Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202515407_202524196del | CA915941641 | BMPR2 | c.621+428_967+3995del c.552+428_898+3995del | ClinVar |
2 | g.202519045A>C | CA350340644 | BMPR2 | c.845A>C (p.Tyr282Ser) c.776A>C (p.Tyr259Ser) | |
2 | g.202519045A>G | CA350340645 | BMPR2 | c.845A>G (p.Tyr282Cys) c.776A>G (p.Tyr259Cys) | |
2 | g.202519045A>T | CA350340646 | BMPR2 | c.845A>T (p.Tyr282Phe) c.776A>T (p.Tyr259Phe) | |
2 | g.202519046T>A | CA350340647 | BMPR2 | c.846T>A (p.Tyr282Ter) c.777T>A (p.Tyr259Ter) | ClinVar dbSNP COSMIC |
2 | g.202519046T>C | CA430839771 | BMPR2 | c.846T>C (p.Tyr282=) c.777T>C (p.Tyr259=) | |
2 | g.202519046T>G | CA324555 | BMPR2 | c.846T>G (p.Tyr282Ter) c.777T>G (p.Tyr259Ter) | ClinVar dbSNP |
2 | g.202519046T= | CA1321539747 | BMPR2 | c.846T= (p.Tyr282=) c.777T= (p.Tyr259=) | |
2 | g.202519047C>A | CA350340648 | BMPR2 | c.847C>A (p.Pro283Thr) c.778C>A (p.Pro260Thr) | COSMIC |
2 | g.202519047C= | CA1321539748 | BMPR2 | c.847C= (p.Pro283=) c.778C= (p.Pro260=) | |
2 | g.202519047C>G | CA350340649 | BMPR2 | c.847C>G (p.Pro283Ala) c.778C>G (p.Pro260Ala) | |
2 | g.202519047C>T | CA2061214 | BMPR2 | c.847C>T (p.Pro283Ser) c.778C>T (p.Pro260Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202519048C>A | CA350340650 | BMPR2 | c.848C>A (p.Pro283His) c.779C>A (p.Pro260His) | gnomAD v4 |
2 | g.202519048C= | CA1321539749 | BMPR2 | c.848C= (p.Pro283=) c.779C= (p.Pro260=) | |
2 | g.202519048C>G | CA350340651 | BMPR2 | c.848C>G (p.Pro283Arg) c.779C>G (p.Pro260Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202519048C>T | CA350340652 | BMPR2 | c.848C>T (p.Pro283Leu) c.779C>T (p.Pro260Leu) | |
2 | g.202519048_202519049insATA | CA2586965539 | BMPR2 | c.848_849insATA (p.Pro283_Asn284insTyr) c.779_780insATA (p.Pro260_Asn261insTyr) | |
2 | g.202519049C>A | CA430839772 | BMPR2 | c.849C>A (p.Pro283=) c.780C>A (p.Pro260=) | |
2 | g.202519049C= | CA1321539750 | BMPR2 | c.849C= (p.Pro283=) c.780C= (p.Pro260=) | |
2 | g.202519049C>G | CA430839773 | BMPR2 | c.849C>G (p.Pro283=) c.780C>G (p.Pro260=) | |
2 | g.202519049C>T | CA430839774 | BMPR2 | c.849C>T (p.Pro283=) c.780C>T (p.Pro260=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202519050A>C | CA350340653 | BMPR2 | c.850A>C (p.Asn284His) c.781A>C (p.Asn261His) | |
2 | g.202519050A>G | CA350340655 | BMPR2 | c.850A>G (p.Asn284Asp) c.781A>G (p.Asn261Asp) | |
2 | g.202519050A>T | CA350340654 | BMPR2 | c.850A>T (p.Asn284Tyr) c.781A>T (p.Asn261Tyr) | |
2 | g.202519051A= | CA1321539751 | BMPR2 | c.851A= (p.Asn284=) c.782A= (p.Asn261=) | |
2 | g.202519051A>C | CA350340656 | BMPR2 | c.851A>C (p.Asn284Thr) c.782A>C (p.Asn261Thr) | |
2 | g.202519051A>G | CA2061215 | BMPR2 | c.851A>G (p.Asn284Ser) c.782A>G (p.Asn261Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519051A>T | CA350340657 | BMPR2 | c.851A>T (p.Asn284Ile) c.782A>T (p.Asn261Ile) | |
2 | g.202519052T>A | CA350340658 | BMPR2 | c.852T>A (p.Asn284Lys) c.783T>A (p.Asn261Lys) | |
2 | g.202519052T>C | CA430839775 | BMPR2 | c.852T>C (p.Asn284=) c.783T>C (p.Asn261=) | dbSNP |
2 | g.202519052T>G | CA350340659 | BMPR2 | c.852T>G (p.Asn284Lys) c.783T>G (p.Asn261Lys) | |
2 | g.202519052T= | CA1321539752 | BMPR2 | c.852T= (p.Asn284=) c.783T= (p.Asn261=) | |
2 | g.202519052_202519053insA | CA915941648 | BMPR2 | c.852_852+1insA (n.852_852+1insA) c.783_783+1insA (n.783_783+1insA) | ClinVar dbSNP |
2 | g.202519053G>A | CA350340660 | BMPR2 | c.852+1G>A (n.852+1G>A) c.783+1G>A (n.783+1G>A) | ClinVar dbSNP |
2 | g.202519053G>C | CA350340661 | BMPR2 | c.852+1G>C (n.852+1G>C) c.783+1G>C (n.783+1G>C) | ClinVar dbSNP |
2 | g.202519053G= | CA1321539753 | BMPR2 | c.852+1G= (n.852+1G=) c.783+1G= (n.783+1G=) | |
2 | g.202519053G>T | CA350340662 | BMPR2 | c.852+1G>T (n.852+1G>T) c.783+1G>T (n.783+1G>T) | |
2 | g.202519054T>A | CA350340663 | BMPR2 | c.852+2T>A (n.852+2T>A) c.783+2T>A (n.783+2T>A) | |
2 | g.202519054T>C | CA350340664 | BMPR2 | c.852+2T>C (n.852+2T>C) c.783+2T>C (n.783+2T>C) | |
2 | g.202519054T>G | CA350340665 | BMPR2 | c.852+2T>G (n.852+2T>G) c.783+2T>G (n.783+2T>G) | |
2 | g.202519055A>C | CA2586965541 | BMPR2 | c.852+3A>C (n.852+3A>C) c.783+3A>C (n.783+3A>C) | |
2 | g.202519056A= | CA1321539754 | BMPR2 | c.852+4A= (n.852+4A=) c.783+4A= (n.783+4A=) | |
2 | g.202519056A>G | CA538972598 | BMPR2 | c.852+4A>G (n.852+4A>G) c.783+4A>G (n.783+4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202519060C= | CA1321539755 | BMPR2 | c.852+8C= (n.852+8C=) c.783+8C= (n.783+8C=) | |
2 | g.202519060C>G | CA1321539756 | BMPR2 | c.852+8C>G (n.852+8C>G) c.783+8C>G (n.783+8C>G) | dbSNP |
2 | g.202519064A= | CA1321539757 | BMPR2 | c.852+12A= (n.852+12A=) c.783+12A= (n.783+12A=) | |
2 | g.202519064A>G | CA1321539758 | BMPR2 | c.852+12A>G (n.852+12A>G) c.783+12A>G (n.783+12A>G) | dbSNP gnomAD v4 |
2 | g.202519065T>C | CA2577215592 | BMPR2 | c.852+13T>C (n.852+13T>C) c.783+13T>C (n.783+13T>C) | gnomAD v4 |
2 | g.202519065T>G | CA2662705632 | BMPR2 | c.852+13T>G (n.852+13T>G) c.783+13T>G (n.783+13T>G) | gnomAD v4 |
2 | g.202519067G>A | CA763426625 | BMPR2 | c.852+15G>A (n.852+15G>A) c.783+15G>A (n.783+15G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519067G= | CA1321539759 | BMPR2 | c.852+15G= (n.852+15G=) c.783+15G= (n.783+15G=) | |
2 | g.202519068A>G | CA2662705633 | BMPR2 | c.852+16A>G (n.852+16A>G) c.783+16A>G (n.783+16A>G) | gnomAD v4 |
2 | g.202519070A= | CA1321539760 | BMPR2 | c.852+18A= (n.852+18A=) c.783+18A= (n.783+18A=) | |
2 | g.202519070A>G | CA2061216 | BMPR2 | c.852+18A>G (n.852+18A>G) c.783+18A>G (n.783+18A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202519071A>G | CA2662705634 | BMPR2 | c.852+19A>G (n.852+19A>G) c.783+19A>G (n.783+19A>G) | gnomAD v4 |
2 | g.202519074_202519075del | CA2662705635 | BMPR2 | c.852+22_852+23del (n.852+22_852+23del) c.783+22_783+23del (n.783+22_783+23del) | gnomAD v4 |
2 | g.202519076C>A | CA2662705636 | BMPR2 | c.852+24C>A (n.852+24C>A) c.783+24C>A (n.783+24C>A) | gnomAD v4 |
2 | g.202519076_202519078delinsCTG | CA1321539761 | BMPR2 | c.852+24_852+26delinsCTG (n.852+24_852+26delinsCTG) c.783+24_783+26delinsCTG (n.783+24_783+26delinsCTG) | |
2 | g.202519077T>C | CA2061218 | BMPR2 | c.852+25T>C (n.852+25T>C) c.783+25T>C (n.783+25T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202519077T= | CA1321539762 | BMPR2 | c.852+25T= (n.852+25T=) c.783+25T= (n.783+25T=) | |
2 | g.202519077_202519078del | CA2061217 | BMPR2 | c.852+25_852+26del (n.852+25_852+26del) c.783+25_783+26del (n.783+25_783+26del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519078G>A | CA2662705637 | BMPR2 | c.852+26G>A (n.852+26G>A) c.783+26G>A (n.783+26G>A) | gnomAD v4 |
2 | g.202519080G>A | CA2701464044 | BMPR2 | c.852+28G>A (n.852+28G>A) c.783+28G>A (n.783+28G>A) | dbSNP |
2 | g.202519080G>T | CA2662705638 | BMPR2 | c.852+28G>T (n.852+28G>T) c.783+28G>T (n.783+28G>T) | gnomAD v4 |
2 | g.202519083C>A | CA2577215593 | BMPR2 | c.852+31C>A (n.852+31C>A) c.783+31C>A (n.783+31C>A) | |
2 | g.202519084A= | CA1321539763 | BMPR2 | c.852+32A= (n.852+32A=) c.783+32A= (n.783+32A=) | |
2 | g.202519084A>G | CA1041341627 | BMPR2 | c.852+32A>G (n.852+32A>G) c.783+32A>G (n.783+32A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519084A>T | CA538972606 | BMPR2 | c.852+32A>T (n.852+32A>T) c.783+32A>T (n.783+32A>T) | dbSNP gnomAD v2 |
2 | g.202519085G>A | CA2753905651 | BMPR2 | c.852+33G>A (n.852+33G>A) c.783+33G>A (n.783+33G>A) | |
2 | g.202519088G>A | CA2061219 | BMPR2 | c.852+36G>A (n.852+36G>A) c.783+36G>A (n.783+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519088G= | CA1321539764 | BMPR2 | c.852+36G= (n.852+36G=) c.783+36G= (n.783+36G=) | |
2 | g.202519089T>C | CA2662705639 | BMPR2 | c.852+37T>C (n.852+37T>C) c.783+37T>C (n.783+37T>C) | gnomAD v4 |
2 | g.202519091G>C | CA2577215594 | BMPR2 | c.852+39G>C (n.852+39G>C) c.783+39G>C (n.783+39G>C) | |
2 | g.202519093G>A | CA2061220 | BMPR2 | c.852+41G>A (n.852+41G>A) c.783+41G>A (n.783+41G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202519093G= | CA1321539765 | BMPR2 | c.852+41G= (n.852+41G=) c.783+41G= (n.783+41G=) | |
2 | g.202519094G>T | CA2662705640 | BMPR2 | c.852+42G>T (n.852+42G>T) c.783+42G>T (n.783+42G>T) | gnomAD v4 |
2 | g.202519095C>T | CA2577215595 | BMPR2 | c.852+43C>T (n.852+43C>T) c.783+43C>T (n.783+43C>T) | |
2 | g.202519095_202519096delinsCT | CA1321539766 | BMPR2 | c.852+43_852+44delinsCT (n.852+43_852+44delinsCT) c.783+43_783+44delinsCT (n.783+43_783+44delinsCT) | |
2 | g.202519097del | CA538972610 | BMPR2 | c.852+45del (n.852+45del) c.783+45del (n.783+45del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519096_202519098delinsTTA | CA1321539767 | BMPR2 | c.852+44_852+46delinsTTA (n.852+44_852+46delinsTTA) c.783+44_783+46delinsTTA (n.783+44_783+46delinsTTA) | |
2 | g.202519097T>C | CA1321539769 | BMPR2 | c.852+45T>C (n.852+45T>C) c.783+45T>C (n.783+45T>C) | dbSNP gnomAD v4 |
2 | g.202519097T= | CA1321539768 | BMPR2 | c.852+45T= (n.852+45T=) c.783+45T= (n.783+45T=) | |
2 | g.202519098_202519099del | CA538972613 | BMPR2 | c.852+46_852+47del (n.852+46_852+47del) c.783+46_783+47del (n.783+46_783+47del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202519098A= | CA1321539770 | BMPR2 | c.852+46A= (n.852+46A=) c.783+46A= (n.783+46A=) | |
2 | g.202519098A>T | CA1041341630 | BMPR2 | c.852+46A>T (n.852+46A>T) c.783+46A>T (n.783+46A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519099T>C | CA2577215596 | BMPR2 | c.852+47T>C (n.852+47T>C) c.783+47T>C (n.783+47T>C) | gnomAD v4 |
2 | g.202519099T>G | CA1041341632 | BMPR2 | c.852+47T>G (n.852+47T>G) c.783+47T>G (n.783+47T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519099T= | CA1321539771 | BMPR2 | c.852+47T= (n.852+47T=) c.783+47T= (n.783+47T=) | |
2 | g.202519100G>A | CA2061221 | BMPR2 | c.852+48G>A (n.852+48G>A) c.783+48G>A (n.783+48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519100G>C | CA1041341635 | BMPR2 | c.852+48G>C (n.852+48G>C) c.783+48G>C (n.783+48G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519100G= | CA1321539772 | BMPR2 | c.852+48G= (n.852+48G=) c.783+48G= (n.783+48G=) | |
2 | g.202519101C>A | CA2577215597 | BMPR2 | c.852+49C>A (n.852+49C>A) c.783+49C>A (n.783+49C>A) | |
2 | g.202519101_202519102insAGGCATGAGCCACCACACCCAGCCTAGAATGGTTTTCTTTAGCAATTTTAGTTCCACTGCACAGTG | CA2753905652 | BMPR2 | c.852+49_852+50insAGGCATGAGCCACCACACCCAGCCTAGAATGGTTTTCTTTAGCAATTTTAGTTCCACTGCACAGTG (n.852+49_852+50insAGGCATGAGCCACCACACCCAGCCTAGAATGGTTTTCTTTAGCAATTTTAGTTCCACTGCACAGTG) c.783+49_783+50insAGGCATGAGCCACCACACCCAGCCTAGAATGGTTTTCTTTAGCAATTTTAGTTCCACTGCACAGTG (n.783+49_783+50insAGGCATGAGCCACCACACCCAGCCTAGAATGGTTTTCTTTAGCAATTTTAGTTCCACTGCACAGTG) | |
2 | g.202519102C>A | CA2662705641 | BMPR2 | c.852+50C>A (n.852+50C>A) c.783+50C>A (n.783+50C>A) | gnomAD v4 |
2 | g.202519102C= | CA1321539773 | BMPR2 | c.852+50C= (n.852+50C=) c.783+50C= (n.783+50C=) | |
2 | g.202519102C>G | CA2061222 | BMPR2 | c.852+50C>G (n.852+50C>G) c.783+50C>G (n.783+50C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519102C>T | CA538972627 | BMPR2 | c.852+50C>T (n.852+50C>T) c.783+50C>T (n.783+50C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519104G>A | CA2577215598 | BMPR2 | c.852+52G>A (n.852+52G>A) c.783+52G>A (n.783+52G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519105T>A | CA2662705642 | BMPR2 | c.852+53T>A (n.852+53T>A) c.783+53T>A (n.783+53T>A) | gnomAD v4 |
2 | g.202519106A>G | CA2662705643 | BMPR2 | c.852+54A>G (n.852+54A>G) c.783+54A>G (n.783+54A>G) | gnomAD v4 |
2 | g.202519107A>C | CA2662705644 | BMPR2 | c.852+55A>C (n.852+55A>C) c.783+55A>C (n.783+55A>C) | gnomAD v4 |
2 | g.202519109C>A | CA2662705645 | BMPR2 | c.852+57C>A (n.852+57C>A) c.783+57C>A (n.783+57C>A) | gnomAD v4 |
2 | g.202519110C>A | CA2662705646 | BMPR2 | c.852+58C>A (n.852+58C>A) c.783+58C>A (n.783+58C>A) | gnomAD v4 |
2 | g.202519110C>T | CA2509455362 | BMPR2 | c.852+58C>T (n.852+58C>T) c.783+58C>T (n.783+58C>T) | gnomAD v4 |
2 | g.202519111C>A | CA2577215599 | BMPR2 | c.852+59C>A (n.852+59C>A) c.783+59C>A (n.783+59C>A) | |
2 | g.202519111C>T | CA2662705647 | BMPR2 | c.852+59C>T (n.852+59C>T) c.783+59C>T (n.783+59C>T) | gnomAD v4 |
2 | g.202519112A>G | CA2662705648 | BMPR2 | c.852+60A>G (n.852+60A>G) c.783+60A>G (n.783+60A>G) | gnomAD v4 |
2 | g.202519114C>A | CA64015935 | BMPR2 | c.852+62C>A (n.852+62C>A) c.783+62C>A (n.783+62C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519114C= | CA1321539774 | BMPR2 | c.852+62C= (n.852+62C=) c.783+62C= (n.783+62C=) | |
2 | g.202519115A= | CA1321539776 | BMPR2 | c.852+63A= (n.852+63A=) c.783+63A= (n.783+63A=) | |
2 | g.202519115A>C | CA1321539775 | BMPR2 | c.852+63A>C (n.852+63A>C) c.783+63A>C (n.783+63A>C) | dbSNP |
2 | g.202519115A>T | CA64015941 | BMPR2 | c.852+63A>T (n.852+63A>T) c.783+63A>T (n.783+63A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519116C>A | CA763426650 | BMPR2 | c.852+64C>A (n.852+64C>A) c.783+64C>A (n.783+64C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519116C= | CA1321539777 | BMPR2 | c.852+64C= (n.852+64C=) c.783+64C= (n.783+64C=) | |
2 | g.202519116C>G | CA2662705649 | BMPR2 | c.852+64C>G (n.852+64C>G) c.783+64C>G (n.783+64C>G) | gnomAD v4 |
2 | g.202519116C>T | CA2662705650 | BMPR2 | c.852+64C>T (n.852+64C>T) c.783+64C>T (n.783+64C>T) | gnomAD v4 |
2 | g.202519120T>C | CA2662705651 | BMPR2 | c.852+68T>C (n.852+68T>C) c.783+68T>C (n.783+68T>C) | gnomAD v4 |
2 | g.202519120T>G | CA1041341646 | BMPR2 | c.852+68T>G (n.852+68T>G) c.783+68T>G (n.783+68T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519120T= | CA1321539778 | BMPR2 | c.852+68T= (n.852+68T=) c.783+68T= (n.783+68T=) | |
2 | g.202519122dup | CA2577215600 | BMPR2 | c.852+70dup (n.852+70dup) c.783+70dup (n.783+70dup) | |
2 | g.202519124G>A | CA2662705652 | BMPR2 | c.852+72G>A (n.852+72G>A) c.783+72G>A (n.783+72G>A) | gnomAD v4 |
2 | g.202519124_202519125del | CA2753905653 | BMPR2 | c.852+72_852+73del (n.852+72_852+73del) c.783+72_783+73del (n.783+72_783+73del) | |
2 | g.202519125G>A | CA2662705653 | BMPR2 | c.852+73G>A (n.852+73G>A) c.783+73G>A (n.783+73G>A) | gnomAD v4 |
2 | g.202519125G>C | CA2662705654 | BMPR2 | c.852+73G>C (n.852+73G>C) c.783+73G>C (n.783+73G>C) | gnomAD v4 |
2 | g.202519126C>A | CA2662705655 | BMPR2 | c.852+74C>A (n.852+74C>A) c.783+74C>A (n.783+74C>A) | gnomAD v4 |
2 | g.202519126C= | CA1321539779 | BMPR2 | c.852+74C= (n.852+74C=) c.783+74C= (n.783+74C=) | |
2 | g.202519126C>T | CA64015943 | BMPR2 | c.852+74C>T (n.852+74C>T) c.783+74C>T (n.783+74C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519126_202519127insAT | CA2753905654 | BMPR2 | c.852+74_852+75insAT (n.852+74_852+75insAT) c.783+74_783+75insAT (n.783+74_783+75insAT) | |
2 | g.202519127T>C | CA1321539781 | BMPR2 | c.852+75T>C (n.852+75T>C) c.783+75T>C (n.783+75T>C) | dbSNP gnomAD v4 |
2 | g.202519127T= | CA1321539780 | BMPR2 | c.852+75T= (n.852+75T=) c.783+75T= (n.783+75T=) | |
2 | g.202519128A= | CA1321539783 | BMPR2 | c.852+76A= (n.852+76A=) c.783+76A= (n.783+76A=) | |
2 | g.202519128A>G | CA1321539782 | BMPR2 | c.852+76A>G (n.852+76A>G) c.783+76A>G (n.783+76A>G) | dbSNP gnomAD v4 |
2 | g.202519128_202519129del | CA2662705656 | BMPR2 | c.852+76_852+77del (n.852+76_852+77del) c.783+76_783+77del (n.783+76_783+77del) | gnomAD v4 |
2 | g.202519131_202519154dup | CA538972634 | BMPR2 | c.852+79_852+102dup (n.852+79_852+102dup) c.783+79_783+102dup (n.783+79_783+102dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519130G>A | CA763426662 | BMPR2 | c.852+78G>A (n.852+78G>A) c.783+78G>A (n.783+78G>A) | dbSNP gnomAD v4 |
2 | g.202519130G>C | CA763426664 | BMPR2 | c.852+78G>C (n.852+78G>C) c.783+78G>C (n.783+78G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519130G= | CA1321539784 | BMPR2 | c.852+78G= (n.852+78G=) c.783+78G= (n.783+78G=) | |
2 | g.202519131_202519132del | CA2753905655 | BMPR2 | c.852+79_852+80del (n.852+79_852+80del) c.783+79_783+80del (n.783+79_783+80del) | |
2 | g.202519132C>A | CA2577215601 | BMPR2 | c.852+80C>A (n.852+80C>A) c.783+80C>A (n.783+80C>A) | gnomAD v4 |
2 | g.202519132C= | CA1321539785 | BMPR2 | c.852+80C= (n.852+80C=) c.783+80C= (n.783+80C=) | |
2 | g.202519132C>G | CA1321539786 | BMPR2 | c.852+80C>G (n.852+80C>G) c.783+80C>G (n.783+80C>G) | dbSNP |
2 | g.202519132C>T | CA2577215602 | BMPR2 | c.852+80C>T (n.852+80C>T) c.783+80C>T (n.783+80C>T) | gnomAD v4 |
2 | g.202519133A= | CA1321539787 | BMPR2 | c.852+81A= (n.852+81A=) c.783+81A= (n.783+81A=) | |
2 | g.202519133A>C | CA64015952 | BMPR2 | c.852+81A>C (n.852+81A>C) c.783+81A>C (n.783+81A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519134G>A | CA763426666 | BMPR2 | c.852+82G>A (n.852+82G>A) c.783+82G>A (n.783+82G>A) | dbSNP gnomAD v4 |
2 | g.202519134G= | CA1321539788 | BMPR2 | c.852+82G= (n.852+82G=) c.783+82G= (n.783+82G=) | |
2 | g.202519135G>A | CA64015957 | BMPR2 | c.852+83G>A (n.852+83G>A) c.783+83G>A (n.783+83G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519135G= | CA1321539789 | BMPR2 | c.852+83G= (n.852+83G=) c.783+83G= (n.783+83G=) | |
2 | g.202519135G>T | CA2571312779 | BMPR2 | c.852+83G>T (n.852+83G>T) c.783+83G>T (n.783+83G>T) | gnomAD v4 |
2 | g.202519136T>A | CA2662705657 | BMPR2 | c.852+84T>A (n.852+84T>A) c.783+84T>A (n.783+84T>A) | gnomAD v4 |
2 | g.202519136T>G | CA1321539791 | BMPR2 | c.852+84T>G (n.852+84T>G) c.783+84T>G (n.783+84T>G) | dbSNP |
2 | g.202519136T= | CA1321539790 | BMPR2 | c.852+84T= (n.852+84T=) c.783+84T= (n.783+84T=) | |
2 | g.202519137G>T | CA2662705658 | BMPR2 | c.852+85G>T (n.852+85G>T) c.783+85G>T (n.783+85G>T) | gnomAD v4 |
2 | g.202519138G>A | CA2662705659 | BMPR2 | c.852+86G>A (n.852+86G>A) c.783+86G>A (n.783+86G>A) | gnomAD v4 |
2 | g.202519138G= | CA1321539792 | BMPR2 | c.852+86G= (n.852+86G=) c.783+86G= (n.783+86G=) | |
2 | g.202519138G>T | CA64015967 | BMPR2 | c.852+86G>T (n.852+86G>T) c.783+86G>T (n.783+86G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519138_202519139insGCAG | CA2753905656 | BMPR2 | c.852+86_852+87insGCAG (n.852+86_852+87insGCAG) c.783+86_783+87insGCAG (n.783+86_783+87insGCAG) | |
2 | g.202519139A= | CA1321539793 | BMPR2 | c.852+87A= (n.852+87A=) c.783+87A= (n.783+87A=) | |
2 | g.202519139A>G | CA538972636 | BMPR2 | c.852+87A>G (n.852+87A>G) c.783+87A>G (n.783+87A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519140T>C | CA64015968 | BMPR2 | c.852+88T>C (n.852+88T>C) c.783+88T>C (n.783+88T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519140T= | CA1321539794 | BMPR2 | c.852+88T= (n.852+88T=) c.783+88T= (n.783+88T=) | |
2 | g.202519141C>A | CA2577215603 | BMPR2 | c.852+89C>A (n.852+89C>A) c.783+89C>A (n.783+89C>A) | gnomAD v4 |
2 | g.202519141C= | CA1321539795 | BMPR2 | c.852+89C= (n.852+89C=) c.783+89C= (n.783+89C=) | |
2 | g.202519141C>G | CA1321539796 | BMPR2 | c.852+89C>G (n.852+89C>G) c.783+89C>G (n.783+89C>G) | dbSNP |
2 | g.202519141C>T | CA2662705660 | BMPR2 | c.852+89C>T (n.852+89C>T) c.783+89C>T (n.783+89C>T) | gnomAD v4 |
2 | g.202519142A>C | CA2662705661 | BMPR2 | c.852+90A>C (n.852+90A>C) c.783+90A>C (n.783+90A>C) | gnomAD v4 |
2 | g.202519143C>A | CA2577215604 | BMPR2 | c.852+91C>A (n.852+91C>A) c.783+91C>A (n.783+91C>A) | |
2 | g.202519143C= | CA1321539797 | BMPR2 | c.852+91C= (n.852+91C=) c.783+91C= (n.783+91C=) | |
2 | g.202519143C>G | CA1321539798 | BMPR2 | c.852+91C>G (n.852+91C>G) c.783+91C>G (n.783+91C>G) | dbSNP |
2 | g.202519143C>T | CA763426677 | BMPR2 | c.852+91C>T (n.852+91C>T) c.783+91C>T (n.783+91C>T) | dbSNP gnomAD v4 |
2 | g.202519144T>C | CA2662705662 | BMPR2 | c.852+92T>C (n.852+92T>C) c.783+92T>C (n.783+92T>C) | gnomAD v4 |
2 | g.202519144_202519145del | CA2753905657 | BMPR2 | c.852+92_852+93del (n.852+92_852+93del) c.783+92_783+93del (n.783+92_783+93del) | |
2 | g.202519145T>C | CA2662705663 | BMPR2 | c.852+93T>C (n.852+93T>C) c.783+93T>C (n.783+93T>C) | gnomAD v4 |