| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1858055C>A | CA369954948 | ARHGEF10 | c.133C>A (p.Gln45Lys) c.592C>A c.*84C>A (n.*84C>A) c.523C>A c.205C>A (p.Gln69Lys) c.88C>A (p.Gln30Lys) c.217C>A (p.Gln73Lys) | |
| 8 | g.1858055C= | CA1757725848 | ARHGEF10 | c.133C= (p.Gln45=) c.592C= c.*84C= (n.*84C=) c.523C= c.205C= (p.Gln69=) c.88C= (p.Gln30=) c.217C= (p.Gln73=) | |
| 8 | g.1858055C>G | CA369954949 | ARHGEF10 | c.133C>G (p.Gln45Glu) c.592C>G c.*84C>G (n.*84C>G) c.523C>G c.205C>G (p.Gln69Glu) c.88C>G (p.Gln30Glu) c.217C>G (p.Gln73Glu) | gnomAD v4 |
| 8 | g.1858055C>T | CA369954950 | ARHGEF10 | c.133C>T (p.Gln45Ter) c.592C>T c.*84C>T (n.*84C>T) c.523C>T c.205C>T (p.Gln69Ter) c.88C>T (p.Gln30Ter) c.217C>T (p.Gln73Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.1858056A= | CA1757725851 | ARHGEF10 | c.134A= (p.Gln45=) c.593A= c.*85A= (n.*85A=) c.524A= c.206A= (p.Gln69=) c.89A= (p.Gln30=) c.218A= (p.Gln73=) | |
| 8 | g.1858056A>C | CA4599597 | ARHGEF10 | c.134A>C (p.Gln45Pro) c.593A>C c.*85A>C (n.*85A>C) c.524A>C c.206A>C (p.Gln69Pro) c.89A>C (p.Gln30Pro) c.218A>C (p.Gln73Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1858056A>G | CA369954951 | ARHGEF10 | c.134A>G (p.Gln45Arg) c.593A>G c.*85A>G (n.*85A>G) c.524A>G c.206A>G (p.Gln69Arg) c.89A>G (p.Gln30Arg) c.218A>G (p.Gln73Arg) | |
| 8 | g.1858056A>T | CA369954952 | ARHGEF10 | c.134A>T (p.Gln45Leu) c.593A>T c.*85A>T (n.*85A>T) c.524A>T c.206A>T (p.Gln69Leu) c.89A>T (p.Gln30Leu) c.218A>T (p.Gln73Leu) | |
| 8 | g.1858057G>A | CA459054453 | ARHGEF10 | c.135G>A (p.Gln45=) c.594G>A c.*86G>A (n.*86G>A) c.525G>A c.207G>A (p.Gln69=) c.90G>A (p.Gln30=) c.219G>A (p.Gln73=) | |
| 8 | g.1858057G>C | CA369954953 | ARHGEF10 | c.135G>C (p.Gln45His) c.594G>C c.*86G>C (n.*86G>C) c.525G>C c.207G>C (p.Gln69His) c.90G>C (p.Gln30His) c.219G>C (p.Gln73His) | |
| 8 | g.1858057G>T | CA369954954 | ARHGEF10 | c.135G>T (p.Gln45His) c.594G>T c.*86G>T (n.*86G>T) c.525G>T c.207G>T (p.Gln69His) c.90G>T (p.Gln30His) c.219G>T (p.Gln73His) | |
| 8 | g.1858058G>A | CA369954955 | ARHGEF10 | c.136G>A (p.Ala46Thr) c.595G>A c.*87G>A (n.*87G>A) c.526G>A c.208G>A (p.Ala70Thr) c.91G>A (p.Ala31Thr) c.220G>A (p.Ala74Thr) | |
| 8 | g.1858058G>C | CA369954956 | ARHGEF10 | c.136G>C (p.Ala46Pro) c.595G>C c.*87G>C (n.*87G>C) c.526G>C c.208G>C (p.Ala70Pro) c.91G>C (p.Ala31Pro) c.220G>C (p.Ala74Pro) | |
| 8 | g.1858058G= | CA1757725853 | ARHGEF10 | c.136G= (p.Ala46=) c.595G= c.*87G= (n.*87G=) c.526G= c.208G= (p.Ala70=) c.91G= (p.Ala31=) c.220G= (p.Ala74=) | |
| 8 | g.1858058G>T | CA4599598 | ARHGEF10 | c.136G>T (p.Ala46Ser) c.595G>T c.*87G>T (n.*87G>T) c.526G>T c.208G>T (p.Ala70Ser) c.91G>T (p.Ala31Ser) c.220G>T (p.Ala74Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1858059C>A | CA369954958 | ARHGEF10 | c.137C>A (p.Ala46Asp) c.596C>A c.*88C>A (n.*88C>A) c.527C>A c.209C>A (p.Ala70Asp) c.92C>A (p.Ala31Asp) c.221C>A (p.Ala74Asp) | |
| 8 | g.1858059C= | CA1757725857 | ARHGEF10 | c.137C= (p.Ala46=) c.596C= c.*88C= (n.*88C=) c.527C= c.209C= (p.Ala70=) c.92C= (p.Ala31=) c.221C= (p.Ala74=) | |
| 8 | g.1858059C>G | CA369954957 | ARHGEF10 | c.137C>G (p.Ala46Gly) c.596C>G c.*88C>G (n.*88C>G) c.527C>G c.209C>G (p.Ala70Gly) c.92C>G (p.Ala31Gly) c.221C>G (p.Ala74Gly) | |
| 8 | g.1858059C>T | CA4599599 | ARHGEF10 | c.137C>T (p.Ala46Val) c.596C>T c.*88C>T (n.*88C>T) c.527C>T c.209C>T (p.Ala70Val) c.92C>T (p.Ala31Val) c.221C>T (p.Ala74Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1858060C>A | CA459054463 | ARHGEF10 | c.138C>A (p.Ala46=) c.597C>A c.*89C>A (n.*89C>A) c.528C>A c.210C>A (p.Ala70=) c.93C>A (p.Ala31=) c.222C>A (p.Ala74=) | |
| 8 | g.1858060C= | CA1757725859 | ARHGEF10 | c.138C= (p.Ala46=) c.597C= c.*89C= (n.*89C=) c.528C= c.210C= (p.Ala70=) c.93C= (p.Ala31=) c.222C= (p.Ala74=) | |
| 8 | g.1858060C>G | CA4599600 | ARHGEF10 | c.138C>G (p.Ala46=) c.597C>G c.*89C>G (n.*89C>G) c.528C>G c.210C>G (p.Ala70=) c.93C>G (p.Ala31=) c.222C>G (p.Ala74=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1858060C>T | CA459054465 | ARHGEF10 | c.138C>T (p.Ala46=) c.597C>T c.*89C>T (n.*89C>T) c.528C>T c.210C>T (p.Ala70=) c.93C>T (p.Ala31=) c.222C>T (p.Ala74=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1858061C>A | CA4599602 | ARHGEF10 | c.139C>A (p.Pro47Thr) c.598C>A c.*90C>A (n.*90C>A) c.529C>A c.211C>A (p.Pro71Thr) c.94C>A (p.Pro32Thr) c.223C>A (p.Pro75Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1858061C= | CA1757725861 | ARHGEF10 | c.139C= (p.Pro47=) c.598C= c.*90C= (n.*90C=) c.529C= c.211C= (p.Pro71=) c.94C= (p.Pro32=) c.223C= (p.Pro75=) | |
| 8 | g.1858061C>G | CA369954959 | ARHGEF10 | c.139C>G (p.Pro47Ala) c.598C>G c.*90C>G (n.*90C>G) c.529C>G c.211C>G (p.Pro71Ala) c.94C>G (p.Pro32Ala) c.223C>G (p.Pro75Ala) | gnomAD v4 |
| 8 | g.1858061C>T | CA4599601 | ARHGEF10 | c.139C>T (p.Pro47Ser) c.598C>T c.*90C>T (n.*90C>T) c.529C>T c.211C>T (p.Pro71Ser) c.94C>T (p.Pro32Ser) c.223C>T (p.Pro75Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1858062C>A | CA369954960 | ARHGEF10 | c.140C>A (p.Pro47Gln) c.599C>A c.*91C>A (n.*91C>A) c.530C>A c.212C>A (p.Pro71Gln) c.95C>A (p.Pro32Gln) c.224C>A (p.Pro75Gln) | gnomAD v4 |
| 8 | g.1858062C>G | CA369954961 | ARHGEF10 | c.140C>G (p.Pro47Arg) c.599C>G c.*91C>G (n.*91C>G) c.530C>G c.212C>G (p.Pro71Arg) c.95C>G (p.Pro32Arg) c.224C>G (p.Pro75Arg) | |
| 8 | g.1858062C>T | CA369954962 | ARHGEF10 | c.140C>T (p.Pro47Leu) c.599C>T c.*91C>T (n.*91C>T) c.530C>T c.212C>T (p.Pro71Leu) c.95C>T (p.Pro32Leu) c.224C>T (p.Pro75Leu) | |
| 8 | g.1858062_1858063insCTCCGCCCCTG | CA2590771586 | ARHGEF10 | c.140_141insCTCCGCCCCTG (p.Glu51AspfsTer?) c.599_600insCTCCGCCCCTG c.*91_*92insCTCCGCCCCTG (n.*91_*92insCTCCGCCCCTG) c.530_531insCTCCGCCCCTG c.212_213insCTCCGCCCCTG (p.Glu75AspfsTer?) c.95_96insCTCCGCCCCTG (p.Glu36AspfsTer?) c.224_225insCTCCGCCCCTG (p.Glu79AspfsTer?) | gnomAD v3 gnomAD v4 |
| 8 | g.1858063A= | CA1630835031 | ARHGEF10 | c.141A= (p.Pro47=) c.600A= c.*92A= (n.*92A=) c.531A= c.213A= (p.Pro71=) c.96A= (p.Pro32=) c.225A= (p.Pro75=) | |
| 8 | g.1858063A>C | CA4599603 | ARHGEF10 | c.141A>C (p.Pro47=) c.600A>C c.*92A>C (n.*92A>C) c.531A>C c.213A>C (p.Pro71=) c.96A>C (p.Pro32=) c.225A>C (p.Pro75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1858063A>G | CA4599604 | ARHGEF10 | c.141A>G (p.Pro47=) c.600A>G c.*92A>G (n.*92A>G) c.531A>G c.213A>G (p.Pro71=) c.96A>G (p.Pro32=) c.225A>G (p.Pro75=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1858063A>T | CA459054477 | ARHGEF10 | c.141A>T (p.Pro47=) c.600A>T c.*92A>T (n.*92A>T) c.531A>T c.213A>T (p.Pro71=) c.96A>T (p.Pro32=) c.225A>T (p.Pro75=) | |
| 8 | g.1858064T>A | CA369954963 | ARHGEF10 | c.142T>A (p.Ser48Thr) c.601T>A c.*93T>A (n.*93T>A) c.532T>A c.214T>A (p.Ser72Thr) c.97T>A (p.Ser33Thr) c.226T>A (p.Ser76Thr) | |
| 8 | g.1858064T>C | CA369954964 | ARHGEF10 | c.142T>C (p.Ser48Pro) c.601T>C c.*93T>C (n.*93T>C) c.532T>C c.214T>C (p.Ser72Pro) c.97T>C (p.Ser33Pro) c.226T>C (p.Ser76Pro) | |
| 8 | g.1858064T>G | CA369954965 | ARHGEF10 | c.142T>G (p.Ser48Ala) c.601T>G c.*93T>G (n.*93T>G) c.532T>G c.214T>G (p.Ser72Ala) c.97T>G (p.Ser33Ala) c.226T>G (p.Ser76Ala) | |
| 8 | g.1858065C>A | CA369954968 | ARHGEF10 | c.143C>A (p.Ser48Tyr) c.602C>A c.*94C>A (n.*94C>A) c.533C>A c.215C>A (p.Ser72Tyr) c.98C>A (p.Ser33Tyr) c.227C>A (p.Ser76Tyr) | |
| 8 | g.1858065C= | CA1757725872 | ARHGEF10 | c.143C= (p.Ser48=) c.602C= c.*94C= (n.*94C=) c.533C= c.215C= (p.Ser72=) c.98C= (p.Ser33=) c.227C= (p.Ser76=) | |
| 8 | g.1858065C>G | CA369954967 | ARHGEF10 | c.143C>G (p.Ser48Cys) c.602C>G c.*94C>G (n.*94C>G) c.533C>G c.215C>G (p.Ser72Cys) c.98C>G (p.Ser33Cys) c.227C>G (p.Ser76Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1858065C>T | CA369954966 | ARHGEF10 | c.143C>T (p.Ser48Phe) c.602C>T c.*94C>T (n.*94C>T) c.533C>T c.215C>T (p.Ser72Phe) c.98C>T (p.Ser33Phe) c.227C>T (p.Ser76Phe) | |
| 8 | g.1858066C>A | CA459054488 | ARHGEF10 | c.144C>A (p.Ser48=) c.603C>A c.*95C>A (n.*95C>A) c.534C>A c.216C>A (p.Ser72=) c.99C>A (p.Ser33=) c.228C>A (p.Ser76=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.1858066C= | CA1757725877 | ARHGEF10 | c.144C= (p.Ser48=) c.603C= c.*95C= (n.*95C=) c.534C= c.216C= (p.Ser72=) c.99C= (p.Ser33=) c.228C= (p.Ser76=) | |
| 8 | g.1858066C>G | CA459054486 | ARHGEF10 | c.144C>G (p.Ser48=) c.603C>G c.*95C>G (n.*95C>G) c.534C>G c.216C>G (p.Ser72=) c.99C>G (p.Ser33=) c.228C>G (p.Ser76=) | |
| 8 | g.1858066C>T | CA4599605 | ARHGEF10 | c.144C>T (p.Ser48=) c.603C>T c.*95C>T (n.*95C>T) c.534C>T c.216C>T (p.Ser72=) c.99C>T (p.Ser33=) c.228C>T (p.Ser76=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.1858067G>A | CA4599606 | ARHGEF10 | c.145G>A (p.Ala49Thr) c.604G>A c.*96G>A (n.*96G>A) c.535G>A c.217G>A (p.Ala73Thr) c.100G>A (p.Ala34Thr) c.229G>A (p.Ala77Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1858067G>C | CA4599607 | ARHGEF10 | c.145G>C (p.Ala49Pro) c.604G>C c.*96G>C (n.*96G>C) c.535G>C c.217G>C (p.Ala73Pro) c.100G>C (p.Ala34Pro) c.229G>C (p.Ala77Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1858067G= | CA1757725882 | ARHGEF10 | c.145G= (p.Ala49=) c.604G= c.*96G= (n.*96G=) c.535G= c.217G= (p.Ala73=) c.100G= (p.Ala34=) c.229G= (p.Ala77=) | |
| 8 | g.1858067G>T | CA369954969 | ARHGEF10 | c.145G>T (p.Ala49Ser) c.604G>T c.*96G>T (n.*96G>T) c.535G>T c.217G>T (p.Ala73Ser) c.100G>T (p.Ala34Ser) c.229G>T (p.Ala77Ser) | gnomAD v4 |