329=)
c.3339C>A (p.Thr1113=)
c.4059C>A (p.Thr1353=)
17g.50185641G>ACA400190896COL1A1c.4256C>T (p.Thr1419Ile)
c.3986C>T (p.Thr1329Ile)
c.3338C>T (p.Thr1113Ile)
c.4058C>T (p.Thr1353Ile)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.50185641G>CCA400190900COL1A1c.4256C>G (p.Thr1419Ser)
c.3986C>G (p.Thr1329Ser)
c.3338C>G (p.Thr1113Ser)
c.4058C>G (p.Thr1353Ser)
17g.50185641G=CA2263913754COL1A1c.4256C= (p.Thr1419=)
c.3986C= (p.Thr1329=)
c.3338C= (p.Thr1113=)
c.4058C= (p.Thr1353=)
17g.50185641G>TCA400190903COL1A1c.4256C>A (p.Thr1419Asn)
c.3986C>A (p.Thr1329Asn)
c.3338C>A (p.Thr1113Asn)
c.4058C>A (p.Thr1353Asn)
17g.50185642T>ACA400190909COL1A1c.4255A>T (p.Thr1419Ser)
c.3985A>T (p.Thr1329Ser)
c.3337A>T (p.Thr1113Ser)
c.4057A>T (p.Thr1353Ser)
17g.50185642T>CCA400190914COL1A1c.4255A>G (p.Thr1419Ala)
c.3985A>G (p.Thr1329Ala)
c.3337A>G (p.Thr1113Ala)
c.4057A>G (p.Thr1353Ala)
17g.50185642T>GCA400190918COL1A1c.4255A>C (p.Thr1419Pro)
c.3985A>C (p.Thr1329Pro)
c.3337A>C (p.Thr1113Pro)
c.4057A>C (p.Thr1353Pro)
 dbSNP
17g.50185642T=CA2263913755COL1A1c.4255A= (p.Thr1419=)
c.3985A= (p.Thr1329=)
c.3337A= (p.Thr1113=)
c.4057A= (p.Thr1353=)
17g.50185643G>ACA500991494COL1A1c.4254C>T (p.His1418=)
c.3984C>T (p.His1328=)
c.3336C>T (p.His1112=)
c.4056C>T (p.His1352=)
17g.50185643G>CCA400190932COL1A1c.4254C>G (p.His1418Gln)
c.3984C>G (p.His1328Gln)
c.3336C>G (p.His1112Gln)
c.4056C>G (p.His1352Gln)
17g.50185643G>TCA400190938COL1A1c.4254C>A (p.His1418Gln)
c.3984C>A (p.His1328Gln)
c.3336C>A (p.His1112Gln)
c.4056C>A (p.His1352Gln)
17g.50185644T>ACA400190943COL1A1c.4253A>T (p.His1418Leu)
c.3983A>T (p.His1328Leu)
c.3335A>T (p.His1112Leu)
c.4055A>T (p.His1352Leu)
17g.50185644T>CCA400190950COL1A1c.4253A>G (p.His1418Arg)
c.3983A>G (p.His1328Arg)
c.3335A>G (p.His1112Arg)
c.4055A>G (p.His1352Arg)
 ClinVar
17g.50185644T>GCA400190948COL1A1c.4253A>C (p.His1418Pro)
c.3983A>C (p.His1328Pro)
c.3335A>C (p.His1112Pro)
c.4055A>C (p.His1352Pro)
17g.50185645G>ACA400190955COL1A1c.4252C>T (p.His1418Tyr)
c.3982C>T (p.His1328Tyr)
c.3334C>T (p.His1112Tyr)
c.4054C>T (p.His1352Tyr)
 gnomAD v4
17g.50185645G>CCA400190958COL1A1c.4252C>G (p.His1418Asp)
c.3982C>G (p.His1328Asp)
c.3334C>G (p.His1112Asp)
c.4054C>G (p.His1352Asp)
17g.50185645G>TCA400190963COL1A1c.4252C>A (p.His1418Asn)
c.3982C>A (p.His1328Asn)
c.3334C>A (p.His1112Asn)
c.4054C>A (p.His1352Asn)
 COSMIC
17g.50185646A>CCA400190968COL1A1c.4251T>G (p.Ser1417Arg)
c.3981T>G (p.Ser1327Arg)
c.3333T>G (p.Ser1111Arg)
c.4053T>G (p.Ser1351Arg)
 gnomAD v3 gnomAD v4
17g.50185646A>GCA500991496COL1A1c.4251T>C (p.Ser1417=)
c.3981T>C (p.Ser1327=)
c.3333T>C (p.Ser1111=)
c.4053T>C (p.Ser1351=)
17g.50185646A>TCA400190973COL1A1c.4251T>A (p.Ser1417Arg)
c.3981T>A (p.Ser1327Arg)
c.3333T>A (p.Ser1111Arg)
c.4053T>A (p.Ser1351Arg)
17g.50185647C>ACA400190993COL1A1c.4250G>T (p.Ser1417Ile)
c.3980G>T (p.Ser1327Ile)
c.3332G>T (p.Ser1111Ile)
c.4052G>T (p.Ser1351Ile)
17g.50185647C>GCA400190980COL1A1c.4250G>C (p.Ser1417Thr)
c.3980G>C (p.Ser1327Thr)
c.3332G>C (p.Ser1111Thr)
c.4052G>C (p.Ser1351Thr)
17g.50185647C>TCA400190977COL1A1c.4250G>A (p.Ser1417Asn)
c.3980G>A (p.Ser1327Asn)
c.3332G>A (p.Ser1111Asn)
c.4052G>A (p.Ser1351Asn)
17g.50185648T>ACA400190996COL1A1c.4249A>T (p.Ser1417Cys)
c.3979A>T (p.Ser1327Cys)
c.3331A>T (p.Ser1111Cys)
c.4051A>T (p.Ser1351Cys)
17g.50185648T>CCA400191001COL1A1c.4249A>G (p.Ser1417Gly)
c.3979A>G (p.Ser1327Gly)
c.3331A>G (p.Ser1111Gly)
c.4051A>G (p.Ser1351Gly)
17g.50185648T>GCA400191005COL1A1c.4249A>C (p.Ser1417Arg)
c.3979A>C (p.Ser1327Arg)
c.3331A>C (p.Ser1111Arg)
c.4051A>C (p.Ser1351Arg)
17g.50185649C>ACA400191009COL1A1c.4249-1G>T (n.4249-1G>T)
c.3979-1G>T (n.3979-1G>T)
c.3331-1G>T (n.3331-1G>T)
c.4051-1G>T (n.4051-1G>T)
17g.50185649C>GCA400191014COL1A1c.4249-1G>C (n.4249-1G>C)
c.3979-1G>C (n.3979-1G>C)
c.3331-1G>C (n.3331-1G>C)
c.4051-1G>C (n.4051-1G>C)
17g.50185649C>TCA400191018COL1A1c.4249-1G>A (n.4249-1G>A)
c.3979-1G>A (n.3979-1G>A)
c.3331-1G>A (n.3331-1G>A)
c.4051-1G>A (n.4051-1G>A)
17g.50185650_50185778delCA2809756914COL1A1c.4248+1_4249-1del
c.3978+1_3979-1del
c.3330+1_3331-1del
c.4050+1_4051-1del
17g.50185649_50185650insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTCA2733839109COL1A1c.4249-2_4249-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.4249-2_4249-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC)
c.3979-2_3979-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.3979-2_3979-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC)
c.3331-2_3331-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.3331-2_3331-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC)
c.4051-2_4051-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.4051-2_4051-1insACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC)
 dbSNP
17g.50185649_50185650insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGCA2809756915COL1A1c.4249-2_4249-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.4249-2_4249-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC)
c.3979-2_3979-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.3979-2_3979-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC)
c.3331-2_3331-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.3331-2_3331-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC)
c.4051-2_4051-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.4051-2_4051-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC)
17g.50185649_50185650insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTCA2809756916COL1A1c.4249-2_4249-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.4249-2_4249-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC)
c.3979-2_3979-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.3979-2_3979-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC)
c.3331-2_3331-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.3331-2_3331-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC)
c.4051-2_4051-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC (n.4051-2_4051-1insAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC)
17g.50185650delCA2695226428COL1A1c.4249-2del (n.4249-2del)
c.3979-2del (n.3979-2del)
c.3331-2del (n.3331-2del)
c.4051-2del (n.4051-2del)
17g.50185650T>ACA400191022COL1A1c.4249-2A>T (n.4249-2A>T)
c.3979-2A>T (n.3979-2A>T)
c.3331-2A>T (n.3331-2A>T)
c.4051-2A>T (n.4051-2A>T)
17g.50185650T>CCA400191030COL1A1c.4249-2A>G (n.4249-2A>G)
c.3979-2A>G (n.3979-2A>G)
c.3331-2A>G (n.3331-2A>G)
c.4051-2A>G (n.4051-2A>G)
17g.50185650T>GCA291542772COL1A1c.4249-2A>C (n.4249-2A>C)
c.3979-2A>C (n.3979-2A>C)
c.3331-2A>C (n.3331-2A>C)
c.4051-2A>C (n.4051-2A>C)
 dbSNP
17g.50185650T=CA2263913756COL1A1c.4249-2A= (n.4249-2A=)
c.3979-2A= (n.3979-2A=)
c.3331-2A= (n.3331-2A=)
c.4051-2A= (n.4051-2A=)
17g.50185650_50185651delCA2695226427COL1A1c.4249-3_4249-2del (n.4249-3_4249-2del)
c.3979-3_3979-2del (n.3979-3_3979-2del)
c.3331-3_3331-2del (n.3331-3_3331-2del)
c.4051-3_4051-2del (n.4051-3_4051-2del)
17g.50185650_50185652delCA2695226426COL1A1c.4249-4_4249-2del (n.4249-4_4249-2del)
c.3979-4_3979-2del (n.3979-4_3979-2del)
c.3331-4_3331-2del (n.3331-4_3331-2del)
c.4051-4_4051-2del (n.4051-4_4051-2del)
17g.50185651G>ACA291542773COL1A1c.4249-3C>T (n.4249-3C>T)
c.3979-3C>T (n.3979-3C>T)
c.3331-3C>T (n.3331-3C>T)
c.4051-3C>T (n.4051-3C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50185651G=CA2263913757COL1A1c.4249-3C= (n.4249-3C=)
c.3979-3C= (n.3979-3C=)
c.3331-3C= (n.3331-3C=)
c.4051-3C= (n.4051-3C=)
17g.50185652G>CCA2638704486COL1A1c.4249-4C>G (n.4249-4C>G)
c.3979-4C>G (n.3979-4C>G)
c.3331-4C>G (n.3331-4C>G)
c.4051-4C>G (n.4051-4C>G)
 gnomAD v4
17g.50185652G=CA2263913758COL1A1c.4249-4C= (n.4249-4C=)
c.3979-4C= (n.3979-4C=)
c.3331-4C= (n.3331-4C=)
c.4051-4C= (n.4051-4C=)
17g.50185652G>TCA626689035COL1A1c.4249-4C>A (n.4249-4C>A)
c.3979-4C>A (n.3979-4C>A)
c.3331-4C>A (n.3331-4C>A)
c.4051-4C>A (n.4051-4C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.50185653G>ACA2263913760COL1A1c.4249-5C>T (n.4249-5C>T)
c.3979-5C>T (n.3979-5C>T)
c.3331-5C>T (n.3331-5C>T)
c.4051-5C>T (n.4051-5C>T)
 dbSNP gnomAD v4
17g.50185653G=CA2263913759COL1A1c.4249-5C= (n.4249-5C=)
c.3979-5C= (n.3979-5C=)
c.3331-5C= (n.3331-5C=)
c.4051-5C= (n.4051-5C=)
17g.50185654G>ACA984452276COL1A1c.4249-6C>T (n.4249-6C>T)
c.3979-6C>T (n.3979-6C>T)
c.3331-6C>T (n.3331-6C>T)
c.4051-6C>T (n.4051-6C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.50185654G=CA2263913761COL1A1c.4249-6C= (n.4249-6C=)
c.3979-6C= (n.3979-6C=)
c.3331-6C= (n.3331-6C=)
c.4051-6C= (n.4051-6C=)
17g.50185655T>CCA2809756919COL1A1c.4249-7A>G (n.4249-7A>G)
c.3979-7A>G (n.3979-7A>G)
c.3331-7A>G (n.3331-7A>G)
c.4051-7A>G (n.4051-7A>G)
17g.50185655T>GCA8644196COL1A1c.4249-7A>C (n.4249-7A>C)
c.3979-7A>C (n.3979-7A>C)
c.3331-7A>C (n.3331-7A>C)
c.4051-7A>C (n.4051-7A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185655T=CA2263913762COL1A1c.4249-7A= (n.4249-7A=)
c.3979-7A= (n.3979-7A=)
c.3331-7A= (n.3331-7A=)
c.4051-7A= (n.4051-7A=)
17g.50185655_50185656delinsTGCA2263913763COL1A1c.4249-8_4249-7delinsCA (n.4249-8_4249-7delinsCA)
c.3979-8_3979-7delinsCA (n.3979-8_3979-7delinsCA)
c.3331-8_3331-7delinsCA (n.3331-8_3331-7delinsCA)
c.4051-8_4051-7delinsCA (n.4051-8_4051-7delinsCA)
17g.50185656G>ACA626689036COL1A1c.4249-8C>T (n.4249-8C>T)
c.3979-8C>T (n.3979-8C>T)
c.3331-8C>T (n.3331-8C>T)
c.4051-8C>T (n.4051-8C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.50185656G=CA2263913765COL1A1c.4249-8C= (n.4249-8C=)
c.3979-8C= (n.3979-8C=)
c.3331-8C= (n.3331-8C=)
c.4051-8C= (n.4051-8C=)
17g.50185659delCA2263913764COL1A1c.4249-8del (n.4249-8del)
c.3979-8del (n.3979-8del)
c.3331-8del (n.3331-8del)
c.4051-8del (n.4051-8del)
 dbSNP gnomAD v4
17g.50185661_50185679delCA2695226429COL1A1c.4249-26_4249-8del (n.4249-26_4249-8del)
c.3979-26_3979-8del (n.3979-26_3979-8del)
c.3331-26_3331-8del (n.3331-26_3331-8del)
c.4051-26_4051-8del (n.4051-26_4051-8del)
17g.50185657G>ACA2638704492COL1A1c.4249-9C>T (n.4249-9C>T)
c.3979-9C>T (n.3979-9C>T)
c.3331-9C>T (n.3331-9C>T)
c.4051-9C>T (n.4051-9C>T)
 gnomAD v4
17g.50185658G>ACA2638704493COL1A1c.4249-10C>T (n.4249-10C>T)
c.3979-10C>T (n.3979-10C>T)
c.3331-10C>T (n.3331-10C>T)
c.4051-10C>T (n.4051-10C>T)
 gnomAD v4
17g.50185658G=CA2263913766COL1A1c.4249-10C= (n.4249-10C=)
c.3979-10C= (n.3979-10C=)
c.3331-10C= (n.3331-10C=)
c.4051-10C= (n.4051-10C=)
17g.50185658G>TCA626689037COL1A1c.4249-10C>A (n.4249-10C>A)
c.3979-10C>A (n.3979-10C>A)
c.3331-10C>A (n.3331-10C>A)
c.4051-10C>A (n.4051-10C>A)
 dbSNP gnomAD v2
17g.50185659G>ACA2263913768COL1A1c.4249-11C>T (n.4249-11C>T)
c.3979-11C>T (n.3979-11C>T)
c.3331-11C>T (n.3331-11C>T)
c.4051-11C>T (n.4051-11C>T)
 dbSNP
17g.50185659G=CA2263913767COL1A1c.4249-11C= (n.4249-11C=)
c.3979-11C= (n.3979-11C=)
c.3331-11C= (n.3331-11C=)
c.4051-11C= (n.4051-11C=)
17g.50185659G>TCA2638704495COL1A1c.4249-11C>A (n.4249-11C>A)
c.3979-11C>A (n.3979-11C>A)
c.3331-11C>A (n.3331-11C>A)
c.4051-11C>A (n.4051-11C>A)
 gnomAD v4
17g.50185660C>ACA2581314524COL1A1c.4249-12G>T (n.4249-12G>T)
c.3979-12G>T (n.3979-12G>T)
c.3331-12G>T (n.3331-12G>T)
c.4051-12G>T (n.4051-12G>T)
 gnomAD v4
17g.50185660C=CA2263913769COL1A1c.4249-12G= (n.4249-12G=)
c.3979-12G= (n.3979-12G=)
c.3331-12G= (n.3331-12G=)
c.4051-12G= (n.4051-12G=)
17g.50185660C>GCA772780249COL1A1c.4249-12G>C (n.4249-12G>C)
c.3979-12G>C (n.3979-12G>C)
c.3331-12G>C (n.3331-12G>C)
c.4051-12G>C (n.4051-12G>C)
 dbSNP gnomAD v3 gnomAD v4
17g.50185660C>TCA203157COL1A1c.4249-12G>A (n.4249-12G>A)
c.3979-12G>A (n.3979-12G>A)
c.3331-12G>A (n.3331-12G>A)
c.4051-12G>A (n.4051-12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185661G>ACA291542774COL1A1c.4249-13C>T (n.4249-13C>T)
c.3979-13C>T (n.3979-13C>T)
c.3331-13C>T (n.3331-13C>T)
c.4051-13C>T (n.4051-13C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50185661G=CA2263913770COL1A1c.4249-13C= (n.4249-13C=)
c.3979-13C= (n.3979-13C=)
c.3331-13C= (n.3331-13C=)
c.4051-13C= (n.4051-13C=)
17g.50185661G>TCA2638704502COL1A1c.4249-13C>A (n.4249-13C>A)
c.3979-13C>A (n.3979-13C>A)
c.3331-13C>A (n.3331-13C>A)
c.4051-13C>A (n.4051-13C>A)
 gnomAD v4
17g.50185662G>ACA8644197COL1A1c.4249-14C>T (n.4249-14C>T)
c.3979-14C>T (n.3979-14C>T)
c.3331-14C>T (n.3331-14C>T)
c.4051-14C>T (n.4051-14C>T)
 ClinVar dbSNP ExAC gnomAD v2
17g.50185662G=CA2263913771COL1A1c.4249-14C= (n.4249-14C=)
c.3979-14C= (n.3979-14C=)
c.3331-14C= (n.3331-14C=)
c.4051-14C= (n.4051-14C=)
17g.50185663A=CA2263913772COL1A1c.4249-15T= (n.4249-15T=)
c.3979-15T= (n.3979-15T=)
c.3331-15T= (n.3331-15T=)
c.4051-15T= (n.4051-15T=)
17g.50185663A>GCA2263913773COL1A1c.4249-15T>C (n.4249-15T>C)
c.3979-15T>C (n.3979-15T>C)
c.3331-15T>C (n.3331-15T>C)
c.4051-15T>C (n.4051-15T>C)
 dbSNP
17g.50185664G>TCA2638704505COL1A1c.4249-16C>A (n.4249-16C>A)
c.3979-16C>A (n.3979-16C>A)
c.3331-16C>A (n.3331-16C>A)
c.4051-16C>A (n.4051-16C>A)
 gnomAD v4
17g.50185668A=CA2263913774COL1A1c.4249-20T= (n.4249-20T=)
c.3979-20T= (n.3979-20T=)
c.3331-20T= (n.3331-20T=)
c.4051-20T= (n.4051-20T=)
17g.50185668A>TCA291542775COL1A1c.4249-20T>A (n.4249-20T>A)
c.3979-20T>A (n.3979-20T>A)
c.3331-20T>A (n.3331-20T>A)
c.4051-20T>A (n.4051-20T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50185669C>ACA626689038COL1A1c.4249-21G>T (n.4249-21G>T)
c.3979-21G>T (n.3979-21G>T)
c.3331-21G>T (n.3331-21G>T)
c.4051-21G>T (n.4051-21G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.50185669C=CA2263913775COL1A1c.4249-21G= (n.4249-21G=)
c.3979-21G= (n.3979-21G=)
c.3331-21G= (n.3331-21G=)
c.4051-21G= (n.4051-21G=)
17g.50185669C>TCA8644198COL1A1c.4249-21G>A (n.4249-21G>A)
c.3979-21G>A (n.3979-21G>A)
c.3331-21G>A (n.3331-21G>A)
c.4051-21G>A (n.4051-21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185670G>ACA8644199COL1A1c.4249-22C>T (n.4249-22C>T)
c.3979-22C>T (n.3979-22C>T)
c.3331-22C>T (n.3331-22C>T)
c.4051-22C>T (n.4051-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185670G>CCA984452292COL1A1c.4249-22C>G (n.4249-22C>G)
c.3979-22C>G (n.3979-22C>G)
c.3331-22C>G (n.3331-22C>G)
c.4051-22C>G (n.4051-22C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.50185670G=CA2263913776COL1A1c.4249-22C= (n.4249-22C=)
c.3979-22C= (n.3979-22C=)
c.3331-22C= (n.3331-22C=)
c.4051-22C= (n.4051-22C=)
17g.50185672delCA2638704511COL1A1c.4249-22del (n.4249-22del)
c.3979-22del (n.3979-22del)
c.3331-22del (n.3331-22del)
c.4051-22del (n.4051-22del)
 gnomAD v4
17g.50185673A=CA2263913777COL1A1c.4249-25T= (n.4249-25T=)
c.3979-25T= (n.3979-25T=)
c.3331-25T= (n.3331-25T=)
c.4051-25T= (n.4051-25T=)
17g.50185673A>TCA8644200COL1A1c.4249-25T>A (n.4249-25T>A)
c.3979-25T>A (n.3979-25T>A)
c.3331-25T>A (n.3331-25T>A)
c.4051-25T>A (n.4051-25T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185678dupCA2638704526COL1A1c.4249-26dup (n.4249-26dup)
c.3979-26dup (n.3979-26dup)
c.3331-26dup (n.3331-26dup)
c.4051-26dup (n.4051-26dup)
 gnomAD v4
17g.50185678delCA2638704530COL1A1c.4249-26del (n.4249-26del)
c.3979-26del (n.3979-26del)
c.3331-26del (n.3331-26del)
c.4051-26del (n.4051-26del)
 gnomAD v4
17g.50185675G>CCA8644201COL1A1c.4249-27C>G (n.4249-27C>G)
c.3979-27C>G (n.3979-27C>G)
c.3331-27C>G (n.3331-27C>G)
c.4051-27C>G (n.4051-27C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185675G=CA2263913778COL1A1c.4249-27C= (n.4249-27C=)
c.3979-27C= (n.3979-27C=)
c.3331-27C= (n.3331-27C=)
c.4051-27C= (n.4051-27C=)
17g.50185676G>ACA8644202COL1A1c.4249-28C>T (n.4249-28C>T)
c.3979-28C>T (n.3979-28C>T)
c.3331-28C>T (n.3331-28C>T)
c.4051-28C>T (n.4051-28C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185676G=CA2263913779COL1A1c.4249-28C= (n.4249-28C=)
c.3979-28C= (n.3979-28C=)
c.3331-28C= (n.3331-28C=)
c.4051-28C= (n.4051-28C=)
17g.50185676G>TCA2576316973COL1A1c.4249-28C>A (n.4249-28C>A)
c.3979-28C>A (n.3979-28C>A)
c.3331-28C>A (n.3331-28C>A)
c.4051-28C>A (n.4051-28C>A)
 gnomAD v4
17g.50185677G>ACA626689039COL1A1c.4249-29C>T (n.4249-29C>T)
c.3979-29C>T (n.3979-29C>T)
c.3331-29C>T (n.3331-29C>T)
c.4051-29C>T (n.4051-29C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.50185677G=CA2263913780COL1A1c.4249-29C= (n.4249-29C=)
c.3979-29C= (n.3979-29C=)
c.3331-29C= (n.3331-29C=)
c.4051-29C= (n.4051-29C=)
17g.50185677G>TCA2809756926COL1A1c.4249-29C>A (n.4249-29C>A)
c.3979-29C>A (n.3979-29C>A)
c.3331-29C>A (n.3331-29C>A)
c.4051-29C>A (n.4051-29C>A)
17g.50185678G>ACA2263913782COL1A1c.4249-30C>T (n.4249-30C>T)
c.3979-30C>T (n.3979-30C>T)
c.3331-30C>T (n.3331-30C>T)
c.4051-30C>T (n.4051-30C>T)
 dbSNP gnomAD v4
17g.50185678G=CA2263913781COL1A1c.4249-30C= (n.4249-30C=)
c.3979-30C= (n.3979-30C=)
c.3331-30C= (n.3331-30C=)
c.4051-30C= (n.4051-30C=)
17g.50185680A=CA2263913783COL1A1c.4249-32T= (n.4249-32T=)
c.3979-32T= (n.3979-32T=)
c.3331-32T= (n.3331-32T=)
c.4051-32T= (n.4051-32T=)
17g.50185680A>GCA626689040COL1A1c.4249-32T>C (n.4249-32T>C)
c.3979-32T>C (n.3979-32T>C)
c.3331-32T>C (n.3331-32T>C)
c.4051-32T>C (n.4051-32T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.50185680A>TCA8644203COL1A1c.4249-32T>A (n.4249-32T>A)
c.3979-32T>A (n.3979-32T>A)
c.3331-32T>A (n.3331-32T>A)
c.4051-32T>A (n.4051-32T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185681T>CCA2263913785COL1A1c.4249-33A>G (n.4249-33A>G)
c.3979-33A>G (n.3979-33A>G)
c.3331-33A>G (n.3331-33A>G)
c.4051-33A>G (n.4051-33A>G)
 dbSNP
17g.50185681T=CA2263913784COL1A1c.4249-33A= (n.4249-33A=)
c.3979-33A= (n.3979-33A=)
c.3331-33A= (n.3331-33A=)
c.4051-33A= (n.4051-33A=)
17g.50185685C=CA2263913786COL1A1c.4249-37G= (n.4249-37G=)
c.3979-37G= (n.3979-37G=)
c.3331-37G= (n.3331-37G=)
c.4051-37G= (n.4051-37G=)
17g.50185685C>GCA8644204COL1A1c.4249-37G>C (n.4249-37G>C)
c.3979-37G>C (n.3979-37G>C)
c.3331-37G>C (n.3331-37G>C)
c.4051-37G>C (n.4051-37G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185685C>TCA2638704537COL1A1c.4249-37G>A (n.4249-37G>A)
c.3979-37G>A (n.3979-37G>A)
c.3331-37G>A (n.3331-37G>A)
c.4051-37G>A (n.4051-37G>A)
 gnomAD v4
17g.50185686_50185687delCA2638704536COL1A1c.4249-38_4249-37del (n.4249-38_4249-37del)
c.3979-38_3979-37del (n.3979-38_3979-37del)
c.3331-38_3331-37del (n.3331-38_3331-37del)
c.4051-38_4051-37del (n.4051-38_4051-37del)
 gnomAD v4
17g.50185686A=CA2263913787COL1A1c.4249-38T= (n.4249-38T=)
c.3979-38T= (n.3979-38T=)
c.3331-38T= (n.3331-38T=)
c.4051-38T= (n.4051-38T=)
17g.50185686A>CCA626689041COL1A1c.4249-38T>G (n.4249-38T>G)
c.3979-38T>G (n.3979-38T>G)
c.3331-38T>G (n.3331-38T>G)
c.4051-38T>G (n.4051-38T>G)
 dbSNP gnomAD v2 gnomAD v4
17g.50185687C>ACA2638704542COL1A1c.4249-39G>T (n.4249-39G>T)
c.3979-39G>T (n.3979-39G>T)
c.3331-39G>T (n.3331-39G>T)
c.4051-39G>T (n.4051-39G>T)
 gnomAD v4
17g.50185687C=CA2263913788COL1A1c.4249-39G= (n.4249-39G=)
c.3979-39G= (n.3979-39G=)
c.3331-39G= (n.3331-39G=)
c.4051-39G= (n.4051-39G=)
17g.50185687C>GCA2638704543COL1A1c.4249-39G>C (n.4249-39G>C)
c.3979-39G>C (n.3979-39G>C)
c.3331-39G>C (n.3331-39G>C)
c.4051-39G>C (n.4051-39G>C)
 gnomAD v4
17g.50185687C>TCA626689042COL1A1c.4249-39G>A (n.4249-39G>A)
c.3979-39G>A (n.3979-39G>A)
c.3331-39G>A (n.3331-39G>A)
c.4051-39G>A (n.4051-39G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50185688G>ACA8644205COL1A1c.4249-40C>T (n.4249-40C>T)
c.3979-40C>T (n.3979-40C>T)
c.3331-40C>T (n.3331-40C>T)
c.4051-40C>T (n.4051-40C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185688G=CA2263913790COL1A1c.4249-40C= (n.4249-40C=)
c.3979-40C= (n.3979-40C=)
c.3331-40C= (n.3331-40C=)
c.4051-40C= (n.4051-40C=)
17g.50185688G>TCA2263913789COL1A1c.4249-40C>A (n.4249-40C>A)
c.3979-40C>A (n.3979-40C>A)
c.3331-40C>A (n.3331-40C>A)
c.4051-40C>A (n.4051-40C>A)
 dbSNP
17g.50185689T>GCA2638704547COL1A1c.4249-41A>C (n.4249-41A>C)
c.3979-41A>C (n.3979-41A>C)
c.3331-41A>C (n.3331-41A>C)
c.4051-41A>C (n.4051-41A>C)
 gnomAD v4
17g.50185689_50185690delinsTGCA2263913791COL1A1c.4249-42_4249-41delinsCA (n.4249-42_4249-41delinsCA)
c.3979-42_3979-41delinsCA (n.3979-42_3979-41delinsCA)
c.3331-42_3331-41delinsCA (n.3331-42_3331-41delinsCA)
c.4051-42_4051-41delinsCA (n.4051-42_4051-41delinsCA)
17g.50185690G>ACA2576316974COL1A1c.4249-42C>T (n.4249-42C>T)
c.3979-42C>T (n.3979-42C>T)
c.3331-42C>T (n.3331-42C>T)
c.4051-42C>T (n.4051-42C>T)
17g.50185690G>TCA2638704553COL1A1c.4249-42C>A (n.4249-42C>A)
c.3979-42C>A (n.3979-42C>A)
c.3331-42C>A (n.3331-42C>A)
c.4051-42C>A (n.4051-42C>A)
 gnomAD v4
17g.50185692delCA626689043COL1A1c.4249-42del (n.4249-42del)
c.3979-42del (n.3979-42del)
c.3331-42del (n.3331-42del)
c.4051-42del (n.4051-42del)
 dbSNP gnomAD v2 gnomAD v4
17g.50185691G>ACA2263913793COL1A1c.4249-43C>T (n.4249-43C>T)
c.3979-43C>T (n.3979-43C>T)
c.3331-43C>T (n.3331-43C>T)
c.4051-43C>T (n.4051-43C>T)
 dbSNP
17g.50185691G>CCA626689044COL1A1c.4249-43C>G (n.4249-43C>G)
c.3979-43C>G (n.3979-43C>G)
c.3331-43C>G (n.3331-43C>G)
c.4051-43C>G (n.4051-43C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.50185691G=CA2263913792COL1A1c.4249-43C= (n.4249-43C=)
c.3979-43C= (n.3979-43C=)
c.3331-43C= (n.3331-43C=)
c.4051-43C= (n.4051-43C=)
17g.50185692G>CCA2638704555COL1A1c.4249-44C>G (n.4249-44C>G)
c.3979-44C>G (n.3979-44C>G)
c.3331-44C>G (n.3331-44C>G)
c.4051-44C>G (n.4051-44C>G)
 gnomAD v4
17g.50185694G>ACA626689045COL1A1c.4249-46C>T (n.4249-46C>T)
c.3979-46C>T (n.3979-46C>T)
c.3331-46C>T (n.3331-46C>T)
c.4051-46C>T (n.4051-46C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.50185694G=CA2263913794COL1A1c.4249-46C= (n.4249-46C=)
c.3979-46C= (n.3979-46C=)
c.3331-46C= (n.3331-46C=)
c.4051-46C= (n.4051-46C=)
17g.50185694G>TCA2638704558COL1A1c.4249-46C>A (n.4249-46C>A)
c.3979-46C>A (n.3979-46C>A)
c.3331-46C>A (n.3331-46C>A)
c.4051-46C>A (n.4051-46C>A)
 gnomAD v4
17g.50185695T>ACA2576316975COL1A1c.4249-47A>T (n.4249-47A>T)
c.3979-47A>T (n.3979-47A>T)
c.3331-47A>T (n.3331-47A>T)
c.4051-47A>T (n.4051-47A>T)
 gnomAD v4
17g.50185695T>GCA984452301COL1A1c.4249-47A>C (n.4249-47A>C)
c.3979-47A>C (n.3979-47A>C)
c.3331-47A>C (n.3331-47A>C)
c.4051-47A>C (n.4051-47A>C)
 gnomAD v3 gnomAD v4
17g.50185696G>CCA2263913796COL1A1c.4249-48C>G (n.4249-48C>G)
c.3979-48C>G (n.3979-48C>G)
c.3331-48C>G (n.3331-48C>G)
c.4051-48C>G (n.4051-48C>G)
 dbSNP gnomAD v4
17g.50185696G=CA2263913795COL1A1c.4249-48C= (n.4249-48C=)
c.3979-48C= (n.3979-48C=)
c.3331-48C= (n.3331-48C=)
c.4051-48C= (n.4051-48C=)
17g.50185698T>CCA8644206COL1A1c.4249-50A>G (n.4249-50A>G)
c.3979-50A>G (n.3979-50A>G)
c.3331-50A>G (n.3331-50A>G)
c.4051-50A>G (n.4051-50A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185698T=CA2263913797COL1A1c.4249-50A= (n.4249-50A=)
c.3979-50A= (n.3979-50A=)
c.3331-50A= (n.3331-50A=)
c.4051-50A= (n.4051-50A=)
17g.50185699G>ACA8644207COL1A1c.4249-51C>T (n.4249-51C>T)
c.3979-51C>T (n.3979-51C>T)
c.3331-51C>T (n.3331-51C>T)
c.4051-51C>T (n.4051-51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185699G=CA2263913798COL1A1c.4249-51C= (n.4249-51C=)
c.3979-51C= (n.3979-51C=)
c.3331-51C= (n.3331-51C=)
c.4051-51C= (n.4051-51C=)
17g.50185699G>TCA2638704568COL1A1c.4249-51C>A (n.4249-51C>A)
c.3979-51C>A (n.3979-51C>A)
c.3331-51C>A (n.3331-51C>A)
c.4051-51C>A (n.4051-51C>A)
 gnomAD v4

Number of alleles fetched