Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.151186334A>G | CA2685657444 | ASB10 | c.584+58T>C (n.584+58T>C) c.539+58T>C (n.539+58T>C) c.719+58T>C (n.719+58T>C) | gnomAD v4 |
7 | g.151186335A>G | CA2685657445 | ASB10 | c.584+57T>C (n.584+57T>C) c.539+57T>C (n.539+57T>C) c.719+57T>C (n.719+57T>C) | gnomAD v4 |
7 | g.151186335A>T | CA2685657446 | ASB10 | c.584+57T>A (n.584+57T>A) c.539+57T>A (n.539+57T>A) c.719+57T>A (n.719+57T>A) | gnomAD v4 |
7 | g.151186336G>A | CA2685657448 | ASB10 | c.584+56C>T (n.584+56C>T) c.539+56C>T (n.539+56C>T) c.719+56C>T (n.719+56C>T) | gnomAD v4 |
7 | g.151186336G>C | CA2685657449 | ASB10 | c.584+56C>G (n.584+56C>G) c.539+56C>G (n.539+56C>G) c.719+56C>G (n.719+56C>G) | gnomAD v4 |
7 | g.151186336G>T | CA2685657447 | ASB10 | c.584+56C>A (n.584+56C>A) c.539+56C>A (n.539+56C>A) c.719+56C>A (n.719+56C>A) | gnomAD v4 |
7 | g.151186337G>A | CA1752544691 | ASB10 | c.584+55C>T (n.584+55C>T) c.539+55C>T (n.539+55C>T) c.719+55C>T (n.719+55C>T) | dbSNP gnomAD v4 |
7 | g.151186337G>C | CA1752544692 | ASB10 | c.584+55C>G (n.584+55C>G) c.539+55C>G (n.539+55C>G) c.719+55C>G (n.719+55C>G) | dbSNP |
7 | g.151186337G= | CA1752544690 | ASB10 | c.584+55C= (n.584+55C=) c.539+55C= (n.539+55C=) c.719+55C= (n.719+55C=) | |
7 | g.151186338C>A | CA2685657450 | ASB10 | c.584+54G>T (n.584+54G>T) c.539+54G>T (n.539+54G>T) c.719+54G>T (n.719+54G>T) | gnomAD v4 |
7 | g.151186338C>G | CA2579066553 | ASB10 | c.584+54G>C (n.584+54G>C) c.539+54G>C (n.539+54G>C) c.719+54G>C (n.719+54G>C) | |
7 | g.151186338C>T | CA2685657451 | ASB10 | c.584+54G>A (n.584+54G>A) c.539+54G>A (n.539+54G>A) c.719+54G>A (n.719+54G>A) | gnomAD v4 |
7 | g.151186339dup | CA2579066552 | ASB10 | c.584+54dup (n.584+54dup) c.539+54dup (n.539+54dup) c.719+54dup (n.719+54dup) | |
7 | g.151186339C>A | CA2685657452 | ASB10 | c.584+53G>T (n.584+53G>T) c.539+53G>T (n.539+53G>T) c.719+53G>T (n.719+53G>T) | gnomAD v4 |
7 | g.151186340T>A | CA2685657454 | ASB10 | c.584+52A>T (n.584+52A>T) c.539+52A>T (n.539+52A>T) c.719+52A>T (n.719+52A>T) | gnomAD v4 |
7 | g.151186340T>C | CA2685657453 | ASB10 | c.584+52A>G (n.584+52A>G) c.539+52A>G (n.539+52A>G) c.719+52A>G (n.719+52A>G) | gnomAD v4 |
7 | g.151186341C>A | CA2685657455 | ASB10 | c.584+51G>T (n.584+51G>T) c.539+51G>T (n.539+51G>T) c.719+51G>T (n.719+51G>T) | gnomAD v4 |
7 | g.151186341C= | CA1752544693 | ASB10 | c.584+51G= (n.584+51G=) c.539+51G= (n.539+51G=) c.719+51G= (n.719+51G=) | |
7 | g.151186342T>C | CA2685657456 | ASB10 | c.584+50A>G (n.584+50A>G) c.539+50A>G (n.539+50A>G) c.719+50A>G (n.719+50A>G) | gnomAD v4 |
7 | g.151186344dup | CA579077198 | ASB10 | c.584+50dup (n.584+50dup) c.539+50dup (n.539+50dup) c.719+50dup (n.719+50dup) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186343T>C | CA2685657457 | ASB10 | c.584+49A>G (n.584+49A>G) c.539+49A>G (n.539+49A>G) c.719+49A>G (n.719+49A>G) | gnomAD v4 |
7 | g.151186345del | CA2685657458 | ASB10 | c.584+47del (n.584+47del) c.539+47del (n.539+47del) c.719+47del (n.719+47del) | gnomAD v4 |
7 | g.151186345G>T | CA2685657459 | ASB10 | c.584+47C>A (n.584+47C>A) c.539+47C>A (n.539+47C>A) c.719+47C>A (n.719+47C>A) | gnomAD v4 |
7 | g.151186346C>A | CA2685657460 | ASB10 | c.584+46G>T (n.584+46G>T) c.539+46G>T (n.539+46G>T) c.719+46G>T (n.719+46G>T) | gnomAD v4 |
7 | g.151186346C>G | CA2685657461 | ASB10 | c.584+46G>C (n.584+46G>C) c.539+46G>C (n.539+46G>C) c.719+46G>C (n.719+46G>C) | gnomAD v4 |
7 | g.151186346C>T | CA2685657462 | ASB10 | c.584+46G>A (n.584+46G>A) c.539+46G>A (n.539+46G>A) c.719+46G>A (n.719+46G>A) | gnomAD v4 |
7 | g.151186349C>A | CA2685657463 | ASB10 | c.584+43G>T (n.584+43G>T) c.539+43G>T (n.539+43G>T) c.719+43G>T (n.719+43G>T) | gnomAD v4 |
7 | g.151186349C= | CA1752544697 | ASB10 | c.584+43G= (n.584+43G=) c.539+43G= (n.539+43G=) c.719+43G= (n.719+43G=) | |
7 | g.151186349C>T | CA169125071 | ASB10 | c.584+43G>A (n.584+43G>A) c.539+43G>A (n.539+43G>A) c.719+43G>A (n.719+43G>A) | dbSNP gnomAD v4 |
7 | g.151186350C>A | CA2685657464 | ASB10 | c.584+42G>T (n.584+42G>T) c.539+42G>T (n.539+42G>T) c.719+42G>T (n.719+42G>T) | gnomAD v4 |
7 | g.151186350C= | CA1752544700 | ASB10 | c.584+42G= (n.584+42G=) c.539+42G= (n.539+42G=) c.719+42G= (n.719+42G=) | |
7 | g.151186350C>G | CA2685657465 | ASB10 | c.584+42G>C (n.584+42G>C) c.539+42G>C (n.539+42G>C) c.719+42G>C (n.719+42G>C) | gnomAD v4 |
7 | g.151186350C>T | CA835245696 | ASB10 | c.584+42G>A (n.584+42G>A) c.539+42G>A (n.539+42G>A) c.719+42G>A (n.719+42G>A) | dbSNP gnomAD v4 |
7 | g.151186351C>A | CA2685657466 | ASB10 | c.584+41G>T (n.584+41G>T) c.539+41G>T (n.539+41G>T) c.719+41G>T (n.719+41G>T) | gnomAD v4 |
7 | g.151186352T>A | CA2685657468 | ASB10 | c.584+40A>T (n.584+40A>T) c.539+40A>T (n.539+40A>T) c.719+40A>T (n.719+40A>T) | gnomAD v4 |
7 | g.151186352T>C | CA2685657469 | ASB10 | c.584+40A>G (n.584+40A>G) c.539+40A>G (n.539+40A>G) c.719+40A>G (n.719+40A>G) | gnomAD v4 |
7 | g.151186353del | CA2685657467 | ASB10 | c.584+40del (n.584+40del) c.539+40del (n.539+40del) c.719+40del (n.719+40del) | gnomAD v4 |
7 | g.151186353T>C | CA2685657470 | ASB10 | c.584+39A>G (n.584+39A>G) c.539+39A>G (n.539+39A>G) c.719+39A>G (n.719+39A>G) | gnomAD v4 |
7 | g.151186354C>A | CA2685657471 | ASB10 | c.584+38G>T (n.584+38G>T) c.539+38G>T (n.539+38G>T) c.719+38G>T (n.719+38G>T) | gnomAD v4 |
7 | g.151186354C= | CA1752544702 | ASB10 | c.584+38G= (n.584+38G=) c.539+38G= (n.539+38G=) c.719+38G= (n.719+38G=) | |
7 | g.151186354C>G | CA1752544703 | ASB10 | c.584+38G>C (n.584+38G>C) c.539+38G>C (n.539+38G>C) c.719+38G>C (n.719+38G>C) | dbSNP gnomAD v4 |
7 | g.151186354C>T | CA2685657472 | ASB10 | c.584+38G>A (n.584+38G>A) c.539+38G>A (n.539+38G>A) c.719+38G>A (n.719+38G>A) | gnomAD v4 |
7 | g.151186355A>T | CA2685657473 | ASB10 | c.584+37T>A (n.584+37T>A) c.539+37T>A (n.539+37T>A) c.719+37T>A (n.719+37T>A) | gnomAD v4 |
7 | g.151186356G>C | CA4573846 | ASB10 | c.584+36C>G (n.584+36C>G) c.539+36C>G (n.539+36C>G) c.719+36C>G (n.719+36C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186356G= | CA1752544704 | ASB10 | c.584+36C= (n.584+36C=) c.539+36C= (n.539+36C=) c.719+36C= (n.719+36C=) | |
7 | g.151186356G>T | CA2685657474 | ASB10 | c.584+36C>A (n.584+36C>A) c.539+36C>A (n.539+36C>A) c.719+36C>A (n.719+36C>A) | gnomAD v4 |
7 | g.151186357A>G | CA2685657475 | ASB10 | c.584+35T>C (n.584+35T>C) c.539+35T>C (n.539+35T>C) c.719+35T>C (n.719+35T>C) | gnomAD v4 |
7 | g.151186358G>A | CA2685657476 | ASB10 | c.584+34C>T (n.584+34C>T) c.539+34C>T (n.539+34C>T) c.719+34C>T (n.719+34C>T) | gnomAD v4 |
7 | g.151186358G>T | CA2685657477 | ASB10 | c.584+34C>A (n.584+34C>A) c.539+34C>A (n.539+34C>A) c.719+34C>A (n.719+34C>A) | gnomAD v4 |
7 | g.151186359T>A | CA2685657478 | ASB10 | c.584+33A>T (n.584+33A>T) c.539+33A>T (n.539+33A>T) c.719+33A>T (n.719+33A>T) | gnomAD v4 |
7 | g.151186359T>G | CA579077199 | ASB10 | c.584+33A>C (n.584+33A>C) c.539+33A>C (n.539+33A>C) c.719+33A>C (n.719+33A>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186359T= | CA1752544706 | ASB10 | c.584+33A= (n.584+33A=) c.539+33A= (n.539+33A=) c.719+33A= (n.719+33A=) | |
7 | g.151186360G>A | CA4573847 | ASB10 | c.584+32C>T (n.584+32C>T) c.539+32C>T (n.539+32C>T) c.719+32C>T (n.719+32C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186360G>C | CA835245700 | ASB10 | c.584+32C>G (n.584+32C>G) c.539+32C>G (n.539+32C>G) c.719+32C>G (n.719+32C>G) | dbSNP gnomAD v4 |
7 | g.151186360G= | CA1752544710 | ASB10 | c.584+32C= (n.584+32C=) c.539+32C= (n.539+32C=) c.719+32C= (n.719+32C=) | |
7 | g.151186360G>T | CA2685657479 | ASB10 | c.584+32C>A (n.584+32C>A) c.539+32C>A (n.539+32C>A) c.719+32C>A (n.719+32C>A) | gnomAD v4 |
7 | g.151186361G>A | CA2685657480 | ASB10 | c.584+31C>T (n.584+31C>T) c.539+31C>T (n.539+31C>T) c.719+31C>T (n.719+31C>T) | gnomAD v4 |
7 | g.151186361G>C | CA2579066554 | ASB10 | c.584+31C>G (n.584+31C>G) c.539+31C>G (n.539+31C>G) c.719+31C>G (n.719+31C>G) | gnomAD v4 |
7 | g.151186361G>T | CA2685657481 | ASB10 | c.584+31C>A (n.584+31C>A) c.539+31C>A (n.539+31C>A) c.719+31C>A (n.719+31C>A) | gnomAD v4 |
7 | g.151186362A>T | CA2685657482 | ASB10 | c.584+30T>A (n.584+30T>A) c.539+30T>A (n.539+30T>A) c.719+30T>A (n.719+30T>A) | gnomAD v4 |
7 | g.151186363A>G | CA2685657483 | ASB10 | c.584+29T>C (n.584+29T>C) c.539+29T>C (n.539+29T>C) c.719+29T>C (n.719+29T>C) | gnomAD v4 |
7 | g.151186364C>A | CA2685657484 | ASB10 | c.584+28G>T (n.584+28G>T) c.539+28G>T (n.539+28G>T) c.719+28G>T (n.719+28G>T) | gnomAD v4 |
7 | g.151186364C>T | CA2685657485 | ASB10 | c.584+28G>A (n.584+28G>A) c.539+28G>A (n.539+28G>A) c.719+28G>A (n.719+28G>A) | gnomAD v4 |
7 | g.151186365T>C | CA2685657486 | ASB10 | c.584+27A>G (n.584+27A>G) c.539+27A>G (n.539+27A>G) c.719+27A>G (n.719+27A>G) | gnomAD v4 |
7 | g.151186366G>A | CA835245701 | ASB10 | c.584+26C>T (n.584+26C>T) c.539+26C>T (n.539+26C>T) c.719+26C>T (n.719+26C>T) | dbSNP gnomAD v4 |
7 | g.151186366G= | CA1752544713 | ASB10 | c.584+26C= (n.584+26C=) c.539+26C= (n.539+26C=) c.719+26C= (n.719+26C=) | |
7 | g.151186366G>T | CA169125078 | ASB10 | c.584+26C>A (n.584+26C>A) c.539+26C>A (n.539+26C>A) c.719+26C>A (n.719+26C>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151186370del | CA2685657487 | ASB10 | c.584+26del (n.584+26del) c.539+26del (n.539+26del) c.719+26del (n.719+26del) | gnomAD v4 |
7 | g.151186367G>A | CA169125079 | ASB10 | c.584+25C>T (n.584+25C>T) c.539+25C>T (n.539+25C>T) c.719+25C>T (n.719+25C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186367G>C | CA169125081 | ASB10 | c.584+25C>G (n.584+25C>G) c.539+25C>G (n.539+25C>G) c.719+25C>G (n.719+25C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186367G= | CA1752544715 | ASB10 | c.584+25C= (n.584+25C=) c.539+25C= (n.539+25C=) c.719+25C= (n.719+25C=) | |
7 | g.151186367G>T | CA2685657488 | ASB10 | c.584+25C>A (n.584+25C>A) c.539+25C>A (n.539+25C>A) c.719+25C>A (n.719+25C>A) | gnomAD v4 |
7 | g.151186368G>A | CA2685657489 | ASB10 | c.584+24C>T (n.584+24C>T) c.539+24C>T (n.539+24C>T) c.719+24C>T (n.719+24C>T) | gnomAD v4 |
7 | g.151186368G>C | CA169125093 | ASB10 | c.584+24C>G (n.584+24C>G) c.539+24C>G (n.539+24C>G) c.719+24C>G (n.719+24C>G) | dbSNP gnomAD v4 |
7 | g.151186368G= | CA1752544718 | ASB10 | c.584+24C= (n.584+24C=) c.539+24C= (n.539+24C=) c.719+24C= (n.719+24C=) | |
7 | g.151186368G>T | CA835245704 | ASB10 | c.584+24C>A (n.584+24C>A) c.539+24C>A (n.539+24C>A) c.719+24C>A (n.719+24C>A) | dbSNP gnomAD v4 |
7 | g.151186369G>A | CA1108728888 | ASB10 | c.584+23C>T (n.584+23C>T) c.539+23C>T (n.539+23C>T) c.719+23C>T (n.719+23C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151186369G= | CA1752544720 | ASB10 | c.584+23C= (n.584+23C=) c.539+23C= (n.539+23C=) c.719+23C= (n.719+23C=) | |
7 | g.151186369G>T | CA2685657490 | ASB10 | c.584+23C>A (n.584+23C>A) c.539+23C>A (n.539+23C>A) c.719+23C>A (n.719+23C>A) | gnomAD v4 |
7 | g.151186370G>A | CA169125097 | ASB10 | c.584+22C>T (n.584+22C>T) c.539+22C>T (n.539+22C>T) c.719+22C>T (n.719+22C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186370G= | CA1752544722 | ASB10 | c.584+22C= (n.584+22C=) c.539+22C= (n.539+22C=) c.719+22C= (n.719+22C=) | |
7 | g.151186370G>T | CA2685657491 | ASB10 | c.584+22C>A (n.584+22C>A) c.539+22C>A (n.539+22C>A) c.719+22C>A (n.719+22C>A) | gnomAD v4 |
7 | g.151186370_151186371delinsGT | CA1752544724 | ASB10 | c.584+21_584+22delinsAC (n.584+21_584+22delinsAC) c.539+21_539+22delinsAC (n.539+21_539+22delinsAC) c.719+21_719+22delinsAC (n.719+21_719+22delinsAC) | |
7 | g.151186371T>C | CA2685657492 | ASB10 | c.584+21A>G (n.584+21A>G) c.539+21A>G (n.539+21A>G) c.719+21A>G (n.719+21A>G) | gnomAD v4 |
7 | g.151186372del | CA835245708 | ASB10 | c.584+21del (n.584+21del) c.539+21del (n.539+21del) c.719+21del (n.719+21del) | dbSNP |
7 | g.151186372T>A | CA4573848 | ASB10 | c.584+20A>T (n.584+20A>T) c.539+20A>T (n.539+20A>T) c.719+20A>T (n.719+20A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186372T= | CA1752544729 | ASB10 | c.584+20A= (n.584+20A=) c.539+20A= (n.539+20A=) c.719+20A= (n.719+20A=) | |
7 | g.151186372_151186374delinsTGG | CA1752544727 | ASB10 | c.584+18_584+20delinsCCA (n.584+18_584+20delinsCCA) c.539+18_539+20delinsCCA (n.539+18_539+20delinsCCA) c.719+18_719+20delinsCCA (n.719+18_719+20delinsCCA) | |
7 | g.151186373G>A | CA579077200 | ASB10 | c.584+19C>T (n.584+19C>T) c.539+19C>T (n.539+19C>T) c.719+19C>T (n.719+19C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186373G= | CA1752544731 | ASB10 | c.584+19C= (n.584+19C=) c.539+19C= (n.539+19C=) c.719+19C= (n.719+19C=) | |
7 | g.151186373G>T | CA169125125 | ASB10 | c.584+19C>A (n.584+19C>A) c.539+19C>A (n.539+19C>A) c.719+19C>A (n.719+19C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186375_151186376del | CA1752544730 | ASB10 | c.584+18_584+19del (n.584+18_584+19del) c.539+18_539+19del (n.539+18_539+19del) c.719+18_719+19del (n.719+18_719+19del) | dbSNP |
7 | g.151186374G>A | CA2685657494 | ASB10 | c.584+18C>T (n.584+18C>T) c.539+18C>T (n.539+18C>T) c.719+18C>T (n.719+18C>T) | gnomAD v4 |
7 | g.151186374G>C | CA579077201 | ASB10 | c.584+18C>G (n.584+18C>G) c.539+18C>G (n.539+18C>G) c.719+18C>G (n.719+18C>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186374G= | CA1752544734 | ASB10 | c.584+18C= (n.584+18C=) c.539+18C= (n.539+18C=) c.719+18C= (n.719+18C=) | |
7 | g.151186374G>T | CA2685657493 | ASB10 | c.584+18C>A (n.584+18C>A) c.539+18C>A (n.539+18C>A) c.719+18C>A (n.719+18C>A) | gnomAD v4 |
7 | g.151186375G>A | CA2685657496 | ASB10 | c.584+17C>T (n.584+17C>T) c.539+17C>T (n.539+17C>T) c.719+17C>T (n.719+17C>T) | gnomAD v4 |
7 | g.151186375G>C | CA835245713 | ASB10 | c.584+17C>G (n.584+17C>G) c.539+17C>G (n.539+17C>G) c.719+17C>G (n.719+17C>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151186375G= | CA1752544736 | ASB10 | c.584+17C= (n.584+17C=) c.539+17C= (n.539+17C=) c.719+17C= (n.719+17C=) | |
7 | g.151186375G>T | CA2685657495 | ASB10 | c.584+17C>A (n.584+17C>A) c.539+17C>A (n.539+17C>A) c.719+17C>A (n.719+17C>A) | gnomAD v4 |
7 | g.151186376G>A | CA2685657498 | ASB10 | c.584+16C>T (n.584+16C>T) c.539+16C>T (n.539+16C>T) c.719+16C>T (n.719+16C>T) | gnomAD v4 |
7 | g.151186376G>T | CA2685657497 | ASB10 | c.584+16C>A (n.584+16C>A) c.539+16C>A (n.539+16C>A) c.719+16C>A (n.719+16C>A) | gnomAD v4 |
7 | g.151186377T>C | CA2685657499 | ASB10 | c.584+15A>G (n.584+15A>G) c.539+15A>G (n.539+15A>G) c.719+15A>G (n.719+15A>G) | gnomAD v4 |
7 | g.151186378G>A | CA2685657500 | ASB10 | c.584+14C>T (n.584+14C>T) c.539+14C>T (n.539+14C>T) c.719+14C>T (n.719+14C>T) | gnomAD v4 |
7 | g.151186378G>T | CA2685657501 | ASB10 | c.584+14C>A (n.584+14C>A) c.539+14C>A (n.539+14C>A) c.719+14C>A (n.719+14C>A) | gnomAD v4 |
7 | g.151186379A>G | CA2685657502 | ASB10 | c.584+13T>C (n.584+13T>C) c.539+13T>C (n.539+13T>C) c.719+13T>C (n.719+13T>C) | gnomAD v4 |
7 | g.151186379A>T | CA2685657503 | ASB10 | c.584+13T>A (n.584+13T>A) c.539+13T>A (n.539+13T>A) c.719+13T>A (n.719+13T>A) | gnomAD v4 |
7 | g.151186380G>A | CA4573849 | ASB10 | c.584+12C>T (n.584+12C>T) c.539+12C>T (n.539+12C>T) c.719+12C>T (n.719+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186380G= | CA1752544739 | ASB10 | c.584+12C= (n.584+12C=) c.539+12C= (n.539+12C=) c.719+12C= (n.719+12C=) | |
7 | g.151186380G>T | CA2571407606 | ASB10 | c.584+12C>A (n.584+12C>A) c.539+12C>A (n.539+12C>A) c.719+12C>A (n.719+12C>A) | gnomAD v4 |
7 | g.151186381G>A | CA2685657504 | ASB10 | c.584+11C>T (n.584+11C>T) c.539+11C>T (n.539+11C>T) c.719+11C>T (n.719+11C>T) | gnomAD v4 |
7 | g.151186381G>T | CA2685657505 | ASB10 | c.584+11C>A (n.584+11C>A) c.539+11C>A (n.539+11C>A) c.719+11C>A (n.719+11C>A) | gnomAD v4 |
7 | g.151186382G>A | CA2685657506 | ASB10 | c.584+10C>T (n.584+10C>T) c.539+10C>T (n.539+10C>T) c.719+10C>T (n.719+10C>T) | gnomAD v4 |
7 | g.151186382G= | CA1752544742 | ASB10 | c.584+10C= (n.584+10C=) c.539+10C= (n.539+10C=) c.719+10C= (n.719+10C=) | |
7 | g.151186382G>T | CA579077202 | ASB10 | c.584+10C>A (n.584+10C>A) c.539+10C>A (n.539+10C>A) c.719+10C>A (n.719+10C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186383G>A | CA4573850 | ASB10 | c.584+9C>T (n.584+9C>T) c.539+9C>T (n.539+9C>T) c.719+9C>T (n.719+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186383G= | CA1752544746 | ASB10 | c.584+9C= (n.584+9C=) c.539+9C= (n.539+9C=) c.719+9C= (n.719+9C=) | |
7 | g.151186383G>T | CA579077203 | ASB10 | c.584+9C>A (n.584+9C>A) c.539+9C>A (n.539+9C>A) c.719+9C>A (n.719+9C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186384T>C | CA169125138 | ASB10 | c.584+8A>G (n.584+8A>G) c.539+8A>G (n.539+8A>G) c.719+8A>G (n.719+8A>G) | dbSNP gnomAD v4 |
7 | g.151186384T= | CA1752544750 | ASB10 | c.584+8A= (n.584+8A=) c.539+8A= (n.539+8A=) c.719+8A= (n.719+8A=) | |
7 | g.151186385C>A | CA579077204 | ASB10 | c.584+7G>T (n.584+7G>T) c.539+7G>T (n.539+7G>T) c.719+7G>T (n.719+7G>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186385C= | CA1752544752 | ASB10 | c.584+7G= (n.584+7G=) c.539+7G= (n.539+7G=) c.719+7G= (n.719+7G=) | |
7 | g.151186385C>T | CA2685657507 | ASB10 | c.584+7G>A (n.584+7G>A) c.539+7G>A (n.539+7G>A) c.719+7G>A (n.719+7G>A) | gnomAD v4 |
7 | g.151186386A>G | CA2685657508 | ASB10 | c.584+6T>C (n.584+6T>C) c.539+6T>C (n.539+6T>C) c.719+6T>C (n.719+6T>C) | gnomAD v4 |
7 | g.151186386A>T | CA2685657509 | ASB10 | c.584+6T>A (n.584+6T>A) c.539+6T>A (n.539+6T>A) c.719+6T>A (n.719+6T>A) | gnomAD v4 |
7 | g.151186387C>A | CA2685657510 | ASB10 | c.584+5G>T (n.584+5G>T) c.539+5G>T (n.539+5G>T) c.719+5G>T (n.719+5G>T) | gnomAD v4 |
7 | g.151186387C= | CA1752544755 | ASB10 | c.584+5G= (n.584+5G=) c.539+5G= (n.539+5G=) c.719+5G= (n.719+5G=) | |
7 | g.151186387C>G | CA2685657511 | ASB10 | c.584+5G>C (n.584+5G>C) c.539+5G>C (n.539+5G>C) c.719+5G>C (n.719+5G>C) | gnomAD v4 |
7 | g.151186387C>T | CA4573851 | ASB10 | c.584+5G>A (n.584+5G>A) c.539+5G>A (n.539+5G>A) c.719+5G>A (n.719+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186388T>A | CA169125141 | ASB10 | c.584+4A>T (n.584+4A>T) c.539+4A>T (n.539+4A>T) c.719+4A>T (n.719+4A>T) | dbSNP gnomAD v4 |
7 | g.151186388T= | CA1752544758 | ASB10 | c.584+4A= (n.584+4A=) c.539+4A= (n.539+4A=) c.719+4A= (n.719+4A=) | |
7 | g.151186389C>A | CA2685657512 | ASB10 | c.584+3G>T (n.584+3G>T) c.539+3G>T (n.539+3G>T) c.719+3G>T (n.719+3G>T) | gnomAD v4 |
7 | g.151186389C>T | CA2685657513 | ASB10 | c.584+3G>A (n.584+3G>A) c.539+3G>A (n.539+3G>A) c.719+3G>A (n.719+3G>A) | gnomAD v4 |
7 | g.151186390A>C | CA370035612 | ASB10 | c.584+2T>G (n.584+2T>G) c.539+2T>G (n.539+2T>G) c.719+2T>G (n.719+2T>G) | gnomAD v4 |
7 | g.151186390A>G | CA370035614 | ASB10 | c.584+2T>C (n.584+2T>C) c.539+2T>C (n.539+2T>C) c.719+2T>C (n.719+2T>C) | |
7 | g.151186390A>T | CA370035611 | ASB10 | c.584+2T>A (n.584+2T>A) c.539+2T>A (n.539+2T>A) c.719+2T>A (n.719+2T>A) | gnomAD v4 |
7 | g.151186391C>A | CA370035617 | ASB10 | c.584+1G>T (n.584+1G>T) c.539+1G>T (n.539+1G>T) c.719+1G>T (n.719+1G>T) | gnomAD v4 |
7 | g.151186391C= | CA1752544760 | ASB10 | c.584+1G= (n.584+1G=) c.539+1G= (n.539+1G=) c.719+1G= (n.719+1G=) | |
7 | g.151186391C>G | CA370035618 | ASB10 | c.584+1G>C (n.584+1G>C) c.539+1G>C (n.539+1G>C) c.719+1G>C (n.719+1G>C) | gnomAD v4 |
7 | g.151186391C>T | CA370035620 | ASB10 | c.584+1G>A (n.584+1G>A) c.539+1G>A (n.539+1G>A) c.719+1G>A (n.719+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186392T>A | CA370035622 | ASB10 | c.584A>T (p.Glu195Val) c.539A>T (p.Glu180Val) c.719A>T (p.Glu240Val) | gnomAD v4 |
7 | g.151186392T>C | CA370035624 | ASB10 | c.584A>G (p.Glu195Gly) c.539A>G (p.Glu180Gly) c.719A>G (p.Glu240Gly) | |
7 | g.151186392T>G | CA370035626 | ASB10 | c.584A>C (p.Glu195Ala) c.539A>C (p.Glu180Ala) c.719A>C (p.Glu240Ala) | |
7 | g.151186393C>A | CA370035632 | ASB10 | c.583G>T (p.Glu195Ter) c.538G>T (p.Glu180Ter) c.718G>T (p.Glu240Ter) | gnomAD v4 |
7 | g.151186393C>G | CA370035628 | ASB10 | c.583G>C (p.Glu195Gln) c.538G>C (p.Glu180Gln) c.718G>C (p.Glu240Gln) | |
7 | g.151186393C>T | CA370035630 | ASB10 | c.583G>A (p.Glu195Lys) c.538G>A (p.Glu180Lys) c.718G>A (p.Glu240Lys) | gnomAD v4 |
7 | g.151186394A>C | CA458881268 | ASB10 | c.582T>G (p.Leu194=) c.537T>G (p.Leu179=) c.717T>G (p.Leu239=) | |
7 | g.151186394A>G | CA458881269 | ASB10 | c.582T>C (p.Leu194=) c.537T>C (p.Leu179=) c.717T>C (p.Leu239=) | |
7 | g.151186394A>T | CA458881271 | ASB10 | c.582T>A (p.Leu194=) c.537T>A (p.Leu179=) c.717T>A (p.Leu239=) | |
7 | g.151186395A>C | CA370035635 | ASB10 | c.581T>G (p.Leu194Arg) c.536T>G (p.Leu179Arg) c.716T>G (p.Leu239Arg) | |
7 | g.151186395A>G | CA370035636 | ASB10 | c.581T>C (p.Leu194Pro) c.536T>C (p.Leu179Pro) c.716T>C (p.Leu239Pro) | gnomAD v4 |
7 | g.151186395A>T | CA370035638 | ASB10 | c.581T>A (p.Leu194His) c.536T>A (p.Leu179His) c.716T>A (p.Leu239His) | gnomAD v4 |
7 | g.151186396G>A | CA370035640 | ASB10 | c.580C>T (p.Leu194Phe) c.535C>T (p.Leu179Phe) c.715C>T (p.Leu239Phe) | |
7 | g.151186396G>C | CA370035642 | ASB10 | c.580C>G (p.Leu194Val) c.535C>G (p.Leu179Val) c.715C>G (p.Leu239Val) | |
7 | g.151186396G>T | CA370035643 | ASB10 | c.580C>A (p.Leu194Ile) c.535C>A (p.Leu179Ile) c.715C>A (p.Leu239Ile) | gnomAD v4 |
7 | g.151186397G>A | CA458881276 | ASB10 | c.579C>T (p.Thr193=) c.534C>T (p.Thr178=) c.714C>T (p.Thr238=) | gnomAD v4 |
7 | g.151186397G>C | CA458881278 | ASB10 | c.579C>G (p.Thr193=) c.534C>G (p.Thr178=) c.714C>G (p.Thr238=) | |
7 | g.151186397G>T | CA458881279 | ASB10 | c.579C>A (p.Thr193=) c.534C>A (p.Thr178=) c.714C>A (p.Thr238=) | gnomAD v4 |
7 | g.151186398G>A | CA4573852 | ASB10 | c.578C>T (p.Thr193Ile) c.533C>T (p.Thr178Ile) c.713C>T (p.Thr238Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186398G>C | CA370035647 | ASB10 | c.578C>G (p.Thr193Ser) c.533C>G (p.Thr178Ser) c.713C>G (p.Thr238Ser) | gnomAD v4 |
7 | g.151186398G= | CA1752544762 | ASB10 | c.578C= (p.Thr193=) c.533C= (p.Thr178=) c.713C= (p.Thr238=) | |
7 | g.151186398G>T | CA370035646 | ASB10 | c.578C>A (p.Thr193Asn) c.533C>A (p.Thr178Asn) c.713C>A (p.Thr238Asn) | |
7 | g.151186399T>A | CA370035649 | ASB10 | c.577A>T (p.Thr193Ser) c.532A>T (p.Thr178Ser) c.712A>T (p.Thr238Ser) | |
7 | g.151186399T>C | CA370035651 | ASB10 | c.577A>G (p.Thr193Ala) c.532A>G (p.Thr178Ala) c.712A>G (p.Thr238Ala) | |
7 | g.151186399T>G | CA370035653 | ASB10 | c.577A>C (p.Thr193Pro) c.532A>C (p.Thr178Pro) c.712A>C (p.Thr238Pro) | |
7 | g.151186400G>A | CA458881283 | ASB10 | c.576C>T (p.Gly192=) c.531C>T (p.Gly177=) c.711C>T (p.Gly237=) | gnomAD v4 |
7 | g.151186400G>C | CA458881286 | ASB10 | c.576C>G (p.Gly192=) c.531C>G (p.Gly177=) c.711C>G (p.Gly237=) | |
7 | g.151186400G>T | CA458881285 | ASB10 | c.576C>A (p.Gly192=) c.531C>A (p.Gly177=) c.711C>A (p.Gly237=) | gnomAD v4 |
7 | g.151186401C>A | CA370035655 | ASB10 | c.575G>T (p.Gly192Val) c.530G>T (p.Gly177Val) c.710G>T (p.Gly237Val) | gnomAD v4 |
7 | g.151186401C= | CA1752544764 | ASB10 | c.575G= (p.Gly192=) c.530G= (p.Gly177=) c.710G= (p.Gly237=) | |
7 | g.151186401C>G | CA370035657 | ASB10 | c.575G>C (p.Gly192Ala) c.530G>C (p.Gly177Ala) c.710G>C (p.Gly237Ala) | |
7 | g.151186401C>T | CA370035659 | ASB10 | c.575G>A (p.Gly192Asp) c.530G>A (p.Gly177Asp) c.710G>A (p.Gly237Asp) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151186402C>A | CA370035660 | ASB10 | c.574G>T (p.Gly192Cys) c.529G>T (p.Gly177Cys) c.709G>T (p.Gly237Cys) | gnomAD v4 |
7 | g.151186402C= | CA1752544768 | ASB10 | c.574G= (p.Gly192=) c.529G= (p.Gly177=) c.709G= (p.Gly237=) | |
7 | g.151186402C>G | CA370035662 | ASB10 | c.574G>C (p.Gly192Arg) c.529G>C (p.Gly177Arg) c.709G>C (p.Gly237Arg) | |
7 | g.151186402C>T | CA370035664 | ASB10 | c.574G>A (p.Gly192Ser) c.529G>A (p.Gly177Ser) c.709G>A (p.Gly237Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186403A>C | CA458881291 | ASB10 | c.573T>G (p.Pro191=) c.528T>G (p.Pro176=) c.708T>G (p.Pro236=) | |
7 | g.151186403A>G | CA458881292 | ASB10 | c.573T>C (p.Pro191=) c.528T>C (p.Pro176=) c.708T>C (p.Pro236=) | gnomAD v4 |
7 | g.151186403A>T | CA458881293 | ASB10 | c.573T>A (p.Pro191=) c.528T>A (p.Pro176=) c.708T>A (p.Pro236=) | |
7 | g.151186404G>A | CA370035666 | ASB10 | c.572C>T (p.Pro191Leu) c.527C>T (p.Pro176Leu) c.707C>T (p.Pro236Leu) | dbSNP |
7 | g.151186404G>C | CA370035667 | ASB10 | c.572C>G (p.Pro191Arg) c.527C>G (p.Pro176Arg) c.707C>G (p.Pro236Arg) | |
7 | g.151186404G= | CA1752544772 | ASB10 | c.572C= (p.Pro191=) c.527C= (p.Pro176=) c.707C= (p.Pro236=) | |
7 | g.151186404G>T | CA370035669 | ASB10 | c.572C>A (p.Pro191His) c.527C>A (p.Pro176His) c.707C>A (p.Pro236His) | gnomAD v4 |
7 | g.151186405G>A | CA370035671 | ASB10 | c.571C>T (p.Pro191Ser) c.526C>T (p.Pro176Ser) c.706C>T (p.Pro236Ser) | gnomAD v4 |
7 | g.151186405G>C | CA370035674 | ASB10 | c.571C>G (p.Pro191Ala) c.526C>G (p.Pro176Ala) c.706C>G (p.Pro236Ala) | gnomAD v4 |
7 | g.151186405G= | CA1752544775 | ASB10 | c.571C= (p.Pro191=) c.526C= (p.Pro176=) c.706C= (p.Pro236=) | |
7 | g.151186405G>T | CA4573853 | ASB10 | c.571C>A (p.Pro191Thr) c.526C>A (p.Pro176Thr) c.706C>A (p.Pro236Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186405_151186406delinsGC | CA1752544778 | ASB10 | c.570_571delinsGC (p.Gly190=) c.525_526delinsGC (p.Gly175=) c.705_706delinsGC (p.Gly235=) | |
7 | g.151186406C>A | CA458881300 | ASB10 | c.570G>T (p.Gly190=) c.525G>T (p.Gly175=) c.705G>T (p.Gly235=) | gnomAD v4 |
7 | g.151186406C>G | CA458881301 | ASB10 | c.570G>C (p.Gly190=) c.525G>C (p.Gly175=) c.705G>C (p.Gly235=) | |
7 | g.151186406C>T | CA458881302 | ASB10 | c.570G>A (p.Gly190=) c.525G>A (p.Gly175=) c.705G>A (p.Gly235=) | gnomAD v4 |
7 | g.151186410dup | CA2778433433 | ASB10 | c.570dup (p.Pro191AlafsTer5) c.525dup (p.Pro176AlafsTer5) c.705dup (p.Pro236AlafsTer5) | |
7 | g.151186410del | CA4573854 | ASB10 | c.570del (p.Pro191LeufsTer?) c.525del (p.Pro176LeufsTer?) c.705del (p.Pro236LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186407C>A | CA370035676 | ASB10 | c.569G>T (p.Gly190Val) c.524G>T (p.Gly175Val) c.704G>T (p.Gly235Val) | |
7 | g.151186407C>G | CA370035678 | ASB10 | c.569G>C (p.Gly190Ala) c.524G>C (p.Gly175Ala) c.704G>C (p.Gly235Ala) | |
7 | g.151186407C>T | CA370035679 | ASB10 | c.569G>A (p.Gly190Glu) c.524G>A (p.Gly175Glu) c.704G>A (p.Gly235Glu) | gnomAD v4 |
7 | g.151186408C>A | CA370035680 | ASB10 | c.568G>T (p.Gly190Trp) c.523G>T (p.Gly175Trp) c.703G>T (p.Gly235Trp) | gnomAD v4 |
7 | g.151186408C= | CA1752544783 | ASB10 | c.568G= (p.Gly190=) c.523G= (p.Gly175=) c.703G= (p.Gly235=) | |
7 | g.151186408C>G | CA370035682 | ASB10 | c.568G>C (p.Gly190Arg) c.523G>C (p.Gly175Arg) c.703G>C (p.Gly235Arg) | |
7 | g.151186408C>T | CA4573855 | ASB10 | c.568G>A (p.Gly190Arg) c.523G>A (p.Gly175Arg) c.703G>A (p.Gly235Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
7 | g.151186409C>A | CA458881311 | ASB10 | c.567G>T (p.Arg189=) c.522G>T (p.Arg174=) c.702G>T (p.Arg234=) | gnomAD v4 |
7 | g.151186409C= | CA1752544786 | ASB10 | c.567G= (p.Arg189=) c.522G= (p.Arg174=) c.702G= (p.Arg234=) | |
7 | g.151186409C>G | CA458881312 | ASB10 | c.567G>C (p.Arg189=) c.522G>C (p.Arg174=) c.702G>C (p.Arg234=) | |
7 | g.151186409C>T | CA458881310 | ASB10 | c.567G>A (p.Arg189=) c.522G>A (p.Arg174=) c.702G>A (p.Arg234=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186410C>A | CA370035685 | ASB10 | c.566G>T (p.Arg189Leu) c.521G>T (p.Arg174Leu) c.701G>T (p.Arg234Leu) | gnomAD v4 |
7 | g.151186410C= | CA1752544789 | ASB10 | c.566G= (p.Arg189=) c.521G= (p.Arg174=) c.701G= (p.Arg234=) | |
7 | g.151186410C>G | CA370035687 | ASB10 | c.566G>C (p.Arg189Pro) c.521G>C (p.Arg174Pro) c.701G>C (p.Arg234Pro) | gnomAD v4 |
7 | g.151186410C>T | CA169125146 | ASB10 | c.566G>A (p.Arg189Gln) c.521G>A (p.Arg174Gln) c.701G>A (p.Arg234Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186411G>A | CA150496 | ASB10 | c.565C>T (p.Arg189Trp) c.520C>T (p.Arg174Trp) c.700C>T (p.Arg234Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.151186411G>C | CA370035690 | ASB10 | c.565C>G (p.Arg189Gly) c.520C>G (p.Arg174Gly) c.700C>G (p.Arg234Gly) | gnomAD v4 |
7 | g.151186411G= | CA1752544796 | ASB10 | c.565C= (p.Arg189=) c.520C= (p.Arg174=) c.700C= (p.Arg234=) | |
7 | g.151186411G>T | CA458881319 | ASB10 | c.565C>A (p.Arg189=) c.520C>A (p.Arg174=) c.700C>A (p.Arg234=) | gnomAD v4 |
7 | g.151186412G>A | CA458881322 | ASB10 | c.564C>T (p.Cys188=) c.519C>T (p.Cys173=) c.699C>T (p.Cys233=) | gnomAD v4 |
7 | g.151186412G>C | CA370035692 | ASB10 | c.564C>G (p.Cys188Trp) c.519C>G (p.Cys173Trp) c.699C>G (p.Cys233Trp) | |
7 | g.151186412G= | CA1752544801 | ASB10 | c.564C= (p.Cys188=) c.519C= (p.Cys173=) c.699C= (p.Cys233=) | |
7 | g.151186412G>T | CA143897 | ASB10 | c.564C>A (p.Cys188Ter) c.519C>A (p.Cys173Ter) c.699C>A (p.Cys233Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186413C>A | CA4573856 | ASB10 | c.563G>T (p.Cys188Phe) c.518G>T (p.Cys173Phe) c.698G>T (p.Cys233Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186413C= | CA1752544807 | ASB10 | c.563G= (p.Cys188=) c.518G= (p.Cys173=) c.698G= (p.Cys233=) | |
7 | g.151186413C>G | CA370035698 | ASB10 | c.563G>C (p.Cys188Ser) c.518G>C (p.Cys173Ser) c.698G>C (p.Cys233Ser) | gnomAD v4 |
7 | g.151186413C>T | CA370035696 | ASB10 | c.563G>A (p.Cys188Tyr) c.518G>A (p.Cys173Tyr) c.698G>A (p.Cys233Tyr) | gnomAD v4 |
7 | g.151186414A>C | CA370035699 | ASB10 | c.562T>G (p.Cys188Gly) c.517T>G (p.Cys173Gly) c.697T>G (p.Cys233Gly) | |
7 | g.151186414A>G | CA370035701 | ASB10 | c.562T>C (p.Cys188Arg) c.517T>C (p.Cys173Arg) c.697T>C (p.Cys233Arg) | |
7 | g.151186414A>T | CA370035703 | ASB10 | c.562T>A (p.Cys188Ser) c.517T>A (p.Cys173Ser) c.697T>A (p.Cys233Ser) | |
7 | g.151186415G>A | CA458881329 | ASB10 | c.561C>T (p.Leu187=) c.516C>T (p.Leu172=) c.696C>T (p.Leu232=) | dbSNP |
7 | g.151186415G>C | CA458881331 | ASB10 | c.561C>G (p.Leu187=) c.516C>G (p.Leu172=) c.696C>G (p.Leu232=) | |
7 | g.151186415G>T | CA458881330 | ASB10 | c.561C>A (p.Leu187=) c.516C>A (p.Leu172=) c.696C>A (p.Leu232=) | gnomAD v4 |
7 | g.151186416A= | CA1752544813 | ASB10 | c.560T= (p.Leu187=) c.515T= (p.Leu172=) c.695T= (p.Leu232=) | |
7 | g.151186416A>C | CA370035705 | ASB10 | c.560T>G (p.Leu187Arg) c.515T>G (p.Leu172Arg) c.695T>G (p.Leu232Arg) | |
7 | g.151186416A>G | CA370035706 | ASB10 | c.560T>C (p.Leu187Pro) c.515T>C (p.Leu172Pro) c.695T>C (p.Leu232Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186416A>T | CA370035708 | ASB10 | c.560T>A (p.Leu187His) c.515T>A (p.Leu172His) c.695T>A (p.Leu232His) | |
7 | g.151186417G>A | CA370035710 | ASB10 | c.559C>T (p.Leu187Phe) c.514C>T (p.Leu172Phe) c.694C>T (p.Leu232Phe) | gnomAD v4 |
7 | g.151186417G>C | CA370035712 | ASB10 | c.559C>G (p.Leu187Val) c.514C>G (p.Leu172Val) c.694C>G (p.Leu232Val) | |
7 | g.151186417G>T | CA370035713 | ASB10 | c.559C>A (p.Leu187Ile) c.514C>A (p.Leu172Ile) c.694C>A (p.Leu232Ile) | gnomAD v4 |
7 | g.151186418A= | CA1752544816 | ASB10 | c.558T= (p.His186=) c.513T= (p.His171=) c.693T= (p.His231=) | |
7 | g.151186418A>C | CA370035715 | ASB10 | c.558T>G (p.His186Gln) c.513T>G (p.His171Gln) c.693T>G (p.His231Gln) | |
7 | g.151186418A>G | CA458881463 | ASB10 | c.558T>C (p.His186=) c.513T>C (p.His171=) c.693T>C (p.His231=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186418A>T | CA370035717 | ASB10 | c.558T>A (p.His186Gln) c.513T>A (p.His171Gln) c.693T>A (p.His231Gln) | gnomAD v4 |
7 | g.151186419T>A | CA370035722 | ASB10 | c.557A>T (p.His186Leu) c.512A>T (p.His171Leu) c.692A>T (p.His231Leu) | |
7 | g.151186419T>C | CA4573857 | ASB10 | c.557A>G (p.His186Arg) c.512A>G (p.His171Arg) c.692A>G (p.His231Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186419T>G | CA370035719 | ASB10 | c.557A>C (p.His186Pro) c.512A>C (p.His171Pro) c.692A>C (p.His231Pro) | gnomAD v4 |
7 | g.151186419T= | CA1752544818 | ASB10 | c.557A= (p.His186=) c.512A= (p.His171=) c.692A= (p.His231=) | |
7 | g.151186420G>A | CA370035724 | ASB10 | c.556C>T (p.His186Tyr) c.511C>T (p.His171Tyr) c.691C>T (p.His231Tyr) | |
7 | g.151186420G>C | CA370035728 | ASB10 | c.556C>G (p.His186Asp) c.511C>G (p.His171Asp) c.691C>G (p.His231Asp) | |
7 | g.151186420G= | CA1752544820 | ASB10 | c.556C= (p.His186=) c.511C= (p.His171=) c.691C= (p.His231=) | |
7 | g.151186420G>T | CA370035726 | ASB10 | c.556C>A (p.His186Asn) c.511C>A (p.His171Asn) c.691C>A (p.His231Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186421C>A | CA458881466 | ASB10 | c.555G>T (p.Leu185=) c.510G>T (p.Leu170=) c.690G>T (p.Leu230=) | gnomAD v4 |
7 | g.151186421C>G | CA458881467 | ASB10 | c.555G>C (p.Leu185=) c.510G>C (p.Leu170=) c.690G>C (p.Leu230=) | |
7 | g.151186421C>T | CA458881468 | ASB10 | c.555G>A (p.Leu185=) c.510G>A (p.Leu170=) c.690G>A (p.Leu230=) | gnomAD v4 |
7 | g.151186422A= | CA1752544823 | ASB10 | c.554T= (p.Leu185=) c.509T= (p.Leu170=) c.689T= (p.Leu230=) | |
7 | g.151186422A>C | CA370035730 | ASB10 | c.554T>G (p.Leu185Arg) c.509T>G (p.Leu170Arg) c.689T>G (p.Leu230Arg) | |
7 | g.151186422A>G | CA4573858 | ASB10 | c.554T>C (p.Leu185Pro) c.509T>C (p.Leu170Pro) c.689T>C (p.Leu230Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186422A>T | CA370035731 | ASB10 | c.554T>A (p.Leu185Gln) c.509T>A (p.Leu170Gln) c.689T>A (p.Leu230Gln) | gnomAD v4 |
7 | g.151186423G>A | CA458881469 | ASB10 | c.553C>T (p.Leu185=) c.508C>T (p.Leu170=) c.688C>T (p.Leu230=) | |
7 | g.151186423G>C | CA370035734 | ASB10 | c.553C>G (p.Leu185Val) c.508C>G (p.Leu170Val) c.688C>G (p.Leu230Val) | |
7 | g.151186423G>T | CA370035735 | ASB10 | c.553C>A (p.Leu185Met) c.508C>A (p.Leu170Met) c.688C>A (p.Leu230Met) | |
7 | g.151186427dup | CA2685657514 | ASB10 | c.553dup (p.Leu185ProfsTer11) c.508dup (p.Leu170ProfsTer11) c.688dup (p.Leu230ProfsTer11) | gnomAD v4 |
7 | g.151186427del | CA2685657515 | ASB10 | c.553del (p.Leu185CysfsTer?) c.508del (p.Leu170CysfsTer?) c.688del (p.Leu230CysfsTer?) | gnomAD v4 |
7 | g.151186424G>A | CA458881470 | ASB10 | c.552C>T (p.Pro184=) c.507C>T (p.Pro169=) c.687C>T (p.Pro229=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186424G>C | CA458881471 | ASB10 | c.552C>G (p.Pro184=) c.507C>G (p.Pro169=) c.687C>G (p.Pro229=) | |
7 | g.151186424G= | CA1752544826 | ASB10 | c.552C= (p.Pro184=) c.507C= (p.Pro169=) c.687C= (p.Pro229=) | |
7 | g.151186424G>T | CA458881472 | ASB10 | c.552C>A (p.Pro184=) c.507C>A (p.Pro169=) c.687C>A (p.Pro229=) | |
7 | g.151186425G>A | CA370035738 | ASB10 | c.551C>T (p.Pro184Leu) c.506C>T (p.Pro169Leu) c.686C>T (p.Pro229Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186425G>C | CA169125157 | ASB10 | c.551C>G (p.Pro184Arg) c.506C>G (p.Pro169Arg) c.686C>G (p.Pro229Arg) | dbSNP |
7 | g.151186425G= | CA1752544830 | ASB10 | c.551C= (p.Pro184=) c.506C= (p.Pro169=) c.686C= (p.Pro229=) | |
7 | g.151186425G>T | CA370035739 | ASB10 | c.551C>A (p.Pro184His) c.506C>A (p.Pro169His) c.686C>A (p.Pro229His) | gnomAD v4 |
7 | g.151186426G>A | CA370035741 | ASB10 | c.550C>T (p.Pro184Ser) c.505C>T (p.Pro169Ser) c.685C>T (p.Pro229Ser) | |
7 | g.151186426G>C | CA370035743 | ASB10 | c.550C>G (p.Pro184Ala) c.505C>G (p.Pro169Ala) c.685C>G (p.Pro229Ala) | |
7 | g.151186426G>T | CA370035744 | ASB10 | c.550C>A (p.Pro184Thr) c.505C>A (p.Pro169Thr) c.685C>A (p.Pro229Thr) | |
7 | g.151186427G>A | CA169125158 | ASB10 | c.549C>T (p.Arg183=) c.504C>T (p.Arg168=) c.684C>T (p.Arg228=) | dbSNP gnomAD v4 |
7 | g.151186427G>C | CA458881476 | ASB10 | c.549C>G (p.Arg183=) c.504C>G (p.Arg168=) c.684C>G (p.Arg228=) | |
7 | g.151186427G= | CA1752544832 | ASB10 | c.549C= (p.Arg183=) c.504C= (p.Arg168=) c.684C= (p.Arg228=) | |
7 | g.151186427G>T | CA458881477 | ASB10 | c.549C>A (p.Arg183=) c.504C>A (p.Arg168=) c.684C>A (p.Arg228=) | gnomAD v4 |
7 | g.151186428C>A | CA370035746 | ASB10 | c.548G>T (p.Arg183Leu) c.503G>T (p.Arg168Leu) c.683G>T (p.Arg228Leu) | gnomAD v4 |
7 | g.151186428C= | CA1752544834 | ASB10 | c.548G= (p.Arg183=) c.503G= (p.Arg168=) c.683G= (p.Arg228=) | |
7 | g.151186428C>G | CA370035748 | ASB10 | c.548G>C (p.Arg183Pro) c.503G>C (p.Arg168Pro) c.683G>C (p.Arg228Pro) | gnomAD v4 |
7 | g.151186428C>T | CA370035750 | ASB10 | c.548G>A (p.Arg183His) c.503G>A (p.Arg168His) c.683G>A (p.Arg228His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186429G>A | CA150543 | ASB10 | c.547C>T (p.Arg183Cys) c.502C>T (p.Arg168Cys) c.682C>T (p.Arg228Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186429G>C | CA370035753 | ASB10 | c.547C>G (p.Arg183Gly) c.502C>G (p.Arg168Gly) c.682C>G (p.Arg228Gly) | |
7 | g.151186429G= | CA1752544836 | ASB10 | c.547C= (p.Arg183=) c.502C= (p.Arg168=) c.682C= (p.Arg228=) | |
7 | g.151186429G>T | CA370035755 | ASB10 | c.547C>A (p.Arg183Ser) c.502C>A (p.Arg168Ser) c.682C>A (p.Arg228Ser) | gnomAD v4 |
7 | g.151186430T>A | CA370035757 | ASB10 | c.546A>T (p.Lys182Asn) c.501A>T (p.Lys167Asn) c.681A>T (p.Lys227Asn) | ClinVar |
7 | g.151186430T>C | CA458881481 | ASB10 | c.546A>G (p.Lys182=) c.501A>G (p.Lys167=) c.681A>G (p.Lys227=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151186430T>G | CA370035758 | ASB10 | c.546A>C (p.Lys182Asn) c.501A>C (p.Lys167Asn) c.681A>C (p.Lys227Asn) | |
7 | g.151186430T= | CA1752544842 | ASB10 | c.546A= (p.Lys182=) c.501A= (p.Lys167=) c.681A= (p.Lys227=) | |
7 | g.151186432del | CA2685657516 | ASB10 | c.546del (p.Lys182AsnfsTer?) c.501del (p.Lys167AsnfsTer?) c.681del (p.Lys227AsnfsTer?) | gnomAD v4 |
7 | g.151186431T>A | CA370035764 | ASB10 | c.545A>T (p.Lys182Ile) c.500A>T (p.Lys167Ile) c.680A>T (p.Lys227Ile) | |
7 | g.151186431T>C | CA370035762 | ASB10 | c.545A>G (p.Lys182Arg) c.500A>G (p.Lys167Arg) c.680A>G (p.Lys227Arg) | gnomAD v4 |
7 | g.151186431T>G | CA370035761 | ASB10 | c.545A>C (p.Lys182Thr) c.500A>C (p.Lys167Thr) c.680A>C (p.Lys227Thr) | |
7 | g.151186432T>A | CA370035766 | ASB10 | c.544A>T (p.Lys182Ter) c.499A>T (p.Lys167Ter) c.679A>T (p.Lys227Ter) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186432T>C | CA370035767 | ASB10 | c.544A>G (p.Lys182Glu) c.499A>G (p.Lys167Glu) c.679A>G (p.Lys227Glu) | gnomAD v4 |
7 | g.151186432T>G | CA370035769 | ASB10 | c.544A>C (p.Lys182Gln) c.499A>C (p.Lys167Gln) c.679A>C (p.Lys227Gln) | |
7 | g.151186432T= | CA1752544846 | ASB10 | c.544A= (p.Lys182=) c.499A= (p.Lys167=) c.679A= (p.Lys227=) | |
7 | g.151186433C>A | CA458881485 | ASB10 | c.543G>T (p.Gly181=) c.498G>T (p.Gly166=) c.678G>T (p.Gly226=) | gnomAD v4 |
7 | g.151186433C= | CA1752544847 | ASB10 | c.543G= (p.Gly181=) c.498G= (p.Gly166=) c.678G= (p.Gly226=) | |
7 | g.151186433C>G | CA458881486 | ASB10 | c.543G>C (p.Gly181=) c.498G>C (p.Gly166=) c.678G>C (p.Gly226=) | |
7 | g.151186433C>T | CA458881487 | ASB10 | c.543G>A (p.Gly181=) c.498G>A (p.Gly166=) c.678G>A (p.Gly226=) | dbSNP gnomAD v4 |
7 | g.151186434C>A | CA370035770 | ASB10 | c.542G>T (p.Gly181Val) c.497G>T (p.Gly166Val) c.677G>T (p.Gly226Val) | gnomAD v4 |
7 | g.151186434C= | CA1752544850 | ASB10 | c.542G= (p.Gly181=) c.497G= (p.Gly166=) c.677G= (p.Gly226=) | |
7 | g.151186434C>G | CA370035771 | ASB10 | c.542G>C (p.Gly181Ala) c.497G>C (p.Gly166Ala) c.677G>C (p.Gly226Ala) | dbSNP |
7 | g.151186434C>T | CA370035773 | ASB10 | c.542G>A (p.Gly181Glu) c.497G>A (p.Gly166Glu) c.677G>A (p.Gly226Glu) |