Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.89631533C>A | CA393756880 | KIF7 | c.3196G>T (p.Asp1066Tyr) c.3073G>T (p.Asp1025Tyr) n.747G>T c.3193G>T (p.Asp1065Tyr) | gnomAD v4 |
15 | g.89631533C= | CA2194759477 | KIF7 | c.3196G= (p.Asp1066=) c.3073G= (p.Asp1025=) n.747G= c.3193G= (p.Asp1065=) | |
15 | g.89631533C>G | CA393756882 | KIF7 | c.3196G>C (p.Asp1066His) c.3073G>C (p.Asp1025His) n.747G>C c.3193G>C (p.Asp1065His) | gnomAD v4 |
15 | g.89631533C>T | CA393756884 | KIF7 | c.3196G>A (p.Asp1066Asn) c.3073G>A (p.Asp1025Asn) n.747G>A c.3193G>A (p.Asp1065Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631534G>A | CA274566331 | KIF7 | c.3195C>T (p.Ile1065=) c.3072C>T (p.Ile1024=) n.746C>T c.3192C>T (p.Ile1064=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631534G>C | CA393756887 | KIF7 | c.3195C>G (p.Ile1065Met) c.3072C>G (p.Ile1024Met) n.746C>G c.3192C>G (p.Ile1064Met) | gnomAD v4 |
15 | g.89631534G= | CA2194759480 | KIF7 | c.3195C= (p.Ile1065=) c.3072C= (p.Ile1024=) n.746C= c.3192C= (p.Ile1064=) | |
15 | g.89631534G>T | CA492292437 | KIF7 | c.3195C>A (p.Ile1065=) c.3072C>A (p.Ile1024=) n.746C>A c.3192C>A (p.Ile1064=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631535A= | CA2194759485 | KIF7 | c.3194T= (p.Ile1065=) c.3071T= (p.Ile1024=) n.745T= c.3191T= (p.Ile1064=) | |
15 | g.89631535A>C | CA393756889 | KIF7 | c.3194T>G (p.Ile1065Ser) c.3071T>G (p.Ile1024Ser) n.745T>G c.3191T>G (p.Ile1064Ser) | |
15 | g.89631535A>G | CA393756891 | KIF7 | c.3194T>C (p.Ile1065Thr) c.3071T>C (p.Ile1024Thr) n.745T>C c.3191T>C (p.Ile1064Thr) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631535A>T | CA393756892 | KIF7 | c.3194T>A (p.Ile1065Asn) c.3071T>A (p.Ile1024Asn) n.745T>A c.3191T>A (p.Ile1064Asn) | |
15 | g.89631536T>A | CA393756894 | KIF7 | c.3193A>T (p.Ile1065Phe) c.3070A>T (p.Ile1024Phe) n.744A>T c.3190A>T (p.Ile1064Phe) | |
15 | g.89631536T>C | CA393756896 | KIF7 | c.3193A>G (p.Ile1065Val) c.3070A>G (p.Ile1024Val) n.744A>G c.3190A>G (p.Ile1064Val) | gnomAD v4 |
15 | g.89631536T>G | CA393756898 | KIF7 | c.3193A>C (p.Ile1065Leu) c.3070A>C (p.Ile1024Leu) n.744A>C c.3190A>C (p.Ile1064Leu) | |
15 | g.89631536_89631545delinsTCTCCAGGCG | CA2194759489 | KIF7 | c.3184_3193delinsCGCCTGGAGA (p.Arg1062=) c.3061_3070delinsCGCCTGGAGA (p.Arg1021=) n.735_744delinsCGCCTGGAGA c.3181_3190delinsCGCCTGGAGA (p.Arg1061=) | |
15 | g.89631537C>A | CA7727840 | KIF7 | c.3192G>T (p.Glu1064Asp) c.3069G>T (p.Glu1023Asp) n.743G>T c.3189G>T (p.Glu1063Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631537C= | CA2194759492 | KIF7 | c.3192G= (p.Glu1064=) c.3069G= (p.Glu1023=) n.743G= c.3189G= (p.Glu1063=) | |
15 | g.89631537C>G | CA393756901 | KIF7 | c.3192G>C (p.Glu1064Asp) c.3069G>C (p.Glu1023Asp) n.743G>C c.3189G>C (p.Glu1063Asp) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631537C>T | CA492292438 | KIF7 | c.3192G>A (p.Glu1064=) c.3069G>A (p.Glu1023=) n.743G>A c.3189G>A (p.Glu1063=) | gnomAD v4 |
15 | g.89631539_89631547del | CA972615971 | KIF7 | c.3184_3192del (p.Arg1062_Glu1064del) c.3061_3069del (p.Arg1021_Glu1023del) n.735_743del c.3181_3189del (p.Arg1061_Glu1063del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89631538T>A | CA393756904 | KIF7 | c.3191A>T (p.Glu1064Val) c.3068A>T (p.Glu1023Val) n.742A>T c.3188A>T (p.Glu1063Val) | gnomAD v4 |
15 | g.89631538T>C | CA393756906 | KIF7 | c.3191A>G (p.Glu1064Gly) c.3068A>G (p.Glu1023Gly) n.742A>G c.3188A>G (p.Glu1063Gly) | gnomAD v4 |
15 | g.89631538T>G | CA393756907 | KIF7 | c.3191A>C (p.Glu1064Ala) c.3068A>C (p.Glu1023Ala) n.742A>C c.3188A>C (p.Glu1063Ala) | |
15 | g.89631539C>A | CA393756910 | KIF7 | c.3190G>T (p.Glu1064Ter) c.3067G>T (p.Glu1023Ter) n.741G>T c.3187G>T (p.Glu1063Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.89631539C= | CA2194759496 | KIF7 | c.3190G= (p.Glu1064=) c.3067G= (p.Glu1023=) n.741G= c.3187G= (p.Glu1063=) | |
15 | g.89631539C>G | CA393756912 | KIF7 | c.3190G>C (p.Glu1064Gln) c.3067G>C (p.Glu1023Gln) n.741G>C c.3187G>C (p.Glu1063Gln) | ClinVar |
15 | g.89631539C>T | CA7727841 | KIF7 | c.3190G>A (p.Glu1064Lys) c.3067G>A (p.Glu1023Lys) n.741G>A c.3187G>A (p.Glu1063Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631540del | CA2630273675 | KIF7 | c.3190del (p.Glu1064ArgfsTer6) c.3067del (p.Glu1023ArgfsTer6) n.741del c.3187del (p.Glu1063ArgfsTer6) | gnomAD v4 |
15 | g.89631540C>A | CA492292439 | KIF7 | c.3189G>T (p.Leu1063=) c.3066G>T (p.Leu1022=) n.740G>T c.3186G>T (p.Leu1062=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631540C= | CA2194759499 | KIF7 | c.3189G= (p.Leu1063=) c.3066G= (p.Leu1022=) n.740G= c.3186G= (p.Leu1062=) | |
15 | g.89631540C>G | CA492292440 | KIF7 | c.3189G>C (p.Leu1063=) c.3066G>C (p.Leu1022=) n.740G>C c.3186G>C (p.Leu1062=) | |
15 | g.89631540C>T | CA492292441 | KIF7 | c.3189G>A (p.Leu1063=) c.3066G>A (p.Leu1022=) n.740G>A c.3186G>A (p.Leu1062=) | gnomAD v4 |
15 | g.89631541A>C | CA393756915 | KIF7 | c.3188T>G (p.Leu1063Arg) c.3065T>G (p.Leu1022Arg) n.739T>G c.3185T>G (p.Leu1062Arg) | gnomAD v4 |
15 | g.89631541A>G | CA393756917 | KIF7 | c.3188T>C (p.Leu1063Pro) c.3065T>C (p.Leu1022Pro) n.739T>C c.3185T>C (p.Leu1062Pro) | gnomAD v4 |
15 | g.89631541A>T | CA393756919 | KIF7 | c.3188T>A (p.Leu1063Gln) c.3065T>A (p.Leu1022Gln) n.739T>A c.3185T>A (p.Leu1062Gln) | gnomAD v4 |
15 | g.89631542G>A | CA492292442 | KIF7 | c.3187C>T (p.Leu1063=) c.3064C>T (p.Leu1022=) n.738C>T c.3184C>T (p.Leu1062=) | ClinVar gnomAD v4 |
15 | g.89631542G>C | CA393756922 | KIF7 | c.3187C>G (p.Leu1063Val) c.3064C>G (p.Leu1022Val) n.738C>G c.3184C>G (p.Leu1062Val) | gnomAD v4 |
15 | g.89631542G>T | CA393756924 | KIF7 | c.3187C>A (p.Leu1063Met) c.3064C>A (p.Leu1022Met) n.738C>A c.3184C>A (p.Leu1062Met) | |
15 | g.89631543G>A | CA492292443 | KIF7 | c.3186C>T (p.Arg1062=) c.3063C>T (p.Arg1021=) n.737C>T c.3183C>T (p.Arg1061=) | gnomAD v4 |
15 | g.89631543G>C | CA492292444 | KIF7 | c.3186C>G (p.Arg1062=) c.3063C>G (p.Arg1021=) n.737C>G c.3183C>G (p.Arg1061=) | |
15 | g.89631543G>T | CA492292445 | KIF7 | c.3186C>A (p.Arg1062=) c.3063C>A (p.Arg1021=) n.737C>A c.3183C>A (p.Arg1061=) | |
15 | g.89631544C>A | CA393756930 | KIF7 | c.3185G>T (p.Arg1062Leu) c.3062G>T (p.Arg1021Leu) n.736G>T c.3182G>T (p.Arg1061Leu) | gnomAD v4 |
15 | g.89631544C= | CA2194759501 | KIF7 | c.3185G= (p.Arg1062=) c.3062G= (p.Arg1021=) n.736G= c.3182G= (p.Arg1061=) | |
15 | g.89631544C>G | CA393756928 | KIF7 | c.3185G>C (p.Arg1062Pro) c.3062G>C (p.Arg1021Pro) n.736G>C c.3182G>C (p.Arg1061Pro) | |
15 | g.89631544C>T | CA393756926 | KIF7 | c.3185G>A (p.Arg1062His) c.3062G>A (p.Arg1021His) n.736G>A c.3182G>A (p.Arg1061His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.89631544_89631545insTTGAGCA | CA7727842 | KIF7 | c.3184_3185insTGCTCAA (p.Arg1062LeufsTer29) c.3061_3062insTGCTCAA (p.Arg1021LeufsTer29) n.735_736insTGCTCAA c.3181_3182insTGCTCAA (p.Arg1061LeufsTer29) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631545G>A | CA7727843 | KIF7 | c.3184C>T (p.Arg1062Cys) c.3061C>T (p.Arg1021Cys) n.735C>T c.3181C>T (p.Arg1061Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631545G>C | CA393756932 | KIF7 | c.3184C>G (p.Arg1062Gly) c.3061C>G (p.Arg1021Gly) n.735C>G c.3181C>G (p.Arg1061Gly) | gnomAD v4 |
15 | g.89631545G= | CA2194759504 | KIF7 | c.3184C= (p.Arg1062=) c.3061C= (p.Arg1021=) n.735C= c.3181C= (p.Arg1061=) | |
15 | g.89631545G>T | CA393756933 | KIF7 | c.3184C>A (p.Arg1062Ser) c.3061C>A (p.Arg1021Ser) n.735C>A c.3181C>A (p.Arg1061Ser) | gnomAD v4 |
15 | g.89631546C>A | CA393756934 | KIF7 | c.3183G>T (p.Gln1061His) c.3060G>T (p.Gln1020His) n.734G>T c.3180G>T (p.Gln1060His) | gnomAD v4 |
15 | g.89631546C= | CA2194759505 | KIF7 | c.3183G= (p.Gln1061=) c.3060G= (p.Gln1020=) n.734G= c.3180G= (p.Gln1060=) | |
15 | g.89631546C>G | CA393756935 | KIF7 | c.3183G>C (p.Gln1061His) c.3060G>C (p.Gln1020His) n.734G>C c.3180G>C (p.Gln1060His) | gnomAD v4 |
15 | g.89631546C>T | CA274566360 | KIF7 | c.3183G>A (p.Gln1061=) c.3060G>A (p.Gln1020=) n.734G>A c.3180G>A (p.Gln1060=) | dbSNP gnomAD v4 |
15 | g.89631547T>A | CA393756942 | KIF7 | c.3182A>T (p.Gln1061Leu) c.3059A>T (p.Gln1020Leu) n.733A>T c.3179A>T (p.Gln1060Leu) | |
15 | g.89631547T>C | CA393756938 | KIF7 | c.3182A>G (p.Gln1061Arg) c.3059A>G (p.Gln1020Arg) n.733A>G c.3179A>G (p.Gln1060Arg) | gnomAD v4 |
15 | g.89631547T>G | CA393756939 | KIF7 | c.3182A>C (p.Gln1061Pro) c.3059A>C (p.Gln1020Pro) n.733A>C c.3179A>C (p.Gln1060Pro) | |
15 | g.89631548G>A | CA393756944 | KIF7 | c.3181C>T (p.Gln1061Ter) c.3058C>T (p.Gln1020Ter) n.732C>T c.3178C>T (p.Gln1060Ter) | gnomAD v4 |
15 | g.89631548G>C | CA393756946 | KIF7 | c.3181C>G (p.Gln1061Glu) c.3058C>G (p.Gln1020Glu) n.732C>G c.3178C>G (p.Gln1060Glu) | gnomAD v4 |
15 | g.89631548G>T | CA393756948 | KIF7 | c.3181C>A (p.Gln1061Lys) c.3058C>A (p.Gln1020Lys) n.732C>A c.3178C>A (p.Gln1060Lys) | gnomAD v4 |
15 | g.89631549C>A | CA393756950 | KIF7 | c.3180G>T (p.Lys1060Asn) c.3057G>T (p.Lys1019Asn) n.731G>T c.3177G>T (p.Lys1059Asn) | gnomAD v4 |
15 | g.89631549C= | CA2194759506 | KIF7 | c.3180G= (p.Lys1060=) c.3057G= (p.Lys1019=) n.731G= c.3177G= (p.Lys1059=) | |
15 | g.89631549C>G | CA7727844 | KIF7 | c.3180G>C (p.Lys1060Asn) c.3057G>C (p.Lys1019Asn) n.731G>C c.3177G>C (p.Lys1059Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631549C>T | CA492292446 | KIF7 | c.3180G>A (p.Lys1060=) c.3057G>A (p.Lys1019=) n.731G>A c.3177G>A (p.Lys1059=) | gnomAD v4 |
15 | g.89631550T>A | CA393756954 | KIF7 | c.3179A>T (p.Lys1060Met) c.3056A>T (p.Lys1019Met) n.730A>T c.3176A>T (p.Lys1059Met) | |
15 | g.89631550T>C | CA7727845 | KIF7 | c.3179A>G (p.Lys1060Arg) c.3056A>G (p.Lys1019Arg) n.730A>G c.3176A>G (p.Lys1059Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631550T>G | CA393756956 | KIF7 | c.3179A>C (p.Lys1060Thr) c.3056A>C (p.Lys1019Thr) n.730A>C c.3176A>C (p.Lys1059Thr) | |
15 | g.89631550T= | CA2194759507 | KIF7 | c.3179A= (p.Lys1060=) c.3056A= (p.Lys1019=) n.730A= c.3176A= (p.Lys1059=) | |
15 | g.89631551T>A | CA393756960 | KIF7 | c.3178A>T (p.Lys1060Ter) c.3055A>T (p.Lys1019Ter) n.729A>T c.3175A>T (p.Lys1059Ter) | |
15 | g.89631551T>C | CA393756962 | KIF7 | c.3178A>G (p.Lys1060Glu) c.3055A>G (p.Lys1019Glu) n.729A>G c.3175A>G (p.Lys1059Glu) | |
15 | g.89631551T>G | CA393756963 | KIF7 | c.3178A>C (p.Lys1060Gln) c.3055A>C (p.Lys1019Gln) n.729A>C c.3175A>C (p.Lys1059Gln) | COSMIC COSMIC |
15 | g.89631552G>A | CA492292447 | KIF7 | c.3177C>T (p.Leu1059=) c.3054C>T (p.Leu1018=) n.728C>T c.3174C>T (p.Leu1058=) | gnomAD v4 |
15 | g.89631552G>C | CA492292448 | KIF7 | c.3177C>G (p.Leu1059=) c.3054C>G (p.Leu1018=) n.728C>G c.3174C>G (p.Leu1058=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631552G= | CA2194759508 | KIF7 | c.3177C= (p.Leu1059=) c.3054C= (p.Leu1018=) n.728C= c.3174C= (p.Leu1058=) | |
15 | g.89631552G>T | CA492292449 | KIF7 | c.3177C>A (p.Leu1059=) c.3054C>A (p.Leu1018=) n.728C>A c.3174C>A (p.Leu1058=) | gnomAD v4 |
15 | g.89631553A>C | CA393756965 | KIF7 | c.3176T>G (p.Leu1059Arg) c.3053T>G (p.Leu1018Arg) n.727T>G c.3173T>G (p.Leu1058Arg) | |
15 | g.89631553A>G | CA393756967 | KIF7 | c.3176T>C (p.Leu1059Pro) c.3053T>C (p.Leu1018Pro) n.727T>C c.3173T>C (p.Leu1058Pro) | gnomAD v4 |
15 | g.89631553A>T | CA393756969 | KIF7 | c.3176T>A (p.Leu1059His) c.3053T>A (p.Leu1018His) n.727T>A c.3173T>A (p.Leu1058His) | |
15 | g.89631554G>A | CA393756970 | KIF7 | c.3175C>T (p.Leu1059Phe) c.3052C>T (p.Leu1018Phe) n.726C>T c.3172C>T (p.Leu1058Phe) | |
15 | g.89631554G>C | CA393756971 | KIF7 | c.3175C>G (p.Leu1059Val) c.3052C>G (p.Leu1018Val) n.726C>G c.3172C>G (p.Leu1058Val) | |
15 | g.89631554G>T | CA393756972 | KIF7 | c.3175C>A (p.Leu1059Ile) c.3052C>A (p.Leu1018Ile) n.726C>A c.3172C>A (p.Leu1058Ile) | gnomAD v4 |
15 | g.89631555C>A | CA492292450 | KIF7 | c.3174G>T (p.Leu1058=) c.3051G>T (p.Leu1017=) n.725G>T c.3171G>T (p.Leu1057=) | gnomAD v4 COSMIC COSMIC |
15 | g.89631555C= | CA2194759509 | KIF7 | c.3174G= (p.Leu1058=) c.3051G= (p.Leu1017=) n.725G= c.3171G= (p.Leu1057=) | |
15 | g.89631555C>G | CA492292451 | KIF7 | c.3174G>C (p.Leu1058=) c.3051G>C (p.Leu1017=) n.725G>C c.3171G>C (p.Leu1057=) | |
15 | g.89631555C>T | CA7727846 | KIF7 | c.3174G>A (p.Leu1058=) c.3051G>A (p.Leu1017=) n.725G>A c.3171G>A (p.Leu1057=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631556A>C | CA393756975 | KIF7 | c.3173T>G (p.Leu1058Arg) c.3050T>G (p.Leu1017Arg) n.724T>G c.3170T>G (p.Leu1057Arg) | |
15 | g.89631556A>G | CA393756974 | KIF7 | c.3173T>C (p.Leu1058Pro) c.3050T>C (p.Leu1017Pro) n.724T>C c.3170T>C (p.Leu1057Pro) | |
15 | g.89631556A>T | CA393756973 | KIF7 | c.3173T>A (p.Leu1058Gln) c.3050T>A (p.Leu1017Gln) n.724T>A c.3170T>A (p.Leu1057Gln) | gnomAD v4 |
15 | g.89631558_89631561del | CA2630273748 | KIF7 | c.3170_3173del (p.Ser1057CysfsTer12) c.3047_3050del (p.Ser1016CysfsTer12) n.721_724del c.3167_3170del (p.Ser1056CysfsTer12) | gnomAD v4 |
15 | g.89631557G>A | CA492292452 | KIF7 | c.3172C>T (p.Leu1058=) c.3049C>T (p.Leu1017=) n.723C>T c.3169C>T (p.Leu1057=) | gnomAD v4 |
15 | g.89631557G>C | CA393756976 | KIF7 | c.3172C>G (p.Leu1058Val) c.3049C>G (p.Leu1017Val) n.723C>G c.3169C>G (p.Leu1057Val) | gnomAD v4 |
15 | g.89631557G>T | CA393756977 | KIF7 | c.3172C>A (p.Leu1058Met) c.3049C>A (p.Leu1017Met) n.723C>A c.3169C>A (p.Leu1057Met) | gnomAD v4 |
15 | g.89631558C>A | CA492292454 | KIF7 | c.3171G>T (p.Ser1057=) c.3048G>T (p.Ser1016=) n.722G>T c.3168G>T (p.Ser1056=) | gnomAD v4 |
15 | g.89631558C= | CA2194759510 | KIF7 | c.3171G= (p.Ser1057=) c.3048G= (p.Ser1016=) n.722G= c.3168G= (p.Ser1056=) | |
15 | g.89631558C>G | CA492292453 | KIF7 | c.3171G>C (p.Ser1057=) c.3048G>C (p.Ser1016=) n.722G>C c.3168G>C (p.Ser1056=) | dbSNP |
15 | g.89631558C>T | CA020341 | KIF7 | c.3171G>A (p.Ser1057=) c.3048G>A (p.Ser1016=) n.722G>A c.3168G>A (p.Ser1056=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631559G>A | CA7727847 | KIF7 | c.3170C>T (p.Ser1057Leu) c.3047C>T (p.Ser1016Leu) n.721C>T c.3167C>T (p.Ser1056Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631559G>C | CA393756978 | KIF7 | c.3170C>G (p.Ser1057Trp) c.3047C>G (p.Ser1016Trp) n.721C>G c.3167C>G (p.Ser1056Trp) | |
15 | g.89631559G= | CA2194759511 | KIF7 | c.3170C= (p.Ser1057=) c.3047C= (p.Ser1016=) n.721C= c.3167C= (p.Ser1056=) | |
15 | g.89631559G>T | CA393756979 | KIF7 | c.3170C>A (p.Ser1057Ter) c.3047C>A (p.Ser1016Ter) n.721C>A c.3167C>A (p.Ser1056Ter) | gnomAD v4 |
15 | g.89631560A= | CA2194759512 | KIF7 | c.3169T= (p.Ser1057=) c.3046T= (p.Ser1016=) n.720T= c.3166T= (p.Ser1056=) | |
15 | g.89631560A>C | CA393756980 | KIF7 | c.3169T>G (p.Ser1057Ala) c.3046T>G (p.Ser1016Ala) n.720T>G c.3166T>G (p.Ser1056Ala) | |
15 | g.89631560A>G | CA393756981 | KIF7 | c.3169T>C (p.Ser1057Pro) c.3046T>C (p.Ser1016Pro) n.720T>C c.3166T>C (p.Ser1056Pro) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631560A>T | CA393756982 | KIF7 | c.3169T>A (p.Ser1057Thr) c.3046T>A (p.Ser1016Thr) n.720T>A c.3166T>A (p.Ser1056Thr) | gnomAD v4 |
15 | g.89631561G>A | CA274566398 | KIF7 | c.3168C>T (p.Asp1056=) c.3045C>T (p.Asp1015=) n.719C>T c.3165C>T (p.Asp1055=) | dbSNP gnomAD v4 |
15 | g.89631561G>C | CA7727848 | KIF7 | c.3168C>G (p.Asp1056Glu) c.3045C>G (p.Asp1015Glu) n.719C>G c.3165C>G (p.Asp1055Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89631561G= | CA2194759514 | KIF7 | c.3168C= (p.Asp1056=) c.3045C= (p.Asp1015=) n.719C= c.3165C= (p.Asp1055=) | |
15 | g.89631561G>T | CA393756983 | KIF7 | c.3168C>A (p.Asp1056Glu) c.3045C>A (p.Asp1015Glu) n.719C>A c.3165C>A (p.Asp1055Glu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631562T>A | CA393756984 | KIF7 | c.3167A>T (p.Asp1056Val) c.3044A>T (p.Asp1015Val) n.718A>T c.3164A>T (p.Asp1055Val) | gnomAD v4 |
15 | g.89631562T>C | CA393756985 | KIF7 | c.3167A>G (p.Asp1056Gly) c.3044A>G (p.Asp1015Gly) n.718A>G c.3164A>G (p.Asp1055Gly) | COSMIC COSMIC |
15 | g.89631562T>G | CA393756986 | KIF7 | c.3167A>C (p.Asp1056Ala) c.3044A>C (p.Asp1015Ala) n.718A>C c.3164A>C (p.Asp1055Ala) | |
15 | g.89631563C>A | CA393756987 | KIF7 | c.3166G>T (p.Asp1056Tyr) c.3043G>T (p.Asp1015Tyr) n.717G>T c.3163G>T (p.Asp1055Tyr) | gnomAD v4 |
15 | g.89631563C= | CA2194759515 | KIF7 | c.3166G= (p.Asp1056=) c.3043G= (p.Asp1015=) n.717G= c.3163G= (p.Asp1055=) | |
15 | g.89631563C>G | CA393756988 | KIF7 | c.3166G>C (p.Asp1056His) c.3043G>C (p.Asp1015His) n.717G>C c.3163G>C (p.Asp1055His) | |
15 | g.89631563C>T | CA393756989 | KIF7 | c.3166G>A (p.Asp1056Asn) c.3043G>A (p.Asp1015Asn) n.717G>A c.3163G>A (p.Asp1055Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631563_89631566delinsCCTT | CA2194759516 | KIF7 | c.3163_3166delinsAAGG (p.Lys1055=) c.3040_3043delinsAAGG (p.Lys1014=) n.714_717delinsAAGG c.3160_3163delinsAAGG (p.Lys1054=) | |
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.89631564C>A | CA393756990 | KIF7 | c.3165G>T (p.Lys1055Asn) c.3042G>T (p.Lys1014Asn) n.716G>T c.3162G>T (p.Lys1054Asn) | gnomAD v4 |
15 | g.89631564C= | CA2194759517 | KIF7 | c.3165G= (p.Lys1055=) c.3042G= (p.Lys1014=) n.716G= c.3162G= (p.Lys1054=) | |
15 | g.89631564C>G | CA7727849 | KIF7 | c.3165G>C (p.Lys1055Asn) c.3042G>C (p.Lys1014Asn) n.716G>C c.3162G>C (p.Lys1054Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631564C>T | CA492292455 | KIF7 | c.3165G>A (p.Lys1055=) c.3042G>A (p.Lys1014=) n.716G>A c.3162G>A (p.Lys1054=) | gnomAD v4 |
15 | g.89631566_89631568del | CA645591455 | KIF7 | c.3163_3165del (p.Lys1055del) c.3040_3042del (p.Lys1014del) n.714_716del c.3160_3162del (p.Lys1054del) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
15 | g.89631565T>A | CA393756991 | KIF7 | c.3164A>T (p.Lys1055Met) c.3041A>T (p.Lys1014Met) n.715A>T c.3161A>T (p.Lys1054Met) | |
15 | g.89631565T>C | CA393756992 | KIF7 | c.3164A>G (p.Lys1055Arg) c.3041A>G (p.Lys1014Arg) n.715A>G c.3161A>G (p.Lys1054Arg) | |
15 | g.89631565T>G | CA393756993 | KIF7 | c.3164A>C (p.Lys1055Thr) c.3041A>C (p.Lys1014Thr) n.715A>C c.3161A>C (p.Lys1054Thr) | |
15 | g.89631566T>A | CA393756994 | KIF7 | c.3163A>T (p.Lys1055Ter) c.3040A>T (p.Lys1014Ter) n.714A>T c.3160A>T (p.Lys1054Ter) | gnomAD v4 |
15 | g.89631566T>C | CA7727850 | KIF7 | c.3163A>G (p.Lys1055Glu) c.3040A>G (p.Lys1014Glu) n.714A>G c.3160A>G (p.Lys1054Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631566T>G | CA393756995 | KIF7 | c.3163A>C (p.Lys1055Gln) c.3040A>C (p.Lys1014Gln) n.714A>C c.3160A>C (p.Lys1054Gln) | |
15 | g.89631566T= | CA2194759518 | KIF7 | c.3163A= (p.Lys1055=) c.3040A= (p.Lys1014=) n.714A= c.3160A= (p.Lys1054=) | |
15 | g.89631566_89631569delinsTCTC | CA2194759519 | KIF7 | c.3160_3163delinsGAGA (p.Glu1054=) c.3037_3040delinsGAGA (p.Glu1013=) n.711_714delinsGAGA c.3157_3160delinsGAGA (p.Glu1053=) | |
15 | g.89631567C>A | CA7727851 | KIF7 | c.3162G>T (p.Glu1054Asp) c.3039G>T (p.Glu1013Asp) n.713G>T c.3159G>T (p.Glu1053Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89631567C= | CA2194759523 | KIF7 | c.3162G= (p.Glu1054=) c.3039G= (p.Glu1013=) n.713G= c.3159G= (p.Glu1053=) | |
15 | g.89631567C>G | CA393756996 | KIF7 | c.3162G>C (p.Glu1054Asp) c.3039G>C (p.Glu1013Asp) n.713G>C c.3159G>C (p.Glu1053Asp) | |
15 | g.89631567C>T | CA492292456 | KIF7 | c.3162G>A (p.Glu1054=) c.3039G>A (p.Glu1013=) n.713G>A c.3159G>A (p.Glu1053=) | gnomAD v4 |
15 | g.89631569_89631571del | CA619858258 | KIF7 | c.3160_3162del (p.Glu1054del) c.3037_3039del (p.Glu1013del) n.711_713del c.3157_3159del (p.Glu1053del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631568T>A | CA393756997 | KIF7 | c.3161A>T (p.Glu1054Val) c.3038A>T (p.Glu1013Val) n.712A>T c.3158A>T (p.Glu1053Val) | gnomAD v4 |
15 | g.89631568T>C | CA393756998 | KIF7 | c.3161A>G (p.Glu1054Gly) c.3038A>G (p.Glu1013Gly) n.712A>G c.3158A>G (p.Glu1053Gly) | |
15 | g.89631568T>G | CA393756999 | KIF7 | c.3161A>C (p.Glu1054Ala) c.3038A>C (p.Glu1013Ala) n.712A>C c.3158A>C (p.Glu1053Ala) | |
15 | g.89631569C>A | CA393757002 | KIF7 | c.3160G>T (p.Glu1054Ter) c.3037G>T (p.Glu1013Ter) n.711G>T c.3157G>T (p.Glu1053Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631569C= | CA2194759527 | KIF7 | c.3160G= (p.Glu1054=) c.3037G= (p.Glu1013=) n.711G= c.3157G= (p.Glu1053=) | |
15 | g.89631569C>G | CA393757001 | KIF7 | c.3160G>C (p.Glu1054Gln) c.3037G>C (p.Glu1013Gln) n.711G>C c.3157G>C (p.Glu1053Gln) | |
15 | g.89631569C>T | CA393757000 | KIF7 | c.3160G>A (p.Glu1054Lys) c.3037G>A (p.Glu1013Lys) n.711G>A c.3157G>A (p.Glu1053Lys) | gnomAD v4 |
15 | g.89631570C>A | CA393757003 | KIF7 | c.3159G>T (p.Gln1053His) c.3036G>T (p.Gln1012His) n.710G>T c.3156G>T (p.Gln1052His) | gnomAD v4 |
15 | g.89631570C>G | CA393757006 | KIF7 | c.3159G>C (p.Gln1053His) c.3036G>C (p.Gln1012His) n.710G>C c.3156G>C (p.Gln1052His) | gnomAD v4 |
15 | g.89631570C>T | CA492292457 | KIF7 | c.3159G>A (p.Gln1053=) c.3036G>A (p.Gln1012=) n.710G>A c.3156G>A (p.Gln1052=) | |
15 | g.89631571T>A | CA393757008 | KIF7 | c.3158A>T (p.Gln1053Leu) c.3035A>T (p.Gln1012Leu) n.709A>T c.3155A>T (p.Gln1052Leu) | |
15 | g.89631571T>C | CA393757010 | KIF7 | c.3158A>G (p.Gln1053Arg) c.3035A>G (p.Gln1012Arg) n.709A>G c.3155A>G (p.Gln1052Arg) | gnomAD v4 |
15 | g.89631571T>G | CA393757012 | KIF7 | c.3158A>C (p.Gln1053Pro) c.3035A>C (p.Gln1012Pro) n.709A>C c.3155A>C (p.Gln1052Pro) | |
15 | g.89631572G>A | CA393757019 | KIF7 | c.3157C>T (p.Gln1053Ter) c.3034C>T (p.Gln1012Ter) n.708C>T c.3154C>T (p.Gln1052Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89631572G>C | CA393757017 | KIF7 | c.3157C>G (p.Gln1053Glu) c.3034C>G (p.Gln1012Glu) n.708C>G c.3154C>G (p.Gln1052Glu) | |
15 | g.89631572G= | CA2194759530 | KIF7 | c.3157C= (p.Gln1053=) c.3034C= (p.Gln1012=) n.708C= c.3154C= (p.Gln1052=) | |
15 | g.89631572G>T | CA393757014 | KIF7 | c.3157C>A (p.Gln1053Lys) c.3034C>A (p.Gln1012Lys) n.708C>A c.3154C>A (p.Gln1052Lys) | 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.89631616del | CA2843446756 | KIF7 | c.3115del (p.Gln1039ArgfsTer?) c.2992del (p.Gln998ArgfsTer?) n.666del c.3112del (p.Gln1038ArgfsTer?) | |
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=) |