| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128400828G>A | CA124376 | IMPDH1 | c.460C>T (p.Arg154Trp) n.424C>T c.568C>T (p.Arg190Trp) c.211+4C>T c.538C>T (p.Arg180Trp) c.469C>T (p.Arg157Trp) c.314C>T c.313C>T (p.Arg105Trp) c.309+4C>T (n.309+4C>T) c.424C>T (p.Arg142Trp) c.297+187C>T (n.297+187C>T) n.737C>T c.249+187C>T (n.249+187C>T) n.388C>T c.361C>T (p.Arg121Trp) c.337C>T (p.Arg113Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128400828G>C | CA369174088 | IMPDH1 | c.460C>G (p.Arg154Gly) n.424C>G c.568C>G (p.Arg190Gly) c.211+4C>G c.538C>G (p.Arg180Gly) c.469C>G (p.Arg157Gly) c.314C>G c.313C>G (p.Arg105Gly) c.309+4C>G (n.309+4C>G) c.424C>G (p.Arg142Gly) c.297+187C>G (n.297+187C>G) n.737C>G c.249+187C>G (n.249+187C>G) n.388C>G c.361C>G (p.Arg121Gly) c.337C>G (p.Arg113Gly) | gnomAD v4 |
| 7 | g.128400828G= | CA1742334245 | IMPDH1 | c.460C= (p.Arg154=) n.424C= c.568C= (p.Arg190=) c.211+4C= c.538C= (p.Arg180=) c.469C= (p.Arg157=) c.314C= c.313C= (p.Arg105=) c.309+4C= (n.309+4C=) c.424C= (p.Arg142=) c.297+187C= (n.297+187C=) n.737C= c.249+187C= (n.249+187C=) n.388C= c.361C= (p.Arg121=) c.337C= (p.Arg113=) | |
| 7 | g.128400828G>T | CA457528439 | IMPDH1 | c.460C>A (p.Arg154=) n.424C>A c.568C>A (p.Arg190=) c.211+4C>A c.538C>A (p.Arg180=) c.469C>A (p.Arg157=) c.314C>A c.313C>A (p.Arg105=) c.309+4C>A (n.309+4C>A) c.424C>A (p.Arg142=) c.297+187C>A (n.297+187C>A) n.737C>A c.249+187C>A (n.249+187C>A) n.388C>A c.361C>A (p.Arg121=) c.337C>A (p.Arg113=) | |
| 7 | g.128400829C>A | CA457528440 | IMPDH1 | c.459G>T (p.Val153=) n.423G>T c.567G>T (p.Val189=) c.211+3G>T c.537G>T (p.Val179=) c.468G>T (p.Val156=) c.313G>T c.312G>T (p.Val104=) c.309+3G>T (n.309+3G>T) c.423G>T (p.Val141=) c.297+186G>T (n.297+186G>T) n.736G>T c.249+186G>T (n.249+186G>T) n.387G>T c.360G>T (p.Val120=) c.336G>T (p.Val112=) | |
| 7 | g.128400829C= | CA1742334250 | IMPDH1 | c.459G= (p.Val153=) n.423G= c.567G= (p.Val189=) c.211+3G= c.537G= (p.Val179=) c.468G= (p.Val156=) c.313G= c.312G= (p.Val104=) c.309+3G= (n.309+3G=) c.423G= (p.Val141=) c.297+186G= (n.297+186G=) n.736G= c.249+186G= (n.249+186G=) n.387G= c.360G= (p.Val120=) c.336G= (p.Val112=) | |
| 7 | g.128400829C>G | CA457528444 | IMPDH1 | c.459G>C (p.Val153=) n.423G>C c.567G>C (p.Val189=) c.211+3G>C c.537G>C (p.Val179=) c.468G>C (p.Val156=) c.313G>C c.312G>C (p.Val104=) c.309+3G>C (n.309+3G>C) c.423G>C (p.Val141=) c.297+186G>C (n.297+186G>C) n.736G>C c.249+186G>C (n.249+186G>C) n.387G>C c.360G>C (p.Val120=) c.336G>C (p.Val112=) | |
| 7 | g.128400829C>T | CA166129193 | IMPDH1 | c.459G>A (p.Val153=) n.423G>A c.567G>A (p.Val189=) c.211+3G>A c.537G>A (p.Val179=) c.468G>A (p.Val156=) c.313G>A c.312G>A (p.Val104=) c.309+3G>A (n.309+3G>A) c.423G>A (p.Val141=) c.297+186G>A (n.297+186G>A) n.736G>A c.249+186G>A (n.249+186G>A) n.387G>A c.360G>A (p.Val120=) c.336G>A (p.Val112=) | dbSNP gnomAD v4 |
| 7 | g.128400830A>C | CA369174089 | IMPDH1 | c.458T>G (p.Val153Gly) n.422T>G c.566T>G (p.Val189Gly) c.211+2T>G c.536T>G (p.Val179Gly) c.467T>G (p.Val156Gly) c.312T>G c.311T>G (p.Val104Gly) c.309+2T>G (n.309+2T>G) c.422T>G (p.Val141Gly) c.297+185T>G (n.297+185T>G) n.735T>G c.249+185T>G (n.249+185T>G) n.386T>G c.359T>G (p.Val120Gly) c.335T>G (p.Val112Gly) | |
| 7 | g.128400830A>G | CA369174090 | IMPDH1 | c.458T>C (p.Val153Ala) n.422T>C c.566T>C (p.Val189Ala) c.211+2T>C c.536T>C (p.Val179Ala) c.467T>C (p.Val156Ala) c.312T>C c.311T>C (p.Val104Ala) c.309+2T>C (n.309+2T>C) c.422T>C (p.Val141Ala) c.297+185T>C (n.297+185T>C) n.735T>C c.249+185T>C (n.249+185T>C) n.386T>C c.359T>C (p.Val120Ala) c.335T>C (p.Val112Ala) | |
| 7 | g.128400830A>T | CA369174091 | IMPDH1 | c.458T>A (p.Val153Glu) n.422T>A c.566T>A (p.Val189Glu) c.211+2T>A c.536T>A (p.Val179Glu) c.467T>A (p.Val156Glu) c.312T>A c.311T>A (p.Val104Glu) c.309+2T>A (n.309+2T>A) c.422T>A (p.Val141Glu) c.297+185T>A (n.297+185T>A) n.735T>A c.249+185T>A (n.249+185T>A) n.386T>A c.359T>A (p.Val120Glu) c.335T>A (p.Val112Glu) | |
| 7 | g.128400831C>A | CA369174092 | IMPDH1 | c.457G>T (p.Val153Leu) n.421G>T c.565G>T (p.Val189Leu) c.211+1G>T c.535G>T (p.Val179Leu) c.466G>T (p.Val156Leu) c.311G>T c.310G>T (p.Val104Leu) c.309+1G>T (n.309+1G>T) c.421G>T (p.Val141Leu) c.297+184G>T (n.297+184G>T) n.734G>T c.249+184G>T (n.249+184G>T) n.385G>T c.358G>T (p.Val120Leu) c.334G>T (p.Val112Leu) | gnomAD v4 |
| 7 | g.128400831C>G | CA369174094 | IMPDH1 | c.457G>C (p.Val153Leu) n.421G>C c.565G>C (p.Val189Leu) c.211+1G>C c.535G>C (p.Val179Leu) c.466G>C (p.Val156Leu) c.311G>C c.310G>C (p.Val104Leu) c.309+1G>C (n.309+1G>C) c.421G>C (p.Val141Leu) c.297+184G>C (n.297+184G>C) n.734G>C c.249+184G>C (n.249+184G>C) n.385G>C c.358G>C (p.Val120Leu) c.334G>C (p.Val112Leu) | |
| 7 | g.128400831C>T | CA369174093 | IMPDH1 | c.457G>A (p.Val153Met) n.421G>A c.565G>A (p.Val189Met) c.211+1G>A c.535G>A (p.Val179Met) c.466G>A (p.Val156Met) c.311G>A c.310G>A (p.Val104Met) c.309+1G>A (n.309+1G>A) c.421G>A (p.Val141Met) c.297+184G>A (n.297+184G>A) n.734G>A c.249+184G>A (n.249+184G>A) n.385G>A c.358G>A (p.Val120Met) c.334G>A (p.Val112Met) | |
| 7 | g.128400832C>A | CA369174095 | IMPDH1 | c.456G>T (p.Glu152Asp) n.420G>T c.564G>T (p.Glu188Asp) c.211G>T c.534G>T (p.Glu178Asp) c.465G>T (p.Glu155Asp) c.310G>T c.309G>T (p.Glu103Asp) c.420G>T (p.Glu140Asp) c.297+183G>T (n.297+183G>T) n.733G>T c.249+183G>T (n.249+183G>T) n.384G>T c.357G>T (p.Glu119Asp) c.333G>T (p.Glu111Asp) | |
| 7 | g.128400832C= | CA1742334255 | IMPDH1 | c.456G= (p.Glu152=) n.420G= c.564G= (p.Glu188=) c.211G= c.534G= (p.Glu178=) c.465G= (p.Glu155=) c.310G= c.309G= (p.Glu103=) c.420G= (p.Glu140=) c.297+183G= (n.297+183G=) n.733G= c.249+183G= (n.249+183G=) n.384G= c.357G= (p.Glu119=) c.333G= (p.Glu111=) | |
| 7 | g.128400832C>G | CA369174096 | IMPDH1 | c.456G>C (p.Glu152Asp) n.420G>C c.564G>C (p.Glu188Asp) c.211G>C c.534G>C (p.Glu178Asp) c.465G>C (p.Glu155Asp) c.310G>C c.309G>C (p.Glu103Asp) c.420G>C (p.Glu140Asp) c.297+183G>C (n.297+183G>C) n.733G>C c.249+183G>C (n.249+183G>C) n.384G>C c.357G>C (p.Glu119Asp) c.333G>C (p.Glu111Asp) | |
| 7 | g.128400832C>T | CA457528448 | IMPDH1 | c.456G>A (p.Glu152=) n.420G>A c.564G>A (p.Glu188=) c.211G>A c.534G>A (p.Glu178=) c.465G>A (p.Glu155=) c.310G>A c.309G>A (p.Glu103=) c.420G>A (p.Glu140=) c.297+183G>A (n.297+183G>A) n.733G>A c.249+183G>A (n.249+183G>A) n.384G>A c.357G>A (p.Glu119=) c.333G>A (p.Glu111=) | ClinVar dbSNP |
| 7 | g.128400833T>A | CA369174097 | IMPDH1 | c.455A>T (p.Glu152Val) n.419A>T c.563A>T (p.Glu188Val) c.210A>T c.533A>T (p.Glu178Val) c.464A>T (p.Glu155Val) c.309A>T c.308A>T (p.Glu103Val) c.419A>T (p.Glu140Val) c.297+182A>T (n.297+182A>T) n.732A>T c.249+182A>T (n.249+182A>T) n.383A>T c.356A>T (p.Glu119Val) c.332A>T (p.Glu111Val) | |
| 7 | g.128400833T>C | CA369174099 | IMPDH1 | c.455A>G (p.Glu152Gly) n.419A>G c.563A>G (p.Glu188Gly) c.210A>G c.533A>G (p.Glu178Gly) c.464A>G (p.Glu155Gly) c.309A>G c.308A>G (p.Glu103Gly) c.419A>G (p.Glu140Gly) c.297+182A>G (n.297+182A>G) n.732A>G c.249+182A>G (n.249+182A>G) n.383A>G c.356A>G (p.Glu119Gly) c.332A>G (p.Glu111Gly) | gnomAD v4 |
| 7 | g.128400833T>G | CA369174098 | IMPDH1 | c.455A>C (p.Glu152Ala) n.419A>C c.563A>C (p.Glu188Ala) c.210A>C c.533A>C (p.Glu178Ala) c.464A>C (p.Glu155Ala) c.309A>C c.308A>C (p.Glu103Ala) c.419A>C (p.Glu140Ala) c.297+182A>C (n.297+182A>C) n.732A>C c.249+182A>C (n.249+182A>C) n.383A>C c.356A>C (p.Glu119Ala) c.332A>C (p.Glu111Ala) | |
| 7 | g.128400834C>A | CA369174100 | IMPDH1 | c.454G>T (p.Glu152Ter) n.418G>T c.562G>T (p.Glu188Ter) c.209G>T c.532G>T (p.Glu178Ter) c.463G>T (p.Glu155Ter) c.308G>T c.307G>T (p.Glu103Ter) c.418G>T (p.Glu140Ter) c.297+181G>T (n.297+181G>T) n.731G>T c.249+181G>T (n.249+181G>T) n.382G>T c.355G>T (p.Glu119Ter) c.331G>T (p.Glu111Ter) | |
| 7 | g.128400834C>G | CA369174101 | IMPDH1 | c.454G>C (p.Glu152Gln) n.418G>C c.562G>C (p.Glu188Gln) c.209G>C c.532G>C (p.Glu178Gln) c.463G>C (p.Glu155Gln) c.308G>C c.307G>C (p.Glu103Gln) c.418G>C (p.Glu140Gln) c.297+181G>C (n.297+181G>C) n.731G>C c.249+181G>C (n.249+181G>C) n.382G>C c.355G>C (p.Glu119Gln) c.331G>C (p.Glu111Gln) | |
| 7 | g.128400834C>T | CA369174102 | IMPDH1 | c.454G>A (p.Glu152Lys) n.418G>A c.562G>A (p.Glu188Lys) c.209G>A c.532G>A (p.Glu178Lys) c.463G>A (p.Glu155Lys) c.308G>A c.307G>A (p.Glu103Lys) c.418G>A (p.Glu140Lys) c.297+181G>A (n.297+181G>A) n.731G>A c.249+181G>A (n.249+181G>A) n.382G>A c.355G>A (p.Glu119Lys) c.331G>A (p.Glu111Lys) | gnomAD v4 COSMIC |
| 7 | g.128400835G>A | CA4471124 | IMPDH1 | c.453C>T (p.Asn151=) n.417C>T c.561C>T (p.Asn187=) c.208C>T c.531C>T (p.Asn177=) c.462C>T (p.Asn154=) c.307C>T c.306C>T (p.Asn102=) c.417C>T (p.Asn139=) c.297+180C>T (n.297+180C>T) n.730C>T c.249+180C>T (n.249+180C>T) n.381C>T c.354C>T (p.Asn118=) c.330C>T (p.Asn110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128400835G>C | CA369174104 | IMPDH1 | c.453C>G (p.Asn151Lys) n.417C>G c.561C>G (p.Asn187Lys) c.208C>G c.531C>G (p.Asn177Lys) c.462C>G (p.Asn154Lys) c.307C>G c.306C>G (p.Asn102Lys) c.417C>G (p.Asn139Lys) c.297+180C>G (n.297+180C>G) n.730C>G c.249+180C>G (n.249+180C>G) n.381C>G c.354C>G (p.Asn118Lys) c.330C>G (p.Asn110Lys) | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.128400835G= | CA1742334267 | IMPDH1 | c.453C= (p.Asn151=) n.417C= c.561C= (p.Asn187=) c.208C= c.531C= (p.Asn177=) c.462C= (p.Asn154=) c.307C= c.306C= (p.Asn102=) c.417C= (p.Asn139=) c.297+180C= (n.297+180C=) n.730C= c.249+180C= (n.249+180C=) n.381C= c.354C= (p.Asn118=) c.330C= (p.Asn110=) | |
| 7 | g.128400835G>T | CA369174105 | IMPDH1 | c.453C>A (p.Asn151Lys) n.417C>A c.561C>A (p.Asn187Lys) c.208C>A c.531C>A (p.Asn177Lys) c.462C>A (p.Asn154Lys) c.307C>A c.306C>A (p.Asn102Lys) c.417C>A (p.Asn139Lys) c.297+180C>A (n.297+180C>A) n.730C>A c.249+180C>A (n.249+180C>A) n.381C>A c.354C>A (p.Asn118Lys) c.330C>A (p.Asn110Lys) | dbSNP |
| 7 | g.128400836_128400838del | CA2536936844 | IMPDH1 | c.451_453del (p.Asn151del) n.415_417del c.559_561del (p.Asn187del) c.206_208del c.529_531del (p.Asn177del) c.460_462del (p.Asn154del) c.305_307del c.304_306del (p.Asn102del) c.415_417del (p.Asn139del) c.297+178_297+180del (n.297+178_297+180del) n.728_730del c.249+178_249+180del (n.249+178_249+180del) n.379_381del c.352_354del (p.Asn118del) c.328_330del (p.Asn110del) | |
| 7 | g.128400836T>A | CA369174106 | IMPDH1 | c.452A>T (p.Asn151Ile) n.416A>T c.560A>T (p.Asn187Ile) c.207A>T c.530A>T (p.Asn177Ile) c.461A>T (p.Asn154Ile) c.306A>T c.305A>T (p.Asn102Ile) c.416A>T (p.Asn139Ile) c.297+179A>T (n.297+179A>T) n.729A>T c.249+179A>T (n.249+179A>T) n.380A>T c.353A>T (p.Asn118Ile) c.329A>T (p.Asn110Ile) | |
| 7 | g.128400836T>C | CA369174107 | IMPDH1 | c.452A>G (p.Asn151Ser) n.416A>G c.560A>G (p.Asn187Ser) c.207A>G c.530A>G (p.Asn177Ser) c.461A>G (p.Asn154Ser) c.306A>G c.305A>G (p.Asn102Ser) c.416A>G (p.Asn139Ser) c.297+179A>G (n.297+179A>G) n.729A>G c.249+179A>G (n.249+179A>G) n.380A>G c.353A>G (p.Asn118Ser) c.329A>G (p.Asn110Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.128400836T>G | CA369174108 | IMPDH1 | c.452A>C (p.Asn151Thr) n.416A>C c.560A>C (p.Asn187Thr) c.207A>C c.530A>C (p.Asn177Thr) c.461A>C (p.Asn154Thr) c.306A>C c.305A>C (p.Asn102Thr) c.416A>C (p.Asn139Thr) c.297+179A>C (n.297+179A>C) n.729A>C c.249+179A>C (n.249+179A>C) n.380A>C c.353A>C (p.Asn118Thr) c.329A>C (p.Asn110Thr) | |
| 7 | g.128400836T= | CA1742334272 | IMPDH1 | c.452A= (p.Asn151=) n.416A= c.560A= (p.Asn187=) c.207A= c.530A= (p.Asn177=) c.461A= (p.Asn154=) c.306A= c.305A= (p.Asn102=) c.416A= (p.Asn139=) c.297+179A= (n.297+179A=) n.729A= c.249+179A= (n.249+179A=) n.380A= c.353A= (p.Asn118=) c.329A= (p.Asn110=) | |
| 7 | g.128400837T>A | CA369174109 | IMPDH1 | c.451A>T (p.Asn151Tyr) n.415A>T c.559A>T (p.Asn187Tyr) c.206A>T c.529A>T (p.Asn177Tyr) c.460A>T (p.Asn154Tyr) c.305A>T c.304A>T (p.Asn102Tyr) c.415A>T (p.Asn139Tyr) c.297+178A>T (n.297+178A>T) n.728A>T c.249+178A>T (n.249+178A>T) n.379A>T c.352A>T (p.Asn118Tyr) c.328A>T (p.Asn110Tyr) | |
| 7 | g.128400837T>C | CA369174110 | IMPDH1 | c.451A>G (p.Asn151Asp) n.415A>G c.559A>G (p.Asn187Asp) c.206A>G c.529A>G (p.Asn177Asp) c.460A>G (p.Asn154Asp) c.305A>G c.304A>G (p.Asn102Asp) c.415A>G (p.Asn139Asp) c.297+178A>G (n.297+178A>G) n.728A>G c.249+178A>G (n.249+178A>G) n.379A>G c.352A>G (p.Asn118Asp) c.328A>G (p.Asn110Asp) | dbSNP |
| 7 | g.128400837T>G | CA369174111 | IMPDH1 | c.451A>C (p.Asn151His) n.415A>C c.559A>C (p.Asn187His) c.206A>C c.529A>C (p.Asn177His) c.460A>C (p.Asn154His) c.305A>C c.304A>C (p.Asn102His) c.415A>C (p.Asn139His) c.297+178A>C (n.297+178A>C) n.728A>C c.249+178A>C (n.249+178A>C) n.379A>C c.352A>C (p.Asn118His) c.328A>C (p.Asn110His) | |
| 7 | g.128400837T= | CA1742334275 | IMPDH1 | c.451A= (p.Asn151=) n.415A= c.559A= (p.Asn187=) c.206A= c.529A= (p.Asn177=) c.460A= (p.Asn154=) c.305A= c.304A= (p.Asn102=) c.415A= (p.Asn139=) c.297+178A= (n.297+178A=) n.728A= c.249+178A= (n.249+178A=) n.379A= c.352A= (p.Asn118=) c.328A= (p.Asn110=) | |
| 7 | g.128400838G>A | CA4471125 | IMPDH1 | c.450C>T (p.Ala150=) n.414C>T c.558C>T (p.Ala186=) c.205C>T c.528C>T (p.Ala176=) c.459C>T (p.Ala153=) c.304C>T c.303C>T (p.Ala101=) c.414C>T (p.Ala138=) c.297+177C>T (n.297+177C>T) n.727C>T c.249+177C>T (n.249+177C>T) n.378C>T c.351C>T (p.Ala117=) c.327C>T (p.Ala109=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.128400838G>C | CA457528455 | IMPDH1 | c.450C>G (p.Ala150=) n.414C>G c.558C>G (p.Ala186=) c.205C>G c.528C>G (p.Ala176=) c.459C>G (p.Ala153=) c.304C>G c.303C>G (p.Ala101=) c.414C>G (p.Ala138=) c.297+177C>G (n.297+177C>G) n.727C>G c.249+177C>G (n.249+177C>G) n.378C>G c.351C>G (p.Ala117=) c.327C>G (p.Ala109=) | |
| 7 | g.128400838G= | CA1742334279 | IMPDH1 | c.450C= (p.Ala150=) n.414C= c.558C= (p.Ala186=) c.205C= c.528C= (p.Ala176=) c.459C= (p.Ala153=) c.304C= c.303C= (p.Ala101=) c.414C= (p.Ala138=) c.297+177C= (n.297+177C=) n.727C= c.249+177C= (n.249+177C=) n.378C= c.351C= (p.Ala117=) c.327C= (p.Ala109=) | |
| 7 | g.128400838G>T | CA457528456 | IMPDH1 | c.450C>A (p.Ala150=) n.414C>A c.558C>A (p.Ala186=) c.205C>A c.528C>A (p.Ala176=) c.459C>A (p.Ala153=) c.304C>A c.303C>A (p.Ala101=) c.414C>A (p.Ala138=) c.297+177C>A (n.297+177C>A) n.727C>A c.249+177C>A (n.249+177C>A) n.378C>A c.351C>A (p.Ala117=) c.327C>A (p.Ala109=) | |
| 7 | g.128400839G>A | CA369174112 | IMPDH1 | c.449C>T (p.Ala150Val) n.413C>T c.557C>T (p.Ala186Val) c.204C>T c.527C>T (p.Ala176Val) c.458C>T (p.Ala153Val) c.303C>T c.302C>T (p.Ala101Val) c.413C>T (p.Ala138Val) c.297+176C>T (n.297+176C>T) n.726C>T c.249+176C>T (n.249+176C>T) n.377C>T c.350C>T (p.Ala117Val) c.326C>T (p.Ala109Val) | |
| 7 | g.128400839G>C | CA369174113 | IMPDH1 | c.449C>G (p.Ala150Gly) n.413C>G c.557C>G (p.Ala186Gly) c.204C>G c.527C>G (p.Ala176Gly) c.458C>G (p.Ala153Gly) c.303C>G c.302C>G (p.Ala101Gly) c.413C>G (p.Ala138Gly) c.297+176C>G (n.297+176C>G) n.726C>G c.249+176C>G (n.249+176C>G) n.377C>G c.350C>G (p.Ala117Gly) c.326C>G (p.Ala109Gly) | |
| 7 | g.128400839G>T | CA369174114 | IMPDH1 | c.449C>A (p.Ala150Asp) n.413C>A c.557C>A (p.Ala186Asp) c.204C>A c.527C>A (p.Ala176Asp) c.458C>A (p.Ala153Asp) c.303C>A c.302C>A (p.Ala101Asp) c.413C>A (p.Ala138Asp) c.297+176C>A (n.297+176C>A) n.726C>A c.249+176C>A (n.249+176C>A) n.377C>A c.350C>A (p.Ala117Asp) c.326C>A (p.Ala109Asp) | |
| 7 | g.128400840C>A | CA369174115 | IMPDH1 | c.448G>T (p.Ala150Ser) n.412G>T c.556G>T (p.Ala186Ser) c.203G>T c.526G>T (p.Ala176Ser) c.457G>T (p.Ala153Ser) c.302G>T c.301G>T (p.Ala101Ser) c.412G>T (p.Ala138Ser) c.297+175G>T (n.297+175G>T) n.725G>T c.249+175G>T (n.249+175G>T) n.376G>T c.349G>T (p.Ala117Ser) c.325G>T (p.Ala109Ser) | |
| 7 | g.128400840C>G | CA369174116 | IMPDH1 | c.448G>C (p.Ala150Pro) n.412G>C c.556G>C (p.Ala186Pro) c.203G>C c.526G>C (p.Ala176Pro) c.457G>C (p.Ala153Pro) c.302G>C c.301G>C (p.Ala101Pro) c.412G>C (p.Ala138Pro) c.297+175G>C (n.297+175G>C) n.725G>C c.249+175G>C (n.249+175G>C) n.376G>C c.349G>C (p.Ala117Pro) c.325G>C (p.Ala109Pro) | |
| 7 | g.128400840C>T | CA369174117 | IMPDH1 | c.448G>A (p.Ala150Thr) n.412G>A c.556G>A (p.Ala186Thr) c.203G>A c.526G>A (p.Ala176Thr) c.457G>A (p.Ala153Thr) c.302G>A c.301G>A (p.Ala101Thr) c.412G>A (p.Ala138Thr) c.297+175G>A (n.297+175G>A) n.725G>A c.249+175G>A (n.249+175G>A) n.376G>A c.349G>A (p.Ala117Thr) c.325G>A (p.Ala109Thr) | gnomAD v4 |
| 7 | g.128400841C>A | CA369174118 | IMPDH1 | c.447G>T (p.Gln149His) n.411G>T c.555G>T (p.Gln185His) c.202G>T c.525G>T (p.Gln175His) c.456G>T (p.Gln152His) c.301G>T c.300G>T (p.Gln100His) c.411G>T (p.Gln137His) c.297+174G>T (n.297+174G>T) n.724G>T c.249+174G>T (n.249+174G>T) n.375G>T c.348G>T (p.Gln116His) c.324G>T (p.Gln108His) | |
| 7 | g.128400841C>G | CA369174119 | IMPDH1 | c.447G>C (p.Gln149His) n.411G>C c.555G>C (p.Gln185His) c.202G>C c.525G>C (p.Gln175His) c.456G>C (p.Gln152His) c.301G>C c.300G>C (p.Gln100His) c.411G>C (p.Gln137His) c.297+174G>C (n.297+174G>C) n.724G>C c.249+174G>C (n.249+174G>C) n.375G>C c.348G>C (p.Gln116His) c.324G>C (p.Gln108His) | |
| 7 | g.128400841C>T | CA457528459 | IMPDH1 | c.447G>A (p.Gln149=) n.411G>A c.555G>A (p.Gln185=) c.202G>A c.525G>A (p.Gln175=) c.456G>A (p.Gln152=) c.301G>A c.300G>A (p.Gln100=) c.411G>A (p.Gln137=) c.297+174G>A (n.297+174G>A) n.724G>A c.249+174G>A (n.249+174G>A) n.375G>A c.348G>A (p.Gln116=) c.324G>A (p.Gln108=) |