Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.126615457_126615564del | CA2695211120 | LMX1B | c.214_321del (p.Asn72_Tyr107del) c.145_252del (p.Asn49_Tyr84del) | |
9 | g.126615502_126615547del | CA2580079539 | LMX1B | c.259_304del (p.Gln87ThrfsTer27) c.190_235del (p.Gln64ThrfsTer27) | ClinVar |
9 | g.126615527_126615532delinsACTTCC | CA1879436197 | LMX1B | c.284_289delinsACTTCC (p.Tyr95=) c.215_220delinsACTTCC (p.Tyr72=) | |
9 | g.126615528C>A | CA374910165 | LMX1B | c.285C>A (p.Tyr95Ter) c.216C>A (p.Tyr72Ter) | |
9 | g.126615528C>G | CA374910166 | LMX1B | c.285C>G (p.Tyr95Ter) c.216C>G (p.Tyr72Ter) | ClinVar dbSNP |
9 | g.126615528C>T | CA467136386 | LMX1B | c.285C>T (p.Tyr95=) c.216C>T (p.Tyr72=) | gnomAD v4 |
9 | g.126615528_126615532del | CA16603321 | LMX1B | c.285_289del (p.Tyr95Ter) c.216_220del (p.Tyr72Ter) | ClinVar dbSNP |
9 | g.126615529T>A | CA374910167 | LMX1B | c.286T>A (p.Phe96Ile) c.217T>A (p.Phe73Ile) | |
9 | g.126615529T>C | CA374910169 | LMX1B | c.286T>C (p.Phe96Leu) c.217T>C (p.Phe73Leu) | dbSNP gnomAD v4 |
9 | g.126615529T>G | CA374910168 | LMX1B | c.286T>G (p.Phe96Val) c.217T>G (p.Phe73Val) | |
9 | g.126615529T= | CA1879436198 | LMX1B | c.286T= (p.Phe96=) c.217T= (p.Phe73=) | |
9 | g.126615530T>A | CA374910170 | LMX1B | c.287T>A (p.Phe96Tyr) c.218T>A (p.Phe73Tyr) | |
9 | g.126615530T>C | CA374910171 | LMX1B | c.287T>C (p.Phe96Ser) c.218T>C (p.Phe73Ser) | |
9 | g.126615530T>G | CA5242257 | LMX1B | c.287T>G (p.Phe96Cys) c.218T>G (p.Phe73Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.126615530T= | CA1879436199 | LMX1B | c.287T= (p.Phe96=) c.218T= (p.Phe73=) | |
9 | g.126615531C>A | CA374910172 | LMX1B | c.288C>A (p.Phe96Leu) c.219C>A (p.Phe73Leu) | gnomAD v4 |
9 | g.126615531C>G | CA374910173 | LMX1B | c.288C>G (p.Phe96Leu) c.219C>G (p.Phe73Leu) | |
9 | g.126615531C>T | CA467136387 | LMX1B | c.288C>T (p.Phe96=) c.219C>T (p.Phe73=) | |
9 | g.126615532C>A | CA467136388 | LMX1B | c.289C>A (p.Arg97=) c.220C>A (p.Arg74=) | |
9 | g.126615532C= | CA1879436200 | LMX1B | c.289C= (p.Arg97=) c.220C= (p.Arg74=) | |
9 | g.126615532C>G | CA374910174 | LMX1B | c.289C>G (p.Arg97Gly) c.220C>G (p.Arg74Gly) | |
9 | g.126615532C>T | CA374910175 | LMX1B | c.289C>T (p.Arg97Trp) c.220C>T (p.Arg74Trp) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.126615532_126615534del | CA2573144037 | LMX1B | c.289_291del (p.Arg97del) c.220_222del (p.Arg74del) | ClinVar dbSNP |
9 | g.126615533G>A | CA374910176 | LMX1B | c.290G>A (p.Arg97Gln) c.221G>A (p.Arg74Gln) | |
9 | g.126615533G>C | CA374910177 | LMX1B | c.290G>C (p.Arg97Pro) c.221G>C (p.Arg74Pro) | |
9 | g.126615533G>T | CA374910178 | LMX1B | c.290G>T (p.Arg97Leu) c.221G>T (p.Arg74Leu) | |
9 | g.126615534G>A | CA467136392 | LMX1B | c.291G>A (p.Arg97=) c.222G>A (p.Arg74=) | dbSNP gnomAD v4 |
9 | g.126615534G>C | CA467136393 | LMX1B | c.291G>C (p.Arg97=) c.222G>C (p.Arg74=) | gnomAD v4 |
9 | g.126615534G= | CA1879436201 | LMX1B | c.291G= (p.Arg97=) c.222G= (p.Arg74=) | |
9 | g.126615534G>T | CA467136394 | LMX1B | c.291G>T (p.Arg97=) c.222G>T (p.Arg74=) | |
9 | g.126615535G>A | CA374910179 | LMX1B | c.292G>A (p.Asp98Asn) c.223G>A (p.Asp75Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.126615535G>C | CA374910180 | LMX1B | c.292G>C (p.Asp98His) c.223G>C (p.Asp75His) | |
9 | g.126615535G= | CA1879436202 | LMX1B | c.292G= (p.Asp98=) c.223G= (p.Asp75=) | |
9 | g.126615535G>T | CA374910181 | LMX1B | c.292G>T (p.Asp98Tyr) c.223G>T (p.Asp75Tyr) | |
9 | g.126615536A>C | CA374910184 | LMX1B | c.293A>C (p.Asp98Ala) c.224A>C (p.Asp75Ala) | |
9 | g.126615536A>G | CA374910182 | LMX1B | c.293A>G (p.Asp98Gly) c.224A>G (p.Asp75Gly) | |
9 | g.126615536A>T | CA374910183 | LMX1B | c.293A>T (p.Asp98Val) c.224A>T (p.Asp75Val) | |
9 | g.126615537T>A | CA374910185 | LMX1B | c.294T>A (p.Asp98Glu) c.225T>A (p.Asp75Glu) | |
9 | g.126615537T>C | CA467136399 | LMX1B | c.294T>C (p.Asp98=) c.225T>C (p.Asp75=) | |
9 | g.126615537T>G | CA374910186 | LMX1B | c.294T>G (p.Asp98Glu) c.225T>G (p.Asp75Glu) | |
9 | g.126615538C>A | CA5242258 | LMX1B | c.295C>A (p.Arg99=) c.226C>A (p.Arg76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.126615538C= | CA1879436203 | LMX1B | c.295C= (p.Arg99=) c.226C= (p.Arg76=) | |
9 | g.126615538C>G | CA374910187 | LMX1B | c.295C>G (p.Arg99Gly) c.226C>G (p.Arg76Gly) | |
9 | g.126615538C>T | CA374910188 | LMX1B | c.295C>T (p.Arg99Trp) c.226C>T (p.Arg76Trp) | |
9 | g.126615539G>A | CA374910189 | LMX1B | c.296G>A (p.Arg99Gln) c.227G>A (p.Arg76Gln) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.126615539G>C | CA374910190 | LMX1B | c.296G>C (p.Arg99Pro) c.227G>C (p.Arg76Pro) | |
9 | g.126615539G= | CA1879436204 | LMX1B | c.296G= (p.Arg99=) c.227G= (p.Arg76=) | |
9 | g.126615539G>T | CA374910191 | LMX1B | c.296G>T (p.Arg99Leu) c.227G>T (p.Arg76Leu) | |
9 | g.126615540del | CA2499219612 | LMX1B | c.297del (p.Lys100AsnfsTer29) c.228del (p.Lys77AsnfsTer29) | ClinVar dbSNP |
9 | g.126615540G>A | CA467136402 | LMX1B | c.297G>A (p.Arg99=) c.228G>A (p.Arg76=) |