Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
15 | g.89631674G>A | CA492292516 | KIF7 | c.3055C>T (p.Leu1019=) c.2932C>T (p.Leu978=) n.606C>T c.3052C>T (p.Leu1018=) | dbSNP gnomAD v4 |
15 | g.89631674G>C | CA393757452 | KIF7 | c.3055C>G (p.Leu1019Val) c.2932C>G (p.Leu978Val) n.606C>G c.3052C>G (p.Leu1018Val) | |
15 | g.89631674G= | CA2194759872 | KIF7 | c.3055C= (p.Leu1019=) c.2932C= (p.Leu978=) n.606C= c.3052C= (p.Leu1018=) | |
15 | g.89631674G>T | CA393757450 | KIF7 | c.3055C>A (p.Leu1019Met) c.2932C>A (p.Leu978Met) n.606C>A c.3052C>A (p.Leu1018Met) | |
15 | g.89631675C>A | CA492292517 | KIF7 | c.3054G>T (p.Arg1018=) c.2931G>T (p.Arg977=) n.605G>T c.3051G>T (p.Arg1017=) | gnomAD v4 |
15 | g.89631675C>G | CA492292518 | KIF7 | c.3054G>C (p.Arg1018=) c.2931G>C (p.Arg977=) n.605G>C c.3051G>C (p.Arg1017=) | |
15 | g.89631675C>T | CA492292519 | KIF7 | c.3054G>A (p.Arg1018=) c.2931G>A (p.Arg977=) n.605G>A c.3051G>A (p.Arg1017=) | gnomAD v4 |
15 | g.89631676C>A | CA393757454 | KIF7 | c.3053G>T (p.Arg1018Leu) c.2930G>T (p.Arg977Leu) n.604G>T c.3050G>T (p.Arg1017Leu) | gnomAD v4 |
15 | g.89631676C= | CA2194759878 | KIF7 | c.3053G= (p.Arg1018=) c.2930G= (p.Arg977=) n.604G= c.3050G= (p.Arg1017=) | |
15 | g.89631676C>G | CA393757456 | KIF7 | c.3053G>C (p.Arg1018Pro) c.2930G>C (p.Arg977Pro) n.604G>C c.3050G>C (p.Arg1017Pro) | gnomAD v4 |
15 | g.89631676C>T | CA10603996 | KIF7 | c.3053G>A (p.Arg1018Gln) c.2930G>A (p.Arg977Gln) n.604G>A c.3050G>A (p.Arg1017Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631677G>A | CA7727877 | KIF7 | c.3052C>T (p.Arg1018Trp) c.2929C>T (p.Arg977Trp) n.603C>T c.3049C>T (p.Arg1017Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.89631677G>C | CA393757460 | KIF7 | c.3052C>G (p.Arg1018Gly) c.2929C>G (p.Arg977Gly) n.603C>G c.3049C>G (p.Arg1017Gly) | gnomAD v4 |
15 | g.89631677G= | CA2194759882 | KIF7 | c.3052C= (p.Arg1018=) c.2929C= (p.Arg977=) n.603C= c.3049C= (p.Arg1017=) | |
15 | g.89631677G>T | CA492292520 | KIF7 | c.3052C>A (p.Arg1018=) c.2929C>A (p.Arg977=) n.603C>A c.3049C>A (p.Arg1017=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.89631678G>A | CA492292521 | KIF7 | c.3051C>T (p.Ser1017=) c.2928C>T (p.Ser976=) n.602C>T c.3048C>T (p.Ser1016=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631678G>C | CA393757462 | KIF7 | c.3051C>G (p.Ser1017Arg) c.2928C>G (p.Ser976Arg) n.602C>G c.3048C>G (p.Ser1016Arg) | |
15 | g.89631678G= | CA2194759887 | KIF7 | c.3051C= (p.Ser1017=) c.2928C= (p.Ser976=) n.602C= c.3048C= (p.Ser1016=) | |
15 | g.89631678G>T | CA393757463 | KIF7 | c.3051C>A (p.Ser1017Arg) c.2928C>A (p.Ser976Arg) n.602C>A c.3048C>A (p.Ser1016Arg) | gnomAD v4 |
15 | g.89631679C>A | CA393757465 | KIF7 | c.3050G>T (p.Ser1017Ile) c.2927G>T (p.Ser976Ile) n.601G>T c.3047G>T (p.Ser1016Ile) | gnomAD v4 |
15 | g.89631679C= | CA2194759890 | KIF7 | c.3050G= (p.Ser1017=) c.2927G= (p.Ser976=) n.601G= c.3047G= (p.Ser1016=) | |
15 | g.89631679C>G | CA393757467 | KIF7 | c.3050G>C (p.Ser1017Thr) c.2927G>C (p.Ser976Thr) n.601G>C c.3047G>C (p.Ser1016Thr) | |
15 | g.89631679C>T | CA393757469 | KIF7 | c.3050G>A (p.Ser1017Asn) c.2927G>A (p.Ser976Asn) n.601G>A c.3047G>A (p.Ser1016Asn) | dbSNP gnomAD v4 |
15 | g.89631680T>A | CA393757471 | KIF7 | c.3049A>T (p.Ser1017Cys) c.2926A>T (p.Ser976Cys) n.600A>T c.3046A>T (p.Ser1016Cys) | gnomAD v4 |
15 | g.89631680T>C | CA393757473 | KIF7 | c.3049A>G (p.Ser1017Gly) c.2926A>G (p.Ser976Gly) n.600A>G c.3046A>G (p.Ser1016Gly) | |
15 | g.89631680T>G | CA393757475 | KIF7 | c.3049A>C (p.Ser1017Arg) c.2926A>C (p.Ser976Arg) n.600A>C c.3046A>C (p.Ser1016Arg) | |
15 | g.89631681G>A | CA492292522 | KIF7 | c.3048C>T (p.Ser1016=) c.2925C>T (p.Ser975=) n.599C>T c.3045C>T (p.Ser1015=) | gnomAD v4 |
15 | g.89631681G>C | CA492292523 | KIF7 | c.3048C>G (p.Ser1016=) c.2925C>G (p.Ser975=) n.599C>G c.3045C>G (p.Ser1015=) | |
15 | g.89631681G>T | CA492292524 | KIF7 | c.3048C>A (p.Ser1016=) c.2925C>A (p.Ser975=) n.599C>A c.3045C>A (p.Ser1015=) | gnomAD v4 |
15 | g.89631682G>A | CA7727878 | KIF7 | c.3047C>T (p.Ser1016Phe) c.2924C>T (p.Ser975Phe) n.598C>T c.3044C>T (p.Ser1015Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631682G>C | CA393757477 | KIF7 | c.3047C>G (p.Ser1016Cys) c.2924C>G (p.Ser975Cys) n.598C>G c.3044C>G (p.Ser1015Cys) | |
15 | g.89631682G= | CA2194759895 | KIF7 | c.3047C= (p.Ser1016=) c.2924C= (p.Ser975=) n.598C= c.3044C= (p.Ser1015=) | |
15 | g.89631682G>T | CA393757478 | KIF7 | c.3047C>A (p.Ser1016Tyr) c.2924C>A (p.Ser975Tyr) n.598C>A c.3044C>A (p.Ser1015Tyr) | |
15 | g.89631683A>C | CA393757481 | KIF7 | c.3046T>G (p.Ser1016Ala) c.2923T>G (p.Ser975Ala) n.597T>G c.3043T>G (p.Ser1015Ala) | |
15 | g.89631683A>G | CA393757486 | KIF7 | c.3046T>C (p.Ser1016Pro) c.2923T>C (p.Ser975Pro) n.597T>C c.3043T>C (p.Ser1015Pro) | ClinVar dbSNP COSMIC COSMIC |
15 | g.89631683A>T | CA393757488 | KIF7 | c.3046T>A (p.Ser1016Thr) c.2923T>A (p.Ser975Thr) n.597T>A c.3043T>A (p.Ser1015Thr) | gnomAD v4 |
15 | g.89631684C>A | CA492292525 | KIF7 | c.3045G>T (p.Val1015=) c.2922G>T (p.Val974=) n.596G>T c.3042G>T (p.Val1014=) | gnomAD v4 |
15 | g.89631684C>G | CA492292526 | KIF7 | c.3045G>C (p.Val1015=) c.2922G>C (p.Val974=) n.596G>C c.3042G>C (p.Val1014=) | gnomAD v4 |
15 | g.89631684C>T | CA492292527 | KIF7 | c.3045G>A (p.Val1015=) c.2922G>A (p.Val974=) n.596G>A c.3042G>A (p.Val1014=) | gnomAD v4 |
15 | g.89631685A= | CA2194759900 | KIF7 | c.3044T= (p.Val1015=) c.2921T= (p.Val974=) n.595T= c.3041T= (p.Val1014=) | |
15 | g.89631685A>C | CA393757490 | KIF7 | c.3044T>G (p.Val1015Gly) c.2921T>G (p.Val974Gly) n.595T>G c.3041T>G (p.Val1014Gly) | gnomAD v4 |
15 | g.89631685A>G | CA7727879 | KIF7 | c.3044T>C (p.Val1015Ala) c.2921T>C (p.Val974Ala) n.595T>C c.3041T>C (p.Val1014Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631685A>T | CA393757493 | KIF7 | c.3044T>A (p.Val1015Glu) c.2921T>A (p.Val974Glu) n.595T>A c.3041T>A (p.Val1014Glu) | |
15 | g.89631686C>A | CA393757495 | KIF7 | c.3043G>T (p.Val1015Leu) c.2920G>T (p.Val974Leu) n.594G>T c.3040G>T (p.Val1014Leu) | gnomAD v4 |
15 | g.89631686C= | CA2194759906 | KIF7 | c.3043G= (p.Val1015=) c.2920G= (p.Val974=) n.594G= c.3040G= (p.Val1014=) | |
15 | g.89631686C>G | CA393757497 | KIF7 | c.3043G>C (p.Val1015Leu) c.2920G>C (p.Val974Leu) n.594G>C c.3040G>C (p.Val1014Leu) | |
15 | g.89631686C>T | CA274566565 | KIF7 | c.3043G>A (p.Val1015Met) c.2920G>A (p.Val974Met) n.594G>A c.3040G>A (p.Val1014Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631687T>A | CA492292528 | KIF7 | c.3042A>T (p.Arg1014=) c.2919A>T (p.Arg973=) n.593A>T c.3039A>T (p.Arg1013=) | gnomAD v4 |
15 | g.89631687T>C | CA492292529 | KIF7 | c.3042A>G (p.Arg1014=) c.2919A>G (p.Arg973=) n.593A>G c.3039A>G (p.Arg1013=) | gnomAD v4 |
15 | g.89631687T>G | CA492292530 | KIF7 | c.3042A>C (p.Arg1014=) c.2919A>C (p.Arg973=) n.593A>C c.3039A>C (p.Arg1013=) | |
15 | g.89631688C>A | CA393757499 | KIF7 | c.3041G>T (p.Arg1014Leu) c.2918G>T (p.Arg973Leu) n.592G>T c.3038G>T (p.Arg1013Leu) | gnomAD v4 |
15 | g.89631688C= | CA2194759910 | KIF7 | c.3041G= (p.Arg1014=) c.2918G= (p.Arg973=) n.592G= c.3038G= (p.Arg1013=) | |
15 | g.89631688C>G | CA7727881 | KIF7 | c.3041G>C (p.Arg1014Pro) c.2918G>C (p.Arg973Pro) n.592G>C c.3038G>C (p.Arg1013Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631688C>T | CA7727880 | KIF7 | c.3041G>A (p.Arg1014Gln) c.2918G>A (p.Arg973Gln) n.592G>A c.3038G>A (p.Arg1013Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631689G>A | CA277751 | KIF7 | c.3040C>T (p.Arg1014Ter) c.2917C>T (p.Arg973Ter) n.591C>T c.3037C>T (p.Arg1013Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.89631689G>C | CA7727882 | KIF7 | c.3040C>G (p.Arg1014Gly) c.2917C>G (p.Arg973Gly) n.591C>G c.3037C>G (p.Arg1013Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631689G= | CA2194759919 | KIF7 | c.3040C= (p.Arg1014=) c.2917C= (p.Arg973=) n.591C= c.3037C= (p.Arg1013=) | |
15 | g.89631689G>T | CA492292531 | KIF7 | c.3040C>A (p.Arg1014=) c.2917C>A (p.Arg973=) n.591C>A c.3037C>A (p.Arg1013=) | gnomAD v4 |
15 | g.89631690C>A | CA492292532 | KIF7 | c.3039G>T (p.Val1013=) c.2916G>T (p.Val972=) n.590G>T c.3036G>T (p.Val1012=) | gnomAD v4 |
15 | g.89631690C= | CA2194759929 | KIF7 | c.3039G= (p.Val1013=) c.2916G= (p.Val972=) n.590G= c.3036G= (p.Val1012=) | |
15 | g.89631690C>G | CA492292533 | KIF7 | c.3039G>C (p.Val1013=) c.2916G>C (p.Val972=) n.590G>C c.3036G>C (p.Val1012=) | |
15 | g.89631690C>T | CA492292534 | KIF7 | c.3039G>A (p.Val1013=) c.2916G>A (p.Val972=) n.590G>A c.3036G>A (p.Val1012=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631690_89631691insCGGCTCA | CA2630274103 | KIF7 | c.3038_3039insTGAGCCG (p.Arg1014GlufsTer?) c.2915_2916insTGAGCCG (p.Arg973GlufsTer?) n.589_590insTGAGCCG c.3035_3036insTGAGCCG (p.Arg1013GlufsTer?) | gnomAD v4 |
15 | g.89631691A= | CA2194759932 | KIF7 | c.3038T= (p.Val1013=) c.2915T= (p.Val972=) n.589T= c.3035T= (p.Val1012=) | |
15 | g.89631691A>C | CA393757505 | KIF7 | c.3038T>G (p.Val1013Gly) c.2915T>G (p.Val972Gly) n.589T>G c.3035T>G (p.Val1012Gly) | dbSNP |
15 | g.89631691A>G | CA393757509 | KIF7 | c.3038T>C (p.Val1013Ala) c.2915T>C (p.Val972Ala) n.589T>C c.3035T>C (p.Val1012Ala) | gnomAD v4 |
15 | g.89631691A>T | CA393757506 | KIF7 | c.3038T>A (p.Val1013Glu) c.2915T>A (p.Val972Glu) n.589T>A c.3035T>A (p.Val1012Glu) | |
15 | g.89631692C>A | CA274566566 | KIF7 | c.3037G>T (p.Val1013Leu) c.2914G>T (p.Val972Leu) n.588G>T c.3034G>T (p.Val1012Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631692C= | CA2194759938 | KIF7 | c.3037G= (p.Val1013=) c.2914G= (p.Val972=) n.588G= c.3034G= (p.Val1012=) | |
15 | g.89631692C>G | CA274566578 | KIF7 | c.3037G>C (p.Val1013Leu) c.2914G>C (p.Val972Leu) n.588G>C c.3034G>C (p.Val1012Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631692C>T | CA7727883 | KIF7 | c.3037G>A (p.Val1013Met) c.2914G>A (p.Val972Met) n.588G>A c.3034G>A (p.Val1012Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631693G>A | CA274566583 | KIF7 | c.3036C>T (p.Ile1012=) c.2913C>T (p.Ile971=) n.587C>T c.3033C>T (p.Ile1011=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631693G>C | CA393757513 | KIF7 | c.3036C>G (p.Ile1012Met) c.2913C>G (p.Ile971Met) n.587C>G c.3033C>G (p.Ile1011Met) | gnomAD v4 |
15 | g.89631693G= | CA2194759944 | KIF7 | c.3036C= (p.Ile1012=) c.2913C= (p.Ile971=) n.587C= c.3033C= (p.Ile1011=) | |
15 | g.89631693G>T | CA492292535 | KIF7 | c.3036C>A (p.Ile1012=) c.2913C>A (p.Ile971=) n.587C>A c.3033C>A (p.Ile1011=) | gnomAD v4 |
15 | g.89631694A>C | CA393757515 | KIF7 | c.3035T>G (p.Ile1012Ser) c.2912T>G (p.Ile971Ser) n.586T>G c.3032T>G (p.Ile1011Ser) | |
15 | g.89631694A>G | CA393757516 | KIF7 | c.3035T>C (p.Ile1012Thr) c.2912T>C (p.Ile971Thr) n.586T>C c.3032T>C (p.Ile1011Thr) | |
15 | g.89631694A>T | CA393757519 | KIF7 | c.3035T>A (p.Ile1012Asn) c.2912T>A (p.Ile971Asn) n.586T>A c.3032T>A (p.Ile1011Asn) | |
15 | g.89631695T>A | CA393757521 | KIF7 | c.3034A>T (p.Ile1012Phe) c.2911A>T (p.Ile971Phe) n.585A>T c.3031A>T (p.Ile1011Phe) | gnomAD v4 |
15 | g.89631695T>C | CA274566584 | KIF7 | c.3034A>G (p.Ile1012Val) c.2911A>G (p.Ile971Val) n.585A>G c.3031A>G (p.Ile1011Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631695T>G | CA393757524 | KIF7 | c.3034A>C (p.Ile1012Leu) c.2911A>C (p.Ile971Leu) n.585A>C c.3031A>C (p.Ile1011Leu) | |
15 | g.89631695T= | CA2194759947 | KIF7 | c.3034A= (p.Ile1012=) c.2911A= (p.Ile971=) n.585A= c.3031A= (p.Ile1011=) | |
15 | g.89631696G>A | CA492292536 | KIF7 | c.3033C>T (p.Asp1011=) c.2910C>T (p.Asp970=) n.584C>T c.3030C>T (p.Asp1010=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631696G>C | CA393757526 | KIF7 | c.3033C>G (p.Asp1011Glu) c.2910C>G (p.Asp970Glu) n.584C>G c.3030C>G (p.Asp1010Glu) | |
15 | g.89631696G= | CA2194759952 | KIF7 | c.3033C= (p.Asp1011=) c.2910C= (p.Asp970=) n.584C= c.3030C= (p.Asp1010=) | |
15 | g.89631696G>T | CA393757528 | KIF7 | c.3033C>A (p.Asp1011Glu) c.2910C>A (p.Asp970Glu) n.584C>A c.3030C>A (p.Asp1010Glu) | gnomAD v4 |
15 | g.89631697T>A | CA393757535 | KIF7 | c.3032A>T (p.Asp1011Val) c.2909A>T (p.Asp970Val) n.583A>T c.3029A>T (p.Asp1010Val) | |
15 | g.89631697T>C | CA393757531 | KIF7 | c.3032A>G (p.Asp1011Gly) c.2909A>G (p.Asp970Gly) n.583A>G c.3029A>G (p.Asp1010Gly) | |
15 | g.89631697T>G | CA393757532 | KIF7 | c.3032A>C (p.Asp1011Ala) c.2909A>C (p.Asp970Ala) n.583A>C c.3029A>C (p.Asp1010Ala) | |
15 | g.89631698C>A | CA393757536 | KIF7 | c.3031G>T (p.Asp1011Tyr) c.2908G>T (p.Asp970Tyr) n.582G>T c.3028G>T (p.Asp1010Tyr) | gnomAD v4 |
15 | g.89631698C>G | CA393757538 | KIF7 | c.3031G>C (p.Asp1011His) c.2908G>C (p.Asp970His) n.582G>C c.3028G>C (p.Asp1010His) | |
15 | g.89631698C>T | CA393757540 | KIF7 | c.3031G>A (p.Asp1011Asn) c.2908G>A (p.Asp970Asn) n.582G>A c.3028G>A (p.Asp1010Asn) | gnomAD v4 |
15 | g.89631699C>A | CA393757543 | KIF7 | c.3030G>T (p.Glu1010Asp) c.2907G>T (p.Glu969Asp) n.581G>T c.3027G>T (p.Glu1009Asp) | gnomAD v4 |
15 | g.89631699C= | CA2194759957 | KIF7 | c.3030G= (p.Glu1010=) c.2907G= (p.Glu969=) n.581G= c.3027G= (p.Glu1009=) | |
15 | g.89631699C>G | CA205279 | KIF7 | c.3030G>C (p.Glu1010Asp) c.2907G>C (p.Glu969Asp) n.581G>C c.3027G>C (p.Glu1009Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631699C>T | CA492292537 | KIF7 | c.3030G>A (p.Glu1010=) c.2907G>A (p.Glu969=) n.581G>A c.3027G>A (p.Glu1009=) | gnomAD v4 |
15 | g.89631700T>A | CA393757546 | KIF7 | c.3029A>T (p.Glu1010Val) c.2906A>T (p.Glu969Val) n.580A>T c.3026A>T (p.Glu1009Val) | |
15 | g.89631700T>C | CA393757548 | KIF7 | c.3029A>G (p.Glu1010Gly) c.2906A>G (p.Glu969Gly) n.580A>G c.3026A>G (p.Glu1009Gly) | gnomAD v4 |
15 | g.89631700T>G | CA393757550 | KIF7 | c.3029A>C (p.Glu1010Ala) c.2906A>C (p.Glu969Ala) n.580A>C c.3026A>C (p.Glu1009Ala) | |
15 | g.89631701C>A | CA393757551 | KIF7 | c.3028G>T (p.Glu1010Ter) c.2905G>T (p.Glu969Ter) n.579G>T c.3025G>T (p.Glu1009Ter) | gnomAD v4 |
15 | g.89631701C= | CA2194759963 | KIF7 | c.3028G= (p.Glu1010=) c.2905G= (p.Glu969=) n.579G= c.3025G= (p.Glu1009=) | |
15 | g.89631701C>G | CA393757552 | KIF7 | c.3028G>C (p.Glu1010Gln) c.2905G>C (p.Glu969Gln) n.579G>C c.3025G>C (p.Glu1009Gln) | gnomAD v4 |
15 | g.89631701C>T | CA393757554 | KIF7 | c.3028G>A (p.Glu1010Lys) c.2905G>A (p.Glu969Lys) n.579G>A c.3025G>A (p.Glu1009Lys) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631702del | CA2839437735 | KIF7 | c.3027del (p.Asn1009LysfsTer?) c.2904del (p.Asn968LysfsTer?) n.578del c.3024del (p.Asn1008LysfsTer?) | |
15 | g.89631702G>A | CA7727884 | KIF7 | c.3027C>T (p.Asn1009=) c.2904C>T (p.Asn968=) n.578C>T c.3024C>T (p.Asn1008=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631702G>C | CA393757560 | KIF7 | c.3027C>G (p.Asn1009Lys) c.2904C>G (p.Asn968Lys) n.578C>G c.3024C>G (p.Asn1008Lys) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631702G= | CA2194759968 | KIF7 | c.3027C= (p.Asn1009=) c.2904C= (p.Asn968=) n.578C= c.3024C= (p.Asn1008=) | |
15 | g.89631702G>T | CA393757557 | KIF7 | c.3027C>A (p.Asn1009Lys) c.2904C>A (p.Asn968Lys) n.578C>A c.3024C>A (p.Asn1008Lys) | gnomAD v4 |
15 | g.89631703_89631705del | CA2630274140 | KIF7 | c.3025_3027del (p.Asn1009del) c.2902_2904del (p.Asn968del) n.576_578del c.3022_3024del (p.Asn1008del) | gnomAD v4 |
15 | g.89631703T>A | CA393757562 | KIF7 | c.3026A>T (p.Asn1009Ile) c.2903A>T (p.Asn968Ile) n.577A>T c.3023A>T (p.Asn1008Ile) | |
15 | g.89631703T>C | CA393757563 | KIF7 | c.3026A>G (p.Asn1009Ser) c.2903A>G (p.Asn968Ser) n.577A>G c.3023A>G (p.Asn1008Ser) | |
15 | g.89631703T>G | CA393757565 | KIF7 | c.3026A>C (p.Asn1009Thr) c.2903A>C (p.Asn968Thr) n.577A>C c.3023A>C (p.Asn1008Thr) | |
15 | g.89631704T>A | CA393757567 | KIF7 | c.3025A>T (p.Asn1009Tyr) c.2902A>T (p.Asn968Tyr) n.576A>T c.3022A>T (p.Asn1008Tyr) | |
15 | g.89631704T>C | CA393757568 | KIF7 | c.3025A>G (p.Asn1009Asp) c.2902A>G (p.Asn968Asp) n.576A>G c.3022A>G (p.Asn1008Asp) | gnomAD v4 |
15 | g.89631704T>G | CA393757570 | KIF7 | c.3025A>C (p.Asn1009His) c.2902A>C (p.Asn968His) n.576A>C c.3022A>C (p.Asn1008His) | |
15 | g.89631705G>A | CA492292538 | KIF7 | c.3024C>T (p.Leu1008=) c.2901C>T (p.Leu967=) n.575C>T c.3021C>T (p.Leu1007=) | gnomAD v4 |
15 | g.89631705G>C | CA492292540 | KIF7 | c.3024C>G (p.Leu1008=) c.2901C>G (p.Leu967=) n.575C>G c.3021C>G (p.Leu1007=) | |
15 | g.89631705G>T | CA492292539 | KIF7 | c.3024C>A (p.Leu1008=) c.2901C>A (p.Leu967=) n.575C>A c.3021C>A (p.Leu1007=) | gnomAD v4 |
15 | g.89631706del | CA2630274145 | KIF7 | c.3023del (p.Leu1008ProfsTer?) c.2900del (p.Leu967ProfsTer?) n.574del c.3020del (p.Leu1007ProfsTer?) | gnomAD v4 |
15 | g.89631706A>C | CA393757572 | KIF7 | c.3023T>G (p.Leu1008Arg) c.2900T>G (p.Leu967Arg) n.574T>G c.3020T>G (p.Leu1007Arg) | |
15 | g.89631706A>G | CA393757573 | KIF7 | c.3023T>C (p.Leu1008Pro) c.2900T>C (p.Leu967Pro) n.574T>C c.3020T>C (p.Leu1007Pro) | gnomAD v4 |
15 | g.89631706A>T | CA393757575 | KIF7 | c.3023T>A (p.Leu1008His) c.2900T>A (p.Leu967His) n.574T>A c.3020T>A (p.Leu1007His) | gnomAD v4 |
15 | g.89631707G>A | CA7727885 | KIF7 | c.3022C>T (p.Leu1008Phe) c.2899C>T (p.Leu967Phe) n.573C>T c.3019C>T (p.Leu1007Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631707G>C | CA393757577 | KIF7 | c.3022C>G (p.Leu1008Val) c.2899C>G (p.Leu967Val) n.573C>G c.3019C>G (p.Leu1007Val) | dbSNP gnomAD v4 |
15 | g.89631707G= | CA2194759972 | KIF7 | c.3022C= (p.Leu1008=) c.2899C= (p.Leu967=) n.573C= c.3019C= (p.Leu1007=) | |
15 | g.89631707G>T | CA393757580 | KIF7 | c.3022C>A (p.Leu1008Ile) c.2899C>A (p.Leu967Ile) n.573C>A c.3019C>A (p.Leu1007Ile) | gnomAD v4 |
15 | g.89631709del | CA2630274146 | KIF7 | c.3022del (p.Leu1008SerfsTer?) c.2899del (p.Leu967SerfsTer?) n.573del c.3019del (p.Leu1007SerfsTer?) | gnomAD v4 |
15 | g.89631708G>A | CA492292541 | KIF7 | c.3021C>T (p.Ala1007=) c.2898C>T (p.Ala966=) n.572C>T c.3018C>T (p.Ala1006=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631708G>C | CA492292542 | KIF7 | c.3021C>G (p.Ala1007=) c.2898C>G (p.Ala966=) n.572C>G c.3018C>G (p.Ala1006=) | |
15 | g.89631708G= | CA2194759975 | KIF7 | c.3021C= (p.Ala1007=) c.2898C= (p.Ala966=) n.572C= c.3018C= (p.Ala1006=) | |
15 | g.89631708G>T | CA492292543 | KIF7 | c.3021C>A (p.Ala1007=) c.2898C>A (p.Ala966=) n.572C>A c.3018C>A (p.Ala1006=) | |
15 | g.89631708_89631710delinsGGC | CA2194759974 | KIF7 | c.3019_3021delinsGCC (p.Ala1007=) c.2896_2898delinsGCC (p.Ala966=) n.570_572delinsGCC c.3016_3018delinsGCC (p.Ala1006=) | |
15 | g.89631709G>A | CA10603885 | KIF7 | c.3020C>T (p.Ala1007Val) c.2897C>T (p.Ala966Val) n.571C>T c.3017C>T (p.Ala1006Val) | ClinVar dbSNP gnomAD v4 |
15 | g.89631709G>C | CA393757591 | KIF7 | c.3020C>G (p.Ala1007Gly) c.2897C>G (p.Ala966Gly) n.571C>G c.3017C>G (p.Ala1006Gly) | dbSNP |
15 | g.89631709G= | CA2194759983 | KIF7 | c.3020C= (p.Ala1007=) c.2897C= (p.Ala966=) n.571C= c.3017C= (p.Ala1006=) | |
15 | g.89631709G>T | CA393757583 | KIF7 | c.3020C>A (p.Ala1007Asp) c.2897C>A (p.Ala966Asp) n.571C>A c.3017C>A (p.Ala1006Asp) | gnomAD v4 |
15 | g.89631709_89631710del | CA129522 | KIF7 | c.3019_3020del (p.Ala1007ProfsTer?) c.2896_2897del (p.Ala966ProfsTer?) n.570_571del c.3016_3017del (p.Ala1006ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631710C>A | CA393757593 | KIF7 | c.3019G>T (p.Ala1007Ser) c.2896G>T (p.Ala966Ser) n.570G>T c.3016G>T (p.Ala1006Ser) | gnomAD v4 |
15 | g.89631710C>G | CA393757595 | KIF7 | c.3019G>C (p.Ala1007Pro) c.2896G>C (p.Ala966Pro) n.570G>C c.3016G>C (p.Ala1006Pro) | |
15 | g.89631710C>T | CA393757596 | KIF7 | c.3019G>A (p.Ala1007Thr) c.2896G>A (p.Ala966Thr) n.570G>A c.3016G>A (p.Ala1006Thr) | gnomAD v4 |
15 | g.89631711C>A | CA393757601 | KIF7 | c.3019-1G>T (n.3019-1G>T) c.2896-1G>T (n.2896-1G>T) n.570-1G>T c.3016-1G>T (n.3016-1G>T) | gnomAD v4 |
15 | g.89631711C= | CA2194759990 | KIF7 | c.3019-1G= (n.3019-1G=) c.2896-1G= (n.2896-1G=) n.570-1G= c.3016-1G= (n.3016-1G=) | |
15 | g.89631711C>G | CA393757604 | KIF7 | c.3019-1G>C (n.3019-1G>C) c.2896-1G>C (n.2896-1G>C) n.570-1G>C c.3016-1G>C (n.3016-1G>C) | |
15 | g.89631711C>T | CA393757605 | KIF7 | c.3019-1G>A (n.3019-1G>A) c.2896-1G>A (n.2896-1G>A) n.570-1G>A c.3016-1G>A (n.3016-1G>A) | dbSNP gnomAD v4 |
15 | g.89631712T>A | CA393757611 | KIF7 | c.3019-2A>T (n.3019-2A>T) c.2896-2A>T (n.2896-2A>T) n.570-2A>T c.3016-2A>T (n.3016-2A>T) | |
15 | g.89631712T>C | CA393757616 | KIF7 | c.3019-2A>G (n.3019-2A>G) c.2896-2A>G (n.2896-2A>G) n.570-2A>G c.3016-2A>G (n.3016-2A>G) | gnomAD v4 |
15 | g.89631712T>G | CA393757614 | KIF7 | c.3019-2A>C (n.3019-2A>C) c.2896-2A>C (n.2896-2A>C) n.570-2A>C c.3016-2A>C (n.3016-2A>C) | |
15 | g.89631712_89631713delinsTG | CA2194759993 | KIF7 | c.3019-3_3019-2delinsCA (n.3019-3_3019-2delinsCA) c.2896-3_2896-2delinsCA (n.2896-3_2896-2delinsCA) n.570-3_570-2delinsCA c.3016-3_3016-2delinsCA (n.3016-3_3016-2delinsCA) | |
15 | g.89631713G>A | CA7727887 | KIF7 | c.3019-3C>T (n.3019-3C>T) c.2896-3C>T (n.2896-3C>T) n.570-3C>T c.3016-3C>T (n.3016-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631713G= | CA2194760001 | KIF7 | c.3019-3C= (n.3019-3C=) c.2896-3C= (n.2896-3C=) n.570-3C= c.3016-3C= (n.3016-3C=) | |
15 | g.89631713G>T | CA2630274162 | KIF7 | c.3019-3C>A (n.3019-3C>A) c.2896-3C>A (n.2896-3C>A) n.570-3C>A c.3016-3C>A (n.3016-3C>A) | gnomAD v4 |
15 | g.89631717dup | CA619858275 | KIF7 | c.3019-3dup (n.3019-3dup) c.2896-3dup (n.2896-3dup) n.570-3dup c.3016-3dup (n.3016-3dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631717del | CA7727886 | KIF7 | c.3019-3del (n.3019-3del) c.2896-3del (n.2896-3del) n.570-3del c.3016-3del (n.3016-3del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631716_89631717del | CA2630274164 | KIF7 | c.3019-4_3019-3del (n.3019-4_3019-3del) c.2896-4_2896-3del (n.2896-4_2896-3del) n.570-4_570-3del c.3016-4_3016-3del (n.3016-4_3016-3del) | gnomAD v4 |
15 | g.89631714G>A | CA619858276 | KIF7 | c.3019-4C>T (n.3019-4C>T) c.2896-4C>T (n.2896-4C>T) n.570-4C>T c.3016-4C>T (n.3016-4C>T) | ClinVar dbSNP gnomAD v2 |
15 | g.89631714G>C | CA2630274167 | KIF7 | c.3019-4C>G (n.3019-4C>G) c.2896-4C>G (n.2896-4C>G) n.570-4C>G c.3016-4C>G (n.3016-4C>G) | gnomAD v4 |
15 | g.89631714G= | CA2194760006 | KIF7 | c.3019-4C= (n.3019-4C=) c.2896-4C= (n.2896-4C=) n.570-4C= c.3016-4C= (n.3016-4C=) | |
15 | g.89631714G>T | CA2575829930 | KIF7 | c.3019-4C>A (n.3019-4C>A) c.2896-4C>A (n.2896-4C>A) n.570-4C>A c.3016-4C>A (n.3016-4C>A) | gnomAD v4 |
15 | g.89631715G>A | CA7727888 | KIF7 | c.3019-5C>T (n.3019-5C>T) c.2896-5C>T (n.2896-5C>T) n.570-5C>T c.3016-5C>T (n.3016-5C>T) | dbSNP ExAC gnomAD v2 |
15 | g.89631715G>C | CA2630274169 | KIF7 | c.3019-5C>G (n.3019-5C>G) c.2896-5C>G (n.2896-5C>G) n.570-5C>G c.3016-5C>G (n.3016-5C>G) | gnomAD v4 |
15 | g.89631715G= | CA2194760010 | KIF7 | c.3019-5C= (n.3019-5C=) c.2896-5C= (n.2896-5C=) n.570-5C= c.3016-5C= (n.3016-5C=) | |
15 | g.89631715G>T | CA2630274170 | KIF7 | c.3019-5C>A (n.3019-5C>A) c.2896-5C>A (n.2896-5C>A) n.570-5C>A c.3016-5C>A (n.3016-5C>A) | gnomAD v4 |
15 | g.89631716G>A | CA2805177541 | KIF7 | c.3019-6C>T (n.3019-6C>T) c.2896-6C>T (n.2896-6C>T) n.570-6C>T c.3016-6C>T (n.3016-6C>T) | |
15 | g.89631716G>T | CA2630274173 | KIF7 | c.3019-6C>A (n.3019-6C>A) c.2896-6C>A (n.2896-6C>A) n.570-6C>A c.3016-6C>A (n.3016-6C>A) | gnomAD v4 |
15 | g.89631717G>A | CA7727889 | KIF7 | c.3019-7C>T (n.3019-7C>T) c.2896-7C>T (n.2896-7C>T) n.570-7C>T c.3016-7C>T (n.3016-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631717G>C | CA274566617 | KIF7 | c.3019-7C>G (n.3019-7C>G) c.2896-7C>G (n.2896-7C>G) n.570-7C>G c.3016-7C>G (n.3016-7C>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631717G= | CA2194760017 | KIF7 | c.3019-7C= (n.3019-7C=) c.2896-7C= (n.2896-7C=) n.570-7C= c.3016-7C= (n.3016-7C=) | |
15 | g.89631717G>T | CA2630274176 | KIF7 | c.3019-7C>A (n.3019-7C>A) c.2896-7C>A (n.2896-7C>A) n.570-7C>A c.3016-7C>A (n.3016-7C>A) | gnomAD v4 |
15 | g.89631718C>A | CA2630274177 | KIF7 | c.3019-8G>T (n.3019-8G>T) c.2896-8G>T (n.2896-8G>T) n.570-8G>T c.3016-8G>T (n.3016-8G>T) | gnomAD v4 |
15 | g.89631718C>T | CA2630274178 | KIF7 | c.3019-8G>A (n.3019-8G>A) c.2896-8G>A (n.2896-8G>A) n.570-8G>A c.3016-8G>A (n.3016-8G>A) | ClinVar gnomAD v4 |
15 | g.89631719A= | CA2194760019 | KIF7 | c.3019-9T= (n.3019-9T=) c.2896-9T= (n.2896-9T=) n.570-9T= c.3016-9T= (n.3016-9T=) | |
15 | g.89631719A>G | CA7727890 | KIF7 | c.3019-9T>C (n.3019-9T>C) c.2896-9T>C (n.2896-9T>C) n.570-9T>C c.3016-9T>C (n.3016-9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631720G>C | CA2580090217 | KIF7 | c.3019-10C>G (n.3019-10C>G) c.2896-10C>G (n.2896-10C>G) n.570-10C>G c.3016-10C>G (n.3016-10C>G) | ClinVar gnomAD v4 |
15 | g.89631720G>T | CA2630274181 | KIF7 | c.3019-10C>A (n.3019-10C>A) c.2896-10C>A (n.2896-10C>A) n.570-10C>A c.3016-10C>A (n.3016-10C>A) | gnomAD v4 |
15 | g.89631721A>G | CA2630274182 | KIF7 | c.3019-11T>C (n.3019-11T>C) c.2896-11T>C (n.2896-11T>C) n.570-11T>C c.3016-11T>C (n.3016-11T>C) | gnomAD v4 |
15 | g.89631722A>G | CA2630274183 | KIF7 | c.3019-12T>C (n.3019-12T>C) c.2896-12T>C (n.2896-12T>C) n.570-12T>C c.3016-12T>C (n.3016-12T>C) | gnomAD v4 |
15 | g.89631723T>A | CA2630274186 | KIF7 | c.3019-13A>T (n.3019-13A>T) c.2896-13A>T (n.2896-13A>T) n.570-13A>T c.3016-13A>T (n.3016-13A>T) | gnomAD v4 |
15 | g.89631723T>C | CA2194760023 | KIF7 | c.3019-13A>G (n.3019-13A>G) c.2896-13A>G (n.2896-13A>G) n.570-13A>G c.3016-13A>G (n.3016-13A>G) | dbSNP |
15 | g.89631723T= | CA2194760021 | KIF7 | c.3019-13A= (n.3019-13A=) c.2896-13A= (n.2896-13A=) n.570-13A= c.3016-13A= (n.3016-13A=) | |
15 | g.89631723_89631724delinsGT | CA2580090218 | KIF7 | c.3019-14_3019-13delinsAC (n.3019-14_3019-13delinsAC) c.2896-14_2896-13delinsAC (n.2896-14_2896-13delinsAC) n.570-14_570-13delinsAC c.3016-14_3016-13delinsAC (n.3016-14_3016-13delinsAC) | ClinVar |
15 | g.89631724del | CA2838589921 | KIF7 | c.3019-14del (n.3019-14del) c.2896-14del (n.2896-14del) n.570-14del c.3016-14del (n.3016-14del) | |
15 | g.89631724C>A | CA2581198558 | KIF7 | c.3019-14G>T (n.3019-14G>T) c.2896-14G>T (n.2896-14G>T) n.570-14G>T c.3016-14G>T (n.3016-14G>T) | gnomAD v4 |
15 | g.89631724C= | CA2194760025 | KIF7 | c.3019-14G= (n.3019-14G=) c.2896-14G= (n.2896-14G=) n.570-14G= c.3016-14G= (n.3016-14G=) | |
15 | g.89631724C>G | CA2581198557 | KIF7 | c.3019-14G>C (n.3019-14G>C) c.2896-14G>C (n.2896-14G>C) n.570-14G>C c.3016-14G>C (n.3016-14G>C) | |
15 | g.89631724C>T | CA020301 | KIF7 | c.3019-14G>A (n.3019-14G>A) c.2896-14G>A (n.2896-14G>A) n.570-14G>A c.3016-14G>A (n.3016-14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631725A= | CA2194760028 | KIF7 | c.3019-15T= (n.3019-15T=) c.2896-15T= (n.2896-15T=) n.570-15T= c.3016-15T= (n.3016-15T=) | |
15 | g.89631725A>G | CA619858277 | KIF7 | c.3019-15T>C (n.3019-15T>C) c.2896-15T>C (n.2896-15T>C) n.570-15T>C c.3016-15T>C (n.3016-15T>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631725A>T | CA2630274194 | KIF7 | c.3019-15T>A (n.3019-15T>A) c.2896-15T>A (n.2896-15T>A) n.570-15T>A c.3016-15T>A (n.3016-15T>A) | gnomAD v4 |
15 | g.89631726C>A | CA2630274196 | KIF7 | c.3019-16G>T (n.3019-16G>T) c.2896-16G>T (n.2896-16G>T) n.570-16G>T c.3016-16G>T (n.3016-16G>T) | gnomAD v4 |
15 | g.89631726C= | CA2194760029 | KIF7 | c.3019-16G= (n.3019-16G=) c.2896-16G= (n.2896-16G=) n.570-16G= c.3016-16G= (n.3016-16G=) | |
15 | g.89631726C>G | CA619858278 | KIF7 | c.3019-16G>C (n.3019-16G>C) c.2896-16G>C (n.2896-16G>C) n.570-16G>C c.3016-16G>C (n.3016-16G>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631726C>T | CA2630274197 | KIF7 | c.3019-16G>A (n.3019-16G>A) c.2896-16G>A (n.2896-16G>A) n.570-16G>A c.3016-16G>A (n.3016-16G>A) | gnomAD v4 |
15 | g.89631727del | CA2630274195 | KIF7 | c.3019-16del (n.3019-16del) c.2896-16del (n.2896-16del) n.570-16del c.3016-16del (n.3016-16del) | gnomAD v4 |
15 | g.89631727C>A | CA2630274199 | KIF7 | c.3019-17G>T (n.3019-17G>T) c.2896-17G>T (n.2896-17G>T) n.570-17G>T c.3016-17G>T (n.3016-17G>T) | gnomAD v4 |
15 | g.89631727C= | CA2194760030 | KIF7 | c.3019-17G= (n.3019-17G=) c.2896-17G= (n.2896-17G=) n.570-17G= c.3016-17G= (n.3016-17G=) | |
15 | g.89631727C>T | CA274566621 | KIF7 | c.3019-17G>A (n.3019-17G>A) c.2896-17G>A (n.2896-17G>A) n.570-17G>A c.3016-17G>A (n.3016-17G>A) | ClinVar dbSNP gnomAD v4 |
15 | g.89631727_89631728del | CA2843446757 | KIF7 | c.3019-18_3019-17del (n.3019-18_3019-17del) c.2896-18_2896-17del (n.2896-18_2896-17del) n.570-18_570-17del c.3016-18_3016-17del (n.3016-18_3016-17del) | |
15 | g.89631728A= | CA2194760032 | KIF7 | c.3019-18T= (n.3019-18T=) c.2896-18T= (n.2896-18T=) n.570-18T= c.3016-18T= (n.3016-18T=) | |
15 | g.89631728A>G | CA2630274200 | KIF7 | c.3019-18T>C (n.3019-18T>C) c.2896-18T>C (n.2896-18T>C) n.570-18T>C c.3016-18T>C (n.3016-18T>C) | gnomAD v4 |
15 | g.89631728A>T | CA7727891 | KIF7 | c.3019-18T>A (n.3019-18T>A) c.2896-18T>A (n.2896-18T>A) n.570-18T>A c.3016-18T>A (n.3016-18T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631729G>A | CA7727892 | KIF7 | c.3019-19C>T (n.3019-19C>T) c.2896-19C>T (n.2896-19C>T) n.570-19C>T c.3016-19C>T (n.3016-19C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631729G>C | CA972616204 | KIF7 | c.3019-19C>G (n.3019-19C>G) c.2896-19C>G (n.2896-19C>G) n.570-19C>G c.3016-19C>G (n.3016-19C>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631729G= | CA2194760034 | KIF7 | c.3019-19C= (n.3019-19C=) c.2896-19C= (n.2896-19C=) n.570-19C= c.3016-19C= (n.3016-19C=) | |
15 | g.89631729G>T | CA2597978689 | KIF7 | c.3019-19C>A (n.3019-19C>A) c.2896-19C>A (n.2896-19C>A) n.570-19C>A c.3016-19C>A (n.3016-19C>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631730G>A | CA619858279 | KIF7 | c.3019-20C>T (n.3019-20C>T) c.2896-20C>T (n.2896-20C>T) n.570-20C>T c.3016-20C>T (n.3016-20C>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631730G= | CA2194760036 | KIF7 | c.3019-20C= (n.3019-20C=) c.2896-20C= (n.2896-20C=) n.570-20C= c.3016-20C= (n.3016-20C=) | |
15 | g.89631730G>T | CA2630274205 | KIF7 | c.3019-20C>A (n.3019-20C>A) c.2896-20C>A (n.2896-20C>A) n.570-20C>A c.3016-20C>A (n.3016-20C>A) | gnomAD v4 |
15 | g.89631731G>A | CA619858280 | KIF7 | c.3019-21C>T (n.3019-21C>T) c.2896-21C>T (n.2896-21C>T) n.570-21C>T c.3016-21C>T (n.3016-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631731G>C | CA2575829931 | KIF7 | c.3019-21C>G (n.3019-21C>G) c.2896-21C>G (n.2896-21C>G) n.570-21C>G c.3016-21C>G (n.3016-21C>G) | |
15 | g.89631731G= | CA2194760039 | KIF7 | c.3019-21C= (n.3019-21C=) c.2896-21C= (n.2896-21C=) n.570-21C= c.3016-21C= (n.3016-21C=) | |
15 | g.89631731G>T | CA2630274208 | KIF7 | c.3019-21C>A (n.3019-21C>A) c.2896-21C>A (n.2896-21C>A) n.570-21C>A c.3016-21C>A (n.3016-21C>A) | gnomAD v4 |
15 | g.89631732A>T | CA2836597150 | KIF7 | c.3019-22T>A (n.3019-22T>A) c.2896-22T>A (n.2896-22T>A) n.570-22T>A c.3016-22T>A (n.3016-22T>A) | |
15 | g.89631733T>C | CA619858281 | KIF7 | c.3019-23A>G (n.3019-23A>G) c.2896-23A>G (n.2896-23A>G) n.570-23A>G c.3016-23A>G (n.3016-23A>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631733T>G | CA2630274212 | KIF7 | c.3019-23A>C (n.3019-23A>C) c.2896-23A>C (n.2896-23A>C) n.570-23A>C c.3016-23A>C (n.3016-23A>C) | gnomAD v4 |
15 | g.89631733T= | CA2194760043 | KIF7 | c.3019-23A= (n.3019-23A=) c.2896-23A= (n.2896-23A=) n.570-23A= c.3016-23A= (n.3016-23A=) | |
15 | g.89631734del | CA2630274211 | KIF7 | c.3019-23del (n.3019-23del) c.2896-23del (n.2896-23del) n.570-23del c.3016-23del (n.3016-23del) | gnomAD v4 |
15 | g.89631734T>C | CA2630274213 | KIF7 | c.3019-24A>G (n.3019-24A>G) c.2896-24A>G (n.2896-24A>G) n.570-24A>G c.3016-24A>G (n.3016-24A>G) | gnomAD v4 |
15 | g.89631734T>G | CA7727893 | KIF7 | c.3019-24A>C (n.3019-24A>C) c.2896-24A>C (n.2896-24A>C) n.570-24A>C c.3016-24A>C (n.3016-24A>C) | dbSNP ExAC gnomAD v4 |
15 | g.89631734T= | CA2194760045 | KIF7 | c.3019-24A= (n.3019-24A=) c.2896-24A= (n.2896-24A=) n.570-24A= c.3016-24A= (n.3016-24A=) | |
15 | g.89631735A>G | CA2630274214 | KIF7 | c.3019-25T>C (n.3019-25T>C) c.2896-25T>C (n.2896-25T>C) n.570-25T>C c.3016-25T>C (n.3016-25T>C) | gnomAD v4 |
15 | g.89631736G>A | CA2630274215 | KIF7 | c.3019-26C>T (n.3019-26C>T) c.2896-26C>T (n.2896-26C>T) n.570-26C>T c.3016-26C>T (n.3016-26C>T) | gnomAD v4 |
15 | g.89631736G>C | CA7727894 | KIF7 | c.3019-26C>G (n.3019-26C>G) c.2896-26C>G (n.2896-26C>G) n.570-26C>G c.3016-26C>G (n.3016-26C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631736G= | CA2194760047 | KIF7 | c.3019-26C= (n.3019-26C=) c.2896-26C= (n.2896-26C=) n.570-26C= c.3016-26C= (n.3016-26C=) | |
15 | g.89631736G>T | CA2630274216 | KIF7 | c.3019-26C>A (n.3019-26C>A) c.2896-26C>A (n.2896-26C>A) n.570-26C>A c.3016-26C>A (n.3016-26C>A) | gnomAD v4 |
15 | g.89631737A>G | CA2630274218 | KIF7 | c.3019-27T>C (n.3019-27T>C) c.2896-27T>C (n.2896-27T>C) n.570-27T>C c.3016-27T>C (n.3016-27T>C) | gnomAD v4 |
15 | g.89631738G>A | CA619858282 | KIF7 | c.3019-28C>T (n.3019-28C>T) c.2896-28C>T (n.2896-28C>T) n.570-28C>T c.3016-28C>T (n.3016-28C>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631738G= | CA2194760050 | KIF7 | c.3019-28C= (n.3019-28C=) c.2896-28C= (n.2896-28C=) n.570-28C= c.3016-28C= (n.3016-28C=) | |
15 | g.89631738G>T | CA2630274219 | KIF7 | c.3019-28C>A (n.3019-28C>A) c.2896-28C>A (n.2896-28C>A) n.570-28C>A c.3016-28C>A (n.3016-28C>A) | gnomAD v4 |
15 | g.89631739A>G | CA2630274221 | KIF7 | c.3019-29T>C (n.3019-29T>C) c.2896-29T>C (n.2896-29T>C) n.570-29T>C c.3016-29T>C (n.3016-29T>C) | gnomAD v4 |
15 | g.89631740del | CA2838589922 | KIF7 | c.3019-29del (n.3019-29del) c.2896-29del (n.2896-29del) n.570-29del c.3016-29del (n.3016-29del) | |
15 | g.89631740A>C | CA2838589932 | KIF7 | c.3019-30T>G (n.3019-30T>G) c.2896-30T>G (n.2896-30T>G) n.570-30T>G c.3016-30T>G (n.3016-30T>G) | |
15 | g.89631740A>G | CA2630274222 | KIF7 | c.3019-30T>C (n.3019-30T>C) c.2896-30T>C (n.2896-30T>C) n.570-30T>C c.3016-30T>C (n.3016-30T>C) | gnomAD v4 |
15 | g.89631740A>T | CA2630274224 | KIF7 | c.3019-30T>A (n.3019-30T>A) c.2896-30T>A (n.2896-30T>A) n.570-30T>A c.3016-30T>A (n.3016-30T>A) | gnomAD v4 |
15 | g.89631741G>A | CA7727895 | KIF7 | c.3019-31C>T (n.3019-31C>T) c.2896-31C>T (n.2896-31C>T) n.570-31C>T c.3016-31C>T (n.3016-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631741G= | CA2194760052 | KIF7 | c.3019-31C= (n.3019-31C=) c.2896-31C= (n.2896-31C=) n.570-31C= c.3016-31C= (n.3016-31C=) | |
15 | g.89631741G>T | CA2630274226 | KIF7 | c.3019-31C>A (n.3019-31C>A) c.2896-31C>A (n.2896-31C>A) n.570-31C>A c.3016-31C>A (n.3016-31C>A) | gnomAD v4 |
15 | g.89631742del | CA2630274225 | KIF7 | c.3019-31del (n.3019-31del) c.2896-31del (n.2896-31del) n.570-31del c.3016-31del (n.3016-31del) | gnomAD v4 |
15 | g.89631742G>A | CA2630274228 | KIF7 | c.3019-32C>T (n.3019-32C>T) c.2896-32C>T (n.2896-32C>T) n.570-32C>T c.3016-32C>T (n.3016-32C>T) | gnomAD v4 |
15 | g.89631742G>C | CA2575829932 | KIF7 | c.3019-32C>G (n.3019-32C>G) c.2896-32C>G (n.2896-32C>G) n.570-32C>G c.3016-32C>G (n.3016-32C>G) | |
15 | g.89631742G>T | CA2630274229 | KIF7 | c.3019-32C>A (n.3019-32C>A) c.2896-32C>A (n.2896-32C>A) n.570-32C>A c.3016-32C>A (n.3016-32C>A) | gnomAD v4 |