Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.50185597T>A | CA291542767 | COL1A1 | c.4300A>T (p.Thr1434Ser) c.4030A>T (p.Thr1344Ser) c.3382A>T (p.Thr1128Ser) c.4102A>T (p.Thr1368Ser) | dbSNP |
17 | g.50185597T>C | CA400190542 | COL1A1 | c.4300A>G (p.Thr1434Ala) c.4030A>G (p.Thr1344Ala) c.3382A>G (p.Thr1128Ala) c.4102A>G (p.Thr1368Ala) | |
17 | g.50185597T>G | CA400190541 | COL1A1 | c.4300A>C (p.Thr1434Pro) c.4030A>C (p.Thr1344Pro) c.3382A>C (p.Thr1128Pro) c.4102A>C (p.Thr1368Pro) | dbSNP |
17 | g.50185597T= | CA2263913732 | COL1A1 | c.4300A= (p.Thr1434=) c.4030A= (p.Thr1344=) c.3382A= (p.Thr1128=) c.4102A= (p.Thr1368=) | |
17 | g.50185598C>A | CA400190544 | COL1A1 | c.4299G>T (p.Lys1433Asn) c.4029G>T (p.Lys1343Asn) c.3381G>T (p.Lys1127Asn) c.4101G>T (p.Lys1367Asn) | |
17 | g.50185598C>G | CA400190548 | COL1A1 | c.4299G>C (p.Lys1433Asn) c.4029G>C (p.Lys1343Asn) c.3381G>C (p.Lys1127Asn) c.4101G>C (p.Lys1367Asn) | |
17 | g.50185598C>T | CA500991417 | COL1A1 | c.4299G>A (p.Lys1433=) c.4029G>A (p.Lys1343=) c.3381G>A (p.Lys1127=) c.4101G>A (p.Lys1367=) | |
17 | g.50185599T>A | CA400190550 | COL1A1 | c.4298A>T (p.Lys1433Met) c.4028A>T (p.Lys1343Met) c.3380A>T (p.Lys1127Met) c.4100A>T (p.Lys1367Met) | |
17 | g.50185599T>C | CA400190555 | COL1A1 | c.4298A>G (p.Lys1433Arg) c.4028A>G (p.Lys1343Arg) c.3380A>G (p.Lys1127Arg) c.4100A>G (p.Lys1367Arg) | |
17 | g.50185599T>G | CA400190557 | COL1A1 | c.4298A>C (p.Lys1433Thr) c.4028A>C (p.Lys1343Thr) c.3380A>C (p.Lys1127Thr) c.4100A>C (p.Lys1367Thr) | |
17 | g.50185600T>A | CA400190558 | COL1A1 | c.4297A>T (p.Lys1433Ter) c.4027A>T (p.Lys1343Ter) c.3379A>T (p.Lys1127Ter) c.4099A>T (p.Lys1367Ter) | |
17 | g.50185600T>C | CA400190559 | COL1A1 | c.4297A>G (p.Lys1433Glu) c.4027A>G (p.Lys1343Glu) c.3379A>G (p.Lys1127Glu) c.4099A>G (p.Lys1367Glu) | |
17 | g.50185600T>G | CA400190561 | COL1A1 | c.4297A>C (p.Lys1433Gln) c.4027A>C (p.Lys1343Gln) c.3379A>C (p.Lys1127Gln) c.4099A>C (p.Lys1367Gln) | |
17 | g.50185601G>A | CA8644189 | COL1A1 | c.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 |
17 | g.50185601G>C | CA500991420 | COL1A1 | c.4296C>G (p.Thr1432=) c.4026C>G (p.Thr1342=) c.3378C>G (p.Thr1126=) c.4098C>G (p.Thr1366=) | |
17 | g.50185601G= | CA2263913733 | COL1A1 | c.4296C= (p.Thr1432=) c.4026C= (p.Thr1342=) c.3378C= (p.Thr1126=) c.4098C= (p.Thr1366=) | |
17 | g.50185601G>T | CA291542768 | COL1A1 | c.4296C>A (p.Thr1432=) c.4026C>A (p.Thr1342=) c.3378C>A (p.Thr1126=) c.4098C>A (p.Thr1366=) | dbSNP gnomAD v4 |
17 | g.50185602G>A | CA400190569 | COL1A1 | c.4295C>T (p.Thr1432Ile) c.4025C>T (p.Thr1342Ile) c.3377C>T (p.Thr1126Ile) c.4097C>T (p.Thr1366Ile) | |
17 | g.50185602G>C | CA400190575 | COL1A1 | c.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 |
17 | g.50185602G= | CA2263913734 | COL1A1 | c.4295C= (p.Thr1432=) c.4025C= (p.Thr1342=) c.3377C= (p.Thr1126=) c.4097C= (p.Thr1366=) | |
17 | g.50185602G>T | CA400190579 | COL1A1 | c.4295C>A (p.Thr1432Asn) c.4025C>A (p.Thr1342Asn) c.3377C>A (p.Thr1126Asn) c.4097C>A (p.Thr1366Asn) | dbSNP gnomAD v4 |
17 | g.50185603T>A | CA400190585 | COL1A1 | c.4294A>T (p.Thr1432Ser) c.4024A>T (p.Thr1342Ser) c.3376A>T (p.Thr1126Ser) c.4096A>T (p.Thr1366Ser) | |
17 | g.50185603T>C | CA8644190 | COL1A1 | c.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 |
17 | g.50185603T>G | CA400190583 | COL1A1 | c.4294A>C (p.Thr1432Pro) c.4024A>C (p.Thr1342Pro) c.3376A>C (p.Thr1126Pro) c.4096A>C (p.Thr1366Pro) | |
17 | g.50185603T= | CA2263913735 | COL1A1 | c.4294A= (p.Thr1432=) c.4024A= (p.Thr1342=) c.3376A= (p.Thr1126=) c.4096A= (p.Thr1366=) | |
17 | g.50185604G>A | CA500991426 | COL1A1 | c.4293C>T (p.Thr1431=) c.4023C>T (p.Thr1341=) c.3375C>T (p.Thr1125=) c.4095C>T (p.Thr1365=) | ClinVar |
17 | g.50185604G>C | CA500991427 | COL1A1 | c.4293C>G (p.Thr1431=) c.4023C>G (p.Thr1341=) c.3375C>G (p.Thr1125=) c.4095C>G (p.Thr1365=) | |
17 | g.50185604G>T | CA500991429 | COL1A1 | c.4293C>A (p.Thr1431=) c.4023C>A (p.Thr1341=) c.3375C>A (p.Thr1125=) c.4095C>A (p.Thr1365=) | |
17 | g.50185605G>A | CA400190590 | COL1A1 | c.4292C>T (p.Thr1431Ile) c.4022C>T (p.Thr1341Ile) c.3374C>T (p.Thr1125Ile) c.4094C>T (p.Thr1365Ile) | ClinVar dbSNP |
17 | g.50185605G>C | CA400190594 | COL1A1 | c.4292C>G (p.Thr1431Ser) c.4022C>G (p.Thr1341Ser) c.3374C>G (p.Thr1125Ser) c.4094C>G (p.Thr1365Ser) | |
17 | g.50185605G= | CA2263913736 | COL1A1 | c.4292C= (p.Thr1431=) c.4022C= (p.Thr1341=) c.3374C= (p.Thr1125=) c.4094C= (p.Thr1365=) | |
17 | g.50185605G>T | CA400190591 | COL1A1 | c.4292C>A (p.Thr1431Asn) c.4022C>A (p.Thr1341Asn) c.3374C>A (p.Thr1125Asn) c.4094C>A (p.Thr1365Asn) | |
17 | g.50185606T>A | CA400190596 | COL1A1 | c.4291A>T (p.Thr1431Ser) c.4021A>T (p.Thr1341Ser) c.3373A>T (p.Thr1125Ser) c.4093A>T (p.Thr1365Ser) | |
17 | g.50185606T>C | CA400190597 | COL1A1 | c.4291A>G (p.Thr1431Ala) c.4021A>G (p.Thr1341Ala) c.3373A>G (p.Thr1125Ala) c.4093A>G (p.Thr1365Ala) | gnomAD v4 COSMIC |
17 | g.50185606T>G | CA291542769 | COL1A1 | c.4291A>C (p.Thr1431Pro) c.4021A>C (p.Thr1341Pro) c.3373A>C (p.Thr1125Pro) c.4093A>C (p.Thr1365Pro) | dbSNP |
17 | g.50185606T= | CA2263913737 | COL1A1 | c.4291A= (p.Thr1431=) c.4021A= (p.Thr1341=) c.3373A= (p.Thr1125=) c.4093A= (p.Thr1365=) | |
17 | g.50185609dup | CA2695226422 | COL1A1 | c.4291dup (p.Thr1431AsnfsTer?) c.4021dup (p.Thr1341AsnfsTer?) c.3373dup (p.Thr1125AsnfsTer?) c.4093dup (p.Thr1365AsnfsTer?) | |
17 | g.50185609del | CA2499224705 | COL1A1 | c.4291del (p.Thr1431ProfsTer?) c.4021del (p.Thr1341ProfsTer?) c.3373del (p.Thr1125ProfsTer?) c.4093del (p.Thr1365ProfsTer?) | ClinVar dbSNP |
17 | g.50185607T>A | CA400190600 | COL1A1 | c.4290A>T (p.Lys1430Asn) c.4020A>T (p.Lys1340Asn) c.3372A>T (p.Lys1124Asn) c.4092A>T (p.Lys1364Asn) | |
17 | g.50185607T>C | CA500991435 | COL1A1 | c.4290A>G (p.Lys1430=) c.4020A>G (p.Lys1340=) c.3372A>G (p.Lys1124=) c.4092A>G (p.Lys1364=) | |
17 | g.50185607T>G | CA400190602 | COL1A1 | c.4290A>C (p.Lys1430Asn) c.4020A>C (p.Lys1340Asn) c.3372A>C (p.Lys1124Asn) c.4092A>C (p.Lys1364Asn) | |
17 | g.50185608T>A | CA400190604 | COL1A1 | c.4289A>T (p.Lys1430Ile) c.4019A>T (p.Lys1340Ile) c.3371A>T (p.Lys1124Ile) c.4091A>T (p.Lys1364Ile) | |
17 | g.50185608T>C | CA400190605 | COL1A1 | c.4289A>G (p.Lys1430Arg) c.4019A>G (p.Lys1340Arg) c.3371A>G (p.Lys1124Arg) c.4091A>G (p.Lys1364Arg) | |
17 | g.50185608T>G | CA400190607 | COL1A1 | c.4289A>C (p.Lys1430Thr) c.4019A>C (p.Lys1340Thr) c.3371A>C (p.Lys1124Thr) c.4091A>C (p.Lys1364Thr) | |
17 | g.50185609T>A | CA400190609 | COL1A1 | c.4288A>T (p.Lys1430Ter) c.4018A>T (p.Lys1340Ter) c.3370A>T (p.Lys1124Ter) c.4090A>T (p.Lys1364Ter) | |
17 | g.50185609T>C | CA400190612 | COL1A1 | c.4288A>G (p.Lys1430Glu) c.4018A>G (p.Lys1340Glu) c.3370A>G (p.Lys1124Glu) c.4090A>G (p.Lys1364Glu) | |
17 | g.50185609T>G | CA400190615 | COL1A1 | c.4288A>C (p.Lys1430Gln) c.4018A>C (p.Lys1340Gln) c.3370A>C (p.Lys1124Gln) c.4090A>C (p.Lys1364Gln) | |
17 | g.50185610G>A | CA500991440 | COL1A1 | c.4287C>T (p.Tyr1429=) c.4017C>T (p.Tyr1339=) c.3369C>T (p.Tyr1123=) c.4089C>T (p.Tyr1363=) | |
17 | g.50185610G>C | CA400190617 | COL1A1 | c.4287C>G (p.Tyr1429Ter) c.4017C>G (p.Tyr1339Ter) c.3369C>G (p.Tyr1123Ter) c.4089C>G (p.Tyr1363Ter) | |
17 | g.50185610G>T | CA400190621 | COL1A1 | c.4287C>A (p.Tyr1429Ter) c.4017C>A (p.Tyr1339Ter) c.3369C>A (p.Tyr1123Ter) c.4089C>A (p.Tyr1363Ter) | |
17 | g.50185611T>A | CA400190623 | COL1A1 | c.4286A>T (p.Tyr1429Phe) c.4016A>T (p.Tyr1339Phe) c.3368A>T (p.Tyr1123Phe) c.4088A>T (p.Tyr1363Phe) | |
17 | g.50185611T>C | CA400190625 | COL1A1 | c.4286A>G (p.Tyr1429Cys) c.4016A>G (p.Tyr1339Cys) c.3368A>G (p.Tyr1123Cys) c.4088A>G (p.Tyr1363Cys) | gnomAD v4 |
17 | g.50185611T>G | CA400190626 | COL1A1 | c.4286A>C (p.Tyr1429Ser) c.4016A>C (p.Tyr1339Ser) c.3368A>C (p.Tyr1123Ser) c.4088A>C (p.Tyr1363Ser) | |
17 | g.50185612A= | CA2263913738 | COL1A1 | c.4285T= (p.Tyr1429=) c.4015T= (p.Tyr1339=) c.3367T= (p.Tyr1123=) c.4087T= (p.Tyr1363=) | |
17 | g.50185612A>C | CA400190634 | COL1A1 | c.4285T>G (p.Tyr1429Asp) c.4015T>G (p.Tyr1339Asp) c.3367T>G (p.Tyr1123Asp) c.4087T>G (p.Tyr1363Asp) | |
17 | g.50185612A>G | CA400190631 | COL1A1 | c.4285T>C (p.Tyr1429His) c.4015T>C (p.Tyr1339His) c.3367T>C (p.Tyr1123His) c.4087T>C (p.Tyr1363His) | ClinVar dbSNP gnomAD v4 |
17 | g.50185612A>T | CA400190633 | COL1A1 | c.4285T>A (p.Tyr1429Asn) c.4015T>A (p.Tyr1339Asn) c.3367T>A (p.Tyr1123Asn) c.4087T>A (p.Tyr1363Asn) | |
17 | g.50185613T>A | CA400190637 | COL1A1 | c.4284A>T (p.Glu1428Asp) c.4014A>T (p.Glu1338Asp) c.3366A>T (p.Glu1122Asp) c.4086A>T (p.Glu1362Asp) | |
17 | g.50185613T>C | CA500991447 | COL1A1 | c.4284A>G (p.Glu1428=) c.4014A>G (p.Glu1338=) c.3366A>G (p.Glu1122=) c.4086A>G (p.Glu1362=) | |
17 | g.50185613T>G | CA400190641 | COL1A1 | c.4284A>C (p.Glu1428Asp) c.4014A>C (p.Glu1338Asp) c.3366A>C (p.Glu1122Asp) c.4086A>C (p.Glu1362Asp) | |
17 | g.50185614T>A | CA400190644 | COL1A1 | c.4283A>T (p.Glu1428Val) c.4013A>T (p.Glu1338Val) c.3365A>T (p.Glu1122Val) c.4085A>T (p.Glu1362Val) | |
17 | g.50185614T>C | CA400190645 | COL1A1 | c.4283A>G (p.Glu1428Gly) c.4013A>G (p.Glu1338Gly) c.3365A>G (p.Glu1122Gly) c.4085A>G (p.Glu1362Gly) | |
17 | g.50185614T>G | CA400190646 | COL1A1 | c.4283A>C (p.Glu1428Ala) c.4013A>C (p.Glu1338Ala) c.3365A>C (p.Glu1122Ala) c.4085A>C (p.Glu1362Ala) | |
17 | g.50185617_50185620del | CA2695226423 | COL1A1 | c.4280_4283del (p.Ile1427AsnfsTer?) c.4010_4013del (p.Ile1337AsnfsTer?) c.3362_3365del (p.Ile1121AsnfsTer?) c.4082_4085del (p.Ile1361AsnfsTer?) | |
17 | g.50185615C>A | CA400190650 | COL1A1 | c.4282G>T (p.Glu1428Ter) c.4012G>T (p.Glu1338Ter) c.3364G>T (p.Glu1122Ter) c.4084G>T (p.Glu1362Ter) | |
17 | g.50185615C= | CA2263913739 | COL1A1 | c.4282G= (p.Glu1428=) c.4012G= (p.Glu1338=) c.3364G= (p.Glu1122=) c.4084G= (p.Glu1362=) | |
17 | g.50185615C>G | CA400190653 | COL1A1 | c.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 |
17 | g.50185615C>T | CA400190655 | COL1A1 | c.4282G>A (p.Glu1428Lys) c.4012G>A (p.Glu1338Lys) c.3364G>A (p.Glu1122Lys) c.4084G>A (p.Glu1362Lys) | |
17 | g.50185616A= | CA2263913740 | COL1A1 | c.4281T= (p.Ile1427=) c.4011T= (p.Ile1337=) c.3363T= (p.Ile1121=) c.4083T= (p.Ile1361=) | |
17 | g.50185616A>C | CA400190659 | COL1A1 | c.4281T>G (p.Ile1427Met) c.4011T>G (p.Ile1337Met) c.3363T>G (p.Ile1121Met) c.4083T>G (p.Ile1361Met) | |
17 | g.50185616A>G | CA8644191 | COL1A1 | c.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 |
17 | g.50185616A>T | CA500991451 | COL1A1 | c.4281T>A (p.Ile1427=) c.4011T>A (p.Ile1337=) c.3363T>A (p.Ile1121=) c.4083T>A (p.Ile1361=) | |
17 | g.50185617A>C | CA400190666 | COL1A1 | c.4280T>G (p.Ile1427Ser) c.4010T>G (p.Ile1337Ser) c.3362T>G (p.Ile1121Ser) c.4082T>G (p.Ile1361Ser) | |
17 | g.50185617A>G | CA400190669 | COL1A1 | c.4280T>C (p.Ile1427Thr) c.4010T>C (p.Ile1337Thr) c.3362T>C (p.Ile1121Thr) c.4082T>C (p.Ile1361Thr) | |
17 | g.50185617A>T | CA400190663 | COL1A1 | c.4280T>A (p.Ile1427Asn) c.4010T>A (p.Ile1337Asn) c.3362T>A (p.Ile1121Asn) c.4082T>A (p.Ile1361Asn) | |
17 | g.50185618T>A | CA400190672 | COL1A1 | c.4279A>T (p.Ile1427Phe) c.4009A>T (p.Ile1337Phe) c.3361A>T (p.Ile1121Phe) c.4081A>T (p.Ile1361Phe) | |
17 | g.50185618T>C | CA400190676 | COL1A1 | c.4279A>G (p.Ile1427Val) c.4009A>G (p.Ile1337Val) c.3361A>G (p.Ile1121Val) c.4081A>G (p.Ile1361Val) | gnomAD v4 |
17 | g.50185618T>G | CA400190678 | COL1A1 | c.4279A>C (p.Ile1427Leu) c.4009A>C (p.Ile1337Leu) c.3361A>C (p.Ile1121Leu) c.4081A>C (p.Ile1361Leu) | |
17 | g.50185619C>A | CA500991458 | COL1A1 | c.4278G>T (p.Val1426=) c.4008G>T (p.Val1336=) c.3360G>T (p.Val1120=) c.4080G>T (p.Val1360=) | |
17 | g.50185619C= | CA2263913741 | COL1A1 | c.4278G= (p.Val1426=) c.4008G= (p.Val1336=) c.3360G= (p.Val1120=) c.4080G= (p.Val1360=) | |
17 | g.50185619C>G | CA500991457 | COL1A1 | c.4278G>C (p.Val1426=) c.4008G>C (p.Val1336=) c.3360G>C (p.Val1120=) c.4080G>C (p.Val1360=) | dbSNP |
17 | g.50185619C>T | CA500991455 | COL1A1 | c.4278G>A (p.Val1426=) c.4008G>A (p.Val1336=) c.3360G>A (p.Val1120=) c.4080G>A (p.Val1360=) | |
17 | g.50185620A>C | CA400190682 | COL1A1 | c.4277T>G (p.Val1426Gly) c.4007T>G (p.Val1336Gly) c.3359T>G (p.Val1120Gly) c.4079T>G (p.Val1360Gly) | |
17 | g.50185620A>G | CA400190688 | COL1A1 | c.4277T>C (p.Val1426Ala) c.4007T>C (p.Val1336Ala) c.3359T>C (p.Val1120Ala) c.4079T>C (p.Val1360Ala) | |
17 | g.50185620A>T | CA400190691 | COL1A1 | c.4277T>A (p.Val1426Glu) c.4007T>A (p.Val1336Glu) c.3359T>A (p.Val1120Glu) c.4079T>A (p.Val1360Glu) | |
17 | g.50185621C>A | CA400190694 | COL1A1 | c.4276G>T (p.Val1426Leu) c.4006G>T (p.Val1336Leu) c.3358G>T (p.Val1120Leu) c.4078G>T (p.Val1360Leu) | |
17 | g.50185621C= | CA2263913742 | COL1A1 | c.4276G= (p.Val1426=) c.4006G= (p.Val1336=) c.3358G= (p.Val1120=) c.4078G= (p.Val1360=) | |
17 | g.50185621C>G | CA400190697 | COL1A1 | c.4276G>C (p.Val1426Leu) c.4006G>C (p.Val1336Leu) c.3358G>C (p.Val1120Leu) c.4078G>C (p.Val1360Leu) | |
17 | g.50185621C>T | CA8644192 | COL1A1 | c.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 |
17 | g.50185622T>A | CA291542770 | COL1A1 | c.4275A>T (p.Thr1425=) c.4005A>T (p.Thr1335=) c.3357A>T (p.Thr1119=) c.4077A>T (p.Thr1359=) | dbSNP |
17 | g.50185622T>C | CA500991463 | COL1A1 | c.4275A>G (p.Thr1425=) c.4005A>G (p.Thr1335=) c.3357A>G (p.Thr1119=) c.4077A>G (p.Thr1359=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50185622T>G | CA500991462 | COL1A1 | c.4275A>C (p.Thr1425=) c.4005A>C (p.Thr1335=) c.3357A>C (p.Thr1119=) c.4077A>C (p.Thr1359=) | |
17 | g.50185622T= | CA2263913743 | COL1A1 | c.4275A= (p.Thr1425=) c.4005A= (p.Thr1335=) c.3357A= (p.Thr1119=) c.4077A= (p.Thr1359=) | |
17 | g.50185623G>A | CA400190704 | COL1A1 | c.4274C>T (p.Thr1425Ile) c.4004C>T (p.Thr1335Ile) c.3356C>T (p.Thr1119Ile) c.4076C>T (p.Thr1359Ile) | ClinVar dbSNP |
17 | g.50185623G>C | CA400190706 | COL1A1 | c.4274C>G (p.Thr1425Arg) c.4004C>G (p.Thr1335Arg) c.3356C>G (p.Thr1119Arg) c.4076C>G (p.Thr1359Arg) | |
17 | g.50185623G>T | CA400190710 | COL1A1 | c.4274C>A (p.Thr1425Lys) c.4004C>A (p.Thr1335Lys) c.3356C>A (p.Thr1119Lys) c.4076C>A (p.Thr1359Lys) | |
17 | g.50185624T>A | CA400190713 | COL1A1 | c.4273A>T (p.Thr1425Ser) c.4003A>T (p.Thr1335Ser) c.3355A>T (p.Thr1119Ser) c.4075A>T (p.Thr1359Ser) | |
17 | g.50185624T>C | CA400190718 | COL1A1 | c.4273A>G (p.Thr1425Ala) c.4003A>G (p.Thr1335Ala) c.3355A>G (p.Thr1119Ala) c.4075A>G (p.Thr1359Ala) | |
17 | g.50185624T>G | CA400190715 | COL1A1 | c.4273A>C (p.Thr1425Pro) c.4003A>C (p.Thr1335Pro) c.3355A>C (p.Thr1119Pro) c.4075A>C (p.Thr1359Pro) | |
17 | g.50185625C>A | CA400190722 | COL1A1 | c.4272G>T (p.Lys1424Asn) c.4002G>T (p.Lys1334Asn) c.3354G>T (p.Lys1118Asn) c.4074G>T (p.Lys1358Asn) | |
17 | g.50185625C= | CA2263913744 | COL1A1 | c.4272G= (p.Lys1424=) c.4002G= (p.Lys1334=) c.3354G= (p.Lys1118=) c.4074G= (p.Lys1358=) | |
17 | g.50185625C>G | CA400190726 | COL1A1 | c.4272G>C (p.Lys1424Asn) c.4002G>C (p.Lys1334Asn) c.3354G>C (p.Lys1118Asn) c.4074G>C (p.Lys1358Asn) | |
17 | g.50185625C>T | CA500991467 | COL1A1 | c.4272G>A (p.Lys1424=) c.4002G>A (p.Lys1334=) c.3354G>A (p.Lys1118=) c.4074G>A (p.Lys1358=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50185626T>A | CA400190731 | COL1A1 | c.4271A>T (p.Lys1424Met) c.4001A>T (p.Lys1334Met) c.3353A>T (p.Lys1118Met) c.4073A>T (p.Lys1358Met) | |
17 | g.50185626T>C | CA400190734 | COL1A1 | c.4271A>G (p.Lys1424Arg) c.4001A>G (p.Lys1334Arg) c.3353A>G (p.Lys1118Arg) c.4073A>G (p.Lys1358Arg) | gnomAD v4 |
17 | g.50185626T>G | CA400190738 | COL1A1 | c.4271A>C (p.Lys1424Thr) c.4001A>C (p.Lys1334Thr) c.3353A>C (p.Lys1118Thr) c.4073A>C (p.Lys1358Thr) | |
17 | g.50185627T>A | CA400190742 | COL1A1 | c.4270A>T (p.Lys1424Ter) c.4000A>T (p.Lys1334Ter) c.3352A>T (p.Lys1118Ter) c.4072A>T (p.Lys1358Ter) | |
17 | g.50185627T>C | CA400190746 | COL1A1 | c.4270A>G (p.Lys1424Glu) c.4000A>G (p.Lys1334Glu) c.3352A>G (p.Lys1118Glu) c.4072A>G (p.Lys1358Glu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50185627T>G | CA400190758 | COL1A1 | c.4270A>C (p.Lys1424Gln) c.4000A>C (p.Lys1334Gln) c.3352A>C (p.Lys1118Gln) c.4072A>C (p.Lys1358Gln) | |
17 | g.50185627T= | CA2263913745 | COL1A1 | c.4270A= (p.Lys1424=) c.4000A= (p.Lys1334=) c.3352A= (p.Lys1118=) c.4072A= (p.Lys1358=) | |
17 | g.50185628G>A | CA500991471 | COL1A1 | c.4269C>T (p.Gly1423=) c.3999C>T (p.Gly1333=) c.3351C>T (p.Gly1117=) c.4071C>T (p.Gly1357=) | |
17 | g.50185628G>C | CA500991473 | COL1A1 | c.4269C>G (p.Gly1423=) c.3999C>G (p.Gly1333=) c.3351C>G (p.Gly1117=) c.4071C>G (p.Gly1357=) | |
17 | g.50185628G>T | CA500991475 | COL1A1 | c.4269C>A (p.Gly1423=) c.3999C>A (p.Gly1333=) c.3351C>A (p.Gly1117=) c.4071C>A (p.Gly1357=) | |
17 | g.50185629C>A | CA400190761 | COL1A1 | c.4268G>T (p.Gly1423Val) c.3998G>T (p.Gly1333Val) c.3350G>T (p.Gly1117Val) c.4070G>T (p.Gly1357Val) | |
17 | g.50185629C>G | CA400190772 | COL1A1 | c.4268G>C (p.Gly1423Ala) c.3998G>C (p.Gly1333Ala) c.3350G>C (p.Gly1117Ala) c.4070G>C (p.Gly1357Ala) | |
17 | g.50185629C>T | CA400190774 | COL1A1 | c.4268G>A (p.Gly1423Asp) c.3998G>A (p.Gly1333Asp) c.3350G>A (p.Gly1117Asp) c.4070G>A (p.Gly1357Asp) | COSMIC |
17 | g.50185630C>A | CA400190789 | COL1A1 | c.4267G>T (p.Gly1423Cys) c.3997G>T (p.Gly1333Cys) c.3349G>T (p.Gly1117Cys) c.4069G>T (p.Gly1357Cys) | |
17 | g.50185630C= | CA2263913746 | COL1A1 | c.4267G= (p.Gly1423=) c.3997G= (p.Gly1333=) c.3349G= (p.Gly1117=) c.4069G= (p.Gly1357=) | |
17 | g.50185630C>G | CA400190792 | COL1A1 | c.4267G>C (p.Gly1423Arg) c.3997G>C (p.Gly1333Arg) c.3349G>C (p.Gly1117Arg) c.4069G>C (p.Gly1357Arg) | |
17 | g.50185630C>T | CA400190780 | COL1A1 | c.4267G>A (p.Gly1423Ser) c.3997G>A (p.Gly1333Ser) c.3349G>A (p.Gly1117Ser) c.4069G>A (p.Gly1357Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50185631C>A | CA400190796 | COL1A1 | c.4266G>T (p.Trp1422Cys) c.3996G>T (p.Trp1332Cys) c.3348G>T (p.Trp1116Cys) c.4068G>T (p.Trp1356Cys) | |
17 | g.50185631C>G | CA400190800 | COL1A1 | c.4266G>C (p.Trp1422Cys) c.3996G>C (p.Trp1332Cys) c.3348G>C (p.Trp1116Cys) c.4068G>C (p.Trp1356Cys) | |
17 | g.50185631C>T | CA400190809 | COL1A1 | c.4266G>A (p.Trp1422Ter) c.3996G>A (p.Trp1332Ter) c.3348G>A (p.Trp1116Ter) c.4068G>A (p.Trp1356Ter) | |
17 | g.50185632C>A | CA400190815 | COL1A1 | c.4265G>T (p.Trp1422Leu) c.3995G>T (p.Trp1332Leu) c.3347G>T (p.Trp1116Leu) c.4067G>T (p.Trp1356Leu) | |
17 | g.50185632C= | CA2263913747 | COL1A1 | c.4265G= (p.Trp1422=) c.3995G= (p.Trp1332=) c.3347G= (p.Trp1116=) c.4067G= (p.Trp1356=) | |
17 | g.50185632C>G | CA400190819 | COL1A1 | c.4265G>C (p.Trp1422Ser) c.3995G>C (p.Trp1332Ser) c.3347G>C (p.Trp1116Ser) c.4067G>C (p.Trp1356Ser) | dbSNP |
17 | g.50185632C>T | CA400190823 | COL1A1 | c.4265G>A (p.Trp1422Ter) c.3995G>A (p.Trp1332Ter) c.3347G>A (p.Trp1116Ter) c.4067G>A (p.Trp1356Ter) | |
17 | g.50185633A>C | CA400190841 | COL1A1 | c.4264T>G (p.Trp1422Gly) c.3994T>G (p.Trp1332Gly) c.3346T>G (p.Trp1116Gly) c.4066T>G (p.Trp1356Gly) | |
17 | g.50185633A>G | CA400190829 | COL1A1 | c.4264T>C (p.Trp1422Arg) c.3994T>C (p.Trp1332Arg) c.3346T>C (p.Trp1116Arg) c.4066T>C (p.Trp1356Arg) | |
17 | g.50185633A>T | CA400190831 | COL1A1 | c.4264T>A (p.Trp1422Arg) c.3994T>A (p.Trp1332Arg) c.3346T>A (p.Trp1116Arg) c.4066T>A (p.Trp1356Arg) | |
17 | g.50185634G>A | CA291542771 | COL1A1 | c.4263C>T (p.Ala1421=) c.3993C>T (p.Ala1331=) c.3345C>T (p.Ala1115=) c.4065C>T (p.Ala1355=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50185634G>C | CA500991482 | COL1A1 | c.4263C>G (p.Ala1421=) c.3993C>G (p.Ala1331=) c.3345C>G (p.Ala1115=) c.4065C>G (p.Ala1355=) | |
17 | g.50185634G= | CA2263913748 | COL1A1 | c.4263C= (p.Ala1421=) c.3993C= (p.Ala1331=) c.3345C= (p.Ala1115=) c.4065C= (p.Ala1355=) | |
17 | g.50185634G>T | CA500991483 | COL1A1 | c.4263C>A (p.Ala1421=) c.3993C>A (p.Ala1331=) c.3345C>A (p.Ala1115=) c.4065C>A (p.Ala1355=) | |
17 | g.50185635G>A | CA400190844 | COL1A1 | c.4262C>T (p.Ala1421Val) c.3992C>T (p.Ala1331Val) c.3344C>T (p.Ala1115Val) c.4064C>T (p.Ala1355Val) | ClinVar dbSNP gnomAD v4 |
17 | g.50185635G>C | CA8644193 | COL1A1 | c.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 |
17 | g.50185635G= | CA2263913749 | COL1A1 | c.4262C= (p.Ala1421=) c.3992C= (p.Ala1331=) c.3344C= (p.Ala1115=) c.4064C= (p.Ala1355=) | |
17 | g.50185635G>T | CA400190852 | COL1A1 | c.4262C>A (p.Ala1421Asp) c.3992C>A (p.Ala1331Asp) c.3344C>A (p.Ala1115Asp) c.4064C>A (p.Ala1355Asp) | |
17 | g.50185636C>A | CA400190856 | COL1A1 | c.4261G>T (p.Ala1421Ser) c.3991G>T (p.Ala1331Ser) c.3343G>T (p.Ala1115Ser) c.4063G>T (p.Ala1355Ser) | |
17 | g.50185636C= | CA2263913750 | COL1A1 | c.4261G= (p.Ala1421=) c.3991G= (p.Ala1331=) c.3343G= (p.Ala1115=) c.4063G= (p.Ala1355=) | |
17 | g.50185636C>G | CA400190860 | COL1A1 | c.4261G>C (p.Ala1421Pro) c.3991G>C (p.Ala1331Pro) c.3343G>C (p.Ala1115Pro) c.4063G>C (p.Ala1355Pro) | |
17 | g.50185636C>T | CA400190864 | COL1A1 | c.4261G>A (p.Ala1421Thr) c.3991G>A (p.Ala1331Thr) c.3343G>A (p.Ala1115Thr) c.4063G>A (p.Ala1355Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50185637T>A | CA500991484 | COL1A1 | c.4260A>T (p.Gly1420=) c.3990A>T (p.Gly1330=) c.3342A>T (p.Gly1114=) c.4062A>T (p.Gly1354=) | ClinVar dbSNP |
17 | g.50185637T>C | CA500991486 | COL1A1 | c.4260A>G (p.Gly1420=) c.3990A>G (p.Gly1330=) c.3342A>G (p.Gly1114=) c.4062A>G (p.Gly1354=) | |
17 | g.50185637T>G | CA500991485 | COL1A1 | c.4260A>C (p.Gly1420=) c.3990A>C (p.Gly1330=) c.3342A>C (p.Gly1114=) c.4062A>C (p.Gly1354=) | dbSNP |
17 | g.50185637T= | CA2263913751 | COL1A1 | c.4260A= (p.Gly1420=) c.3990A= (p.Gly1330=) c.3342A= (p.Gly1114=) c.4062A= (p.Gly1354=) | |
17 | g.50185638C>A | CA400190869 | COL1A1 | c.4259G>T (p.Gly1420Val) c.3989G>T (p.Gly1330Val) c.3341G>T (p.Gly1114Val) c.4061G>T (p.Gly1354Val) | |
17 | g.50185638C>G | CA400190876 | COL1A1 | c.4259G>C (p.Gly1420Ala) c.3989G>C (p.Gly1330Ala) c.3341G>C (p.Gly1114Ala) c.4061G>C (p.Gly1354Ala) | |
17 | g.50185638C>T | CA400190873 | COL1A1 | c.4259G>A (p.Gly1420Glu) c.3989G>A (p.Gly1330Glu) c.3341G>A (p.Gly1114Glu) c.4061G>A (p.Gly1354Glu) | |
17 | g.50185639C>A | CA400190880 | COL1A1 | c.4258G>T (p.Gly1420Ter) c.3988G>T (p.Gly1330Ter) c.3340G>T (p.Gly1114Ter) c.4060G>T (p.Gly1354Ter) | |
17 | g.50185639C= | CA2263913752 | COL1A1 | c.4258G= (p.Gly1420=) c.3988G= (p.Gly1330=) c.3340G= (p.Gly1114=) c.4060G= (p.Gly1354=) | |
17 | g.50185639C>G | CA400190882 | COL1A1 | c.4258G>C (p.Gly1420Arg) c.3988G>C (p.Gly1330Arg) c.3340G>C (p.Gly1114Arg) c.4060G>C (p.Gly1354Arg) | dbSNP |
17 | g.50185639C>T | CA8644194 | COL1A1 | c.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 |
17 | g.50185640G>A | CA8644195 | COL1A1 | c.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 |
17 | g.50185640G>C | CA500991488 | COL1A1 | c.4257C>G (p.Thr1419=) c.3987C>G (p.Thr1329=) c.3339C>G (p.Thr1113=) c.4059C>G (p.Thr1353=) | |
17 | g.50185640G= | CA2263913753 | COL1A1 | c.4257C= (p.Thr1419=) c.3987C= (p.Thr1329=) c.3339C= (p.Thr1113=) c.4059C= (p.Thr1353=) | |
17 | g.50185640G>T | CA500991489 | COL1A1 | c.4257C>A (p.Thr1419=) c.3987C>A (p.Thr1329=) c.3339C>A (p.Thr1113=) c.4059C>A (p.Thr1353=) | |
17 | g.50185641G>A | CA400190896 | COL1A1 | c.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 |
17 | g.50185641G>C | CA400190900 | COL1A1 | c.4256C>G (p.Thr1419Ser) c.3986C>G (p.Thr1329Ser) c.3338C>G (p.Thr1113Ser) c.4058C>G (p.Thr1353Ser) | |
17 | g.50185641G= | CA2263913754 | COL1A1 | c.4256C= (p.Thr1419=) c.3986C= (p.Thr1329=) c.3338C= (p.Thr1113=) c.4058C= (p.Thr1353=) | |
17 | g.50185641G>T | CA400190903 | COL1A1 | c.4256C>A (p.Thr1419Asn) c.3986C>A (p.Thr1329Asn) c.3338C>A (p.Thr1113Asn) c.4058C>A (p.Thr1353Asn) | |
17 | g.50185642T>A | CA400190909 | COL1A1 | c.4255A>T (p.Thr1419Ser) c.3985A>T (p.Thr1329Ser) c.3337A>T (p.Thr1113Ser) c.4057A>T (p.Thr1353Ser) | |
17 | g.50185642T>C | CA400190914 | COL1A1 | c.4255A>G (p.Thr1419Ala) c.3985A>G (p.Thr1329Ala) c.3337A>G (p.Thr1113Ala) c.4057A>G (p.Thr1353Ala) | |
17 | g.50185642T>G | CA400190918 | COL1A1 | c.4255A>C (p.Thr1419Pro) c.3985A>C (p.Thr1329Pro) c.3337A>C (p.Thr1113Pro) c.4057A>C (p.Thr1353Pro) | dbSNP |
17 | g.50185642T= | CA2263913755 | COL1A1 | c.4255A= (p.Thr1419=) c.3985A= (p.Thr1329=) c.3337A= (p.Thr1113=) c.4057A= (p.Thr1353=) | |
17 | g.50185643G>A | CA500991494 | COL1A1 | c.4254C>T (p.His1418=) c.3984C>T (p.His1328=) c.3336C>T (p.His1112=) c.4056C>T (p.His1352=) | |
17 | g.50185643G>C | CA400190932 | COL1A1 | c.4254C>G (p.His1418Gln) c.3984C>G (p.His1328Gln) c.3336C>G (p.His1112Gln) c.4056C>G (p.His1352Gln) | |
17 | g.50185643G>T | CA400190938 | COL1A1 | c.4254C>A (p.His1418Gln) c.3984C>A (p.His1328Gln) c.3336C>A (p.His1112Gln) c.4056C>A (p.His1352Gln) | |
17 | g.50185644T>A | CA400190943 | COL1A1 | c.4253A>T (p.His1418Leu) c.3983A>T (p.His1328Leu) c.3335A>T (p.His1112Leu) c.4055A>T (p.His1352Leu) | |
17 | g.50185644T>C | CA400190950 | COL1A1 | c.4253A>G (p.His1418Arg) c.3983A>G (p.His1328Arg) c.3335A>G (p.His1112Arg) c.4055A>G (p.His1352Arg) | ClinVar |
17 | g.50185644T>G | CA400190948 | COL1A1 | c.4253A>C (p.His1418Pro) c.3983A>C (p.His1328Pro) c.3335A>C (p.His1112Pro) c.4055A>C (p.His1352Pro) | |
17 | g.50185645G>A | CA400190955 | COL1A1 | c.4252C>T (p.His1418Tyr) c.3982C>T (p.His1328Tyr) c.3334C>T (p.His1112Tyr) c.4054C>T (p.His1352Tyr) | gnomAD v4 |
17 | g.50185645G>C | CA400190958 | COL1A1 | c.4252C>G (p.His1418Asp) c.3982C>G (p.His1328Asp) c.3334C>G (p.His1112Asp) c.4054C>G (p.His1352Asp) | |
17 | g.50185645G>T | CA400190963 | COL1A1 | c.4252C>A (p.His1418Asn) c.3982C>A (p.His1328Asn) c.3334C>A (p.His1112Asn) c.4054C>A (p.His1352Asn) | COSMIC |
17 | g.50185646A>C | CA400190968 | COL1A1 | c.4251T>G (p.Ser1417Arg) c.3981T>G (p.Ser1327Arg) c.3333T>G (p.Ser1111Arg) c.4053T>G (p.Ser1351Arg) | gnomAD v3 gnomAD v4 |
17 | g.50185646A>G | CA500991496 | COL1A1 | c.4251T>C (p.Ser1417=) c.3981T>C (p.Ser1327=) c.3333T>C (p.Ser1111=) c.4053T>C (p.Ser1351=) | |
17 | g.50185646A>T | CA400190973 | COL1A1 | c.4251T>A (p.Ser1417Arg) c.3981T>A (p.Ser1327Arg) c.3333T>A (p.Ser1111Arg) c.4053T>A (p.Ser1351Arg) | |
17 | g.50185647C>A | CA400190993 | COL1A1 | c.4250G>T (p.Ser1417Ile) c.3980G>T (p.Ser1327Ile) c.3332G>T (p.Ser1111Ile) c.4052G>T (p.Ser1351Ile) | |
17 | g.50185647C>G | CA400190980 | COL1A1 | c.4250G>C (p.Ser1417Thr) c.3980G>C (p.Ser1327Thr) c.3332G>C (p.Ser1111Thr) c.4052G>C (p.Ser1351Thr) | |
17 | g.50185647C>T | CA400190977 | COL1A1 | c.4250G>A (p.Ser1417Asn) c.3980G>A (p.Ser1327Asn) c.3332G>A (p.Ser1111Asn) c.4052G>A (p.Ser1351Asn) | |
17 | g.50185648T>A | CA400190996 | COL1A1 | c.4249A>T (p.Ser1417Cys) c.3979A>T (p.Ser1327Cys) c.3331A>T (p.Ser1111Cys) c.4051A>T (p.Ser1351Cys) | |
17 | g.50185648T>C | CA400191001 | COL1A1 | c.4249A>G (p.Ser1417Gly) c.3979A>G (p.Ser1327Gly) c.3331A>G (p.Ser1111Gly) c.4051A>G (p.Ser1351Gly) | |
17 | g.50185648T>G | CA400191005 | COL1A1 | c.4249A>C (p.Ser1417Arg) c.3979A>C (p.Ser1327Arg) c.3331A>C (p.Ser1111Arg) c.4051A>C (p.Ser1351Arg) | |
17 | g.50185649C>A | CA400191009 | COL1A1 | c.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) | |
17 | g.50185649C>G | CA400191014 | COL1A1 | c.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) | |
17 | g.50185649C>T | CA400191018 | COL1A1 | c.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) | |
17 | g.50185650_50185778del | CA2809756914 | COL1A1 | c.4248+1_4249-1del c.3978+1_3979-1del c.3330+1_3331-1del c.4050+1_4051-1del | |
17 | g.50185649_50185650insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGT | CA2733839109 | COL1A1 | c.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 |
17 | g.50185649_50185650insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCG | CA2809756915 | COL1A1 | c.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) | |
17 | g.50185649_50185650insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCT | CA2809756916 | COL1A1 | c.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) | |
17 | g.50185650del | CA2695226428 | COL1A1 | c.4249-2del (n.4249-2del) c.3979-2del (n.3979-2del) c.3331-2del (n.3331-2del) c.4051-2del (n.4051-2del) | |
17 | g.50185650T>A | CA400191022 | COL1A1 | c.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) | |
17 | g.50185650T>C | CA400191030 | COL1A1 | c.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) | |
17 | g.50185650T>G | CA291542772 | COL1A1 | c.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 |
17 | g.50185650T= | CA2263913756 | COL1A1 | c.4249-2A= (n.4249-2A=) c.3979-2A= (n.3979-2A=) c.3331-2A= (n.3331-2A=) c.4051-2A= (n.4051-2A=) | |
17 | g.50185650_50185651del | CA2695226427 | COL1A1 | c.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) | |
17 | g.50185650_50185652del | CA2695226426 | COL1A1 | c.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) | |
17 | g.50185651G>A | CA291542773 | COL1A1 | c.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 |
17 | g.50185651G= | CA2263913757 | COL1A1 | c.4249-3C= (n.4249-3C=) c.3979-3C= (n.3979-3C=) c.3331-3C= (n.3331-3C=) c.4051-3C= (n.4051-3C=) | |
17 | g.50185652G>C | CA2638704486 | COL1A1 | c.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 |
17 | g.50185652G= | CA2263913758 | COL1A1 | c.4249-4C= (n.4249-4C=) c.3979-4C= (n.3979-4C=) c.3331-4C= (n.3331-4C=) c.4051-4C= (n.4051-4C=) | |
17 | g.50185652G>T | CA626689035 | COL1A1 | c.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 |
17 | g.50185653G>A | CA2263913760 | COL1A1 | c.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 |
17 | g.50185653G= | CA2263913759 | COL1A1 | c.4249-5C= (n.4249-5C=) c.3979-5C= (n.3979-5C=) c.3331-5C= (n.3331-5C=) c.4051-5C= (n.4051-5C=) | |
17 | g.50185654G>A | CA984452276 | COL1A1 | c.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 |
17 | g.50185654G= | CA2263913761 | COL1A1 | c.4249-6C= (n.4249-6C=) c.3979-6C= (n.3979-6C=) c.3331-6C= (n.3331-6C=) c.4051-6C= (n.4051-6C=) | |
17 | g.50185655T>C | CA2809756919 | COL1A1 | c.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) | |
17 | g.50185655T>G | CA8644196 | COL1A1 | c.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 |
17 | g.50185655T= | CA2263913762 | COL1A1 | c.4249-7A= (n.4249-7A=) c.3979-7A= (n.3979-7A=) c.3331-7A= (n.3331-7A=) c.4051-7A= (n.4051-7A=) | |
17 | g.50185655_50185656delinsTG | CA2263913763 | COL1A1 | c.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) | |
17 | g.50185656G>A | CA626689036 | COL1A1 | c.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 |
17 | g.50185656G= | CA2263913765 | COL1A1 | c.4249-8C= (n.4249-8C=) c.3979-8C= (n.3979-8C=) c.3331-8C= (n.3331-8C=) c.4051-8C= (n.4051-8C=) | |
17 | g.50185659del | CA2263913764 | COL1A1 | c.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 |
17 | g.50185661_50185679del | CA2695226429 | COL1A1 | c.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) | |
17 | g.50185657G>A | CA2638704492 | COL1A1 | c.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 |
17 | g.50185658G>A | CA2638704493 | COL1A1 | c.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 |
17 | g.50185658G= | CA2263913766 | COL1A1 | c.4249-10C= (n.4249-10C=) c.3979-10C= (n.3979-10C=) c.3331-10C= (n.3331-10C=) c.4051-10C= (n.4051-10C=) | |
17 | g.50185658G>T | CA626689037 | COL1A1 | c.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 |
17 | g.50185659G>A | CA2263913768 | COL1A1 | c.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 |
17 | g.50185659G= | CA2263913767 | COL1A1 | c.4249-11C= (n.4249-11C=) c.3979-11C= (n.3979-11C=) c.3331-11C= (n.3331-11C=) c.4051-11C= (n.4051-11C=) | |
17 | g.50185659G>T | CA2638704495 | COL1A1 | c.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 |
17 | g.50185660C>A | CA2581314524 | COL1A1 | c.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 |
17 | g.50185660C= | CA2263913769 | COL1A1 | c.4249-12G= (n.4249-12G=) c.3979-12G= (n.3979-12G=) c.3331-12G= (n.3331-12G=) c.4051-12G= (n.4051-12G=) | |
17 | g.50185660C>G | CA772780249 | COL1A1 | c.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 |
17 | g.50185660C>T | CA203157 | COL1A1 | c.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 |
17 | g.50185661G>A | CA291542774 | COL1A1 | c.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 |
17 | g.50185661G= | CA2263913770 | COL1A1 | c.4249-13C= (n.4249-13C=) c.3979-13C= (n.3979-13C=) c.3331-13C= (n.3331-13C=) c.4051-13C= (n.4051-13C=) | |
17 | g.50185661G>T | CA2638704502 | COL1A1 | c.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 |
17 | g.50185662G>A | CA8644197 | COL1A1 | c.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 |
17 | g.50185662G= | CA2263913771 | COL1A1 | c.4249-14C= (n.4249-14C=) c.3979-14C= (n.3979-14C=) c.3331-14C= (n.3331-14C=) c.4051-14C= (n.4051-14C=) | |
17 | g.50185663A= | CA2263913772 | COL1A1 | c.4249-15T= (n.4249-15T=) c.3979-15T= (n.3979-15T=) c.3331-15T= (n.3331-15T=) c.4051-15T= (n.4051-15T=) | |
17 | g.50185663A>G | CA2263913773 | COL1A1 | c.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 |
17 | g.50185664G>T | CA2638704505 | COL1A1 | c.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 |
17 | g.50185668A= | CA2263913774 | COL1A1 | c.4249-20T= (n.4249-20T=) c.3979-20T= (n.3979-20T=) c.3331-20T= (n.3331-20T=) c.4051-20T= (n.4051-20T=) | |
17 | g.50185668A>T | CA291542775 | COL1A1 | c.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 |
17 | g.50185669C>A | CA626689038 | COL1A1 | c.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 |
17 | g.50185669C= | CA2263913775 | COL1A1 | c.4249-21G= (n.4249-21G=) c.3979-21G= (n.3979-21G=) c.3331-21G= (n.3331-21G=) c.4051-21G= (n.4051-21G=) | |
17 | g.50185669C>T | CA8644198 | COL1A1 | c.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 |
17 | g.50185670G>A | CA8644199 | COL1A1 | c.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 |
17 | g.50185670G>C | CA984452292 | COL1A1 | c.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 |
17 | g.50185670G= | CA2263913776 | COL1A1 | c.4249-22C= (n.4249-22C=) c.3979-22C= (n.3979-22C=) c.3331-22C= (n.3331-22C=) c.4051-22C= (n.4051-22C=) | |
17 | g.50185672del | CA2638704511 | COL1A1 | c.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 |
17 | g.50185673A= | CA2263913777 | COL1A1 | c.4249-25T= (n.4249-25T=) c.3979-25T= (n.3979-25T=) c.3331-25T= (n.3331-25T=) c.4051-25T= (n.4051-25T=) | |
17 | g.50185673A>T | CA8644200 | COL1A1 | c.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 |
17 | g.50185678dup | CA2638704526 | COL1A1 | c.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 |
17 | g.50185678del | CA2638704530 | COL1A1 | c.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 |
17 | g.50185675G>C | CA8644201 | COL1A1 | c.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 |
17 | g.50185675G= | CA2263913778 | COL1A1 | c.4249-27C= (n.4249-27C=) c.3979-27C= (n.3979-27C=) c.3331-27C= (n.3331-27C=) c.4051-27C= (n.4051-27C=) | |
17 | g.50185676G>A | CA8644202 | COL1A1 | c.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 |
17 | g.50185676G= | CA2263913779 | COL1A1 | c.4249-28C= (n.4249-28C=) c.3979-28C= (n.3979-28C=) c.3331-28C= (n.3331-28C=) c.4051-28C= (n.4051-28C=) | |
17 | g.50185676G>T | CA2576316973 | COL1A1 | c.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 |
17 | g.50185677G>A | CA626689039 | COL1A1 | c.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 |
17 | g.50185677G= | CA2263913780 | COL1A1 | c.4249-29C= (n.4249-29C=) c.3979-29C= (n.3979-29C=) c.3331-29C= (n.3331-29C=) c.4051-29C= (n.4051-29C=) | |
17 | g.50185677G>T | CA2809756926 | COL1A1 | c.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) | |
17 | g.50185678G>A | CA2263913782 | COL1A1 | c.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 |
17 | g.50185678G= | CA2263913781 | COL1A1 | c.4249-30C= (n.4249-30C=) c.3979-30C= (n.3979-30C=) c.3331-30C= (n.3331-30C=) c.4051-30C= (n.4051-30C=) | |
17 | g.50185680A= | CA2263913783 | COL1A1 | c.4249-32T= (n.4249-32T=) c.3979-32T= (n.3979-32T=) c.3331-32T= (n.3331-32T=) c.4051-32T= (n.4051-32T=) | |
17 | g.50185680A>G | CA626689040 | COL1A1 | c.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 |
17 | g.50185680A>T | CA8644203 | COL1A1 | c.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 |
17 | g.50185681T>C | CA2263913785 | COL1A1 | c.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 |
17 | g.50185681T= | CA2263913784 | COL1A1 | c.4249-33A= (n.4249-33A=) c.3979-33A= (n.3979-33A=) c.3331-33A= (n.3331-33A=) c.4051-33A= (n.4051-33A=) | |
17 | g.50185685C= | CA2263913786 | COL1A1 | c.4249-37G= (n.4249-37G=) c.3979-37G= (n.3979-37G=) c.3331-37G= (n.3331-37G=) c.4051-37G= (n.4051-37G=) | |
17 | g.50185685C>G | CA8644204 | COL1A1 | c.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 |
17 | g.50185685C>T | CA2638704537 | COL1A1 | c.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 |
17 | g.50185686_50185687del | CA2638704536 | COL1A1 | c.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 |
17 | g.50185686A= | CA2263913787 | COL1A1 | c.4249-38T= (n.4249-38T=) c.3979-38T= (n.3979-38T=) c.3331-38T= (n.3331-38T=) c.4051-38T= (n.4051-38T=) | |
17 | g.50185686A>C | CA626689041 | COL1A1 | c.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 |
17 | g.50185687C>A | CA2638704542 | COL1A1 | c.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 |
17 | g.50185687C= | CA2263913788 | COL1A1 | c.4249-39G= (n.4249-39G=) c.3979-39G= (n.3979-39G=) c.3331-39G= (n.3331-39G=) c.4051-39G= (n.4051-39G=) | |
17 | g.50185687C>G | CA2638704543 | COL1A1 | c.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 |
17 | g.50185687C>T | CA626689042 | COL1A1 | c.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 |
17 | g.50185688G>A | CA8644205 | COL1A1 | c.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 |
17 | g.50185688G= | CA2263913790 | COL1A1 | c.4249-40C= (n.4249-40C=) c.3979-40C= (n.3979-40C=) c.3331-40C= (n.3331-40C=) c.4051-40C= (n.4051-40C=) | |
17 | g.50185688G>T | CA2263913789 | COL1A1 | c.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 |
17 | g.50185689T>G | CA2638704547 | COL1A1 | c.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 |
17 | g.50185689_50185690delinsTG | CA2263913791 | COL1A1 | c.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) | |
17 | g.50185690G>A | CA2576316974 | COL1A1 | c.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) | |
17 | g.50185690G>T | CA2638704553 | COL1A1 | c.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 |
17 | g.50185692del | CA626689043 | COL1A1 | c.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 |
17 | g.50185691G>A | CA2263913793 | COL1A1 | c.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 |
17 | g.50185691G>C | CA626689044 | COL1A1 | c.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 |
17 | g.50185691G= | CA2263913792 | COL1A1 | c.4249-43C= (n.4249-43C=) c.3979-43C= (n.3979-43C=) c.3331-43C= (n.3331-43C=) c.4051-43C= (n.4051-43C=) | |
17 | g.50185692G>C | CA2638704555 | COL1A1 | c.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 |
17 | g.50185694G>A | CA626689045 | COL1A1 | c.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 |
17 | g.50185694G= | CA2263913794 | COL1A1 | c.4249-46C= (n.4249-46C=) c.3979-46C= (n.3979-46C=) c.3331-46C= (n.3331-46C=) c.4051-46C= (n.4051-46C=) | |
17 | g.50185694G>T | CA2638704558 | COL1A1 | c.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 |
17 | g.50185695T>A | CA2576316975 | COL1A1 | c.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 |
17 | g.50185695T>G | CA984452301 | COL1A1 | c.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 |
17 | g.50185696G>C | CA2263913796 | COL1A1 | c.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 |
17 | g.50185696G= | CA2263913795 | COL1A1 | c.4249-48C= (n.4249-48C=) c.3979-48C= (n.3979-48C=) c.3331-48C= (n.3331-48C=) c.4051-48C= (n.4051-48C=) |