| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.65238447del | CA2796331406 | LEMD3 | c.1696-55del (n.1696-55del) c.1693-55del (n.1693-55del) | |
| 12 | g.65238447A>G | CA2619669413 | LEMD3 | c.1696-55A>G (n.1696-55A>G) c.1693-55A>G (n.1693-55A>G) | gnomAD v4 |
| 12 | g.65238447A>T | CA2575215354 | LEMD3 | c.1696-55A>T (n.1696-55A>T) c.1693-55A>T (n.1693-55A>T) | gnomAD v4 |
| 12 | g.65238448C>A | CA2575215355 | LEMD3 | c.1696-54C>A (n.1696-54C>A) c.1693-54C>A (n.1693-54C>A) | gnomAD v4 |
| 12 | g.65238448C= | CA2042444121 | LEMD3 | c.1696-54C= (n.1696-54C=) c.1693-54C= (n.1693-54C=) | |
| 12 | g.65238448C>G | CA238915053 | LEMD3 | c.1696-54C>G (n.1696-54C>G) c.1693-54C>G (n.1693-54C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238448C>T | CA2575215356 | LEMD3 | c.1696-54C>T (n.1696-54C>T) c.1693-54C>T (n.1693-54C>T) | gnomAD v4 |
| 12 | g.65238448_65238450delinsCAG | CA2042444122 | LEMD3 | c.1696-54_1696-52delinsCAG (n.1696-54_1696-52delinsCAG) c.1693-54_1693-52delinsCAG (n.1693-54_1693-52delinsCAG) | |
| 12 | g.65238453_65238454del | CA691027712 | LEMD3 | c.1696-49_1696-48del (n.1696-49_1696-48del) c.1693-49_1693-48del (n.1693-49_1693-48del) | dbSNP gnomAD v4 |
| 12 | g.65238450G>T | CA2575215357 | LEMD3 | c.1696-52G>T (n.1696-52G>T) c.1693-52G>T (n.1693-52G>T) | gnomAD v4 |
| 12 | g.65238450_65238451delinsGA | CA2042444124 | LEMD3 | c.1696-52_1696-51delinsGA (n.1696-52_1696-51delinsGA) c.1693-52_1693-51delinsGA (n.1693-52_1693-51delinsGA) | |
| 12 | g.65238451del | CA605709993 | LEMD3 | c.1696-51del (n.1696-51del) c.1693-51del (n.1693-51del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238452G>T | CA2575215358 | LEMD3 | c.1696-50G>T (n.1696-50G>T) c.1693-50G>T (n.1693-50G>T) | gnomAD v4 |
| 12 | g.65238454G>C | CA605709994 | LEMD3 | c.1696-48G>C (n.1696-48G>C) c.1693-48G>C (n.1693-48G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65238454G= | CA2042444127 | LEMD3 | c.1696-48G= (n.1696-48G=) c.1693-48G= (n.1693-48G=) | |
| 12 | g.65238456C>A | CA2619669414 | LEMD3 | c.1696-46C>A (n.1696-46C>A) c.1693-46C>A (n.1693-46C>A) | gnomAD v4 |
| 12 | g.65238456C= | CA2042444129 | LEMD3 | c.1696-46C= (n.1696-46C=) c.1693-46C= (n.1693-46C=) | |
| 12 | g.65238456C>T | CA605709995 | LEMD3 | c.1696-46C>T (n.1696-46C>T) c.1693-46C>T (n.1693-46C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238457G>A | CA6671011 | LEMD3 | c.1696-45G>A (n.1696-45G>A) c.1693-45G>A (n.1693-45G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238457G= | CA2042444131 | LEMD3 | c.1696-45G= (n.1696-45G=) c.1693-45G= (n.1693-45G=) | |
| 12 | g.65238457G>T | CA2575215359 | LEMD3 | c.1696-45G>T (n.1696-45G>T) c.1693-45G>T (n.1693-45G>T) | gnomAD v4 |
| 12 | g.65238459A= | CA2042444134 | LEMD3 | c.1696-43A= (n.1696-43A=) c.1693-43A= (n.1693-43A=) | |
| 12 | g.65238459A>C | CA2559748211 | LEMD3 | c.1696-43A>C (n.1696-43A>C) c.1693-43A>C (n.1693-43A>C) | gnomAD v4 |
| 12 | g.65238459A>G | CA2575215360 | LEMD3 | c.1696-43A>G (n.1696-43A>G) c.1693-43A>G (n.1693-43A>G) | gnomAD v4 |
| 12 | g.65238459A>T | CA6671012 | LEMD3 | c.1696-43A>T (n.1696-43A>T) c.1693-43A>T (n.1693-43A>T) | dbSNP ExAC |
| 12 | g.65238460T>A | CA2619669415 | LEMD3 | c.1696-42T>A (n.1696-42T>A) c.1693-42T>A (n.1693-42T>A) | gnomAD v4 |
| 12 | g.65238460T>G | CA2619669416 | LEMD3 | c.1696-42T>G (n.1696-42T>G) c.1693-42T>G (n.1693-42T>G) | gnomAD v4 |
| 12 | g.65238461G>T | CA2619669417 | LEMD3 | c.1696-41G>T (n.1696-41G>T) c.1693-41G>T (n.1693-41G>T) | gnomAD v4 |
| 12 | g.65238463A>G | CA2619669418 | LEMD3 | c.1696-39A>G (n.1696-39A>G) c.1693-39A>G (n.1693-39A>G) | gnomAD v4 |
| 12 | g.65238463A>T | CA2575215361 | LEMD3 | c.1696-39A>T (n.1696-39A>T) c.1693-39A>T (n.1693-39A>T) | gnomAD v4 |
| 12 | g.65238464G>T | CA2619669419 | LEMD3 | c.1696-38G>T (n.1696-38G>T) c.1693-38G>T (n.1693-38G>T) | gnomAD v4 |
| 12 | g.65238465A= | CA2042444136 | LEMD3 | c.1696-37A= (n.1696-37A=) c.1693-37A= (n.1693-37A=) | |
| 12 | g.65238465A>G | CA2042444137 | LEMD3 | c.1696-37A>G (n.1696-37A>G) c.1693-37A>G (n.1693-37A>G) | dbSNP |
| 12 | g.65238465A>T | CA2619669420 | LEMD3 | c.1696-37A>T (n.1696-37A>T) c.1693-37A>T (n.1693-37A>T) | gnomAD v4 |
| 12 | g.65238466T>A | CA2619669422 | LEMD3 | c.1696-36T>A (n.1696-36T>A) c.1693-36T>A (n.1693-36T>A) | gnomAD v4 |
| 12 | g.65238466T>C | CA2619669421 | LEMD3 | c.1696-36T>C (n.1696-36T>C) c.1693-36T>C (n.1693-36T>C) | gnomAD v4 |
| 12 | g.65238467T>G | CA2619669423 | LEMD3 | c.1696-35T>G (n.1696-35T>G) c.1693-35T>G (n.1693-35T>G) | gnomAD v4 |
| 12 | g.65238467_65238470delinsTAAG | CA2042444139 | LEMD3 | c.1696-35_1696-32delinsTAAG (n.1696-35_1696-32delinsTAAG) c.1693-35_1693-32delinsTAAG (n.1693-35_1693-32delinsTAAG) | |
| 12 | g.65238468A= | CA2042444141 | LEMD3 | c.1696-34A= (n.1696-34A=) c.1693-34A= (n.1693-34A=) | |
| 12 | g.65238468A>G | CA238915054 | LEMD3 | c.1696-34A>G (n.1696-34A>G) c.1693-34A>G (n.1693-34A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.65238468A>T | CA2619669424 | LEMD3 | c.1696-34A>T (n.1696-34A>T) c.1693-34A>T (n.1693-34A>T) | gnomAD v4 |
| 12 | g.65238470_65238472del | CA6671013 | LEMD3 | c.1696-32_1696-30del (n.1696-32_1696-30del) c.1693-32_1693-30del (n.1693-32_1693-30del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65238470G>A | CA691027743 | LEMD3 | c.1696-32G>A (n.1696-32G>A) c.1693-32G>A (n.1693-32G>A) | dbSNP |
| 12 | g.65238470G= | CA2042444143 | LEMD3 | c.1696-32G= (n.1696-32G=) c.1693-32G= (n.1693-32G=) | |
| 12 | g.65238470G>T | CA2619669425 | LEMD3 | c.1696-32G>T (n.1696-32G>T) c.1693-32G>T (n.1693-32G>T) | gnomAD v4 |
| 12 | g.65238471A>C | CA2619669426 | LEMD3 | c.1696-31A>C (n.1696-31A>C) c.1693-31A>C (n.1693-31A>C) | gnomAD v4 |
| 12 | g.65238472A= | CA2042444146 | LEMD3 | c.1696-30A= (n.1696-30A=) c.1693-30A= (n.1693-30A=) | |
| 12 | g.65238472A>G | CA2042444147 | LEMD3 | c.1696-30A>G (n.1696-30A>G) c.1693-30A>G (n.1693-30A>G) | dbSNP |
| 12 | g.65238473T>A | CA2042444151 | LEMD3 | c.1696-29T>A (n.1696-29T>A) c.1693-29T>A (n.1693-29T>A) | dbSNP gnomAD v4 |
| 12 | g.65238473T>C | CA6671014 | LEMD3 | c.1696-29T>C (n.1696-29T>C) c.1693-29T>C (n.1693-29T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65238473T= | CA2042444150 | LEMD3 | c.1696-29T= (n.1696-29T=) c.1693-29T= (n.1693-29T=) | |
| 12 | g.65238475G>A | CA6671016 | LEMD3 | c.1696-27G>A (n.1696-27G>A) c.1693-27G>A (n.1693-27G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65238475G>C | CA2575215362 | LEMD3 | c.1696-27G>C (n.1696-27G>C) c.1693-27G>C (n.1693-27G>C) | |
| 12 | g.65238475G= | CA2042444153 | LEMD3 | c.1696-27G= (n.1696-27G=) c.1693-27G= (n.1693-27G=) | |
| 12 | g.65238475G>T | CA2619669427 | LEMD3 | c.1696-27G>T (n.1696-27G>T) c.1693-27G>T (n.1693-27G>T) | gnomAD v4 |
| 12 | g.65238476T>G | CA2042444160 | LEMD3 | c.1696-26T>G (n.1696-26T>G) c.1693-26T>G (n.1693-26T>G) | dbSNP |
| 12 | g.65238476T= | CA2042444158 | LEMD3 | c.1696-26T= (n.1696-26T=) c.1693-26T= (n.1693-26T=) | |
| 12 | g.65238476_65238486delinsTTATTTTTCTC | CA2042444156 | LEMD3 | c.1696-26_1696-16delinsTTATTTTTCTC (n.1696-26_1696-16delinsTTATTTTTCTC) c.1693-26_1693-16delinsTTATTTTTCTC (n.1693-26_1693-16delinsTTATTTTTCTC) | |
| 12 | g.65238478_65238538dup | CA6671015 | LEMD3 | c.1696-24_1732dup c.1693-24_1729dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238486_65238495del | CA605709996 | LEMD3 | c.1696-16_1696-7del (n.1696-16_1696-7del) c.1693-16_1693-7del (n.1693-16_1693-7del) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65238478A>G | CA2575215363 | LEMD3 | c.1696-24A>G (n.1696-24A>G) c.1693-24A>G (n.1693-24A>G) | |
| 12 | g.65238479T>C | CA605709997 | LEMD3 | c.1696-23T>C (n.1696-23T>C) c.1693-23T>C (n.1693-23T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238479T= | CA2042444162 | LEMD3 | c.1696-23T= (n.1696-23T=) c.1693-23T= (n.1693-23T=) | |
| 12 | g.65238481T>A | CA691027760 | LEMD3 | c.1696-21T>A (n.1696-21T>A) c.1693-21T>A (n.1693-21T>A) | dbSNP |
| 12 | g.65238481T= | CA2042444164 | LEMD3 | c.1696-21T= (n.1696-21T=) c.1693-21T= (n.1693-21T=) | |
| 12 | g.65238483T>C | CA2619669428 | LEMD3 | c.1696-19T>C (n.1696-19T>C) c.1693-19T>C (n.1693-19T>C) | gnomAD v4 |
| 12 | g.65238484C>A | CA2509441623 | LEMD3 | c.1696-18C>A (n.1696-18C>A) c.1693-18C>A (n.1693-18C>A) | gnomAD v4 |
| 12 | g.65238484C>G | CA2619669429 | LEMD3 | c.1696-18C>G (n.1696-18C>G) c.1693-18C>G (n.1693-18C>G) | gnomAD v4 |
| 12 | g.65238486C>A | CA2572139520 | LEMD3 | c.1696-16C>A (n.1696-16C>A) c.1693-16C>A (n.1693-16C>A) | gnomAD v4 |
| 12 | g.65238486C= | CA2042444166 | LEMD3 | c.1696-16C= (n.1696-16C=) c.1693-16C= (n.1693-16C=) | |
| 12 | g.65238486C>G | CA238915055 | LEMD3 | c.1696-16C>G (n.1696-16C>G) c.1693-16C>G (n.1693-16C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238486C>T | CA6671017 | LEMD3 | c.1696-16C>T (n.1696-16C>T) c.1693-16C>T (n.1693-16C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65238488A= | CA2042444168 | LEMD3 | c.1696-14A= (n.1696-14A=) c.1693-14A= (n.1693-14A=) | |
| 12 | g.65238488A>C | CA6671018 | LEMD3 | c.1696-14A>C (n.1696-14A>C) c.1693-14A>C (n.1693-14A>C) | dbSNP ExAC gnomAD v2 |
| 12 | g.65238488A>G | CA238915056 | LEMD3 | c.1696-14A>G (n.1696-14A>G) c.1693-14A>G (n.1693-14A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65238493T>G | CA2619669430 | LEMD3 | c.1696-9T>G (n.1696-9T>G) c.1693-9T>G (n.1693-9T>G) | gnomAD v4 |
| 12 | g.65238494C>A | CA2514219968 | LEMD3 | c.1696-8C>A (n.1696-8C>A) c.1693-8C>A (n.1693-8C>A) | gnomAD v4 |
| 12 | g.65238494C>T | CA2619669431 | LEMD3 | c.1696-8C>T (n.1696-8C>T) c.1693-8C>T (n.1693-8C>T) | gnomAD v4 |
| 12 | g.65238495T>A | CA2619669432 | LEMD3 | c.1696-7T>A (n.1696-7T>A) c.1693-7T>A (n.1693-7T>A) | gnomAD v4 |
| 12 | g.65238497G>A | CA6671019 | LEMD3 | c.1696-5G>A (n.1696-5G>A) c.1693-5G>A (n.1693-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65238497G= | CA2042444171 | LEMD3 | c.1696-5G= (n.1696-5G=) c.1693-5G= (n.1693-5G=) | |
| 12 | g.65238498T>A | CA2619669433 | LEMD3 | c.1696-4T>A (n.1696-4T>A) c.1693-4T>A (n.1693-4T>A) | gnomAD v4 |
| 12 | g.65238499del | CA2575215364 | LEMD3 | c.1696-3del (n.1696-3del) c.1693-3del (n.1693-3del) | gnomAD v4 |
| 12 | g.65238500A= | CA2042444175 | LEMD3 | c.1696-2A= (n.1696-2A=) c.1693-2A= (n.1693-2A=) | |
| 12 | g.65238500A>C | CA385670858 | LEMD3 | c.1696-2A>C (n.1696-2A>C) c.1693-2A>C (n.1693-2A>C) | |
| 12 | g.65238500A>G | CA385670859 | LEMD3 | c.1696-2A>G (n.1696-2A>G) c.1693-2A>G (n.1693-2A>G) | |
| 12 | g.65238500A>T | CA385670860 | LEMD3 | c.1696-2A>T (n.1696-2A>T) c.1693-2A>T (n.1693-2A>T) | dbSNP |
| 12 | g.65238501G>A | CA385670861 | LEMD3 | c.1696-1G>A (n.1696-1G>A) c.1693-1G>A (n.1693-1G>A) | |
| 12 | g.65238501G>C | CA385670862 | LEMD3 | c.1696-1G>C (n.1696-1G>C) c.1693-1G>C (n.1693-1G>C) | dbSNP |
| 12 | g.65238501G= | CA2042444178 | LEMD3 | c.1696-1G= (n.1696-1G=) c.1693-1G= (n.1693-1G=) | |
| 12 | g.65238501G>T | CA385670863 | LEMD3 | c.1696-1G>T (n.1696-1G>T) c.1693-1G>T (n.1693-1G>T) | gnomAD v4 |
| 12 | g.65238502G>A | CA385670864 | LEMD3 | c.1696G>A (p.Asp566Asn) c.1693G>A (p.Asp565Asn) | |
| 12 | g.65238502G>C | CA385670865 | LEMD3 | c.1696G>C (p.Asp566His) c.1693G>C (p.Asp565His) | |
| 12 | g.65238502G>T | CA385670866 | LEMD3 | c.1696G>T (p.Asp566Tyr) c.1693G>T (p.Asp565Tyr) | gnomAD v4 |
| 12 | g.65238503A>C | CA385670867 | LEMD3 | c.1697A>C (p.Asp566Ala) c.1694A>C (p.Asp565Ala) | |
| 12 | g.65238503A>G | CA385670868 | LEMD3 | c.1697A>G (p.Asp566Gly) c.1694A>G (p.Asp565Gly) | gnomAD v4 |
| 12 | g.65238503A>T | CA385670869 | LEMD3 | c.1697A>T (p.Asp566Val) c.1694A>T (p.Asp565Val) | |
| 12 | g.65238503_65238504delinsAT | CA2042444182 | LEMD3 | c.1697_1698delinsAT (p.Asp566=) c.1694_1695delinsAT (p.Asp565=) | |
| 12 | g.65238504T>A | CA385670870 | LEMD3 | c.1698T>A (p.Asp566Glu) c.1695T>A (p.Asp565Glu) | |
| 12 | g.65238504T>C | CA480666062 | LEMD3 | c.1698T>C (p.Asp566=) c.1695T>C (p.Asp565=) | |
| 12 | g.65238504T>G | CA385670871 | LEMD3 | c.1698T>G (p.Asp566Glu) c.1695T>G (p.Asp565Glu) | |
| 12 | g.65238506del | CA1139662773 | LEMD3 | c.1700del (p.Leu567Ter) c.1697del (p.Leu566Ter) | ClinVar dbSNP |
| 12 | g.65238505T>A | CA385670872 | LEMD3 | c.1699T>A (p.Leu567Ile) c.1696T>A (p.Leu566Ile) | |
| 12 | g.65238505T>C | CA480666063 | LEMD3 | c.1699T>C (p.Leu567=) c.1696T>C (p.Leu566=) | |
| 12 | g.65238505T>G | CA385670873 | LEMD3 | c.1699T>G (p.Leu567Val) c.1696T>G (p.Leu566Val) | |
| 12 | g.65238506T>A | CA385670874 | LEMD3 | c.1700T>A (p.Leu567Ter) c.1697T>A (p.Leu566Ter) | |
| 12 | g.65238506T>C | CA385670875 | LEMD3 | c.1700T>C (p.Leu567Ser) c.1697T>C (p.Leu566Ser) | |
| 12 | g.65238506T>G | CA385670876 | LEMD3 | c.1700T>G (p.Leu567Ter) c.1697T>G (p.Leu566Ter) | |
| 12 | g.65238507A= | CA2042444190 | LEMD3 | c.1701A= (p.Leu567=) c.1698A= (p.Leu566=) | |
| 12 | g.65238507A>C | CA385670877 | LEMD3 | c.1701A>C (p.Leu567Phe) c.1698A>C (p.Leu566Phe) | |
| 12 | g.65238507A>G | CA480666064 | LEMD3 | c.1701A>G (p.Leu567=) c.1698A>G (p.Leu566=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65238507A>T | CA385670878 | LEMD3 | c.1701A>T (p.Leu567Phe) c.1698A>T (p.Leu566Phe) | gnomAD v4 |
| 12 | g.65238508G>A | CA385670879 | LEMD3 | c.1702G>A (p.Gly568Ser) c.1699G>A (p.Gly567Ser) | gnomAD v4 |
| 12 | g.65238508G>C | CA385670880 | LEMD3 | c.1702G>C (p.Gly568Arg) c.1699G>C (p.Gly567Arg) | |
| 12 | g.65238508G>T | CA385670881 | LEMD3 | c.1702G>T (p.Gly568Cys) c.1699G>T (p.Gly567Cys) | |
| 12 | g.65238509G>A | CA385670882 | LEMD3 | c.1703G>A (p.Gly568Asp) c.1700G>A (p.Gly567Asp) | |
| 12 | g.65238509G>C | CA385670883 | LEMD3 | c.1703G>C (p.Gly568Ala) c.1700G>C (p.Gly567Ala) | ClinVar |
| 12 | g.65238509G>T | CA385670884 | LEMD3 | c.1703G>T (p.Gly568Val) c.1700G>T (p.Gly567Val) | gnomAD v4 |
| 12 | g.65238510T>A | CA480666065 | LEMD3 | c.1704T>A (p.Gly568=) c.1701T>A (p.Gly567=) | |
| 12 | g.65238510T>C | CA238915057 | LEMD3 | c.1704T>C (p.Gly568=) c.1701T>C (p.Gly567=) | dbSNP |
| 12 | g.65238510T>G | CA480666066 | LEMD3 | c.1704T>G (p.Gly568=) c.1701T>G (p.Gly567=) | |
| 12 | g.65238510T= | CA2042444193 | LEMD3 | c.1704T= (p.Gly568=) c.1701T= (p.Gly567=) | |
| 12 | g.65238511C>A | CA385670886 | LEMD3 | c.1705C>A (p.Pro569Thr) c.1702C>A (p.Pro568Thr) | gnomAD v4 |
| 12 | g.65238511C= | CA2042444204 | LEMD3 | c.1705C= (p.Pro569=) c.1702C= (p.Pro568=) | |
| 12 | g.65238511C>G | CA385670885 | LEMD3 | c.1705C>G (p.Pro569Ala) c.1702C>G (p.Pro568Ala) | |
| 12 | g.65238511C>T | CA6671020 | LEMD3 | c.1705C>T (p.Pro569Ser) c.1702C>T (p.Pro568Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238512C>A | CA385670887 | LEMD3 | c.1706C>A (p.Pro569His) c.1703C>A (p.Pro568His) | gnomAD v4 COSMIC |
| 12 | g.65238512C= | CA2042444211 | LEMD3 | c.1706C= (p.Pro569=) c.1703C= (p.Pro568=) | |
| 12 | g.65238512C>G | CA385670889 | LEMD3 | c.1706C>G (p.Pro569Arg) c.1703C>G (p.Pro568Arg) | |
| 12 | g.65238512C>T | CA385670888 | LEMD3 | c.1706C>T (p.Pro569Leu) c.1703C>T (p.Pro568Leu) | dbSNP |
| 12 | g.65238513T>A | CA480666069 | LEMD3 | c.1707T>A (p.Pro569=) c.1704T>A (p.Pro568=) | |
| 12 | g.65238513T>C | CA480666067 | LEMD3 | c.1707T>C (p.Pro569=) c.1704T>C (p.Pro568=) | gnomAD v4 |
| 12 | g.65238513T>G | CA480666068 | LEMD3 | c.1707T>G (p.Pro569=) c.1704T>G (p.Pro568=) | |
| 12 | g.65238514G>A | CA385670890 | LEMD3 | c.1708G>A (p.Glu570Lys) c.1705G>A (p.Glu569Lys) | |
| 12 | g.65238514G>C | CA385670891 | LEMD3 | c.1708G>C (p.Glu570Gln) c.1705G>C (p.Glu569Gln) | |
| 12 | g.65238514G>T | CA385670892 | LEMD3 | c.1708G>T (p.Glu570Ter) c.1705G>T (p.Glu569Ter) | gnomAD v4 |
| 12 | g.65238515A>C | CA385670893 | LEMD3 | c.1709A>C (p.Glu570Ala) c.1706A>C (p.Glu569Ala) | |
| 12 | g.65238515A>G | CA385670894 | LEMD3 | c.1709A>G (p.Glu570Gly) c.1706A>G (p.Glu569Gly) | |
| 12 | g.65238515A>T | CA385670895 | LEMD3 | c.1709A>T (p.Glu570Val) c.1706A>T (p.Glu569Val) | |
| 12 | g.65238516A>C | CA385670896 | LEMD3 | c.1710A>C (p.Glu570Asp) c.1707A>C (p.Glu569Asp) | |
| 12 | g.65238516A>G | CA480666070 | LEMD3 | c.1710A>G (p.Glu570=) c.1707A>G (p.Glu569=) | gnomAD v4 |
| 12 | g.65238516A>T | CA385670897 | LEMD3 | c.1710A>T (p.Glu570Asp) c.1707A>T (p.Glu569Asp) | |
| 12 | g.65238517T>A | CA385670898 | LEMD3 | c.1711T>A (p.Tyr571Asn) c.1708T>A (p.Tyr570Asn) | |
| 12 | g.65238517T>C | CA385670899 | LEMD3 | c.1711T>C (p.Tyr571His) c.1708T>C (p.Tyr570His) | gnomAD v4 |
| 12 | g.65238517T>G | CA385670900 | LEMD3 | c.1711T>G (p.Tyr571Asp) c.1708T>G (p.Tyr570Asp) | |
| 12 | g.65238518A>C | CA385670903 | LEMD3 | c.1712A>C (p.Tyr571Ser) c.1709A>C (p.Tyr570Ser) | |
| 12 | g.65238518A>G | CA385670901 | LEMD3 | c.1712A>G (p.Tyr571Cys) c.1709A>G (p.Tyr570Cys) | |
| 12 | g.65238518A>T | CA385670902 | LEMD3 | c.1712A>T (p.Tyr571Phe) c.1709A>T (p.Tyr570Phe) | |
| 12 | g.65238519T>A | CA385670904 | LEMD3 | c.1713T>A (p.Tyr571Ter) c.1710T>A (p.Tyr570Ter) | |
| 12 | g.65238519T>C | CA480666071 | LEMD3 | c.1713T>C (p.Tyr571=) c.1710T>C (p.Tyr570=) | |
| 12 | g.65238519T>G | CA385670905 | LEMD3 | c.1713T>G (p.Tyr571Ter) c.1710T>G (p.Tyr570Ter) | |
| 12 | g.65238520G>A | CA385670906 | LEMD3 | c.1714G>A (p.Glu572Lys) c.1711G>A (p.Glu571Lys) | |
| 12 | g.65238520G>C | CA385670907 | LEMD3 | c.1714G>C (p.Glu572Gln) c.1711G>C (p.Glu571Gln) | |
| 12 | g.65238520G>T | CA385670908 | LEMD3 | c.1714G>T (p.Glu572Ter) c.1711G>T (p.Glu571Ter) | gnomAD v4 |
| 12 | g.65238521A>C | CA385670909 | LEMD3 | c.1715A>C (p.Glu572Ala) c.1712A>C (p.Glu571Ala) | |
| 12 | g.65238521A>G | CA385670910 | LEMD3 | c.1715A>G (p.Glu572Gly) c.1712A>G (p.Glu571Gly) | |
| 12 | g.65238521A>T | CA385670911 | LEMD3 | c.1715A>T (p.Glu572Val) c.1712A>T (p.Glu571Val) | |
| 12 | g.65238522A>C | CA385670912 | LEMD3 | c.1716A>C (p.Glu572Asp) c.1713A>C (p.Glu571Asp) | |
| 12 | g.65238522A>G | CA480666072 | LEMD3 | c.1716A>G (p.Glu572=) c.1713A>G (p.Glu571=) | |
| 12 | g.65238522A>T | CA385670913 | LEMD3 | c.1716A>T (p.Glu572Asp) c.1713A>T (p.Glu571Asp) | |
| 12 | g.65238523G>A | CA385670915 | LEMD3 | c.1717G>A (p.Gly573Ser) c.1714G>A (p.Gly572Ser) | |
| 12 | g.65238523G>C | CA385670916 | LEMD3 | c.1717G>C (p.Gly573Arg) c.1714G>C (p.Gly572Arg) | |
| 12 | g.65238523G>T | CA385670914 | LEMD3 | c.1717G>T (p.Gly573Cys) c.1714G>T (p.Gly572Cys) | |
| 12 | g.65238524G>A | CA238915058 | LEMD3 | c.1718G>A (p.Gly573Asp) c.1715G>A (p.Gly572Asp) | dbSNP gnomAD v4 |
| 12 | g.65238524G>C | CA385670917 | LEMD3 | c.1718G>C (p.Gly573Ala) c.1715G>C (p.Gly572Ala) | |
| 12 | g.65238524G= | CA2042444215 | LEMD3 | c.1718G= (p.Gly573=) c.1715G= (p.Gly572=) | |
| 12 | g.65238524G>T | CA385670918 | LEMD3 | c.1718G>T (p.Gly573Val) c.1715G>T (p.Gly572Val) | |
| 12 | g.65238525T>A | CA480666073 | LEMD3 | c.1719T>A (p.Gly573=) c.1716T>A (p.Gly572=) | |
| 12 | g.65238525T>C | CA480666074 | LEMD3 | c.1719T>C (p.Gly573=) c.1716T>C (p.Gly572=) | |
| 12 | g.65238525T>G | CA480666075 | LEMD3 | c.1719T>G (p.Gly573=) c.1716T>G (p.Gly572=) | |
| 12 | g.65238526A= | CA2042444220 | LEMD3 | c.1720A= (p.Ile574=) c.1717A= (p.Ile573=) | |
| 12 | g.65238526A>C | CA385670919 | LEMD3 | c.1720A>C (p.Ile574Leu) c.1717A>C (p.Ile573Leu) | |
| 12 | g.65238526A>G | CA6671021 | LEMD3 | c.1720A>G (p.Ile574Val) c.1717A>G (p.Ile573Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238526A>T | CA385670920 | LEMD3 | c.1720A>T (p.Ile574Leu) c.1717A>T (p.Ile573Leu) | |
| 12 | g.65238527T>A | CA385670921 | LEMD3 | c.1721T>A (p.Ile574Lys) c.1718T>A (p.Ile573Lys) | |
| 12 | g.65238527T>C | CA385670922 | LEMD3 | c.1721T>C (p.Ile574Thr) c.1718T>C (p.Ile573Thr) | gnomAD v4 |
| 12 | g.65238527T>G | CA385670923 | LEMD3 | c.1721T>G (p.Ile574Arg) c.1718T>G (p.Ile573Arg) | |
| 12 | g.65238528A= | CA2042444229 | LEMD3 | c.1722A= (p.Ile574=) c.1719A= (p.Ile573=) | |
| 12 | g.65238528A>C | CA480666076 | LEMD3 | c.1722A>C (p.Ile574=) c.1719A>C (p.Ile573=) | |
| 12 | g.65238528A>G | CA6671022 | LEMD3 | c.1722A>G (p.Ile574Met) c.1719A>G (p.Ile573Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238528A>T | CA480666077 | LEMD3 | c.1722A>T (p.Ile574=) c.1719A>T (p.Ile573=) | |
| 12 | g.65238529T>A | CA385670924 | LEMD3 | c.1723T>A (p.Phe575Ile) c.1720T>A (p.Phe574Ile) | |
| 12 | g.65238529T>C | CA385670925 | LEMD3 | c.1723T>C (p.Phe575Leu) c.1720T>C (p.Phe574Leu) | |
| 12 | g.65238529T>G | CA385670926 | LEMD3 | c.1723T>G (p.Phe575Val) c.1720T>G (p.Phe574Val) | |
| 12 | g.65238530T>A | CA385670929 | LEMD3 | c.1724T>A (p.Phe575Tyr) c.1721T>A (p.Phe574Tyr) | |
| 12 | g.65238530T>C | CA385670928 | LEMD3 | c.1724T>C (p.Phe575Ser) c.1721T>C (p.Phe574Ser) | |
| 12 | g.65238530T>G | CA385670927 | LEMD3 | c.1724T>G (p.Phe575Cys) c.1721T>G (p.Phe574Cys) | |
| 12 | g.65238531T>A | CA385670930 | LEMD3 | c.1725T>A (p.Phe575Leu) c.1722T>A (p.Phe574Leu) | |
| 12 | g.65238531T>C | CA480666078 | LEMD3 | c.1725T>C (p.Phe575=) c.1722T>C (p.Phe574=) | |
| 12 | g.65238531T>G | CA385670931 | LEMD3 | c.1725T>G (p.Phe575Leu) c.1722T>G (p.Phe574Leu) | |
| 12 | g.65238532A>C | CA385670932 | LEMD3 | c.1726A>C (p.Asn576His) c.1723A>C (p.Asn575His) | |
| 12 | g.65238532A>G | CA385670933 | LEMD3 | c.1726A>G (p.Asn576Asp) c.1723A>G (p.Asn575Asp) | gnomAD v4 |
| 12 | g.65238532A>T | CA385670934 | LEMD3 | c.1726A>T (p.Asn576Tyr) c.1723A>T (p.Asn575Tyr) | |
| 12 | g.65238533A>C | CA385670935 | LEMD3 | c.1727A>C (p.Asn576Thr) c.1724A>C (p.Asn575Thr) | |
| 12 | g.65238533A>G | CA385670936 | LEMD3 | c.1727A>G (p.Asn576Ser) c.1724A>G (p.Asn575Ser) | |
| 12 | g.65238533A>T | CA385670937 | LEMD3 | c.1727A>T (p.Asn576Ile) c.1724A>T (p.Asn575Ile) | |
| 12 | g.65238534C>A | CA6671023 | LEMD3 | c.1728C>A (p.Asn576Lys) c.1725C>A (p.Asn575Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238534C= | CA2042444234 | LEMD3 | c.1728C= (p.Asn576=) c.1725C= (p.Asn575=) | |
| 12 | g.65238534C>G | CA385670938 | LEMD3 | c.1728C>G (p.Asn576Lys) c.1725C>G (p.Asn575Lys) | |
| 12 | g.65238534C>T | CA480666079 | LEMD3 | c.1728C>T (p.Asn576=) c.1725C>T (p.Asn575=) | |
| 12 | g.65238535A= | CA2042444239 | LEMD3 | c.1729A= (p.Thr577=) c.1726A= (p.Thr576=) | |
| 12 | g.65238535A>C | CA385670939 | LEMD3 | c.1729A>C (p.Thr577Pro) c.1726A>C (p.Thr576Pro) | |
| 12 | g.65238535A>G | CA385670940 | LEMD3 | c.1729A>G (p.Thr577Ala) c.1726A>G (p.Thr576Ala) | ClinVar dbSNP gnomAD v4 |
| 12 | g.65238535A>T | CA6671024 | LEMD3 | c.1729A>T (p.Thr577Ser) c.1726A>T (p.Thr576Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65238536C>A | CA385670942 | LEMD3 | c.1730C>A (p.Thr577Asn) c.1727C>A (p.Thr576Asn) | |
| 12 | g.65238536C>G | CA385670943 | LEMD3 | c.1730C>G (p.Thr577Ser) c.1727C>G (p.Thr576Ser) | |
| 12 | g.65238536C>T | CA385670941 | LEMD3 | c.1730C>T (p.Thr577Ile) c.1727C>T (p.Thr576Ile) | |
| 12 | g.65238537T>A | CA480666080 | LEMD3 | c.1731T>A (p.Thr577=) c.1728T>A (p.Thr576=) | |
| 12 | g.65238537T>C | CA480666081 | LEMD3 | c.1731T>C (p.Thr577=) c.1728T>C (p.Thr576=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.65238537T>G | CA480666082 | LEMD3 | c.1731T>G (p.Thr577=) c.1728T>G (p.Thr576=) | |
| 12 | g.65238537T= | CA2042444243 | LEMD3 | c.1731T= (p.Thr577=) c.1728T= (p.Thr576=) | |
| 12 | g.65238538_65238539insATTTTT | CA2619669434 | LEMD3 | c.1732_1733insATTTTT (p.Thr577_Ser578insTyrPhe) c.1729_1730insATTTTT (p.Thr576_Ser577insTyrPhe) | gnomAD v4 |
| 12 | g.65238538T>A | CA385670944 | LEMD3 | c.1732T>A (p.Ser578Thr) c.1729T>A (p.Ser577Thr) | |
| 12 | g.65238538T>C | CA385670945 | LEMD3 | c.1732T>C (p.Ser578Pro) c.1729T>C (p.Ser577Pro) | |
| 12 | g.65238538T>G | CA6671025 | LEMD3 | c.1732T>G (p.Ser578Ala) c.1729T>G (p.Ser577Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65238538T= | CA2042444246 | LEMD3 | c.1732T= (p.Ser578=) c.1729T= (p.Ser577=) | |
| 12 | g.65238538_65238539insATTTTTCTCTATTTTTCTTGTTAGGATTTAGGT | CA2619669435 | LEMD3 | c.1732_1733insATTTTTCTCTATTTTTCTTGTTAGGATTTAGGT (p.Thr577_Ser578insTyrPheSerLeuPhePheLeuLeuGlyPheArg) c.1729_1730insATTTTTCTCTATTTTTCTTGTTAGGATTTAGGT (p.Thr576_Ser577insTyrPheSerLeuPhePheLeuLeuGlyPheArg) | gnomAD v4 |
| 12 | g.65238539C>A | CA385670946 | LEMD3 | c.1733C>A (p.Ser578Ter) c.1730C>A (p.Ser577Ter) | gnomAD v4 |
| 12 | g.65238539C= | CA2042444255 | LEMD3 | c.1733C= (p.Ser578=) c.1730C= (p.Ser577=) | |
| 12 | g.65238539C>G | CA385670947 | LEMD3 | c.1733C>G (p.Ser578Ter) c.1730C>G (p.Ser577Ter) | |
| 12 | g.65238539C>T | CA385670948 | LEMD3 | c.1733C>T (p.Ser578Leu) c.1730C>T (p.Ser577Leu) | dbSNP |
| 12 | g.65238539_65238540insTCTATTTTTCTTGTTAGGATTTAGGTCCTGA | CA2619669436 | LEMD3 | c.1733_1734insTCTATTTTTCTTGTTAGGATTTAGGTCCTGA (p.Gln580PhefsTer9) c.1730_1731insTCTATTTTTCTTGTTAGGATTTAGGTCCTGA (p.Gln579PhefsTer9) | gnomAD v4 |
| 12 | g.65238540A= | CA2042444259 | LEMD3 | c.1734A= (p.Ser578=) c.1731A= (p.Ser577=) | |
| 12 | g.65238540A>C | CA480666083 | LEMD3 | c.1734A>C (p.Ser578=) c.1731A>C (p.Ser577=) | dbSNP gnomAD v4 |
| 12 | g.65238540A>G | CA480666085 | LEMD3 | c.1734A>G (p.Ser578=) c.1731A>G (p.Ser577=) | |
| 12 | g.65238540A>T | CA480666084 | LEMD3 | c.1734A>T (p.Ser578=) c.1731A>T (p.Ser577=) | |
| 12 | g.65238541T>A | CA385670950 | LEMD3 | c.1735T>A (p.Leu579Met) c.1732T>A (p.Leu578Met) | |
| 12 | g.65238541T>C | CA6671026 | LEMD3 | c.1735T>C (p.Leu579=) c.1732T>C (p.Leu578=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65238541T>G | CA385670949 | LEMD3 | c.1735T>G (p.Leu579Val) c.1732T>G (p.Leu578Val) | |
| 12 | g.65238541T= | CA2042444263 | LEMD3 | c.1735T= (p.Leu579=) c.1732T= (p.Leu578=) | |
| 12 | g.65238542T>A | CA385670951 | LEMD3 | c.1736T>A (p.Leu579Ter) c.1733T>A (p.Leu578Ter) | |
| 12 | g.65238542T>C | CA385670952 | LEMD3 | c.1736T>C (p.Leu579Ser) c.1733T>C (p.Leu578Ser) | |
| 12 | g.65238542T>G | CA385670953 | LEMD3 | c.1736T>G (p.Leu579Trp) c.1733T>G (p.Leu578Trp) | |
| 12 | g.65238543G>A | CA480666086 | LEMD3 | c.1737G>A (p.Leu579=) c.1734G>A (p.Leu578=) | |
| 12 | g.65238543G>C | CA385670954 | LEMD3 | c.1737G>C (p.Leu579Phe) c.1734G>C (p.Leu578Phe) | |
| 12 | g.65238543G>T | CA385670955 | LEMD3 | c.1737G>T (p.Leu579Phe) c.1734G>T (p.Leu578Phe) | COSMIC |
| 12 | g.65238544C>A | CA385670958 | LEMD3 | c.1738C>A (p.Gln580Lys) c.1735C>A (p.Gln579Lys) | |
| 12 | g.65238544C>G | CA385670956 | LEMD3 | c.1738C>G (p.Gln580Glu) c.1735C>G (p.Gln579Glu) | |
| 12 | g.65238544C>T | CA385670957 | LEMD3 | c.1738C>T (p.Gln580Ter) c.1735C>T (p.Gln579Ter) | |
| 12 | g.65238545A>C | CA385670959 | LEMD3 | c.1739A>C (p.Gln580Pro) c.1736A>C (p.Gln579Pro) | |
| 12 | g.65238545A>G | CA385670960 | LEMD3 | c.1739A>G (p.Gln580Arg) c.1736A>G (p.Gln579Arg) | dbSNP |
| 12 | g.65238545A>T | CA385670961 | LEMD3 | c.1739A>T (p.Gln580Leu) c.1736A>T (p.Gln579Leu) | |
| 12 | g.65238546G>A | CA480666087 | LEMD3 | c.1740G>A (p.Gln580=) c.1737G>A (p.Gln579=) | |
| 12 | g.65238546G>C | CA385670962 | LEMD3 | c.1740G>C (p.Gln580His) c.1737G>C (p.Gln579His) | |
| 12 | g.65238546G>T | CA385670963 | LEMD3 | c.1740G>T (p.Gln580His) c.1737G>T (p.Gln579His) | |
| 12 | g.65238547T>A | CA385670966 | LEMD3 | c.1741T>A (p.Trp581Arg) c.1738T>A (p.Trp580Arg) | |
| 12 | g.65238547T>C | CA385670965 | LEMD3 | c.1741T>C (p.Trp581Arg) c.1738T>C (p.Trp580Arg) | |
| 12 | g.65238547T>G | CA385670964 | LEMD3 | c.1741T>G (p.Trp581Gly) c.1738T>G (p.Trp580Gly) |