UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.95260433_95260435del | CA2536366477 | CFAP418 | c.308+34_308+36del (n.308+34_308+36del) c.647+34_647+36del (n.647+34_647+36del) | |
| 8 | g.95260433A>G | CA2687989261 | CFAP418 | c.308+35T>C (n.308+35T>C) c.647+35T>C (n.647+35T>C) | gnomAD v4 |
| 8 | g.95260433A>T | CA2687989262 | CFAP418 | c.308+35T>A (n.308+35T>A) c.647+35T>A (n.647+35T>A) | gnomAD v4 |
| 8 | g.95260434G>A | CA2687989263 | CFAP418 | c.308+34C>T (n.308+34C>T) c.647+34C>T (n.647+34C>T) | gnomAD v4 |
| 8 | g.95260434G>T | CA2579247650 | CFAP418 | c.308+34C>A (n.308+34C>A) c.647+34C>A (n.647+34C>A) | gnomAD v4 |
| 8 | g.95260435T>C | CA4815188 | CFAP418 | c.308+33A>G (n.308+33A>G) c.647+33A>G (n.647+33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.95260435T>G | CA857176759 | CFAP418 | c.308+33A>C (n.308+33A>C) c.647+33A>C (n.647+33A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.95260435T= | CA1803877953 | CFAP418 | c.308+33A= (n.308+33A=) c.647+33A= (n.647+33A=) | |
| 8 | g.95260436G>A | CA4815189 | CFAP418 | c.308+32C>T (n.308+32C>T) c.647+32C>T (n.647+32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.95260436G= | CA1803877955 | CFAP418 | c.308+32C= (n.308+32C=) c.647+32C= (n.647+32C=) | |
| 8 | g.95260436G>T | CA2687989264 | CFAP418 | c.308+32C>A (n.308+32C>A) c.647+32C>A (n.647+32C>A) | gnomAD v4 |
| 8 | g.95260437T>C | CA1803877959 | CFAP418 | c.308+31A>G (n.308+31A>G) c.647+31A>G (n.647+31A>G) | dbSNP gnomAD v4 |
| 8 | g.95260437T= | CA1803877958 | CFAP418 | c.308+31A= (n.308+31A=) c.647+31A= (n.647+31A=) | |
| 8 | g.95260438G>A | CA1116814756 | CFAP418 | c.308+30C>T (n.308+30C>T) c.647+30C>T (n.647+30C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.95260438G= | CA1803877962 | CFAP418 | c.308+30C= (n.308+30C=) c.647+30C= (n.647+30C=) | |
| 8 | g.95260438G>T | CA2687989265 | CFAP418 | c.308+30C>A (n.308+30C>A) c.647+30C>A (n.647+30C>A) | gnomAD v4 |
| 8 | g.95260439T>C | CA2687989266 | CFAP418 | c.308+29A>G (n.308+29A>G) c.647+29A>G (n.647+29A>G) | gnomAD v4 |
| 8 | g.95260440A>G | CA2687989268 | CFAP418 | c.308+28T>C (n.308+28T>C) c.647+28T>C (n.647+28T>C) | gnomAD v4 |
| 8 | g.95260440A>T | CA2687989267 | CFAP418 | c.308+28T>A (n.308+28T>A) c.647+28T>A (n.647+28T>A) | gnomAD v4 |
| 8 | g.95260441T>A | CA2687989269 | CFAP418 | c.308+27A>T (n.308+27A>T) c.647+27A>T (n.647+27A>T) | gnomAD v4 |
| 8 | g.95260441T>C | CA1803877965 | CFAP418 | c.308+27A>G (n.308+27A>G) c.647+27A>G (n.647+27A>G) | dbSNP gnomAD v4 |
| 8 | g.95260441T= | CA1803877963 | CFAP418 | c.308+27A= (n.308+27A=) c.647+27A= (n.647+27A=) | |
| 8 | g.95260442A>G | CA2687989270 | CFAP418 | c.308+26T>C (n.308+26T>C) c.647+26T>C (n.647+26T>C) | gnomAD v4 |
| 8 | g.95260442A>T | CA2687989271 | CFAP418 | c.308+26T>A (n.308+26T>A) c.647+26T>A (n.647+26T>A) | gnomAD v4 |
| 8 | g.95260444T>A | CA2579247651 | CFAP418 | c.308+24A>T (n.308+24A>T) c.647+24A>T (n.647+24A>T) | |
| 8 | g.95260444T>C | CA583705314 | CFAP418 | c.308+24A>G (n.308+24A>G) c.647+24A>G (n.647+24A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.95260444T= | CA1803877967 | CFAP418 | c.308+24A= (n.308+24A=) c.647+24A= (n.647+24A=) | |
| 8 | g.95260446C>A | CA2687989272 | CFAP418 | c.308+22G>T (n.308+22G>T) c.647+22G>T (n.647+22G>T) | gnomAD v4 |
| 8 | g.95260448C>A | CA583705315 | CFAP418 | c.308+20G>T (n.308+20G>T) c.647+20G>T (n.647+20G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.95260448C= | CA1803877969 | CFAP418 | c.308+20G= (n.308+20G=) c.647+20G= (n.647+20G=) | |
| 8 | g.95260448C>G | CA2687989273 | CFAP418 | c.308+20G>C (n.308+20G>C) c.647+20G>C (n.647+20G>C) | gnomAD v4 |
| 8 | g.95260448C>T | CA182089337 | CFAP418 | c.308+20G>A (n.308+20G>A) c.647+20G>A (n.647+20G>A) | dbSNP gnomAD v4 |
| 8 | g.95260449C>A | CA4815190 | CFAP418 | c.308+19G>T (n.308+19G>T) c.647+19G>T (n.647+19G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.95260449C= | CA1803877972 | CFAP418 | c.308+19G= (n.308+19G=) c.647+19G= (n.647+19G=) | |
| 8 | g.95260449C>G | CA857176760 | CFAP418 | c.308+19G>C (n.308+19G>C) c.647+19G>C (n.647+19G>C) | dbSNP |
| 8 | g.95260449C>T | CA2687989274 | CFAP418 | c.308+19G>A (n.308+19G>A) c.647+19G>A (n.647+19G>A) | gnomAD v4 |
| 8 | g.95260451A= | CA1803877975 | CFAP418 | c.308+17T= (n.308+17T=) c.647+17T= (n.647+17T=) | |
| 8 | g.95260451A>G | CA1116814766 | CFAP418 | c.308+17T>C (n.308+17T>C) c.647+17T>C (n.647+17T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.95260452A>C | CA2687989276 | CFAP418 | c.308+16T>G (n.308+16T>G) c.647+16T>G (n.647+16T>G) | gnomAD v4 |
| 8 | g.95260452A>G | CA2687989275 | CFAP418 | c.308+16T>C (n.308+16T>C) c.647+16T>C (n.647+16T>C) | gnomAD v4 |
| 8 | g.95260453G>A | CA2687989277 | CFAP418 | c.308+15C>T (n.308+15C>T) c.647+15C>T (n.647+15C>T) | gnomAD v4 |
| 8 | g.95260453G>T | CA2579247652 | CFAP418 | c.308+15C>A (n.308+15C>A) c.647+15C>A (n.647+15C>A) | gnomAD v4 |
| 8 | g.95260454C= | CA1803877976 | CFAP418 | c.308+14G= (n.308+14G=) c.647+14G= (n.647+14G=) | |
| 8 | g.95260454C>T | CA4815191 | CFAP418 | c.308+14G>A (n.308+14G>A) c.647+14G>A (n.647+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.95260455A= | CA1803877978 | CFAP418 | c.308+13T= (n.308+13T=) c.647+13T= (n.647+13T=) | |
| 8 | g.95260455A>G | CA4815192 | CFAP418 | c.308+13T>C (n.308+13T>C) c.647+13T>C (n.647+13T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.95260456A= | CA1803877981 | CFAP418 | c.308+12T= (n.308+12T=) c.647+12T= (n.647+12T=) | |
| 8 | g.95260456A>G | CA2687989278 | CFAP418 | c.308+12T>C (n.308+12T>C) c.647+12T>C (n.647+12T>C) | gnomAD v4 |
| 8 | g.95260456A>T | CA4815193 | CFAP418 | c.308+12T>A (n.308+12T>A) c.647+12T>A (n.647+12T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.95260458C>A | CA857176761 | CFAP418 | c.308+10G>T (n.308+10G>T) c.647+10G>T (n.647+10G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.95260458C= | CA1803877985 | CFAP418 | c.308+10G= (n.308+10G=) c.647+10G= (n.647+10G=) | |
| 8 | g.95260458C>T | CA2537744352 | CFAP418 | c.308+10G>A (n.308+10G>A) c.647+10G>A (n.647+10G>A) | |
| 8 | g.95260459T>C | CA2519989657 | CFAP418 | c.308+9A>G (n.308+9A>G) c.647+9A>G (n.647+9A>G) | gnomAD v4 |
| 8 | g.95260459T>G | CA2687989279 | CFAP418 | c.308+9A>C (n.308+9A>C) c.647+9A>C (n.647+9A>C) | gnomAD v4 |
| 8 | g.95260461A>C | CA2573143397 | CFAP418 | c.308+7T>G (n.308+7T>G) c.647+7T>G (n.647+7T>G) | ClinVar dbSNP gnomAD v4 |
| 8 | g.95260461A>G | CA2579247653 | CFAP418 | c.308+7T>C (n.308+7T>C) c.647+7T>C (n.647+7T>C) | |
| 8 | g.95260462A= | CA1803877987 | CFAP418 | c.308+6T= (n.308+6T=) c.647+6T= (n.647+6T=) | |
| 8 | g.95260462A>G | CA4815194 | CFAP418 | c.308+6T>C (n.308+6T>C) c.647+6T>C (n.647+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.95260464T>A | CA2687989281 | CFAP418 | c.308+4A>T (n.308+4A>T) c.647+4A>T (n.647+4A>T) | gnomAD v4 |
| 8 | g.95260464T>C | CA1803877989 | CFAP418 | c.308+4A>G (n.308+4A>G) c.647+4A>G (n.647+4A>G) | ClinVar dbSNP gnomAD v4 |
| 8 | g.95260464T= | CA1803877988 | CFAP418 | c.308+4A= (n.308+4A=) c.647+4A= (n.647+4A=) | |
| 8 | g.95260465del | CA2687989280 | CFAP418 | c.308+4del (n.308+4del) c.647+4del (n.647+4del) | gnomAD v4 |
| 8 | g.95260465T>C | CA2687989282 | CFAP418 | c.308+3A>G (n.308+3A>G) c.647+3A>G (n.647+3A>G) | gnomAD v4 |
| 8 | g.95260466A= | CA1803877993 | CFAP418 | c.308+2T= (n.308+2T=) c.647+2T= (n.647+2T=) | |
| 8 | g.95260466A>C | CA371837352 | CFAP418 | c.308+2T>G (n.308+2T>G) c.647+2T>G (n.647+2T>G) | |
| 8 | g.95260466A>G | CA371837353 | CFAP418 | c.308+2T>C (n.308+2T>C) c.647+2T>C (n.647+2T>C) | dbSNP |
| 8 | g.95260466A>T | CA371837354 | CFAP418 | c.308+2T>A (n.308+2T>A) c.647+2T>A (n.647+2T>A) | gnomAD v4 |
| 8 | g.95260467C>A | CA371837355 | CFAP418 | c.308+1G>T (n.308+1G>T) c.647+1G>T (n.647+1G>T) | |
| 8 | g.95260467C= | CA1803877997 | CFAP418 | c.308+1G= (n.308+1G=) c.647+1G= (n.647+1G=) | |
| 8 | g.95260467C>G | CA371837356 | CFAP418 | c.308+1G>C (n.308+1G>C) c.647+1G>C (n.647+1G>C) | |
| 8 | g.95260467C>T | CA371837357 | CFAP418 | c.308+1G>A (n.308+1G>A) c.647+1G>A (n.647+1G>A) | dbSNP |
| 8 | g.95260468C>A | CA371837359 | CFAP418 | c.308G>T (p.Ser103Ile) c.647G>T (p.Ser216Ile) | |
| 8 | g.95260468C>G | CA371837360 | CFAP418 | c.308G>C (p.Ser103Thr) c.647G>C (p.Ser216Thr) | gnomAD v4 |
| 8 | g.95260468C>T | CA371837358 | CFAP418 | c.308G>A (p.Ser103Asn) c.647G>A (p.Ser216Asn) | gnomAD v4 |
| 8 | g.95260468_95260469delinsCT | CA1803878001 | CFAP418 | c.307_308delinsAG (p.Ser103=) c.646_647delinsAG (p.Ser216=) | |
| 8 | g.95260469T>A | CA371837361 | CFAP418 | c.307A>T (p.Ser103Cys) c.646A>T (p.Ser216Cys) | |
| 8 | g.95260469T>C | CA371837362 | CFAP418 | c.307A>G (p.Ser103Gly) c.646A>G (p.Ser216Gly) | gnomAD v4 |
| 8 | g.95260469T>G | CA371837363 | CFAP418 | c.307A>C (p.Ser103Arg) c.646A>C (p.Ser216Arg) | gnomAD v4 |
| 8 | g.95260472del | CA1116814772 | CFAP418 | c.307del (p.Ser103ValfsTer?) c.646del (p.Ser216ValfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.95260470T>A | CA371837364 | CFAP418 | c.306A>T (p.Lys102Asn) c.645A>T (p.Lys215Asn) | |
| 8 | g.95260470T>C | CA462354092 | CFAP418 | c.306A>G (p.Lys102=) c.645A>G (p.Lys215=) | |
| 8 | g.95260470T>G | CA371837365 | CFAP418 | c.306A>C (p.Lys102Asn) c.645A>C (p.Lys215Asn) | |
| 8 | g.95260471T>A | CA371837368 | CFAP418 | c.305A>T (p.Lys102Ile) c.644A>T (p.Lys215Ile) | |
| 8 | g.95260471T>C | CA371837367 | CFAP418 | c.305A>G (p.Lys102Arg) c.644A>G (p.Lys215Arg) | |
| 8 | g.95260471T>G | CA371837366 | CFAP418 | c.305A>C (p.Lys102Thr) c.644A>C (p.Lys215Thr) | |
| 8 | g.95260472T>A | CA4815195 | CFAP418 | c.304A>T (p.Lys102Ter) c.643A>T (p.Lys215Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.95260472T>C | CA371837369 | CFAP418 | c.304A>G (p.Lys102Glu) c.643A>G (p.Lys215Glu) | ClinVar gnomAD v4 |
| 8 | g.95260472T>G | CA371837370 | CFAP418 | c.304A>C (p.Lys102Gln) c.643A>C (p.Lys215Gln) | |
| 8 | g.95260472T= | CA1803878006 | CFAP418 | c.304A= (p.Lys102=) c.643A= (p.Lys215=) | |
| 8 | g.95260473A>C | CA462354093 | CFAP418 | c.303T>G (p.Gly101=) c.642T>G (p.Gly214=) | |
| 8 | g.95260473A>G | CA462354094 | CFAP418 | c.303T>C (p.Gly101=) c.642T>C (p.Gly214=) | |
| 8 | g.95260473A>T | CA462354095 | CFAP418 | c.303T>A (p.Gly101=) c.642T>A (p.Gly214=) | |
| 8 | g.95260474C>A | CA371837371 | CFAP418 | c.302G>T (p.Gly101Val) c.641G>T (p.Gly214Val) | dbSNP gnomAD v4 |
| 8 | g.95260474C= | CA1803878008 | CFAP418 | c.302G= (p.Gly101=) c.641G= (p.Gly214=) | |
| 8 | g.95260474C>G | CA371837372 | CFAP418 | c.302G>C (p.Gly101Ala) c.641G>C (p.Gly214Ala) | |
| 8 | g.95260474C>T | CA371837373 | CFAP418 | c.302G>A (p.Gly101Asp) c.641G>A (p.Gly214Asp) | dbSNP gnomAD v4 |
| 8 | g.95260475C>A | CA371837374 | CFAP418 | c.301G>T (p.Gly101Cys) c.640G>T (p.Gly214Cys) | gnomAD v4 |
| 8 | g.95260475C= | CA1803878012 | CFAP418 | c.301G= (p.Gly101=) c.640G= (p.Gly214=) | |
| 8 | g.95260475C>G | CA371837376 | CFAP418 | c.301G>C (p.Gly101Arg) c.640G>C (p.Gly214Arg) | |
| 8 | g.95260475C>T | CA371837375 | CFAP418 | c.301G>A (p.Gly101Ser) c.640G>A (p.Gly214Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.95260476A>C | CA462354096 | CFAP418 | c.300T>G (p.Leu100=) c.639T>G (p.Leu213=) | |
| 8 | g.95260476A>G | CA462354097 | CFAP418 | c.300T>C (p.Leu100=) c.639T>C (p.Leu213=) | |
| 8 | g.95260476A>T | CA462354098 | CFAP418 | c.300T>A (p.Leu100=) c.639T>A (p.Leu213=) | |
| 8 | g.95260477A= | CA1803878016 | CFAP418 | c.299T= (p.Leu100=) c.638T= (p.Leu213=) | |
| 8 | g.95260477A>C | CA371837377 | CFAP418 | c.299T>G (p.Leu100Arg) c.638T>G (p.Leu213Arg) | ClinVar dbSNP |
| 8 | g.95260477A>G | CA371837378 | CFAP418 | c.299T>C (p.Leu100Pro) c.638T>C (p.Leu213Pro) | |
| 8 | g.95260477A>T | CA371837379 | CFAP418 | c.299T>A (p.Leu100His) c.638T>A (p.Leu213His) | |
| 8 | g.95260478G>A | CA371837380 | CFAP418 | c.298C>T (p.Leu100Phe) c.637C>T (p.Leu213Phe) | |
| 8 | g.95260478G>C | CA371837381 | CFAP418 | c.298C>G (p.Leu100Val) c.637C>G (p.Leu213Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.95260478G= | CA1803878021 | CFAP418 | c.298C= (p.Leu100=) c.637C= (p.Leu213=) | |
| 8 | g.95260478G>T | CA371837382 | CFAP418 | c.298C>A (p.Leu100Ile) c.637C>A (p.Leu213Ile) | gnomAD v4 COSMIC |
| 8 | g.95260479dup | CA2573143398 | CFAP418 | c.298dup (p.Leu100ProfsTer3) c.637dup (p.Leu213ProfsTer3) | ClinVar dbSNP |
| 8 | g.95260479G>A | CA462354099 | CFAP418 | c.297C>T (p.Gly99=) c.636C>T (p.Gly212=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.95260479G>C | CA462354100 | CFAP418 | c.297C>G (p.Gly99=) c.636C>G (p.Gly212=) | |
| 8 | g.95260479G= | CA1803878023 | CFAP418 | c.297C= (p.Gly99=) c.636C= (p.Gly212=) | |
| 8 | g.95260479G>T | CA462354101 | CFAP418 | c.297C>A (p.Gly99=) c.636C>A (p.Gly212=) | |
| 8 | g.95260480C>A | CA371837383 | CFAP418 | c.296G>T (p.Gly99Val) c.635G>T (p.Gly212Val) | |
| 8 | g.95260480C>G | CA371837384 | CFAP418 | c.296G>C (p.Gly99Ala) c.635G>C (p.Gly212Ala) | |
| 8 | g.95260480C>T | CA371837385 | CFAP418 | c.296G>A (p.Gly99Asp) c.635G>A (p.Gly212Asp) | |
| 8 | g.95260481C>A | CA371837386 | CFAP418 | c.295G>T (p.Gly99Cys) c.634G>T (p.Gly212Cys) | |
| 8 | g.95260481C>G | CA371837387 | CFAP418 | c.295G>C (p.Gly99Arg) c.634G>C (p.Gly212Arg) | |
| 8 | g.95260481C>T | CA371837388 | CFAP418 | c.295G>A (p.Gly99Ser) c.634G>A (p.Gly212Ser) | |
| 8 | g.95260482T>A | CA371837390 | CFAP418 | c.294A>T (p.Glu98Asp) c.633A>T (p.Glu211Asp) | ClinVar dbSNP |
| 8 | g.95260482T>C | CA462354103 | CFAP418 | c.294A>G (p.Glu98=) c.633A>G (p.Glu211=) | |
| 8 | g.95260482T>G | CA371837389 | CFAP418 | c.294A>C (p.Glu98Asp) c.633A>C (p.Glu211Asp) | |
| 8 | g.95260482T= | CA1803878026 | CFAP418 | c.294A= (p.Glu98=) c.633A= (p.Glu211=) | |
| 8 | g.95260483T>A | CA371837391 | CFAP418 | c.293A>T (p.Glu98Val) c.632A>T (p.Glu211Val) | |
| 8 | g.95260483T>C | CA371837393 | CFAP418 | c.293A>G (p.Glu98Gly) c.632A>G (p.Glu211Gly) | gnomAD v4 |
| 8 | g.95260483T>G | CA371837392 | CFAP418 | c.293A>C (p.Glu98Ala) c.632A>C (p.Glu211Ala) | |
| 8 | g.95260484C>A | CA371837394 | CFAP418 | c.292G>T (p.Glu98Ter) c.631G>T (p.Glu211Ter) | gnomAD v4 |
| 8 | g.95260484C= | CA1803878028 | CFAP418 | c.292G= (p.Glu98=) c.631G= (p.Glu211=) | |
| 8 | g.95260484C>G | CA371837395 | CFAP418 | c.292G>C (p.Glu98Gln) c.631G>C (p.Glu211Gln) | |
| 8 | g.95260484C>T | CA182089338 | CFAP418 | c.292G>A (p.Glu98Lys) c.631G>A (p.Glu211Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.95260485A>C | CA371837396 | CFAP418 | c.291T>G (p.Ile97Met) c.630T>G (p.Ile210Met) | gnomAD v4 |
| 8 | g.95260485A>G | CA462354104 | CFAP418 | c.291T>C (p.Ile97=) c.630T>C (p.Ile210=) | |
| 8 | g.95260485A>T | CA462354105 | CFAP418 | c.291T>A (p.Ile97=) c.630T>A (p.Ile210=) | |
| 8 | g.95260486A= | CA1803878031 | CFAP418 | c.290T= (p.Ile97=) c.629T= (p.Ile210=) | |
| 8 | g.95260486A>C | CA371837399 | CFAP418 | c.290T>G (p.Ile97Ser) c.629T>G (p.Ile210Ser) | |
| 8 | g.95260486A>G | CA371837397 | CFAP418 | c.290T>C (p.Ile97Thr) c.629T>C (p.Ile210Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.95260486A>T | CA371837398 | CFAP418 | c.290T>A (p.Ile97Asn) c.629T>A (p.Ile210Asn) | |
| 8 | g.95260487T>A | CA371837400 | CFAP418 | c.289A>T (p.Ile97Phe) c.628A>T (p.Ile210Phe) | |
| 8 | g.95260487T>C | CA371837401 | CFAP418 | c.289A>G (p.Ile97Val) c.628A>G (p.Ile210Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.95260487T>G | CA371837402 | CFAP418 | c.289A>C (p.Ile97Leu) c.628A>C (p.Ile210Leu) | |
| 8 | g.95260487T= | CA1803878033 | CFAP418 | c.289A= (p.Ile97=) c.628A= (p.Ile210=) | |
| 8 | g.95260488G>A | CA462354106 | CFAP418 | c.288C>T (p.Ser96=) c.627C>T (p.Ser209=) | dbSNP gnomAD v4 |
| 8 | g.95260488G>C | CA462354107 | CFAP418 | c.288C>G (p.Ser96=) c.627C>G (p.Ser209=) | |
| 8 | g.95260488G= | CA1803878035 | CFAP418 | c.288C= (p.Ser96=) c.627C= (p.Ser209=) | |
| 8 | g.95260488G>T | CA462354108 | CFAP418 | c.288C>A (p.Ser96=) c.627C>A (p.Ser209=) | |
| 8 | g.95260489G>A | CA371837403 | CFAP418 | c.287C>T (p.Ser96Phe) c.626C>T (p.Ser209Phe) | gnomAD v4 |
| 8 | g.95260489G>C | CA371837404 | CFAP418 | c.287C>G (p.Ser96Cys) c.626C>G (p.Ser209Cys) | |
| 8 | g.95260489G>T | CA371837405 | CFAP418 | c.287C>A (p.Ser96Tyr) c.626C>A (p.Ser209Tyr) | gnomAD v4 |
| 8 | g.95260490A>C | CA371837406 | CFAP418 | c.286T>G (p.Ser96Ala) c.625T>G (p.Ser209Ala) | |
| 8 | g.95260490A>G | CA371837407 | CFAP418 | c.286T>C (p.Ser96Pro) c.625T>C (p.Ser209Pro) | gnomAD v4 |
| 8 | g.95260490A>T | CA371837408 | CFAP418 | c.286T>A (p.Ser96Thr) c.625T>A (p.Ser209Thr) | |
| 8 | g.95260491del | CA2687989283 | CFAP418 | c.286del (p.Ser96ProfsTer?) c.625del (p.Ser209ProfsTer?) | gnomAD v4 |
| 8 | g.95260491A>C | CA462354109 | CFAP418 | c.285T>G (p.Ala95=) c.624T>G (p.Ala208=) | |
| 8 | g.95260491A>G | CA462354110 | CFAP418 | c.285T>C (p.Ala95=) c.624T>C (p.Ala208=) | gnomAD v4 |
| 8 | g.95260491A>T | CA462354111 | CFAP418 | c.285T>A (p.Ala95=) c.624T>A (p.Ala208=) | |
| 8 | g.95260492G>A | CA371837410 | CFAP418 | c.284C>T (p.Ala95Val) c.623C>T (p.Ala208Val) | |
| 8 | g.95260492G>C | CA371837409 | CFAP418 | c.284C>G (p.Ala95Gly) c.623C>G (p.Ala208Gly) | |
| 8 | g.95260492G= | CA1803878038 | CFAP418 | c.284C= (p.Ala95=) c.623C= (p.Ala208=) | |
| 8 | g.95260492G>T | CA182089339 | CFAP418 | c.284C>A (p.Ala95Asp) c.623C>A (p.Ala208Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.95260493C>A | CA371837411 | CFAP418 | c.283G>T (p.Ala95Ser) c.622G>T (p.Ala208Ser) | gnomAD v4 |
| 8 | g.95260493C= | CA1803878041 | CFAP418 | c.283G= (p.Ala95=) c.622G= (p.Ala208=) | |
| 8 | g.95260493C>G | CA371837412 | CFAP418 | c.283G>C (p.Ala95Pro) c.622G>C (p.Ala208Pro) | |
| 8 | g.95260493C>T | CA371837413 | CFAP418 | c.283G>A (p.Ala95Thr) c.622G>A (p.Ala208Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.95260494T>A | CA371837414 | CFAP418 | c.282A>T (p.Arg94Ser) c.621A>T (p.Arg207Ser) | |
| 8 | g.95260494T>C | CA462354112 | CFAP418 | c.282A>G (p.Arg94=) c.621A>G (p.Arg207=) | |
| 8 | g.95260494T>G | CA371837415 | CFAP418 | c.282A>C (p.Arg94Ser) c.621A>C (p.Arg207Ser) | |
| 8 | g.95260495C>A | CA371837416 | CFAP418 | c.281G>T (p.Arg94Ile) c.620G>T (p.Arg207Ile) | |
| 8 | g.95260495C>G | CA371837417 | CFAP418 | c.281G>C (p.Arg94Thr) c.620G>C (p.Arg207Thr) | |
| 8 | g.95260495C>T | CA371837418 | CFAP418 | c.281G>A (p.Arg94Lys) c.620G>A (p.Arg207Lys) | gnomAD v4 |
| 8 | g.95260496T>A | CA371837419 | CFAP418 | c.280A>T (p.Arg94Ter) c.619A>T (p.Arg207Ter) | |
| 8 | g.95260496T>C | CA371837420 | CFAP418 | c.280A>G (p.Arg94Gly) c.619A>G (p.Arg207Gly) | |
| 8 | g.95260496T>G | CA462354113 | CFAP418 | c.280A>C (p.Arg94=) c.619A>C (p.Arg207=) | |
| 8 | g.95260497G>A | CA462354114 | CFAP418 | c.279C>T (p.Val93=) c.618C>T (p.Val206=) | gnomAD v4 |
| 8 | g.95260497G>C | CA462354115 | CFAP418 | c.279C>G (p.Val93=) c.618C>G (p.Val206=) | |
| 8 | g.95260497G= | CA1803878043 | CFAP418 | c.279C= (p.Val93=) c.618C= (p.Val206=) | |
| 8 | g.95260497G>T | CA462354116 | CFAP418 | c.279C>A (p.Val93=) c.618C>A (p.Val206=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.95260498A>C | CA371837421 | CFAP418 | c.278T>G (p.Val93Gly) c.617T>G (p.Val206Gly) | |
| 8 | g.95260498A>G | CA371837422 | CFAP418 | c.278T>C (p.Val93Ala) c.617T>C (p.Val206Ala) | |
| 8 | g.95260498A>T | CA371837423 | CFAP418 | c.278T>A (p.Val93Asp) c.617T>A (p.Val206Asp) | |
| 8 | g.95260499C>A | CA371837426 | CFAP418 | c.277G>T (p.Val93Phe) c.616G>T (p.Val206Phe) | gnomAD v4 |
| 8 | g.95260499C>G | CA371837425 | CFAP418 | c.277G>C (p.Val93Leu) c.616G>C (p.Val206Leu) | |
| 8 | g.95260499C>T | CA371837424 | CFAP418 | c.277G>A (p.Val93Ile) c.616G>A (p.Val206Ile) | gnomAD v4 |
| 8 | g.95260500A>C | CA462354117 | CFAP418 | c.276T>G (p.Ser92=) c.615T>G (p.Ser205=) | |
| 8 | g.95260500A>G | CA462354118 | CFAP418 | c.276T>C (p.Ser92=) c.615T>C (p.Ser205=) | |
| 8 | g.95260500A>T | CA462354119 | CFAP418 | c.276T>A (p.Ser92=) c.615T>A (p.Ser205=) | |
| 8 | g.95260501G>A | CA371837429 | CFAP418 | c.275C>T (p.Ser92Phe) c.614C>T (p.Ser205Phe) | COSMIC |
| 8 | g.95260501G>C | CA371837427 | CFAP418 | c.275C>G (p.Ser92Cys) c.614C>G (p.Ser205Cys) | |
| 8 | g.95260501G>T | CA371837428 | CFAP418 | c.275C>A (p.Ser92Tyr) c.614C>A (p.Ser205Tyr) | |
| 8 | g.95260502A>C | CA371837430 | CFAP418 | c.274T>G (p.Ser92Ala) c.613T>G (p.Ser205Ala) | |
| 8 | g.95260502A>G | CA371837431 | CFAP418 | c.274T>C (p.Ser92Pro) c.613T>C (p.Ser205Pro) | |
| 8 | g.95260502A>T | CA371837432 | CFAP418 | c.274T>A (p.Ser92Thr) c.613T>A (p.Ser205Thr) | gnomAD v4 |
| 8 | g.95260503T>A | CA462354122 | CFAP418 | c.273A>T (p.Thr91=) c.612A>T (p.Thr204=) | |
| 8 | g.95260503T>C | CA462354121 | CFAP418 | c.273A>G (p.Thr91=) c.612A>G (p.Thr204=) | |
| 8 | g.95260503T>G | CA462354120 | CFAP418 | c.273A>C (p.Thr91=) c.612A>C (p.Thr204=) | |
| 8 | g.95260504G>A | CA4815196 | CFAP418 | c.272C>T (p.Thr91Ile) c.611C>T (p.Thr204Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.95260504G>C | CA371837433 | CFAP418 | c.272C>G (p.Thr91Arg) c.611C>G (p.Thr204Arg) | |
| 8 | g.95260504G= | CA1803878045 | CFAP418 | c.272C= (p.Thr91=) c.611C= (p.Thr204=) | |
| 8 | g.95260504G>T | CA371837434 | CFAP418 | c.272C>A (p.Thr91Lys) c.611C>A (p.Thr204Lys) | |
| 8 | g.95260505T>A | CA371837435 | CFAP418 | c.271A>T (p.Thr91Ser) c.610A>T (p.Thr204Ser) | |
| 8 | g.95260505T>C | CA371837436 | CFAP418 | c.271A>G (p.Thr91Ala) c.610A>G (p.Thr204Ala) | |
| 8 | g.95260505T>G | CA371837437 | CFAP418 | c.271A>C (p.Thr91Pro) c.610A>C (p.Thr204Pro) | |
| 8 | g.95260506G>A | CA462354123 | CFAP418 | c.270C>T (p.Asn90=) c.609C>T (p.Asn203=) | |
| 8 | g.95260506G>C | CA371837438 | CFAP418 | c.270C>G (p.Asn90Lys) c.609C>G (p.Asn203Lys) | |
| 8 | g.95260506G>T | CA371837439 | CFAP418 | c.270C>A (p.Asn90Lys) c.609C>A (p.Asn203Lys) | COSMIC |
| 8 | g.95260507T>A | CA371837441 | CFAP418 | c.269A>T (p.Asn90Ile) c.608A>T (p.Asn203Ile) | |
| 8 | g.95260507T>C | CA4815197 | CFAP418 | c.269A>G (p.Asn90Ser) c.608A>G (p.Asn203Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.95260507T>G | CA371837440 | CFAP418 | c.269A>C (p.Asn90Thr) c.608A>C (p.Asn203Thr) | |
| 8 | g.95260507T= | CA1803878049 | CFAP418 | c.269A= (p.Asn90=) c.608A= (p.Asn203=) | |
| 8 | g.95260508T>A | CA371837442 | CFAP418 | c.268A>T (p.Asn90Tyr) c.607A>T (p.Asn203Tyr) | |
| 8 | g.95260508T>C | CA371837443 | CFAP418 | c.268A>G (p.Asn90Asp) c.607A>G (p.Asn203Asp) | |
| 8 | g.95260508T>G | CA371837444 | CFAP418 | c.268A>C (p.Asn90His) c.607A>C (p.Asn203His) | |
| 8 | g.95260509A>C | CA462354124 | CFAP418 | c.267T>G (p.Gly89=) c.606T>G (p.Gly202=) | |
| 8 | g.95260509A>G | CA462354125 | CFAP418 | c.267T>C (p.Gly89=) c.606T>C (p.Gly202=) | gnomAD v4 |
| 8 | g.95260509A>T | CA462354126 | CFAP418 | c.267T>A (p.Gly89=) c.606T>A (p.Gly202=) | |
| 8 | g.95260510C>A | CA371837445 | CFAP418 | c.266G>T (p.Gly89Val) c.605G>T (p.Gly202Val) | |
| 8 | g.95260510C>G | CA371837446 | CFAP418 | c.266G>C (p.Gly89Ala) c.605G>C (p.Gly202Ala) | |
| 8 | g.95260510C>T | CA371837447 | CFAP418 | c.266G>A (p.Gly89Asp) c.605G>A (p.Gly202Asp) | gnomAD v4 |
| 8 | g.95260511C>A | CA371837448 | CFAP418 | c.265G>T (p.Gly89Cys) c.604G>T (p.Gly202Cys) | |
| 8 | g.95260511C>G | CA371837449 | CFAP418 | c.265G>C (p.Gly89Arg) c.604G>C (p.Gly202Arg) | |
| 8 | g.95260511C>T | CA371837450 | CFAP418 | c.265G>A (p.Gly89Ser) c.604G>A (p.Gly202Ser) | |
| 8 | g.95260512T>A | CA462354127 | CFAP418 | c.264A>T (p.Ser88=) c.603A>T (p.Ser201=) | |
| 8 | g.95260512T>C | CA182089340 | CFAP418 | c.264A>G (p.Ser88=) c.603A>G (p.Ser201=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.95260512T>G | CA462354128 | CFAP418 | c.264A>C (p.Ser88=) c.603A>C (p.Ser201=) | |
| 8 | g.95260512T= | CA1803878054 | CFAP418 | c.264A= (p.Ser88=) c.603A= (p.Ser201=) | |
| 8 | g.95260513G>A | CA371837451 | CFAP418 | c.263C>T (p.Ser88Leu) c.602C>T (p.Ser201Leu) | |
| 8 | g.95260513G>C | CA371837452 | CFAP418 | c.263C>G (p.Ser88Ter) c.602C>G (p.Ser201Ter) | |
| 8 | g.95260513G>T | CA371837453 | CFAP418 | c.263C>A (p.Ser88Ter) c.602C>A (p.Ser201Ter) | gnomAD v4 |
| 8 | g.95260514A>C | CA371837455 | CFAP418 | c.262T>G (p.Ser88Ala) c.601T>G (p.Ser201Ala) | |
| 8 | g.95260514A>G | CA371837456 | CFAP418 | c.262T>C (p.Ser88Pro) c.601T>C (p.Ser201Pro) | |
| 8 | g.95260514A>T | CA371837454 | CFAP418 | c.262T>A (p.Ser88Thr) c.601T>A (p.Ser201Thr) | |
| 8 | g.95260515A>C | CA462354129 | CFAP418 | c.261T>G (p.Ser87=) c.600T>G (p.Ser200=) | |
| 8 | g.95260515A>G | CA462354130 | CFAP418 | c.261T>C (p.Ser87=) c.600T>C (p.Ser200=) | gnomAD v4 |
| 8 | g.95260515A>T | CA462354131 | CFAP418 | c.261T>A (p.Ser87=) c.600T>A (p.Ser200=) | |
| 8 | g.95260516G>A | CA371837457 | CFAP418 | c.260C>T (p.Ser87Phe) c.599C>T (p.Ser200Phe) | |
| 8 | g.95260516G>C | CA371837459 | CFAP418 | c.260C>G (p.Ser87Cys) c.599C>G (p.Ser200Cys) | |
| 8 | g.95260516G>T | CA371837458 | CFAP418 | c.260C>A (p.Ser87Tyr) c.599C>A (p.Ser200Tyr) | |
| 8 | g.95260517A>C | CA371837460 | CFAP418 | c.259T>G (p.Ser87Ala) c.598T>G (p.Ser200Ala) | |
| 8 | g.95260517A>G | CA371837461 | CFAP418 | c.259T>C (p.Ser87Pro) c.598T>C (p.Ser200Pro) | |
| 8 | g.95260517A>T | CA371837462 | CFAP418 | c.259T>A (p.Ser87Thr) c.598T>A (p.Ser200Thr) | |
| 8 | g.95260517_95260524delinsATTTAGAT | CA1803878056 | CFAP418 | c.252_259delinsATCTAAAT (p.Lys84=) c.591_598delinsATCTAAAT (p.Lys197=) | |
| 8 | g.95260518T>A | CA371837463 | CFAP418 | c.258A>T (p.Lys86Asn) c.597A>T (p.Lys199Asn) | gnomAD v4 |
| 8 | g.95260518T>C | CA462354132 | CFAP418 | c.258A>G (p.Lys86=) c.597A>G (p.Lys199=) | |
| 8 | g.95260518T>G | CA371837464 | CFAP418 | c.258A>C (p.Lys86Asn) c.597A>C (p.Lys199Asn) | |
| 8 | g.95260522_95260528del | CA1116814791 | CFAP418 | c.252_258del (p.Lys84AsnfsTer?) c.591_597del (p.Lys197AsnfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.95260519T>A | CA371837465 | CFAP418 | c.257A>T (p.Lys86Ile) c.596A>T (p.Lys199Ile) | |
| 8 | g.95260519T>C | CA371837466 | CFAP418 | c.257A>G (p.Lys86Arg) c.596A>G (p.Lys199Arg) | COSMIC |
| 8 | g.95260519T>G | CA371837467 | CFAP418 | c.257A>C (p.Lys86Thr) c.596A>C (p.Lys199Thr) | |
| 8 | g.95260520T>A | CA371837468 | CFAP418 | c.256A>T (p.Lys86Ter) c.595A>T (p.Lys199Ter) | |
| 8 | g.95260520T>C | CA371837469 | CFAP418 | c.256A>G (p.Lys86Glu) c.595A>G (p.Lys199Glu) | |
| 8 | g.95260520T>G | CA371837470 | CFAP418 | c.256A>C (p.Lys86Gln) c.595A>C (p.Lys199Gln) | |
| 8 | g.95260521A= | CA1803878061 | CFAP418 | c.255T= (p.Ser85=) c.594T= (p.Ser198=) | |
| 8 | g.95260521A>C | CA462354133 | CFAP418 | c.255T>G (p.Ser85=) c.594T>G (p.Ser198=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.95260521A>G | CA462354134 | CFAP418 | c.255T>C (p.Ser85=) c.594T>C (p.Ser198=) | gnomAD v4 |
| 8 | g.95260521A>T | CA462354135 | CFAP418 | c.255T>A (p.Ser85=) c.594T>A (p.Ser198=) | |
| 8 | g.95260521_95260527delinsAGATTTT | CA1803878063 | CFAP418 | c.249_255delinsAAAATCT (p.Leu83=) c.588_594delinsAAAATCT (p.Leu196=) | |
| 8 | g.95260522G>A | CA4815198 | CFAP418 | c.254C>T (p.Ser85Phe) c.593C>T (p.Ser198Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.95260522G>C | CA371837471 | CFAP418 | c.254C>G (p.Ser85Cys) c.593C>G (p.Ser198Cys) | |
| 8 | g.95260522G= | CA1803878066 | CFAP418 | c.254C= (p.Ser85=) c.593C= (p.Ser198=) | |
| 8 | g.95260522G>T | CA371837472 | CFAP418 | c.254C>A (p.Ser85Tyr) c.593C>A (p.Ser198Tyr) | dbSNP |
| 8 | g.95260522_95260527del | CA1803878065 | CFAP418 | c.249_254del (p.Leu83_Ser85delinsPhe) c.588_593del (p.Leu196_Ser198delinsPhe) | dbSNP |
| 8 | g.95260523A>C | CA371837473 | CFAP418 | c.253T>G (p.Ser85Ala) c.592T>G (p.Ser198Ala) | |
| 8 | g.95260523A>G | CA371837474 | CFAP418 | c.253T>C (p.Ser85Pro) c.592T>C (p.Ser198Pro) | gnomAD v4 |
| 8 | g.95260523A>T | CA371837475 | CFAP418 | c.253T>A (p.Ser85Thr) c.592T>A (p.Ser198Thr) | |
| 8 | g.95260524T>A | CA371837476 | CFAP418 | c.252A>T (p.Lys84Asn) c.591A>T (p.Lys197Asn) | |
| 8 | g.95260524T>C | CA462354136 | CFAP418 | c.252A>G (p.Lys84=) c.591A>G (p.Lys197=) | gnomAD v4 |
| 8 | g.95260524T>G | CA371837477 | CFAP418 | c.252A>C (p.Lys84Asn) c.591A>C (p.Lys197Asn) | |
| 8 | g.95260525T>A | CA371837478 | CFAP418 | c.251A>T (p.Lys84Ile) c.590A>T (p.Lys197Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.95260525T>C | CA371837479 | CFAP418 | c.251A>G (p.Lys84Arg) c.590A>G (p.Lys197Arg) | gnomAD v4 |
| 8 | g.95260525T>G | CA371837480 | CFAP418 | c.251A>C (p.Lys84Thr) c.590A>C (p.Lys197Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.95260525T= | CA1803878070 | CFAP418 | c.251A= (p.Lys84=) c.590A= (p.Lys197=) | |
| 8 | g.95260528_95260532del | CA2687989284 | CFAP418 | c.247_251del (p.Leu83IlefsTer2) c.586_590del (p.Leu196IlefsTer2) | gnomAD v4 |
| 8 | g.95260526T>A | CA371837481 | CFAP418 | c.250A>T (p.Lys84Ter) c.589A>T (p.Lys197Ter) | |
| 8 | g.95260526T>C | CA371837482 | CFAP418 | c.250A>G (p.Lys84Glu) c.589A>G (p.Lys197Glu) | |
| 8 | g.95260526T>G | CA371837483 | CFAP418 | c.250A>C (p.Lys84Gln) c.589A>C (p.Lys197Gln) | |
| 8 | g.95260527T>A | CA371837485 | CFAP418 | c.249A>T (p.Leu83Phe) c.588A>T (p.Leu196Phe) | |
| 8 | g.95260527T>C | CA462354137 | CFAP418 | c.249A>G (p.Leu83=) c.588A>G (p.Leu196=) | dbSNP gnomAD v4 |
| 8 | g.95260527T>G | CA371837484 | CFAP418 | c.249A>C (p.Leu83Phe) c.588A>C (p.Leu196Phe) | |
| 8 | g.95260528A= | CA1803878075 | CFAP418 | c.248T= (p.Leu83=) c.587T= (p.Leu196=) | |
| 8 | g.95260528A>C | CA371837486 | CFAP418 | c.248T>G (p.Leu83Ter) c.587T>G (p.Leu196Ter) | |
| 8 | g.95260528A>G | CA371837487 | CFAP418 | c.248T>C (p.Leu83Ser) c.587T>C (p.Leu196Ser) | |
| 8 | g.95260528A>T | CA371837488 | CFAP418 | c.248T>A (p.Leu83Ter) c.587T>A (p.Leu196Ter) | |
| 8 | g.95260529A>C | CA371837489 | CFAP418 | c.247T>G (p.Leu83Val) c.586T>G (p.Leu196Val) | |
| 8 | g.95260529A>G | CA462354138 | CFAP418 | c.247T>C (p.Leu83=) c.586T>C (p.Leu196=) | |
| 8 | g.95260529A>T | CA371837490 | CFAP418 | c.247T>A (p.Leu83Ile) c.586T>A (p.Leu196Ile) | |
| 8 | g.95260529_95260532dup | CA857176762 | CFAP418 | c.244_247dup (p.Leu83Ter) c.583_586dup (p.Leu196Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.95260530T>A | CA371837491 | CFAP418 | c.246A>T (p.Lys82Asn) c.585A>T (p.Lys195Asn) | |
| 8 | g.95260530T>C | CA462354139 | CFAP418 | c.246A>G (p.Lys82=) c.585A>G (p.Lys195=) | |
| 8 | g.95260530T>G | CA371837492 | CFAP418 | c.246A>C (p.Lys82Asn) c.585A>C (p.Lys195Asn) | |
| 8 | g.95260531T>A | CA371837493 | CFAP418 | c.245A>T (p.Lys82Ile) c.584A>T (p.Lys195Ile) | |
| 8 | g.95260531T>C | CA371837495 | CFAP418 | c.245A>G (p.Lys82Arg) c.584A>G (p.Lys195Arg) | |
| 8 | g.95260531T>G | CA371837494 | CFAP418 | c.245A>C (p.Lys82Thr) c.584A>C (p.Lys195Thr) | |
| 8 | g.95260531_95260533delinsTTC | CA1803878080 | CFAP418 | c.244-1_245delinsGAA c.583-1_584delinsGAA | |
| 8 | g.95260531_95260532insC | CA2781364118 | CFAP418 | c.244_245insG (p.Lys82ArgfsTer5) c.583_584insG (p.Lys195ArgfsTer5) | |
| 8 | g.95260532T>A | CA371837496 | CFAP418 | c.244A>T (p.Lys82Ter) c.583A>T (p.Lys195Ter) | |
| 8 | g.95260532T>C | CA371837497 | CFAP418 | c.244A>G (p.Lys82Glu) c.583A>G (p.Lys195Glu) | gnomAD v4 |
| 8 | g.95260532T>G | CA371837498 | CFAP418 | c.244A>C (p.Lys82Gln) c.583A>C (p.Lys195Gln) | |
| 8 | g.95260533_95260534del | CA4815199 | CFAP418 | c.244-1_244del c.583-1_583del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.95260533_95260536del | CA2687989285 | CFAP418 | c.244-3_244del c.583-3_583del | gnomAD v4 |
| 8 | g.95260533C>A | CA371837499 | CFAP418 | c.244-1G>T (n.244-1G>T) c.583-1G>T (n.583-1G>T) | gnomAD v4 |
| 8 | g.95260533C>G | CA371837501 | CFAP418 | c.244-1G>C (n.244-1G>C) c.583-1G>C (n.583-1G>C) | |
| 8 | g.95260533C>T | CA371837500 | CFAP418 | c.244-1G>A (n.244-1G>A) c.583-1G>A (n.583-1G>A) |