Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.1857952_1857956dup | CA170588666 | ARHGEF10 | c.38-8_38-4dup (n.38-8_38-4dup) c.497-8_497-4dup c.628-8_628-4dup (n.628-8_628-4dup) c.428-8_428-4dup c.110-8_110-4dup (n.110-8_110-4dup) c.-8-8_-8-4dup (n.-8-8_-8-4dup) c.122-8_122-4dup (n.122-8_122-4dup) | dbSNP |
8 | g.1857952_1857956del | CA4599554 | ARHGEF10 | c.38-8_38-4del (n.38-8_38-4del) c.497-8_497-4del c.628-8_628-4del (n.628-8_628-4del) c.428-8_428-4del c.110-8_110-4del (n.110-8_110-4del) c.-8-8_-8-4del (n.-8-8_-8-4del) c.122-8_122-4del (n.122-8_122-4del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1857952_1857955delinsCTTT | CA1757725630 | ARHGEF10 | c.38-8_38-5delinsCTTT (n.38-8_38-5delinsCTTT) c.497-8_497-5delinsCTTT c.628-8_628-5delinsCTTT (n.628-8_628-5delinsCTTT) c.428-8_428-5delinsCTTT c.110-8_110-5delinsCTTT (n.110-8_110-5delinsCTTT) c.-8-8_-8-5delinsCTTT (n.-8-8_-8-5delinsCTTT) c.122-8_122-5delinsCTTT (n.122-8_122-5delinsCTTT) | |
8 | g.1857955_1857957del | CA579305141 | ARHGEF10 | c.38-5_38-3del (n.38-5_38-3del) c.497-5_497-3del c.628-5_628-3del (n.628-5_628-3del) c.428-5_428-3del c.110-5_110-3del (n.110-5_110-3del) c.-8-5_-8-3del (n.-8-5_-8-3del) c.122-5_122-3del (n.122-5_122-3del) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1857955T>C | CA170588667 | ARHGEF10 | c.38-5T>C (n.38-5T>C) c.497-5T>C c.628-5T>C (n.628-5T>C) c.428-5T>C c.110-5T>C (n.110-5T>C) c.-8-5T>C (n.-8-5T>C) c.122-5T>C (n.122-5T>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1857955T= | CA1757725633 | ARHGEF10 | c.38-5T= (n.38-5T=) c.497-5T= c.628-5T= (n.628-5T=) c.428-5T= c.110-5T= (n.110-5T=) c.-8-5T= (n.-8-5T=) c.122-5T= (n.122-5T=) | |
8 | g.1857956T>A | CA1757725637 | ARHGEF10 | c.38-4T>A (n.38-4T>A) c.497-4T>A c.628-4T>A (n.628-4T>A) c.428-4T>A c.110-4T>A (n.110-4T>A) c.-8-4T>A (n.-8-4T>A) c.122-4T>A (n.122-4T>A) | dbSNP gnomAD v4 |
8 | g.1857956T= | CA1757725636 | ARHGEF10 | c.38-4T= (n.38-4T=) c.497-4T= c.628-4T= (n.628-4T=) c.428-4T= c.110-4T= (n.110-4T=) c.-8-4T= (n.-8-4T=) c.122-4T= (n.122-4T=) | |
8 | g.1857957T>A | CA645557471 | ARHGEF10 | c.38-3T>A (n.38-3T>A) c.497-3T>A c.628-3T>A (n.628-3T>A) c.428-3T>A c.110-3T>A (n.110-3T>A) c.-8-3T>A (n.-8-3T>A) c.122-3T>A (n.122-3T>A) | COSMIC COSMIC |
8 | g.1857957T>C | CA2685945708 | ARHGEF10 | c.38-3T>C (n.38-3T>C) c.497-3T>C c.628-3T>C (n.628-3T>C) c.428-3T>C c.110-3T>C (n.110-3T>C) c.-8-3T>C (n.-8-3T>C) c.122-3T>C (n.122-3T>C) | gnomAD v4 |
8 | g.1857958A= | CA1757725641 | ARHGEF10 | c.38-2A= (n.38-2A=) c.497-2A= c.628-2A= (n.628-2A=) c.428-2A= c.110-2A= (n.110-2A=) c.-8-2A= (n.-8-2A=) c.122-2A= (n.122-2A=) | |
8 | g.1857958A>C | CA4599565 | ARHGEF10 | c.38-2A>C (n.38-2A>C) c.497-2A>C c.628-2A>C (n.628-2A>C) c.428-2A>C c.110-2A>C (n.110-2A>C) c.-8-2A>C (n.-8-2A>C) c.122-2A>C (n.122-2A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1857958A>G | CA369954730 | ARHGEF10 | c.38-2A>G (n.38-2A>G) c.497-2A>G c.628-2A>G (n.628-2A>G) c.428-2A>G c.110-2A>G (n.110-2A>G) c.-8-2A>G (n.-8-2A>G) c.122-2A>G (n.122-2A>G) | |
8 | g.1857958A>T | CA4599564 | ARHGEF10 | c.38-2A>T (n.38-2A>T) c.497-2A>T c.628-2A>T (n.628-2A>T) c.428-2A>T c.110-2A>T (n.110-2A>T) c.-8-2A>T (n.-8-2A>T) c.122-2A>T (n.122-2A>T) | dbSNP ExAC |
8 | g.1857959G>A | CA369954731 | ARHGEF10 | c.38-1G>A (n.38-1G>A) c.497-1G>A c.628-1G>A (n.628-1G>A) c.428-1G>A c.110-1G>A (n.110-1G>A) c.-8-1G>A (n.-8-1G>A) c.122-1G>A (n.122-1G>A) | dbSNP |
8 | g.1857959G>C | CA369954732 | ARHGEF10 | c.38-1G>C (n.38-1G>C) c.497-1G>C c.628-1G>C (n.628-1G>C) c.428-1G>C c.110-1G>C (n.110-1G>C) c.-8-1G>C (n.-8-1G>C) c.122-1G>C (n.122-1G>C) | |
8 | g.1857959G= | CA1757725645 | ARHGEF10 | c.38-1G= (n.38-1G=) c.497-1G= c.628-1G= (n.628-1G=) c.428-1G= c.110-1G= (n.110-1G=) c.-8-1G= (n.-8-1G=) c.122-1G= (n.122-1G=) | |
8 | g.1857959G>T | CA369954733 | ARHGEF10 | c.38-1G>T (n.38-1G>T) c.497-1G>T c.628-1G>T (n.628-1G>T) c.428-1G>T c.110-1G>T (n.110-1G>T) c.-8-1G>T (n.-8-1G>T) c.122-1G>T (n.122-1G>T) | |
8 | g.1857960A= | CA1757725649 | ARHGEF10 | c.38A= (p.Glu13=) c.497A= c.628A= (p.Lys210=) c.428A= c.110A= (p.Glu37=) c.-8A= (n.-8A=) c.122A= (p.Glu41=) | |
8 | g.1857960A>C | CA369954736 | ARHGEF10 | c.38A>C (p.Glu13Ala) c.497A>C c.628A>C (p.Lys210Gln) c.428A>C c.110A>C (p.Glu37Ala) c.-8A>C (n.-8A>C) c.122A>C (p.Glu41Ala) | |
8 | g.1857960A>G | CA369954734 | ARHGEF10 | c.38A>G (p.Glu13Gly) c.497A>G c.628A>G (p.Lys210Glu) c.428A>G c.110A>G (p.Glu37Gly) c.-8A>G (n.-8A>G) c.122A>G (p.Glu41Gly) | dbSNP |
8 | g.1857960A>T | CA369954735 | ARHGEF10 | c.38A>T (p.Glu13Val) c.497A>T c.628A>T (p.Lys210Ter) c.428A>T c.110A>T (p.Glu37Val) c.-8A>T (n.-8A>T) c.122A>T (p.Glu41Val) | |
8 | g.1857961A>C | CA369954737 | ARHGEF10 | c.39A>C (p.Glu13Asp) c.498A>C c.629A>C (p.Lys210Thr) c.429A>C c.111A>C (p.Glu37Asp) c.-7A>C (n.-7A>C) c.123A>C (p.Glu41Asp) | |
8 | g.1857961A>G | CA459053635 | ARHGEF10 | c.39A>G (p.Glu13=) c.498A>G c.629A>G (p.Lys210Arg) c.429A>G c.111A>G (p.Glu37=) c.-7A>G (n.-7A>G) c.123A>G (p.Glu41=) | |
8 | g.1857961A>T | CA369954738 | ARHGEF10 | c.39A>T (p.Glu13Asp) c.498A>T c.629A>T (p.Lys210Ile) c.429A>T c.111A>T (p.Glu37Asp) c.-7A>T (n.-7A>T) c.123A>T (p.Glu41Asp) | |
8 | g.1857970_1857974del | CA2685945709 | ARHGEF10 | c.48_52del (p.Met16IlefsTer2) c.507_511del c.638_*3del (n.[c.638_*3del;Ter213TyrextTer?]) c.438_442del c.120_124del (p.Met40IlefsTer2) c.3_7del (p.Met1IlefsTer2) c.132_136del (p.Met44IlefsTer2) | gnomAD v4 |
8 | g.1857962A>C | CA369954739 | ARHGEF10 | c.40A>C (p.Asn14His) c.499A>C c.630A>C (p.Lys210Asn) c.430A>C c.112A>C (p.Asn38His) c.-6A>C (n.-6A>C) c.124A>C (p.Asn42His) | |
8 | g.1857962A>G | CA369954740 | ARHGEF10 | c.40A>G (p.Asn14Asp) c.499A>G c.630A>G (p.Lys210=) c.430A>G c.112A>G (p.Asn38Asp) c.-6A>G (n.-6A>G) c.124A>G (p.Asn42Asp) | |
8 | g.1857962A>T | CA369954741 | ARHGEF10 | c.40A>T (p.Asn14Tyr) c.499A>T c.630A>T (p.Lys210Asn) c.430A>T c.112A>T (p.Asn38Tyr) c.-6A>T (n.-6A>T) c.124A>T (p.Asn42Tyr) | |
8 | g.1857963A= | CA1757725651 | ARHGEF10 | c.41A= (p.Asn14=) c.500A= c.631A= (p.Met211=) c.431A= c.113A= (p.Asn38=) c.-5A= (n.-5A=) c.125A= (p.Asn42=) | |
8 | g.1857963A>C | CA369954742 | ARHGEF10 | c.41A>C (p.Asn14Thr) c.500A>C c.631A>C (p.Met211Leu) c.431A>C c.113A>C (p.Asn38Thr) c.-5A>C (n.-5A>C) c.125A>C (p.Asn42Thr) | |
8 | g.1857963A>G | CA369954743 | ARHGEF10 | c.41A>G (p.Asn14Ser) c.500A>G c.631A>G (p.Met211Val) c.431A>G c.113A>G (p.Asn38Ser) c.-5A>G (n.-5A>G) c.125A>G (p.Asn42Ser) | |
8 | g.1857963A>T | CA369954744 | ARHGEF10 | c.41A>T (p.Asn14Ile) c.500A>T c.631A>T (p.Met211Leu) c.431A>T c.113A>T (p.Asn38Ile) c.-5A>T (n.-5A>T) c.125A>T (p.Asn42Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1857964T>A | CA369954745 | ARHGEF10 | c.42T>A (p.Asn14Lys) c.501T>A c.632T>A (p.Met211Lys) c.432T>A c.114T>A (p.Asn38Lys) c.-4T>A (n.-4T>A) c.126T>A (p.Asn42Lys) | |
8 | g.1857964T>C | CA4599566 | ARHGEF10 | c.42T>C (p.Asn14=) c.501T>C c.632T>C (p.Met211Thr) c.432T>C c.114T>C (p.Asn38=) c.-4T>C (n.-4T>C) c.126T>C (p.Asn42=) | dbSNP ExAC gnomAD v2 |
8 | g.1857964T>G | CA369954746 | ARHGEF10 | c.42T>G (p.Asn14Lys) c.501T>G c.632T>G (p.Met211Arg) c.432T>G c.114T>G (p.Asn38Lys) c.-4T>G (n.-4T>G) c.126T>G (p.Asn42Lys) | |
8 | g.1857964T= | CA1757725653 | ARHGEF10 | c.42T= (p.Asn14=) c.501T= c.632T= (p.Met211=) c.432T= c.114T= (p.Asn38=) c.-4T= (n.-4T=) c.126T= (p.Asn42=) | |
8 | g.1857965G>A | CA369954749 | ARHGEF10 | c.43G>A (p.Glu15Lys) c.502G>A c.633G>A (p.Met211Ile) c.433G>A c.115G>A (p.Glu39Lys) c.-3G>A (n.-3G>A) c.127G>A (p.Glu43Lys) | |
8 | g.1857965G>C | CA369954748 | ARHGEF10 | c.43G>C (p.Glu15Gln) c.502G>C c.633G>C (p.Met211Ile) c.433G>C c.115G>C (p.Glu39Gln) c.-3G>C (n.-3G>C) c.127G>C (p.Glu43Gln) | |
8 | g.1857965G>T | CA369954747 | ARHGEF10 | c.43G>T (p.Glu15Ter) c.502G>T c.633G>T (p.Met211Ile) c.433G>T c.115G>T (p.Glu39Ter) c.-3G>T (n.-3G>T) c.127G>T (p.Glu43Ter) | |
8 | g.1857966A= | CA1757725654 | ARHGEF10 | c.44A= (p.Glu15=) c.503A= c.634A= (p.Lys212=) c.434A= c.116A= (p.Glu39=) c.-2A= (n.-2A=) c.128A= (p.Glu43=) | |
8 | g.1857966A>C | CA369954750 | ARHGEF10 | c.44A>C (p.Glu15Ala) c.503A>C c.634A>C (p.Lys212Gln) c.434A>C c.116A>C (p.Glu39Ala) c.-2A>C (n.-2A>C) c.128A>C (p.Glu43Ala) | |
8 | g.1857966A>G | CA369954751 | ARHGEF10 | c.44A>G (p.Glu15Gly) c.503A>G c.634A>G (p.Lys212Glu) c.434A>G c.116A>G (p.Glu39Gly) c.-2A>G (n.-2A>G) c.128A>G (p.Glu43Gly) | dbSNP gnomAD v4 |
8 | g.1857966A>T | CA369954752 | ARHGEF10 | c.44A>T (p.Glu15Val) c.503A>T c.634A>T (p.Lys212Ter) c.434A>T c.116A>T (p.Glu39Val) c.-2A>T (n.-2A>T) c.128A>T (p.Glu43Val) | |
8 | g.1857967A= | CA1757725656 | ARHGEF10 | c.45A= (p.Glu15=) c.504A= c.635A= (p.Lys212=) c.435A= c.117A= (p.Glu39=) c.-1A= (n.-1A=) c.129A= (p.Glu43=) | |
8 | g.1857967A>C | CA4599567 | ARHGEF10 | c.45A>C (p.Glu15Asp) c.504A>C c.635A>C (p.Lys212Thr) c.435A>C c.117A>C (p.Glu39Asp) c.-1A>C (n.-1A>C) c.129A>C (p.Glu43Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.1857967A>G | CA459053660 | ARHGEF10 | c.45A>G (p.Glu15=) c.504A>G c.635A>G (p.Lys212Arg) c.435A>G c.117A>G (p.Glu39=) c.-1A>G (n.-1A>G) c.129A>G (p.Glu43=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1857967A>T | CA369954753 | ARHGEF10 | c.45A>T (p.Glu15Asp) c.504A>T c.635A>T (p.Lys212Ile) c.435A>T c.117A>T (p.Glu39Asp) c.-1A>T (n.-1A>T) c.129A>T (p.Glu43Asp) | |
8 | g.1857968A>C | CA369954756 | ARHGEF10 | c.46A>C (p.Met16Leu) c.505A>C c.636A>C (p.Lys212Asn) c.436A>C c.118A>C (p.Met40Leu) c.1A>C (p.Met1Leu) c.130A>C (p.Met44Leu) | |
8 | g.1857968A>G | CA369954755 | ARHGEF10 | c.46A>G (p.Met16Val) c.505A>G c.636A>G (p.Lys212=) c.436A>G c.118A>G (p.Met40Val) c.1A>G (p.Met1Val) c.130A>G (p.Met44Val) |