Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.67184175_67184176delinsAT | CA1552876160 | CD180 | c.667_668delinsAT (p.Ile223=) c.628_629delinsAT (p.Ile210=) | |
5 | g.67184176del | CA917495393 | CD180 | c.667del (p.Ile223SerfsTer5) c.628del (p.Ile210SerfsTer5) | dbSNP |
5 | g.67184176T>A | CA359908660 | CD180 | c.667A>T (p.Ile223Phe) c.628A>T (p.Ile210Phe) | dbSNP gnomAD v4 |
5 | g.67184176T>C | CA3289731 | CD180 | c.667A>G (p.Ile223Val) c.628A>G (p.Ile210Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.67184176T>G | CA359908661 | CD180 | c.667A>C (p.Ile223Leu) c.628A>C (p.Ile210Leu) | dbSNP |
5 | g.67184176T= | CA1552876164 | CD180 | c.667A= (p.Ile223=) c.628A= (p.Ile210=) | |
5 | g.67184176_67184177delinsTC | CA1552876166 | CD180 | c.666_667delinsGA (p.Thr222=) c.627_628delinsGA (p.Thr209=) | |
5 | g.67184176_67184177insTGAATCAAAAGCCCCAAGCAGAAGAC | CA1077050525 | CD180 | c.666_667insGTCTTCTGCTTGGGGCTTTTGATTCA (p.Ile223ValfsTer14) c.627_628insGTCTTCTGCTTGGGGCTTTTGATTCA (p.Ile210ValfsTer14) | gnomAD v3 gnomAD v4 |
5 | g.67184177del | CA917495398 | CD180 | c.666del (p.Ile223SerfsTer5) c.627del (p.Ile210SerfsTer5) | dbSNP |
5 | g.67184177C>A | CA3289732 | CD180 | c.666G>T (p.Thr222=) c.627G>T (p.Thr209=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.67184177C= | CA1552876178 | CD180 | c.666G= (p.Thr222=) c.627G= (p.Thr209=) | |
5 | g.67184177C>G | CA3289734 | CD180 | c.666G>C (p.Thr222=) c.627G>C (p.Thr209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.67184177C>T | CA3289733 | CD180 | c.666G>A (p.Thr222=) c.627G>A (p.Thr209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.67184178G>A | CA3289735 | CD180 | c.665C>T (p.Thr222Met) c.626C>T (p.Thr209Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.67184178G>C | CA359908662 | CD180 | c.665C>G (p.Thr222Arg) c.626C>G (p.Thr209Arg) | |
5 | g.67184178G= | CA1552876183 | CD180 | c.665C= (p.Thr222=) c.626C= (p.Thr209=) | |
5 | g.67184178G>T | CA359908663 | CD180 | c.665C>A (p.Thr222Lys) c.626C>A (p.Thr209Lys) | |
5 | g.67184179T>A | CA359908666 | CD180 | c.664A>T (p.Thr222Ser) c.625A>T (p.Thr209Ser) | |
5 | g.67184179T>C | CA359908665 | CD180 | c.664A>G (p.Thr222Ala) c.625A>G (p.Thr209Ala) | |
5 | g.67184179T>G | CA359908664 | CD180 | c.664A>C (p.Thr222Pro) c.625A>C (p.Thr209Pro) | |
5 | g.67184180del | CA2674078301 | CD180 | c.664del (p.Thr222ArgfsTer6) c.625del (p.Thr209ArgfsTer6) | gnomAD v4 |
5 | g.67184180T>A | CA444672473 | CD180 | c.663A>T (p.Ser221=) c.624A>T (p.Ser208=) | |
5 | g.67184180T>C | CA444672474 | CD180 | c.663A>G (p.Ser221=) c.624A>G (p.Ser208=) | |
5 | g.67184180T>G | CA444672475 | CD180 | c.663A>C (p.Ser221=) c.624A>C (p.Ser208=) | |
5 | g.67184181G>A | CA359908667 | CD180 | c.662C>T (p.Ser221Leu) c.623C>T (p.Ser208Leu) | |
5 | g.67184181G>C | CA359908668 | CD180 | c.662C>G (p.Ser221Ter) c.623C>G (p.Ser208Ter) | |
5 | g.67184181G= | CA1552876185 | CD180 | c.662C= (p.Ser221=) c.623C= (p.Ser208=) | |
5 | g.67184181G>T | CA359908669 | CD180 | c.662C>A (p.Ser221Ter) c.623C>A (p.Ser208Ter) | dbSNP |
5 | g.67184182A>C | CA359908671 | CD180 | c.661T>G (p.Ser221Ala) c.622T>G (p.Ser208Ala) | |
5 | g.67184182A>G | CA359908673 | CD180 | c.661T>C (p.Ser221Pro) c.622T>C (p.Ser208Pro) | |
5 | g.67184182A>T | CA359908674 | CD180 | c.661T>A (p.Ser221Thr) c.622T>A (p.Ser208Thr) | |
5 | g.67184183A>C | CA359908676 | CD180 | c.660T>G (p.Asp220Glu) c.621T>G (p.Asp207Glu) | |
5 | g.67184183A>G | CA444672478 | CD180 | c.660T>C (p.Asp220=) c.621T>C (p.Asp207=) | |
5 | g.67184183A>T | CA359908677 | CD180 | c.660T>A (p.Asp220Glu) c.621T>A (p.Asp207Glu) | |
5 | g.67184184T>A | CA359908679 | CD180 | c.659A>T (p.Asp220Val) c.620A>T (p.Asp207Val) | |
5 | g.67184184T>C | CA359908680 | CD180 | c.659A>G (p.Asp220Gly) c.620A>G (p.Asp207Gly) | |
5 | g.67184184T>G | CA359908682 | CD180 | c.659A>C (p.Asp220Ala) c.620A>C (p.Asp207Ala) | |
5 | g.67184185C>A | CA359908684 | CD180 | c.658G>T (p.Asp220Tyr) c.619G>T (p.Asp207Tyr) | |
5 | g.67184185C>G | CA359908686 | CD180 | c.658G>C (p.Asp220His) c.619G>C (p.Asp207His) | |
5 | g.67184185C>T | CA359908688 | CD180 | c.658G>A (p.Asp220Asn) c.619G>A (p.Asp207Asn) | |
5 | g.67184186A>C | CA359908690 | CD180 | c.657T>G (p.Phe219Leu) c.618T>G (p.Phe206Leu) | |
5 | g.67184186A>G | CA444672479 | CD180 | c.657T>C (p.Phe219=) c.618T>C (p.Phe206=) | gnomAD v4 |
5 | g.67184186A>T | CA359908692 | CD180 | c.657T>A (p.Phe219Leu) c.618T>A (p.Phe206Leu) | |
5 | g.67184187A>C | CA359908694 | CD180 | c.656T>G (p.Phe219Cys) c.617T>G (p.Phe206Cys) | |
5 | g.67184187A>G | CA359908697 | CD180 | c.656T>C (p.Phe219Ser) c.617T>C (p.Phe206Ser) | |
5 | g.67184187A>T | CA359908695 | CD180 | c.656T>A (p.Phe219Tyr) c.617T>A (p.Phe206Tyr) | |
5 | g.67184188A>C | CA359908700 | CD180 | c.655T>G (p.Phe219Val) c.616T>G (p.Phe206Val) | |
5 | g.67184188A>G | CA359908701 | CD180 | c.655T>C (p.Phe219Leu) c.616T>C (p.Phe206Leu) | |
5 | g.67184188A>T | CA359908703 | CD180 | c.655T>A (p.Phe219Ile) c.616T>A (p.Phe206Ile) | |
5 | g.67184189A>C | CA444672481 | CD180 | c.654T>G (p.Ala218=) c.615T>G (p.Ala205=) | gnomAD v4 |