| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.126690837_126696452del | CA1139768478 | LMX1B | c.328_*1del c.259_*1del | |
| 9 | g.126693243del | CA2695211427 | LMX1B | c.661del (p.Arg221AspfsTer?) c.592del (p.Arg198AspfsTer?) | |
| 9 | g.126693243C>A | CA467136531 | LMX1B | c.661C>A (p.Arg221=) c.592C>A (p.Arg198=) | gnomAD v4 |
| 9 | g.126693243C= | CA1879478518 | LMX1B | c.661C= (p.Arg221=) c.592C= (p.Arg198=) | |
| 9 | g.126693243C>G | CA374913434 | LMX1B | c.661C>G (p.Arg221Gly) c.592C>G (p.Arg198Gly) | |
| 9 | g.126693243C>T | CA254044 | LMX1B | c.661C>T (p.Arg221Ter) c.592C>T (p.Arg198Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.126693244G>A | CA374913438 | LMX1B | c.662G>A (p.Arg221Gln) c.593G>A (p.Arg198Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693244G>C | CA374913439 | LMX1B | c.662G>C (p.Arg221Pro) c.593G>C (p.Arg198Pro) | |
| 9 | g.126693244G= | CA1879478521 | LMX1B | c.662G= (p.Arg221=) c.593G= (p.Arg198=) | |
| 9 | g.126693244G>T | CA374913440 | LMX1B | c.662G>T (p.Arg221Leu) c.593G>T (p.Arg198Leu) | |
| 9 | g.126693245A= | CA1879478524 | LMX1B | c.663A= (p.Arg221=) c.594A= (p.Arg198=) | |
| 9 | g.126693245A>C | CA467136532 | LMX1B | c.663A>C (p.Arg221=) c.594A>C (p.Arg198=) | dbSNP |
| 9 | g.126693245A>G | CA467136533 | LMX1B | c.663A>G (p.Arg221=) c.594A>G (p.Arg198=) | |
| 9 | g.126693245A>T | CA467136534 | LMX1B | c.663A>T (p.Arg221=) c.594A>T (p.Arg198=) | |
| 9 | g.126693245dup | CA2695211428 | LMX1B | c.663dup (p.Pro222ThrfsTer?) c.594dup (p.Pro199ThrfsTer?) | |
| 9 | g.126693245_126693246delinsAC | CA1879478523 | LMX1B | c.663_664delinsAC (p.Arg221=) c.594_595delinsAC (p.Arg198=) | |
| 9 | g.126693246C>A | CA374913446 | LMX1B | c.664C>A (p.Pro222Thr) c.595C>A (p.Pro199Thr) | gnomAD v4 |
| 9 | g.126693246C>G | CA374913445 | LMX1B | c.664C>G (p.Pro222Ala) c.595C>G (p.Pro199Ala) | |
| 9 | g.126693246C>T | CA374913443 | LMX1B | c.664C>T (p.Pro222Ser) c.595C>T (p.Pro199Ser) | |
| 9 | g.126693249del | CA913190105 | LMX1B | c.667del (p.Arg223GlyfsTer?) c.598del (p.Arg200GlyfsTer?) | ClinVar dbSNP |
| 9 | g.126693247C>A | CA374913449 | LMX1B | c.665C>A (p.Pro222His) c.596C>A (p.Pro199His) | gnomAD v4 |
| 9 | g.126693247C>G | CA374913451 | LMX1B | c.665C>G (p.Pro222Arg) c.596C>G (p.Pro199Arg) | |
| 9 | g.126693247C>T | CA374913453 | LMX1B | c.665C>T (p.Pro222Leu) c.596C>T (p.Pro199Leu) | |
| 9 | g.126693248C>A | CA5242380 | LMX1B | c.666C>A (p.Pro222=) c.597C>A (p.Pro199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126693248C= | CA1879478532 | LMX1B | c.666C= (p.Pro222=) c.597C= (p.Pro199=) | |
| 9 | g.126693248C>G | CA467136535 | LMX1B | c.666C>G (p.Pro222=) c.597C>G (p.Pro199=) | dbSNP gnomAD v4 |
| 9 | g.126693248C>T | CA5242379 | LMX1B | c.666C>T (p.Pro222=) c.597C>T (p.Pro199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693249C>A | CA467136536 | LMX1B | c.667C>A (p.Arg223=) c.598C>A (p.Arg200=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.126693249C= | CA1879478535 | LMX1B | c.667C= (p.Arg223=) c.598C= (p.Arg200=) | |
| 9 | g.126693249C>G | CA374913457 | LMX1B | c.667C>G (p.Arg223Gly) c.598C>G (p.Arg200Gly) | COSMIC COSMIC |
| 9 | g.126693249C>T | CA374913458 | LMX1B | c.667C>T (p.Arg223Trp) c.598C>T (p.Arg200Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126693250G>A | CA254059 | LMX1B | c.668G>A (p.Arg223Gln) c.599G>A (p.Arg200Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.126693250G>C | CA374913461 | LMX1B | c.668G>C (p.Arg223Pro) c.599G>C (p.Arg200Pro) | ClinVar |
| 9 | g.126693250G= | CA1879478538 | LMX1B | c.668G= (p.Arg223=) c.599G= (p.Arg200=) | |
| 9 | g.126693250G>T | CA374913463 | LMX1B | c.668G>T (p.Arg223Leu) c.599G>T (p.Arg200Leu) | gnomAD v4 |
| 9 | g.126693251G>A | CA199813150 | LMX1B | c.669G>A (p.Arg223=) c.600G>A (p.Arg200=) | dbSNP gnomAD v2 |
| 9 | g.126693251G>C | CA467136537 | LMX1B | c.669G>C (p.Arg223=) c.600G>C (p.Arg200=) | |
| 9 | g.126693251G= | CA1879478542 | LMX1B | c.669G= (p.Arg223=) c.600G= (p.Arg200=) | |
| 9 | g.126693251G>T | CA467136538 | LMX1B | c.669G>T (p.Arg223=) c.600G>T (p.Arg200=) | |
| 9 | g.126693252A= | CA1879478544 | LMX1B | c.670A= (p.Thr224=) c.601A= (p.Thr201=) | |
| 9 | g.126693252A>C | CA374913465 | LMX1B | c.670A>C (p.Thr224Pro) c.601A>C (p.Thr201Pro) | dbSNP |
| 9 | g.126693252A>G | CA374913468 | LMX1B | c.670A>G (p.Thr224Ala) c.601A>G (p.Thr201Ala) | |
| 9 | g.126693252A>T | CA374913469 | LMX1B | c.670A>T (p.Thr224Ser) c.601A>T (p.Thr201Ser) | |
| 9 | g.126693253C>A | CA374913472 | LMX1B | c.671C>A (p.Thr224Asn) c.602C>A (p.Thr201Asn) | |
| 9 | g.126693253C= | CA1879478545 | LMX1B | c.671C= (p.Thr224=) c.602C= (p.Thr201=) | |
| 9 | g.126693253C>G | CA374913474 | LMX1B | c.671C>G (p.Thr224Ser) c.602C>G (p.Thr201Ser) | |
| 9 | g.126693253C>T | CA374913471 | LMX1B | c.671C>T (p.Thr224Ile) c.602C>T (p.Thr201Ile) | dbSNP gnomAD v2 |
| 9 | g.126693254dup | CA2695211429 | LMX1B | c.672dup (p.Ile225HisfsTer?) c.603dup (p.Ile202HisfsTer?) | |
| 9 | g.126693254C>A | CA467136539 | LMX1B | c.672C>A (p.Thr224=) c.603C>A (p.Thr201=) | |
| 9 | g.126693254C>G | CA467136540 | LMX1B | c.672C>G (p.Thr224=) c.603C>G (p.Thr201=) |