Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.89631563_89631584del | CA2630273775 | KIF7 | c.3145_3166del (p.Asp1049ThrfsTer14) c.3022_3043del (p.Asp1008ThrfsTer14) n.696_717del c.3142_3163del (p.Asp1048ThrfsTer14) | gnomAD v4 |
15 | g.89631573G>A | CA492292458 | KIF7 | c.3156C>T (p.Arg1052=) c.3033C>T (p.Arg1011=) n.707C>T c.3153C>T (p.Arg1051=) | |
15 | g.89631573G>C | CA492292459 | KIF7 | c.3156C>G (p.Arg1052=) c.3033C>G (p.Arg1011=) n.707C>G c.3153C>G (p.Arg1051=) | |
15 | g.89631573G>T | CA492292460 | KIF7 | c.3156C>A (p.Arg1052=) c.3033C>A (p.Arg1011=) n.707C>A c.3153C>A (p.Arg1051=) | |
15 | g.89631574C>A | CA393757022 | KIF7 | c.3155G>T (p.Arg1052Leu) c.3032G>T (p.Arg1011Leu) n.706G>T c.3152G>T (p.Arg1051Leu) | gnomAD v4 |
15 | g.89631574C= | CA2194759535 | KIF7 | c.3155G= (p.Arg1052=) c.3032G= (p.Arg1011=) n.706G= c.3152G= (p.Arg1051=) | |
15 | g.89631574C>G | CA393757023 | KIF7 | c.3155G>C (p.Arg1052Pro) c.3032G>C (p.Arg1011Pro) n.706G>C c.3152G>C (p.Arg1051Pro) | gnomAD v4 |
15 | g.89631574C>T | CA7727852 | KIF7 | c.3155G>A (p.Arg1052His) c.3032G>A (p.Arg1011His) n.706G>A c.3152G>A (p.Arg1051His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.89631575G>A | CA7727853 | KIF7 | c.3154C>T (p.Arg1052Cys) c.3031C>T (p.Arg1011Cys) n.705C>T c.3151C>T (p.Arg1051Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.89631575G>C | CA393757027 | KIF7 | c.3154C>G (p.Arg1052Gly) c.3031C>G (p.Arg1011Gly) n.705C>G c.3151C>G (p.Arg1051Gly) | gnomAD v4 |
15 | g.89631575G= | CA2194759538 | KIF7 | c.3154C= (p.Arg1052=) c.3031C= (p.Arg1011=) n.705C= c.3151C= (p.Arg1051=) | |
15 | g.89631575G>T | CA393757028 | KIF7 | c.3154C>A (p.Arg1052Ser) c.3031C>A (p.Arg1011Ser) n.705C>A c.3151C>A (p.Arg1051Ser) | dbSNP gnomAD v4 |
15 | g.89631576C>A | CA492292461 | KIF7 | c.3153G>T (p.Leu1051=) c.3030G>T (p.Leu1010=) n.704G>T c.3150G>T (p.Leu1050=) | gnomAD v4 |
15 | g.89631576C>G | CA492292462 | KIF7 | c.3153G>C (p.Leu1051=) c.3030G>C (p.Leu1010=) n.704G>C c.3150G>C (p.Leu1050=) | |
15 | g.89631576C>T | CA492292463 | KIF7 | c.3153G>A (p.Leu1051=) c.3030G>A (p.Leu1010=) n.704G>A c.3150G>A (p.Leu1050=) | gnomAD v4 |
15 | g.89631577A= | CA2194759542 | KIF7 | c.3152T= (p.Leu1051=) c.3029T= (p.Leu1010=) n.703T= c.3149T= (p.Leu1050=) | |
15 | g.89631577A>C | CA393757030 | KIF7 | c.3152T>G (p.Leu1051Arg) c.3029T>G (p.Leu1010Arg) n.703T>G c.3149T>G (p.Leu1050Arg) | |
15 | g.89631577A>G | CA393757034 | KIF7 | c.3152T>C (p.Leu1051Pro) c.3029T>C (p.Leu1010Pro) n.703T>C c.3149T>C (p.Leu1050Pro) | gnomAD v4 |
15 | g.89631577A>T | CA393757032 | KIF7 | c.3152T>A (p.Leu1051Gln) c.3029T>A (p.Leu1010Gln) n.703T>A c.3149T>A (p.Leu1050Gln) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631578G>A | CA492292464 | KIF7 | c.3151C>T (p.Leu1051=) c.3028C>T (p.Leu1010=) n.702C>T c.3148C>T (p.Leu1050=) | dbSNP gnomAD v4 |
15 | g.89631578G>C | CA393757036 | KIF7 | c.3151C>G (p.Leu1051Val) c.3028C>G (p.Leu1010Val) n.702C>G c.3148C>G (p.Leu1050Val) | |
15 | g.89631578G= | CA2194759546 | KIF7 | c.3151C= (p.Leu1051=) c.3028C= (p.Leu1010=) n.702C= c.3148C= (p.Leu1050=) | |
15 | g.89631578G>T | CA393757038 | KIF7 | c.3151C>A (p.Leu1051Met) c.3028C>A (p.Leu1010Met) n.702C>A c.3148C>A (p.Leu1050Met) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631579G>A | CA492292465 | KIF7 | c.3150C>T (p.Ser1050=) c.3027C>T (p.Ser1009=) n.701C>T c.3147C>T (p.Ser1049=) | gnomAD v4 |
15 | g.89631579G>C | CA393757040 | KIF7 | c.3150C>G (p.Ser1050Arg) c.3027C>G (p.Ser1009Arg) n.701C>G c.3147C>G (p.Ser1049Arg) | |
15 | g.89631579G>T | CA393757041 | KIF7 | c.3150C>A (p.Ser1050Arg) c.3027C>A (p.Ser1009Arg) n.701C>A c.3147C>A (p.Ser1049Arg) | gnomAD v4 |
15 | g.89631580C>A | CA274566451 | KIF7 | c.3149G>T (p.Ser1050Ile) c.3026G>T (p.Ser1009Ile) n.700G>T c.3146G>T (p.Ser1049Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631580C= | CA2194759549 | KIF7 | c.3149G= (p.Ser1050=) c.3026G= (p.Ser1009=) n.700G= c.3146G= (p.Ser1049=) | |
15 | g.89631580C>G | CA7727854 | KIF7 | c.3149G>C (p.Ser1050Thr) c.3026G>C (p.Ser1009Thr) n.700G>C c.3146G>C (p.Ser1049Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631580C>T | CA393757045 | KIF7 | c.3149G>A (p.Ser1050Asn) c.3026G>A (p.Ser1009Asn) n.700G>A c.3146G>A (p.Ser1049Asn) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631581T>A | CA393757048 | KIF7 | c.3148A>T (p.Ser1050Cys) c.3025A>T (p.Ser1009Cys) n.699A>T c.3145A>T (p.Ser1049Cys) | |
15 | g.89631581T>C | CA393757049 | KIF7 | c.3148A>G (p.Ser1050Gly) c.3025A>G (p.Ser1009Gly) n.699A>G c.3145A>G (p.Ser1049Gly) | gnomAD v4 |
15 | g.89631581T>G | CA393757050 | KIF7 | c.3148A>C (p.Ser1050Arg) c.3025A>C (p.Ser1009Arg) n.699A>C c.3145A>C (p.Ser1049Arg) | |
15 | g.89631582G>A | CA7727855 | KIF7 | c.3147C>T (p.Asp1049=) c.3024C>T (p.Asp1008=) n.698C>T c.3144C>T (p.Asp1048=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631582G>C | CA393757054 | KIF7 | c.3147C>G (p.Asp1049Glu) c.3024C>G (p.Asp1008Glu) n.698C>G c.3144C>G (p.Asp1048Glu) | |
15 | g.89631582G= | CA2194759554 | KIF7 | c.3147C= (p.Asp1049=) c.3024C= (p.Asp1008=) n.698C= c.3144C= (p.Asp1048=) | |
15 | g.89631582G>T | CA393757052 | KIF7 | c.3147C>A (p.Asp1049Glu) c.3024C>A (p.Asp1008Glu) n.698C>A c.3144C>A (p.Asp1048Glu) | gnomAD v4 |
15 | g.89631583T>A | CA393757057 | KIF7 | c.3146A>T (p.Asp1049Val) c.3023A>T (p.Asp1008Val) n.697A>T c.3143A>T (p.Asp1048Val) | gnomAD v4 |
15 | g.89631583T>C | CA7727856 | KIF7 | c.3146A>G (p.Asp1049Gly) c.3023A>G (p.Asp1008Gly) n.697A>G c.3143A>G (p.Asp1048Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631583T>G | CA393757059 | KIF7 | c.3146A>C (p.Asp1049Ala) c.3023A>C (p.Asp1008Ala) n.697A>C c.3143A>C (p.Asp1048Ala) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631583T= | CA2194759557 | KIF7 | c.3146A= (p.Asp1049=) c.3023A= (p.Asp1008=) n.697A= c.3143A= (p.Asp1048=) | |
15 | g.89631584C>A | CA393757063 | KIF7 | c.3145G>T (p.Asp1049Tyr) c.3022G>T (p.Asp1008Tyr) n.696G>T c.3142G>T (p.Asp1048Tyr) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631584C= | CA2194759562 | KIF7 | c.3145G= (p.Asp1049=) c.3022G= (p.Asp1008=) n.696G= c.3142G= (p.Asp1048=) | |
15 | g.89631584C>G | CA7727857 | KIF7 | c.3145G>C (p.Asp1049His) c.3022G>C (p.Asp1008His) n.696G>C c.3142G>C (p.Asp1048His) | dbSNP ExAC gnomAD v4 |
15 | g.89631584C>T | CA7727858 | KIF7 | c.3145G>A (p.Asp1049Asn) c.3022G>A (p.Asp1008Asn) n.696G>A c.3142G>A (p.Asp1048Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89631585G>A | CA020335 | KIF7 | c.3144C>T (p.Ile1048=) c.3021C>T (p.Ile1007=) n.695C>T c.3141C>T (p.Ile1047=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631585G>C | CA393757069 | KIF7 | c.3144C>G (p.Ile1048Met) c.3021C>G (p.Ile1007Met) n.695C>G c.3141C>G (p.Ile1047Met) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631585G= | CA2194759573 | KIF7 | c.3144C= (p.Ile1048=) c.3021C= (p.Ile1007=) n.695C= c.3141C= (p.Ile1047=) | |
15 | g.89631585G>T | CA492292466 | KIF7 | c.3144C>A (p.Ile1048=) c.3021C>A (p.Ile1007=) n.695C>A c.3141C>A (p.Ile1047=) | gnomAD v4 |
15 | g.89631586A>C | CA393757072 | KIF7 | c.3143T>G (p.Ile1048Ser) c.3020T>G (p.Ile1007Ser) n.694T>G c.3140T>G (p.Ile1047Ser) | |
15 | g.89631586A>G | CA393757073 | KIF7 | c.3143T>C (p.Ile1048Thr) c.3020T>C (p.Ile1007Thr) n.694T>C c.3140T>C (p.Ile1047Thr) | |
15 | g.89631586A>T | CA393757075 | KIF7 | c.3143T>A (p.Ile1048Asn) c.3020T>A (p.Ile1007Asn) n.694T>A c.3140T>A (p.Ile1047Asn) | |
15 | g.89631587T>A | CA393757078 | KIF7 | c.3142A>T (p.Ile1048Phe) c.3019A>T (p.Ile1007Phe) n.693A>T c.3139A>T (p.Ile1047Phe) | |
15 | g.89631587T>C | CA393757080 | KIF7 | c.3142A>G (p.Ile1048Val) c.3019A>G (p.Ile1007Val) n.693A>G c.3139A>G (p.Ile1047Val) | |
15 | g.89631587T>G | CA393757082 | KIF7 | c.3142A>C (p.Ile1048Leu) c.3019A>C (p.Ile1007Leu) n.693A>C c.3139A>C (p.Ile1047Leu) | |
15 | g.89631588C>A | CA7727859 | KIF7 | c.3141G>T (p.Glu1047Asp) c.3018G>T (p.Glu1006Asp) n.692G>T c.3138G>T (p.Glu1046Asp) | dbSNP ExAC gnomAD v4 |
15 | g.89631588C= | CA2194759576 | KIF7 | c.3141G= (p.Glu1047=) c.3018G= (p.Glu1006=) n.692G= c.3138G= (p.Glu1046=) | |
15 | g.89631588C>G | CA393757084 | KIF7 | c.3141G>C (p.Glu1047Asp) c.3018G>C (p.Glu1006Asp) n.692G>C c.3138G>C (p.Glu1046Asp) | |
15 | g.89631588C>T | CA492292467 | KIF7 | c.3141G>A (p.Glu1047=) c.3018G>A (p.Glu1006=) n.692G>A c.3138G>A (p.Glu1046=) | |
15 | g.89631589T>A | CA393757086 | KIF7 | c.3140A>T (p.Glu1047Val) c.3017A>T (p.Glu1006Val) n.691A>T c.3137A>T (p.Glu1046Val) | |
15 | g.89631589T>C | CA393757089 | KIF7 | c.3140A>G (p.Glu1047Gly) c.3017A>G (p.Glu1006Gly) n.691A>G c.3137A>G (p.Glu1046Gly) | |
15 | g.89631589T>G | CA393757087 | KIF7 | c.3140A>C (p.Glu1047Ala) c.3017A>C (p.Glu1006Ala) n.691A>C c.3137A>C (p.Glu1046Ala) | |
15 | g.89631590C>A | CA393757092 | KIF7 | c.3139G>T (p.Glu1047Ter) c.3016G>T (p.Glu1006Ter) n.690G>T c.3136G>T (p.Glu1046Ter) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631590C= | CA2194759581 | KIF7 | c.3139G= (p.Glu1047=) c.3016G= (p.Glu1006=) n.690G= c.3136G= (p.Glu1046=) | |
15 | g.89631590C>G | CA393757093 | KIF7 | c.3139G>C (p.Glu1047Gln) c.3016G>C (p.Glu1006Gln) n.690G>C c.3136G>C (p.Glu1046Gln) | |
15 | g.89631590C>T | CA393757096 | KIF7 | c.3139G>A (p.Glu1047Lys) c.3016G>A (p.Glu1006Lys) n.690G>A c.3136G>A (p.Glu1046Lys) | |
15 | g.89631593del | CA1139664146 | KIF7 | c.3139del (p.Glu1047ArgfsTer23) c.3016del (p.Glu1006ArgfsTer23) n.690del c.3136del (p.Glu1046ArgfsTer23) | ClinVar |
15 | g.89631591C>A | CA492292468 | KIF7 | c.3138G>T (p.Gly1046=) c.3015G>T (p.Gly1005=) n.689G>T c.3135G>T (p.Gly1045=) | |
15 | g.89631591C>G | CA492292469 | KIF7 | c.3138G>C (p.Gly1046=) c.3015G>C (p.Gly1005=) n.689G>C c.3135G>C (p.Gly1045=) | |
15 | g.89631591C>T | CA492292470 | KIF7 | c.3138G>A (p.Gly1046=) c.3015G>A (p.Gly1005=) n.689G>A c.3135G>A (p.Gly1045=) | gnomAD v4 |
15 | g.89631592C>A | CA393757098 | KIF7 | c.3137G>T (p.Gly1046Val) c.3014G>T (p.Gly1005Val) n.688G>T c.3134G>T (p.Gly1045Val) | gnomAD v4 |
15 | g.89631592C>G | CA393757100 | KIF7 | c.3137G>C (p.Gly1046Ala) c.3014G>C (p.Gly1005Ala) n.688G>C c.3134G>C (p.Gly1045Ala) | gnomAD v4 |
15 | g.89631592C>T | CA393757102 | KIF7 | c.3137G>A (p.Gly1046Glu) c.3014G>A (p.Gly1005Glu) n.688G>A c.3134G>A (p.Gly1045Glu) | |
15 | g.89631593C>A | CA393757105 | KIF7 | c.3136G>T (p.Gly1046Trp) c.3013G>T (p.Gly1005Trp) n.687G>T c.3133G>T (p.Gly1045Trp) | dbSNP gnomAD v4 |
15 | g.89631593C= | CA2194759587 | KIF7 | c.3136G= (p.Gly1046=) c.3013G= (p.Gly1005=) n.687G= c.3133G= (p.Gly1045=) | |
15 | g.89631593C>G | CA393757107 | KIF7 | c.3136G>C (p.Gly1046Arg) c.3013G>C (p.Gly1005Arg) n.687G>C c.3133G>C (p.Gly1045Arg) | gnomAD v4 |
15 | g.89631593C>T | CA020329 | KIF7 | c.3136G>A (p.Gly1046Arg) c.3013G>A (p.Gly1005Arg) n.687G>A c.3133G>A (p.Gly1045Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631594G>A | CA020323 | KIF7 | c.3135C>T (p.Arg1045=) c.3012C>T (p.Arg1004=) n.686C>T c.3132C>T (p.Arg1044=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631594G>C | CA492292471 | KIF7 | c.3135C>G (p.Arg1045=) c.3012C>G (p.Arg1004=) n.686C>G c.3132C>G (p.Arg1044=) | |
15 | g.89631594G= | CA2194759600 | KIF7 | c.3135C= (p.Arg1045=) c.3012C= (p.Arg1004=) n.686C= c.3132C= (p.Arg1044=) | |
15 | g.89631594G>T | CA492292472 | KIF7 | c.3135C>A (p.Arg1045=) c.3012C>A (p.Arg1004=) n.686C>A c.3132C>A (p.Arg1044=) | gnomAD v4 |
15 | g.89631595C>A | CA393757113 | KIF7 | c.3134G>T (p.Arg1045Leu) c.3011G>T (p.Arg1004Leu) n.685G>T c.3131G>T (p.Arg1044Leu) | gnomAD v4 |
15 | g.89631595C= | CA2194759604 | KIF7 | c.3134G= (p.Arg1045=) c.3011G= (p.Arg1004=) n.685G= c.3131G= (p.Arg1044=) | |
15 | g.89631595C>G | CA393757111 | KIF7 | c.3134G>C (p.Arg1045Pro) c.3011G>C (p.Arg1004Pro) n.685G>C c.3131G>C (p.Arg1044Pro) | |
15 | g.89631595C>T | CA7727860 | KIF7 | c.3134G>A (p.Arg1045His) c.3011G>A (p.Arg1004His) n.685G>A c.3131G>A (p.Arg1044His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631596G>A | CA7727861 | KIF7 | c.3133C>T (p.Arg1045Cys) c.3010C>T (p.Arg1004Cys) n.684C>T c.3130C>T (p.Arg1044Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631596G>C | CA393757116 | KIF7 | c.3133C>G (p.Arg1045Gly) c.3010C>G (p.Arg1004Gly) n.684C>G c.3130C>G (p.Arg1044Gly) | |
15 | g.89631596G= | CA2194759609 | KIF7 | c.3133C= (p.Arg1045=) c.3010C= (p.Arg1004=) n.684C= c.3130C= (p.Arg1044=) | |
15 | g.89631596G>T | CA393757118 | KIF7 | c.3133C>A (p.Arg1045Ser) c.3010C>A (p.Arg1004Ser) n.684C>A c.3130C>A (p.Arg1044Ser) | gnomAD v4 |
15 | g.89631597G>A | CA492292474 | KIF7 | c.3132C>T (p.Ile1044=) c.3009C>T (p.Ile1003=) n.683C>T c.3129C>T (p.Ile1043=) | gnomAD v4 |
15 | g.89631597G>C | CA393757121 | KIF7 | c.3132C>G (p.Ile1044Met) c.3009C>G (p.Ile1003Met) n.683C>G c.3129C>G (p.Ile1043Met) | |
15 | g.89631597G>T | CA492292473 | KIF7 | c.3132C>A (p.Ile1044=) c.3009C>A (p.Ile1003=) n.683C>A c.3129C>A (p.Ile1043=) | gnomAD v4 |
15 | g.89631598A>C | CA393757123 | KIF7 | c.3131T>G (p.Ile1044Ser) c.3008T>G (p.Ile1003Ser) n.682T>G c.3128T>G (p.Ile1043Ser) | |
15 | g.89631598A>G | CA393757125 | KIF7 | c.3131T>C (p.Ile1044Thr) c.3008T>C (p.Ile1003Thr) n.682T>C c.3128T>C (p.Ile1043Thr) | |
15 | g.89631598A>T | CA393757126 | KIF7 | c.3131T>A (p.Ile1044Asn) c.3008T>A (p.Ile1003Asn) n.682T>A c.3128T>A (p.Ile1043Asn) | |
15 | g.89631599T>A | CA393757128 | KIF7 | c.3130A>T (p.Ile1044Phe) c.3007A>T (p.Ile1003Phe) n.681A>T c.3127A>T (p.Ile1043Phe) | |
15 | g.89631599T>C | CA393757129 | KIF7 | c.3130A>G (p.Ile1044Val) c.3007A>G (p.Ile1003Val) n.681A>G c.3127A>G (p.Ile1043Val) | gnomAD v4 |
15 | g.89631599T>G | CA393757130 | KIF7 | c.3130A>C (p.Ile1044Leu) c.3007A>C (p.Ile1003Leu) n.681A>C c.3127A>C (p.Ile1043Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631599T= | CA2194759612 | KIF7 | c.3130A= (p.Ile1044=) c.3007A= (p.Ile1003=) n.681A= c.3127A= (p.Ile1043=) | |
15 | g.89631600C>A | CA393757132 | KIF7 | c.3129G>T (p.Gln1043His) c.3006G>T (p.Gln1002His) n.680G>T c.3126G>T (p.Gln1042His) | gnomAD v4 |
15 | g.89631600C= | CA2194759614 | KIF7 | c.3129G= (p.Gln1043=) c.3006G= (p.Gln1002=) n.680G= c.3126G= (p.Gln1042=) | |
15 | g.89631600C>G | CA393757135 | KIF7 | c.3129G>C (p.Gln1043His) c.3006G>C (p.Gln1002His) n.680G>C c.3126G>C (p.Gln1042His) | |
15 | g.89631600C>T | CA492292475 | KIF7 | c.3129G>A (p.Gln1043=) c.3006G>A (p.Gln1002=) n.680G>A c.3126G>A (p.Gln1042=) | dbSNP |
15 | g.89631601T>A | CA393757140 | KIF7 | c.3128A>T (p.Gln1043Leu) c.3005A>T (p.Gln1002Leu) n.679A>T c.3125A>T (p.Gln1042Leu) | gnomAD v4 |
15 | g.89631601T>C | CA393757142 | KIF7 | c.3128A>G (p.Gln1043Arg) c.3005A>G (p.Gln1002Arg) n.679A>G c.3125A>G (p.Gln1042Arg) | gnomAD v4 |
15 | g.89631601T>G | CA393757138 | KIF7 | c.3128A>C (p.Gln1043Pro) c.3005A>C (p.Gln1002Pro) n.679A>C c.3125A>C (p.Gln1042Pro) | |
15 | g.89631602G>A | CA7727862 | KIF7 | c.3127C>T (p.Gln1043Ter) c.3004C>T (p.Gln1002Ter) n.678C>T c.3124C>T (p.Gln1042Ter) | dbSNP ExAC gnomAD v4 |
15 | g.89631602G>C | CA393757144 | KIF7 | c.3127C>G (p.Gln1043Glu) c.3004C>G (p.Gln1002Glu) n.678C>G c.3124C>G (p.Gln1042Glu) | gnomAD v4 |
15 | g.89631602G= | CA2194759617 | KIF7 | c.3127C= (p.Gln1043=) c.3004C= (p.Gln1002=) n.678C= c.3124C= (p.Gln1042=) | |
15 | g.89631602G>T | CA393757147 | KIF7 | c.3127C>A (p.Gln1043Lys) c.3004C>A (p.Gln1002Lys) n.678C>A c.3124C>A (p.Gln1042Lys) | gnomAD v4 |
15 | g.89631603C>A | CA7727863 | KIF7 | c.3126G>T (p.Gln1042His) c.3003G>T (p.Gln1001His) n.677G>T c.3123G>T (p.Gln1041His) | dbSNP ExAC gnomAD v4 |
15 | g.89631603C= | CA2194759621 | KIF7 | c.3126G= (p.Gln1042=) c.3003G= (p.Gln1001=) n.677G= c.3123G= (p.Gln1041=) | |
15 | g.89631603C>G | CA393757150 | KIF7 | c.3126G>C (p.Gln1042His) c.3003G>C (p.Gln1001His) n.677G>C c.3123G>C (p.Gln1041His) | COSMIC COSMIC |
15 | g.89631603C>T | CA492292476 | KIF7 | c.3126G>A (p.Gln1042=) c.3003G>A (p.Gln1001=) n.677G>A c.3123G>A (p.Gln1041=) | |
15 | g.89631604T>A | CA393757157 | KIF7 | c.3125A>T (p.Gln1042Leu) c.3002A>T (p.Gln1001Leu) n.676A>T c.3122A>T (p.Gln1041Leu) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631604T>C | CA393757153 | KIF7 | c.3125A>G (p.Gln1042Arg) c.3002A>G (p.Gln1001Arg) n.676A>G c.3122A>G (p.Gln1041Arg) | |
15 | g.89631604T>G | CA393757154 | KIF7 | c.3125A>C (p.Gln1042Pro) c.3002A>C (p.Gln1001Pro) n.676A>C c.3122A>C (p.Gln1041Pro) | |
15 | g.89631604T= | CA2194759624 | KIF7 | c.3125A= (p.Gln1042=) c.3002A= (p.Gln1001=) n.676A= c.3122A= (p.Gln1041=) | |
15 | g.89631605G>A | CA020318 | KIF7 | c.3124C>T (p.Gln1042Ter) c.3001C>T (p.Gln1001Ter) n.675C>T c.3121C>T (p.Gln1041Ter) | ClinVar dbSNP gnomAD v4 |
15 | g.89631605G>C | CA393757160 | KIF7 | c.3124C>G (p.Gln1042Glu) c.3001C>G (p.Gln1001Glu) n.675C>G c.3121C>G (p.Gln1041Glu) | |
15 | g.89631605G= | CA2194759630 | KIF7 | c.3124C= (p.Gln1042=) c.3001C= (p.Gln1001=) n.675C= c.3121C= (p.Gln1041=) | |
15 | g.89631605G>T | CA393757162 | KIF7 | c.3124C>A (p.Gln1042Lys) c.3001C>A (p.Gln1001Lys) n.675C>A c.3121C>A (p.Gln1041Lys) | gnomAD v4 |
15 | g.89631606C>A | CA393757163 | KIF7 | c.3123G>T (p.Gln1041His) c.3000G>T (p.Gln1000His) n.674G>T c.3120G>T (p.Gln1040His) | gnomAD v4 |
15 | g.89631606C>G | CA393757165 | KIF7 | c.3123G>C (p.Gln1041His) c.3000G>C (p.Gln1000His) n.674G>C c.3120G>C (p.Gln1040His) | |
15 | g.89631606C>T | CA492292477 | KIF7 | c.3123G>A (p.Gln1041=) c.3000G>A (p.Gln1000=) n.674G>A c.3120G>A (p.Gln1040=) | |
15 | g.89631607T>A | CA393757172 | KIF7 | c.3122A>T (p.Gln1041Leu) c.2999A>T (p.Gln1000Leu) n.673A>T c.3119A>T (p.Gln1040Leu) | |
15 | g.89631607T>C | CA393757169 | KIF7 | c.3122A>G (p.Gln1041Arg) c.2999A>G (p.Gln1000Arg) n.673A>G c.3119A>G (p.Gln1040Arg) | gnomAD v4 |
15 | g.89631607T>G | CA393757168 | KIF7 | c.3122A>C (p.Gln1041Pro) c.2999A>C (p.Gln1000Pro) n.673A>C c.3119A>C (p.Gln1040Pro) | |
15 | g.89631608G>A | CA393757173 | KIF7 | c.3121C>T (p.Gln1041Ter) c.2998C>T (p.Gln1000Ter) n.672C>T c.3118C>T (p.Gln1040Ter) | gnomAD v4 |
15 | g.89631608G>C | CA393757177 | KIF7 | c.3121C>G (p.Gln1041Glu) c.2998C>G (p.Gln1000Glu) n.672C>G c.3118C>G (p.Gln1040Glu) | |
15 | g.89631608G>T | CA393757175 | KIF7 | c.3121C>A (p.Gln1041Lys) c.2998C>A (p.Gln1000Lys) n.672C>A c.3118C>A (p.Gln1040Lys) | gnomAD v4 |
15 | g.89631609G>A | CA492292478 | KIF7 | c.3120C>T (p.Ser1040=) c.2997C>T (p.Ser999=) n.671C>T c.3117C>T (p.Ser1039=) | |
15 | g.89631609G>C | CA393757180 | KIF7 | c.3120C>G (p.Ser1040Arg) c.2997C>G (p.Ser999Arg) n.671C>G c.3117C>G (p.Ser1039Arg) | |
15 | g.89631609G>T | CA393757182 | KIF7 | c.3120C>A (p.Ser1040Arg) c.2997C>A (p.Ser999Arg) n.671C>A c.3117C>A (p.Ser1039Arg) | gnomAD v4 |
15 | g.89631610C>A | CA393757183 | KIF7 | c.3119G>T (p.Ser1040Ile) c.2996G>T (p.Ser999Ile) n.670G>T c.3116G>T (p.Ser1039Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631610C= | CA2194759635 | KIF7 | c.3119G= (p.Ser1040=) c.2996G= (p.Ser999=) n.670G= c.3116G= (p.Ser1039=) | |
15 | g.89631610C>G | CA393757184 | KIF7 | c.3119G>C (p.Ser1040Thr) c.2996G>C (p.Ser999Thr) n.670G>C c.3116G>C (p.Ser1039Thr) | |
15 | g.89631610C>T | CA393757185 | KIF7 | c.3119G>A (p.Ser1040Asn) c.2996G>A (p.Ser999Asn) n.670G>A c.3116G>A (p.Ser1039Asn) | |
15 | g.89631611T>A | CA393757188 | KIF7 | c.3118A>T (p.Ser1040Cys) c.2995A>T (p.Ser999Cys) n.669A>T c.3115A>T (p.Ser1039Cys) | |
15 | g.89631611T>C | CA393757190 | KIF7 | c.3118A>G (p.Ser1040Gly) c.2995A>G (p.Ser999Gly) n.669A>G c.3115A>G (p.Ser1039Gly) | gnomAD v4 |
15 | g.89631611T>G | CA393757192 | KIF7 | c.3118A>C (p.Ser1040Arg) c.2995A>C (p.Ser999Arg) n.669A>C c.3115A>C (p.Ser1039Arg) | dbSNP |
15 | g.89631612C>A | CA393757194 | KIF7 | c.3117G>T (p.Gln1039His) c.2994G>T (p.Gln998His) n.668G>T c.3114G>T (p.Gln1038His) | |
15 | g.89631612C>G | CA393757196 | KIF7 | c.3117G>C (p.Gln1039His) c.2994G>C (p.Gln998His) n.668G>C c.3114G>C (p.Gln1038His) | gnomAD v4 |
15 | g.89631612C>T | CA492292479 | KIF7 | c.3117G>A (p.Gln1039=) c.2994G>A (p.Gln998=) n.668G>A c.3114G>A (p.Gln1038=) | |
15 | g.89631613T>A | CA393757198 | KIF7 | c.3116A>T (p.Gln1039Leu) c.2993A>T (p.Gln998Leu) n.667A>T c.3113A>T (p.Gln1038Leu) | |
15 | g.89631613T>C | CA393757200 | KIF7 | c.3116A>G (p.Gln1039Arg) c.2993A>G (p.Gln998Arg) n.667A>G c.3113A>G (p.Gln1038Arg) | ClinVar gnomAD v4 |
15 | g.89631613T>G | CA393757202 | KIF7 | c.3116A>C (p.Gln1039Pro) c.2993A>C (p.Gln998Pro) n.667A>C c.3113A>C (p.Gln1038Pro) | |
15 | g.89631614G>A | CA393757205 | KIF7 | c.3115C>T (p.Gln1039Ter) c.2992C>T (p.Gln998Ter) n.666C>T c.3112C>T (p.Gln1038Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631614G>C | CA393757206 | KIF7 | c.3115C>G (p.Gln1039Glu) c.2992C>G (p.Gln998Glu) n.666C>G c.3112C>G (p.Gln1038Glu) | |
15 | g.89631614G= | CA2194759638 | KIF7 | c.3115C= (p.Gln1039=) c.2992C= (p.Gln998=) n.666C= c.3112C= (p.Gln1038=) | |
15 | g.89631614G>T | CA393757208 | KIF7 | c.3115C>A (p.Gln1039Lys) c.2992C>A (p.Gln998Lys) n.666C>A c.3112C>A (p.Gln1038Lys) | gnomAD v4 |
15 | g.89631615G>A | CA492292480 | KIF7 | c.3114C>T (p.Ala1038=) c.2991C>T (p.Ala997=) n.665C>T c.3111C>T (p.Ala1037=) | |
15 | g.89631615G>C | CA492292481 | KIF7 | c.3114C>G (p.Ala1038=) c.2991C>G (p.Ala997=) n.665C>G c.3111C>G (p.Ala1037=) | |
15 | g.89631615G= | CA2194759643 | KIF7 | c.3114C= (p.Ala1038=) c.2991C= (p.Ala997=) n.665C= c.3111C= (p.Ala1037=) | |
15 | g.89631615G>T | CA492292482 | KIF7 | c.3114C>A (p.Ala1038=) c.2991C>A (p.Ala997=) n.665C>A c.3111C>A (p.Ala1037=) | ClinVar dbSNP gnomAD v4 |
15 | g.89631616G>A | CA393757211 | KIF7 | c.3113C>T (p.Ala1038Val) c.2990C>T (p.Ala997Val) n.664C>T c.3110C>T (p.Ala1037Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631616G>C | CA393757214 | KIF7 | c.3113C>G (p.Ala1038Gly) c.2990C>G (p.Ala997Gly) n.664C>G c.3110C>G (p.Ala1037Gly) | |
15 | g.89631616G= | CA2194759708 | KIF7 | c.3113C= (p.Ala1038=) c.2990C= (p.Ala997=) n.664C= c.3110C= (p.Ala1037=) | |
15 | g.89631616G>T | CA7727864 | KIF7 | c.3113C>A (p.Ala1038Asp) c.2990C>A (p.Ala997Asp) n.664C>A c.3110C>A (p.Ala1037Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631617C>A | CA393757216 | KIF7 | c.3112G>T (p.Ala1038Ser) c.2989G>T (p.Ala997Ser) n.663G>T c.3109G>T (p.Ala1037Ser) | dbSNP gnomAD v4 |
15 | g.89631617C= | CA2194759712 | KIF7 | c.3112G= (p.Ala1038=) c.2989G= (p.Ala997=) n.663G= c.3109G= (p.Ala1037=) | |
15 | g.89631617C>G | CA393757218 | KIF7 | c.3112G>C (p.Ala1038Pro) c.2989G>C (p.Ala997Pro) n.663G>C c.3109G>C (p.Ala1037Pro) | |
15 | g.89631617C>T | CA7727865 | KIF7 | c.3112G>A (p.Ala1038Thr) c.2989G>A (p.Ala997Thr) n.663G>A c.3109G>A (p.Ala1037Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631617_89631631delinsCGCTGCCCTGCCGCA | CA2194759715 | KIF7 | c.3098_3112delinsTGCGGCAGGGCAGCG (p.Leu1033=) c.2975_2989delinsTGCGGCAGGGCAGCG (p.Leu992=) n.649_663delinsTGCGGCAGGGCAGCG c.3095_3109delinsTGCGGCAGGGCAGCG (p.Leu1032=) | |
15 | g.89631621_89631641dup | CA2731483685 | KIF7 | c.3092_3112dup (p.Ser1037_Ala1038insGlyGlnLeuArgGlnGlySer) c.2969_2989dup (p.Ser996_Ala997insGlyGlnLeuArgGlnGlySer) n.643_663dup c.3089_3109dup (p.Ser1036_Ala1037insGlyGlnLeuArgGlnGlySer) | dbSNP |
15 | g.89631618G>A | CA7727866 | KIF7 | c.3111C>T (p.Ser1037=) c.2988C>T (p.Ser996=) n.662C>T c.3108C>T (p.Ser1036=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631618G>C | CA393757222 | KIF7 | c.3111C>G (p.Ser1037Arg) c.2988C>G (p.Ser996Arg) n.662C>G c.3108C>G (p.Ser1036Arg) | |
15 | g.89631618G= | CA2194759719 | KIF7 | c.3111C= (p.Ser1037=) c.2988C= (p.Ser996=) n.662C= c.3108C= (p.Ser1036=) | |
15 | g.89631618G>T | CA393757223 | KIF7 | c.3111C>A (p.Ser1037Arg) c.2988C>A (p.Ser996Arg) n.662C>A c.3108C>A (p.Ser1036Arg) | gnomAD v4 |
15 | g.89631625_89631638del | CA919614320 | KIF7 | c.3098_3111del (p.Leu1033ArgfsTer?) c.2975_2988del (p.Leu992ArgfsTer?) n.649_662del c.3095_3108del (p.Leu1032ArgfsTer?) | dbSNP |
15 | g.89631619C>A | CA393757225 | KIF7 | c.3110G>T (p.Ser1037Ile) c.2987G>T (p.Ser996Ile) n.661G>T c.3107G>T (p.Ser1036Ile) | gnomAD v4 |
15 | g.89631619C>G | CA393757227 | KIF7 | c.3110G>C (p.Ser1037Thr) c.2987G>C (p.Ser996Thr) n.661G>C c.3107G>C (p.Ser1036Thr) | |
15 | g.89631619C>T | CA393757229 | KIF7 | c.3110G>A (p.Ser1037Asn) c.2987G>A (p.Ser996Asn) n.661G>A c.3107G>A (p.Ser1036Asn) | |
15 | g.89631620T>A | CA393757232 | KIF7 | c.3109A>T (p.Ser1037Cys) c.2986A>T (p.Ser996Cys) n.660A>T c.3106A>T (p.Ser1036Cys) | |
15 | g.89631620T>C | CA393757234 | KIF7 | c.3109A>G (p.Ser1037Gly) c.2986A>G (p.Ser996Gly) n.660A>G c.3106A>G (p.Ser1036Gly) | gnomAD v4 |
15 | g.89631620T>G | CA393757236 | KIF7 | c.3109A>C (p.Ser1037Arg) c.2986A>C (p.Ser996Arg) n.660A>C c.3106A>C (p.Ser1036Arg) | gnomAD v4 |
15 | g.89631621G>A | CA492292483 | KIF7 | c.3108C>T (p.Gly1036=) c.2985C>T (p.Gly995=) n.659C>T c.3105C>T (p.Gly1035=) | gnomAD v4 |
15 | g.89631621G>C | CA492292484 | KIF7 | c.3108C>G (p.Gly1036=) c.2985C>G (p.Gly995=) n.659C>G c.3105C>G (p.Gly1035=) | gnomAD v4 |
15 | g.89631621G>T | CA492292485 | KIF7 | c.3108C>A (p.Gly1036=) c.2985C>A (p.Gly995=) n.659C>A c.3105C>A (p.Gly1035=) | gnomAD v4 |
15 | g.89631622C>A | CA393757239 | KIF7 | c.3107G>T (p.Gly1036Val) c.2984G>T (p.Gly995Val) n.658G>T c.3104G>T (p.Gly1035Val) | gnomAD v4 |
15 | g.89631622C>G | CA393757242 | KIF7 | c.3107G>C (p.Gly1036Ala) c.2984G>C (p.Gly995Ala) n.658G>C c.3104G>C (p.Gly1035Ala) | gnomAD v4 |
15 | g.89631622C>T | CA393757240 | KIF7 | c.3107G>A (p.Gly1036Asp) c.2984G>A (p.Gly995Asp) n.658G>A c.3104G>A (p.Gly1035Asp) | |
15 | g.89631624del | CA2630273953 | KIF7 | c.3107del (p.Gly1036AlafsTer?) c.2984del (p.Gly995AlafsTer?) n.658del c.3104del (p.Gly1035AlafsTer?) | gnomAD v4 |
15 | g.89631623C>A | CA393757245 | KIF7 | c.3106G>T (p.Gly1036Cys) c.2983G>T (p.Gly995Cys) n.657G>T c.3103G>T (p.Gly1035Cys) | dbSNP gnomAD v4 |
15 | g.89631623C= | CA2194759723 | KIF7 | c.3106G= (p.Gly1036=) c.2983G= (p.Gly995=) n.657G= c.3103G= (p.Gly1035=) | |
15 | g.89631623C>G | CA393757247 | KIF7 | c.3106G>C (p.Gly1036Arg) c.2983G>C (p.Gly995Arg) n.657G>C c.3103G>C (p.Gly1035Arg) | |
15 | g.89631623C>T | CA393757249 | KIF7 | c.3106G>A (p.Gly1036Ser) c.2983G>A (p.Gly995Ser) n.657G>A c.3103G>A (p.Gly1035Ser) | |
15 | g.89631624C>A | CA393757251 | KIF7 | c.3105G>T (p.Gln1035His) c.2982G>T (p.Gln994His) n.656G>T c.3102G>T (p.Gln1034His) | ClinVar |
15 | g.89631624C>G | CA393757253 | KIF7 | c.3105G>C (p.Gln1035His) c.2982G>C (p.Gln994His) n.656G>C c.3102G>C (p.Gln1034His) | |
15 | g.89631624C>T | CA492292486 | KIF7 | c.3105G>A (p.Gln1035=) c.2982G>A (p.Gln994=) n.656G>A c.3102G>A (p.Gln1034=) | gnomAD v4 |
15 | g.89631625T>A | CA393757255 | KIF7 | c.3104A>T (p.Gln1035Leu) c.2981A>T (p.Gln994Leu) n.655A>T c.3101A>T (p.Gln1034Leu) | |
15 | g.89631625T>C | CA020312 | KIF7 | c.3104A>G (p.Gln1035Arg) c.2981A>G (p.Gln994Arg) n.655A>G c.3101A>G (p.Gln1034Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631625T>G | CA393757258 | KIF7 | c.3104A>C (p.Gln1035Pro) c.2981A>C (p.Gln994Pro) n.655A>C c.3101A>C (p.Gln1034Pro) | |
15 | g.89631625T= | CA2194759728 | KIF7 | c.3104A= (p.Gln1035=) c.2981A= (p.Gln994=) n.655A= c.3101A= (p.Gln1034=) | |
15 | g.89631626G>A | CA393757260 | KIF7 | c.3103C>T (p.Gln1035Ter) c.2980C>T (p.Gln994Ter) n.654C>T c.3100C>T (p.Gln1034Ter) | gnomAD v4 |
15 | g.89631626G>C | CA393757262 | KIF7 | c.3103C>G (p.Gln1035Glu) c.2980C>G (p.Gln994Glu) n.654C>G c.3100C>G (p.Gln1034Glu) | |
15 | g.89631626G>T | CA393757264 | KIF7 | c.3103C>A (p.Gln1035Lys) c.2980C>A (p.Gln994Lys) n.654C>A c.3100C>A (p.Gln1034Lys) | gnomAD v4 |
15 | g.89631627C>A | CA7727867 | KIF7 | c.3102G>T (p.Arg1034=) c.2979G>T (p.Arg993=) n.653G>T c.3099G>T (p.Arg1033=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631627C= | CA2194759730 | KIF7 | c.3102G= (p.Arg1034=) c.2979G= (p.Arg993=) n.653G= c.3099G= (p.Arg1033=) | |
15 | g.89631627C>G | CA492292488 | KIF7 | c.3102G>C (p.Arg1034=) c.2979G>C (p.Arg993=) n.653G>C c.3099G>C (p.Arg1033=) | |
15 | g.89631627C>T | CA492292487 | KIF7 | c.3102G>A (p.Arg1034=) c.2979G>A (p.Arg993=) n.653G>A c.3099G>A (p.Arg1033=) | dbSNP gnomAD v4 |
15 | g.89631628C>A | CA393757271 | KIF7 | c.3101G>T (p.Arg1034Leu) c.2978G>T (p.Arg993Leu) n.652G>T c.3098G>T (p.Arg1033Leu) | gnomAD v4 |
15 | g.89631628C= | CA2194759736 | KIF7 | c.3101G= (p.Arg1034=) c.2978G= (p.Arg993=) n.652G= c.3098G= (p.Arg1033=) | |
15 | g.89631628C>G | CA393757269 | KIF7 | c.3101G>C (p.Arg1034Pro) c.2978G>C (p.Arg993Pro) n.652G>C c.3098G>C (p.Arg1033Pro) | dbSNP |
15 | g.89631628C>T | CA7727868 | KIF7 | c.3101G>A (p.Arg1034Gln) c.2978G>A (p.Arg993Gln) n.652G>A c.3098G>A (p.Arg1033Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631629G>A | CA274566524 | KIF7 | c.3100C>T (p.Arg1034Trp) c.2977C>T (p.Arg993Trp) n.651C>T c.3097C>T (p.Arg1033Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631629G>C | CA393757274 | KIF7 | c.3100C>G (p.Arg1034Gly) c.2977C>G (p.Arg993Gly) n.651C>G c.3097C>G (p.Arg1033Gly) | |
15 | g.89631629G= | CA2194759743 | KIF7 | c.3100C= (p.Arg1034=) c.2977C= (p.Arg993=) n.651C= c.3097C= (p.Arg1033=) | |
15 | g.89631629G>T | CA492292489 | KIF7 | c.3100C>A (p.Arg1034=) c.2977C>A (p.Arg993=) n.651C>A c.3097C>A (p.Arg1033=) | gnomAD v4 |
15 | g.89631630C>A | CA492292490 | KIF7 | c.3099G>T (p.Leu1033=) c.2976G>T (p.Leu992=) n.650G>T c.3096G>T (p.Leu1032=) | |
15 | g.89631630C>G | CA492292491 | KIF7 | c.3099G>C (p.Leu1033=) c.2976G>C (p.Leu992=) n.650G>C c.3096G>C (p.Leu1032=) | |
15 | g.89631630C>T | CA492292492 | KIF7 | c.3099G>A (p.Leu1033=) c.2976G>A (p.Leu992=) n.650G>A c.3096G>A (p.Leu1032=) | gnomAD v4 |
15 | g.89631631A>C | CA393757276 | KIF7 | c.3098T>G (p.Leu1033Arg) c.2975T>G (p.Leu992Arg) n.649T>G c.3095T>G (p.Leu1032Arg) | |
15 | g.89631631A>G | CA393757278 | KIF7 | c.3098T>C (p.Leu1033Pro) c.2975T>C (p.Leu992Pro) n.649T>C c.3095T>C (p.Leu1032Pro) | gnomAD v4 |
15 | g.89631631A>T | CA393757280 | KIF7 | c.3098T>A (p.Leu1033Gln) c.2975T>A (p.Leu992Gln) n.649T>A c.3095T>A (p.Leu1032Gln) | |
15 | g.89631632del | CA2630273971 | KIF7 | c.3097del (p.Leu1033CysfsTer?) c.2974del (p.Leu992CysfsTer?) n.648del c.3094del (p.Leu1032CysfsTer?) | gnomAD v4 |
15 | g.89631632G>A | CA274566529 | KIF7 | c.3097C>T (p.Leu1033=) c.2974C>T (p.Leu992=) n.648C>T c.3094C>T (p.Leu1032=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631632G>C | CA393757282 | KIF7 | c.3097C>G (p.Leu1033Val) c.2974C>G (p.Leu992Val) n.648C>G c.3094C>G (p.Leu1032Val) | |
15 | g.89631632G= | CA2194759748 | KIF7 | c.3097C= (p.Leu1033=) c.2974C= (p.Leu992=) n.648C= c.3094C= (p.Leu1032=) | |
15 | g.89631632G>T | CA274566527 | KIF7 | c.3097C>A (p.Leu1033Met) c.2974C>A (p.Leu992Met) n.648C>A c.3094C>A (p.Leu1032Met) | dbSNP gnomAD v4 |
15 | g.89631633C>A | CA393757285 | KIF7 | c.3096G>T (p.Gln1032His) c.2973G>T (p.Gln991His) n.647G>T c.3093G>T (p.Gln1031His) | gnomAD v4 |
15 | g.89631633C>G | CA393757286 | KIF7 | c.3096G>C (p.Gln1032His) c.2973G>C (p.Gln991His) n.647G>C c.3093G>C (p.Gln1031His) | |
15 | g.89631633C>T | CA492292493 | KIF7 | c.3096G>A (p.Gln1032=) c.2973G>A (p.Gln991=) n.647G>A c.3093G>A (p.Gln1031=) | |
15 | g.89631634T>A | CA393757289 | KIF7 | c.3095A>T (p.Gln1032Leu) c.2972A>T (p.Gln991Leu) n.646A>T c.3092A>T (p.Gln1031Leu) | |
15 | g.89631634T>C | CA393757291 | KIF7 | c.3095A>G (p.Gln1032Arg) c.2972A>G (p.Gln991Arg) n.646A>G c.3092A>G (p.Gln1031Arg) | |
15 | g.89631634T>G | CA393757293 | KIF7 | c.3095A>C (p.Gln1032Pro) c.2972A>C (p.Gln991Pro) n.646A>C c.3092A>C (p.Gln1031Pro) | |
15 | g.89631635G>A | CA393757294 | KIF7 | c.3094C>T (p.Gln1032Ter) c.2971C>T (p.Gln991Ter) n.645C>T c.3091C>T (p.Gln1031Ter) | |
15 | g.89631635G>C | CA393757299 | KIF7 | c.3094C>G (p.Gln1032Glu) c.2971C>G (p.Gln991Glu) n.645C>G c.3091C>G (p.Gln1031Glu) | gnomAD v4 |
15 | g.89631635G= | CA2194759753 | KIF7 | c.3094C= (p.Gln1032=) c.2971C= (p.Gln991=) n.645C= c.3091C= (p.Gln1031=) | |
15 | g.89631635G>T | CA393757297 | KIF7 | c.3094C>A (p.Gln1032Lys) c.2971C>A (p.Gln991Lys) n.645C>A c.3091C>A (p.Gln1031Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631636C>A | CA492292494 | KIF7 | c.3093G>T (p.Gly1031=) c.2970G>T (p.Gly990=) n.644G>T c.3090G>T (p.Gly1030=) | |
15 | g.89631636C>G | CA492292495 | KIF7 | c.3093G>C (p.Gly1031=) c.2970G>C (p.Gly990=) n.644G>C c.3090G>C (p.Gly1030=) | |
15 | g.89631636C>T | CA492292496 | KIF7 | c.3093G>A (p.Gly1031=) c.2970G>A (p.Gly990=) n.644G>A c.3090G>A (p.Gly1030=) | gnomAD v4 |
15 | g.89631637C>A | CA393757300 | KIF7 | c.3092G>T (p.Gly1031Val) c.2969G>T (p.Gly990Val) n.643G>T c.3089G>T (p.Gly1030Val) | gnomAD v4 |
15 | g.89631637C= | CA2194759757 | KIF7 | c.3092G= (p.Gly1031=) c.2969G= (p.Gly990=) n.643G= c.3089G= (p.Gly1030=) | |
15 | g.89631637C>G | CA393757304 | KIF7 | c.3092G>C (p.Gly1031Ala) c.2969G>C (p.Gly990Ala) n.643G>C c.3089G>C (p.Gly1030Ala) | |
15 | g.89631637C>T | CA393757303 | KIF7 | c.3092G>A (p.Gly1031Glu) c.2969G>A (p.Gly990Glu) n.643G>A c.3089G>A (p.Gly1030Glu) | dbSNP gnomAD v4 |
15 | g.89631638C>A | CA7727870 | KIF7 | c.3091G>T (p.Gly1031Trp) c.2968G>T (p.Gly990Trp) n.642G>T c.3088G>T (p.Gly1030Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631638C= | CA2194759760 | KIF7 | c.3091G= (p.Gly1031=) c.2968G= (p.Gly990=) n.642G= c.3088G= (p.Gly1030=) | |
15 | g.89631638C>G | CA393757307 | KIF7 | c.3091G>C (p.Gly1031Arg) c.2968G>C (p.Gly990Arg) n.642G>C c.3088G>C (p.Gly1030Arg) | gnomAD v4 |
15 | g.89631638C>T | CA7727869 | KIF7 | c.3091G>A (p.Gly1031Arg) c.2968G>A (p.Gly990Arg) n.642G>A c.3088G>A (p.Gly1030Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631639G>A | CA7727871 | KIF7 | c.3090C>T (p.Ser1030=) c.2967C>T (p.Ser989=) n.641C>T c.3087C>T (p.Ser1029=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.89631639G>C | CA393757310 | KIF7 | c.3090C>G (p.Ser1030Arg) c.2967C>G (p.Ser989Arg) n.641C>G c.3087C>G (p.Ser1029Arg) | |
15 | g.89631639G= | CA2194759767 | KIF7 | c.3090C= (p.Ser1030=) c.2967C= (p.Ser989=) n.641C= c.3087C= (p.Ser1029=) | |
15 | g.89631639G>T | CA393757312 | KIF7 | c.3090C>A (p.Ser1030Arg) c.2967C>A (p.Ser989Arg) n.641C>A c.3087C>A (p.Ser1029Arg) | gnomAD v4 |
15 | g.89631640C>A | CA393757315 | KIF7 | c.3089G>T (p.Ser1030Ile) c.2966G>T (p.Ser989Ile) n.640G>T c.3086G>T (p.Ser1029Ile) | gnomAD v4 |
15 | g.89631640C>G | CA393757316 | KIF7 | c.3089G>C (p.Ser1030Thr) c.2966G>C (p.Ser989Thr) n.640G>C c.3086G>C (p.Ser1029Thr) | |
15 | g.89631640C>T | CA393757319 | KIF7 | c.3089G>A (p.Ser1030Asn) c.2966G>A (p.Ser989Asn) n.640G>A c.3086G>A (p.Ser1029Asn) | |
15 | g.89631641T>A | CA393757321 | KIF7 | c.3088A>T (p.Ser1030Cys) c.2965A>T (p.Ser989Cys) n.639A>T c.3085A>T (p.Ser1029Cys) | |
15 | g.89631641T>C | CA393757323 | KIF7 | c.3088A>G (p.Ser1030Gly) c.2965A>G (p.Ser989Gly) n.639A>G c.3085A>G (p.Ser1029Gly) | |
15 | g.89631641T>G | CA393757325 | KIF7 | c.3088A>C (p.Ser1030Arg) c.2965A>C (p.Ser989Arg) n.639A>C c.3085A>C (p.Ser1029Arg) | |
15 | g.89631642C>A | CA393757329 | KIF7 | c.3087G>T (p.Lys1029Asn) c.2964G>T (p.Lys988Asn) n.638G>T c.3084G>T (p.Lys1028Asn) | gnomAD v4 |
15 | g.89631642C>G | CA393757327 | KIF7 | c.3087G>C (p.Lys1029Asn) c.2964G>C (p.Lys988Asn) n.638G>C c.3084G>C (p.Lys1028Asn) | ClinVar |
15 | g.89631642C>T | CA492292497 | KIF7 | c.3087G>A (p.Lys1029=) c.2964G>A (p.Lys988=) n.638G>A c.3084G>A (p.Lys1028=) | |
15 | g.89631643T>A | CA393757331 | KIF7 | c.3086A>T (p.Lys1029Met) c.2963A>T (p.Lys988Met) n.637A>T c.3083A>T (p.Lys1028Met) | |
15 | g.89631643T>C | CA393757333 | KIF7 | c.3086A>G (p.Lys1029Arg) c.2963A>G (p.Lys988Arg) n.637A>G c.3083A>G (p.Lys1028Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631643T>G | CA393757335 | KIF7 | c.3086A>C (p.Lys1029Thr) c.2963A>C (p.Lys988Thr) n.637A>C c.3083A>C (p.Lys1028Thr) | |
15 | g.89631643T= | CA2194759773 | KIF7 | c.3086A= (p.Lys1029=) c.2963A= (p.Lys988=) n.637A= c.3083A= (p.Lys1028=) | |
15 | g.89631644T>A | CA393757337 | KIF7 | c.3085A>T (p.Lys1029Ter) c.2962A>T (p.Lys988Ter) n.636A>T c.3082A>T (p.Lys1028Ter) | gnomAD v4 |
15 | g.89631644T>C | CA393757340 | KIF7 | c.3085A>G (p.Lys1029Glu) c.2962A>G (p.Lys988Glu) n.636A>G c.3082A>G (p.Lys1028Glu) | |
15 | g.89631644T>G | CA393757342 | KIF7 | c.3085A>C (p.Lys1029Gln) c.2962A>C (p.Lys988Gln) n.636A>C c.3082A>C (p.Lys1028Gln) | |
15 | g.89631644_89631647delinsTCTC | CA2194759776 | KIF7 | c.3082_3085delinsGAGA (p.Glu1028=) c.2959_2962delinsGAGA (p.Glu987=) n.633_636delinsGAGA c.3079_3082delinsGAGA (p.Glu1027=) | |
15 | g.89631645C>A | CA393757344 | KIF7 | c.3084G>T (p.Glu1028Asp) c.2961G>T (p.Glu987Asp) n.635G>T c.3081G>T (p.Glu1027Asp) | gnomAD v4 |
15 | g.89631645C>G | CA393757346 | KIF7 | c.3084G>C (p.Glu1028Asp) c.2961G>C (p.Glu987Asp) n.635G>C c.3081G>C (p.Glu1027Asp) | |
15 | g.89631645C>T | CA492292498 | KIF7 | c.3084G>A (p.Glu1028=) c.2961G>A (p.Glu987=) n.635G>A c.3081G>A (p.Glu1027=) | gnomAD v4 COSMIC COSMIC |
15 | g.89631645_89631647del | CA619858274 | KIF7 | c.3082_3084del (p.Glu1028del) c.2959_2961del (p.Glu987del) n.633_635del c.3079_3081del (p.Glu1027del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631646T>A | CA020307 | KIF7 | c.3083A>T (p.Glu1028Val) c.2960A>T (p.Glu987Val) n.634A>T c.3080A>T (p.Glu1027Val) | ClinVar dbSNP gnomAD v4 |
15 | g.89631646T>C | CA393757350 | KIF7 | c.3083A>G (p.Glu1028Gly) c.2960A>G (p.Glu987Gly) n.634A>G c.3080A>G (p.Glu1027Gly) | |
15 | g.89631646T>G | CA393757352 | KIF7 | c.3083A>C (p.Glu1028Ala) c.2960A>C (p.Glu987Ala) n.634A>C c.3080A>C (p.Glu1027Ala) | |
15 | g.89631646T= | CA2194759786 | KIF7 | c.3083A= (p.Glu1028=) c.2960A= (p.Glu987=) n.634A= c.3080A= (p.Glu1027=) | |
15 | g.89631647C>A | CA393757357 | KIF7 | c.3082G>T (p.Glu1028Ter) c.2959G>T (p.Glu987Ter) n.633G>T c.3079G>T (p.Glu1027Ter) | gnomAD v4 |
15 | g.89631647C= | CA2194759796 | KIF7 | c.3082G= (p.Glu1028=) c.2959G= (p.Glu987=) n.633G= c.3079G= (p.Glu1027=) | |
15 | g.89631647C>G | CA393757356 | KIF7 | c.3082G>C (p.Glu1028Gln) c.2959G>C (p.Glu987Gln) n.633G>C c.3079G>C (p.Glu1027Gln) | |
15 | g.89631647C>T | CA7727872 | KIF7 | c.3082G>A (p.Glu1028Lys) c.2959G>A (p.Glu987Lys) n.633G>A c.3079G>A (p.Glu1027Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631648G>A | CA7727873 | KIF7 | c.3081C>T (p.Ser1027=) c.2958C>T (p.Ser986=) n.632C>T c.3078C>T (p.Ser1026=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631648G>C | CA492292499 | KIF7 | c.3081C>G (p.Ser1027=) c.2958C>G (p.Ser986=) n.632C>G c.3078C>G (p.Ser1026=) | gnomAD v4 |
15 | g.89631648G= | CA2194759802 | KIF7 | c.3081C= (p.Ser1027=) c.2958C= (p.Ser986=) n.632C= c.3078C= (p.Ser1026=) | |
15 | g.89631648G>T | CA492292500 | KIF7 | c.3081C>A (p.Ser1027=) c.2958C>A (p.Ser986=) n.632C>A c.3078C>A (p.Ser1026=) | gnomAD v4 |
15 | g.89631649G>A | CA7727874 | KIF7 | c.3080C>T (p.Ser1027Phe) c.2957C>T (p.Ser986Phe) n.631C>T c.3077C>T (p.Ser1026Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631649G>C | CA393757358 | KIF7 | c.3080C>G (p.Ser1027Cys) c.2957C>G (p.Ser986Cys) n.631C>G c.3077C>G (p.Ser1026Cys) | |
15 | g.89631649G= | CA2194759807 | KIF7 | c.3080C= (p.Ser1027=) c.2957C= (p.Ser986=) n.631C= c.3077C= (p.Ser1026=) | |
15 | g.89631649G>T | CA393757359 | KIF7 | c.3080C>A (p.Ser1027Tyr) c.2957C>A (p.Ser986Tyr) n.631C>A c.3077C>A (p.Ser1026Tyr) | gnomAD v4 |
15 | g.89631650A>C | CA393757360 | KIF7 | c.3079T>G (p.Ser1027Ala) c.2956T>G (p.Ser986Ala) n.630T>G c.3076T>G (p.Ser1026Ala) | |
15 | g.89631650A>G | CA393757361 | KIF7 | c.3079T>C (p.Ser1027Pro) c.2956T>C (p.Ser986Pro) n.630T>C c.3076T>C (p.Ser1026Pro) | ClinVar dbSNP gnomAD v4 |
15 | g.89631650A>T | CA393757362 | KIF7 | c.3079T>A (p.Ser1027Thr) c.2956T>A (p.Ser986Thr) n.630T>A c.3076T>A (p.Ser1026Thr) | |
15 | g.89631651C>A | CA492292501 | KIF7 | c.3078G>T (p.Leu1026=) c.2955G>T (p.Leu985=) n.629G>T c.3075G>T (p.Leu1025=) | |
15 | g.89631651C= | CA2194759812 | KIF7 | c.3078G= (p.Leu1026=) c.2955G= (p.Leu985=) n.629G= c.3075G= (p.Leu1025=) | |
15 | g.89631651C>G | CA492292502 | KIF7 | c.3078G>C (p.Leu1026=) c.2955G>C (p.Leu985=) n.629G>C c.3075G>C (p.Leu1025=) | |
15 | g.89631651C>T | CA492292503 | KIF7 | c.3078G>A (p.Leu1026=) c.2955G>A (p.Leu985=) n.629G>A c.3075G>A (p.Leu1025=) | dbSNP gnomAD v4 |
15 | g.89631652A>C | CA393757363 | KIF7 | c.3077T>G (p.Leu1026Arg) c.2954T>G (p.Leu985Arg) n.628T>G c.3074T>G (p.Leu1025Arg) | |
15 | g.89631652A>G | CA393757365 | KIF7 | c.3077T>C (p.Leu1026Pro) c.2954T>C (p.Leu985Pro) n.628T>C c.3074T>C (p.Leu1025Pro) | gnomAD v4 |
15 | g.89631652A>T | CA393757364 | KIF7 | c.3077T>A (p.Leu1026Gln) c.2954T>A (p.Leu985Gln) n.628T>A c.3074T>A (p.Leu1025Gln) | gnomAD v4 |
15 | g.89631653G>A | CA492292504 | KIF7 | c.3076C>T (p.Leu1026=) c.2953C>T (p.Leu985=) n.627C>T c.3073C>T (p.Leu1025=) | gnomAD v4 |
15 | g.89631653G>C | CA393757366 | KIF7 | c.3076C>G (p.Leu1026Val) c.2953C>G (p.Leu985Val) n.627C>G c.3073C>G (p.Leu1025Val) | |
15 | g.89631653G>T | CA393757367 | KIF7 | c.3076C>A (p.Leu1026Met) c.2953C>A (p.Leu985Met) n.627C>A c.3073C>A (p.Leu1025Met) | gnomAD v4 |
15 | g.89631654C>A | CA393757369 | KIF7 | c.3075G>T (p.Glu1025Asp) c.2952G>T (p.Glu984Asp) n.626G>T c.3072G>T (p.Glu1024Asp) | gnomAD v4 |
15 | g.89631654C>G | CA393757370 | KIF7 | c.3075G>C (p.Glu1025Asp) c.2952G>C (p.Glu984Asp) n.626G>C c.3072G>C (p.Glu1024Asp) | |
15 | g.89631654C>T | CA492292505 | KIF7 | c.3075G>A (p.Glu1025=) c.2952G>A (p.Glu984=) n.626G>A c.3072G>A (p.Glu1024=) | gnomAD v4 |
15 | g.89631655T>A | CA393757371 | KIF7 | c.3074A>T (p.Glu1025Val) c.2951A>T (p.Glu984Val) n.625A>T c.3071A>T (p.Glu1024Val) | gnomAD v4 |
15 | g.89631655T>C | CA393757373 | KIF7 | c.3074A>G (p.Glu1025Gly) c.2951A>G (p.Glu984Gly) n.625A>G c.3071A>G (p.Glu1024Gly) | gnomAD v4 |
15 | g.89631655T>G | CA393757372 | KIF7 | c.3074A>C (p.Glu1025Ala) c.2951A>C (p.Glu984Ala) n.625A>C c.3071A>C (p.Glu1024Ala) | |
15 | g.89631656C>A | CA393757374 | KIF7 | c.3073G>T (p.Glu1025Ter) c.2950G>T (p.Glu984Ter) n.624G>T c.3070G>T (p.Glu1024Ter) | gnomAD v4 |
15 | g.89631656C>G | CA393757375 | KIF7 | c.3073G>C (p.Glu1025Gln) c.2950G>C (p.Glu984Gln) n.624G>C c.3070G>C (p.Glu1024Gln) | |
15 | g.89631656C>T | CA393757376 | KIF7 | c.3073G>A (p.Glu1025Lys) c.2950G>A (p.Glu984Lys) n.624G>A c.3070G>A (p.Glu1024Lys) | gnomAD v4 COSMIC COSMIC |
15 | g.89631656_89631659delinsCCTT | CA2194759818 | KIF7 | c.3070_3073delinsAAGG (p.Lys1024=) c.2947_2950delinsAAGG (p.Lys983=) n.621_624delinsAAGG c.3067_3070delinsAAGG (p.Lys1023=) | |
15 | g.89631657C>A | CA393757377 | KIF7 | c.3072G>T (p.Lys1024Asn) c.2949G>T (p.Lys983Asn) n.623G>T c.3069G>T (p.Lys1023Asn) | gnomAD v4 |
15 | g.89631657C= | CA2194759825 | KIF7 | c.3072G= (p.Lys1024=) c.2949G= (p.Lys983=) n.623G= c.3069G= (p.Lys1023=) | |
15 | g.89631657C>G | CA393757378 | KIF7 | c.3072G>C (p.Lys1024Asn) c.2949G>C (p.Lys983Asn) n.623G>C c.3069G>C (p.Lys1023Asn) | |
15 | g.89631657C>T | CA492292506 | KIF7 | c.3072G>A (p.Lys1024=) c.2949G>A (p.Lys983=) n.623G>A c.3069G>A (p.Lys1023=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631659_89631661del | CA716957318 | KIF7 | c.3070_3072del (p.Lys1024del) c.2947_2949del (p.Lys983del) n.621_623del c.3067_3069del (p.Lys1023del) | dbSNP gnomAD v4 |
15 | g.89631658T>A | CA393757379 | KIF7 | c.3071A>T (p.Lys1024Met) c.2948A>T (p.Lys983Met) n.622A>T c.3068A>T (p.Lys1023Met) | gnomAD v4 |
15 | g.89631658T>C | CA393757380 | KIF7 | c.3071A>G (p.Lys1024Arg) c.2948A>G (p.Lys983Arg) n.622A>G c.3068A>G (p.Lys1023Arg) | dbSNP |
15 | g.89631658T>G | CA393757381 | KIF7 | c.3071A>C (p.Lys1024Thr) c.2948A>C (p.Lys983Thr) n.622A>C c.3068A>C (p.Lys1023Thr) | |
15 | g.89631658T= | CA2194759828 | KIF7 | c.3071A= (p.Lys1024=) c.2948A= (p.Lys983=) n.622A= c.3068A= (p.Lys1023=) | |
15 | g.89631659T>A | CA393757383 | KIF7 | c.3070A>T (p.Lys1024Ter) c.2947A>T (p.Lys983Ter) n.621A>T c.3067A>T (p.Lys1023Ter) | |
15 | g.89631659T>C | CA393757385 | KIF7 | c.3070A>G (p.Lys1024Glu) c.2947A>G (p.Lys983Glu) n.621A>G c.3067A>G (p.Lys1023Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631659T>G | CA393757387 | KIF7 | c.3070A>C (p.Lys1024Gln) c.2947A>C (p.Lys983Gln) n.621A>C c.3067A>C (p.Lys1023Gln) | |
15 | g.89631659T= | CA2194759834 | KIF7 | c.3070A= (p.Lys1024=) c.2947A= (p.Lys983=) n.621A= c.3067A= (p.Lys1023=) | |
15 | g.89631660C>A | CA393757389 | KIF7 | c.3069G>T (p.Glu1023Asp) c.2946G>T (p.Glu982Asp) n.620G>T c.3066G>T (p.Glu1022Asp) | gnomAD v4 |
15 | g.89631660C>G | CA393757391 | KIF7 | c.3069G>C (p.Glu1023Asp) c.2946G>C (p.Glu982Asp) n.620G>C c.3066G>C (p.Glu1022Asp) | |
15 | g.89631660C>T | CA492292507 | KIF7 | c.3069G>A (p.Glu1023=) c.2946G>A (p.Glu982=) n.620G>A c.3066G>A (p.Glu1022=) | gnomAD v4 |
15 | g.89631661T>A | CA393757392 | KIF7 | c.3068A>T (p.Glu1023Val) c.2945A>T (p.Glu982Val) n.619A>T c.3065A>T (p.Glu1022Val) | |
15 | g.89631661T>C | CA393757394 | KIF7 | c.3068A>G (p.Glu1023Gly) c.2945A>G (p.Glu982Gly) n.619A>G c.3065A>G (p.Glu1022Gly) | gnomAD v4 |
15 | g.89631661T>G | CA393757393 | KIF7 | c.3068A>C (p.Glu1023Ala) c.2945A>C (p.Glu982Ala) n.619A>C c.3065A>C (p.Glu1022Ala) | |
15 | g.89631662C>A | CA276009 | KIF7 | c.3067G>T (p.Glu1023Ter) c.2944G>T (p.Glu982Ter) n.618G>T c.3064G>T (p.Glu1022Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631662C= | CA2194759838 | KIF7 | c.3067G= (p.Glu1023=) c.2944G= (p.Glu982=) n.618G= c.3064G= (p.Glu1022=) | |
15 | g.89631662C>G | CA393757401 | KIF7 | c.3067G>C (p.Glu1023Gln) c.2944G>C (p.Glu982Gln) n.618G>C c.3064G>C (p.Glu1022Gln) | |
15 | g.89631662C>T | CA393757400 | KIF7 | c.3067G>A (p.Glu1023Lys) c.2944G>A (p.Glu982Lys) n.618G>A c.3064G>A (p.Glu1022Lys) | |
15 | g.89631663C>A | CA492292509 | KIF7 | c.3066G>T (p.Leu1022=) c.2943G>T (p.Leu981=) n.617G>T c.3063G>T (p.Leu1021=) | gnomAD v4 |
15 | g.89631663C>G | CA492292510 | KIF7 | c.3066G>C (p.Leu1022=) c.2943G>C (p.Leu981=) n.617G>C c.3063G>C (p.Leu1021=) | |
15 | g.89631663C>T | CA492292508 | KIF7 | c.3066G>A (p.Leu1022=) c.2943G>A (p.Leu981=) n.617G>A c.3063G>A (p.Leu1021=) | gnomAD v4 |
15 | g.89631664A>C | CA393757404 | KIF7 | c.3065T>G (p.Leu1022Arg) c.2942T>G (p.Leu981Arg) n.616T>G c.3062T>G (p.Leu1021Arg) | |
15 | g.89631664A>G | CA393757406 | KIF7 | c.3065T>C (p.Leu1022Pro) c.2942T>C (p.Leu981Pro) n.616T>C c.3062T>C (p.Leu1021Pro) | gnomAD v4 |
15 | g.89631664A>T | CA393757408 | KIF7 | c.3065T>A (p.Leu1022Gln) c.2942T>A (p.Leu981Gln) n.616T>A c.3062T>A (p.Leu1021Gln) | |
15 | g.89631665G>A | CA492292511 | KIF7 | c.3064C>T (p.Leu1022=) c.2941C>T (p.Leu981=) n.615C>T c.3061C>T (p.Leu1021=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631665G>C | CA393757410 | KIF7 | c.3064C>G (p.Leu1022Val) c.2941C>G (p.Leu981Val) n.615C>G c.3061C>G (p.Leu1021Val) | |
15 | g.89631665G= | CA2194759845 | KIF7 | c.3064C= (p.Leu1022=) c.2941C= (p.Leu981=) n.615C= c.3061C= (p.Leu1021=) | |
15 | g.89631665G>T | CA393757412 | KIF7 | c.3064C>A (p.Leu1022Met) c.2941C>A (p.Leu981Met) n.615C>A c.3061C>A (p.Leu1021Met) | gnomAD v4 |
15 | g.89631666G>A | CA7727875 | KIF7 | c.3063C>T (p.His1021=) c.2940C>T (p.His980=) n.614C>T c.3060C>T (p.His1020=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631666G>C | CA393757415 | KIF7 | c.3063C>G (p.His1021Gln) c.2940C>G (p.His980Gln) n.614C>G c.3060C>G (p.His1020Gln) | |
15 | g.89631666G= | CA2194759852 | KIF7 | c.3063C= (p.His1021=) c.2940C= (p.His980=) n.614C= c.3060C= (p.His1020=) | |
15 | g.89631666G>T | CA393757417 | KIF7 | c.3063C>A (p.His1021Gln) c.2940C>A (p.His980Gln) n.614C>A c.3060C>A (p.His1020Gln) | |
15 | g.89631667T>A | CA393757420 | KIF7 | c.3062A>T (p.His1021Leu) c.2939A>T (p.His980Leu) n.613A>T c.3059A>T (p.His1020Leu) | |
15 | g.89631667T>C | CA393757421 | KIF7 | c.3062A>G (p.His1021Arg) c.2939A>G (p.His980Arg) n.613A>G c.3059A>G (p.His1020Arg) | |
15 | g.89631667T>G | CA393757423 | KIF7 | c.3062A>C (p.His1021Pro) c.2939A>C (p.His980Pro) n.613A>C c.3059A>C (p.His1020Pro) | |
15 | g.89631668G>A | CA393757429 | KIF7 | c.3061C>T (p.His1021Tyr) c.2938C>T (p.His980Tyr) n.612C>T c.3058C>T (p.His1020Tyr) | gnomAD v4 |
15 | g.89631668G>C | CA393757425 | KIF7 | c.3061C>G (p.His1021Asp) c.2938C>G (p.His980Asp) n.612C>G c.3058C>G (p.His1020Asp) | |
15 | g.89631668G>T | CA393757427 | KIF7 | c.3061C>A (p.His1021Asn) c.2938C>A (p.His980Asn) n.612C>A c.3058C>A (p.His1020Asn) | gnomAD v4 |
15 | g.89631669C>A | CA393757431 | KIF7 | c.3060G>T (p.Glu1020Asp) c.2937G>T (p.Glu979Asp) n.611G>T c.3057G>T (p.Glu1019Asp) | gnomAD v4 |
15 | g.89631669C>G | CA393757433 | KIF7 | c.3060G>C (p.Glu1020Asp) c.2937G>C (p.Glu979Asp) n.611G>C c.3057G>C (p.Glu1019Asp) | |
15 | g.89631669C>T | CA492292512 | KIF7 | c.3060G>A (p.Glu1020=) c.2937G>A (p.Glu979=) n.611G>A c.3057G>A (p.Glu1019=) | gnomAD v4 |
15 | g.89631670T>A | CA393757435 | KIF7 | c.3059A>T (p.Glu1020Val) c.2936A>T (p.Glu979Val) n.610A>T c.3056A>T (p.Glu1019Val) | gnomAD v4 |
15 | g.89631670T>C | CA393757437 | KIF7 | c.3059A>G (p.Glu1020Gly) c.2936A>G (p.Glu979Gly) n.610A>G c.3056A>G (p.Glu1019Gly) | gnomAD v4 |
15 | g.89631670T>G | CA393757439 | KIF7 | c.3059A>C (p.Glu1020Ala) c.2936A>C (p.Glu979Ala) n.610A>C c.3056A>C (p.Glu1019Ala) | |
15 | g.89631671C>A | CA393757441 | KIF7 | c.3058G>T (p.Glu1020Ter) c.2935G>T (p.Glu979Ter) n.609G>T c.3055G>T (p.Glu1019Ter) | gnomAD v4 |
15 | g.89631671C= | CA2194759859 | KIF7 | c.3058G= (p.Glu1020=) c.2935G= (p.Glu979=) n.609G= c.3055G= (p.Glu1019=) | |
15 | g.89631671C>G | CA393757442 | KIF7 | c.3058G>C (p.Glu1020Gln) c.2935G>C (p.Glu979Gln) n.609G>C c.3055G>C (p.Glu1019Gln) | |
15 | g.89631671C>T | CA7727876 | KIF7 | c.3058G>A (p.Glu1020Lys) c.2935G>A (p.Glu979Lys) n.609G>A c.3055G>A (p.Glu1019Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631672C>A | CA492292513 | KIF7 | c.3057G>T (p.Leu1019=) c.2934G>T (p.Leu978=) n.608G>T c.3054G>T (p.Leu1018=) | gnomAD v4 |
15 | g.89631672C= | CA2194759864 | KIF7 | c.3057G= (p.Leu1019=) c.2934G= (p.Leu978=) n.608G= c.3054G= (p.Leu1018=) | |
15 | g.89631672C>G | CA492292514 | KIF7 | c.3057G>C (p.Leu1019=) c.2934G>C (p.Leu978=) n.608G>C c.3054G>C (p.Leu1018=) | |
15 | g.89631672C>T | CA492292515 | KIF7 | c.3057G>A (p.Leu1019=) c.2934G>A (p.Leu978=) n.608G>A c.3054G>A (p.Leu1018=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631673A= | CA2194759867 | KIF7 | c.3056T= (p.Leu1019=) c.2933T= (p.Leu978=) n.607T= c.3053T= (p.Leu1018=) | |
15 | g.89631673A>C | CA393757445 | KIF7 | c.3056T>G (p.Leu1019Arg) c.2933T>G (p.Leu978Arg) n.607T>G c.3053T>G (p.Leu1018Arg) | |
15 | g.89631673A>G | CA393757446 | KIF7 | c.3056T>C (p.Leu1019Pro) c.2933T>C (p.Leu978Pro) n.607T>C c.3053T>C (p.Leu1018Pro) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631673A>T | CA393757448 | KIF7 | c.3056T>A (p.Leu1019Gln) c.2933T>A (p.Leu978Gln) n.607T>A c.3053T>A (p.Leu1018Gln) |