Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.225488770T>G | CA2607291239 | ENAH | c.*9005A>C (n.*9005A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.225488775T>A | CA1224492803 | ENAH | c.*9000A>T (n.*9000A>T) | dbSNP |
1 | g.225488775T>C | CA2650717288 | ENAH | c.*9000A>G (n.*9000A>G) | gnomAD v4 |
1 | g.225488775T= | CA1224492802 | ENAH | c.*9000A= (n.*9000A=) | |
1 | g.225488776C>A | CA2650717289 | ENAH | c.*8999G>T (n.*8999G>T) | gnomAD v4 |
1 | g.225488776C>T | CA2529505460 | ENAH | c.*8999G>A (n.*8999G>A) | |
1 | g.225488777A>C | CA2747959134 | ENAH | c.*8998T>G (n.*8998T>G) | |
1 | g.225488779C>A | CA2650717290 | ENAH | c.*8996G>T (n.*8996G>T) | gnomAD v4 |
1 | g.225488780C>A | CA2650717291 | ENAH | c.*8995G>T (n.*8995G>T) | gnomAD v4 |
1 | g.225488780C>T | CA2650717292 | ENAH | c.*8995G>A (n.*8995G>A) | gnomAD v4 |
1 | g.225488781C>T | CA2650717293 | ENAH | c.*8994G>A (n.*8994G>A) | gnomAD v4 |
1 | g.225488781_225488782insT | CA2747959135 | ENAH | c.*8993_*8994insA (n.*8993_*8994insA) | |
1 | g.225488782A= | CA1224492804 | ENAH | c.*8993T= (n.*8993T=) | |
1 | g.225488782A>C | CA38523172 | ENAH | c.*8993T>G (n.*8993T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.225488785C>A | CA2698429271 | ENAH | c.*8990G>T (n.*8990G>T) | dbSNP |
1 | g.225488787G>A | CA2650717294 | ENAH | c.*8988C>T (n.*8988C>T) | gnomAD v4 |
1 | g.225488787G>T | CA2650717295 | ENAH | c.*8988C>A (n.*8988C>A) | gnomAD v4 |
1 | g.225488788C>T | CA2607291240 | ENAH | c.*8987G>A (n.*8987G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.225488790A= | CA1224492805 | ENAH | c.*8985T= (n.*8985T=) | |
1 | g.225488790A>C | CA2747959136 | ENAH | c.*8985T>G (n.*8985T>G) | |
1 | g.225488790A>G | CA2650717296 | ENAH | c.*8985T>C (n.*8985T>C) | gnomAD v4 |
1 | g.225488790A>T | CA732233388 | ENAH | c.*8985T>A (n.*8985T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.225488791T>C | CA529138971 | ENAH | c.*8984A>G (n.*8984A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.225488791T= | CA1224492806 | ENAH | c.*8984A= (n.*8984A=) | |
1 | g.225488793T>C | CA2650717297 | ENAH | c.*8982A>G (n.*8982A>G) | gnomAD v4 |
1 | g.225488794C= | CA1224492807 | ENAH | c.*8981G= (n.*8981G=) | |
1 | g.225488794C>T | CA1224492808 | ENAH | c.*8981G>A (n.*8981G>A) | dbSNP |
1 | g.225488795C>A | CA2650717298 | ENAH | c.*8980G>T (n.*8980G>T) | gnomAD v4 |
1 | g.225488795C= | CA1145924033 | ENAH | c.*8980G= (n.*8980G=) | |
1 | g.225488795C>T | CA38523182 | ENAH | c.*8980G>A (n.*8980G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.225488796A= | CA1224492809 | ENAH | c.*8979T= (n.*8979T=) | |
1 | g.225488796A>G | CA1224492810 | ENAH | c.*8979T>C (n.*8979T>C) | dbSNP |
1 | g.225488797T>A | CA38523187 | ENAH | c.*8978A>T (n.*8978A>T) | dbSNP |
1 | g.225488797T= | CA1224492811 | ENAH | c.*8978A= (n.*8978A=) | |
1 | g.225488799_225488803delinsTCTGA | CA1224492812 | ENAH | c.*8972_*8976delinsTCAGA (n.*8972_*8976delinsTCAGA) | |
1 | g.225488802_225488805del | CA38523188 | ENAH | c.*8972_*8975del (n.*8972_*8975del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.225488802G>A | CA2509328280 | ENAH | c.*8973C>T (n.*8973C>T) | |
1 | g.225488802G= | CA1224492813 | ENAH | c.*8973C= (n.*8973C=) | |
1 | g.225488802G>T | CA732233393 | ENAH | c.*8973C>A (n.*8973C>A) | dbSNP gnomAD v4 |
1 | g.225488804C>A | CA1224492815 | ENAH | c.*8971G>T (n.*8971G>T) | dbSNP |
1 | g.225488804C= | CA1224492814 | ENAH | c.*8971G= (n.*8971G=) | |
1 | g.225488804C>T | CA732233395 | ENAH | c.*8971G>A (n.*8971G>A) | dbSNP |
1 | g.225488805T>C | CA2747959137 | ENAH | c.*8970A>G (n.*8970A>G) | |
1 | g.225488808C>A | CA2650717299 | ENAH | c.*8967G>T (n.*8967G>T) | gnomAD v4 |
1 | g.225488808C= | CA1224492816 | ENAH | c.*8967G= (n.*8967G=) | |
1 | g.225488808C>G | CA1224492817 | ENAH | c.*8967G>C (n.*8967G>C) | dbSNP |
1 | g.225488811C>A | CA2650717300 | ENAH | c.*8964G>T (n.*8964G>T) | gnomAD v4 |
1 | g.225488811C>T | CA2650717301 | ENAH | c.*8964G>A (n.*8964G>A) | gnomAD v4 |
1 | g.225488812C>A | CA2650717302 | ENAH | c.*8963G>T (n.*8963G>T) | gnomAD v4 |
1 | g.225488813A>G | CA2650717303 | ENAH | c.*8962T>C (n.*8962T>C) | gnomAD v4 |