| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101362718T>A | CA374254508 | BAAT | c.967A>T (p.Ile323Phe) c.762+205A>T (n.762+205A>T) c.804+163A>T (n.804+163A>T) | |
| 9 | g.101362718T>C | CA341872 | BAAT | c.967A>G (p.Ile323Val) c.762+205A>G (n.762+205A>G) c.804+163A>G (n.804+163A>G) | ClinVar dbSNP |
| 9 | g.101362718T>G | CA374254509 | BAAT | c.967A>C (p.Ile323Leu) c.762+205A>C (n.762+205A>C) c.804+163A>C (n.804+163A>C) | |
| 9 | g.101362718T= | CA1868206547 | BAAT | c.967A= (p.Ile323=) c.762+205A= (n.762+205A=) c.804+163A= (n.804+163A=) | |
| 9 | g.101362719G>A | CA196948509 | BAAT | c.966C>T (p.Phe322=) c.762+204C>T (n.762+204C>T) c.804+162C>T (n.804+162C>T) | dbSNP gnomAD v4 COSMIC |
| 9 | g.101362719G>C | CA374254511 | BAAT | c.966C>G (p.Phe322Leu) c.762+204C>G (n.762+204C>G) c.804+162C>G (n.804+162C>G) | |
| 9 | g.101362719G= | CA1868206550 | BAAT | c.966C= (p.Phe322=) c.762+204C= (n.762+204C=) c.804+162C= (n.804+162C=) | |
| 9 | g.101362719G>T | CA374254510 | BAAT | c.966C>A (p.Phe322Leu) c.762+204C>A (n.762+204C>A) c.804+162C>A (n.804+162C>A) | |
| 9 | g.101362720A>C | CA374254512 | BAAT | c.965T>G (p.Phe322Cys) c.762+203T>G (n.762+203T>G) c.804+161T>G (n.804+161T>G) | |
| 9 | g.101362720A>G | CA374254513 | BAAT | c.965T>C (p.Phe322Ser) c.762+203T>C (n.762+203T>C) c.804+161T>C (n.804+161T>C) | |
| 9 | g.101362720A>T | CA374254514 | BAAT | c.965T>A (p.Phe322Tyr) c.762+203T>A (n.762+203T>A) c.804+161T>A (n.804+161T>A) | |
| 9 | g.101362721A= | CA1868206552 | BAAT | c.964T= (p.Phe322=) c.762+202T= (n.762+202T=) c.804+160T= (n.804+160T=) | |
| 9 | g.101362721A>C | CA374254515 | BAAT | c.964T>G (p.Phe322Val) c.762+202T>G (n.762+202T>G) c.804+160T>G (n.804+160T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101362721A>G | CA374254516 | BAAT | c.964T>C (p.Phe322Leu) c.762+202T>C (n.762+202T>C) c.804+160T>C (n.804+160T>C) | |
| 9 | g.101362721A>T | CA374254517 | BAAT | c.964T>A (p.Phe322Ile) c.762+202T>A (n.762+202T>A) c.804+160T>A (n.804+160T>A) | |
| 9 | g.101362722G>A | CA466650436 | BAAT | c.963C>T (p.Leu321=) c.762+201C>T (n.762+201C>T) c.804+159C>T (n.804+159C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101362722G>C | CA466650434 | BAAT | c.963C>G (p.Leu321=) c.762+201C>G (n.762+201C>G) c.804+159C>G (n.804+159C>G) | gnomAD v4 |
| 9 | g.101362722G= | CA1868206554 | BAAT | c.963C= (p.Leu321=) c.762+201C= (n.762+201C=) c.804+159C= (n.804+159C=) | |
| 9 | g.101362722G>T | CA466650431 | BAAT | c.963C>A (p.Leu321=) c.762+201C>A (n.762+201C>A) c.804+159C>A (n.804+159C>A) | |
| 9 | g.101362723A>C | CA374254518 | BAAT | c.962T>G (p.Leu321Arg) c.762+200T>G (n.762+200T>G) c.804+158T>G (n.804+158T>G) | |
| 9 | g.101362723A>G | CA374254520 | BAAT | c.962T>C (p.Leu321Pro) c.762+200T>C (n.762+200T>C) c.804+158T>C (n.804+158T>C) | |
| 9 | g.101362723A>T | CA374254519 | BAAT | c.962T>A (p.Leu321His) c.762+200T>A (n.762+200T>A) c.804+158T>A (n.804+158T>A) | |
| 9 | g.101362724G>A | CA374254521 | BAAT | c.961C>T (p.Leu321Phe) c.762+199C>T (n.762+199C>T) c.804+157C>T (n.804+157C>T) | |
| 9 | g.101362724G>C | CA374254522 | BAAT | c.961C>G (p.Leu321Val) c.762+199C>G (n.762+199C>G) c.804+157C>G (n.804+157C>G) | |
| 9 | g.101362724G>T | CA374254523 | BAAT | c.961C>A (p.Leu321Ile) c.762+199C>A (n.762+199C>A) c.804+157C>A (n.804+157C>A) | |
| 9 | g.101362725G>A | CA466650444 | BAAT | c.960C>T (p.Phe320=) c.762+198C>T (n.762+198C>T) c.804+156C>T (n.804+156C>T) | dbSNP gnomAD v4 COSMIC |
| 9 | g.101362725G>C | CA374254524 | BAAT | c.960C>G (p.Phe320Leu) c.762+198C>G (n.762+198C>G) c.804+156C>G (n.804+156C>G) | |
| 9 | g.101362725G>T | CA374254525 | BAAT | c.960C>A (p.Phe320Leu) c.762+198C>A (n.762+198C>A) c.804+156C>A (n.804+156C>A) | |
| 9 | g.101362726A= | CA1868206558 | BAAT | c.959T= (p.Phe320=) c.762+197T= (n.762+197T=) c.804+155T= (n.804+155T=) | |
| 9 | g.101362726A>C | CA374254526 | BAAT | c.959T>G (p.Phe320Cys) c.762+197T>G (n.762+197T>G) c.804+155T>G (n.804+155T>G) | |
| 9 | g.101362726A>G | CA374254527 | BAAT | c.959T>C (p.Phe320Ser) c.762+197T>C (n.762+197T>C) c.804+155T>C (n.804+155T>C) | |
| 9 | g.101362726A>T | CA374254528 | BAAT | c.959T>A (p.Phe320Tyr) c.762+197T>A (n.762+197T>A) c.804+155T>A (n.804+155T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101362727A>C | CA374254529 | BAAT | c.958T>G (p.Phe320Val) c.762+196T>G (n.762+196T>G) c.804+154T>G (n.804+154T>G) | |
| 9 | g.101362727A>G | CA374254530 | BAAT | c.958T>C (p.Phe320Leu) c.762+196T>C (n.762+196T>C) c.804+154T>C (n.804+154T>C) | |
| 9 | g.101362727A>T | CA374254531 | BAAT | c.958T>A (p.Phe320Ile) c.762+196T>A (n.762+196T>A) c.804+154T>A (n.804+154T>A) | |
| 9 | g.101362728T>A | CA374254532 | BAAT | c.957A>T (p.Gln319His) c.762+195A>T (n.762+195A>T) c.804+153A>T (n.804+153A>T) | |
| 9 | g.101362728T>C | CA466650448 | BAAT | c.957A>G (p.Gln319=) c.762+195A>G (n.762+195A>G) c.804+153A>G (n.804+153A>G) | |
| 9 | g.101362728T>G | CA374254533 | BAAT | c.957A>C (p.Gln319His) c.762+195A>C (n.762+195A>C) c.804+153A>C (n.804+153A>C) | |
| 9 | g.101362729T>A | CA374254534 | BAAT | c.956A>T (p.Gln319Leu) c.762+194A>T (n.762+194A>T) c.804+152A>T (n.804+152A>T) | |
| 9 | g.101362729T>C | CA374254535 | BAAT | c.956A>G (p.Gln319Arg) c.762+194A>G (n.762+194A>G) c.804+152A>G (n.804+152A>G) | dbSNP gnomAD v4 |
| 9 | g.101362729T>G | CA374254536 | BAAT | c.956A>C (p.Gln319Pro) c.762+194A>C (n.762+194A>C) c.804+152A>C (n.804+152A>C) | |
| 9 | g.101362729T= | CA1868206561 | BAAT | c.956A= (p.Gln319=) c.762+194A= (n.762+194A=) c.804+152A= (n.804+152A=) | |
| 9 | g.101362730G>A | CA374254537 | BAAT | c.955C>T (p.Gln319Ter) c.762+193C>T (n.762+193C>T) c.804+151C>T (n.804+151C>T) | |
| 9 | g.101362730G>C | CA374254538 | BAAT | c.955C>G (p.Gln319Glu) c.762+193C>G (n.762+193C>G) c.804+151C>G (n.804+151C>G) | |
| 9 | g.101362730G>T | CA374254539 | BAAT | c.955C>A (p.Gln319Lys) c.762+193C>A (n.762+193C>A) c.804+151C>A (n.804+151C>A) | gnomAD v4 |
| 9 | g.101362731C>A | CA466650455 | BAAT | c.954G>T (p.Gly318=) c.762+192G>T (n.762+192G>T) c.804+150G>T (n.804+150G>T) | |
| 9 | g.101362731C= | CA1868206566 | BAAT | c.954G= (p.Gly318=) c.762+192G= (n.762+192G=) c.804+150G= (n.804+150G=) | |
| 9 | g.101362731C>G | CA466650456 | BAAT | c.954G>C (p.Gly318=) c.762+192G>C (n.762+192G>C) c.804+150G>C (n.804+150G>C) | |
| 9 | g.101362731C>T | CA466650457 | BAAT | c.954G>A (p.Gly318=) c.762+192G>A (n.762+192G>A) c.804+150G>A (n.804+150G>A) | dbSNP gnomAD v4 |
| 9 | g.101362734del | CA2691011833 | BAAT | c.954del (p.Gln319AsnfsTer6) c.762+192del (n.762+192del) c.804+150del (n.804+150del) | gnomAD v4 |