Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188994498C>A | CA074115 | COL3A1 | c.1195-43C>A (n.1195-43C>A) c.1294-43C>A (n.1294-43C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994498C= | CA1315398547 | COL3A1 | c.1195-43C= (n.1195-43C=) c.1294-43C= (n.1294-43C=) | |
2 | g.188994498C>G | CA538461826 | COL3A1 | c.1195-43C>G (n.1195-43C>G) c.1294-43C>G (n.1294-43C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994498C>T | CA074118 | COL3A1 | c.1195-43C>T (n.1195-43C>T) c.1294-43C>T (n.1294-43C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994499G>A | CA074111 | COL3A1 | c.1195-42G>A (n.1195-42G>A) c.1294-42G>A (n.1294-42G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994499G= | CA1315398548 | COL3A1 | c.1195-42G= (n.1195-42G=) c.1294-42G= (n.1294-42G=) | |
2 | g.188994499G>T | CA2662289038 | COL3A1 | c.1195-42G>T (n.1195-42G>T) c.1294-42G>T (n.1294-42G>T) | gnomAD v4 |
2 | g.188994501A>G | CA2577185377 | COL3A1 | c.1195-40A>G (n.1195-40A>G) c.1294-40A>G (n.1294-40A>G) | |
2 | g.188994502T>A | CA762195121 | COL3A1 | c.1195-39T>A (n.1195-39T>A) c.1294-39T>A (n.1294-39T>A) | dbSNP |
2 | g.188994502T= | CA1315398549 | COL3A1 | c.1195-39T= (n.1195-39T=) c.1294-39T= (n.1294-39T=) | |
2 | g.188994503C= | CA1315398550 | COL3A1 | c.1195-38C= (n.1195-38C=) c.1294-38C= (n.1294-38C=) | |
2 | g.188994503C>G | CA1315398551 | COL3A1 | c.1195-38C>G (n.1195-38C>G) c.1294-38C>G (n.1294-38C>G) | dbSNP |
2 | g.188994503C>T | CA538461827 | COL3A1 | c.1195-38C>T (n.1195-38C>T) c.1294-38C>T (n.1294-38C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994504del | CA2577185378 | COL3A1 | c.1195-37del (n.1195-37del) c.1294-37del (n.1294-37del) | |
2 | g.188994504C>A | CA2662289043 | COL3A1 | c.1195-37C>A (n.1195-37C>A) c.1294-37C>A (n.1294-37C>A) | gnomAD v4 |
2 | g.188994504C= | CA1315398552 | COL3A1 | c.1195-37C= (n.1195-37C=) c.1294-37C= (n.1294-37C=) | |
2 | g.188994504C>T | CA1315398553 | COL3A1 | c.1195-37C>T (n.1195-37C>T) c.1294-37C>T (n.1294-37C>T) | dbSNP |
2 | g.188994505T>A | CA2577185379 | COL3A1 | c.1195-36T>A (n.1195-36T>A) c.1294-36T>A (n.1294-36T>A) | |
2 | g.188994508C= | CA1315398554 | COL3A1 | c.1195-33C= (n.1195-33C=) c.1294-33C= (n.1294-33C=) | |
2 | g.188994508C>G | CA074103 | COL3A1 | c.1195-33C>G (n.1195-33C>G) c.1294-33C>G (n.1294-33C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994508C>T | CA074106 | COL3A1 | c.1195-33C>T (n.1195-33C>T) c.1294-33C>T (n.1294-33C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994509T>A | CA538461828 | COL3A1 | c.1195-32T>A (n.1195-32T>A) c.1294-32T>A (n.1294-32T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994509T= | CA1315398555 | COL3A1 | c.1195-32T= (n.1195-32T=) c.1294-32T= (n.1294-32T=) | |
2 | g.188994510G>A | CA2662289044 | COL3A1 | c.1195-31G>A (n.1195-31G>A) c.1294-31G>A (n.1294-31G>A) | gnomAD v4 |
2 | g.188994512G>A | CA074101 | COL3A1 | c.1195-29G>A (n.1195-29G>A) c.1294-29G>A (n.1294-29G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994512G= | CA1315398556 | COL3A1 | c.1195-29G= (n.1195-29G=) c.1294-29G= (n.1294-29G=) | |
2 | g.188994512G>T | CA2701024676 | COL3A1 | c.1195-29G>T (n.1195-29G>T) c.1294-29G>T (n.1294-29G>T) | dbSNP |
2 | g.188994513T>C | CA2662289046 | COL3A1 | c.1195-28T>C (n.1195-28T>C) c.1294-28T>C (n.1294-28T>C) | gnomAD v4 |
2 | g.188994513T>G | CA2662289047 | COL3A1 | c.1195-28T>G (n.1195-28T>G) c.1294-28T>G (n.1294-28T>G) | dbSNP gnomAD v4 |
2 | g.188994515T>G | CA1315398558 | COL3A1 | c.1195-26T>G (n.1195-26T>G) c.1294-26T>G (n.1294-26T>G) | dbSNP |
2 | g.188994515T= | CA1315398557 | COL3A1 | c.1195-26T= (n.1195-26T=) c.1294-26T= (n.1294-26T=) | |
2 | g.188994518A= | CA1315398559 | COL3A1 | c.1195-23A= (n.1195-23A=) c.1294-23A= (n.1294-23A=) | |
2 | g.188994518A>G | CA074096 | COL3A1 | c.1195-23A>G (n.1195-23A>G) c.1294-23A>G (n.1294-23A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994518A>T | CA074097 | COL3A1 | c.1195-23A>T (n.1195-23A>T) c.1294-23A>T (n.1294-23A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994519C>A | CA2753572118 | COL3A1 | c.1195-22C>A (n.1195-22C>A) c.1294-22C>A (n.1294-22C>A) | |
2 | g.188994519C>G | CA2662289049 | COL3A1 | c.1195-22C>G (n.1195-22C>G) c.1294-22C>G (n.1294-22C>G) | gnomAD v4 |
2 | g.188994520C>A | CA074092 | COL3A1 | c.1195-21C>A (n.1195-21C>A) c.1294-21C>A (n.1294-21C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994520C= | CA1315398560 | COL3A1 | c.1195-21C= (n.1195-21C=) c.1294-21C= (n.1294-21C=) | |
2 | g.188994520C>G | CA62595637 | COL3A1 | c.1195-21C>G (n.1195-21C>G) c.1294-21C>G (n.1294-21C>G) | dbSNP gnomAD v4 |
2 | g.188994524A>G | CA2577185380 | COL3A1 | c.1195-17A>G (n.1195-17A>G) c.1294-17A>G (n.1294-17A>G) | |
2 | g.188994525_188994527delinsCTT | CA1315398561 | COL3A1 | c.1195-16_1195-14delinsCTT (n.1195-16_1195-14delinsCTT) c.1294-16_1294-14delinsCTT (n.1294-16_1294-14delinsCTT) | |
2 | g.188994528del | CA2662289052 | COL3A1 | c.1195-13del (n.1195-13del) c.1294-13del (n.1294-13del) | ClinVar gnomAD v4 |
2 | g.188994527_188994528del | CA538461829 | COL3A1 | c.1195-14_1195-13del (n.1195-14_1195-13del) c.1294-14_1294-13del (n.1294-14_1294-13del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994528T>C | CA074089 | COL3A1 | c.1195-13T>C (n.1195-13T>C) c.1294-13T>C (n.1294-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994528T= | CA1315398562 | COL3A1 | c.1195-13T= (n.1195-13T=) c.1294-13T= (n.1294-13T=) | |
2 | g.188994529G>A | CA2662289054 | COL3A1 | c.1195-12G>A (n.1195-12G>A) c.1294-12G>A (n.1294-12G>A) | ClinVar gnomAD v4 |
2 | g.188994529G>C | CA2662289056 | COL3A1 | c.1195-12G>C (n.1195-12G>C) c.1294-12G>C (n.1294-12G>C) | gnomAD v4 |
2 | g.188994529G= | CA1315398563 | COL3A1 | c.1195-12G= (n.1195-12G=) c.1294-12G= (n.1294-12G=) | |
2 | g.188994529G>T | CA2577185381 | COL3A1 | c.1195-12G>T (n.1195-12G>T) c.1294-12G>T (n.1294-12G>T) | ClinVar gnomAD v4 |
2 | g.188994530T>C | CA2701312708 | COL3A1 | c.1195-11T>C (n.1195-11T>C) c.1294-11T>C (n.1294-11T>C) | dbSNP |
2 | g.188994533_188994539dup | CA1040406430 | COL3A1 | c.1195-8_1195-2dup (n.1195-8_1195-2dup) c.1294-8_1294-2dup (n.1294-8_1294-2dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994532A>G | CA2580065342 | COL3A1 | c.1195-9A>G (n.1195-9A>G) c.1294-9A>G (n.1294-9A>G) | ClinVar gnomAD v4 |
2 | g.188994533T>A | CA2740096379 | COL3A1 | c.1195-8T>A (n.1195-8T>A) c.1294-8T>A (n.1294-8T>A) | ClinVar |
2 | g.188994533T>C | CA538461830 | COL3A1 | c.1195-8T>C (n.1195-8T>C) c.1294-8T>C (n.1294-8T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994533T= | CA1315398564 | COL3A1 | c.1195-8T= (n.1195-8T=) c.1294-8T= (n.1294-8T=) | |
2 | g.188994534A= | CA1315398565 | COL3A1 | c.1195-7A= (n.1195-7A=) c.1294-7A= (n.1294-7A=) | |
2 | g.188994534A>G | CA1315398566 | COL3A1 | c.1195-7A>G (n.1195-7A>G) c.1294-7A>G (n.1294-7A>G) | dbSNP |
2 | g.188994535C= | CA1315398567 | COL3A1 | c.1195-6C= (n.1195-6C=) c.1294-6C= (n.1294-6C=) | |
2 | g.188994535C>T | CA62595651 | COL3A1 | c.1195-6C>T (n.1195-6C>T) c.1294-6C>T (n.1294-6C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.188994536T>C | CA2662289064 | COL3A1 | c.1195-5T>C (n.1195-5T>C) c.1294-5T>C (n.1294-5T>C) | gnomAD v4 |
2 | g.188994538T>C | CA913187960 | COL3A1 | c.1195-3T>C (n.1195-3T>C) c.1294-3T>C (n.1294-3T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.188994538T>G | CA004205 | COL3A1 | c.1195-3T>G (n.1195-3T>G) c.1294-3T>G (n.1294-3T>G) | ClinVar dbSNP |
2 | g.188994538T= | CA1315398568 | COL3A1 | c.1195-3T= (n.1195-3T=) c.1294-3T= (n.1294-3T=) | |
2 | g.188994539A>C | CA349851608 | COL3A1 | c.1195-2A>C (n.1195-2A>C) c.1294-2A>C (n.1294-2A>C) | |
2 | g.188994539A>G | CA349851606 | COL3A1 | c.1195-2A>G (n.1195-2A>G) c.1294-2A>G (n.1294-2A>G) | |
2 | g.188994539A>T | CA349851604 | COL3A1 | c.1195-2A>T (n.1195-2A>T) c.1294-2A>T (n.1294-2A>T) | |
2 | g.188994540G>A | CA349851610 | COL3A1 | c.1195-1G>A (n.1195-1G>A) c.1294-1G>A (n.1294-1G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.188994540G>C | CA16610632 | COL3A1 | c.1195-1G>C (n.1195-1G>C) c.1294-1G>C (n.1294-1G>C) | ClinVar dbSNP |
2 | g.188994540G= | CA1315398569 | COL3A1 | c.1195-1G= (n.1195-1G=) c.1294-1G= (n.1294-1G=) | |
2 | g.188994540G>T | CA349851609 | COL3A1 | c.1195-1G>T (n.1195-1G>T) c.1294-1G>T (n.1294-1G>T) | |
2 | g.188994541G>A | CA004212 | COL3A1 | c.1195G>A (p.Gly399Ser) c.1294G>A (p.Gly432Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.188994541G>C | CA349851611 | COL3A1 | c.1195G>C (p.Gly399Arg) c.1294G>C (p.Gly432Arg) | |
2 | g.188994541G= | CA1315398570 | COL3A1 | c.1195G= (p.Gly399=) c.1294G= (p.Gly432=) | |
2 | g.188994541G>T | CA349851612 | COL3A1 | c.1195G>T (p.Gly399Cys) c.1294G>T (p.Gly432Cys) | |
2 | g.188994542G>A | CA349851613 | COL3A1 | c.1196G>A (p.Gly399Asp) c.1295G>A (p.Gly432Asp) | ClinVar dbSNP |
2 | g.188994542G>C | CA349851614 | COL3A1 | c.1196G>C (p.Gly399Ala) c.1295G>C (p.Gly432Ala) | |
2 | g.188994542G= | CA1315398571 | COL3A1 | c.1196G= (p.Gly399=) c.1295G= (p.Gly432=) | |
2 | g.188994542G>T | CA349851615 | COL3A1 | c.1196G>T (p.Gly399Val) c.1295G>T (p.Gly432Val) | |
2 | g.188994543T>A | CA430309517 | COL3A1 | c.1197T>A (p.Gly399=) c.1296T>A (p.Gly432=) | |
2 | g.188994543T>C | CA430309518 | COL3A1 | c.1197T>C (p.Gly399=) c.1296T>C (p.Gly432=) | |
2 | g.188994543T>G | CA430309519 | COL3A1 | c.1197T>G (p.Gly399=) c.1296T>G (p.Gly432=) | |
2 | g.188994544G>A | CA62595677 | COL3A1 | c.1198G>A (p.Glu400Lys) c.1297G>A (p.Glu433Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.188994544G>C | CA349851616 | COL3A1 | c.1198G>C (p.Glu400Gln) c.1297G>C (p.Glu433Gln) | |
2 | g.188994544G= | CA1315398572 | COL3A1 | c.1198G= (p.Glu400=) c.1297G= (p.Glu433=) | |
2 | g.188994544G>T | CA349851617 | COL3A1 | c.1198G>T (p.Glu400Ter) c.1297G>T (p.Glu433Ter) | |
2 | g.188994545A>C | CA349851618 | COL3A1 | c.1199A>C (p.Glu400Ala) c.1298A>C (p.Glu433Ala) | gnomAD v4 |
2 | g.188994545A>G | CA349851619 | COL3A1 | c.1199A>G (p.Glu400Gly) c.1298A>G (p.Glu433Gly) | |
2 | g.188994545A>T | CA349851620 | COL3A1 | c.1199A>T (p.Glu400Val) c.1298A>T (p.Glu433Val) | |
2 | g.188994546G>A | CA430309520 | COL3A1 | c.1200G>A (p.Glu400=) c.1299G>A (p.Glu433=) | |
2 | g.188994546G>C | CA349851621 | COL3A1 | c.1200G>C (p.Glu400Asp) c.1299G>C (p.Glu433Asp) | |
2 | g.188994546G>T | CA349851622 | COL3A1 | c.1200G>T (p.Glu400Asp) c.1299G>T (p.Glu433Asp) | |
2 | g.188994547C>A | CA349851623 | COL3A1 | c.1201C>A (p.Pro401Thr) c.1300C>A (p.Pro434Thr) | |
2 | g.188994547C>G | CA349851624 | COL3A1 | c.1201C>G (p.Pro401Ala) c.1300C>G (p.Pro434Ala) | |
2 | g.188994547C>T | CA349851625 | COL3A1 | c.1201C>T (p.Pro401Ser) c.1300C>T (p.Pro434Ser) | |
2 | g.188994548C>A | CA349851626 | COL3A1 | c.1202C>A (p.Pro401His) c.1301C>A (p.Pro434His) | |
2 | g.188994548C>G | CA349851627 | COL3A1 | c.1202C>G (p.Pro401Arg) c.1301C>G (p.Pro434Arg) | |
2 | g.188994548C>T | CA349851628 | COL3A1 | c.1202C>T (p.Pro401Leu) c.1301C>T (p.Pro434Leu) | |
2 | g.188994549T>A | CA430309521 | COL3A1 | c.1203T>A (p.Pro401=) c.1302T>A (p.Pro434=) | |
2 | g.188994549T>C | CA430309522 | COL3A1 | c.1203T>C (p.Pro401=) c.1302T>C (p.Pro434=) | |
2 | g.188994549T>G | CA430309523 | COL3A1 | c.1203T>G (p.Pro401=) c.1302T>G (p.Pro434=) | |
2 | g.188994550G>A | CA10587531 | COL3A1 | c.1204G>A (p.Gly402Ser) c.1303G>A (p.Gly435Ser) | ClinVar dbSNP |
2 | g.188994550G>C | CA349851629 | COL3A1 | c.1204G>C (p.Gly402Arg) c.1303G>C (p.Gly435Arg) | |
2 | g.188994550G= | CA1315398573 | COL3A1 | c.1204G= (p.Gly402=) c.1303G= (p.Gly435=) | |
2 | g.188994550G>T | CA349851630 | COL3A1 | c.1204G>T (p.Gly402Cys) c.1303G>T (p.Gly435Cys) | ClinVar dbSNP |
2 | g.188994551G>A | CA349851631 | COL3A1 | c.1205G>A (p.Gly402Asp) c.1304G>A (p.Gly435Asp) | ClinVar |
2 | g.188994551G>C | CA349851632 | COL3A1 | c.1205G>C (p.Gly402Ala) c.1304G>C (p.Gly435Ala) | |
2 | g.188994551G>T | CA349851633 | COL3A1 | c.1205G>T (p.Gly402Val) c.1304G>T (p.Gly435Val) | |
2 | g.188994552T>A | CA430309524 | COL3A1 | c.1206T>A (p.Gly402=) c.1305T>A (p.Gly435=) | gnomAD v4 |
2 | g.188994552T>C | CA074139 | COL3A1 | c.1206T>C (p.Gly402=) c.1305T>C (p.Gly435=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994552T>G | CA430309525 | COL3A1 | c.1206T>G (p.Gly402=) c.1305T>G (p.Gly435=) | gnomAD v4 |
2 | g.188994552T= | CA1315398574 | COL3A1 | c.1206T= (p.Gly402=) c.1305T= (p.Gly435=) | |
2 | g.188994553A= | CA1315398575 | COL3A1 | c.1207A= (p.Lys403=) c.1306A= (p.Lys436=) | |
2 | g.188994553A>C | CA349851635 | COL3A1 | c.1207A>C (p.Lys403Gln) c.1306A>C (p.Lys436Gln) | |
2 | g.188994553A>G | CA349851636 | COL3A1 | c.1207A>G (p.Lys403Glu) c.1306A>G (p.Lys436Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994553A>T | CA349851634 | COL3A1 | c.1207A>T (p.Lys403Ter) c.1306A>T (p.Lys436Ter) | |
2 | g.188994554A= | CA1315398576 | COL3A1 | c.1208A= (p.Lys403=) c.1307A= (p.Lys436=) | |
2 | g.188994554A>C | CA074143 | COL3A1 | c.1208A>C (p.Lys403Thr) c.1307A>C (p.Lys436Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994554A>G | CA349851638 | COL3A1 | c.1208A>G (p.Lys403Arg) c.1307A>G (p.Lys436Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.188994554A>T | CA349851637 | COL3A1 | c.1208A>T (p.Lys403Met) c.1307A>T (p.Lys436Met) | |
2 | g.188994555G>A | CA430309526 | COL3A1 | c.1209G>A (p.Lys403=) c.1308G>A (p.Lys436=) | COSMIC COSMIC |
2 | g.188994555G>C | CA349851639 | COL3A1 | c.1209G>C (p.Lys403Asn) c.1308G>C (p.Lys436Asn) | |
2 | g.188994555G>T | CA349851640 | COL3A1 | c.1209G>T (p.Lys403Asn) c.1308G>T (p.Lys436Asn) | gnomAD v3 |
2 | g.188994556A>C | CA349851641 | COL3A1 | c.1210A>C (p.Asn404His) c.1309A>C (p.Asn437His) | |
2 | g.188994556A>G | CA349851642 | COL3A1 | c.1210A>G (p.Asn404Asp) c.1309A>G (p.Asn437Asp) | |
2 | g.188994556A>T | CA349851643 | COL3A1 | c.1210A>T (p.Asn404Tyr) c.1309A>T (p.Asn437Tyr) | |
2 | g.188994557A>C | CA349851644 | COL3A1 | c.1211A>C (p.Asn404Thr) c.1310A>C (p.Asn437Thr) | |
2 | g.188994557A>G | CA349851645 | COL3A1 | c.1211A>G (p.Asn404Ser) c.1310A>G (p.Asn437Ser) | |
2 | g.188994557A>T | CA349851646 | COL3A1 | c.1211A>T (p.Asn404Ile) c.1310A>T (p.Asn437Ile) | |
2 | g.188994558T>A | CA349851647 | COL3A1 | c.1212T>A (p.Asn404Lys) c.1311T>A (p.Asn437Lys) | |
2 | g.188994558T>C | CA430309527 | COL3A1 | c.1212T>C (p.Asn404=) c.1311T>C (p.Asn437=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994558T>G | CA349851648 | COL3A1 | c.1212T>G (p.Asn404Lys) c.1311T>G (p.Asn437Lys) | |
2 | g.188994558T= | CA1315398577 | COL3A1 | c.1212T= (p.Asn404=) c.1311T= (p.Asn437=) | |
2 | g.188994559G>A | CA349851651 | COL3A1 | c.1213G>A (p.Gly405Ser) c.1312G>A (p.Gly438Ser) | |
2 | g.188994559G>C | CA349851650 | COL3A1 | c.1213G>C (p.Gly405Arg) c.1312G>C (p.Gly438Arg) | |
2 | g.188994559G>T | CA349851649 | COL3A1 | c.1213G>T (p.Gly405Cys) c.1312G>T (p.Gly438Cys) | COSMIC |
2 | g.188994560G>A | CA349851652 | COL3A1 | c.1214G>A (p.Gly405Asp) c.1313G>A (p.Gly438Asp) | ClinVar dbSNP |
2 | g.188994560G>C | CA349851653 | COL3A1 | c.1214G>C (p.Gly405Ala) c.1313G>C (p.Gly438Ala) | |
2 | g.188994560G>T | CA349851654 | COL3A1 | c.1214G>T (p.Gly405Val) c.1313G>T (p.Gly438Val) | |
2 | g.188994561T>A | CA430309528 | COL3A1 | c.1215T>A (p.Gly405=) c.1314T>A (p.Gly438=) | |
2 | g.188994561T>C | CA430309530 | COL3A1 | c.1215T>C (p.Gly405=) c.1314T>C (p.Gly438=) | |
2 | g.188994561T>G | CA430309529 | COL3A1 | c.1215T>G (p.Gly405=) c.1314T>G (p.Gly438=) | gnomAD v4 |
2 | g.188994562G>A | CA349851655 | COL3A1 | c.1216G>A (p.Ala406Thr) c.1315G>A (p.Ala439Thr) | |
2 | g.188994562G>C | CA62595739 | COL3A1 | c.1216G>C (p.Ala406Pro) c.1315G>C (p.Ala439Pro) | dbSNP |
2 | g.188994562G= | CA1315398578 | COL3A1 | c.1216G= (p.Ala406=) c.1315G= (p.Ala439=) | |
2 | g.188994562G>T | CA349851656 | COL3A1 | c.1216G>T (p.Ala406Ser) c.1315G>T (p.Ala439Ser) | |
2 | g.188994563C>A | CA349851657 | COL3A1 | c.1217C>A (p.Ala406Asp) c.1316C>A (p.Ala439Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994563C= | CA1315398579 | COL3A1 | c.1217C= (p.Ala406=) c.1316C= (p.Ala439=) | |
2 | g.188994563C>G | CA349851658 | COL3A1 | c.1217C>G (p.Ala406Gly) c.1316C>G (p.Ala439Gly) | |
2 | g.188994563C>T | CA349851659 | COL3A1 | c.1217C>T (p.Ala406Val) c.1316C>T (p.Ala439Val) | ClinVar |
2 | g.188994564C>A | CA430309531 | COL3A1 | c.1218C>A (p.Ala406=) c.1317C>A (p.Ala439=) | |
2 | g.188994564C>G | CA430309532 | COL3A1 | c.1218C>G (p.Ala406=) c.1317C>G (p.Ala439=) | |
2 | g.188994564C>T | CA430309533 | COL3A1 | c.1218C>T (p.Ala406=) c.1317C>T (p.Ala439=) | gnomAD v4 |
2 | g.188994565A>C | CA349851660 | COL3A1 | c.1219A>C (p.Lys407Gln) c.1318A>C (p.Lys440Gln) | |
2 | g.188994565A>G | CA349851661 | COL3A1 | c.1219A>G (p.Lys407Glu) c.1318A>G (p.Lys440Glu) | |
2 | g.188994565A>T | CA349851662 | COL3A1 | c.1219A>T (p.Lys407Ter) c.1318A>T (p.Lys440Ter) | |
2 | g.188994566A= | CA1315398580 | COL3A1 | c.1220A= (p.Lys407=) c.1319A= (p.Lys440=) | |
2 | g.188994566A>C | CA349851663 | COL3A1 | c.1220A>C (p.Lys407Thr) c.1319A>C (p.Lys440Thr) | |
2 | g.188994566A>G | CA349851664 | COL3A1 | c.1220A>G (p.Lys407Arg) c.1319A>G (p.Lys440Arg) | |
2 | g.188994566A>T | CA62595757 | COL3A1 | c.1220A>T (p.Lys407Ile) c.1319A>T (p.Lys440Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994567A>C | CA349851665 | COL3A1 | c.1221A>C (p.Lys407Asn) c.1320A>C (p.Lys440Asn) | |
2 | g.188994567A>G | CA430309534 | COL3A1 | c.1221A>G (p.Lys407=) c.1320A>G (p.Lys440=) | |
2 | g.188994567A>T | CA349851666 | COL3A1 | c.1221A>T (p.Lys407Asn) c.1320A>T (p.Lys440Asn) | |
2 | g.188994567_188994568delinsAG | CA1315398581 | COL3A1 | c.1221_1222delinsAG (p.Lys407=) c.1320_1321delinsAG (p.Lys440=) | |
2 | g.188994568G>A | CA349851667 | COL3A1 | c.1222G>A (p.Gly408Arg) c.1321G>A (p.Gly441Arg) | ClinVar |
2 | g.188994568G>C | CA349851668 | COL3A1 | c.1222G>C (p.Gly408Arg) c.1321G>C (p.Gly441Arg) | |
2 | g.188994568G>T | CA349851669 | COL3A1 | c.1222G>T (p.Gly408Ter) c.1321G>T (p.Gly441Ter) | |
2 | g.188994569del | CA1139657558 | COL3A1 | c.1223del (p.Gly408GlufsTer?) c.1322del (p.Gly441GlufsTer?) | ClinVar dbSNP |
2 | g.188994569G>A | CA349851670 | COL3A1 | c.1223G>A (p.Gly408Glu) c.1322G>A (p.Gly441Glu) | ClinVar dbSNP |
2 | g.188994569G>C | CA349851671 | COL3A1 | c.1223G>C (p.Gly408Ala) c.1322G>C (p.Gly441Ala) | |
2 | g.188994569G>T | CA349851672 | COL3A1 | c.1223G>T (p.Gly408Val) c.1322G>T (p.Gly441Val) | |
2 | g.188994570A>C | CA430309535 | COL3A1 | c.1224A>C (p.Gly408=) c.1323A>C (p.Gly441=) | |
2 | g.188994570A>G | CA430309536 | COL3A1 | c.1224A>G (p.Gly408=) c.1323A>G (p.Gly441=) | |
2 | g.188994570A>T | CA430309537 | COL3A1 | c.1224A>T (p.Gly408=) c.1323A>T (p.Gly441=) | |
2 | g.188994571G>A | CA349851673 | COL3A1 | c.1225G>A (p.Glu409Lys) c.1324G>A (p.Glu442Lys) | |
2 | g.188994571G>C | CA349851674 | COL3A1 | c.1225G>C (p.Glu409Gln) c.1324G>C (p.Glu442Gln) | ClinVar gnomAD v4 COSMIC COSMIC |
2 | g.188994571G>T | CA349851675 | COL3A1 | c.1225G>T (p.Glu409Ter) c.1324G>T (p.Glu442Ter) | COSMIC COSMIC |
2 | g.188994572A>C | CA349851676 | COL3A1 | c.1226A>C (p.Glu409Ala) c.1325A>C (p.Glu442Ala) | |
2 | g.188994572A>G | CA349851677 | COL3A1 | c.1226A>G (p.Glu409Gly) c.1325A>G (p.Glu442Gly) | |
2 | g.188994572A>T | CA349851678 | COL3A1 | c.1226A>T (p.Glu409Val) c.1325A>T (p.Glu442Val) | |
2 | g.188994573G>A | CA430309538 | COL3A1 | c.1227G>A (p.Glu409=) c.1326G>A (p.Glu442=) | |
2 | g.188994573G>C | CA349851679 | COL3A1 | c.1227G>C (p.Glu409Asp) c.1326G>C (p.Glu442Asp) | |
2 | g.188994573G>T | CA349851680 | COL3A1 | c.1227G>T (p.Glu409Asp) c.1326G>T (p.Glu442Asp) | |
2 | g.188994574C>A | CA349851681 | COL3A1 | c.1228C>A (p.Pro410Thr) c.1327C>A (p.Pro443Thr) | |
2 | g.188994574C= | CA1315398582 | COL3A1 | c.1228C= (p.Pro410=) c.1327C= (p.Pro443=) | |
2 | g.188994574C>G | CA349851682 | COL3A1 | c.1228C>G (p.Pro410Ala) c.1327C>G (p.Pro443Ala) | |
2 | g.188994574C>T | CA349851683 | COL3A1 | c.1228C>T (p.Pro410Ser) c.1327C>T (p.Pro443Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994575C>A | CA349851684 | COL3A1 | c.1229C>A (p.Pro410His) c.1328C>A (p.Pro443His) | |
2 | g.188994575C>G | CA349851685 | COL3A1 | c.1229C>G (p.Pro410Arg) c.1328C>G (p.Pro443Arg) | |
2 | g.188994575C>T | CA349851686 | COL3A1 | c.1229C>T (p.Pro410Leu) c.1328C>T (p.Pro443Leu) | |
2 | g.188994576C>A | CA62595764 | COL3A1 | c.1230C>A (p.Pro410=) c.1329C>A (p.Pro443=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994576C= | CA1315398583 | COL3A1 | c.1230C= (p.Pro410=) c.1329C= (p.Pro443=) | |
2 | g.188994576C>G | CA430309539 | COL3A1 | c.1230C>G (p.Pro410=) c.1329C>G (p.Pro443=) | |
2 | g.188994576C>T | CA074156 | COL3A1 | c.1230C>T (p.Pro410=) c.1329C>T (p.Pro443=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188994577G>A | CA004225 | COL3A1 | c.1231G>A (p.Gly411Arg) c.1330G>A (p.Gly444Arg) | ClinVar dbSNP COSMIC COSMIC |
2 | g.188994577G>C | CA004230 | COL3A1 | c.1231G>C (p.Gly411Arg) c.1330G>C (p.Gly444Arg) | ClinVar dbSNP |
2 | g.188994577G= | CA1315398584 | COL3A1 | c.1231G= (p.Gly411=) c.1330G= (p.Gly444=) | |
2 | g.188994577G>T | CA349851687 | COL3A1 | c.1231G>T (p.Gly411Ter) c.1330G>T (p.Gly444Ter) | |
2 | g.188994578G>A | CA349851688 | COL3A1 | c.1232G>A (p.Gly411Glu) c.1331G>A (p.Gly444Glu) | |
2 | g.188994578G>C | CA349851689 | COL3A1 | c.1232G>C (p.Gly411Ala) c.1331G>C (p.Gly444Ala) | |
2 | g.188994578G>T | CA349851690 | COL3A1 | c.1232G>T (p.Gly411Val) c.1331G>T (p.Gly444Val) | |
2 | g.188994579A>C | CA430309540 | COL3A1 | c.1233A>C (p.Gly411=) c.1332A>C (p.Gly444=) | |
2 | g.188994579A>G | CA430309541 | COL3A1 | c.1233A>G (p.Gly411=) c.1332A>G (p.Gly444=) | |
2 | g.188994579A>T | CA430309542 | COL3A1 | c.1233A>T (p.Gly411=) c.1332A>T (p.Gly444=) | |
2 | g.188994580C>A | CA349851691 | COL3A1 | c.1234C>A (p.Pro412Thr) c.1333C>A (p.Pro445Thr) | |
2 | g.188994580C= | CA1315398585 | COL3A1 | c.1234C= (p.Pro412=) c.1333C= (p.Pro445=) | |
2 | g.188994580C>G | CA349851693 | COL3A1 | c.1234C>G (p.Pro412Ala) c.1333C>G (p.Pro445Ala) | gnomAD v4 |
2 | g.188994580C>T | CA349851692 | COL3A1 | c.1234C>T (p.Pro412Ser) c.1333C>T (p.Pro445Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994581C>A | CA349851694 | COL3A1 | c.1235C>A (p.Pro412Gln) c.1334C>A (p.Pro445Gln) | dbSNP |
2 | g.188994581C= | CA1315398586 | COL3A1 | c.1235C= (p.Pro412=) c.1334C= (p.Pro445=) | |
2 | g.188994581C>G | CA349851695 | COL3A1 | c.1235C>G (p.Pro412Arg) c.1334C>G (p.Pro445Arg) | |
2 | g.188994581C>T | CA349851696 | COL3A1 | c.1235C>T (p.Pro412Leu) c.1334C>T (p.Pro445Leu) | ClinVar dbSNP |
2 | g.188994582A= | CA1315398587 | COL3A1 | c.1236A= (p.Pro412=) c.1335A= (p.Pro445=) | |
2 | g.188994582A>C | CA430309543 | COL3A1 | c.1236A>C (p.Pro412=) c.1335A>C (p.Pro445=) | |
2 | g.188994582A>G | CA430309544 | COL3A1 | c.1236A>G (p.Pro412=) c.1335A>G (p.Pro445=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994582A>T | CA430309545 | COL3A1 | c.1236A>T (p.Pro412=) c.1335A>T (p.Pro445=) | |
2 | g.188994583C>A | CA349851697 | COL3A1 | c.1237C>A (p.Arg413Ser) c.1336C>A (p.Arg446Ser) | |
2 | g.188994583C= | CA1315398588 | COL3A1 | c.1237C= (p.Arg413=) c.1336C= (p.Arg446=) | |
2 | g.188994583C>G | CA349851698 | COL3A1 | c.1237C>G (p.Arg413Gly) c.1336C>G (p.Arg446Gly) | |
2 | g.188994583C>T | CA349851699 | COL3A1 | c.1237C>T (p.Arg413Cys) c.1336C>T (p.Arg446Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994584G>A | CA074160 | COL3A1 | c.1238G>A (p.Arg413His) c.1337G>A (p.Arg446His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994584G>C | CA074164 | COL3A1 | c.1238G>C (p.Arg413Pro) c.1337G>C (p.Arg446Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994584G= | CA1315398589 | COL3A1 | c.1238G= (p.Arg413=) c.1337G= (p.Arg446=) | |
2 | g.188994584G>T | CA349851700 | COL3A1 | c.1238G>T (p.Arg413Leu) c.1337G>T (p.Arg446Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994585T>A | CA430309546 | COL3A1 | c.1239T>A (p.Arg413=) c.1338T>A (p.Arg446=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994585T>C | CA430309547 | COL3A1 | c.1239T>C (p.Arg413=) c.1338T>C (p.Arg446=) | |
2 | g.188994585T>G | CA430309548 | COL3A1 | c.1239T>G (p.Arg413=) c.1338T>G (p.Arg446=) | |
2 | g.188994585T= | CA1315398590 | COL3A1 | c.1239T= (p.Arg413=) c.1338T= (p.Arg446=) | |
2 | g.188994586G>A | CA349851701 | COL3A1 | c.1240G>A (p.Gly414Ser) c.1339G>A (p.Gly447Ser) | |
2 | g.188994586G>C | CA349851702 | COL3A1 | c.1240G>C (p.Gly414Arg) c.1339G>C (p.Gly447Arg) | |
2 | g.188994586G>T | CA349851703 | COL3A1 | c.1240G>T (p.Gly414Cys) c.1339G>T (p.Gly447Cys) | |
2 | g.188994587G>A | CA349851704 | COL3A1 | c.1241G>A (p.Gly414Asp) c.1340G>A (p.Gly447Asp) | COSMIC |
2 | g.188994587G>C | CA349851705 | COL3A1 | c.1241G>C (p.Gly414Ala) c.1340G>C (p.Gly447Ala) | |
2 | g.188994587G>T | CA349851706 | COL3A1 | c.1241G>T (p.Gly414Val) c.1340G>T (p.Gly447Val) | |
2 | g.188994588T>A | CA430309549 | COL3A1 | c.1242T>A (p.Gly414=) c.1341T>A (p.Gly447=) | |
2 | g.188994588T>C | CA430309550 | COL3A1 | c.1242T>C (p.Gly414=) c.1341T>C (p.Gly447=) | |
2 | g.188994588T>G | CA430309551 | COL3A1 | c.1242T>G (p.Gly414=) c.1341T>G (p.Gly447=) | gnomAD v4 |
2 | g.188994589G>A | CA349851707 | COL3A1 | c.1243G>A (p.Glu415Lys) c.1342G>A (p.Glu448Lys) | ClinVar dbSNP |
2 | g.188994589G>C | CA349851709 | COL3A1 | c.1243G>C (p.Glu415Gln) c.1342G>C (p.Glu448Gln) | |
2 | g.188994589G= | CA1315398591 | COL3A1 | c.1243G= (p.Glu415=) c.1342G= (p.Glu448=) | |
2 | g.188994589G>T | CA349851708 | COL3A1 | c.1243G>T (p.Glu415Ter) c.1342G>T (p.Glu448Ter) | |
2 | g.188994590A>C | CA349851710 | COL3A1 | c.1244A>C (p.Glu415Ala) c.1343A>C (p.Glu448Ala) | |
2 | g.188994590A>G | CA349851711 | COL3A1 | c.1244A>G (p.Glu415Gly) c.1343A>G (p.Glu448Gly) | COSMIC COSMIC |
2 | g.188994590A>T | CA349851712 | COL3A1 | c.1244A>T (p.Glu415Val) c.1343A>T (p.Glu448Val) | |
2 | g.188994591A>C | CA349851713 | COL3A1 | c.1245A>C (p.Glu415Asp) c.1344A>C (p.Glu448Asp) | |
2 | g.188994591A>G | CA430309552 | COL3A1 | c.1245A>G (p.Glu415=) c.1344A>G (p.Glu448=) | gnomAD v4 |
2 | g.188994591A>T | CA349851714 | COL3A1 | c.1245A>T (p.Glu415Asp) c.1344A>T (p.Glu448Asp) | |
2 | g.188994592C>A | CA349851715 | COL3A1 | c.1246C>A (p.Arg416Ser) c.1345C>A (p.Arg449Ser) | |
2 | g.188994592C= | CA1315398592 | COL3A1 | c.1246C= (p.Arg416=) c.1345C= (p.Arg449=) | |
2 | g.188994592C>G | CA349851716 | COL3A1 | c.1246C>G (p.Arg416Gly) c.1345C>G (p.Arg449Gly) | gnomAD v4 |
2 | g.188994592C>T | CA349851717 | COL3A1 | c.1246C>T (p.Arg416Cys) c.1345C>T (p.Arg449Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188994593G>A | CA62595775 | COL3A1 | c.1247G>A (p.Arg416His) c.1346G>A (p.Arg449His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188994593G>C | CA349851718 | COL3A1 | c.1247G>C (p.Arg416Pro) c.1346G>C (p.Arg449Pro) | |
2 | g.188994593G= | CA1315398593 | COL3A1 | c.1247G= (p.Arg416=) c.1346G= (p.Arg449=) | |
2 | g.188994593G>T | CA349851719 | COL3A1 | c.1247G>T (p.Arg416Leu) c.1346G>T (p.Arg449Leu) | |
2 | g.188994594C>A | CA430309553 | COL3A1 | c.1248C>A (p.Arg416=) c.1347C>A (p.Arg449=) | ClinVar dbSNP |
2 | g.188994594C= | CA1315398594 | COL3A1 | c.1248C= (p.Arg416=) c.1347C= (p.Arg449=) | |
2 | g.188994594C>G | CA430309554 | COL3A1 | c.1248C>G (p.Arg416=) c.1347C>G (p.Arg449=) | ClinVar |
2 | g.188994594C>T | CA074200 | COL3A1 | c.1248C>T (p.Arg416=) c.1347C>T (p.Arg449=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994595G>A | CA004237 | COL3A1 | c.1248+1G>A (n.1248+1G>A) c.1347+1G>A (n.1347+1G>A) | ClinVar dbSNP COSMIC COSMIC |
2 | g.188994595G>C | CA349851720 | COL3A1 | c.1248+1G>C (n.1248+1G>C) c.1347+1G>C (n.1347+1G>C) | |
2 | g.188994595G= | CA1315398595 | COL3A1 | c.1248+1G= (n.1248+1G=) c.1347+1G= (n.1347+1G=) | |
2 | g.188994595G>T | CA004243 | COL3A1 | c.1248+1G>T (n.1248+1G>T) c.1347+1G>T (n.1347+1G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.188994596T>A | CA349851721 | COL3A1 | c.1248+2T>A (n.1248+2T>A) c.1347+2T>A (n.1347+2T>A) | |
2 | g.188994596T>C | CA349851722 | COL3A1 | c.1248+2T>C (n.1248+2T>C) c.1347+2T>C (n.1347+2T>C) | |
2 | g.188994596T>G | CA349851723 | COL3A1 | c.1248+2T>G (n.1248+2T>G) c.1347+2T>G (n.1347+2T>G) | |
2 | g.188994597A= | CA1315398596 | COL3A1 | c.1248+3A= (n.1248+3A=) c.1347+3A= (n.1347+3A=) | |
2 | g.188994597A>C | CA004246 | COL3A1 | c.1248+3A>C (n.1248+3A>C) c.1347+3A>C (n.1347+3A>C) | ClinVar dbSNP |
2 | g.188994598A= | CA1315398597 | COL3A1 | c.1248+4A= (n.1248+4A=) c.1347+4A= (n.1347+4A=) | |
2 | g.188994598A>C | CA074190 | COL3A1 | c.1248+4A>C (n.1248+4A>C) c.1347+4A>C (n.1347+4A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994598A>G | CA538461831 | COL3A1 | c.1248+4A>G (n.1248+4A>G) c.1347+4A>G (n.1347+4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |