12 | g.5044323_5044339delinsACGCGGACTCGGGAGTG | CA2013430609 | KCNA5 | c.176_192delinsACGCGGACTCGGGAGTG (p.Asp59=)
| |
12 | g.5044326_5044341del | CA6399554 | KCNA5 | c.179_194del (p.Ala60GlyfsTer?)
| dbSNP ExAC gnomAD v4 |
12 | g.5044325_5044358delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC | CA2013430612 | KCNA5 | c.178_211delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC (p.Ala60=)
| |
12 | g.5044331_5044363dup | CA2617209887 | KCNA5 | c.184_216dup (p.Asp72_Pro73insSerGlyValArgProLeuProProLeuProAsp)
| gnomAD v4 |
12 | g.5044331_5044363del | CA6399556 | KCNA5 | c.184_216del (p.Ser62_Asp72del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044392_5044393insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC | CA2617209886 | KCNA5 | c.245_246insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC (p.Pro82_Glu83insAspProGlyValArgProLeuProProLeuProAspSerGlyValArgProLeuProProLeuProAspProGlyValArgProLeuProProLeuPro)
| gnomAD v4 |
12 | g.5044327G>A | CA6399557 | KCNA5 | c.180G>A (p.Ala60=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044328G>T | CA231866906 | KCNA5 | c.181G>T (p.Asp61Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044330C>A | CA383462060 | KCNA5 | c.183C>A (p.Asp61Glu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044330C>T | CA478094968 | KCNA5 | c.183C>T (p.Asp61=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044331_5044364delinsTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC | CA2013430617 | KCNA5 | c.184_217delinsTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC (p.Ser62=)
| |
12 | g.5044392_5044393insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC | CA2617209888 | KCNA5 | c.245_246insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC (p.Pro82_Glu83insAspProGlyValArgProLeuProProLeuProAspProGlyValArgProLeuProProLeuPro)
| gnomAD v4 |
12 | g.5044360_5044392dup | CA603482564 | KCNA5 | c.213_245dup (p.Pro82_Glu83insAspProGlyValArgProLeuProProLeuPro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044360_5044392del | CA6399558 | KCNA5 | c.213_245del (p.Asp72_Pro82del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044333G>C | CA6399559 | KCNA5 | c.186G>C (p.Ser62=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044333G>T | CA478094971 | KCNA5 | c.186G>T (p.Ser62=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044334G>A | CA383462068 | KCNA5 | c.187G>A (p.Gly63Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044334G>T | CA383462070 | KCNA5 | c.187G>T (p.Gly63Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044335G>T | CA6399560 | KCNA5 | c.188G>T (p.Gly63Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044337G>A | CA383462073 | KCNA5 | c.190G>A (p.Val64Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |