Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.7663304_7663317dup | CA916101769 | CAMTA1 | c.806-49_806-36dup (n.806-49_806-36dup) c.*657-49_*657-36dup (n.*657-49_*657-36dup) c.716-49_716-36dup (n.716-49_716-36dup) c.734-49_734-36dup (n.734-49_734-36dup) c.*575-49_*575-36dup (n.*575-49_*575-36dup) c.794-49_794-36dup (n.794-49_794-36dup) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663313C>T | CA2643031686 | CAMTA1 | c.806-40C>T (n.806-40C>T) c.*657-40C>T (n.*657-40C>T) c.716-40C>T (n.716-40C>T) c.734-40C>T (n.734-40C>T) c.*575-40C>T (n.*575-40C>T) c.794-40C>T (n.794-40C>T) | gnomAD v4 |
1 | g.7663314C= | CA1152023489 | CAMTA1 | c.806-39C= (n.806-39C=) c.*657-39C= (n.*657-39C=) c.716-39C= (n.716-39C=) c.734-39C= (n.734-39C=) c.*575-39C= (n.*575-39C=) c.794-39C= (n.794-39C=) | |
1 | g.7663314C>T | CA738928191 | CAMTA1 | c.806-39C>T (n.806-39C>T) c.*657-39C>T (n.*657-39C>T) c.716-39C>T (n.716-39C>T) c.734-39C>T (n.734-39C>T) c.*575-39C>T (n.*575-39C>T) c.794-39C>T (n.794-39C>T) | dbSNP |
1 | g.7663315T>C | CA566286 | CAMTA1 | c.806-38T>C (n.806-38T>C) c.*657-38T>C (n.*657-38T>C) c.716-38T>C (n.716-38T>C) c.734-38T>C (n.734-38T>C) c.*575-38T>C (n.*575-38T>C) c.794-38T>C (n.794-38T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663315T= | CA1143910235 | CAMTA1 | c.806-38T= (n.806-38T=) c.*657-38T= (n.*657-38T=) c.716-38T= (n.716-38T=) c.734-38T= (n.734-38T=) c.*575-38T= (n.*575-38T=) c.794-38T= (n.794-38T=) | |
1 | g.7663321_7663326del | CA2643031687 | CAMTA1 | c.806-32_806-27del (n.806-32_806-27del) c.*657-32_*657-27del (n.*657-32_*657-27del) c.716-32_716-27del (n.716-32_716-27del) c.734-32_734-27del (n.734-32_734-27del) c.*575-32_*575-27del (n.*575-32_*575-27del) c.794-32_794-27del (n.794-32_794-27del) | gnomAD v4 |
1 | g.7663317C= | CA1152023490 | CAMTA1 | c.806-36C= (n.806-36C=) c.*657-36C= (n.*657-36C=) c.716-36C= (n.716-36C=) c.734-36C= (n.734-36C=) c.*575-36C= (n.*575-36C=) c.794-36C= (n.794-36C=) | |
1 | g.7663317C>T | CA566287 | CAMTA1 | c.806-36C>T (n.806-36C>T) c.*657-36C>T (n.*657-36C>T) c.716-36C>T (n.716-36C>T) c.734-36C>T (n.734-36C>T) c.*575-36C>T (n.*575-36C>T) c.794-36C>T (n.794-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663318G>A | CA566288 | CAMTA1 | c.806-35G>A (n.806-35G>A) c.*657-35G>A (n.*657-35G>A) c.716-35G>A (n.716-35G>A) c.734-35G>A (n.734-35G>A) c.*575-35G>A (n.*575-35G>A) c.794-35G>A (n.794-35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663318G= | CA1143873661 | CAMTA1 | c.806-35G= (n.806-35G=) c.*657-35G= (n.*657-35G=) c.716-35G= (n.716-35G=) c.734-35G= (n.734-35G=) c.*575-35G= (n.*575-35G=) c.794-35G= (n.794-35G=) | |
1 | g.7663318G>T | CA566289 | CAMTA1 | c.806-35G>T (n.806-35G>T) c.*657-35G>T (n.*657-35G>T) c.716-35G>T (n.716-35G>T) c.734-35G>T (n.734-35G>T) c.*575-35G>T (n.*575-35G>T) c.794-35G>T (n.794-35G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663319T>C | CA17243701 | CAMTA1 | c.806-34T>C (n.806-34T>C) c.*657-34T>C (n.*657-34T>C) c.716-34T>C (n.716-34T>C) c.734-34T>C (n.734-34T>C) c.*575-34T>C (n.*575-34T>C) c.794-34T>C (n.794-34T>C) | dbSNP |
1 | g.7663319T= | CA1152023491 | CAMTA1 | c.806-34T= (n.806-34T=) c.*657-34T= (n.*657-34T=) c.716-34T= (n.716-34T=) c.734-34T= (n.734-34T=) c.*575-34T= (n.*575-34T=) c.794-34T= (n.794-34T=) | |
1 | g.7663323_7663332dup | CA566290 | CAMTA1 | c.806-30_806-21dup (n.806-30_806-21dup) c.*657-30_*657-21dup (n.*657-30_*657-21dup) c.716-30_716-21dup (n.716-30_716-21dup) c.734-30_734-21dup (n.734-30_734-21dup) c.*575-30_*575-21dup (n.*575-30_*575-21dup) c.794-30_794-21dup (n.794-30_794-21dup) | dbSNP ExAC gnomAD v2 |
1 | g.7663323_7663332del | CA2643031688 | CAMTA1 | c.806-30_806-21del (n.806-30_806-21del) c.*657-30_*657-21del (n.*657-30_*657-21del) c.716-30_716-21del (n.716-30_716-21del) c.734-30_734-21del (n.734-30_734-21del) c.*575-30_*575-21del (n.*575-30_*575-21del) c.794-30_794-21del (n.794-30_794-21del) | gnomAD v4 |
1 | g.7663321T>C | CA738928200 | CAMTA1 | c.806-32T>C (n.806-32T>C) c.*657-32T>C (n.*657-32T>C) c.716-32T>C (n.716-32T>C) c.734-32T>C (n.734-32T>C) c.*575-32T>C (n.*575-32T>C) c.794-32T>C (n.794-32T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663321T>G | CA2742356550 | CAMTA1 | c.806-32T>G (n.806-32T>G) c.*657-32T>G (n.*657-32T>G) c.716-32T>G (n.716-32T>G) c.734-32T>G (n.734-32T>G) c.*575-32T>G (n.*575-32T>G) c.794-32T>G (n.794-32T>G) | |
1 | g.7663321T= | CA1152023494 | CAMTA1 | c.806-32T= (n.806-32T=) c.*657-32T= (n.*657-32T=) c.716-32T= (n.716-32T=) c.734-32T= (n.734-32T=) c.*575-32T= (n.*575-32T=) c.794-32T= (n.794-32T=) | |
1 | g.7663322G>T | CA2643031689 | CAMTA1 | c.806-31G>T (n.806-31G>T) c.*657-31G>T (n.*657-31G>T) c.716-31G>T (n.716-31G>T) c.734-31G>T (n.734-31G>T) c.*575-31G>T (n.*575-31G>T) c.794-31G>T (n.794-31G>T) | gnomAD v4 |
1 | g.7663327_7663332dup | CA521019639 | CAMTA1 | c.806-26_806-21dup (n.806-26_806-21dup) c.*657-26_*657-21dup (n.*657-26_*657-21dup) c.716-26_716-21dup (n.716-26_716-21dup) c.734-26_734-21dup (n.734-26_734-21dup) c.*575-26_*575-21dup (n.*575-26_*575-21dup) c.794-26_794-21dup (n.794-26_794-21dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663327_7663332del | CA2574196926 | CAMTA1 | c.806-26_806-21del (n.806-26_806-21del) c.*657-26_*657-21del (n.*657-26_*657-21del) c.716-26_716-21del (n.716-26_716-21del) c.734-26_734-21del (n.734-26_734-21del) c.*575-26_*575-21del (n.*575-26_*575-21del) c.794-26_794-21del (n.794-26_794-21del) | |
1 | g.7663323C= | CA1141996442 | CAMTA1 | c.806-30C= (n.806-30C=) c.*657-30C= (n.*657-30C=) c.716-30C= (n.716-30C=) c.734-30C= (n.734-30C=) c.*575-30C= (n.*575-30C=) c.794-30C= (n.794-30C=) | |
1 | g.7663323C>T | CA566291 | CAMTA1 | c.806-30C>T (n.806-30C>T) c.*657-30C>T (n.*657-30C>T) c.716-30C>T (n.716-30C>T) c.734-30C>T (n.734-30C>T) c.*575-30C>T (n.*575-30C>T) c.794-30C>T (n.794-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663324G>A | CA566292 | CAMTA1 | c.806-29G>A (n.806-29G>A) c.*657-29G>A (n.*657-29G>A) c.716-29G>A (n.716-29G>A) c.734-29G>A (n.734-29G>A) c.*575-29G>A (n.*575-29G>A) c.794-29G>A (n.794-29G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663324G>C | CA2643031690 | CAMTA1 | c.806-29G>C (n.806-29G>C) c.*657-29G>C (n.*657-29G>C) c.716-29G>C (n.716-29G>C) c.734-29G>C (n.734-29G>C) c.*575-29G>C (n.*575-29G>C) c.794-29G>C (n.794-29G>C) | gnomAD v4 |
1 | g.7663324G= | CA1142128486 | CAMTA1 | c.806-29G= (n.806-29G=) c.*657-29G= (n.*657-29G=) c.716-29G= (n.716-29G=) c.734-29G= (n.734-29G=) c.*575-29G= (n.*575-29G=) c.794-29G= (n.794-29G=) | |
1 | g.7663325T>C | CA2643031691 | CAMTA1 | c.806-28T>C (n.806-28T>C) c.*657-28T>C (n.*657-28T>C) c.716-28T>C (n.716-28T>C) c.734-28T>C (n.734-28T>C) c.*575-28T>C (n.*575-28T>C) c.794-28T>C (n.794-28T>C) | gnomAD v4 |
1 | g.7663326G>A | CA2643031692 | CAMTA1 | c.806-27G>A (n.806-27G>A) c.*657-27G>A (n.*657-27G>A) c.716-27G>A (n.716-27G>A) c.734-27G>A (n.734-27G>A) c.*575-27G>A (n.*575-27G>A) c.794-27G>A (n.794-27G>A) | gnomAD v4 |
1 | g.7663326G>T | CA645644393 | CAMTA1 | c.806-27G>T (n.806-27G>T) c.*657-27G>T (n.*657-27G>T) c.716-27G>T (n.716-27G>T) c.734-27G>T (n.734-27G>T) c.*575-27G>T (n.*575-27G>T) c.794-27G>T (n.794-27G>T) | COSMIC |
1 | g.7663327C>A | CA17243718 | CAMTA1 | c.806-26C>A (n.806-26C>A) c.*657-26C>A (n.*657-26C>A) c.716-26C>A (n.716-26C>A) c.734-26C>A (n.734-26C>A) c.*575-26C>A (n.*575-26C>A) c.794-26C>A (n.794-26C>A) | dbSNP gnomAD v4 |
1 | g.7663327C= | CA1143556493 | CAMTA1 | c.806-26C= (n.806-26C=) c.*657-26C= (n.*657-26C=) c.716-26C= (n.716-26C=) c.734-26C= (n.734-26C=) c.*575-26C= (n.*575-26C=) c.794-26C= (n.794-26C=) | |
1 | g.7663327C>T | CA566293 | CAMTA1 | c.806-26C>T (n.806-26C>T) c.*657-26C>T (n.*657-26C>T) c.716-26C>T (n.716-26C>T) c.734-26C>T (n.734-26C>T) c.*575-26C>T (n.*575-26C>T) c.794-26C>T (n.794-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663328G>A | CA566294 | CAMTA1 | c.806-25G>A (n.806-25G>A) c.*657-25G>A (n.*657-25G>A) c.716-25G>A (n.716-25G>A) c.734-25G>A (n.734-25G>A) c.*575-25G>A (n.*575-25G>A) c.794-25G>A (n.794-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663328G= | CA1143530963 | CAMTA1 | c.806-25G= (n.806-25G=) c.*657-25G= (n.*657-25G=) c.716-25G= (n.716-25G=) c.734-25G= (n.734-25G=) c.*575-25G= (n.*575-25G=) c.794-25G= (n.794-25G=) | |
1 | g.7663329C>A | CA2643031693 | CAMTA1 | c.806-24C>A (n.806-24C>A) c.*657-24C>A (n.*657-24C>A) c.716-24C>A (n.716-24C>A) c.734-24C>A (n.734-24C>A) c.*575-24C>A (n.*575-24C>A) c.794-24C>A (n.794-24C>A) | gnomAD v4 |
1 | g.7663329C= | CA1152023508 | CAMTA1 | c.806-24C= (n.806-24C=) c.*657-24C= (n.*657-24C=) c.716-24C= (n.716-24C=) c.734-24C= (n.734-24C=) c.*575-24C= (n.*575-24C=) c.794-24C= (n.794-24C=) | |
1 | g.7663329C>T | CA566295 | CAMTA1 | c.806-24C>T (n.806-24C>T) c.*657-24C>T (n.*657-24C>T) c.716-24C>T (n.716-24C>T) c.734-24C>T (n.734-24C>T) c.*575-24C>T (n.*575-24C>T) c.794-24C>T (n.794-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663329_7663331delinsCGT | CA1152023510 | CAMTA1 | c.806-24_806-22delinsCGT (n.806-24_806-22delinsCGT) c.*657-24_*657-22delinsCGT (n.*657-24_*657-22delinsCGT) c.716-24_716-22delinsCGT (n.716-24_716-22delinsCGT) c.734-24_734-22delinsCGT (n.734-24_734-22delinsCGT) c.*575-24_*575-22delinsCGT (n.*575-24_*575-22delinsCGT) c.794-24_794-22delinsCGT (n.794-24_794-22delinsCGT) | |
1 | g.7663330G>A | CA566296 | CAMTA1 | c.806-23G>A (n.806-23G>A) c.*657-23G>A (n.*657-23G>A) c.716-23G>A (n.716-23G>A) c.734-23G>A (n.734-23G>A) c.*575-23G>A (n.*575-23G>A) c.794-23G>A (n.794-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663330G>C | CA1152023515 | CAMTA1 | c.806-23G>C (n.806-23G>C) c.*657-23G>C (n.*657-23G>C) c.716-23G>C (n.716-23G>C) c.734-23G>C (n.734-23G>C) c.*575-23G>C (n.*575-23G>C) c.794-23G>C (n.794-23G>C) | dbSNP gnomAD v4 |
1 | g.7663330G= | CA1143848933 | CAMTA1 | c.806-23G= (n.806-23G=) c.*657-23G= (n.*657-23G=) c.716-23G= (n.716-23G=) c.734-23G= (n.734-23G=) c.*575-23G= (n.*575-23G=) c.794-23G= (n.794-23G=) | |
1 | g.7663330G>T | CA738928228 | CAMTA1 | c.806-23G>T (n.806-23G>T) c.*657-23G>T (n.*657-23G>T) c.716-23G>T (n.716-23G>T) c.734-23G>T (n.734-23G>T) c.*575-23G>T (n.*575-23G>T) c.794-23G>T (n.794-23G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663332_7663333del | CA521019640 | CAMTA1 | c.806-21_806-20del (n.806-21_806-20del) c.*657-21_*657-20del (n.*657-21_*657-20del) c.716-21_716-20del (n.716-21_716-20del) c.734-21_734-20del (n.734-21_734-20del) c.*575-21_*575-20del (n.*575-21_*575-20del) c.794-21_794-20del (n.794-21_794-20del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663331T>C | CA738928234 | CAMTA1 | c.806-22T>C (n.806-22T>C) c.*657-22T>C (n.*657-22T>C) c.716-22T>C (n.716-22T>C) c.734-22T>C (n.734-22T>C) c.*575-22T>C (n.*575-22T>C) c.794-22T>C (n.794-22T>C) | dbSNP |
1 | g.7663331T>G | CA2643031694 | CAMTA1 | c.806-22T>G (n.806-22T>G) c.*657-22T>G (n.*657-22T>G) c.716-22T>G (n.716-22T>G) c.734-22T>G (n.734-22T>G) c.*575-22T>G (n.*575-22T>G) c.794-22T>G (n.794-22T>G) | gnomAD v4 |
1 | g.7663331T= | CA1152023518 | CAMTA1 | c.806-22T= (n.806-22T=) c.*657-22T= (n.*657-22T=) c.716-22T= (n.716-22T=) c.734-22T= (n.734-22T=) c.*575-22T= (n.*575-22T=) c.794-22T= (n.794-22T=) | |
1 | g.7663332G>A | CA2643031695 | CAMTA1 | c.806-21G>A (n.806-21G>A) c.*657-21G>A (n.*657-21G>A) c.716-21G>A (n.716-21G>A) c.734-21G>A (n.734-21G>A) c.*575-21G>A (n.*575-21G>A) c.794-21G>A (n.794-21G>A) | gnomAD v4 |
1 | g.7663333T>C | CA17243735 | CAMTA1 | c.806-20T>C (n.806-20T>C) c.*657-20T>C (n.*657-20T>C) c.716-20T>C (n.716-20T>C) c.734-20T>C (n.734-20T>C) c.*575-20T>C (n.*575-20T>C) c.794-20T>C (n.794-20T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663333T= | CA1152023521 | CAMTA1 | c.806-20T= (n.806-20T=) c.*657-20T= (n.*657-20T=) c.716-20T= (n.716-20T=) c.734-20T= (n.734-20T=) c.*575-20T= (n.*575-20T=) c.794-20T= (n.794-20T=) | |
1 | g.7663333_7663335delinsTTG | CA1152023522 | CAMTA1 | c.806-20_806-18delinsTTG (n.806-20_806-18delinsTTG) c.*657-20_*657-18delinsTTG (n.*657-20_*657-18delinsTTG) c.716-20_716-18delinsTTG (n.716-20_716-18delinsTTG) c.734-20_734-18delinsTTG (n.734-20_734-18delinsTTG) c.*575-20_*575-18delinsTTG (n.*575-20_*575-18delinsTTG) c.794-20_794-18delinsTTG (n.794-20_794-18delinsTTG) | |
1 | g.7663334T>C | CA2643031697 | CAMTA1 | c.806-19T>C (n.806-19T>C) c.*657-19T>C (n.*657-19T>C) c.716-19T>C (n.716-19T>C) c.734-19T>C (n.734-19T>C) c.*575-19T>C (n.*575-19T>C) c.794-19T>C (n.794-19T>C) | gnomAD v4 |
1 | g.7663334T>G | CA2643031696 | CAMTA1 | c.806-19T>G (n.806-19T>G) c.*657-19T>G (n.*657-19T>G) c.716-19T>G (n.716-19T>G) c.734-19T>G (n.734-19T>G) c.*575-19T>G (n.*575-19T>G) c.794-19T>G (n.794-19T>G) | gnomAD v4 |
1 | g.7663337_7663338del | CA738928240 | CAMTA1 | c.806-16_806-15del (n.806-16_806-15del) c.*657-16_*657-15del (n.*657-16_*657-15del) c.716-16_716-15del (n.716-16_716-15del) c.734-16_734-15del (n.734-16_734-15del) c.*575-16_*575-15del (n.*575-16_*575-15del) c.794-16_794-15del (n.794-16_794-15del) | dbSNP |
1 | g.7663335G>A | CA566297 | CAMTA1 | c.806-18G>A (n.806-18G>A) c.*657-18G>A (n.*657-18G>A) c.716-18G>A (n.716-18G>A) c.734-18G>A (n.734-18G>A) c.*575-18G>A (n.*575-18G>A) c.794-18G>A (n.794-18G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663335G= | CA1146970084 | CAMTA1 | c.806-18G= (n.806-18G=) c.*657-18G= (n.*657-18G=) c.716-18G= (n.716-18G=) c.734-18G= (n.734-18G=) c.*575-18G= (n.*575-18G=) c.794-18G= (n.794-18G=) | |
1 | g.7663337G>C | CA2643031698 | CAMTA1 | c.806-16G>C (n.806-16G>C) c.*657-16G>C (n.*657-16G>C) c.716-16G>C (n.716-16G>C) c.734-16G>C (n.734-16G>C) c.*575-16G>C (n.*575-16G>C) c.794-16G>C (n.794-16G>C) | gnomAD v4 |
1 | g.7663337G>T | CA645644395 | CAMTA1 | c.806-16G>T (n.806-16G>T) c.*657-16G>T (n.*657-16G>T) c.716-16G>T (n.716-16G>T) c.734-16G>T (n.734-16G>T) c.*575-16G>T (n.*575-16G>T) c.794-16G>T (n.794-16G>T) | COSMIC |
1 | g.7663340C>A | CA2643031699 | CAMTA1 | c.806-13C>A (n.806-13C>A) c.*657-13C>A (n.*657-13C>A) c.716-13C>A (n.716-13C>A) c.734-13C>A (n.734-13C>A) c.*575-13C>A (n.*575-13C>A) c.794-13C>A (n.794-13C>A) | gnomAD v4 |
1 | g.7663341C= | CA1142288404 | CAMTA1 | c.806-12C= (n.806-12C=) c.*657-12C= (n.*657-12C=) c.716-12C= (n.716-12C=) c.734-12C= (n.734-12C=) c.*575-12C= (n.*575-12C=) c.794-12C= (n.794-12C=) | |
1 | g.7663341C>T | CA566298 | CAMTA1 | c.806-12C>T (n.806-12C>T) c.*657-12C>T (n.*657-12C>T) c.716-12C>T (n.716-12C>T) c.734-12C>T (n.734-12C>T) c.*575-12C>T (n.*575-12C>T) c.794-12C>T (n.794-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663342G>A | CA566299 | CAMTA1 | c.806-11G>A (n.806-11G>A) c.*657-11G>A (n.*657-11G>A) c.716-11G>A (n.716-11G>A) c.734-11G>A (n.734-11G>A) c.*575-11G>A (n.*575-11G>A) c.794-11G>A (n.794-11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663342G>C | CA1152023535 | CAMTA1 | c.806-11G>C (n.806-11G>C) c.*657-11G>C (n.*657-11G>C) c.716-11G>C (n.716-11G>C) c.734-11G>C (n.734-11G>C) c.*575-11G>C (n.*575-11G>C) c.794-11G>C (n.794-11G>C) | dbSNP gnomAD v4 |
1 | g.7663342G= | CA1143448709 | CAMTA1 | c.806-11G= (n.806-11G=) c.*657-11G= (n.*657-11G=) c.716-11G= (n.716-11G=) c.734-11G= (n.734-11G=) c.*575-11G= (n.*575-11G=) c.794-11G= (n.794-11G=) | |
1 | g.7663344_7663345delinsTC | CA1152023536 | CAMTA1 | c.806-9_806-8delinsTC (n.806-9_806-8delinsTC) c.*657-9_*657-8delinsTC (n.*657-9_*657-8delinsTC) c.716-9_716-8delinsTC (n.716-9_716-8delinsTC) c.734-9_734-8delinsTC (n.734-9_734-8delinsTC) c.*575-9_*575-8delinsTC (n.*575-9_*575-8delinsTC) c.794-9_794-8delinsTC (n.794-9_794-8delinsTC) | |
1 | g.7663345del | CA916101774 | CAMTA1 | c.806-8del (n.806-8del) c.*657-8del (n.*657-8del) c.716-8del (n.716-8del) c.734-8del (n.734-8del) c.*575-8del (n.*575-8del) c.794-8del (n.794-8del) | dbSNP |
1 | g.7663345C>A | CA645511792 | CAMTA1 | c.806-8C>A (n.806-8C>A) c.*657-8C>A (n.*657-8C>A) c.716-8C>A (n.716-8C>A) c.734-8C>A (n.734-8C>A) c.*575-8C>A (n.*575-8C>A) c.794-8C>A (n.794-8C>A) | gnomAD v4 COSMIC |
1 | g.7663346_7663347delinsTC | CA1152023537 | CAMTA1 | c.806-7_806-6delinsTC (n.806-7_806-6delinsTC) c.*657-7_*657-6delinsTC (n.*657-7_*657-6delinsTC) c.716-7_716-6delinsTC (n.716-7_716-6delinsTC) c.734-7_734-6delinsTC (n.734-7_734-6delinsTC) c.*575-7_*575-6delinsTC (n.*575-7_*575-6delinsTC) c.794-7_794-6delinsTC (n.794-7_794-6delinsTC) | |
1 | g.7663346_7663348delinsTCC | CA1152023538 | CAMTA1 | c.806-7_806-5delinsTCC (n.806-7_806-5delinsTCC) c.*657-7_*657-5delinsTCC (n.*657-7_*657-5delinsTCC) c.716-7_716-5delinsTCC (n.716-7_716-5delinsTCC) c.734-7_734-5delinsTCC (n.734-7_734-5delinsTCC) c.*575-7_*575-5delinsTCC (n.*575-7_*575-5delinsTCC) c.794-7_794-5delinsTCC (n.794-7_794-5delinsTCC) | |
1 | g.7663347C>A | CA2643031700 | CAMTA1 | c.806-6C>A (n.806-6C>A) c.*657-6C>A (n.*657-6C>A) c.716-6C>A (n.716-6C>A) c.734-6C>A (n.734-6C>A) c.*575-6C>A (n.*575-6C>A) c.794-6C>A (n.794-6C>A) | gnomAD v4 |
1 | g.7663347C= | CA1152023543 | CAMTA1 | c.806-6C= (n.806-6C=) c.*657-6C= (n.*657-6C=) c.716-6C= (n.716-6C=) c.734-6C= (n.734-6C=) c.*575-6C= (n.*575-6C=) c.794-6C= (n.794-6C=) | |
1 | g.7663347C>T | CA521019641 | CAMTA1 | c.806-6C>T (n.806-6C>T) c.*657-6C>T (n.*657-6C>T) c.716-6C>T (n.716-6C>T) c.734-6C>T (n.734-6C>T) c.*575-6C>T (n.*575-6C>T) c.794-6C>T (n.794-6C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663347_7663348del | CA1152023542 | CAMTA1 | c.806-6_806-5del (n.806-6_806-5del) c.*657-6_*657-5del (n.*657-6_*657-5del) c.716-6_716-5del (n.716-6_716-5del) c.734-6_734-5del (n.734-6_734-5del) c.*575-6_*575-5del (n.*575-6_*575-5del) c.794-6_794-5del (n.794-6_794-5del) | dbSNP |
1 | g.7663347_7663348delinsCC | CA1143408997 | CAMTA1 | c.806-6_806-5delinsCC (n.806-6_806-5delinsCC) c.*657-6_*657-5delinsCC (n.*657-6_*657-5delinsCC) c.716-6_716-5delinsCC (n.716-6_716-5delinsCC) c.734-6_734-5delinsCC (n.734-6_734-5delinsCC) c.*575-6_*575-5delinsCC (n.*575-6_*575-5delinsCC) c.794-6_794-5delinsCC (n.794-6_794-5delinsCC) | |
1 | g.7663348del | CA566300 | CAMTA1 | c.806-5del (n.806-5del) c.*657-5del (n.*657-5del) c.716-5del (n.716-5del) c.734-5del (n.734-5del) c.*575-5del (n.*575-5del) c.794-5del (n.794-5del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663348C= | CA1141844572 | CAMTA1 | c.806-5C= (n.806-5C=) c.*657-5C= (n.*657-5C=) c.716-5C= (n.716-5C=) c.734-5C= (n.734-5C=) c.*575-5C= (n.*575-5C=) c.794-5C= (n.794-5C=) | |
1 | g.7663348C>T | CA566301 | CAMTA1 | c.806-5C>T (n.806-5C>T) c.*657-5C>T (n.*657-5C>T) c.716-5C>T (n.716-5C>T) c.734-5C>T (n.734-5C>T) c.*575-5C>T (n.*575-5C>T) c.794-5C>T (n.794-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663349G>A | CA566302 | CAMTA1 | c.806-4G>A (n.806-4G>A) c.*657-4G>A (n.*657-4G>A) c.716-4G>A (n.716-4G>A) c.734-4G>A (n.734-4G>A) c.*575-4G>A (n.*575-4G>A) c.794-4G>A (n.794-4G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663349G= | CA1152023546 | CAMTA1 | c.806-4G= (n.806-4G=) c.*657-4G= (n.*657-4G=) c.716-4G= (n.716-4G=) c.734-4G= (n.734-4G=) c.*575-4G= (n.*575-4G=) c.794-4G= (n.794-4G=) | |
1 | g.7663349G>T | CA2643031701 | CAMTA1 | c.806-4G>T (n.806-4G>T) c.*657-4G>T (n.*657-4G>T) c.716-4G>T (n.716-4G>T) c.734-4G>T (n.734-4G>T) c.*575-4G>T (n.*575-4G>T) c.794-4G>T (n.794-4G>T) | gnomAD v4 |
1 | g.7663350C>A | CA2643031702 | CAMTA1 | c.806-3C>A (n.806-3C>A) c.*657-3C>A (n.*657-3C>A) c.716-3C>A (n.716-3C>A) c.734-3C>A (n.734-3C>A) c.*575-3C>A (n.*575-3C>A) c.794-3C>A (n.794-3C>A) | gnomAD v4 |
1 | g.7663350C>T | CA2574196928 | CAMTA1 | c.806-3C>T (n.806-3C>T) c.*657-3C>T (n.*657-3C>T) c.716-3C>T (n.716-3C>T) c.734-3C>T (n.734-3C>T) c.*575-3C>T (n.*575-3C>T) c.794-3C>T (n.794-3C>T) | |
1 | g.7663351A>C | CA338121172 | CAMTA1 | c.806-2A>C (n.806-2A>C) c.*657-2A>C (n.*657-2A>C) c.716-2A>C (n.716-2A>C) c.734-2A>C (n.734-2A>C) c.*575-2A>C (n.*575-2A>C) c.794-2A>C (n.794-2A>C) | |
1 | g.7663351A>G | CA338121174 | CAMTA1 | c.806-2A>G (n.806-2A>G) c.*657-2A>G (n.*657-2A>G) c.716-2A>G (n.716-2A>G) c.734-2A>G (n.734-2A>G) c.*575-2A>G (n.*575-2A>G) c.794-2A>G (n.794-2A>G) | |
1 | g.7663351A>T | CA338121177 | CAMTA1 | c.806-2A>T (n.806-2A>T) c.*657-2A>T (n.*657-2A>T) c.716-2A>T (n.716-2A>T) c.734-2A>T (n.734-2A>T) c.*575-2A>T (n.*575-2A>T) c.794-2A>T (n.794-2A>T) | |
1 | g.7663352G>A | CA338121188 | CAMTA1 | c.806-1G>A (n.806-1G>A) c.*657-1G>A (n.*657-1G>A) c.716-1G>A (n.716-1G>A) c.734-1G>A (n.734-1G>A) c.*575-1G>A (n.*575-1G>A) c.794-1G>A (n.794-1G>A) | |
1 | g.7663352G>C | CA338121186 | CAMTA1 | c.806-1G>C (n.806-1G>C) c.*657-1G>C (n.*657-1G>C) c.716-1G>C (n.716-1G>C) c.734-1G>C (n.734-1G>C) c.*575-1G>C (n.*575-1G>C) c.794-1G>C (n.794-1G>C) | |
1 | g.7663352G>T | CA338121183 | CAMTA1 | c.806-1G>T (n.806-1G>T) c.*657-1G>T (n.*657-1G>T) c.716-1G>T (n.716-1G>T) c.734-1G>T (n.734-1G>T) c.*575-1G>T (n.*575-1G>T) c.794-1G>T (n.794-1G>T) | COSMIC |
1 | g.7663353G>A | CA338121193 | CAMTA1 | c.806G>A (p.Gly269Glu) c.*657G>A (n.*657G>A) c.716G>A (p.Gly239Glu) c.734G>A (p.Gly245Glu) c.*575G>A (n.*575G>A) c.794G>A (p.Gly265Glu) | dbSNP gnomAD v4 |
1 | g.7663353G>C | CA338121196 | CAMTA1 | c.806G>C (p.Gly269Ala) c.*657G>C (n.*657G>C) c.716G>C (p.Gly239Ala) c.734G>C (p.Gly245Ala) c.*575G>C (n.*575G>C) c.794G>C (p.Gly265Ala) | |
1 | g.7663353G= | CA1152023549 | CAMTA1 | c.806G= (p.Gly269=) c.*657G= (n.*657G=) c.716G= (p.Gly239=) c.734G= (p.Gly245=) c.*575G= (n.*575G=) c.794G= (p.Gly265=) | |
1 | g.7663353G>T | CA338121210 | CAMTA1 | c.806G>T (p.Gly269Val) c.*657G>T (n.*657G>T) c.716G>T (p.Gly239Val) c.734G>T (p.Gly245Val) c.*575G>T (n.*575G>T) c.794G>T (p.Gly265Val) | |
1 | g.7663354A>C | CA416026286 | CAMTA1 | c.807A>C (p.Gly269=) c.*658A>C (n.*658A>C) c.717A>C (p.Gly239=) c.735A>C (p.Gly245=) c.*576A>C (n.*576A>C) c.795A>C (p.Gly265=) | |
1 | g.7663354A>G | CA416026287 | CAMTA1 | c.807A>G (p.Gly269=) c.*658A>G (n.*658A>G) c.717A>G (p.Gly239=) c.735A>G (p.Gly245=) c.*576A>G (n.*576A>G) c.795A>G (p.Gly265=) | |
1 | g.7663354A>T | CA416026288 | CAMTA1 | c.807A>T (p.Gly269=) c.*658A>T (n.*658A>T) c.717A>T (p.Gly239=) c.735A>T (p.Gly245=) c.*576A>T (n.*576A>T) c.795A>T (p.Gly265=) | |
1 | g.7663355G>A | CA338121213 | CAMTA1 | c.808G>A (p.Ala270Thr) c.*659G>A (n.*659G>A) c.718G>A (p.Ala240Thr) c.736G>A (p.Ala246Thr) c.*577G>A (n.*577G>A) c.796G>A (p.Ala266Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663355G>C | CA338121216 | CAMTA1 | c.808G>C (p.Ala270Pro) c.*659G>C (n.*659G>C) c.718G>C (p.Ala240Pro) c.736G>C (p.Ala246Pro) c.*577G>C (n.*577G>C) c.796G>C (p.Ala266Pro) | |
1 | g.7663355G= | CA1152023551 | CAMTA1 | c.808G= (p.Ala270=) c.*659G= (n.*659G=) c.718G= (p.Ala240=) c.736G= (p.Ala246=) c.*577G= (n.*577G=) c.796G= (p.Ala266=) | |
1 | g.7663355G>T | CA338121218 | CAMTA1 | c.808G>T (p.Ala270Ser) c.*659G>T (n.*659G>T) c.718G>T (p.Ala240Ser) c.736G>T (p.Ala246Ser) c.*577G>T (n.*577G>T) c.796G>T (p.Ala266Ser) | |
1 | g.7663356C>A | CA338121222 | CAMTA1 | c.809C>A (p.Ala270Asp) c.*660C>A (n.*660C>A) c.719C>A (p.Ala240Asp) c.737C>A (p.Ala246Asp) c.*578C>A (n.*578C>A) c.797C>A (p.Ala266Asp) | gnomAD v4 |
1 | g.7663356C>G | CA338121221 | CAMTA1 | c.809C>G (p.Ala270Gly) c.*660C>G (n.*660C>G) c.719C>G (p.Ala240Gly) c.737C>G (p.Ala246Gly) c.*578C>G (n.*578C>G) c.797C>G (p.Ala266Gly) | |
1 | g.7663356C>T | CA338121220 | CAMTA1 | c.809C>T (p.Ala270Val) c.*660C>T (n.*660C>T) c.719C>T (p.Ala240Val) c.737C>T (p.Ala246Val) c.*578C>T (n.*578C>T) c.797C>T (p.Ala266Val) | ClinVar dbSNP |
1 | g.7663357T>A | CA416026294 | CAMTA1 | c.810T>A (p.Ala270=) c.*661T>A (n.*661T>A) c.720T>A (p.Ala240=) c.738T>A (p.Ala246=) c.*579T>A (n.*579T>A) c.798T>A (p.Ala266=) | |
1 | g.7663357T>C | CA416026295 | CAMTA1 | c.810T>C (p.Ala270=) c.*661T>C (n.*661T>C) c.720T>C (p.Ala240=) c.738T>C (p.Ala246=) c.*579T>C (n.*579T>C) c.798T>C (p.Ala266=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663357T>G | CA416026296 | CAMTA1 | c.810T>G (p.Ala270=) c.*661T>G (n.*661T>G) c.720T>G (p.Ala240=) c.738T>G (p.Ala246=) c.*579T>G (n.*579T>G) c.798T>G (p.Ala266=) | |
1 | g.7663357T= | CA1152023553 | CAMTA1 | c.810T= (p.Ala270=) c.*661T= (n.*661T=) c.720T= (p.Ala240=) c.738T= (p.Ala246=) c.*579T= (n.*579T=) c.798T= (p.Ala266=) | |
1 | g.7663358G>A | CA338121223 | CAMTA1 | c.811G>A (p.Gly271Ser) c.*662G>A (n.*662G>A) c.721G>A (p.Gly241Ser) c.739G>A (p.Gly247Ser) c.*580G>A (n.*580G>A) c.799G>A (p.Gly267Ser) | gnomAD v4 COSMIC |
1 | g.7663358G>C | CA338121224 | CAMTA1 | c.811G>C (p.Gly271Arg) c.*662G>C (n.*662G>C) c.721G>C (p.Gly241Arg) c.739G>C (p.Gly247Arg) c.*580G>C (n.*580G>C) c.799G>C (p.Gly267Arg) | |
1 | g.7663358G= | CA1152023557 | CAMTA1 | c.811G= (p.Gly271=) c.*662G= (n.*662G=) c.721G= (p.Gly241=) c.739G= (p.Gly247=) c.*580G= (n.*580G=) c.799G= (p.Gly267=) | |
1 | g.7663358G>T | CA338121226 | CAMTA1 | c.811G>T (p.Gly271Cys) c.*662G>T (n.*662G>T) c.721G>T (p.Gly241Cys) c.739G>T (p.Gly247Cys) c.*580G>T (n.*580G>T) c.799G>T (p.Gly267Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663359G>A | CA338121228 | CAMTA1 | c.812G>A (p.Gly271Asp) c.*663G>A (n.*663G>A) c.722G>A (p.Gly241Asp) c.740G>A (p.Gly247Asp) c.*581G>A (n.*581G>A) c.800G>A (p.Gly267Asp) | |
1 | g.7663359G>C | CA338121233 | CAMTA1 | c.812G>C (p.Gly271Ala) c.*663G>C (n.*663G>C) c.722G>C (p.Gly241Ala) c.740G>C (p.Gly247Ala) c.*581G>C (n.*581G>C) c.800G>C (p.Gly267Ala) | |
1 | g.7663359G>T | CA338121235 | CAMTA1 | c.812G>T (p.Gly271Val) c.*663G>T (n.*663G>T) c.722G>T (p.Gly241Val) c.740G>T (p.Gly247Val) c.*581G>T (n.*581G>T) c.800G>T (p.Gly267Val) | |
1 | g.7663360C>A | CA416026298 | CAMTA1 | c.813C>A (p.Gly271=) c.*664C>A (n.*664C>A) c.723C>A (p.Gly241=) c.741C>A (p.Gly247=) c.*582C>A (n.*582C>A) c.801C>A (p.Gly267=) | gnomAD v4 |
1 | g.7663360C= | CA1152023558 | CAMTA1 | c.813C= (p.Gly271=) c.*664C= (n.*664C=) c.723C= (p.Gly241=) c.741C= (p.Gly247=) c.*582C= (n.*582C=) c.801C= (p.Gly267=) | |
1 | g.7663360C>G | CA416026300 | CAMTA1 | c.813C>G (p.Gly271=) c.*664C>G (n.*664C>G) c.723C>G (p.Gly241=) c.741C>G (p.Gly247=) c.*582C>G (n.*582C>G) c.801C>G (p.Gly267=) | |
1 | g.7663360C>T | CA416026301 | CAMTA1 | c.813C>T (p.Gly271=) c.*664C>T (n.*664C>T) c.723C>T (p.Gly241=) c.741C>T (p.Gly247=) c.*582C>T (n.*582C>T) c.801C>T (p.Gly267=) | ClinVar dbSNP gnomAD v4 |
1 | g.7663361G>A | CA566303 | CAMTA1 | c.814G>A (p.Gly272Ser) c.*665G>A (n.*665G>A) c.724G>A (p.Gly242Ser) c.742G>A (p.Gly248Ser) c.*583G>A (n.*583G>A) c.802G>A (p.Gly268Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663361G>C | CA338121240 | CAMTA1 | c.814G>C (p.Gly272Arg) c.*665G>C (n.*665G>C) c.724G>C (p.Gly242Arg) c.742G>C (p.Gly248Arg) c.*583G>C (n.*583G>C) c.802G>C (p.Gly268Arg) | |
1 | g.7663361G= | CA1143507317 | CAMTA1 | c.814G= (p.Gly272=) c.*665G= (n.*665G=) c.724G= (p.Gly242=) c.742G= (p.Gly248=) c.*583G= (n.*583G=) c.802G= (p.Gly268=) | |
1 | g.7663361G>T | CA338121239 | CAMTA1 | c.814G>T (p.Gly272Cys) c.*665G>T (n.*665G>T) c.724G>T (p.Gly242Cys) c.742G>T (p.Gly248Cys) c.*583G>T (n.*583G>T) c.802G>T (p.Gly268Cys) | |
1 | g.7663362G>A | CA338121244 | CAMTA1 | c.815G>A (p.Gly272Asp) c.*666G>A (n.*666G>A) c.725G>A (p.Gly242Asp) c.743G>A (p.Gly248Asp) c.*584G>A (n.*584G>A) c.803G>A (p.Gly268Asp) | gnomAD v4 |
1 | g.7663362G>C | CA338121247 | CAMTA1 | c.815G>C (p.Gly272Ala) c.*666G>C (n.*666G>C) c.725G>C (p.Gly242Ala) c.743G>C (p.Gly248Ala) c.*584G>C (n.*584G>C) c.803G>C (p.Gly268Ala) | |
1 | g.7663362G>T | CA338121249 | CAMTA1 | c.815G>T (p.Gly272Val) c.*666G>T (n.*666G>T) c.725G>T (p.Gly242Val) c.743G>T (p.Gly248Val) c.*584G>T (n.*584G>T) c.803G>T (p.Gly268Val) | gnomAD v4 |
1 | g.7663363C>A | CA416026330 | CAMTA1 | c.816C>A (p.Gly272=) c.*667C>A (n.*667C>A) c.726C>A (p.Gly242=) c.744C>A (p.Gly248=) c.*585C>A (n.*585C>A) c.804C>A (p.Gly268=) | |
1 | g.7663363C= | CA1152023565 | CAMTA1 | c.816C= (p.Gly272=) c.*667C= (n.*667C=) c.726C= (p.Gly242=) c.744C= (p.Gly248=) c.*585C= (n.*585C=) c.804C= (p.Gly268=) | |
1 | g.7663363C>G | CA416026331 | CAMTA1 | c.816C>G (p.Gly272=) c.*667C>G (n.*667C>G) c.726C>G (p.Gly242=) c.744C>G (p.Gly248=) c.*585C>G (n.*585C>G) c.804C>G (p.Gly268=) | |
1 | g.7663363C>T | CA416026332 | CAMTA1 | c.816C>T (p.Gly272=) c.*667C>T (n.*667C>T) c.726C>T (p.Gly242=) c.744C>T (p.Gly248=) c.*585C>T (n.*585C>T) c.804C>T (p.Gly268=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663364A>C | CA338121256 | CAMTA1 | c.817A>C (p.Ser273Arg) c.*668A>C (n.*668A>C) c.727A>C (p.Ser243Arg) c.745A>C (p.Ser249Arg) c.*586A>C (n.*586A>C) c.805A>C (p.Ser269Arg) | |
1 | g.7663364A>G | CA338121257 | CAMTA1 | c.817A>G (p.Ser273Gly) c.*668A>G (n.*668A>G) c.727A>G (p.Ser243Gly) c.745A>G (p.Ser249Gly) c.*586A>G (n.*586A>G) c.805A>G (p.Ser269Gly) | |
1 | g.7663364A>T | CA338121264 | CAMTA1 | c.817A>T (p.Ser273Cys) c.*668A>T (n.*668A>T) c.727A>T (p.Ser243Cys) c.745A>T (p.Ser249Cys) c.*586A>T (n.*586A>T) c.805A>T (p.Ser269Cys) | gnomAD v4 |
1 | g.7663365G>A | CA338121267 | CAMTA1 | c.818G>A (p.Ser273Asn) c.*669G>A (n.*669G>A) c.728G>A (p.Ser243Asn) c.746G>A (p.Ser249Asn) c.*587G>A (n.*587G>A) c.806G>A (p.Ser269Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663365G>C | CA338121271 | CAMTA1 | c.818G>C (p.Ser273Thr) c.*669G>C (n.*669G>C) c.728G>C (p.Ser243Thr) c.746G>C (p.Ser249Thr) c.*587G>C (n.*587G>C) c.806G>C (p.Ser269Thr) | |
1 | g.7663365G= | CA1152023567 | CAMTA1 | c.818G= (p.Ser273=) c.*669G= (n.*669G=) c.728G= (p.Ser243=) c.746G= (p.Ser249=) c.*587G= (n.*587G=) c.806G= (p.Ser269=) | |
1 | g.7663365G>T | CA338121275 | CAMTA1 | c.818G>T (p.Ser273Ile) c.*669G>T (n.*669G>T) c.728G>T (p.Ser243Ile) c.746G>T (p.Ser249Ile) c.*587G>T (n.*587G>T) c.806G>T (p.Ser269Ile) | |
1 | g.7663366C>A | CA338121276 | CAMTA1 | c.819C>A (p.Ser273Arg) c.*670C>A (n.*670C>A) c.729C>A (p.Ser243Arg) c.747C>A (p.Ser249Arg) c.*588C>A (n.*588C>A) c.807C>A (p.Ser269Arg) | gnomAD v4 |
1 | g.7663366C= | CA1152023571 | CAMTA1 | c.819C= (p.Ser273=) c.*670C= (n.*670C=) c.729C= (p.Ser243=) c.747C= (p.Ser249=) c.*588C= (n.*588C=) c.807C= (p.Ser269=) | |
1 | g.7663366C>G | CA338121277 | CAMTA1 | c.819C>G (p.Ser273Arg) c.*670C>G (n.*670C>G) c.729C>G (p.Ser243Arg) c.747C>G (p.Ser249Arg) c.*588C>G (n.*588C>G) c.807C>G (p.Ser269Arg) | |
1 | g.7663366C>T | CA566304 | CAMTA1 | c.819C>T (p.Ser273=) c.*670C>T (n.*670C>T) c.729C>T (p.Ser243=) c.747C>T (p.Ser249=) c.*588C>T (n.*588C>T) c.807C>T (p.Ser269=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663367G>A | CA566305 | CAMTA1 | c.820G>A (p.Val274Met) c.*671G>A (n.*671G>A) c.730G>A (p.Val244Met) c.748G>A (p.Val250Met) c.*589G>A (n.*589G>A) c.808G>A (p.Val270Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663367G>C | CA338121280 | CAMTA1 | c.820G>C (p.Val274Leu) c.*671G>C (n.*671G>C) c.730G>C (p.Val244Leu) c.748G>C (p.Val250Leu) c.*589G>C (n.*589G>C) c.808G>C (p.Val270Leu) | |
1 | g.7663367G= | CA1141033418 | CAMTA1 | c.820G= (p.Val274=) c.*671G= (n.*671G=) c.730G= (p.Val244=) c.748G= (p.Val250=) c.*589G= (n.*589G=) c.808G= (p.Val270=) | |
1 | g.7663367G>T | CA17243752 | CAMTA1 | c.820G>T (p.Val274Leu) c.*671G>T (n.*671G>T) c.730G>T (p.Val244Leu) c.748G>T (p.Val250Leu) c.*589G>T (n.*589G>T) c.808G>T (p.Val270Leu) | dbSNP gnomAD v4 |
1 | g.7663368T>A | CA338121283 | CAMTA1 | c.821T>A (p.Val274Glu) c.*672T>A (n.*672T>A) c.731T>A (p.Val244Glu) c.749T>A (p.Val250Glu) c.*590T>A (n.*590T>A) c.809T>A (p.Val270Glu) | |
1 | g.7663368T>C | CA338121286 | CAMTA1 | c.821T>C (p.Val274Ala) c.*672T>C (n.*672T>C) c.731T>C (p.Val244Ala) c.749T>C (p.Val250Ala) c.*590T>C (n.*590T>C) c.809T>C (p.Val270Ala) | gnomAD v4 |
1 | g.7663368T>G | CA338121289 | CAMTA1 | c.821T>G (p.Val274Gly) c.*672T>G (n.*672T>G) c.731T>G (p.Val244Gly) c.749T>G (p.Val250Gly) c.*590T>G (n.*590T>G) c.809T>G (p.Val270Gly) | dbSNP |
1 | g.7663368T= | CA1152023586 | CAMTA1 | c.821T= (p.Val274=) c.*672T= (n.*672T=) c.731T= (p.Val244=) c.749T= (p.Val250=) c.*590T= (n.*590T=) c.809T= (p.Val270=) | |
1 | g.7663369del | CA2837994488 | CAMTA1 | c.822del (p.His275IlefsTer?) c.*673del (n.*673del) c.732del (p.His245IlefsTer?) c.750del (p.His251IlefsTer?) c.*591del (n.*591del) c.810del (p.His271IlefsTer?) | |
1 | g.7663369G>A | CA416026335 | CAMTA1 | c.822G>A (p.Val274=) c.*673G>A (n.*673G>A) c.732G>A (p.Val244=) c.750G>A (p.Val250=) c.*591G>A (n.*591G>A) c.810G>A (p.Val270=) | gnomAD v4 |
1 | g.7663369G>C | CA416026333 | CAMTA1 | c.822G>C (p.Val274=) c.*673G>C (n.*673G>C) c.732G>C (p.Val244=) c.750G>C (p.Val250=) c.*591G>C (n.*591G>C) c.810G>C (p.Val270=) | |
1 | g.7663369G>T | CA416026334 | CAMTA1 | c.822G>T (p.Val274=) c.*673G>T (n.*673G>T) c.732G>T (p.Val244=) c.750G>T (p.Val250=) c.*591G>T (n.*591G>T) c.810G>T (p.Val270=) | COSMIC COSMIC |
1 | g.7663370C>A | CA338121292 | CAMTA1 | c.823C>A (p.His275Asn) c.*674C>A (n.*674C>A) c.733C>A (p.His245Asn) c.751C>A (p.His251Asn) c.*592C>A (n.*592C>A) c.811C>A (p.His271Asn) | gnomAD v4 |
1 | g.7663370C= | CA1152023589 | CAMTA1 | c.823C= (p.His275=) c.*674C= (n.*674C=) c.733C= (p.His245=) c.751C= (p.His251=) c.*592C= (n.*592C=) c.811C= (p.His271=) | |
1 | g.7663370C>G | CA338121294 | CAMTA1 | c.823C>G (p.His275Asp) c.*674C>G (n.*674C>G) c.733C>G (p.His245Asp) c.751C>G (p.His251Asp) c.*592C>G (n.*592C>G) c.811C>G (p.His271Asp) | |
1 | g.7663370C>T | CA566306 | CAMTA1 | c.823C>T (p.His275Tyr) c.*674C>T (n.*674C>T) c.733C>T (p.His245Tyr) c.751C>T (p.His251Tyr) c.*592C>T (n.*592C>T) c.811C>T (p.His271Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663371A>C | CA338121305 | CAMTA1 | c.824A>C (p.His275Pro) c.*675A>C (n.*675A>C) c.734A>C (p.His245Pro) c.752A>C (p.His251Pro) c.*593A>C (n.*593A>C) c.812A>C (p.His271Pro) | |
1 | g.7663371A>G | CA338121299 | CAMTA1 | c.824A>G (p.His275Arg) c.*675A>G (n.*675A>G) c.734A>G (p.His245Arg) c.752A>G (p.His251Arg) c.*593A>G (n.*593A>G) c.812A>G (p.His271Arg) | |
1 | g.7663371A>T | CA338121301 | CAMTA1 | c.824A>T (p.His275Leu) c.*675A>T (n.*675A>T) c.734A>T (p.His245Leu) c.752A>T (p.His251Leu) c.*593A>T (n.*593A>T) c.812A>T (p.His271Leu) | |
1 | g.7663372T>A | CA338121308 | CAMTA1 | c.825T>A (p.His275Gln) c.*676T>A (n.*676T>A) c.735T>A (p.His245Gln) c.753T>A (p.His251Gln) c.*594T>A (n.*594T>A) c.813T>A (p.His271Gln) | |
1 | g.7663372T>C | CA416026336 | CAMTA1 | c.825T>C (p.His275=) c.*676T>C (n.*676T>C) c.735T>C (p.His245=) c.753T>C (p.His251=) c.*594T>C (n.*594T>C) c.813T>C (p.His271=) | gnomAD v4 |
1 | g.7663372T>G | CA338121311 | CAMTA1 | c.825T>G (p.His275Gln) c.*676T>G (n.*676T>G) c.735T>G (p.His245Gln) c.753T>G (p.His251Gln) c.*594T>G (n.*594T>G) c.813T>G (p.His271Gln) | |
1 | g.7663373C>A | CA338121314 | CAMTA1 | c.826C>A (p.His276Asn) c.*677C>A (n.*677C>A) c.736C>A (p.His246Asn) c.754C>A (p.His252Asn) c.*595C>A (n.*595C>A) c.814C>A (p.His272Asn) | |
1 | g.7663373C>G | CA338121317 | CAMTA1 | c.826C>G (p.His276Asp) c.*677C>G (n.*677C>G) c.736C>G (p.His246Asp) c.754C>G (p.His252Asp) c.*595C>G (n.*595C>G) c.814C>G (p.His272Asp) | |
1 | g.7663373C>T | CA338121319 | CAMTA1 | c.826C>T (p.His276Tyr) c.*677C>T (n.*677C>T) c.736C>T (p.His246Tyr) c.754C>T (p.His252Tyr) c.*595C>T (n.*595C>T) c.814C>T (p.His272Tyr) | |
1 | g.7663374A>C | CA338121321 | CAMTA1 | c.827A>C (p.His276Pro) c.*678A>C (n.*678A>C) c.737A>C (p.His246Pro) c.755A>C (p.His252Pro) c.*596A>C (n.*596A>C) c.815A>C (p.His272Pro) | |
1 | g.7663374A>G | CA338121326 | CAMTA1 | c.827A>G (p.His276Arg) c.*678A>G (n.*678A>G) c.737A>G (p.His246Arg) c.755A>G (p.His252Arg) c.*596A>G (n.*596A>G) c.815A>G (p.His272Arg) | |
1 | g.7663374A>T | CA338121324 | CAMTA1 | c.827A>T (p.His276Leu) c.*678A>T (n.*678A>T) c.737A>T (p.His246Leu) c.755A>T (p.His252Leu) c.*596A>T (n.*596A>T) c.815A>T (p.His272Leu) | |
1 | g.7663375C>A | CA338121330 | CAMTA1 | c.828C>A (p.His276Gln) c.*679C>A (n.*679C>A) c.738C>A (p.His246Gln) c.756C>A (p.His252Gln) c.*597C>A (n.*597C>A) c.816C>A (p.His272Gln) | gnomAD v4 |
1 | g.7663375C>G | CA338121333 | CAMTA1 | c.828C>G (p.His276Gln) c.*679C>G (n.*679C>G) c.738C>G (p.His246Gln) c.756C>G (p.His252Gln) c.*597C>G (n.*597C>G) c.816C>G (p.His272Gln) | |
1 | g.7663375C>T | CA416026337 | CAMTA1 | c.828C>T (p.His276=) c.*679C>T (n.*679C>T) c.738C>T (p.His246=) c.756C>T (p.His252=) c.*597C>T (n.*597C>T) c.816C>T (p.His272=) | |
1 | g.7663376A>C | CA338121338 | CAMTA1 | c.829A>C (p.Lys277Gln) c.*680A>C (n.*680A>C) c.739A>C (p.Lys247Gln) c.757A>C (p.Lys253Gln) c.*598A>C (n.*598A>C) c.817A>C (p.Lys273Gln) | |
1 | g.7663376A>G | CA338121340 | CAMTA1 | c.829A>G (p.Lys277Glu) c.*680A>G (n.*680A>G) c.739A>G (p.Lys247Glu) c.757A>G (p.Lys253Glu) c.*598A>G (n.*598A>G) c.817A>G (p.Lys273Glu) | dbSNP |
1 | g.7663376A>T | CA338121343 | CAMTA1 | c.829A>T (p.Lys277Ter) c.*680A>T (n.*680A>T) c.739A>T (p.Lys247Ter) c.757A>T (p.Lys253Ter) c.*598A>T (n.*598A>T) c.817A>T (p.Lys273Ter) | |
1 | g.7663377A>C | CA338121347 | CAMTA1 | c.830A>C (p.Lys277Thr) c.*681A>C (n.*681A>C) c.740A>C (p.Lys247Thr) c.758A>C (p.Lys253Thr) c.*599A>C (n.*599A>C) c.818A>C (p.Lys273Thr) | |
1 | g.7663377A>G | CA338121350 | CAMTA1 | c.830A>G (p.Lys277Arg) c.*681A>G (n.*681A>G) c.740A>G (p.Lys247Arg) c.758A>G (p.Lys253Arg) c.*599A>G (n.*599A>G) c.818A>G (p.Lys273Arg) | |
1 | g.7663377A>T | CA338121353 | CAMTA1 | c.830A>T (p.Lys277Met) c.*681A>T (n.*681A>T) c.740A>T (p.Lys247Met) c.758A>T (p.Lys253Met) c.*599A>T (n.*599A>T) c.818A>T (p.Lys273Met) | |
1 | g.7663378G>A | CA566307 | CAMTA1 | c.831G>A (p.Lys277=) c.*682G>A (n.*682G>A) c.741G>A (p.Lys247=) c.759G>A (p.Lys253=) c.*600G>A (n.*600G>A) c.819G>A (p.Lys273=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663378G>C | CA338121358 | CAMTA1 | c.831G>C (p.Lys277Asn) c.*682G>C (n.*682G>C) c.741G>C (p.Lys247Asn) c.759G>C (p.Lys253Asn) c.*600G>C (n.*600G>C) c.819G>C (p.Lys273Asn) | |
1 | g.7663378G= | CA1152023591 | CAMTA1 | c.831G= (p.Lys277=) c.*682G= (n.*682G=) c.741G= (p.Lys247=) c.759G= (p.Lys253=) c.*600G= (n.*600G=) c.819G= (p.Lys273=) | |
1 | g.7663378G>T | CA338121359 | CAMTA1 | c.831G>T (p.Lys277Asn) c.*682G>T (n.*682G>T) c.741G>T (p.Lys247Asn) c.759G>T (p.Lys253Asn) c.*600G>T (n.*600G>T) c.819G>T (p.Lys273Asn) | |
1 | g.7663379T>A | CA338121361 | CAMTA1 | c.832T>A (p.Cys278Ser) c.*683T>A (n.*683T>A) c.742T>A (p.Cys248Ser) c.760T>A (p.Cys254Ser) c.*601T>A (n.*601T>A) c.820T>A (p.Cys274Ser) | |
1 | g.7663379T>C | CA338121362 | CAMTA1 | c.832T>C (p.Cys278Arg) c.*683T>C (n.*683T>C) c.742T>C (p.Cys248Arg) c.760T>C (p.Cys254Arg) c.*601T>C (n.*601T>C) c.820T>C (p.Cys274Arg) | gnomAD v4 |
1 | g.7663379T>G | CA338121360 | CAMTA1 | c.832T>G (p.Cys278Gly) c.*683T>G (n.*683T>G) c.742T>G (p.Cys248Gly) c.760T>G (p.Cys254Gly) c.*601T>G (n.*601T>G) c.820T>G (p.Cys274Gly) | |
1 | g.7663380G>A | CA338121372 | CAMTA1 | c.833G>A (p.Cys278Tyr) c.*684G>A (n.*684G>A) c.743G>A (p.Cys248Tyr) c.761G>A (p.Cys254Tyr) c.*602G>A (n.*602G>A) c.821G>A (p.Cys274Tyr) | dbSNP |
1 | g.7663380G>C | CA338121365 | CAMTA1 | c.833G>C (p.Cys278Ser) c.*684G>C (n.*684G>C) c.743G>C (p.Cys248Ser) c.761G>C (p.Cys254Ser) c.*602G>C (n.*602G>C) c.821G>C (p.Cys274Ser) | ClinVar |
1 | g.7663380G>T | CA338121375 | CAMTA1 | c.833G>T (p.Cys278Phe) c.*684G>T (n.*684G>T) c.743G>T (p.Cys248Phe) c.761G>T (p.Cys254Phe) c.*602G>T (n.*602G>T) c.821G>T (p.Cys274Phe) | gnomAD v4 |
1 | g.7663381T>A | CA566308 | CAMTA1 | c.834T>A (p.Cys278Ter) c.*685T>A (n.*685T>A) c.744T>A (p.Cys248Ter) c.762T>A (p.Cys254Ter) c.*603T>A (n.*603T>A) c.822T>A (p.Cys274Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663381T>C | CA416026338 | CAMTA1 | c.834T>C (p.Cys278=) c.*685T>C (n.*685T>C) c.744T>C (p.Cys248=) c.762T>C (p.Cys254=) c.*603T>C (n.*603T>C) c.822T>C (p.Cys274=) | |
1 | g.7663381T>G | CA338121384 | CAMTA1 | c.834T>G (p.Cys278Trp) c.*685T>G (n.*685T>G) c.744T>G (p.Cys248Trp) c.762T>G (p.Cys254Trp) c.*603T>G (n.*603T>G) c.822T>G (p.Cys274Trp) | |
1 | g.7663381T= | CA1152023594 | CAMTA1 | c.834T= (p.Cys278=) c.*685T= (n.*685T=) c.744T= (p.Cys248=) c.762T= (p.Cys254=) c.*603T= (n.*603T=) c.822T= (p.Cys274=) | |
1 | g.7663382A>C | CA338121387 | CAMTA1 | c.835A>C (p.Asn279His) c.*686A>C (n.*686A>C) c.745A>C (p.Asn249His) c.763A>C (p.Asn255His) c.*604A>C (n.*604A>C) c.823A>C (p.Asn275His) | |
1 | g.7663382A>G | CA338121388 | CAMTA1 | c.835A>G (p.Asn279Asp) c.*686A>G (n.*686A>G) c.745A>G (p.Asn249Asp) c.763A>G (p.Asn255Asp) c.*604A>G (n.*604A>G) c.823A>G (p.Asn275Asp) | |
1 | g.7663382A>T | CA338121404 | CAMTA1 | c.835A>T (p.Asn279Tyr) c.*686A>T (n.*686A>T) c.745A>T (p.Asn249Tyr) c.763A>T (p.Asn255Tyr) c.*604A>T (n.*604A>T) c.823A>T (p.Asn275Tyr) | |
1 | g.7663383A>C | CA338121409 | CAMTA1 | c.836A>C (p.Asn279Thr) c.*687A>C (n.*687A>C) c.746A>C (p.Asn249Thr) c.764A>C (p.Asn255Thr) c.*605A>C (n.*605A>C) c.824A>C (p.Asn275Thr) | |
1 | g.7663383A>G | CA338121410 | CAMTA1 | c.836A>G (p.Asn279Ser) c.*687A>G (n.*687A>G) c.746A>G (p.Asn249Ser) c.764A>G (p.Asn255Ser) c.*605A>G (n.*605A>G) c.824A>G (p.Asn275Ser) | gnomAD v4 |
1 | g.7663383A>T | CA338121413 | CAMTA1 | c.836A>T (p.Asn279Ile) c.*687A>T (n.*687A>T) c.746A>T (p.Asn249Ile) c.764A>T (p.Asn255Ile) c.*605A>T (n.*605A>T) c.824A>T (p.Asn275Ile) | |
1 | g.7663384C>A | CA338121416 | CAMTA1 | c.837C>A (p.Asn279Lys) c.*688C>A (n.*688C>A) c.747C>A (p.Asn249Lys) c.765C>A (p.Asn255Lys) c.*606C>A (n.*606C>A) c.825C>A (p.Asn275Lys) | gnomAD v4 |
1 | g.7663384C>G | CA338121419 | CAMTA1 | c.837C>G (p.Asn279Lys) c.*688C>G (n.*688C>G) c.747C>G (p.Asn249Lys) c.765C>G (p.Asn255Lys) c.*606C>G (n.*606C>G) c.825C>G (p.Asn275Lys) | |
1 | g.7663384C>T | CA416026339 | CAMTA1 | c.837C>T (p.Asn279=) c.*688C>T (n.*688C>T) c.747C>T (p.Asn249=) c.765C>T (p.Asn255=) c.*606C>T (n.*606C>T) c.825C>T (p.Asn275=) | |
1 | g.7663384_7663385delinsCA | CA1152023595 | CAMTA1 | c.837_838delinsCA (p.Asn279=) c.*688_*689delinsCA (n.*688_*689delinsCA) c.747_748delinsCA (p.Asn249=) c.765_766delinsCA (p.Asn255=) c.*606_*607delinsCA (n.*606_*607delinsCA) c.825_826delinsCA (p.Asn275=) | |
1 | g.7663385del | CA16617187 | CAMTA1 | c.838del (p.Ser280AlafsTer?) c.*689del (n.*689del) c.748del (p.Ser250AlafsTer?) c.766del (p.Ser256AlafsTer?) c.*607del (n.*607del) c.826del (p.Ser276AlafsTer?) | ClinVar dbSNP |
1 | g.7663385A= | CA1152023596 | CAMTA1 | c.838A= (p.Ser280=) c.*689A= (n.*689A=) c.748A= (p.Ser250=) c.766A= (p.Ser256=) c.*607A= (n.*607A=) c.826A= (p.Ser276=) | |
1 | g.7663385A>C | CA338121423 | CAMTA1 | c.838A>C (p.Ser280Arg) c.*689A>C (n.*689A>C) c.748A>C (p.Ser250Arg) c.766A>C (p.Ser256Arg) c.*607A>C (n.*607A>C) c.826A>C (p.Ser276Arg) | |
1 | g.7663385A>G | CA17243760 | CAMTA1 | c.838A>G (p.Ser280Gly) c.*689A>G (n.*689A>G) c.748A>G (p.Ser250Gly) c.766A>G (p.Ser256Gly) c.*607A>G (n.*607A>G) c.826A>G (p.Ser276Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663385A>T | CA338121438 | CAMTA1 | c.838A>T (p.Ser280Cys) c.*689A>T (n.*689A>T) c.748A>T (p.Ser250Cys) c.766A>T (p.Ser256Cys) c.*607A>T (n.*607A>T) c.826A>T (p.Ser276Cys) | |
1 | g.7663386G>A | CA338121440 | CAMTA1 | c.839G>A (p.Ser280Asn) c.*690G>A (n.*690G>A) c.749G>A (p.Ser250Asn) c.767G>A (p.Ser256Asn) c.*608G>A (n.*608G>A) c.827G>A (p.Ser276Asn) | gnomAD v4 COSMIC |
1 | g.7663386G>C | CA338121442 | CAMTA1 | c.839G>C (p.Ser280Thr) c.*690G>C (n.*690G>C) c.749G>C (p.Ser250Thr) c.767G>C (p.Ser256Thr) c.*608G>C (n.*608G>C) c.827G>C (p.Ser276Thr) | |
1 | g.7663386G>T | CA338121441 | CAMTA1 | c.839G>T (p.Ser280Ile) c.*690G>T (n.*690G>T) c.749G>T (p.Ser250Ile) c.767G>T (p.Ser256Ile) c.*608G>T (n.*608G>T) c.827G>T (p.Ser276Ile) | |
1 | g.7663387C>A | CA338121443 | CAMTA1 | c.840C>A (p.Ser280Arg) c.*691C>A (n.*691C>A) c.750C>A (p.Ser250Arg) c.768C>A (p.Ser256Arg) c.*609C>A (n.*609C>A) c.828C>A (p.Ser276Arg) | |
1 | g.7663387C= | CA1152023597 | CAMTA1 | c.840C= (p.Ser280=) c.*691C= (n.*691C=) c.750C= (p.Ser250=) c.768C= (p.Ser256=) c.*609C= (n.*609C=) c.828C= (p.Ser276=) | |
1 | g.7663387C>G | CA338121444 | CAMTA1 | c.840C>G (p.Ser280Arg) c.*691C>G (n.*691C>G) c.750C>G (p.Ser250Arg) c.768C>G (p.Ser256Arg) c.*609C>G (n.*609C>G) c.828C>G (p.Ser276Arg) | |
1 | g.7663387C>T | CA17243766 | CAMTA1 | c.840C>T (p.Ser280=) c.*691C>T (n.*691C>T) c.750C>T (p.Ser250=) c.768C>T (p.Ser256=) c.*609C>T (n.*609C>T) c.828C>T (p.Ser276=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663388G>A | CA566309 | CAMTA1 | c.841G>A (p.Ala281Thr) c.*692G>A (n.*692G>A) c.751G>A (p.Ala251Thr) c.769G>A (p.Ala257Thr) c.*610G>A (n.*610G>A) c.829G>A (p.Ala277Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663388G>C | CA338121450 | CAMTA1 | c.841G>C (p.Ala281Pro) c.*692G>C (n.*692G>C) c.751G>C (p.Ala251Pro) c.769G>C (p.Ala257Pro) c.*610G>C (n.*610G>C) c.829G>C (p.Ala277Pro) | |
1 | g.7663388G= | CA1148076711 | CAMTA1 | c.841G= (p.Ala281=) c.*692G= (n.*692G=) c.751G= (p.Ala251=) c.769G= (p.Ala257=) c.*610G= (n.*610G=) c.829G= (p.Ala277=) | |
1 | g.7663388G>T | CA338121451 | CAMTA1 | c.841G>T (p.Ala281Ser) c.*692G>T (n.*692G>T) c.751G>T (p.Ala251Ser) c.769G>T (p.Ala257Ser) c.*610G>T (n.*610G>T) c.829G>T (p.Ala277Ser) | gnomAD v4 |
1 | g.7663389C>A | CA338121454 | CAMTA1 | c.842C>A (p.Ala281Asp) c.*693C>A (n.*693C>A) c.752C>A (p.Ala251Asp) c.770C>A (p.Ala257Asp) c.*611C>A (n.*611C>A) c.830C>A (p.Ala277Asp) | |
1 | g.7663389C= | CA1152023598 | CAMTA1 | c.842C= (p.Ala281=) c.*693C= (n.*693C=) c.752C= (p.Ala251=) c.770C= (p.Ala257=) c.*611C= (n.*611C=) c.830C= (p.Ala277=) | |
1 | g.7663389C>G | CA338121456 | CAMTA1 | c.842C>G (p.Ala281Gly) c.*693C>G (n.*693C>G) c.752C>G (p.Ala251Gly) c.770C>G (p.Ala257Gly) c.*611C>G (n.*611C>G) c.830C>G (p.Ala277Gly) | |
1 | g.7663389C>T | CA338121459 | CAMTA1 | c.842C>T (p.Ala281Val) c.*693C>T (n.*693C>T) c.752C>T (p.Ala251Val) c.770C>T (p.Ala257Val) c.*611C>T (n.*611C>T) c.830C>T (p.Ala277Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663390C>A | CA416026340 | CAMTA1 | c.843C>A (p.Ala281=) c.*694C>A (n.*694C>A) c.753C>A (p.Ala251=) c.771C>A (p.Ala257=) c.*612C>A (n.*612C>A) c.831C>A (p.Ala277=) | |
1 | g.7663390C>G | CA416026341 | CAMTA1 | c.843C>G (p.Ala281=) c.*694C>G (n.*694C>G) c.753C>G (p.Ala251=) c.771C>G (p.Ala257=) c.*612C>G (n.*612C>G) c.831C>G (p.Ala277=) | |
1 | g.7663390C>T | CA416026342 | CAMTA1 | c.843C>T (p.Ala281=) c.*694C>T (n.*694C>T) c.753C>T (p.Ala251=) c.771C>T (p.Ala257=) c.*612C>T (n.*612C>T) c.831C>T (p.Ala277=) | |
1 | g.7663391A>C | CA338121462 | CAMTA1 | c.844A>C (p.Lys282Gln) c.*695A>C (n.*695A>C) c.754A>C (p.Lys252Gln) c.772A>C (p.Lys258Gln) c.*613A>C (n.*613A>C) c.832A>C (p.Lys278Gln) | |
1 | g.7663391A>G | CA338121465 | CAMTA1 | c.844A>G (p.Lys282Glu) c.*695A>G (n.*695A>G) c.754A>G (p.Lys252Glu) c.772A>G (p.Lys258Glu) c.*613A>G (n.*613A>G) c.832A>G (p.Lys278Glu) | |
1 | g.7663391A>T | CA338121476 | CAMTA1 | c.844A>T (p.Lys282Ter) c.*695A>T (n.*695A>T) c.754A>T (p.Lys252Ter) c.772A>T (p.Lys258Ter) c.*613A>T (n.*613A>T) c.832A>T (p.Lys278Ter) | |
1 | g.7663392A>C | CA338121492 | CAMTA1 | c.845A>C (p.Lys282Thr) c.*696A>C (n.*696A>C) c.755A>C (p.Lys252Thr) c.773A>C (p.Lys258Thr) c.*614A>C (n.*614A>C) c.833A>C (p.Lys278Thr) | |
1 | g.7663392A>G | CA338121489 | CAMTA1 | c.845A>G (p.Lys282Arg) c.*696A>G (n.*696A>G) c.755A>G (p.Lys252Arg) c.773A>G (p.Lys258Arg) c.*614A>G (n.*614A>G) c.833A>G (p.Lys278Arg) | |
1 | g.7663392A>T | CA338121479 | CAMTA1 | c.845A>T (p.Lys282Ile) c.*696A>T (n.*696A>T) c.755A>T (p.Lys252Ile) c.773A>T (p.Lys258Ile) c.*614A>T (n.*614A>T) c.833A>T (p.Lys278Ile) | |
1 | g.7663393A>C | CA338121496 | CAMTA1 | c.846A>C (p.Lys282Asn) c.*697A>C (n.*697A>C) c.756A>C (p.Lys252Asn) c.774A>C (p.Lys258Asn) c.*615A>C (n.*615A>C) c.834A>C (p.Lys278Asn) | |
1 | g.7663393A>G | CA416026343 | CAMTA1 | c.846A>G (p.Lys282=) c.*697A>G (n.*697A>G) c.756A>G (p.Lys252=) c.774A>G (p.Lys258=) c.*615A>G (n.*615A>G) c.834A>G (p.Lys278=) | |
1 | g.7663393A>T | CA338121495 | CAMTA1 | c.846A>T (p.Lys282Asn) c.*697A>T (n.*697A>T) c.756A>T (p.Lys252Asn) c.774A>T (p.Lys258Asn) c.*615A>T (n.*615A>T) c.834A>T (p.Lys278Asn) | |
1 | g.7663394C>A | CA338121499 | CAMTA1 | c.847C>A (p.His283Asn) c.*698C>A (n.*698C>A) c.757C>A (p.His253Asn) c.775C>A (p.His259Asn) c.*616C>A (n.*616C>A) c.835C>A (p.His279Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663394C= | CA1152023599 | CAMTA1 | c.847C= (p.His283=) c.*698C= (n.*698C=) c.757C= (p.His253=) c.775C= (p.His259=) c.*616C= (n.*616C=) c.835C= (p.His279=) | |
1 | g.7663394C>G | CA338121503 | CAMTA1 | c.847C>G (p.His283Asp) c.*698C>G (n.*698C>G) c.757C>G (p.His253Asp) c.775C>G (p.His259Asp) c.*616C>G (n.*616C>G) c.835C>G (p.His279Asp) | |
1 | g.7663394C>T | CA338121505 | CAMTA1 | c.847C>T (p.His283Tyr) c.*698C>T (n.*698C>T) c.757C>T (p.His253Tyr) c.775C>T (p.His259Tyr) c.*616C>T (n.*616C>T) c.835C>T (p.His279Tyr) | gnomAD v4 |
1 | g.7663395A>C | CA338121513 | CAMTA1 | c.848A>C (p.His283Pro) c.*699A>C (n.*699A>C) c.758A>C (p.His253Pro) c.776A>C (p.His259Pro) c.*617A>C (n.*617A>C) c.836A>C (p.His279Pro) | |
1 | g.7663395A>G | CA338121515 | CAMTA1 | c.848A>G (p.His283Arg) c.*699A>G (n.*699A>G) c.758A>G (p.His253Arg) c.776A>G (p.His259Arg) c.*617A>G (n.*617A>G) c.836A>G (p.His279Arg) | |
1 | g.7663395A>T | CA338121518 | CAMTA1 | c.848A>T (p.His283Leu) c.*699A>T (n.*699A>T) c.758A>T (p.His253Leu) c.776A>T (p.His259Leu) c.*617A>T (n.*617A>T) c.836A>T (p.His279Leu) | |
1 | g.7663396C>A | CA338121521 | CAMTA1 | c.849C>A (p.His283Gln) c.*700C>A (n.*700C>A) c.759C>A (p.His253Gln) c.777C>A (p.His259Gln) c.*618C>A (n.*618C>A) c.837C>A (p.His279Gln) | gnomAD v4 |
1 | g.7663396C>G | CA338121523 | CAMTA1 | c.849C>G (p.His283Gln) c.*700C>G (n.*700C>G) c.759C>G (p.His253Gln) c.777C>G (p.His259Gln) c.*618C>G (n.*618C>G) c.837C>G (p.His279Gln) | |
1 | g.7663396C>T | CA416026344 | CAMTA1 | c.849C>T (p.His283=) c.*700C>T (n.*700C>T) c.759C>T (p.His253=) c.777C>T (p.His259=) c.*618C>T (n.*618C>T) c.837C>T (p.His279=) | |
1 | g.7663397C>A | CA338121526 | CAMTA1 | c.850C>A (p.Arg284Ser) c.*701C>A (n.*701C>A) c.760C>A (p.Arg254Ser) c.778C>A (p.Arg260Ser) c.*619C>A (n.*619C>A) c.838C>A (p.Arg280Ser) | gnomAD v4 |
1 | g.7663397C= | CA1152023600 | CAMTA1 | c.850C= (p.Arg284=) c.*701C= (n.*701C=) c.760C= (p.Arg254=) c.778C= (p.Arg260=) c.*619C= (n.*619C=) c.838C= (p.Arg280=) | |
1 | g.7663397C>G | CA338121528 | CAMTA1 | c.850C>G (p.Arg284Gly) c.*701C>G (n.*701C>G) c.760C>G (p.Arg254Gly) c.778C>G (p.Arg260Gly) c.*619C>G (n.*619C>G) c.838C>G (p.Arg280Gly) | dbSNP gnomAD v4 |
1 | g.7663397C>T | CA338121530 | CAMTA1 | c.850C>T (p.Arg284Cys) c.*701C>T (n.*701C>T) c.760C>T (p.Arg254Cys) c.778C>T (p.Arg260Cys) c.*619C>T (n.*619C>T) c.838C>T (p.Arg280Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663398G>A | CA566311 | CAMTA1 | c.851G>A (p.Arg284His) c.*702G>A (n.*702G>A) c.761G>A (p.Arg254His) c.779G>A (p.Arg260His) c.*620G>A (n.*620G>A) c.839G>A (p.Arg280His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663398G>C | CA338121536 | CAMTA1 | c.851G>C (p.Arg284Pro) c.*702G>C (n.*702G>C) c.761G>C (p.Arg254Pro) c.779G>C (p.Arg260Pro) c.*620G>C (n.*620G>C) c.839G>C (p.Arg280Pro) | |
1 | g.7663398G= | CA1152023601 | CAMTA1 | c.851G= (p.Arg284=) c.*702G= (n.*702G=) c.761G= (p.Arg254=) c.779G= (p.Arg260=) c.*620G= (n.*620G=) c.839G= (p.Arg280=) | |
1 | g.7663398G>T | CA566310 | CAMTA1 | c.851G>T (p.Arg284Leu) c.*702G>T (n.*702G>T) c.761G>T (p.Arg254Leu) c.779G>T (p.Arg260Leu) c.*620G>T (n.*620G>T) c.839G>T (p.Arg280Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663399C>A | CA416026347 | CAMTA1 | c.852C>A (p.Arg284=) c.*703C>A (n.*703C>A) c.762C>A (p.Arg254=) c.780C>A (p.Arg260=) c.*621C>A (n.*621C>A) c.840C>A (p.Arg280=) | |
1 | g.7663399C>G | CA416026346 | CAMTA1 | c.852C>G (p.Arg284=) c.*703C>G (n.*703C>G) c.762C>G (p.Arg254=) c.780C>G (p.Arg260=) c.*621C>G (n.*621C>G) c.840C>G (p.Arg280=) | |
1 | g.7663399C>T | CA416026345 | CAMTA1 | c.852C>T (p.Arg284=) c.*703C>T (n.*703C>T) c.762C>T (p.Arg254=) c.780C>T (p.Arg260=) c.*621C>T (n.*621C>T) c.840C>T (p.Arg280=) | COSMIC |
1 | g.7663400A>C | CA338121538 | CAMTA1 | c.853A>C (p.Ile285Leu) c.*704A>C (n.*704A>C) c.763A>C (p.Ile255Leu) c.781A>C (p.Ile261Leu) c.*622A>C (n.*622A>C) c.841A>C (p.Ile281Leu) | |
1 | g.7663400A>G | CA338121539 | CAMTA1 | c.853A>G (p.Ile285Val) c.*704A>G (n.*704A>G) c.763A>G (p.Ile255Val) c.781A>G (p.Ile261Val) c.*622A>G (n.*622A>G) c.841A>G (p.Ile281Val) | |
1 | g.7663400A>T | CA338121541 | CAMTA1 | c.853A>T (p.Ile285Phe) c.*704A>T (n.*704A>T) c.763A>T (p.Ile255Phe) c.781A>T (p.Ile261Phe) c.*622A>T (n.*622A>T) c.841A>T (p.Ile281Phe) | |
1 | g.7663401T>A | CA338121545 | CAMTA1 | c.854T>A (p.Ile285Asn) c.*705T>A (n.*705T>A) c.764T>A (p.Ile255Asn) c.782T>A (p.Ile261Asn) c.*623T>A (n.*623T>A) c.842T>A (p.Ile281Asn) | |
1 | g.7663401T>C | CA338121547 | CAMTA1 | c.854T>C (p.Ile285Thr) c.*705T>C (n.*705T>C) c.764T>C (p.Ile255Thr) c.782T>C (p.Ile261Thr) c.*623T>C (n.*623T>C) c.842T>C (p.Ile281Thr) | |
1 | g.7663401T>G | CA338121555 | CAMTA1 | c.854T>G (p.Ile285Ser) c.*705T>G (n.*705T>G) c.764T>G (p.Ile255Ser) c.782T>G (p.Ile261Ser) c.*623T>G (n.*623T>G) c.842T>G (p.Ile281Ser) | |
1 | g.7663402C>A | CA416026348 | CAMTA1 | c.855C>A (p.Ile285=) c.*706C>A (n.*706C>A) c.765C>A (p.Ile255=) c.783C>A (p.Ile261=) c.*624C>A (n.*624C>A) c.843C>A (p.Ile281=) | |
1 | g.7663402C>G | CA338121558 | CAMTA1 | c.855C>G (p.Ile285Met) c.*706C>G (n.*706C>G) c.765C>G (p.Ile255Met) c.783C>G (p.Ile261Met) c.*624C>G (n.*624C>G) c.843C>G (p.Ile281Met) | |
1 | g.7663402C>T | CA416026349 | CAMTA1 | c.855C>T (p.Ile285=) c.*706C>T (n.*706C>T) c.765C>T (p.Ile255=) c.783C>T (p.Ile261=) c.*624C>T (n.*624C>T) c.843C>T (p.Ile281=) | |
1 | g.7663403A>C | CA338121561 | CAMTA1 | c.856A>C (p.Ile286Leu) c.*707A>C (n.*707A>C) c.766A>C (p.Ile256Leu) c.784A>C (p.Ile262Leu) c.*625A>C (n.*625A>C) c.844A>C (p.Ile282Leu) | |
1 | g.7663403A>G | CA338121562 | CAMTA1 | c.856A>G (p.Ile286Val) c.*707A>G (n.*707A>G) c.766A>G (p.Ile256Val) c.784A>G (p.Ile262Val) c.*625A>G (n.*625A>G) c.844A>G (p.Ile282Val) | |
1 | g.7663403A>T | CA338121563 | CAMTA1 | c.856A>T (p.Ile286Phe) c.*707A>T (n.*707A>T) c.766A>T (p.Ile256Phe) c.784A>T (p.Ile262Phe) c.*625A>T (n.*625A>T) c.844A>T (p.Ile282Phe) | |
1 | g.7663404T>A | CA338121564 | CAMTA1 | c.857T>A (p.Ile286Asn) c.*708T>A (n.*708T>A) c.767T>A (p.Ile256Asn) c.785T>A (p.Ile262Asn) c.*626T>A (n.*626T>A) c.845T>A (p.Ile282Asn) | gnomAD v4 |
1 | g.7663404T>C | CA338121565 | CAMTA1 | c.857T>C (p.Ile286Thr) c.*708T>C (n.*708T>C) c.767T>C (p.Ile256Thr) c.785T>C (p.Ile262Thr) c.*626T>C (n.*626T>C) c.845T>C (p.Ile282Thr) | gnomAD v4 |
1 | g.7663404T>G | CA338121568 | CAMTA1 | c.857T>G (p.Ile286Ser) c.*708T>G (n.*708T>G) c.767T>G (p.Ile256Ser) c.785T>G (p.Ile262Ser) c.*626T>G (n.*626T>G) c.845T>G (p.Ile282Ser) | |
1 | g.7663405C>A | CA416026350 | CAMTA1 | c.858C>A (p.Ile286=) c.*709C>A (n.*709C>A) c.768C>A (p.Ile256=) c.786C>A (p.Ile262=) c.*627C>A (n.*627C>A) c.846C>A (p.Ile282=) | gnomAD v4 COSMIC |
1 | g.7663405C>G | CA338121569 | CAMTA1 | c.858C>G (p.Ile286Met) c.*709C>G (n.*709C>G) c.768C>G (p.Ile256Met) c.786C>G (p.Ile262Met) c.*627C>G (n.*627C>G) c.846C>G (p.Ile282Met) | |
1 | g.7663405C>T | CA416026351 | CAMTA1 | c.858C>T (p.Ile286=) c.*709C>T (n.*709C>T) c.768C>T (p.Ile256=) c.786C>T (p.Ile262=) c.*627C>T (n.*627C>T) c.846C>T (p.Ile282=) | COSMIC |
1 | g.7663406T>A | CA338121573 | CAMTA1 | c.859T>A (p.Ser287Thr) c.*710T>A (n.*710T>A) c.769T>A (p.Ser257Thr) c.787T>A (p.Ser263Thr) c.*628T>A (n.*628T>A) c.847T>A (p.Ser283Thr) | |
1 | g.7663406T>C | CA338121577 | CAMTA1 | c.859T>C (p.Ser287Pro) c.*710T>C (n.*710T>C) c.769T>C (p.Ser257Pro) c.787T>C (p.Ser263Pro) c.*628T>C (n.*628T>C) c.847T>C (p.Ser283Pro) | gnomAD v4 |
1 | g.7663406T>G | CA338121571 | CAMTA1 | c.859T>G (p.Ser287Ala) c.*710T>G (n.*710T>G) c.769T>G (p.Ser257Ala) c.787T>G (p.Ser263Ala) c.*628T>G (n.*628T>G) c.847T>G (p.Ser283Ala) | |
1 | g.7663407C>A | CA338121579 | CAMTA1 | c.860C>A (p.Ser287Ter) c.*711C>A (n.*711C>A) c.770C>A (p.Ser257Ter) c.788C>A (p.Ser263Ter) c.*629C>A (n.*629C>A) c.848C>A (p.Ser283Ter) | |
1 | g.7663407C= | CA1152023602 | CAMTA1 | c.860C= (p.Ser287=) c.*711C= (n.*711C=) c.770C= (p.Ser257=) c.788C= (p.Ser263=) c.*629C= (n.*629C=) c.848C= (p.Ser283=) | |
1 | g.7663407C>G | CA338121585 | CAMTA1 | c.860C>G (p.Ser287Trp) c.*711C>G (n.*711C>G) c.770C>G (p.Ser257Trp) c.788C>G (p.Ser263Trp) c.*629C>G (n.*629C>G) c.848C>G (p.Ser283Trp) | COSMIC COSMIC |
1 | g.7663407C>T | CA338121582 | CAMTA1 | c.860C>T (p.Ser287Leu) c.*711C>T (n.*711C>T) c.770C>T (p.Ser257Leu) c.788C>T (p.Ser263Leu) c.*629C>T (n.*629C>T) c.848C>T (p.Ser283Leu) | dbSNP gnomAD v4 COSMIC |
1 | g.7663408G>A | CA566312 | CAMTA1 | c.861G>A (p.Ser287=) c.*712G>A (n.*712G>A) c.771G>A (p.Ser257=) c.789G>A (p.Ser263=) c.*630G>A (n.*630G>A) c.849G>A (p.Ser283=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663408G>C | CA416026352 | CAMTA1 | c.861G>C (p.Ser287=) c.*712G>C (n.*712G>C) c.771G>C (p.Ser257=) c.789G>C (p.Ser263=) c.*630G>C (n.*630G>C) c.849G>C (p.Ser283=) | dbSNP |
1 | g.7663408G= | CA1152023603 | CAMTA1 | c.861G= (p.Ser287=) c.*712G= (n.*712G=) c.771G= (p.Ser257=) c.789G= (p.Ser263=) c.*630G= (n.*630G=) c.849G= (p.Ser283=) | |
1 | g.7663408G>T | CA416026353 | CAMTA1 | c.861G>T (p.Ser287=) c.*712G>T (n.*712G>T) c.771G>T (p.Ser257=) c.789G>T (p.Ser263=) c.*630G>T (n.*630G>T) c.849G>T (p.Ser283=) | gnomAD v4 |
1 | g.7663409C>A | CA338121590 | CAMTA1 | c.862C>A (p.Pro288Thr) c.*713C>A (n.*713C>A) c.772C>A (p.Pro258Thr) c.790C>A (p.Pro264Thr) c.*631C>A (n.*631C>A) c.850C>A (p.Pro284Thr) | gnomAD v4 |
1 | g.7663409C>G | CA338121593 | CAMTA1 | c.862C>G (p.Pro288Ala) c.*713C>G (n.*713C>G) c.772C>G (p.Pro258Ala) c.790C>G (p.Pro264Ala) c.*631C>G (n.*631C>G) c.850C>G (p.Pro284Ala) | |
1 | g.7663409C>T | CA338121602 | CAMTA1 | c.862C>T (p.Pro288Ser) c.*713C>T (n.*713C>T) c.772C>T (p.Pro258Ser) c.790C>T (p.Pro264Ser) c.*631C>T (n.*631C>T) c.850C>T (p.Pro284Ser) | |
1 | g.7663410C>A | CA338121606 | CAMTA1 | c.863C>A (p.Pro288His) c.*714C>A (n.*714C>A) c.773C>A (p.Pro258His) c.791C>A (p.Pro264His) c.*632C>A (n.*632C>A) c.851C>A (p.Pro284His) | gnomAD v4 |
1 | g.7663410C>G | CA338121614 | CAMTA1 | c.863C>G (p.Pro288Arg) c.*714C>G (n.*714C>G) c.773C>G (p.Pro258Arg) c.791C>G (p.Pro264Arg) c.*632C>G (n.*632C>G) c.851C>G (p.Pro284Arg) | |
1 | g.7663410C>T | CA338121615 | CAMTA1 | c.863C>T (p.Pro288Leu) c.*714C>T (n.*714C>T) c.773C>T (p.Pro258Leu) c.791C>T (p.Pro264Leu) c.*632C>T (n.*632C>T) c.851C>T (p.Pro284Leu) | |
1 | g.7663411C>A | CA416026354 | CAMTA1 | c.864C>A (p.Pro288=) c.*715C>A (n.*715C>A) c.774C>A (p.Pro258=) c.792C>A (p.Pro264=) c.*633C>A (n.*633C>A) c.852C>A (p.Pro284=) | |
1 | g.7663411C= | CA1152023604 | CAMTA1 | c.864C= (p.Pro288=) c.*715C= (n.*715C=) c.774C= (p.Pro258=) c.792C= (p.Pro264=) c.*633C= (n.*633C=) c.852C= (p.Pro284=) | |
1 | g.7663411C>G | CA416026355 | CAMTA1 | c.864C>G (p.Pro288=) c.*715C>G (n.*715C>G) c.774C>G (p.Pro258=) c.792C>G (p.Pro264=) c.*633C>G (n.*633C>G) c.852C>G (p.Pro284=) | |
1 | g.7663411C>T | CA416026356 | CAMTA1 | c.864C>T (p.Pro288=) c.*715C>T (n.*715C>T) c.774C>T (p.Pro258=) c.792C>T (p.Pro264=) c.*633C>T (n.*633C>T) c.852C>T (p.Pro284=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663412A>C | CA338121616 | CAMTA1 | c.865A>C (p.Lys289Gln) c.*716A>C (n.*716A>C) c.775A>C (p.Lys259Gln) c.793A>C (p.Lys265Gln) c.*634A>C (n.*634A>C) c.853A>C (p.Lys285Gln) | |
1 | g.7663412A>G | CA338121617 | CAMTA1 | c.865A>G (p.Lys289Glu) c.*716A>G (n.*716A>G) c.775A>G (p.Lys259Glu) c.793A>G (p.Lys265Glu) c.*634A>G (n.*634A>G) c.853A>G (p.Lys285Glu) | |
1 | g.7663412A>T | CA338121618 | CAMTA1 | c.865A>T (p.Lys289Ter) c.*716A>T (n.*716A>T) c.775A>T (p.Lys259Ter) c.793A>T (p.Lys265Ter) c.*634A>T (n.*634A>T) c.853A>T (p.Lys285Ter) | |
1 | g.7663413del | CA2643031703 | CAMTA1 | c.866del (p.Lys289ArgfsTer?) c.*717del (n.*717del) c.776del (p.Lys259ArgfsTer?) c.794del (p.Lys265ArgfsTer?) c.*635del (n.*635del) c.854del (p.Lys285ArgfsTer?) | gnomAD v4 |
1 | g.7663413A>C | CA338121625 | CAMTA1 | c.866A>C (p.Lys289Thr) c.*717A>C (n.*717A>C) c.776A>C (p.Lys259Thr) c.794A>C (p.Lys265Thr) c.*635A>C (n.*635A>C) c.854A>C (p.Lys285Thr) | |
1 | g.7663413A>G | CA338121623 | CAMTA1 | c.866A>G (p.Lys289Arg) c.*717A>G (n.*717A>G) c.776A>G (p.Lys259Arg) c.794A>G (p.Lys265Arg) c.*635A>G (n.*635A>G) c.854A>G (p.Lys285Arg) | |
1 | g.7663413A>T | CA338121621 | CAMTA1 | c.866A>T (p.Lys289Met) c.*717A>T (n.*717A>T) c.776A>T (p.Lys259Met) c.794A>T (p.Lys265Met) c.*635A>T (n.*635A>T) c.854A>T (p.Lys285Met) |