5 | g.177994043_177994060del | CA2676775410 | PROP1 | c.342+46_342+63del (n.342+46_342+63del)
| gnomAD v4 |
5 | g.177994052G>T | CA2578500657 | PROP1 | c.342+54C>A (n.342+54C>A)
| gnomAD v4 |
5 | g.177994053C>T | CA2676775414 | PROP1 | c.342+53G>A (n.342+53G>A)
| gnomAD v4 |
5 | g.177994055C>G | CA2578500658 | PROP1 | c.342+51G>C (n.342+51G>C)
| |
5 | g.177994055C>T | CA2578500659 | PROP1 | c.342+51G>A (n.342+51G>A)
| |
5 | g.177994056_177994057delinsCA | CA1603814489 | PROP1 | c.342+49_342+50delinsTG (n.342+49_342+50delinsTG)
| |
5 | g.177994059del | CA1603814490 | PROP1 | c.342+49del (n.342+49del)
| dbSNP |
5 | g.177994058A= | CA1603814491 | PROP1 | c.342+48T= (n.342+48T=)
| |
5 | g.177994058A>G | CA3587545 | PROP1 | c.342+48T>C (n.342+48T>C)
| dbSNP ExAC gnomAD v2 |
5 | g.177994060G>A | CA3587546 | PROP1 | c.342+46C>T (n.342+46C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994060G= | CA1603814492 | PROP1 | c.342+46C= (n.342+46C=)
| |
5 | g.177994063A= | CA1603814493 | PROP1 | c.342+43T= (n.342+43T=)
| |
5 | g.177994063A>G | CA564507323 | PROP1 | c.342+43T>C (n.342+43T>C)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177994064T>A | CA2578500660 | PROP1 | c.342+42A>T (n.342+42A>T)
| gnomAD v4 |
5 | g.177994064T>C | CA2676775417 | PROP1 | c.342+42A>G (n.342+42A>G)
| gnomAD v4 |
5 | g.177994064_177994069delinsTCTGCA | CA1603814494 | PROP1 | c.342+37_342+42delinsTGCAGA (n.342+37_342+42delinsTGCAGA)
| |
5 | g.177994065_177994069del | CA3587547 | PROP1 | c.342+37_342+41del (n.342+37_342+41del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994066T>C | CA2676775418 | PROP1 | c.342+40A>G (n.342+40A>G)
| gnomAD v4 |
5 | g.177994067G>A | CA2676775419 | PROP1 | c.342+39C>T (n.342+39C>T)
| gnomAD v4 |
5 | g.177994067G= | CA1603814495 | PROP1 | c.342+39C= (n.342+39C=)
| |
5 | g.177994067G>T | CA564507324 | PROP1 | c.342+39C>A (n.342+39C>A)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177994068C>T | CA2676775420 | PROP1 | c.342+38G>A (n.342+38G>A)
| gnomAD v4 |
5 | g.177994069A= | CA1603814496 | PROP1 | c.342+37T= (n.342+37T=)
| |
5 | g.177994069A>G | CA1603814497 | PROP1 | c.342+37T>C (n.342+37T>C)
| dbSNP gnomAD v4 |
5 | g.177994075T>C | CA564507325 | PROP1 | c.342+31A>G (n.342+31A>G)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177994075T= | CA1603814498 | PROP1 | c.342+31A= (n.342+31A=)
| |
5 | g.177994077C= | CA1603814499 | PROP1 | c.342+29G= (n.342+29G=)
| |
5 | g.177994077C>G | CA2676775422 | PROP1 | c.342+29G>C (n.342+29G>C)
| gnomAD v4 |
5 | g.177994077C>T | CA1603814500 | PROP1 | c.342+29G>A (n.342+29G>A)
| dbSNP |
5 | g.177994079T>C | CA3587548 | PROP1 | c.342+27A>G (n.342+27A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994079T= | CA1603814501 | PROP1 | c.342+27A= (n.342+27A=)
| |
5 | g.177994079_177994083delinsTGAGA | CA1603814502 | PROP1 | c.342+23_342+27delinsTCTCA (n.342+23_342+27delinsTCTCA)
| |
5 | g.177994080G>T | CA2578500661 | PROP1 | c.342+26C>A (n.342+26C>A)
| |
5 | g.177994085_177994086del | CA564507326 | PROP1 | c.342+25_342+26del (n.342+25_342+26del)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177994083_177994086del | CA808118421 | PROP1 | c.342+23_342+26del (n.342+23_342+26del)
| dbSNP |
5 | g.177994082G>A | CA2769598722 | PROP1 | c.342+24C>T (n.342+24C>T)
| |
5 | g.177994084G>A | CA3587550 | PROP1 | c.342+22C>T (n.342+22C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177994084G>C | CA3587549 | PROP1 | c.342+22C>G (n.342+22C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177994084G= | CA1603814503 | PROP1 | c.342+22C= (n.342+22C=)
| |
5 | g.177994087G>A | CA132897982 | PROP1 | c.342+19C>T (n.342+19C>T)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.177994087G= | CA1603814504 | PROP1 | c.342+19C= (n.342+19C=)
| |
5 | g.177994089G>C | CA808118431 | PROP1 | c.342+17C>G (n.342+17C>G)
| dbSNP |
5 | g.177994089G= | CA1603814505 | PROP1 | c.342+17C= (n.342+17C=)
| |
5 | g.177994090G>A | CA2676775427 | PROP1 | c.342+16C>T (n.342+16C>T)
| gnomAD v4 |
5 | g.177994090G>T | CA2676775428 | PROP1 | c.342+16C>A (n.342+16C>A)
| gnomAD v4 |
5 | g.177994091A= | CA1603814506 | PROP1 | c.342+15T= (n.342+15T=)
| |
5 | g.177994091A>G | CA2676775429 | PROP1 | c.342+15T>C (n.342+15T>C)
| gnomAD v4 |
5 | g.177994091A>T | CA1084892919 | PROP1 | c.342+15T>A (n.342+15T>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.177994093C>A | CA2676775430 | PROP1 | c.342+13G>T (n.342+13G>T)
| gnomAD v4 |
5 | g.177994094C>T | CA2676775431 | PROP1 | c.342+12G>A (n.342+12G>A)
| gnomAD v4 |
5 | g.177994095T>C | CA808118436 | PROP1 | c.342+11A>G (n.342+11A>G)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.177994095T= | CA1603814507 | PROP1 | c.342+11A= (n.342+11A=)
| |
5 | g.177994097G>C | CA2676775432 | PROP1 | c.342+9C>G (n.342+9C>G)
| gnomAD v4 |
5 | g.177994099G>A | CA3587551 | PROP1 | c.342+7C>T (n.342+7C>T)
| ClinVar dbSNP ExAC gnomAD v2 |
5 | g.177994099G= | CA1603814508 | PROP1 | c.342+7C= (n.342+7C=)
| |
5 | g.177994099G>T | CA132898001 | PROP1 | c.342+7C>A (n.342+7C>A)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177994101A= | CA1603814509 | PROP1 | c.342+5T= (n.342+5T=)
| |
5 | g.177994101A>G | CA915249364 | PROP1 | c.342+5T>C (n.342+5T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994101A>T | CA3587552 | PROP1 | c.342+5T>A (n.342+5T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994102T>A | CA2578500662 | PROP1 | c.342+4A>T (n.342+4A>T)
| |
5 | g.177994102T>C | CA2676775434 | PROP1 | c.342+4A>G (n.342+4A>G)
| gnomAD v4 |
5 | g.177994104A>C | CA362378936 | PROP1 | c.342+2T>G (n.342+2T>G)
| |
5 | g.177994104A>G | CA362378937 | PROP1 | c.342+2T>C (n.342+2T>C)
| |
5 | g.177994104A>T | CA362378935 | PROP1 | c.342+2T>A (n.342+2T>A)
| |
5 | g.177994105C>A | CA362378939 | PROP1 | c.342+1G>T (n.342+1G>T)
| |
5 | g.177994105C= | CA1603814510 | PROP1 | c.342+1G= (n.342+1G=)
| |
5 | g.177994105C>G | CA362378938 | PROP1 | c.342+1G>C (n.342+1G>C)
| |
5 | g.177994105C>T | CA362378940 | PROP1 | c.342+1G>A (n.342+1G>A)
| ClinVar dbSNP |
5 | g.177994106C>A | CA362378941 | PROP1 | c.342G>T (p.Gln114His)
| |
5 | g.177994106C>G | CA362378942 | PROP1 | c.342G>C (p.Gln114His)
| |
5 | g.177994106C>T | CA447990598 | PROP1 | c.342G>A (p.Gln114=)
| gnomAD v4 |
5 | g.177994107T>A | CA362378943 | PROP1 | c.341A>T (p.Gln114Leu)
| |
5 | g.177994107T>C | CA362378944 | PROP1 | c.341A>G (p.Gln114Arg)
| |
5 | g.177994107T>G | CA362378945 | PROP1 | c.341A>C (p.Gln114Pro)
| gnomAD v4 |
5 | g.177994108G>A | CA362378946 | PROP1 | c.340C>T (p.Gln114Ter)
| ClinVar dbSNP |
5 | g.177994108G>C | CA362378947 | PROP1 | c.340C>G (p.Gln114Glu)
| |
5 | g.177994108G= | CA1603814511 | PROP1 | c.340C= (p.Gln114=)
| |
5 | g.177994108G>T | CA362378948 | PROP1 | c.340C>A (p.Gln114Lys)
| ClinVar dbSNP |
5 | g.177994109G>A | CA447990603 | PROP1 | c.339C>T (p.Ile113=)
| |
5 | g.177994109G>C | CA362378949 | PROP1 | c.339C>G (p.Ile113Met)
| ClinVar dbSNP gnomAD v4 |
5 | g.177994109G= | CA1603814512 | PROP1 | c.339C= (p.Ile113=)
| |
5 | g.177994109G>T | CA447990602 | PROP1 | c.339C>A (p.Ile113=)
| |
5 | g.177994110A= | CA1603814513 | PROP1 | c.338T= (p.Ile113=)
| |
5 | g.177994110A>C | CA362378950 | PROP1 | c.338T>G (p.Ile113Ser)
| |
5 | g.177994110A>G | CA362378951 | PROP1 | c.338T>C (p.Ile113Thr)
| |
5 | g.177994110A>T | CA362378952 | PROP1 | c.338T>A (p.Ile113Asn)
| dbSNP |
5 | g.177994111T>A | CA362378955 | PROP1 | c.337A>T (p.Ile113Phe)
| |
5 | g.177994111T>C | CA362378954 | PROP1 | c.337A>G (p.Ile113Val)
| |
5 | g.177994111T>G | CA362378953 | PROP1 | c.337A>C (p.Ile113Leu)
| |
5 | g.177994112T>A | CA447990611 | PROP1 | c.336A>T (p.Arg112=)
| |
5 | g.177994112T>C | CA447990608 | PROP1 | c.336A>G (p.Arg112=)
| |
5 | g.177994112T>G | CA447990610 | PROP1 | c.336A>C (p.Arg112=)
| |
5 | g.177994113C>A | CA362378956 | PROP1 | c.335G>T (p.Arg112Leu)
| |
5 | g.177994113C= | CA1603814514 | PROP1 | c.335G= (p.Arg112=)
| |
5 | g.177994113C>G | CA362378957 | PROP1 | c.335G>C (p.Arg112Pro)
| gnomAD v4 |
5 | g.177994113C>T | CA3587553 | PROP1 | c.335G>A (p.Arg112Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.177994114G>A | CA346833 | PROP1 | c.334C>T (p.Arg112Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177994114G>C | CA3587554 | PROP1 | c.334C>G (p.Arg112Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177994114G= | CA1603814515 | PROP1 | c.334C= (p.Arg112=)
| |
5 | g.177994114G>T | CA447990615 | PROP1 | c.334C>A (p.Arg112=)
| ClinVar dbSNP |
5 | g.177994115G>A | CA447990616 | PROP1 | c.333C>T (p.Ala111=)
| gnomAD v4 |
5 | g.177994115G>C | CA447990618 | PROP1 | c.333C>G (p.Ala111=)
| |
5 | g.177994115G>T | CA447990617 | PROP1 | c.333C>A (p.Ala111=)
| |
5 | g.177994116G>A | CA362378958 | PROP1 | c.332C>T (p.Ala111Val)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177994116G>C | CA362378959 | PROP1 | c.332C>G (p.Ala111Gly)
| |
5 | g.177994116G= | CA1603814516 | PROP1 | c.332C= (p.Ala111=)
| |
5 | g.177994116G>T | CA362378960 | PROP1 | c.332C>A (p.Ala111Asp)
| gnomAD v4 |
5 | g.177994117C>A | CA362378961 | PROP1 | c.331G>T (p.Ala111Ser)
| |
5 | g.177994117C>G | CA362378962 | PROP1 | c.331G>C (p.Ala111Pro)
| |
5 | g.177994117C>T | CA362378963 | PROP1 | c.331G>A (p.Ala111Thr)
| |
5 | g.177994118C>A | CA362378964 | PROP1 | c.330G>T (p.Glu110Asp)
| |
5 | g.177994118C= | CA1603814517 | PROP1 | c.330G= (p.Glu110=)
| |
5 | g.177994118C>G | CA3587555 | PROP1 | c.330G>C (p.Glu110Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177994118C>T | CA447990631 | PROP1 | c.330G>A (p.Glu110=)
| |
5 | g.177994119T>A | CA362378966 | PROP1 | c.329A>T (p.Glu110Val)
| |
5 | g.177994119T>C | CA362378967 | PROP1 | c.329A>G (p.Glu110Gly)
| dbSNP gnomAD v4 |
5 | g.177994119T>G | CA362378965 | PROP1 | c.329A>C (p.Glu110Ala)
| |
5 | g.177994119T= | CA1603814518 | PROP1 | c.329A= (p.Glu110=)
| |
5 | g.177994120C>A | CA362378968 | PROP1 | c.328G>T (p.Glu110Ter)
| |
5 | g.177994120C>G | CA362378969 | PROP1 | c.328G>C (p.Glu110Gln)
| |
5 | g.177994120C>T | CA362378970 | PROP1 | c.328G>A (p.Glu110Lys)
| gnomAD v4 |
5 | g.177994121A>C | CA362378971 | PROP1 | c.327T>G (p.Ser109Arg)
| |
5 | g.177994121A>G | CA447990639 | PROP1 | c.327T>C (p.Ser109=)
| ClinVar |
5 | g.177994121A>T | CA362378972 | PROP1 | c.327T>A (p.Ser109Arg)
| |
5 | g.177994122C>A | CA362378973 | PROP1 | c.326G>T (p.Ser109Ile)
| |
5 | g.177994122C= | CA1603814519 | PROP1 | c.326G= (p.Ser109=)
| |
5 | g.177994122C>G | CA362378974 | PROP1 | c.326G>C (p.Ser109Thr)
| dbSNP gnomAD v4 |
5 | g.177994122C>T | CA362378975 | PROP1 | c.326G>A (p.Ser109Asn)
| gnomAD v4 |
5 | g.177994123T>A | CA362378976 | PROP1 | c.325A>T (p.Ser109Cys)
| |
5 | g.177994123T>C | CA362378977 | PROP1 | c.325A>G (p.Ser109Gly)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177994123T>G | CA362378978 | PROP1 | c.325A>C (p.Ser109Arg)
| |
5 | g.177994123T= | CA1603814520 | PROP1 | c.325A= (p.Ser109=)
| |
5 | g.177994124G>A | CA447990654 | PROP1 | c.324C>T (p.Leu108=)
| |
5 | g.177994124G>C | CA447990655 | PROP1 | c.324C>G (p.Leu108=)
| |
5 | g.177994124G= | CA1603814521 | PROP1 | c.324C= (p.Leu108=)
| |
5 | g.177994124G>T | CA3587556 | PROP1 | c.324C>A (p.Leu108=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994125A>C | CA362378981 | PROP1 | c.323T>G (p.Leu108Arg)
| |
5 | g.177994125A>G | CA362378979 | PROP1 | c.323T>C (p.Leu108Pro)
| |
5 | g.177994125A>T | CA362378980 | PROP1 | c.323T>A (p.Leu108His)
| |
5 | g.177994126G>A | CA362378982 | PROP1 | c.322C>T (p.Leu108Phe)
| |
5 | g.177994126G>C | CA3587557 | PROP1 | c.322C>G (p.Leu108Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994126G= | CA1603814522 | PROP1 | c.322C= (p.Leu108=)
| |
5 | g.177994126G>T | CA362378983 | PROP1 | c.322C>A (p.Leu108Ile)
| |
5 | g.177994127G>A | CA447990669 | PROP1 | c.321C>T (p.Gly107=)
| |
5 | g.177994127G>C | CA447990671 | PROP1 | c.321C>G (p.Gly107=)
| |
5 | g.177994127G= | CA1603814523 | PROP1 | c.321C= (p.Gly107=)
| |
5 | g.177994127G>T | CA3587558 | PROP1 | c.321C>A (p.Gly107=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177994128C>A | CA362378984 | PROP1 | c.320G>T (p.Gly107Val)
| |
5 | g.177994128C>G | CA362378985 | PROP1 | c.320G>C (p.Gly107Ala)
| |
5 | g.177994128C>T | CA362378986 | PROP1 | c.320G>A (p.Gly107Asp)
| |
5 | g.177994129C>A | CA362378987 | PROP1 | c.319G>T (p.Gly107Cys)
| |
5 | g.177994129C>G | CA362378988 | PROP1 | c.319G>C (p.Gly107Arg)
| |
5 | g.177994129C>T | CA362378989 | PROP1 | c.319G>A (p.Gly107Ser)
| gnomAD v4 |
5 | g.177994130A= | CA1603814524 | PROP1 | c.318T= (p.Thr106=)
| |
5 | g.177994130A>C | CA3587559 | PROP1 | c.318T>G (p.Thr106=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994130A>G | CA447990682 | PROP1 | c.318T>C (p.Thr106=)
| |
5 | g.177994130A>T | CA447990681 | PROP1 | c.318T>A (p.Thr106=)
| |
5 | g.177994131G>A | CA362378991 | PROP1 | c.317C>T (p.Thr106Ile)
| |
5 | g.177994131G>C | CA362378992 | PROP1 | c.317C>G (p.Thr106Ser)
| |
5 | g.177994131G>T | CA362378990 | PROP1 | c.317C>A (p.Thr106Asn)
| |
5 | g.177994132T>A | CA362378995 | PROP1 | c.316A>T (p.Thr106Ser)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177994132T>C | CA362378993 | PROP1 | c.316A>G (p.Thr106Ala)
| |
5 | g.177994132T>G | CA362378994 | PROP1 | c.316A>C (p.Thr106Pro)
| |
5 | g.177994132T= | CA1603814525 | PROP1 | c.316A= (p.Thr106=)
| |
5 | g.177994133G>A | CA447990695 | PROP1 | c.315C>T (p.Asp105=)
| |
5 | g.177994133G>C | CA362378996 | PROP1 | c.315C>G (p.Asp105Glu)
| |
5 | g.177994133G>T | CA362378997 | PROP1 | c.315C>A (p.Asp105Glu)
| gnomAD v4 |
5 | g.177994134T>A | CA362378998 | PROP1 | c.314A>T (p.Asp105Val)
| |
5 | g.177994134T>C | CA362378999 | PROP1 | c.314A>G (p.Asp105Gly)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.177994134T>G | CA362379000 | PROP1 | c.314A>C (p.Asp105Ala)
| gnomAD v4 |
5 | g.177994134T= | CA1603814526 | PROP1 | c.314A= (p.Asp105=)
| |
5 | g.177994135C>A | CA362379001 | PROP1 | c.313G>T (p.Asp105Tyr)
| |
5 | g.177994135C>G | CA362379002 | PROP1 | c.313G>C (p.Asp105His)
| |
5 | g.177994135C>T | CA362379003 | PROP1 | c.313G>A (p.Asp105Asn)
| |
5 | g.177994136C>A | CA447990712 | PROP1 | c.312G>T (p.Arg104=)
| |
5 | g.177994136C= | CA1603814527 | PROP1 | c.312G= (p.Arg104=)
| |
5 | g.177994136C>G | CA3587560 | PROP1 | c.312G>C (p.Arg104=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994136C>T | CA447990709 | PROP1 | c.312G>A (p.Arg104=)
| gnomAD v4 |
5 | g.177994137C>A | CA362379005 | PROP1 | c.311G>T (p.Arg104Leu)
| |
5 | g.177994137C= | CA1603814528 | PROP1 | c.311G= (p.Arg104=)
| |
5 | g.177994137C>G | CA362379004 | PROP1 | c.311G>C (p.Arg104Pro)
| |
5 | g.177994137C>T | CA3587561 | PROP1 | c.311G>A (p.Arg104Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994137_177994138delinsCG | CA1603814529 | PROP1 | c.310_311delinsCG (p.Arg104=)
| |
5 | g.177994138G>A | CA3587562 | PROP1 | c.310C>T (p.Arg104Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994138G>C | CA362379006 | PROP1 | c.310C>G (p.Arg104Gly)
| |
5 | g.177994138G= | CA1603814530 | PROP1 | c.310C= (p.Arg104=)
| |
5 | g.177994138G>T | CA447990720 | PROP1 | c.310C>A (p.Arg104=)
| ClinVar |
5 | g.177994140del | CA346835 | PROP1 | c.310del (p.Arg104GlyfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.177994139G>A | CA447990726 | PROP1 | c.309C>T (p.Ala103=)
| ClinVar gnomAD v4 |
5 | g.177994139G>C | CA447990728 | PROP1 | c.309C>G (p.Ala103=)
| |
5 | g.177994139G>T | CA447990730 | PROP1 | c.309C>A (p.Ala103=)
| |
5 | g.177994140G>A | CA362379007 | PROP1 | c.308C>T (p.Ala103Val)
| gnomAD v4 |
5 | g.177994140G>C | CA362379008 | PROP1 | c.308C>G (p.Ala103Gly)
| |
5 | g.177994140G>T | CA362379009 | PROP1 | c.308C>A (p.Ala103Asp)
| |
5 | g.177994141C>A | CA362379010 | PROP1 | c.307G>T (p.Ala103Ser)
| |
5 | g.177994141C>G | CA362379011 | PROP1 | c.307G>C (p.Ala103Pro)
| |
5 | g.177994141C>T | CA362379012 | PROP1 | c.307G>A (p.Ala103Thr)
| |
5 | g.177994142A= | CA1603814531 | PROP1 | c.306T= (p.Leu102=)
| |
5 | g.177994142A>C | CA3587563 | PROP1 | c.306T>G (p.Leu102=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177994142A>G | CA447990743 | PROP1 | c.306T>C (p.Leu102=)
| ClinVar |
5 | g.177994142A>T | CA447990745 | PROP1 | c.306T>A (p.Leu102=)
| |
5 | g.177994143A>C | CA362379013 | PROP1 | c.305T>G (p.Leu102Arg)
| |
5 | g.177994143A>G | CA362379014 | PROP1 | c.305T>C (p.Leu102Pro)
| COSMIC |
5 | g.177994143A>T | CA362379015 | PROP1 | c.305T>A (p.Leu102His)
| |
5 | g.177994144G>A | CA362379017 | PROP1 | c.304C>T (p.Leu102Phe)
| |
5 | g.177994144G>C | CA362379018 | PROP1 | c.304C>G (p.Leu102Val)
| |
5 | g.177994144G>T | CA362379016 | PROP1 | c.304C>A (p.Leu102Ile)
| |
5 | g.177994145A= | CA1603814532 | PROP1 | c.303T= (p.Ser101=)
| |
5 | g.177994145A>C | CA362379019 | PROP1 | c.303T>G (p.Ser101Arg)
| |
5 | g.177994145A>G | CA3587564 | PROP1 | c.303T>C (p.Ser101=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994145A>T | CA362379020 | PROP1 | c.303T>A (p.Ser101Arg)
| |
5 | g.177994145_177994147delinsACT | CA1603814533 | PROP1 | c.301_303delinsAGT (p.Ser101=)
| |
5 | g.177994146C>A | CA362379021 | PROP1 | c.302G>T (p.Ser101Ile)
| ClinVar dbSNP gnomAD v4 |
5 | g.177994146C>G | CA362379022 | PROP1 | c.302G>C (p.Ser101Thr)
| |
5 | g.177994146C>T | CA362379023 | PROP1 | c.302G>A (p.Ser101Asn)
| |
5 | g.177994151_177994152del | CA214191 | PROP1 | c.301_302del (p.Leu102CysfsTer8)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177994147T>A | CA362379024 | PROP1 | c.301A>T (p.Ser101Cys)
| |
5 | g.177994147T>C | CA362379025 | PROP1 | c.301A>G (p.Ser101Gly)
| |
5 | g.177994147T>G | CA362379026 | PROP1 | c.301A>C (p.Ser101Arg)
| |
5 | g.177994148C>A | CA362379027 | PROP1 | c.300G>T (p.Glu100Asp)
| |
5 | g.177994148C>G | CA362379028 | PROP1 | c.300G>C (p.Glu100Asp)
| |
5 | g.177994148C>T | CA447990772 | PROP1 | c.300G>A (p.Glu100=)
| |
5 | g.177994149T>A | CA362379031 | PROP1 | c.299A>T (p.Glu100Val)
| |
5 | g.177994149T>C | CA362379030 | PROP1 | c.299A>G (p.Glu100Gly)
| |
5 | g.177994149T>G | CA362379029 | PROP1 | c.299A>C (p.Glu100Ala)
| |
5 | g.177994150C>A | CA362379032 | PROP1 | c.298G>T (p.Glu100Ter)
| |
5 | g.177994150C= | CA1603814534 | PROP1 | c.298G= (p.Glu100=)
| |
5 | g.177994150C>G | CA3587565 | PROP1 | c.298G>C (p.Glu100Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177994150C>T | CA362379033 | PROP1 | c.298G>A (p.Glu100Lys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.177994151T>A | CA447990785 | PROP1 | c.297A>T (p.Arg99=)
| |
5 | g.177994151T>C | CA447990782 | PROP1 | c.297A>G (p.Arg99=)
| |
5 | g.177994151T>G | CA447990783 | PROP1 | c.297A>C (p.Arg99=)
| |