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 |
|---|---|---|---|---|---|
| 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.126615527A>C | CA374910162 | LMX1B | c.284A>C (p.Tyr95Ser) c.215A>C (p.Tyr72Ser) | |
| 9 | g.126615527A>G | CA374910163 | LMX1B | c.284A>G (p.Tyr95Cys) c.215A>G (p.Tyr72Cys) | |
| 9 | g.126615527A>T | CA374910164 | LMX1B | c.284A>T (p.Tyr95Phe) c.215A>T (p.Tyr72Phe) | |
| 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=) | |
| 9 | g.126615540G>C | CA467136400 | LMX1B | c.297G>C (p.Arg99=) c.228G>C (p.Arg76=) | |
| 9 | g.126615540G>T | CA467136401 | LMX1B | c.297G>T (p.Arg99=) c.228G>T (p.Arg76=) | gnomAD v4 |
| 9 | g.126615541A>C | CA374910192 | LMX1B | c.298A>C (p.Lys100Gln) c.229A>C (p.Lys77Gln) | |
| 9 | g.126615541A>G | CA374910193 | LMX1B | c.298A>G (p.Lys100Glu) c.229A>G (p.Lys77Glu) | |
| 9 | g.126615541A>T | CA374910194 | LMX1B | c.298A>T (p.Lys100Ter) c.229A>T (p.Lys77Ter) | |
| 9 | g.126615542A>C | CA374910197 | LMX1B | c.299A>C (p.Lys100Thr) c.230A>C (p.Lys77Thr) | gnomAD v4 |
| 9 | g.126615542A>G | CA374910196 | LMX1B | c.299A>G (p.Lys100Arg) c.230A>G (p.Lys77Arg) | |
| 9 | g.126615542A>T | CA374910195 | LMX1B | c.299A>T (p.Lys100Ile) c.230A>T (p.Lys77Ile) | |
| 9 | g.126615543A>C | CA374910198 | LMX1B | c.300A>C (p.Lys100Asn) c.231A>C (p.Lys77Asn) | |
| 9 | g.126615543A>G | CA467136403 | LMX1B | c.300A>G (p.Lys100=) c.231A>G (p.Lys77=) | gnomAD v4 |
| 9 | g.126615543A>T | CA374910199 | LMX1B | c.300A>T (p.Lys100Asn) c.231A>T (p.Lys77Asn) | |
| 9 | g.126615544C>A | CA374910200 | LMX1B | c.301C>A (p.Leu101Met) c.232C>A (p.Leu78Met) | |
| 9 | g.126615544C>G | CA374910201 | LMX1B | c.301C>G (p.Leu101Val) c.232C>G (p.Leu78Val) | |
| 9 | g.126615544C>T | CA467136404 | LMX1B | c.301C>T (p.Leu101=) c.232C>T (p.Leu78=) | |
| 9 | g.126615544_126615546delinsCTG | CA1879436205 | LMX1B | c.301_303delinsCTG (p.Leu101=) c.232_234delinsCTG (p.Leu78=) | |
| 9 | g.126615545T>A | CA374910202 | LMX1B | c.302T>A (p.Leu101Gln) c.233T>A (p.Leu78Gln) | |
| 9 | g.126615545T>C | CA374910204 | LMX1B | c.302T>C (p.Leu101Pro) c.233T>C (p.Leu78Pro) | |
| 9 | g.126615545T>G | CA374910203 | LMX1B | c.302T>G (p.Leu101Arg) c.233T>G (p.Leu78Arg) | |
| 9 | g.126615546_126615547del | CA590568532 | LMX1B | c.303_304del (p.Tyr102LeufsTer?) c.234_235del (p.Tyr79LeufsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615546G>A | CA467136405 | LMX1B | c.303G>A (p.Leu101=) c.234G>A (p.Leu78=) | |
| 9 | g.126615546G>C | CA467136406 | LMX1B | c.303G>C (p.Leu101=) c.234G>C (p.Leu78=) | |
| 9 | g.126615546G>T | CA467136407 | LMX1B | c.303G>T (p.Leu101=) c.234G>T (p.Leu78=) | gnomAD v4 |
| 9 | g.126615547T>A | CA374910205 | LMX1B | c.304T>A (p.Tyr102Asn) c.235T>A (p.Tyr79Asn) | |
| 9 | g.126615547T>C | CA374910207 | LMX1B | c.304T>C (p.Tyr102His) c.235T>C (p.Tyr79His) | |
| 9 | g.126615547T>G | CA374910206 | LMX1B | c.304T>G (p.Tyr102Asp) c.235T>G (p.Tyr79Asp) | |
| 9 | g.126615548A= | CA1879436206 | LMX1B | c.305A= (p.Tyr102=) c.236A= (p.Tyr79=) | |
| 9 | g.126615548A>C | CA374910208 | LMX1B | c.305A>C (p.Tyr102Ser) c.236A>C (p.Tyr79Ser) | |
| 9 | g.126615548A>G | CA374910210 | LMX1B | c.305A>G (p.Tyr102Cys) c.236A>G (p.Tyr79Cys) | ClinVar dbSNP |
| 9 | g.126615548A>T | CA374910209 | LMX1B | c.305A>T (p.Tyr102Phe) c.236A>T (p.Tyr79Phe) | |
| 9 | g.126615549C>A | CA374910211 | LMX1B | c.306C>A (p.Tyr102Ter) c.237C>A (p.Tyr79Ter) | |
| 9 | g.126615549C= | CA1879436207 | LMX1B | c.306C= (p.Tyr102=) c.237C= (p.Tyr79=) | |
| 9 | g.126615549C>G | CA339745 | LMX1B | c.306C>G (p.Tyr102Ter) c.237C>G (p.Tyr79Ter) | ClinVar dbSNP |
| 9 | g.126615549C>T | CA467136408 | LMX1B | c.306C>T (p.Tyr102=) c.237C>T (p.Tyr79=) | |
| 9 | g.126615550T>A | CA374910212 | LMX1B | c.307T>A (p.Cys103Ser) c.238T>A (p.Cys80Ser) | |
| 9 | g.126615550T>C | CA374910214 | LMX1B | c.307T>C (p.Cys103Arg) c.238T>C (p.Cys80Arg) | |
| 9 | g.126615550T>G | CA374910213 | LMX1B | c.307T>G (p.Cys103Gly) c.238T>G (p.Cys80Gly) | |
| 9 | g.126615551G>A | CA374910215 | LMX1B | c.308G>A (p.Cys103Tyr) c.239G>A (p.Cys80Tyr) | gnomAD v4 |
| 9 | g.126615551G>C | CA374910217 | LMX1B | c.308G>C (p.Cys103Ser) c.239G>C (p.Cys80Ser) | |
| 9 | g.126615551G>T | CA374910216 | LMX1B | c.308G>T (p.Cys103Phe) c.239G>T (p.Cys80Phe) | COSMIC COSMIC COSMIC |
| 9 | g.126615552C>A | CA374910218 | LMX1B | c.309C>A (p.Cys103Ter) c.240C>A (p.Cys80Ter) | |
| 9 | g.126615552C>G | CA374910219 | LMX1B | c.309C>G (p.Cys103Trp) c.240C>G (p.Cys80Trp) | |
| 9 | g.126615552C>T | CA467136409 | LMX1B | c.309C>T (p.Cys103=) c.240C>T (p.Cys80=) | |
| 9 | g.126615553A>C | CA374910220 | LMX1B | c.310A>C (p.Lys104Gln) c.241A>C (p.Lys81Gln) | |
| 9 | g.126615553A>G | CA374910221 | LMX1B | c.310A>G (p.Lys104Glu) c.241A>G (p.Lys81Glu) | |
| 9 | g.126615553A>T | CA374910222 | LMX1B | c.310A>T (p.Lys104Ter) c.241A>T (p.Lys81Ter) | |
| 9 | g.126615555dup | CA2695211129 | LMX1B | c.312dup (p.Gln105ThrfsTer?) c.243dup (p.Gln82ThrfsTer?) | |
| 9 | g.126615555del | CA2695211128 | LMX1B | c.312del (p.Lys104AsnfsTer25) c.243del (p.Lys81AsnfsTer25) | |
| 9 | g.126615554A= | CA1879436208 | LMX1B | c.311A= (p.Lys104=) c.242A= (p.Lys81=) | |
| 9 | g.126615554A>C | CA374910223 | LMX1B | c.311A>C (p.Lys104Thr) c.242A>C (p.Lys81Thr) | |
| 9 | g.126615554A>G | CA374910224 | LMX1B | c.311A>G (p.Lys104Arg) c.242A>G (p.Lys81Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615554A>T | CA374910225 | LMX1B | c.311A>T (p.Lys104Ile) c.242A>T (p.Lys81Ile) | |
| 9 | g.126615555A>C | CA374910226 | LMX1B | c.312A>C (p.Lys104Asn) c.243A>C (p.Lys81Asn) | |
| 9 | g.126615555A>G | CA467136410 | LMX1B | c.312A>G (p.Lys104=) c.243A>G (p.Lys81=) | |
| 9 | g.126615555A>T | CA374910227 | LMX1B | c.312A>T (p.Lys104Asn) c.243A>T (p.Lys81Asn) | |
| 9 | g.126615556del | CA2695211130 | LMX1B | c.313del (p.Gln105LysfsTer24) c.244del (p.Gln82LysfsTer24) | |
| 9 | g.126615556C>A | CA374910228 | LMX1B | c.313C>A (p.Gln105Lys) c.244C>A (p.Gln82Lys) | |
| 9 | g.126615556C>G | CA374910229 | LMX1B | c.313C>G (p.Gln105Glu) c.244C>G (p.Gln82Glu) | |
| 9 | g.126615556C>T | CA374910230 | LMX1B | c.313C>T (p.Gln105Ter) c.244C>T (p.Gln82Ter) | |
| 9 | g.126615557A>C | CA374910233 | LMX1B | c.314A>C (p.Gln105Pro) c.245A>C (p.Gln82Pro) | |
| 9 | g.126615557A>G | CA374910231 | LMX1B | c.314A>G (p.Gln105Arg) c.245A>G (p.Gln82Arg) | gnomAD v4 |
| 9 | g.126615557A>T | CA374910232 | LMX1B | c.314A>T (p.Gln105Leu) c.245A>T (p.Gln82Leu) | |
| 9 | g.126615558A>C | CA374910234 | LMX1B | c.315A>C (p.Gln105His) c.246A>C (p.Gln82His) | |
| 9 | g.126615558A>G | CA467136411 | LMX1B | c.315A>G (p.Gln105=) c.246A>G (p.Gln82=) | |
| 9 | g.126615558A>T | CA374910235 | LMX1B | c.315A>T (p.Gln105His) c.246A>T (p.Gln82His) | |
| 9 | g.126615559G>A | CA374910236 | LMX1B | c.316G>A (p.Asp106Asn) c.247G>A (p.Asp83Asn) | |
| 9 | g.126615559G>C | CA374910237 | LMX1B | c.316G>C (p.Asp106His) c.247G>C (p.Asp83His) | |
| 9 | g.126615559G>T | CA374910238 | LMX1B | c.316G>T (p.Asp106Tyr) c.247G>T (p.Asp83Tyr) | |
| 9 | g.126615560A>C | CA374910239 | LMX1B | c.317A>C (p.Asp106Ala) c.248A>C (p.Asp83Ala) | ClinVar |
| 9 | g.126615560A>G | CA374910240 | LMX1B | c.317A>G (p.Asp106Gly) c.248A>G (p.Asp83Gly) | gnomAD v4 |
| 9 | g.126615560A>T | CA374910241 | LMX1B | c.317A>T (p.Asp106Val) c.248A>T (p.Asp83Val) | |
| 9 | g.126615561C>A | CA374910242 | LMX1B | c.318C>A (p.Asp106Glu) c.249C>A (p.Asp83Glu) | |
| 9 | g.126615561C>G | CA374910243 | LMX1B | c.318C>G (p.Asp106Glu) c.249C>G (p.Asp83Glu) | |
| 9 | g.126615561C>T | CA467136412 | LMX1B | c.318C>T (p.Asp106=) c.249C>T (p.Asp83=) | gnomAD v4 |
| 9 | g.126615562T>A | CA374910245 | LMX1B | c.319T>A (p.Tyr107Asn) c.250T>A (p.Tyr84Asn) | gnomAD v4 |
| 9 | g.126615562T>C | CA374910246 | LMX1B | c.319T>C (p.Tyr107His) c.250T>C (p.Tyr84His) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615562T>G | CA374910244 | LMX1B | c.319T>G (p.Tyr107Asp) c.250T>G (p.Tyr84Asp) | ClinVar |
| 9 | g.126615562T= | CA1879436209 | LMX1B | c.319T= (p.Tyr107=) c.250T= (p.Tyr84=) | |
| 9 | g.126615562_126615563dup | CA2573053091 | LMX1B | c.319_320dup (p.Gln108ThrfsTer22) c.250_251dup (p.Gln85ThrfsTer22) | ClinVar dbSNP |
| 9 | g.126615563del | CA2695211131 | LMX1B | c.320del (p.Tyr107SerfsTer22) c.251del (p.Tyr84SerfsTer22) | |
| 9 | g.126615563A>C | CA374910247 | LMX1B | c.320A>C (p.Tyr107Ser) c.251A>C (p.Tyr84Ser) | |
| 9 | g.126615563A>G | CA374910248 | LMX1B | c.320A>G (p.Tyr107Cys) c.251A>G (p.Tyr84Cys) | |
| 9 | g.126615563A>T | CA374910249 | LMX1B | c.320A>T (p.Tyr107Phe) c.251A>T (p.Tyr84Phe) | |
| 9 | g.126615564C>A | CA374910250 | LMX1B | c.321C>A (p.Tyr107Ter) c.252C>A (p.Tyr84Ter) | COSMIC COSMIC COSMIC |
| 9 | g.126615564C= | CA1879436210 | LMX1B | c.321C= (p.Tyr107=) c.252C= (p.Tyr84=) | |
| 9 | g.126615564C>G | CA374910251 | LMX1B | c.321C>G (p.Tyr107Ter) c.252C>G (p.Tyr84Ter) | ClinVar dbSNP |
| 9 | g.126615564C>T | CA467136413 | LMX1B | c.321C>T (p.Tyr107=) c.252C>T (p.Tyr84=) | |
| 9 | g.126615565del | CA2695211132 | LMX1B | c.322del (p.Gln108AsnfsTer21) c.253del (p.Gln85AsnfsTer21) | |
| 9 | g.126615565C>A | CA374910254 | LMX1B | c.322C>A (p.Gln108Lys) c.253C>A (p.Gln85Lys) | gnomAD v4 |
| 9 | g.126615565C>G | CA374910252 | LMX1B | c.322C>G (p.Gln108Glu) c.253C>G (p.Gln85Glu) | gnomAD v4 |
| 9 | g.126615565C>T | CA374910253 | LMX1B | c.322C>T (p.Gln108Ter) c.253C>T (p.Gln85Ter) | |
| 9 | g.126615566_126615577del | CA2499219613 | LMX1B | c.323_326+8del c.254_257+8del | ClinVar dbSNP |
| 9 | g.126615566A>C | CA374910255 | LMX1B | c.323A>C (p.Gln108Pro) c.254A>C (p.Gln85Pro) | |
| 9 | g.126615566A>G | CA374910256 | LMX1B | c.323A>G (p.Gln108Arg) c.254A>G (p.Gln85Arg) | |
| 9 | g.126615566A>T | CA374910257 | LMX1B | c.323A>T (p.Gln108Leu) c.254A>T (p.Gln85Leu) | |
| 9 | g.126615566_126615569dup | CA2695211133 | LMX1B | c.323_326dup (p.Leu110ThrfsTer?) c.254_257dup (p.Leu87ThrfsTer?) | |
| 9 | g.126615567A>C | CA374910258 | LMX1B | c.324A>C (p.Gln108His) c.255A>C (p.Gln85His) | |
| 9 | g.126615567A>G | CA467136414 | LMX1B | c.324A>G (p.Gln108=) c.255A>G (p.Gln85=) | |
| 9 | g.126615567A>T | CA374910259 | LMX1B | c.324A>T (p.Gln108His) c.255A>T (p.Gln85His) | |
| 9 | g.126615568C>A | CA374910260 | LMX1B | c.325C>A (p.Gln109Lys) c.256C>A (p.Gln86Lys) | gnomAD v4 |
| 9 | g.126615568C= | CA1879436211 | LMX1B | c.325C= (p.Gln109=) c.256C= (p.Gln86=) | |
| 9 | g.126615568C>G | CA374910262 | LMX1B | c.325C>G (p.Gln109Glu) c.256C>G (p.Gln86Glu) | |
| 9 | g.126615568C>T | CA374910261 | LMX1B | c.325C>T (p.Gln109Ter) c.256C>T (p.Gln86Ter) | ClinVar dbSNP |
| 9 | g.126615569A>C | CA374910263 | LMX1B | c.326A>C (p.Gln109Pro) c.257A>C (p.Gln86Pro) | |
| 9 | g.126615569A>G | CA374910264 | LMX1B | c.326A>G (p.Gln109Arg) c.257A>G (p.Gln86Arg) | |
| 9 | g.126615569A>T | CA374910265 | LMX1B | c.326A>T (p.Gln109Leu) c.257A>T (p.Gln86Leu) | |
| 9 | g.126615570G>A | CA374910266 | LMX1B | c.326+1G>A (n.326+1G>A) c.257+1G>A (n.257+1G>A) | ClinVar dbSNP gnomAD v4 |
| 9 | g.126615570G>C | CA374910267 | LMX1B | c.326+1G>C (n.326+1G>C) c.257+1G>C (n.257+1G>C) | ClinVar dbSNP |
| 9 | g.126615570G= | CA1879436212 | LMX1B | c.326+1G= (n.326+1G=) c.257+1G= (n.257+1G=) | |
| 9 | g.126615570G>T | CA374910268 | LMX1B | c.326+1G>T (n.326+1G>T) c.257+1G>T (n.257+1G>T) | |
| 9 | g.126615571T>A | CA374910269 | LMX1B | c.326+2T>A (n.326+2T>A) c.257+2T>A (n.257+2T>A) | |
| 9 | g.126615571T>C | CA5242259 | LMX1B | c.326+2T>C (n.326+2T>C) c.257+2T>C (n.257+2T>C) | dbSNP ExAC gnomAD v2 |
| 9 | g.126615571T>G | CA374910270 | LMX1B | c.326+2T>G (n.326+2T>G) c.257+2T>G (n.257+2T>G) | |
| 9 | g.126615571T= | CA1879436213 | LMX1B | c.326+2T= (n.326+2T=) c.257+2T= (n.257+2T=) | |
| 9 | g.126615575C= | CA1879436214 | LMX1B | c.326+6C= (n.326+6C=) c.257+6C= (n.257+6C=) | |
| 9 | g.126615575C>T | CA590568549 | LMX1B | c.326+6C>T (n.326+6C>T) c.257+6C>T (n.257+6C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615576G>A | CA1129176144 | LMX1B | c.326+7G>A (n.326+7G>A) c.257+7G>A (n.257+7G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615576G>C | CA5242260 | LMX1B | c.326+7G>C (n.326+7G>C) c.257+7G>C (n.257+7G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615576G= | CA1630847980 | LMX1B | c.326+7G= (n.326+7G=) c.257+7G= (n.257+7G=) | |
| 9 | g.126615576G>T | CA590568555 | LMX1B | c.326+7G>T (n.326+7G>T) c.257+7G>T (n.257+7G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615577C>A | CA2691711565 | LMX1B | c.326+8C>A (n.326+8C>A) c.257+8C>A (n.257+8C>A) | gnomAD v4 |
| 9 | g.126615577C= | CA1879436215 | LMX1B | c.326+8C= (n.326+8C=) c.257+8C= (n.257+8C=) | |
| 9 | g.126615577C>T | CA199787603 | LMX1B | c.326+8C>T (n.326+8C>T) c.257+8C>T (n.257+8C>T) | dbSNP gnomAD v2 |
| 9 | g.126615578T>C | CA590568558 | LMX1B | c.326+9T>C (n.326+9T>C) c.257+9T>C (n.257+9T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615578T= | CA1879436216 | LMX1B | c.326+9T= (n.326+9T=) c.257+9T= (n.257+9T=) | |
| 9 | g.126615580C>A | CA2691711568 | LMX1B | c.326+11C>A (n.326+11C>A) c.257+11C>A (n.257+11C>A) | gnomAD v4 |
| 9 | g.126615580C= | CA1879436217 | LMX1B | c.326+11C= (n.326+11C=) c.257+11C= (n.257+11C=) | |
| 9 | g.126615580C>G | CA5242261 | LMX1B | c.326+11C>G (n.326+11C>G) c.257+11C>G (n.257+11C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615580C>T | CA860105223 | LMX1B | c.326+11C>T (n.326+11C>T) c.257+11C>T (n.257+11C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615582_126615590del | CA2691711567 | LMX1B | c.326+13_326+21del (n.326+13_326+21del) c.257+13_257+21del (n.257+13_257+21del) | gnomAD v4 |
| 9 | g.126615580_126615581insGCG | CA2579486840 | LMX1B | c.326+11_326+12insGCG (n.326+11_326+12insGCG) c.257+11_257+12insGCG (n.257+11_257+12insGCG) | |
| 9 | g.126615581T>A | CA2691711570 | LMX1B | c.326+12T>A (n.326+12T>A) c.257+12T>A (n.257+12T>A) | gnomAD v4 |
| 9 | g.126615581T>G | CA2691711571 | LMX1B | c.326+12T>G (n.326+12T>G) c.257+12T>G (n.257+12T>G) | gnomAD v4 |
| 9 | g.126615582C>A | CA2691711572 | LMX1B | c.326+13C>A (n.326+13C>A) c.257+13C>A (n.257+13C>A) | gnomAD v4 |
| 9 | g.126615582C= | CA1879436218 | LMX1B | c.326+13C= (n.326+13C=) c.257+13C= (n.257+13C=) | |
| 9 | g.126615582C>G | CA5242262 | LMX1B | c.326+13C>G (n.326+13C>G) c.257+13C>G (n.257+13C>G) | dbSNP ExAC |
| 9 | g.126615582C>T | CA590568566 | LMX1B | c.326+13C>T (n.326+13C>T) c.257+13C>T (n.257+13C>T) | dbSNP gnomAD v2 |
| 9 | g.126615583G>A | CA5242263 | LMX1B | c.326+14G>A (n.326+14G>A) c.257+14G>A (n.257+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615583G>C | CA199787612 | LMX1B | c.326+14G>C (n.326+14G>C) c.257+14G>C (n.257+14G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615583G= | CA1879436219 | LMX1B | c.326+14G= (n.326+14G=) c.257+14G= (n.257+14G=) | |
| 9 | g.126615583G>T | CA199787608 | LMX1B | c.326+14G>T (n.326+14G>T) c.257+14G>T (n.257+14G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615584T>A | CA199787616 | LMX1B | c.326+15T>A (n.326+15T>A) c.257+15T>A (n.257+15T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615584T>C | CA590568589 | LMX1B | c.326+15T>C (n.326+15T>C) c.257+15T>C (n.257+15T>C) | dbSNP gnomAD v2 |
| 9 | g.126615584T= | CA1879436220 | LMX1B | c.326+15T= (n.326+15T=) c.257+15T= (n.257+15T=) | |
| 9 | g.126615585C>A | CA2691711574 | LMX1B | c.326+16C>A (n.326+16C>A) c.257+16C>A (n.257+16C>A) | gnomAD v4 |
| 9 | g.126615585C= | CA1879436221 | LMX1B | c.326+16C= (n.326+16C=) c.257+16C= (n.257+16C=) | |
| 9 | g.126615585C>T | CA5242264 | LMX1B | c.326+16C>T (n.326+16C>T) c.257+16C>T (n.257+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615586C= | CA1879436222 | LMX1B | c.326+17C= (n.326+17C=) c.257+17C= (n.257+17C=) | |
| 9 | g.126615586C>G | CA5242265 | LMX1B | c.326+17C>G (n.326+17C>G) c.257+17C>G (n.257+17C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615586C>T | CA1129176172 | LMX1B | c.326+17C>T (n.326+17C>T) c.257+17C>T (n.257+17C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615587T>C | CA2691711578 | LMX1B | c.326+18T>C (n.326+18T>C) c.257+18T>C (n.257+18T>C) | gnomAD v4 |
| 9 | g.126615587T>G | CA590568602 | LMX1B | c.326+18T>G (n.326+18T>G) c.257+18T>G (n.257+18T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615587T= | CA1879436223 | LMX1B | c.326+18T= (n.326+18T=) c.257+18T= (n.257+18T=) | |
| 9 | g.126615588C>A | CA2691711580 | LMX1B | c.326+19C>A (n.326+19C>A) c.257+19C>A (n.257+19C>A) | gnomAD v4 |
| 9 | g.126615588C>T | CA2579486841 | LMX1B | c.326+19C>T (n.326+19C>T) c.257+19C>T (n.257+19C>T) | |
| 9 | g.126615589C>A | CA2691711583 | LMX1B | c.326+20C>A (n.326+20C>A) c.257+20C>A (n.257+20C>A) | gnomAD v4 |
| 9 | g.126615589C>T | CA2691711585 | LMX1B | c.326+20C>T (n.326+20C>T) c.257+20C>T (n.257+20C>T) | gnomAD v4 |
| 9 | g.126615590T>C | CA199787632 | LMX1B | c.326+21T>C (n.326+21T>C) c.257+21T>C (n.257+21T>C) | dbSNP gnomAD v4 |
| 9 | g.126615590T>G | CA199787628 | LMX1B | c.326+21T>G (n.326+21T>G) c.257+21T>G (n.257+21T>G) | dbSNP gnomAD v4 |
| 9 | g.126615590T= | CA1879436224 | LMX1B | c.326+21T= (n.326+21T=) c.257+21T= (n.257+21T=) | |
| 9 | g.126615591del | CA2570283084 | LMX1B | c.326+22del (n.326+22del) c.257+22del (n.257+22del) | gnomAD v4 |
| 9 | g.126615591T>C | CA2691711588 | LMX1B | c.326+22T>C (n.326+22T>C) c.257+22T>C (n.257+22T>C) | gnomAD v4 |
| 9 | g.126615591T>G | CA2691711589 | LMX1B | c.326+22T>G (n.326+22T>G) c.257+22T>G (n.257+22T>G) | gnomAD v4 |
| 9 | g.126615592C>A | CA2691711598 | LMX1B | c.326+23C>A (n.326+23C>A) c.257+23C>A (n.257+23C>A) | gnomAD v4 |
| 9 | g.126615592C= | CA1879436225 | LMX1B | c.326+23C= (n.326+23C=) c.257+23C= (n.257+23C=) | |
| 9 | g.126615592C>G | CA5242266 | LMX1B | c.326+23C>G (n.326+23C>G) c.257+23C>G (n.257+23C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615592C>T | CA590568615 | LMX1B | c.326+23C>T (n.326+23C>T) c.257+23C>T (n.257+23C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615595del | CA2691711597 | LMX1B | c.326+26del (n.326+26del) c.257+26del (n.257+26del) | gnomAD v4 |
| 9 | g.126615593C>A | CA2691711600 | LMX1B | c.326+24C>A (n.326+24C>A) c.257+24C>A (n.257+24C>A) | gnomAD v4 |
| 9 | g.126615593C>T | CA2579486842 | LMX1B | c.326+24C>T (n.326+24C>T) c.257+24C>T (n.257+24C>T) | gnomAD v4 |
| 9 | g.126615594C>A | CA2691711603 | LMX1B | c.326+25C>A (n.326+25C>A) c.257+25C>A (n.257+25C>A) | gnomAD v4 |
| 9 | g.126615594C>T | CA2691711607 | LMX1B | c.326+25C>T (n.326+25C>T) c.257+25C>T (n.257+25C>T) | gnomAD v4 |
| 9 | g.126615595C>A | CA2691711658 | LMX1B | c.326+26C>A (n.326+26C>A) c.257+26C>A (n.257+26C>A) | gnomAD v4 |
| 9 | g.126615595C= | CA1879436226 | LMX1B | c.326+26C= (n.326+26C=) c.257+26C= (n.257+26C=) | |
| 9 | g.126615595C>G | CA2720479093 | LMX1B | c.326+26C>G (n.326+26C>G) c.257+26C>G (n.257+26C>G) | dbSNP |
| 9 | g.126615595C>T | CA590568616 | LMX1B | c.326+26C>T (n.326+26C>T) c.257+26C>T (n.257+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615596G>A | CA2691711659 | LMX1B | c.326+27G>A (n.326+27G>A) c.257+27G>A (n.257+27G>A) | gnomAD v4 |
| 9 | g.126615596G>T | CA2691711660 | LMX1B | c.326+27G>T (n.326+27G>T) c.257+27G>T (n.257+27G>T) | gnomAD v4 |
| 9 | g.126615597C>A | CA1879436228 | LMX1B | c.326+28C>A (n.326+28C>A) c.257+28C>A (n.257+28C>A) | dbSNP gnomAD v4 |
| 9 | g.126615597C= | CA1879436227 | LMX1B | c.326+28C= (n.326+28C=) c.257+28C= (n.257+28C=) | |
| 9 | g.126615597C>T | CA590568617 | LMX1B | c.326+28C>T (n.326+28C>T) c.257+28C>T (n.257+28C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615598C>A | CA2691711664 | LMX1B | c.326+29C>A (n.326+29C>A) c.257+29C>A (n.257+29C>A) | gnomAD v4 |
| 9 | g.126615598C= | CA1879436229 | LMX1B | c.326+29C= (n.326+29C=) c.257+29C= (n.257+29C=) | |
| 9 | g.126615598C>T | CA590568619 | LMX1B | c.326+29C>T (n.326+29C>T) c.257+29C>T (n.257+29C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615599A>C | CA2691711666 | LMX1B | c.326+30A>C (n.326+30A>C) c.257+30A>C (n.257+30A>C) | gnomAD v4 |
| 9 | g.126615599A>G | CA2579486843 | LMX1B | c.326+30A>G (n.326+30A>G) c.257+30A>G (n.257+30A>G) | gnomAD v4 |
| 9 | g.126615600C>A | CA2691711670 | LMX1B | c.326+31C>A (n.326+31C>A) c.257+31C>A (n.257+31C>A) | gnomAD v4 |
| 9 | g.126615600C= | CA1879436230 | LMX1B | c.326+31C= (n.326+31C=) c.257+31C= (n.257+31C=) | |
| 9 | g.126615600C>T | CA590568621 | LMX1B | c.326+31C>T (n.326+31C>T) c.257+31C>T (n.257+31C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615601C>A | CA2691711675 | LMX1B | c.326+32C>A (n.326+32C>A) c.257+32C>A (n.257+32C>A) | gnomAD v4 |
| 9 | g.126615601C= | CA1879436231 | LMX1B | c.326+32C= (n.326+32C=) c.257+32C= (n.257+32C=) | |
| 9 | g.126615601C>G | CA5242267 | LMX1B | c.326+32C>G (n.326+32C>G) c.257+32C>G (n.257+32C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615601C>T | CA860105265 | LMX1B | c.326+32C>T (n.326+32C>T) c.257+32C>T (n.257+32C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615602G>A | CA2691711678 | LMX1B | c.326+33G>A (n.326+33G>A) c.257+33G>A (n.257+33G>A) | gnomAD v4 |
| 9 | g.126615602G>T | CA2691711679 | LMX1B | c.326+33G>T (n.326+33G>T) c.257+33G>T (n.257+33G>T) | gnomAD v4 |
| 9 | g.126615603C>A | CA2691711682 | LMX1B | c.326+34C>A (n.326+34C>A) c.257+34C>A (n.257+34C>A) | gnomAD v4 |
| 9 | g.126615605del | CA2579486844 | LMX1B | c.326+36del (n.326+36del) c.257+36del (n.257+36del) | gnomAD v4 |
| 9 | g.126615604C>A | CA2691711685 | LMX1B | c.326+35C>A (n.326+35C>A) c.257+35C>A (n.257+35C>A) | gnomAD v4 |
| 9 | g.126615604C= | CA1879436232 | LMX1B | c.326+35C= (n.326+35C=) c.257+35C= (n.257+35C=) | |
| 9 | g.126615604C>G | CA2579486845 | LMX1B | c.326+35C>G (n.326+35C>G) c.257+35C>G (n.257+35C>G) | |
| 9 | g.126615604C>T | CA590568627 | LMX1B | c.326+35C>T (n.326+35C>T) c.257+35C>T (n.257+35C>T) | dbSNP gnomAD v2 |
| 9 | g.126615609_126615664del | CA2691711684 | LMX1B | c.326+40_326+95del (n.326+40_326+95del) c.257+40_257+95del (n.257+40_257+95del) | gnomAD v4 |
| 9 | g.126615605C>A | CA2691711689 | LMX1B | c.326+36C>A (n.326+36C>A) c.257+36C>A (n.257+36C>A) | gnomAD v4 |
| 9 | g.126615605C>T | CA2691711691 | LMX1B | c.326+36C>T (n.326+36C>T) c.257+36C>T (n.257+36C>T) | gnomAD v4 |
| 9 | g.126615606G>A | CA5242268 | LMX1B | c.326+37G>A (n.326+37G>A) c.257+37G>A (n.257+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615606G= | CA1879436233 | LMX1B | c.326+37G= (n.326+37G=) c.257+37G= (n.257+37G=) | |
| 9 | g.126615606G>T | CA2691711700 | LMX1B | c.326+37G>T (n.326+37G>T) c.257+37G>T (n.257+37G>T) | gnomAD v4 |
| 9 | g.126615607G>A | CA590568634 | LMX1B | c.326+38G>A (n.326+38G>A) c.257+38G>A (n.257+38G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615607G= | CA1879436234 | LMX1B | c.326+38G= (n.326+38G=) c.257+38G= (n.257+38G=) | |
| 9 | g.126615607G>T | CA2691711704 | LMX1B | c.326+38G>T (n.326+38G>T) c.257+38G>T (n.257+38G>T) | gnomAD v4 |
| 9 | g.126615608C>A | CA2691711706 | LMX1B | c.326+39C>A (n.326+39C>A) c.257+39C>A (n.257+39C>A) | gnomAD v4 |
| 9 | g.126615608C>T | CA2691711707 | LMX1B | c.326+39C>T (n.326+39C>T) c.257+39C>T (n.257+39C>T) | gnomAD v4 |
| 9 | g.126615609A>C | CA2691711708 | LMX1B | c.326+40A>C (n.326+40A>C) c.257+40A>C (n.257+40A>C) | gnomAD v4 |
| 9 | g.126615610C>A | CA2691711710 | LMX1B | c.326+41C>A (n.326+41C>A) c.257+41C>A (n.257+41C>A) | gnomAD v4 |
| 9 | g.126615610C= | CA1879436235 | LMX1B | c.326+41C= (n.326+41C=) c.257+41C= (n.257+41C=) | |
| 9 | g.126615610C>T | CA1879436236 | LMX1B | c.326+41C>T (n.326+41C>T) c.257+41C>T (n.257+41C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615611T>A | CA2691711712 | LMX1B | c.326+42T>A (n.326+42T>A) c.257+42T>A (n.257+42T>A) | gnomAD v4 |
| 9 | g.126615611_126615619delinsTCGAGCCCG | CA1879436237 | LMX1B | c.326+42_326+50delinsTCGAGCCCG (n.326+42_326+50delinsTCGAGCCCG) c.257+42_257+50delinsTCGAGCCCG (n.257+42_257+50delinsTCGAGCCCG) | |
| 9 | g.126615612C>A | CA590568639 | LMX1B | c.326+43C>A (n.326+43C>A) c.257+43C>A (n.257+43C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615612C= | CA1879436238 | LMX1B | c.326+43C= (n.326+43C=) c.257+43C= (n.257+43C=) | |
| 9 | g.126615612C>G | CA1129176179 | LMX1B | c.326+43C>G (n.326+43C>G) c.257+43C>G (n.257+43C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615612C>T | CA2691711717 | LMX1B | c.326+43C>T (n.326+43C>T) c.257+43C>T (n.257+43C>T) | gnomAD v4 |
| 9 | g.126615612dup | CA2691711716 | LMX1B | c.326+43dup (n.326+43dup) c.257+43dup (n.257+43dup) | gnomAD v4 |
| 9 | g.126615612_126615619del | CA590568636 | LMX1B | c.326+43_326+50del (n.326+43_326+50del) c.257+43_257+50del (n.257+43_257+50del) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615613G>A | CA2691711720 | LMX1B | c.326+44G>A (n.326+44G>A) c.257+44G>A (n.257+44G>A) | gnomAD v4 |
| 9 | g.126615613G>C | CA590568642 | LMX1B | c.326+44G>C (n.326+44G>C) c.257+44G>C (n.257+44G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615613G= | CA1879436239 | LMX1B | c.326+44G= (n.326+44G=) c.257+44G= (n.257+44G=) | |
| 9 | g.126615613G>T | CA2691711721 | LMX1B | c.326+44G>T (n.326+44G>T) c.257+44G>T (n.257+44G>T) | gnomAD v4 |
| 9 | g.126615614A>G | CA2579486846 | LMX1B | c.326+45A>G (n.326+45A>G) c.257+45A>G (n.257+45A>G) | gnomAD v4 |
| 9 | g.126615614_126615635delinsAGCCCGGTCAGCCCCCTGCCGG | CA1879436240 | LMX1B | c.326+45_326+66delinsAGCCCGGTCAGCCCCCTGCCGG (n.326+45_326+66delinsAGCCCGGTCAGCCCCCTGCCGG) c.257+45_257+66delinsAGCCCGGTCAGCCCCCTGCCGG (n.257+45_257+66delinsAGCCCGGTCAGCCCCCTGCCGG) | |
| 9 | g.126615615G>A | CA5242269 | LMX1B | c.326+46G>A (n.326+46G>A) c.257+46G>A (n.257+46G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615615G= | CA1879436241 | LMX1B | c.326+46G= (n.326+46G=) c.257+46G= (n.257+46G=) | |
| 9 | g.126615615G>T | CA2691711723 | LMX1B | c.326+46G>T (n.326+46G>T) c.257+46G>T (n.257+46G>T) | gnomAD v4 |
| 9 | g.126615621_126615641del | CA590568645 | LMX1B | c.326+52_326+72del (n.326+52_326+72del) c.257+52_257+72del (n.257+52_257+72del) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615616C>A | CA590568654 | LMX1B | c.326+47C>A (n.326+47C>A) c.257+47C>A (n.257+47C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615616C= | CA1879436242 | LMX1B | c.326+47C= (n.326+47C=) c.257+47C= (n.257+47C=) | |
| 9 | g.126615616C>T | CA2691711724 | LMX1B | c.326+47C>T (n.326+47C>T) c.257+47C>T (n.257+47C>T) | gnomAD v4 |
| 9 | g.126615617C>T | CA2691711725 | LMX1B | c.326+48C>T (n.326+48C>T) c.257+48C>T (n.257+48C>T) | gnomAD v4 |
| 9 | g.126615618C>A | CA2691711727 | LMX1B | c.326+49C>A (n.326+49C>A) c.257+49C>A (n.257+49C>A) | gnomAD v4 |
| 9 | g.126615618C= | CA1879436243 | LMX1B | c.326+49C= (n.326+49C=) c.257+49C= (n.257+49C=) | |
| 9 | g.126615618C>G | CA860105296 | LMX1B | c.326+49C>G (n.326+49C>G) c.257+49C>G (n.257+49C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615618C>T | CA590568658 | LMX1B | c.326+49C>T (n.326+49C>T) c.257+49C>T (n.257+49C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615619G>A | CA860105300 | LMX1B | c.326+50G>A (n.326+50G>A) c.257+50G>A (n.257+50G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615619G>C | CA1879436245 | LMX1B | c.326+50G>C (n.326+50G>C) c.257+50G>C (n.257+50G>C) | dbSNP |
| 9 | g.126615619G= | CA1879436244 | LMX1B | c.326+50G= (n.326+50G=) c.257+50G= (n.257+50G=) | |
| 9 | g.126615619G>T | CA590568663 | LMX1B | c.326+50G>T (n.326+50G>T) c.257+50G>T (n.257+50G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615620G>A | CA1879436247 | LMX1B | c.326+51G>A (n.326+51G>A) c.257+51G>A (n.257+51G>A) | dbSNP gnomAD v4 |
| 9 | g.126615620G>C | CA5242270 | LMX1B | c.326+51G>C (n.326+51G>C) c.257+51G>C (n.257+51G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615620G= | CA1879436246 | LMX1B | c.326+51G= (n.326+51G=) c.257+51G= (n.257+51G=) | |
| 9 | g.126615620G>T | CA2691711732 | LMX1B | c.326+51G>T (n.326+51G>T) c.257+51G>T (n.257+51G>T) | gnomAD v4 |
| 9 | g.126615622C>A | CA2579486847 | LMX1B | c.326+53C>A (n.326+53C>A) c.257+53C>A (n.257+53C>A) | gnomAD v4 |
| 9 | g.126615622C= | CA1879436248 | LMX1B | c.326+53C= (n.326+53C=) c.257+53C= (n.257+53C=) | |
| 9 | g.126615622C>G | CA2691711733 | LMX1B | c.326+53C>G (n.326+53C>G) c.257+53C>G (n.257+53C>G) | gnomAD v4 |
| 9 | g.126615622C>T | CA1129176188 | LMX1B | c.326+53C>T (n.326+53C>T) c.257+53C>T (n.257+53C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615623A>G | CA2691711735 | LMX1B | c.326+54A>G (n.326+54A>G) c.257+54A>G (n.257+54A>G) | gnomAD v4 |
| 9 | g.126615624G>A | CA2691711736 | LMX1B | c.326+55G>A (n.326+55G>A) c.257+55G>A (n.257+55G>A) | gnomAD v4 |
| 9 | g.126615624G>T | CA2691711738 | LMX1B | c.326+55G>T (n.326+55G>T) c.257+55G>T (n.257+55G>T) | gnomAD v4 |
| 9 | g.126615625C>A | CA2691711739 | LMX1B | c.326+56C>A (n.326+56C>A) c.257+56C>A (n.257+56C>A) | gnomAD v4 |
| 9 | g.126615625C>G | CA2579486849 | LMX1B | c.326+56C>G (n.326+56C>G) c.257+56C>G (n.257+56C>G) | gnomAD v4 |
| 9 | g.126615625C>T | CA2691711740 | LMX1B | c.326+56C>T (n.326+56C>T) c.257+56C>T (n.257+56C>T) | gnomAD v4 |
| 9 | g.126615629del | CA2579486848 | LMX1B | c.326+60del (n.326+60del) c.257+60del (n.257+60del) | gnomAD v4 |
| 9 | g.126615626C>A | CA860105305 | LMX1B | c.326+57C>A (n.326+57C>A) c.257+57C>A (n.257+57C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615626C= | CA1879436249 | LMX1B | c.326+57C= (n.326+57C=) c.257+57C= (n.257+57C=) | |
| 9 | g.126615626C>T | CA860105307 | LMX1B | c.326+57C>T (n.326+57C>T) c.257+57C>T (n.257+57C>T) | dbSNP gnomAD v4 |
| 9 | g.126615627C>A | CA199787665 | LMX1B | c.326+58C>A (n.326+58C>A) c.257+58C>A (n.257+58C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615627C= | CA1879436250 | LMX1B | c.326+58C= (n.326+58C=) c.257+58C= (n.257+58C=) | |
| 9 | g.126615627C>T | CA2691711742 | LMX1B | c.326+58C>T (n.326+58C>T) c.257+58C>T (n.257+58C>T) | gnomAD v4 |