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.126615283_126615348del | CA2785963049 | LMX1B | c.140-100_140-35del (n.140-100_140-35del) c.71-100_71-35del (n.71-100_71-35del) | |
| 9 | g.126615338_126615352dup | CA590568248 | LMX1B | c.140-45_140-31dup (n.140-45_140-31dup) c.71-45_71-31dup (n.71-45_71-31dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615346_126615362del | CA2579486836 | LMX1B | c.140-37_140-21del (n.140-37_140-21del) c.71-37_71-21del (n.71-37_71-21del) | ClinVar |
| 9 | g.126615351_126615352insCCCCGGCTGCCCTCGCCTTTGGGGCCGGGACTGCGGCACCGCGCGATCCGGACGCTGAGCCAGGCTGGTAGGCGCT | CA2785963054 | LMX1B | c.140-32_140-31insCCCCGGCTGCCCTCGCCTTTGGGGCCGGGACTGCGGCACCGCGCGATCCGGACGCTGAGCCAGGCTGGTAGGCGCT (n.140-32_140-31insCCCCGGCTGCCCTCGCCTTTGGGGCCGGGACTGCGGCACCGCGCGATCCGGACGCTGAGCCAGGCTGGTAGGCGCT) c.71-32_71-31insCCCCGGCTGCCCTCGCCTTTGGGGCCGGGACTGCGGCACCGCGCGATCCGGACGCTGAGCCAGGCTGGTAGGCGCT (n.71-32_71-31insCCCCGGCTGCCCTCGCCTTTGGGGCCGGGACTGCGGCACCGCGCGATCCGGACGCTGAGCCAGGCTGGTAGGCGCT) | |
| 9 | g.126615347G>A | CA2691711488 | LMX1B | c.140-36G>A (n.140-36G>A) c.71-36G>A (n.71-36G>A) | dbSNP gnomAD v4 |
| 9 | g.126615347G>T | CA2691711489 | LMX1B | c.140-36G>T (n.140-36G>T) c.71-36G>T (n.71-36G>T) | gnomAD v4 |
| 9 | g.126615347_126615348insGTT | CA1129176007 | LMX1B | c.140-36_140-35insGTT (n.140-36_140-35insGTT) c.71-36_71-35insGTT (n.71-36_71-35insGTT) | gnomAD v3 gnomAD v4 |
| 9 | g.126615348C>A | CA2691711490 | LMX1B | c.140-35C>A (n.140-35C>A) c.71-35C>A (n.71-35C>A) | gnomAD v4 |
| 9 | g.126615348C= | CA1879436122 | LMX1B | c.140-35C= (n.140-35C=) c.71-35C= (n.71-35C=) | |
| 9 | g.126615348C>T | CA5242230 | LMX1B | c.140-35C>T (n.140-35C>T) c.71-35C>T (n.71-35C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615348_126615349insTCCAAG | CA1129176011 | LMX1B | c.140-35_140-34insTCCAAG (n.140-35_140-34insTCCAAG) c.71-35_71-34insTCCAAG (n.71-35_71-34insTCCAAG) | gnomAD v3 gnomAD v4 |
| 9 | g.126615348_126615349insTCCAAGG | CA1129176016 | LMX1B | c.140-35_140-34insTCCAAGG (n.140-35_140-34insTCCAAGG) c.71-35_71-34insTCCAAGG (n.71-35_71-34insTCCAAGG) | gnomAD v3 gnomAD v4 |
| 9 | g.126615348_126615349insTCCAAGGGTTCCGA | CA2691711491 | LMX1B | c.140-35_140-34insTCCAAGGGTTCCGA (n.140-35_140-34insTCCAAGGGTTCCGA) c.71-35_71-34insTCCAAGGGTTCCGA (n.71-35_71-34insTCCAAGGGTTCCGA) | gnomAD v4 |
| 9 | g.126615348_126615349insTCCAAGGGTTCCGAGA | CA2603003638 | LMX1B | c.140-35_140-34insTCCAAGGGTTCCGAGA (n.140-35_140-34insTCCAAGGGTTCCGAGA) c.71-35_71-34insTCCAAGGGTTCCGAGA (n.71-35_71-34insTCCAAGGGTTCCGAGA) | gnomAD v3 gnomAD v4 |
| 9 | g.126615349G>A | CA2521195872 | LMX1B | c.140-34G>A (n.140-34G>A) c.71-34G>A (n.71-34G>A) | gnomAD v4 |
| 9 | g.126615349G>T | CA1129176022 | LMX1B | c.140-34G>T (n.140-34G>T) c.71-34G>T (n.71-34G>T) | gnomAD v3 gnomAD v4 |
| 9 | g.126615350C>A | CA2691711492 | LMX1B | c.140-33C>A (n.140-33C>A) c.71-33C>A (n.71-33C>A) | gnomAD v4 |
| 9 | g.126615350C= | CA1879436123 | LMX1B | c.140-33C= (n.140-33C=) c.71-33C= (n.71-33C=) | |
| 9 | g.126615350C>G | CA1129176028 | LMX1B | c.140-33C>G (n.140-33C>G) c.71-33C>G (n.71-33C>G) | gnomAD v3 gnomAD v4 |
| 9 | g.126615350C>T | CA860104756 | LMX1B | c.140-33C>T (n.140-33C>T) c.71-33C>T (n.71-33C>T) | dbSNP |
| 9 | g.126615351T>C | CA1129176049 | LMX1B | c.140-32T>C (n.140-32T>C) c.71-32T>C (n.71-32T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615351T= | CA1879436124 | LMX1B | c.140-32T= (n.140-32T=) c.71-32T= (n.71-32T=) | |
| 9 | g.126615351dup | CA2691711493 | LMX1B | c.140-32dup (n.140-32dup) c.71-32dup (n.71-32dup) | gnomAD v4 |
| 9 | g.126615351_126615352insTCCGA | CA2691711495 | LMX1B | c.140-32_140-31insTCCGA (n.140-32_140-31insTCCGA) c.71-32_71-31insTCCGA (n.71-32_71-31insTCCGA) | gnomAD v4 |
| 9 | g.126615352G>A | CA1129176066 | LMX1B | c.140-31G>A (n.140-31G>A) c.71-31G>A (n.71-31G>A) | gnomAD v3 gnomAD v4 |
| 9 | g.126615352G>C | CA5242231 | LMX1B | c.140-31G>C (n.140-31G>C) c.71-31G>C (n.71-31G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615352G= | CA1879436125 | LMX1B | c.140-31G= (n.140-31G=) c.71-31G= (n.71-31G=) | |
| 9 | g.126615352_126615356del | CA2691711494 | LMX1B | c.140-31_140-27del (n.140-31_140-27del) c.71-31_71-27del (n.71-31_71-27del) | gnomAD v4 |
| 9 | g.126615354C>A | CA1879436127 | LMX1B | c.140-29C>A (n.140-29C>A) c.71-29C>A (n.71-29C>A) | dbSNP gnomAD v4 |
| 9 | g.126615354C= | CA1879436126 | LMX1B | c.140-29C= (n.140-29C=) c.71-29C= (n.71-29C=) | |
| 9 | g.126615354C>G | CA1129176070 | LMX1B | c.140-29C>G (n.140-29C>G) c.71-29C>G (n.71-29C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615354C>T | CA5242232 | LMX1B | c.140-29C>T (n.140-29C>T) c.71-29C>T (n.71-29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615355G>A | CA860104764 | LMX1B | c.140-28G>A (n.140-28G>A) c.71-28G>A (n.71-28G>A) | dbSNP gnomAD v4 |
| 9 | g.126615355G= | CA1879436128 | LMX1B | c.140-28G= (n.140-28G=) c.71-28G= (n.71-28G=) | |
| 9 | g.126615355G>T | CA590568275 | LMX1B | c.140-28G>T (n.140-28G>T) c.71-28G>T (n.71-28G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615356G>A | CA2691711496 | LMX1B | c.140-27G>A (n.140-27G>A) c.71-27G>A (n.71-27G>A) | gnomAD v4 |
| 9 | g.126615356G= | CA1879436129 | LMX1B | c.140-27G= (n.140-27G=) c.71-27G= (n.71-27G=) | |
| 9 | g.126615356G>T | CA5242233 | LMX1B | c.140-27G>T (n.140-27G>T) c.71-27G>T (n.71-27G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615356_126615357insTT | CA2691711497 | LMX1B | c.140-27_140-26insTT (n.140-27_140-26insTT) c.71-27_71-26insTT (n.71-27_71-26insTT) | gnomAD v4 |
| 9 | g.126615357C>A | CA2691711499 | LMX1B | c.140-26C>A (n.140-26C>A) c.71-26C>A (n.71-26C>A) | gnomAD v4 |
| 9 | g.126615357C>T | CA2691711498 | LMX1B | c.140-26C>T (n.140-26C>T) c.71-26C>T (n.71-26C>T) | gnomAD v4 |
| 9 | g.126615358C= | CA1879436130 | LMX1B | c.140-25C= (n.140-25C=) c.71-25C= (n.71-25C=) | |
| 9 | g.126615358C>G | CA2579486838 | LMX1B | c.140-25C>G (n.140-25C>G) c.71-25C>G (n.71-25C>G) | |
| 9 | g.126615358C>T | CA590568278 | LMX1B | c.140-25C>T (n.140-25C>T) c.71-25C>T (n.71-25C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615358_126615359insAA | CA2691711500 | LMX1B | c.140-25_140-24insAA (n.140-25_140-24insAA) c.71-25_71-24insAA (n.71-25_71-24insAA) | gnomAD v4 |
| 9 | g.126615359G>A | CA860104769 | LMX1B | c.140-24G>A (n.140-24G>A) c.71-24G>A (n.71-24G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615359G>C | CA2527198603 | LMX1B | c.140-24G>C (n.140-24G>C) c.71-24G>C (n.71-24G>C) | gnomAD v4 |
| 9 | g.126615359G= | CA1879436131 | LMX1B | c.140-24G= (n.140-24G=) c.71-24G= (n.71-24G=) | |
| 9 | g.126615360G>A | CA2691711501 | LMX1B | c.140-23G>A (n.140-23G>A) c.71-23G>A (n.71-23G>A) | gnomAD v4 |
| 9 | g.126615361G>A | CA2691711502 | LMX1B | c.140-22G>A (n.140-22G>A) c.71-22G>A (n.71-22G>A) | gnomAD v4 |
| 9 | g.126615361G= | CA1879436132 | LMX1B | c.140-22G= (n.140-22G=) c.71-22G= (n.71-22G=) | |
| 9 | g.126615361G>T | CA1879436133 | LMX1B | c.140-22G>T (n.140-22G>T) c.71-22G>T (n.71-22G>T) | dbSNP gnomAD v4 |
| 9 | g.126615362C= | CA1879436134 | LMX1B | c.140-21C= (n.140-21C=) c.71-21C= (n.71-21C=) | |
| 9 | g.126615362C>G | CA2691711504 | LMX1B | c.140-21C>G (n.140-21C>G) c.71-21C>G (n.71-21C>G) | gnomAD v4 |
| 9 | g.126615362C>T | CA590568281 | LMX1B | c.140-21C>T (n.140-21C>T) c.71-21C>T (n.71-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615364_126615371del | CA2691711503 | LMX1B | c.140-19_140-12del (n.140-19_140-12del) c.71-19_71-12del (n.71-19_71-12del) | gnomAD v4 |
| 9 | g.126615365del | CA2579486839 | LMX1B | c.140-18del (n.140-18del) c.71-18del (n.71-18del) | |
| 9 | g.126615364T>A | CA2691711505 | LMX1B | c.140-19T>A (n.140-19T>A) c.71-19T>A (n.71-19T>A) | gnomAD v4 |
| 9 | g.126615364T>C | CA590568283 | LMX1B | c.140-19T>C (n.140-19T>C) c.71-19T>C (n.71-19T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615364T= | CA1879436135 | LMX1B | c.140-19T= (n.140-19T=) c.71-19T= (n.71-19T=) | |
| 9 | g.126615365_126615386dup | CA590568284 | LMX1B | c.140-18_143dup c.71-18_74dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615366C>T | CA2691711506 | LMX1B | c.140-17C>T (n.140-17C>T) c.71-17C>T (n.71-17C>T) | gnomAD v4 |
| 9 | g.126615367G>A | CA2691711508 | LMX1B | c.140-16G>A (n.140-16G>A) c.71-16G>A (n.71-16G>A) | gnomAD v4 |
| 9 | g.126615367G>T | CA2691711507 | LMX1B | c.140-16G>T (n.140-16G>T) c.71-16G>T (n.71-16G>T) | gnomAD v4 |
| 9 | g.126615368C>A | CA590568287 | LMX1B | c.140-15C>A (n.140-15C>A) c.71-15C>A (n.71-15C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615368C= | CA1879436136 | LMX1B | c.140-15C= (n.140-15C=) c.71-15C= (n.71-15C=) | |
| 9 | g.126615368C>T | CA590568289 | LMX1B | c.140-15C>T (n.140-15C>T) c.71-15C>T (n.71-15C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615369C= | CA1879436137 | LMX1B | c.140-14C= (n.140-14C=) c.71-14C= (n.71-14C=) | |
| 9 | g.126615369C>T | CA5242234 | LMX1B | c.140-14C>T (n.140-14C>T) c.71-14C>T (n.71-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615370C>A | CA2691711509 | LMX1B | c.140-13C>A (n.140-13C>A) c.71-13C>A (n.71-13C>A) | gnomAD v4 |
| 9 | g.126615370C= | CA1879436138 | LMX1B | c.140-13C= (n.140-13C=) c.71-13C= (n.71-13C=) | |
| 9 | g.126615370C>T | CA5242235 | LMX1B | c.140-13C>T (n.140-13C>T) c.71-13C>T (n.71-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615371T>G | CA2697558029 | LMX1B | c.140-12T>G (n.140-12T>G) c.71-12T>G (n.71-12T>G) | ClinVar |
| 9 | g.126615372G>A | CA1879436140 | LMX1B | c.140-11G>A (n.140-11G>A) c.71-11G>A (n.71-11G>A) | dbSNP gnomAD v4 |
| 9 | g.126615372G= | CA1879436139 | LMX1B | c.140-11G= (n.140-11G=) c.71-11G= (n.71-11G=) | |
| 9 | g.126615374G>A | CA2720561638 | LMX1B | c.140-9G>A (n.140-9G>A) c.71-9G>A (n.71-9G>A) | dbSNP |
| 9 | g.126615374G>T | CA2691711510 | LMX1B | c.140-9G>T (n.140-9G>T) c.71-9G>T (n.71-9G>T) | gnomAD v4 |
| 9 | g.126615375C>A | CA2691711511 | LMX1B | c.140-8C>A (n.140-8C>A) c.71-8C>A (n.71-8C>A) | gnomAD v4 |
| 9 | g.126615375C= | CA1879436141 | LMX1B | c.140-8C= (n.140-8C=) c.71-8C= (n.71-8C=) | |
| 9 | g.126615375C>T | CA1129176091 | LMX1B | c.140-8C>T (n.140-8C>T) c.71-8C>T (n.71-8C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615376G>A | CA2691711512 | LMX1B | c.140-7G>A (n.140-7G>A) c.71-7G>A (n.71-7G>A) | gnomAD v4 |
| 9 | g.126615376G>T | CA2691711513 | LMX1B | c.140-7G>T (n.140-7G>T) c.71-7G>T (n.71-7G>T) | gnomAD v4 |
| 9 | g.126615377C>A | CA2691711514 | LMX1B | c.140-6C>A (n.140-6C>A) c.71-6C>A (n.71-6C>A) | gnomAD v4 |
| 9 | g.126615377C>G | CA2691711515 | LMX1B | c.140-6C>G (n.140-6C>G) c.71-6C>G (n.71-6C>G) | gnomAD v4 |
| 9 | g.126615378T>C | CA2739265028 | LMX1B | c.140-5T>C (n.140-5T>C) c.71-5T>C (n.71-5T>C) | ClinVar |
| 9 | g.126615379A= | CA1879436142 | LMX1B | c.140-4A= (n.140-4A=) c.71-4A= (n.71-4A=) | |
| 9 | g.126615379A>C | CA2785963055 | LMX1B | c.140-4A>C (n.140-4A>C) c.71-4A>C (n.71-4A>C) | |
| 9 | g.126615379A>G | CA5242236 | LMX1B | c.140-4A>G (n.140-4A>G) c.71-4A>G (n.71-4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615380C= | CA1879436143 | LMX1B | c.140-3C= (n.140-3C=) c.71-3C= (n.71-3C=) | |
| 9 | g.126615380C>G | CA2580079537 | LMX1B | c.140-3C>G (n.140-3C>G) c.71-3C>G (n.71-3C>G) | ClinVar |
| 9 | g.126615380C>T | CA590568301 | LMX1B | c.140-3C>T (n.140-3C>T) c.71-3C>T (n.71-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615381A>C | CA374909833 | LMX1B | c.140-2A>C (n.140-2A>C) c.71-2A>C (n.71-2A>C) | |
| 9 | g.126615381A>G | CA374909834 | LMX1B | c.140-2A>G (n.140-2A>G) c.71-2A>G (n.71-2A>G) | |
| 9 | g.126615381A>T | CA374909835 | LMX1B | c.140-2A>T (n.140-2A>T) c.71-2A>T (n.71-2A>T) | |
| 9 | g.126615382G>A | CA374909836 | LMX1B | c.140-1G>A (n.140-1G>A) c.71-1G>A (n.71-1G>A) | ClinVar |
| 9 | g.126615382G>C | CA374909837 | LMX1B | c.140-1G>C (n.140-1G>C) c.71-1G>C (n.71-1G>C) | |
| 9 | g.126615382G>T | CA374909838 | LMX1B | c.140-1G>T (n.140-1G>T) c.71-1G>T (n.71-1G>T) | |
| 9 | g.126615383del | CA2739265029 | LMX1B | c.140del c.71del | ClinVar |
| 9 | g.126615383G>A | CA374909839 | LMX1B | c.140G>A (p.Gly47Asp) c.71G>A (p.Gly24Asp) | |
| 9 | g.126615383G>C | CA5242237 | LMX1B | c.140G>C (p.Gly47Ala) c.71G>C (p.Gly24Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615383G= | CA1879436144 | LMX1B | c.140G= (p.Gly47=) c.71G= (p.Gly24=) | |
| 9 | g.126615383G>T | CA374909840 | LMX1B | c.140G>T (p.Gly47Val) c.71G>T (p.Gly24Val) | gnomAD v4 |
| 9 | g.126615384C>A | CA467136262 | LMX1B | c.141C>A (p.Gly47=) c.72C>A (p.Gly24=) | gnomAD v4 |
| 9 | g.126615384C= | CA1879436145 | LMX1B | c.141C= (p.Gly47=) c.72C= (p.Gly24=) | |
| 9 | g.126615384C>G | CA467136263 | LMX1B | c.141C>G (p.Gly47=) c.72C>G (p.Gly24=) | |
| 9 | g.126615384C>T | CA5242238 | LMX1B | c.141C>T (p.Gly47=) c.72C>T (p.Gly24=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615385T>A | CA374909843 | LMX1B | c.142T>A (p.Ser48Thr) c.73T>A (p.Ser25Thr) | |
| 9 | g.126615385T>C | CA374909842 | LMX1B | c.142T>C (p.Ser48Pro) c.73T>C (p.Ser25Pro) | |
| 9 | g.126615385T>G | CA374909841 | LMX1B | c.142T>G (p.Ser48Ala) c.73T>G (p.Ser25Ala) | |
| 9 | g.126615386C>A | CA374909844 | LMX1B | c.143C>A (p.Ser48Tyr) c.74C>A (p.Ser25Tyr) | |
| 9 | g.126615386C= | CA1879436146 | LMX1B | c.143C= (p.Ser48=) c.74C= (p.Ser25=) | |
| 9 | g.126615386C>G | CA374909846 | LMX1B | c.143C>G (p.Ser48Cys) c.74C>G (p.Ser25Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615386C>T | CA374909845 | LMX1B | c.143C>T (p.Ser48Phe) c.74C>T (p.Ser25Phe) | |
| 9 | g.126615387C>A | CA467136264 | LMX1B | c.144C>A (p.Ser48=) c.75C>A (p.Ser25=) | |
| 9 | g.126615387C>G | CA467136265 | LMX1B | c.144C>G (p.Ser48=) c.75C>G (p.Ser25=) | |
| 9 | g.126615387C>T | CA467136266 | LMX1B | c.144C>T (p.Ser48=) c.75C>T (p.Ser25=) | gnomAD v4 |
| 9 | g.126615388G>A | CA374909847 | LMX1B | c.145G>A (p.Asp49Asn) c.76G>A (p.Asp26Asn) | gnomAD v4 |
| 9 | g.126615388G>C | CA374909848 | LMX1B | c.145G>C (p.Asp49His) c.76G>C (p.Asp26His) | |
| 9 | g.126615388G>T | CA374909849 | LMX1B | c.145G>T (p.Asp49Tyr) c.76G>T (p.Asp26Tyr) | |
| 9 | g.126615389A>C | CA374909850 | LMX1B | c.146A>C (p.Asp49Ala) c.77A>C (p.Asp26Ala) | |
| 9 | g.126615389A>G | CA374909851 | LMX1B | c.146A>G (p.Asp49Gly) c.77A>G (p.Asp26Gly) | gnomAD v4 |
| 9 | g.126615389A>T | CA374909852 | LMX1B | c.146A>T (p.Asp49Val) c.77A>T (p.Asp26Val) | |
| 9 | g.126615390C>A | CA374909853 | LMX1B | c.147C>A (p.Asp49Glu) c.78C>A (p.Asp26Glu) | gnomAD v4 |
| 9 | g.126615390C= | CA1879436147 | LMX1B | c.147C= (p.Asp49=) c.78C= (p.Asp26=) | |
| 9 | g.126615390C>G | CA374909854 | LMX1B | c.147C>G (p.Asp49Glu) c.78C>G (p.Asp26Glu) | gnomAD v4 |
| 9 | g.126615390C>T | CA467136267 | LMX1B | c.147C>T (p.Asp49=) c.78C>T (p.Asp26=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615391T>A | CA374909855 | LMX1B | c.148T>A (p.Cys50Ser) c.79T>A (p.Cys27Ser) | gnomAD v4 |
| 9 | g.126615391T>C | CA374909856 | LMX1B | c.148T>C (p.Cys50Arg) c.79T>C (p.Cys27Arg) | gnomAD v4 |
| 9 | g.126615391T>G | CA374909857 | LMX1B | c.148T>G (p.Cys50Gly) c.79T>G (p.Cys27Gly) | |
| 9 | g.126615392G>A | CA374909860 | LMX1B | c.149G>A (p.Cys50Tyr) c.80G>A (p.Cys27Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615392G>C | CA374909859 | LMX1B | c.149G>C (p.Cys50Ser) c.80G>C (p.Cys27Ser) | gnomAD v4 |
| 9 | g.126615392G= | CA1879436148 | LMX1B | c.149G= (p.Cys50=) c.80G= (p.Cys27=) | |
| 9 | g.126615392G>T | CA374909858 | LMX1B | c.149G>T (p.Cys50Phe) c.80G>T (p.Cys27Phe) | |
| 9 | g.126615393C>A | CA374909861 | LMX1B | c.150C>A (p.Cys50Ter) c.81C>A (p.Cys27Ter) | gnomAD v4 |
| 9 | g.126615393C= | CA1879436149 | LMX1B | c.150C= (p.Cys50=) c.81C= (p.Cys27=) | |
| 9 | g.126615393C>G | CA374909862 | LMX1B | c.150C>G (p.Cys50Trp) c.81C>G (p.Cys27Trp) | |
| 9 | g.126615393C>T | CA5242239 | LMX1B | c.150C>T (p.Cys50=) c.81C>T (p.Cys27=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615394C>A | CA374909863 | LMX1B | c.151C>A (p.Pro51Thr) c.82C>A (p.Pro28Thr) | |
| 9 | g.126615394C= | CA1879436150 | LMX1B | c.151C= (p.Pro51=) c.82C= (p.Pro28=) | |
| 9 | g.126615394C>G | CA374909864 | LMX1B | c.151C>G (p.Pro51Ala) c.82C>G (p.Pro28Ala) | |
| 9 | g.126615394C>T | CA374909865 | LMX1B | c.151C>T (p.Pro51Ser) c.82C>T (p.Pro28Ser) | dbSNP |
| 9 | g.126615395C>A | CA374909866 | LMX1B | c.152C>A (p.Pro51Gln) c.83C>A (p.Pro28Gln) | gnomAD v4 |
| 9 | g.126615395C>G | CA374909867 | LMX1B | c.152C>G (p.Pro51Arg) c.83C>G (p.Pro28Arg) | |
| 9 | g.126615395C>T | CA374909868 | LMX1B | c.152C>T (p.Pro51Leu) c.83C>T (p.Pro28Leu) | gnomAD v4 |
| 9 | g.126615396G>A | CA467136270 | LMX1B | c.153G>A (p.Pro51=) c.84G>A (p.Pro28=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615396G>C | CA467136269 | LMX1B | c.153G>C (p.Pro51=) c.84G>C (p.Pro28=) | |
| 9 | g.126615396G= | CA1879436151 | LMX1B | c.153G= (p.Pro51=) c.84G= (p.Pro28=) | |
| 9 | g.126615396G>T | CA467136268 | LMX1B | c.153G>T (p.Pro51=) c.84G>T (p.Pro28=) | dbSNP gnomAD v4 |
| 9 | g.126615398_126615424del | CA2691711516 | LMX1B | c.155_181del (p.His52_Gln60del) c.86_112del (p.His29_Gln37del) | gnomAD v4 |
| 9 | g.126615397C>A | CA374909869 | LMX1B | c.154C>A (p.His52Asn) c.85C>A (p.His29Asn) | |
| 9 | g.126615397C>G | CA374909870 | LMX1B | c.154C>G (p.His52Asp) c.85C>G (p.His29Asp) | |
| 9 | g.126615397C>T | CA374909871 | LMX1B | c.154C>T (p.His52Tyr) c.85C>T (p.His29Tyr) | COSMIC COSMIC COSMIC |
| 9 | g.126615398A>C | CA374909874 | LMX1B | c.155A>C (p.His52Pro) c.86A>C (p.His29Pro) | |
| 9 | g.126615398A>G | CA374909873 | LMX1B | c.155A>G (p.His52Arg) c.86A>G (p.His29Arg) | |
| 9 | g.126615398A>T | CA374909872 | LMX1B | c.155A>T (p.His52Leu) c.86A>T (p.His29Leu) | |
| 9 | g.126615399T>A | CA374909876 | LMX1B | c.156T>A (p.His52Gln) c.87T>A (p.His29Gln) | |
| 9 | g.126615399T>C | CA467136271 | LMX1B | c.156T>C (p.His52=) c.87T>C (p.His29=) | |
| 9 | g.126615399T>G | CA374909875 | LMX1B | c.156T>G (p.His52Gln) c.87T>G (p.His29Gln) | |
| 9 | g.126615400C>A | CA374909877 | LMX1B | c.157C>A (p.Pro53Thr) c.88C>A (p.Pro30Thr) | |
| 9 | g.126615400C= | CA1879436152 | LMX1B | c.157C= (p.Pro53=) c.88C= (p.Pro30=) | |
| 9 | g.126615400C>G | CA374909878 | LMX1B | c.157C>G (p.Pro53Ala) c.88C>G (p.Pro30Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615400C>T | CA374909879 | LMX1B | c.157C>T (p.Pro53Ser) c.88C>T (p.Pro30Ser) | gnomAD v4 |
| 9 | g.126615401C>A | CA374909880 | LMX1B | c.158C>A (p.Pro53His) c.89C>A (p.Pro30His) | |
| 9 | g.126615401C= | CA1879436153 | LMX1B | c.158C= (p.Pro53=) c.89C= (p.Pro30=) | |
| 9 | g.126615401C>G | CA374909881 | LMX1B | c.158C>G (p.Pro53Arg) c.89C>G (p.Pro30Arg) | |
| 9 | g.126615401C>T | CA374909882 | LMX1B | c.158C>T (p.Pro53Leu) c.89C>T (p.Pro30Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615402C>A | CA467136272 | LMX1B | c.159C>A (p.Pro53=) c.90C>A (p.Pro30=) | |
| 9 | g.126615402C>G | CA467136273 | LMX1B | c.159C>G (p.Pro53=) c.90C>G (p.Pro30=) | |
| 9 | g.126615402C>T | CA467136274 | LMX1B | c.159C>T (p.Pro53=) c.90C>T (p.Pro30=) | gnomAD v4 |
| 9 | g.126615403G>A | CA374909883 | LMX1B | c.160G>A (p.Ala54Thr) c.91G>A (p.Ala31Thr) | gnomAD v4 |
| 9 | g.126615403G>C | CA374909884 | LMX1B | c.160G>C (p.Ala54Pro) c.91G>C (p.Ala31Pro) | gnomAD v4 |
| 9 | g.126615403G>T | CA374909885 | LMX1B | c.160G>T (p.Ala54Ser) c.91G>T (p.Ala31Ser) | gnomAD v4 |
| 9 | g.126615404C>A | CA374909886 | LMX1B | c.161C>A (p.Ala54Asp) c.92C>A (p.Ala31Asp) | |
| 9 | g.126615404C= | CA1879436154 | LMX1B | c.161C= (p.Ala54=) c.92C= (p.Ala31=) | |
| 9 | g.126615404C>G | CA374909887 | LMX1B | c.161C>G (p.Ala54Gly) c.92C>G (p.Ala31Gly) | |
| 9 | g.126615404C>T | CA5242240 | LMX1B | c.161C>T (p.Ala54Val) c.92C>T (p.Ala31Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615405C>A | CA5242241 | LMX1B | c.162C>A (p.Ala54=) c.93C>A (p.Ala31=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615405C= | CA1879436155 | LMX1B | c.162C= (p.Ala54=) c.93C= (p.Ala31=) | |
| 9 | g.126615405C>G | CA467136275 | LMX1B | c.162C>G (p.Ala54=) c.93C>G (p.Ala31=) | dbSNP gnomAD v4 |
| 9 | g.126615405C>T | CA5242242 | LMX1B | c.162C>T (p.Ala54=) c.93C>T (p.Ala31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615406G>A | CA374909888 | LMX1B | c.163G>A (p.Val55Ile) c.94G>A (p.Val32Ile) | dbSNP gnomAD v4 |
| 9 | g.126615406G>C | CA374909889 | LMX1B | c.163G>C (p.Val55Leu) c.94G>C (p.Val32Leu) | |
| 9 | g.126615406G= | CA1879436156 | LMX1B | c.163G= (p.Val55=) c.94G= (p.Val32=) | |
| 9 | g.126615406G>T | CA374909890 | LMX1B | c.163G>T (p.Val55Phe) c.94G>T (p.Val32Phe) | |
| 9 | g.126615407T>A | CA374909891 | LMX1B | c.164T>A (p.Val55Asp) c.95T>A (p.Val32Asp) | |
| 9 | g.126615407T>C | CA374909892 | LMX1B | c.164T>C (p.Val55Ala) c.95T>C (p.Val32Ala) | |
| 9 | g.126615407T>G | CA374909893 | LMX1B | c.164T>G (p.Val55Gly) c.95T>G (p.Val32Gly) | |
| 9 | g.126615408C>A | CA467136276 | LMX1B | c.165C>A (p.Val55=) c.96C>A (p.Val32=) | |
| 9 | g.126615408C>G | CA467136277 | LMX1B | c.165C>G (p.Val55=) c.96C>G (p.Val32=) | |
| 9 | g.126615408C>T | CA467136278 | LMX1B | c.165C>T (p.Val55=) c.96C>T (p.Val32=) | gnomAD v4 |
| 9 | g.126615409T>A | CA374909894 | LMX1B | c.166T>A (p.Cys56Ser) c.97T>A (p.Cys33Ser) | |
| 9 | g.126615409T>C | CA374909895 | LMX1B | c.166T>C (p.Cys56Arg) c.97T>C (p.Cys33Arg) | |
| 9 | g.126615409T>G | CA374909896 | LMX1B | c.166T>G (p.Cys56Gly) c.97T>G (p.Cys33Gly) | |
| 9 | g.126615410G>A | CA374909897 | LMX1B | c.167G>A (p.Cys56Tyr) c.98G>A (p.Cys33Tyr) | |
| 9 | g.126615410G>C | CA374909898 | LMX1B | c.167G>C (p.Cys56Ser) c.98G>C (p.Cys33Ser) | |
| 9 | g.126615410G>T | CA374909899 | LMX1B | c.167G>T (p.Cys56Phe) c.98G>T (p.Cys33Phe) | gnomAD v4 |
| 9 | g.126615411C>A | CA374909900 | LMX1B | c.168C>A (p.Cys56Ter) c.99C>A (p.Cys33Ter) | |
| 9 | g.126615411C>G | CA374909901 | LMX1B | c.168C>G (p.Cys56Trp) c.99C>G (p.Cys33Trp) | |
| 9 | g.126615411C>T | CA467136279 | LMX1B | c.168C>T (p.Cys56=) c.99C>T (p.Cys33=) | gnomAD v4 |
| 9 | g.126615412G>A | CA374909903 | LMX1B | c.169G>A (p.Glu57Lys) c.100G>A (p.Glu34Lys) | |
| 9 | g.126615412G>C | CA374909904 | LMX1B | c.169G>C (p.Glu57Gln) c.100G>C (p.Glu34Gln) | |
| 9 | g.126615412G= | CA1879436157 | LMX1B | c.169G= (p.Glu57=) c.100G= (p.Glu34=) | |
| 9 | g.126615412G>T | CA374909902 | LMX1B | c.169G>T (p.Glu57Ter) c.100G>T (p.Glu34Ter) | ClinVar dbSNP |
| 9 | g.126615413A>C | CA374909905 | LMX1B | c.170A>C (p.Glu57Ala) c.101A>C (p.Glu34Ala) | |
| 9 | g.126615413A>G | CA374909907 | LMX1B | c.170A>G (p.Glu57Gly) c.101A>G (p.Glu34Gly) | |
| 9 | g.126615413A>T | CA374909906 | LMX1B | c.170A>T (p.Glu57Val) c.101A>T (p.Glu34Val) | |
| 9 | g.126615414G>A | CA467136280 | LMX1B | c.171G>A (p.Glu57=) c.102G>A (p.Glu34=) | |
| 9 | g.126615414G>C | CA374909908 | LMX1B | c.171G>C (p.Glu57Asp) c.102G>C (p.Glu34Asp) | |
| 9 | g.126615414G>T | CA374909909 | LMX1B | c.171G>T (p.Glu57Asp) c.102G>T (p.Glu34Asp) | gnomAD v4 |
| 9 | g.126615415G>A | CA374909910 | LMX1B | c.172G>A (p.Gly58Ser) c.103G>A (p.Gly35Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615415G>C | CA374909911 | LMX1B | c.172G>C (p.Gly58Arg) c.103G>C (p.Gly35Arg) | |
| 9 | g.126615415G= | CA1879436158 | LMX1B | c.172G= (p.Gly58=) c.103G= (p.Gly35=) | |
| 9 | g.126615415G>T | CA374909912 | LMX1B | c.172G>T (p.Gly58Cys) c.103G>T (p.Gly35Cys) | |
| 9 | g.126615416G>A | CA374909913 | LMX1B | c.173G>A (p.Gly58Asp) c.104G>A (p.Gly35Asp) | gnomAD v4 |
| 9 | g.126615416G>C | CA374909914 | LMX1B | c.173G>C (p.Gly58Ala) c.104G>C (p.Gly35Ala) | |
| 9 | g.126615416G>T | CA374909915 | LMX1B | c.173G>T (p.Gly58Val) c.104G>T (p.Gly35Val) | gnomAD v4 |
| 9 | g.126615417C>A | CA467136281 | LMX1B | c.174C>A (p.Gly58=) c.105C>A (p.Gly35=) | |
| 9 | g.126615417C>G | CA467136282 | LMX1B | c.174C>G (p.Gly58=) c.105C>G (p.Gly35=) | |
| 9 | g.126615417C>T | CA467136283 | LMX1B | c.174C>T (p.Gly58=) c.105C>T (p.Gly35=) | |
| 9 | g.126615418del | CA2691711517 | LMX1B | c.175del (p.Cys59AlafsTer10) c.106del (p.Cys36AlafsTer10) | gnomAD v4 |
| 9 | g.126615418T>A | CA374909916 | LMX1B | c.175T>A (p.Cys59Ser) c.106T>A (p.Cys36Ser) | |
| 9 | g.126615418T>C | CA374909917 | LMX1B | c.175T>C (p.Cys59Arg) c.106T>C (p.Cys36Arg) | ClinVar gnomAD v4 |
| 9 | g.126615418T>G | CA374909918 | LMX1B | c.175T>G (p.Cys59Gly) c.106T>G (p.Cys36Gly) | |
| 9 | g.126615419G>A | CA374909921 | LMX1B | c.176G>A (p.Cys59Tyr) c.107G>A (p.Cys36Tyr) | |
| 9 | g.126615419G>C | CA374909919 | LMX1B | c.176G>C (p.Cys59Ser) c.107G>C (p.Cys36Ser) | |
| 9 | g.126615419G= | CA1879436159 | LMX1B | c.176G= (p.Cys59=) c.107G= (p.Cys36=) | |
| 9 | g.126615419G>T | CA374909920 | LMX1B | c.176G>T (p.Cys59Phe) c.107G>T (p.Cys36Phe) | ClinVar dbSNP gnomAD v4 |
| 9 | g.126615420C>A | CA374909922 | LMX1B | c.177C>A (p.Cys59Ter) c.108C>A (p.Cys36Ter) | |
| 9 | g.126615420C>G | CA374909923 | LMX1B | c.177C>G (p.Cys59Trp) c.108C>G (p.Cys36Trp) | |
| 9 | g.126615420C>T | CA467136284 | LMX1B | c.177C>T (p.Cys59=) c.108C>T (p.Cys36=) | gnomAD v4 |
| 9 | g.126615421C>A | CA374909924 | LMX1B | c.178C>A (p.Gln60Lys) c.109C>A (p.Gln37Lys) | |
| 9 | g.126615421C>G | CA374909925 | LMX1B | c.178C>G (p.Gln60Glu) c.109C>G (p.Gln37Glu) | |
| 9 | g.126615421C>T | CA374909926 | LMX1B | c.178C>T (p.Gln60Ter) c.109C>T (p.Gln37Ter) | ClinVar dbSNP |
| 9 | g.126615422A>C | CA374909927 | LMX1B | c.179A>C (p.Gln60Pro) c.110A>C (p.Gln37Pro) | |
| 9 | g.126615422A>G | CA374909928 | LMX1B | c.179A>G (p.Gln60Arg) c.110A>G (p.Gln37Arg) | gnomAD v4 |
| 9 | g.126615422A>T | CA374909929 | LMX1B | c.179A>T (p.Gln60Leu) c.110A>T (p.Gln37Leu) | |
| 9 | g.126615422_126615425dup | CA2573332442 | LMX1B | c.179_182dup (p.Pro62AlafsTer?) c.110_113dup (p.Pro39AlafsTer?) | |
| 9 | g.126615423G>A | CA5242243 | LMX1B | c.180G>A (p.Gln60=) c.111G>A (p.Gln37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615423G>C | CA374909930 | LMX1B | c.180G>C (p.Gln60His) c.111G>C (p.Gln37His) | |
| 9 | g.126615423G= | CA1879436160 | LMX1B | c.180G= (p.Gln60=) c.111G= (p.Gln37=) | |
| 9 | g.126615423G>T | CA374909931 | LMX1B | c.180G>T (p.Gln60His) c.111G>T (p.Gln37His) | |
| 9 | g.126615424C>A | CA467136286 | LMX1B | c.181C>A (p.Arg61=) c.112C>A (p.Arg38=) | |
| 9 | g.126615424C= | CA1879436161 | LMX1B | c.181C= (p.Arg61=) c.112C= (p.Arg38=) | |
| 9 | g.126615424C>G | CA5242244 | LMX1B | c.181C>G (p.Arg61Gly) c.112C>G (p.Arg38Gly) | dbSNP ExAC gnomAD v2 |
| 9 | g.126615424C>T | CA374909932 | LMX1B | c.181C>T (p.Arg61Trp) c.112C>T (p.Arg38Trp) | gnomAD v4 |
| 9 | g.126615425G>A | CA374909933 | LMX1B | c.182G>A (p.Arg61Gln) c.113G>A (p.Arg38Gln) | |
| 9 | g.126615425G>C | CA374909934 | LMX1B | c.182G>C (p.Arg61Pro) c.113G>C (p.Arg38Pro) | ClinVar dbSNP |
| 9 | g.126615425G>T | CA374909935 | LMX1B | c.182G>T (p.Arg61Leu) c.113G>T (p.Arg38Leu) | |
| 9 | g.126615426G>A | CA467136287 | LMX1B | c.183G>A (p.Arg61=) c.114G>A (p.Arg38=) | |
| 9 | g.126615426G>C | CA467136288 | LMX1B | c.183G>C (p.Arg61=) c.114G>C (p.Arg38=) | |
| 9 | g.126615426G= | CA1879436162 | LMX1B | c.183G= (p.Arg61=) c.114G= (p.Arg38=) | |
| 9 | g.126615426G>T | CA5242245 | LMX1B | c.183G>T (p.Arg61=) c.114G>T (p.Arg38=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615427C>A | CA5242247 | LMX1B | c.184C>A (p.Pro62Thr) c.115C>A (p.Pro39Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615427C= | CA1879436163 | LMX1B | c.184C= (p.Pro62=) c.115C= (p.Pro39=) | |
| 9 | g.126615427C>G | CA374909936 | LMX1B | c.184C>G (p.Pro62Ala) c.115C>G (p.Pro39Ala) | |
| 9 | g.126615427C>T | CA5242246 | LMX1B | c.184C>T (p.Pro62Ser) c.115C>T (p.Pro39Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615429del | CA2695211119 | LMX1B | c.186del (p.Ile63SerfsTer6) c.117del (p.Ile40SerfsTer6) | |
| 9 | g.126615428C>A | CA374909937 | LMX1B | c.185C>A (p.Pro62His) c.116C>A (p.Pro39His) | |
| 9 | g.126615428C>G | CA374909939 | LMX1B | c.185C>G (p.Pro62Arg) c.116C>G (p.Pro39Arg) | gnomAD v4 |
| 9 | g.126615428C>T | CA374909938 | LMX1B | c.185C>T (p.Pro62Leu) c.116C>T (p.Pro39Leu) | gnomAD v4 |
| 9 | g.126615429C>A | CA467136291 | LMX1B | c.186C>A (p.Pro62=) c.117C>A (p.Pro39=) | |
| 9 | g.126615429C= | CA1879436164 | LMX1B | c.186C= (p.Pro62=) c.117C= (p.Pro39=) | |
| 9 | g.126615429C>G | CA467136290 | LMX1B | c.186C>G (p.Pro62=) c.117C>G (p.Pro39=) | |
| 9 | g.126615429C>T | CA5242248 | LMX1B | c.186C>T (p.Pro62=) c.117C>T (p.Pro39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615429_126615430insGAG | CA590568323 | LMX1B | c.186_187insGAG (p.Pro62_Ile63insGlu) c.117_118insGAG (p.Pro39_Ile40insGlu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615430A>C | CA374909940 | LMX1B | c.187A>C (p.Ile63Leu) c.118A>C (p.Ile40Leu) | |
| 9 | g.126615430A>G | CA374909941 | LMX1B | c.187A>G (p.Ile63Val) c.118A>G (p.Ile40Val) | |
| 9 | g.126615430A>T | CA374909942 | LMX1B | c.187A>T (p.Ile63Phe) c.118A>T (p.Ile40Phe) | gnomAD v4 |
| 9 | g.126615431T>A | CA374909943 | LMX1B | c.188T>A (p.Ile63Asn) c.119T>A (p.Ile40Asn) | |
| 9 | g.126615431T>C | CA374909945 | LMX1B | c.188T>C (p.Ile63Thr) c.119T>C (p.Ile40Thr) | |
| 9 | g.126615431T>G | CA374909944 | LMX1B | c.188T>G (p.Ile63Ser) c.119T>G (p.Ile40Ser) | |
| 9 | g.126615432C>A | CA467136293 | LMX1B | c.189C>A (p.Ile63=) c.120C>A (p.Ile40=) | |
| 9 | g.126615432C= | CA1879436165 | LMX1B | c.189C= (p.Ile63=) c.120C= (p.Ile40=) | |
| 9 | g.126615432C>G | CA374909946 | LMX1B | c.189C>G (p.Ile63Met) c.120C>G (p.Ile40Met) | |
| 9 | g.126615432C>T | CA467136294 | LMX1B | c.189C>T (p.Ile63=) c.120C>T (p.Ile40=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615433T>A | CA374909947 | LMX1B | c.190T>A (p.Ser64Thr) c.121T>A (p.Ser41Thr) | |
| 9 | g.126615433T>C | CA374909948 | LMX1B | c.190T>C (p.Ser64Pro) c.121T>C (p.Ser41Pro) | |
| 9 | g.126615433T>G | CA374909949 | LMX1B | c.190T>G (p.Ser64Ala) c.121T>G (p.Ser41Ala) | |
| 9 | g.126615433T= | CA1879436166 | LMX1B | c.190T= (p.Ser64=) c.121T= (p.Ser41=) | |
| 9 | g.126615434C>A | CA374909950 | LMX1B | c.191C>A (p.Ser64Tyr) c.122C>A (p.Ser41Tyr) | |
| 9 | g.126615434C= | CA1879436167 | LMX1B | c.191C= (p.Ser64=) c.122C= (p.Ser41=) | |
| 9 | g.126615434C>G | CA374909951 | LMX1B | c.191C>G (p.Ser64Cys) c.122C>G (p.Ser41Cys) | |
| 9 | g.126615434C>T | CA5242249 | LMX1B | c.191C>T (p.Ser64Phe) c.122C>T (p.Ser41Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615435dup | CA10654917 | LMX1B | c.192dup (p.Asp65ArgfsTer?) c.123dup (p.Asp42ArgfsTer?) | ClinVar dbSNP |
| 9 | g.126615435C>A | CA467136296 | LMX1B | c.192C>A (p.Ser64=) c.123C>A (p.Ser41=) | gnomAD v4 |
| 9 | g.126615435C= | CA1879436168 | LMX1B | c.192C= (p.Ser64=) c.123C= (p.Ser41=) | |
| 9 | g.126615435C>G | CA467136297 | LMX1B | c.192C>G (p.Ser64=) c.123C>G (p.Ser41=) | ClinVar dbSNP |
| 9 | g.126615435C>T | CA5242250 | LMX1B | c.192C>T (p.Ser64=) c.123C>T (p.Ser41=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615436G>A | CA374909952 | LMX1B | c.193G>A (p.Asp65Asn) c.124G>A (p.Asp42Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615436G>C | CA374909953 | LMX1B | c.193G>C (p.Asp65His) c.124G>C (p.Asp42His) | |
| 9 | g.126615436G= | CA1879436169 | LMX1B | c.193G= (p.Asp65=) c.124G= (p.Asp42=) | |
| 9 | g.126615436G>T | CA374909954 | LMX1B | c.193G>T (p.Asp65Tyr) c.124G>T (p.Asp42Tyr) | ClinVar gnomAD v4 |
| 9 | g.126615437A>C | CA374909957 | LMX1B | c.194A>C (p.Asp65Ala) c.125A>C (p.Asp42Ala) | gnomAD v4 |
| 9 | g.126615437A>G | CA374909956 | LMX1B | c.194A>G (p.Asp65Gly) c.125A>G (p.Asp42Gly) | |
| 9 | g.126615437A>T | CA374909955 | LMX1B | c.194A>T (p.Asp65Val) c.125A>T (p.Asp42Val) | |
| 9 | g.126615438C>A | CA374909958 | LMX1B | c.195C>A (p.Asp65Glu) c.126C>A (p.Asp42Glu) | |
| 9 | g.126615438C>G | CA374909959 | LMX1B | c.195C>G (p.Asp65Glu) c.126C>G (p.Asp42Glu) | |
| 9 | g.126615438C>T | CA467136299 | LMX1B | c.195C>T (p.Asp65=) c.126C>T (p.Asp42=) | |
| 9 | g.126615439C>A | CA374909960 | LMX1B | c.196C>A (p.Arg66Ser) c.127C>A (p.Arg43Ser) | COSMIC COSMIC COSMIC |
| 9 | g.126615439C= | CA1879436170 | LMX1B | c.196C= (p.Arg66=) c.127C= (p.Arg43=) | |
| 9 | g.126615439C>G | CA374909962 | LMX1B | c.196C>G (p.Arg66Gly) c.127C>G (p.Arg43Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615439C>T | CA374909961 | LMX1B | c.196C>T (p.Arg66Cys) c.127C>T (p.Arg43Cys) | gnomAD v4 |
| 9 | g.126615440G>A | CA374909963 | LMX1B | c.197G>A (p.Arg66His) c.128G>A (p.Arg43His) | gnomAD v4 |
| 9 | g.126615440G>C | CA374909965 | LMX1B | c.197G>C (p.Arg66Pro) c.128G>C (p.Arg43Pro) | |
| 9 | g.126615440G>T | CA374909964 | LMX1B | c.197G>T (p.Arg66Leu) c.128G>T (p.Arg43Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.126615441C>A | CA467136300 | LMX1B | c.198C>A (p.Arg66=) c.129C>A (p.Arg43=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615441C= | CA1879436171 | LMX1B | c.198C= (p.Arg66=) c.129C= (p.Arg43=) | |
| 9 | g.126615441C>G | CA467136302 | LMX1B | c.198C>G (p.Arg66=) c.129C>G (p.Arg43=) | |
| 9 | g.126615441C>T | CA467136304 | LMX1B | c.198C>T (p.Arg66=) c.129C>T (p.Arg43=) | gnomAD v4 |
| 9 | g.126615442T>A | CA374909966 | LMX1B | c.199T>A (p.Phe67Ile) c.130T>A (p.Phe44Ile) | |
| 9 | g.126615442T>C | CA374909967 | LMX1B | c.199T>C (p.Phe67Leu) c.130T>C (p.Phe44Leu) | gnomAD v4 |
| 9 | g.126615442T>G | CA374909968 | LMX1B | c.199T>G (p.Phe67Val) c.130T>G (p.Phe44Val) | |
| 9 | g.126615443T>A | CA374909969 | LMX1B | c.200T>A (p.Phe67Tyr) c.131T>A (p.Phe44Tyr) | |
| 9 | g.126615443T>C | CA374909970 | LMX1B | c.200T>C (p.Phe67Ser) c.131T>C (p.Phe44Ser) | |
| 9 | g.126615443T>G | CA374909971 | LMX1B | c.200T>G (p.Phe67Cys) c.131T>G (p.Phe44Cys) | |
| 9 | g.126615444C>A | CA374909972 | LMX1B | c.201C>A (p.Phe67Leu) c.132C>A (p.Phe44Leu) | |
| 9 | g.126615444C>G | CA374909973 | LMX1B | c.201C>G (p.Phe67Leu) c.132C>G (p.Phe44Leu) | |
| 9 | g.126615444C>T | CA467136306 | LMX1B | c.201C>T (p.Phe67=) c.132C>T (p.Phe44=) | gnomAD v4 |
| 9 | g.126615445C>A | CA374909974 | LMX1B | c.202C>A (p.Leu68Met) c.133C>A (p.Leu45Met) | |
| 9 | g.126615445C>G | CA374909975 | LMX1B | c.202C>G (p.Leu68Val) c.133C>G (p.Leu45Val) | gnomAD v4 |
| 9 | g.126615445C>T | CA467136307 | LMX1B | c.202C>T (p.Leu68=) c.133C>T (p.Leu45=) | |
| 9 | g.126615446T>A | CA374909978 | LMX1B | c.203T>A (p.Leu68Gln) c.134T>A (p.Leu45Gln) | |
| 9 | g.126615446T>C | CA374909977 | LMX1B | c.203T>C (p.Leu68Pro) c.134T>C (p.Leu45Pro) | gnomAD v4 |
| 9 | g.126615446T>G | CA374909976 | LMX1B | c.203T>G (p.Leu68Arg) c.134T>G (p.Leu45Arg) | |
| 9 | g.126615447G>A | CA467136309 | LMX1B | c.204G>A (p.Leu68=) c.135G>A (p.Leu45=) | |
| 9 | g.126615447G>C | CA467136310 | LMX1B | c.204G>C (p.Leu68=) c.135G>C (p.Leu45=) | |
| 9 | g.126615447G>T | CA467136311 | LMX1B | c.204G>T (p.Leu68=) c.135G>T (p.Leu45=) |