| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89631525C>A | CA274566307 | KIF7 | c.3204G>T (p.Lys1068Asn) c.3081G>T (p.Lys1027Asn) n.755G>T c.3201G>T (p.Lys1067Asn) | dbSNP gnomAD v4 |
| 15 | g.89631525C= | CA2194759461 | KIF7 | c.3204G= (p.Lys1068=) c.3081G= (p.Lys1027=) n.755G= c.3201G= (p.Lys1067=) | |
| 15 | g.89631525C>G | CA393756845 | KIF7 | c.3204G>C (p.Lys1068Asn) c.3081G>C (p.Lys1027Asn) n.755G>C c.3201G>C (p.Lys1067Asn) | |
| 15 | g.89631525C>T | CA492292433 | KIF7 | c.3204G>A (p.Lys1068=) c.3081G>A (p.Lys1027=) n.755G>A c.3201G>A (p.Lys1067=) | gnomAD v4 |
| 15 | g.89631526T>A | CA393756847 | KIF7 | c.3203A>T (p.Lys1068Met) c.3080A>T (p.Lys1027Met) n.754A>T c.3200A>T (p.Lys1067Met) | gnomAD v4 |
| 15 | g.89631526T>C | CA393756849 | KIF7 | c.3203A>G (p.Lys1068Arg) c.3080A>G (p.Lys1027Arg) n.754A>G c.3200A>G (p.Lys1067Arg) | |
| 15 | g.89631526T>G | CA393756850 | KIF7 | c.3203A>C (p.Lys1068Thr) c.3080A>C (p.Lys1027Thr) n.754A>C c.3200A>C (p.Lys1067Thr) | |
| 15 | g.89631527T>A | CA393756853 | KIF7 | c.3202A>T (p.Lys1068Ter) c.3079A>T (p.Lys1027Ter) n.753A>T c.3199A>T (p.Lys1067Ter) | |
| 15 | g.89631527T>C | CA393756855 | KIF7 | c.3202A>G (p.Lys1068Glu) c.3079A>G (p.Lys1027Glu) n.753A>G c.3199A>G (p.Lys1067Glu) | gnomAD v4 |
| 15 | g.89631527T>G | CA393756856 | KIF7 | c.3202A>C (p.Lys1068Gln) c.3079A>C (p.Lys1027Gln) n.753A>C c.3199A>C (p.Lys1067Gln) | |
| 15 | g.89631528G>A | CA492292434 | KIF7 | c.3201C>T (p.Gly1067=) c.3078C>T (p.Gly1026=) n.752C>T c.3198C>T (p.Gly1066=) | |
| 15 | g.89631528G>C | CA492292436 | KIF7 | c.3201C>G (p.Gly1067=) c.3078C>G (p.Gly1026=) n.752C>G c.3198C>G (p.Gly1066=) | |
| 15 | g.89631528G>T | CA492292435 | KIF7 | c.3201C>A (p.Gly1067=) c.3078C>A (p.Gly1026=) n.752C>A c.3198C>A (p.Gly1066=) | gnomAD v4 |
| 15 | g.89631529C>A | CA393756859 | KIF7 | c.3200G>T (p.Gly1067Val) c.3077G>T (p.Gly1026Val) n.751G>T c.3197G>T (p.Gly1066Val) | gnomAD v4 |
| 15 | g.89631529C= | CA2194759464 | KIF7 | c.3200G= (p.Gly1067=) c.3077G= (p.Gly1026=) n.751G= c.3197G= (p.Gly1066=) | |
| 15 | g.89631529C>G | CA393756861 | KIF7 | c.3200G>C (p.Gly1067Ala) c.3077G>C (p.Gly1026Ala) n.751G>C c.3197G>C (p.Gly1066Ala) | |
| 15 | g.89631529C>T | CA274566311 | KIF7 | c.3200G>A (p.Gly1067Asp) c.3077G>A (p.Gly1026Asp) n.751G>A c.3197G>A (p.Gly1066Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89631530del | CA2630273599 | KIF7 | c.3200del (p.Gly1067AlafsTer3) c.3077del (p.Gly1026AlafsTer3) n.751del c.3197del (p.Gly1066AlafsTer3) | gnomAD v4 |
| 15 | g.89631530C>A | CA393756867 | KIF7 | c.3199G>T (p.Gly1067Cys) c.3076G>T (p.Gly1026Cys) n.750G>T c.3196G>T (p.Gly1066Cys) | gnomAD v4 |
| 15 | g.89631530C= | CA2194759472 | KIF7 | c.3199G= (p.Gly1067=) c.3076G= (p.Gly1026=) n.750G= c.3196G= (p.Gly1066=) | |
| 15 | g.89631530C>G | CA393756865 | KIF7 | c.3199G>C (p.Gly1067Arg) c.3076G>C (p.Gly1026Arg) n.750G>C c.3196G>C (p.Gly1066Arg) | gnomAD v4 |
| 15 | g.89631530C>T | CA393756863 | KIF7 | c.3199G>A (p.Gly1067Ser) c.3076G>A (p.Gly1026Ser) n.750G>A c.3196G>A (p.Gly1066Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89631531G>A | CA7727839 | KIF7 | c.3198C>T (p.Asp1066=) c.3075C>T (p.Asp1025=) n.749C>T c.3195C>T (p.Asp1065=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89631531G>C | CA393756872 | KIF7 | c.3198C>G (p.Asp1066Glu) c.3075C>G (p.Asp1025Glu) n.749C>G c.3195C>G (p.Asp1065Glu) | |
| 15 | g.89631531G= | CA2194759475 | KIF7 | c.3198C= (p.Asp1066=) c.3075C= (p.Asp1025=) n.749C= c.3195C= (p.Asp1065=) | |
| 15 | g.89631531G>T | CA393756870 | KIF7 | c.3198C>A (p.Asp1066Glu) c.3075C>A (p.Asp1025Glu) n.749C>A c.3195C>A (p.Asp1065Glu) | gnomAD v4 |
| 15 | g.89631532T>A | CA393756874 | KIF7 | c.3197A>T (p.Asp1066Val) c.3074A>T (p.Asp1025Val) n.748A>T c.3194A>T (p.Asp1065Val) | |
| 15 | g.89631532T>C | CA393756876 | KIF7 | c.3197A>G (p.Asp1066Gly) c.3074A>G (p.Asp1025Gly) n.748A>G c.3194A>G (p.Asp1065Gly) | gnomAD v4 |
| 15 | g.89631532T>G | CA393756878 | KIF7 | c.3197A>C (p.Asp1066Ala) c.3074A>C (p.Asp1025Ala) n.748A>C c.3194A>C (p.Asp1065Ala) | |
| 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 |