Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.169525857G>T | CA2574085029 | F5 | c.5716+44C>A (n.5716+44C>A) c.5731+44C>A (n.5731+44C>A) c.5305+44C>A (n.5305+44C>A) | gnomAD v4 |
1 | g.169525858G>A | CA2649034274 | F5 | c.5716+43C>T (n.5716+43C>T) c.5731+43C>T (n.5731+43C>T) c.5305+43C>T (n.5305+43C>T) | gnomAD v4 |
1 | g.169525858G>T | CA2649034273 | F5 | c.5716+43C>A (n.5716+43C>A) c.5731+43C>A (n.5731+43C>A) c.5305+43C>A (n.5305+43C>A) | gnomAD v4 |
1 | g.169525859C>A | CA2649034277 | F5 | c.5716+42G>T (n.5716+42G>T) c.5731+42G>T (n.5731+42G>T) c.5305+42G>T (n.5305+42G>T) | gnomAD v4 |
1 | g.169525860A= | CA1206133628 | F5 | c.5716+41T= (n.5716+41T=) c.5731+41T= (n.5731+41T=) c.5305+41T= (n.5305+41T=) | |
1 | g.169525860A>C | CA1206133627 | F5 | c.5716+41T>G (n.5716+41T>G) c.5731+41T>G (n.5731+41T>G) c.5305+41T>G (n.5305+41T>G) | dbSNP |
1 | g.169525861C= | CA1206133629 | F5 | c.5716+40G= (n.5716+40G=) c.5731+40G= (n.5731+40G=) c.5305+40G= (n.5305+40G=) | |
1 | g.169525861C>T | CA1233429 | F5 | c.5716+40G>A (n.5716+40G>A) c.5731+40G>A (n.5731+40G>A) c.5305+40G>A (n.5305+40G>A) | dbSNP ExAC gnomAD v2 |
1 | g.169525862T>C | CA1233430 | F5 | c.5716+39A>G (n.5716+39A>G) c.5731+39A>G (n.5731+39A>G) c.5305+39A>G (n.5305+39A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169525862T= | CA1206133630 | F5 | c.5716+39A= (n.5716+39A=) c.5731+39A= (n.5731+39A=) c.5305+39A= (n.5305+39A=) | |
1 | g.169525863C= | CA1206133631 | F5 | c.5716+38G= (n.5716+38G=) c.5731+38G= (n.5731+38G=) c.5305+38G= (n.5305+38G=) | |
1 | g.169525863C>G | CA1233431 | F5 | c.5716+38G>C (n.5716+38G>C) c.5731+38G>C (n.5731+38G>C) c.5305+38G>C (n.5305+38G>C) | dbSNP ExAC gnomAD v2 |
1 | g.169525864T>A | CA1008973816 | F5 | c.5716+37A>T (n.5716+37A>T) c.5731+37A>T (n.5731+37A>T) c.5305+37A>T (n.5305+37A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169525864T>C | CA1206133633 | F5 | c.5716+37A>G (n.5716+37A>G) c.5731+37A>G (n.5731+37A>G) c.5305+37A>G (n.5305+37A>G) | dbSNP |
1 | g.169525864T= | CA1206133634 | F5 | c.5716+37A= (n.5716+37A=) c.5731+37A= (n.5731+37A=) c.5305+37A= (n.5305+37A=) | |
1 | g.169525865C>A | CA2649034282 | F5 | c.5716+36G>T (n.5716+36G>T) c.5731+36G>T (n.5731+36G>T) c.5305+36G>T (n.5305+36G>T) | gnomAD v4 |
1 | g.169525865C>T | CA2574085030 | F5 | c.5716+36G>A (n.5716+36G>A) c.5731+36G>A (n.5731+36G>A) c.5305+36G>A (n.5305+36G>A) | |
1 | g.169525867T>A | CA2649034283 | F5 | c.5716+34A>T (n.5716+34A>T) c.5731+34A>T (n.5731+34A>T) c.5305+34A>T (n.5305+34A>T) | gnomAD v4 |
1 | g.169525867T>C | CA2574085031 | F5 | c.5716+34A>G (n.5716+34A>G) c.5731+34A>G (n.5731+34A>G) c.5305+34A>G (n.5305+34A>G) | |
1 | g.169525868G>A | CA526710476 | F5 | c.5716+33C>T (n.5716+33C>T) c.5731+33C>T (n.5731+33C>T) c.5305+33C>T (n.5305+33C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169525868G= | CA1206133635 | F5 | c.5716+33C= (n.5716+33C=) c.5731+33C= (n.5731+33C=) c.5305+33C= (n.5305+33C=) | |
1 | g.169525868G>T | CA2649034286 | F5 | c.5716+33C>A (n.5716+33C>A) c.5731+33C>A (n.5731+33C>A) c.5305+33C>A (n.5305+33C>A) | gnomAD v4 |
1 | g.169525869C>A | CA1233432 | F5 | c.5716+32G>T (n.5716+32G>T) c.5731+32G>T (n.5731+32G>T) c.5305+32G>T (n.5305+32G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169525869C= | CA1206133636 | F5 | c.5716+32G= (n.5716+32G=) c.5731+32G= (n.5731+32G=) c.5305+32G= (n.5305+32G=) | |
1 | g.169525870C>A | CA1233433 | F5 | c.5716+31G>T (n.5716+31G>T) c.5731+31G>T (n.5731+31G>T) c.5305+31G>T (n.5305+31G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169525870C= | CA1206133637 | F5 | c.5716+31G= (n.5716+31G=) c.5731+31G= (n.5731+31G=) c.5305+31G= (n.5305+31G=) | |
1 | g.169525872A= | CA1206133638 | F5 | c.5716+29T= (n.5716+29T=) c.5731+29T= (n.5731+29T=) c.5305+29T= (n.5305+29T=) | |
1 | g.169525872A>G | CA1206133639 | F5 | c.5716+29T>C (n.5716+29T>C) c.5731+29T>C (n.5731+29T>C) c.5305+29T>C (n.5305+29T>C) | dbSNP |
1 | g.169525874C>T | CA2574085033 | F5 | c.5716+27G>A (n.5716+27G>A) c.5731+27G>A (n.5731+27G>A) c.5305+27G>A (n.5305+27G>A) | gnomAD v4 |
1 | g.169525875C>A | CA2649034292 | F5 | c.5716+26G>T (n.5716+26G>T) c.5731+26G>T (n.5731+26G>T) c.5305+26G>T (n.5305+26G>T) | gnomAD v4 |
1 | g.169525875C= | CA1206133640 | F5 | c.5716+26G= (n.5716+26G=) c.5731+26G= (n.5731+26G=) c.5305+26G= (n.5305+26G=) | |
1 | g.169525875C>T | CA1206133641 | F5 | c.5716+26G>A (n.5716+26G>A) c.5731+26G>A (n.5731+26G>A) c.5305+26G>A (n.5305+26G>A) | dbSNP |
1 | g.169525877A= | CA1206133642 | F5 | c.5716+24T= (n.5716+24T=) c.5731+24T= (n.5731+24T=) c.5305+24T= (n.5305+24T=) | |
1 | g.169525877A>G | CA1206133644 | F5 | c.5716+24T>C (n.5716+24T>C) c.5731+24T>C (n.5731+24T>C) c.5305+24T>C (n.5305+24T>C) | dbSNP |
1 | g.169525878A= | CA1206133645 | F5 | c.5716+23T= (n.5716+23T=) c.5731+23T= (n.5731+23T=) c.5305+23T= (n.5305+23T=) | |
1 | g.169525878A>G | CA526710477 | F5 | c.5716+23T>C (n.5716+23T>C) c.5731+23T>C (n.5731+23T>C) c.5305+23T>C (n.5305+23T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169525880A= | CA1206133647 | F5 | c.5716+21T= (n.5716+21T=) c.5731+21T= (n.5731+21T=) c.5305+21T= (n.5305+21T=) | |
1 | g.169525880A>C | CA32431724 | F5 | c.5716+21T>G (n.5716+21T>G) c.5731+21T>G (n.5731+21T>G) c.5305+21T>G (n.5305+21T>G) | dbSNP |
1 | g.169525881T>C | CA1233434 | F5 | c.5716+20A>G (n.5716+20A>G) c.5731+20A>G (n.5731+20A>G) c.5305+20A>G (n.5305+20A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169525881T= | CA1206133649 | F5 | c.5716+20A= (n.5716+20A=) c.5731+20A= (n.5731+20A=) c.5305+20A= (n.5305+20A=) | |
1 | g.169525883A>G | CA2649034305 | F5 | c.5716+18T>C (n.5716+18T>C) c.5731+18T>C (n.5731+18T>C) c.5305+18T>C (n.5305+18T>C) | gnomAD v4 |
1 | g.169525884C= | CA1144108593 | F5 | c.5716+17G= (n.5716+17G=) c.5731+17G= (n.5731+17G=) c.5305+17G= (n.5305+17G=) | |
1 | g.169525884C>T | CA1233435 | F5 | c.5716+17G>A (n.5716+17G>A) c.5731+17G>A (n.5731+17G>A) c.5305+17G>A (n.5305+17G>A) | dbSNP ExAC |
1 | g.169525885A= | CA1206133650 | F5 | c.5716+16T= (n.5716+16T=) c.5731+16T= (n.5731+16T=) c.5305+16T= (n.5305+16T=) | |
1 | g.169525885A>G | CA890921328 | F5 | c.5716+16T>C (n.5716+16T>C) c.5731+16T>C (n.5731+16T>C) c.5305+16T>C (n.5305+16T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.169525886T>A | CA2746573877 | F5 | c.5716+15A>T (n.5716+15A>T) c.5731+15A>T (n.5731+15A>T) c.5305+15A>T (n.5305+15A>T) | |
1 | g.169525887G>A | CA32431733 | F5 | c.5716+14C>T (n.5716+14C>T) c.5731+14C>T (n.5731+14C>T) c.5305+14C>T (n.5305+14C>T) | dbSNP |
1 | g.169525887G= | CA1143773549 | F5 | c.5716+14C= (n.5716+14C=) c.5731+14C= (n.5731+14C=) c.5305+14C= (n.5305+14C=) | |
1 | g.169525887_169525888insA | CA2746573878 | F5 | c.5716+13_5716+14insT (n.5716+13_5716+14insT) c.5731+13_5731+14insT (n.5731+13_5731+14insT) c.5305+13_5305+14insT (n.5305+13_5305+14insT) | |
1 | g.169525888G>A | CA2649034309 | F5 | c.5716+13C>T (n.5716+13C>T) c.5731+13C>T (n.5731+13C>T) c.5305+13C>T (n.5305+13C>T) | gnomAD v4 |
1 | g.169525888G>T | CA2649034308 | F5 | c.5716+13C>A (n.5716+13C>A) c.5731+13C>A (n.5731+13C>A) c.5305+13C>A (n.5305+13C>A) | gnomAD v4 |
1 | g.169525890del | CA2746573879 | F5 | c.5716+11del (n.5716+11del) c.5731+11del (n.5731+11del) c.5305+11del (n.5305+11del) | |
1 | g.169525891C= | CA1144839998 | F5 | c.5716+10G= (n.5716+10G=) c.5731+10G= (n.5731+10G=) c.5305+10G= (n.5305+10G=) | |
1 | g.169525891C>T | CA1233436 | F5 | c.5716+10G>A (n.5716+10G>A) c.5731+10G>A (n.5731+10G>A) c.5305+10G>A (n.5305+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169525892T>A | CA2746573890 | F5 | c.5716+9A>T (n.5716+9A>T) c.5731+9A>T (n.5731+9A>T) c.5305+9A>T (n.5305+9A>T) | |
1 | g.169525892T>C | CA1233437 | F5 | c.5716+9A>G (n.5716+9A>G) c.5731+9A>G (n.5731+9A>G) c.5305+9A>G (n.5305+9A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169525892T= | CA1143999020 | F5 | c.5716+9A= (n.5716+9A=) c.5731+9A= (n.5731+9A=) c.5305+9A= (n.5305+9A=) | |
1 | g.169525893T>C | CA2649034318 | F5 | c.5716+8A>G (n.5716+8A>G) c.5731+8A>G (n.5731+8A>G) c.5305+8A>G (n.5305+8A>G) | gnomAD v4 |
1 | g.169525894G>A | CA2649034323 | F5 | c.5716+7C>T (n.5716+7C>T) c.5731+7C>T (n.5731+7C>T) c.5305+7C>T (n.5305+7C>T) | gnomAD v4 |
1 | g.169525894G= | CA1206133651 | F5 | c.5716+7C= (n.5716+7C=) c.5731+7C= (n.5731+7C=) c.5305+7C= (n.5305+7C=) | |
1 | g.169525894G>T | CA526710478 | F5 | c.5716+7C>A (n.5716+7C>A) c.5731+7C>A (n.5731+7C>A) c.5305+7C>A (n.5305+7C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169525895T>C | CA2525851617 | F5 | c.5716+6A>G (n.5716+6A>G) c.5731+6A>G (n.5731+6A>G) c.5305+6A>G (n.5305+6A>G) | |
1 | g.169525896del | CA2649034336 | F5 | c.5716+5del (n.5716+5del) c.5731+5del (n.5731+5del) c.5305+5del (n.5305+5del) | gnomAD v4 |
1 | g.169525896G>A | CA526710479 | F5 | c.5716+5C>T (n.5716+5C>T) c.5731+5C>T (n.5731+5C>T) c.5305+5C>T (n.5305+5C>T) | dbSNP gnomAD v2 |
1 | g.169525896G= | CA1206133652 | F5 | c.5716+5C= (n.5716+5C=) c.5731+5C= (n.5731+5C=) c.5305+5C= (n.5305+5C=) | |
1 | g.169525896G>T | CA2574085036 | F5 | c.5716+5C>A (n.5716+5C>A) c.5731+5C>A (n.5731+5C>A) c.5305+5C>A (n.5305+5C>A) | gnomAD v4 |
1 | g.169525898T>C | CA2649034342 | F5 | c.5716+3A>G (n.5716+3A>G) c.5731+3A>G (n.5731+3A>G) c.5305+3A>G (n.5305+3A>G) | gnomAD v4 |
1 | g.169525899A>C | CA343124478 | F5 | c.5716+2T>G (n.5716+2T>G) c.5731+2T>G (n.5731+2T>G) c.5305+2T>G (n.5305+2T>G) | |
1 | g.169525899A>G | CA343124476 | F5 | c.5716+2T>C (n.5716+2T>C) c.5731+2T>C (n.5731+2T>C) c.5305+2T>C (n.5305+2T>C) | |
1 | g.169525899A>T | CA343124475 | F5 | c.5716+2T>A (n.5716+2T>A) c.5731+2T>A (n.5731+2T>A) c.5305+2T>A (n.5305+2T>A) | |
1 | g.169525900C>A | CA343124480 | F5 | c.5716+1G>T (n.5716+1G>T) c.5731+1G>T (n.5731+1G>T) c.5305+1G>T (n.5305+1G>T) | |
1 | g.169525900C>G | CA343124484 | F5 | c.5716+1G>C (n.5716+1G>C) c.5731+1G>C (n.5731+1G>C) c.5305+1G>C (n.5305+1G>C) | |
1 | g.169525900C>T | CA343124482 | F5 | c.5716+1G>A (n.5716+1G>A) c.5731+1G>A (n.5731+1G>A) c.5305+1G>A (n.5305+1G>A) | gnomAD v4 |
1 | g.169525900_169525901del | CA2746573891 | F5 | c.5716_5716+1del c.5731_5731+1del c.5305_5305+1del | |
1 | g.169525901C>A | CA343124486 | F5 | c.5716G>T (p.Asp1906Tyr) c.5731G>T (p.Asp1911Tyr) c.5305G>T (p.Asp1769Tyr) | |
1 | g.169525901C>G | CA343124489 | F5 | c.5716G>C (p.Asp1906His) c.5731G>C (p.Asp1911His) c.5305G>C (p.Asp1769His) | |
1 | g.169525901C>T | CA343124492 | F5 | c.5716G>A (p.Asp1906Asn) c.5731G>A (p.Asp1911Asn) c.5305G>A (p.Asp1769Asn) | |
1 | g.169525902T>A | CA343124498 | F5 | c.5715A>T (p.Arg1905Ser) c.5730A>T (p.Arg1910Ser) c.5304A>T (p.Arg1768Ser) | |
1 | g.169525902T>C | CA421735088 | F5 | c.5715A>G (p.Arg1905=) c.5730A>G (p.Arg1910=) c.5304A>G (p.Arg1768=) | gnomAD v4 |
1 | g.169525902T>G | CA343124500 | F5 | c.5715A>C (p.Arg1905Ser) c.5730A>C (p.Arg1910Ser) c.5304A>C (p.Arg1768Ser) | |
1 | g.169525903C>A | CA343124503 | F5 | c.5714G>T (p.Arg1905Ile) c.5729G>T (p.Arg1910Ile) c.5303G>T (p.Arg1768Ile) | |
1 | g.169525903C>G | CA343124506 | F5 | c.5714G>C (p.Arg1905Thr) c.5729G>C (p.Arg1910Thr) c.5303G>C (p.Arg1768Thr) | |
1 | g.169525903C>T | CA343124510 | F5 | c.5714G>A (p.Arg1905Lys) c.5729G>A (p.Arg1910Lys) c.5303G>A (p.Arg1768Lys) | |
1 | g.169525904T>A | CA343124513 | F5 | c.5713A>T (p.Arg1905Ter) c.5728A>T (p.Arg1910Ter) c.5302A>T (p.Arg1768Ter) | |
1 | g.169525904T>C | CA343124516 | F5 | c.5713A>G (p.Arg1905Gly) c.5728A>G (p.Arg1910Gly) c.5302A>G (p.Arg1768Gly) | dbSNP gnomAD v4 |
1 | g.169525904T>G | CA421735089 | F5 | c.5713A>C (p.Arg1905=) c.5728A>C (p.Arg1910=) c.5302A>C (p.Arg1768=) | |
1 | g.169525904T= | CA1206133654 | F5 | c.5713A= (p.Arg1905=) c.5728A= (p.Arg1910=) c.5302A= (p.Arg1768=) | |
1 | g.169525905G>A | CA421735090 | F5 | c.5712C>T (p.Asp1904=) c.5727C>T (p.Asp1909=) c.5301C>T (p.Asp1767=) | |
1 | g.169525905G>C | CA343124523 | F5 | c.5712C>G (p.Asp1904Glu) c.5727C>G (p.Asp1909Glu) c.5301C>G (p.Asp1767Glu) | |
1 | g.169525905G>T | CA343124525 | F5 | c.5712C>A (p.Asp1904Glu) c.5727C>A (p.Asp1909Glu) c.5301C>A (p.Asp1767Glu) | gnomAD v4 |
1 | g.169525906T>A | CA343124534 | F5 | c.5711A>T (p.Asp1904Val) c.5726A>T (p.Asp1909Val) c.5300A>T (p.Asp1767Val) | gnomAD v4 |
1 | g.169525906T>C | CA343124528 | F5 | c.5711A>G (p.Asp1904Gly) c.5726A>G (p.Asp1909Gly) c.5300A>G (p.Asp1767Gly) | |
1 | g.169525906T>G | CA343124532 | F5 | c.5711A>C (p.Asp1904Ala) c.5726A>C (p.Asp1909Ala) c.5300A>C (p.Asp1767Ala) | |
1 | g.169525907C>A | CA343124539 | F5 | c.5710G>T (p.Asp1904Tyr) c.5725G>T (p.Asp1909Tyr) c.5299G>T (p.Asp1767Tyr) | |
1 | g.169525907C= | CA1206133655 | F5 | c.5710G= (p.Asp1904=) c.5725G= (p.Asp1909=) c.5299G= (p.Asp1767=) | |
1 | g.169525907C>G | CA343124540 | F5 | c.5710G>C (p.Asp1904His) c.5725G>C (p.Asp1909His) c.5299G>C (p.Asp1767His) | |
1 | g.169525907C>T | CA343124543 | F5 | c.5710G>A (p.Asp1904Asn) c.5725G>A (p.Asp1909Asn) c.5299G>A (p.Asp1767Asn) | dbSNP gnomAD v4 |
1 | g.169525908C>A | CA343124545 | F5 | c.5709G>T (p.Met1903Ile) c.5724G>T (p.Met1908Ile) c.5298G>T (p.Met1766Ile) | gnomAD v4 |
1 | g.169525908C>G | CA343124548 | F5 | c.5709G>C (p.Met1903Ile) c.5724G>C (p.Met1908Ile) c.5298G>C (p.Met1766Ile) | |
1 | g.169525908C>T | CA343124550 | F5 | c.5709G>A (p.Met1903Ile) c.5724G>A (p.Met1908Ile) c.5298G>A (p.Met1766Ile) | |
1 | g.169525909A= | CA1206133656 | F5 | c.5708T= (p.Met1903=) c.5723T= (p.Met1908=) c.5297T= (p.Met1766=) | |
1 | g.169525909A>C | CA343124555 | F5 | c.5708T>G (p.Met1903Arg) c.5723T>G (p.Met1908Arg) c.5297T>G (p.Met1766Arg) | |
1 | g.169525909A>G | CA343124560 | F5 | c.5708T>C (p.Met1903Thr) c.5723T>C (p.Met1908Thr) c.5297T>C (p.Met1766Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169525909A>T | CA343124562 | F5 | c.5708T>A (p.Met1903Lys) c.5723T>A (p.Met1908Lys) c.5297T>A (p.Met1766Lys) | |
1 | g.169525910T>A | CA343124570 | F5 | c.5707A>T (p.Met1903Leu) c.5722A>T (p.Met1908Leu) c.5296A>T (p.Met1766Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169525910T>C | CA343124571 | F5 | c.5707A>G (p.Met1903Val) c.5722A>G (p.Met1908Val) c.5296A>G (p.Met1766Val) | gnomAD v4 |
1 | g.169525910T>G | CA343124572 | F5 | c.5707A>C (p.Met1903Leu) c.5722A>C (p.Met1908Leu) c.5296A>C (p.Met1766Leu) | gnomAD v4 |
1 | g.169525910T= | CA1206133658 | F5 | c.5707A= (p.Met1903=) c.5722A= (p.Met1908=) c.5296A= (p.Met1766=) | |
1 | g.169525911G>A | CA421735091 | F5 | c.5706C>T (p.Ile1902=) c.5721C>T (p.Ile1907=) c.5295C>T (p.Ile1765=) | |
1 | g.169525911G>C | CA343124575 | F5 | c.5706C>G (p.Ile1902Met) c.5721C>G (p.Ile1907Met) c.5295C>G (p.Ile1765Met) | |
1 | g.169525911G>T | CA421735092 | F5 | c.5706C>A (p.Ile1902=) c.5721C>A (p.Ile1907=) c.5295C>A (p.Ile1765=) | |
1 | g.169525912A>C | CA343124588 | F5 | c.5705T>G (p.Ile1902Ser) c.5720T>G (p.Ile1907Ser) c.5294T>G (p.Ile1765Ser) | |
1 | g.169525912A>G | CA343124580 | F5 | c.5705T>C (p.Ile1902Thr) c.5720T>C (p.Ile1907Thr) c.5294T>C (p.Ile1765Thr) | |
1 | g.169525912A>T | CA343124585 | F5 | c.5705T>A (p.Ile1902Asn) c.5720T>A (p.Ile1907Asn) c.5294T>A (p.Ile1765Asn) | |
1 | g.169525913T>A | CA343124591 | F5 | c.5704A>T (p.Ile1902Phe) c.5719A>T (p.Ile1907Phe) c.5293A>T (p.Ile1765Phe) | |
1 | g.169525913T>C | CA343124593 | F5 | c.5704A>G (p.Ile1902Val) c.5719A>G (p.Ile1907Val) c.5293A>G (p.Ile1765Val) | gnomAD v4 |
1 | g.169525913T>G | CA343124609 | F5 | c.5704A>C (p.Ile1902Leu) c.5719A>C (p.Ile1907Leu) c.5293A>C (p.Ile1765Leu) | |
1 | g.169525914A>C | CA421735093 | F5 | c.5703T>G (p.Leu1901=) c.5718T>G (p.Leu1906=) c.5292T>G (p.Leu1764=) | |
1 | g.169525914A>G | CA421735094 | F5 | c.5703T>C (p.Leu1901=) c.5718T>C (p.Leu1906=) c.5292T>C (p.Leu1764=) | |
1 | g.169525914A>T | CA421735095 | F5 | c.5703T>A (p.Leu1901=) c.5718T>A (p.Leu1906=) c.5292T>A (p.Leu1764=) | |
1 | g.169525915A>C | CA343124612 | F5 | c.5702T>G (p.Leu1901Arg) c.5717T>G (p.Leu1906Arg) c.5291T>G (p.Leu1764Arg) | |
1 | g.169525915A>G | CA343124614 | F5 | c.5702T>C (p.Leu1901Pro) c.5717T>C (p.Leu1906Pro) c.5291T>C (p.Leu1764Pro) | |
1 | g.169525915A>T | CA343124616 | F5 | c.5702T>A (p.Leu1901His) c.5717T>A (p.Leu1906His) c.5291T>A (p.Leu1764His) | |
1 | g.169525916G>A | CA343124619 | F5 | c.5701C>T (p.Leu1901Phe) c.5716C>T (p.Leu1906Phe) c.5290C>T (p.Leu1764Phe) | gnomAD v4 |
1 | g.169525916G>C | CA343124621 | F5 | c.5701C>G (p.Leu1901Val) c.5716C>G (p.Leu1906Val) c.5290C>G (p.Leu1764Val) | |
1 | g.169525916G>T | CA343124624 | F5 | c.5701C>A (p.Leu1901Ile) c.5716C>A (p.Leu1906Ile) c.5290C>A (p.Leu1764Ile) | COSMIC |
1 | g.169525917A>C | CA343124628 | F5 | c.5700T>G (p.Phe1900Leu) c.5715T>G (p.Phe1905Leu) c.5289T>G (p.Phe1763Leu) | |
1 | g.169525917A>G | CA421735096 | F5 | c.5700T>C (p.Phe1900=) c.5715T>C (p.Phe1905=) c.5289T>C (p.Phe1763=) | |
1 | g.169525917A>T | CA343124631 | F5 | c.5700T>A (p.Phe1900Leu) c.5715T>A (p.Phe1905Leu) c.5289T>A (p.Phe1763Leu) | |
1 | g.169525918A>C | CA343124652 | F5 | c.5699T>G (p.Phe1900Cys) c.5714T>G (p.Phe1905Cys) c.5288T>G (p.Phe1763Cys) | |
1 | g.169525918A>G | CA343124637 | F5 | c.5699T>C (p.Phe1900Ser) c.5714T>C (p.Phe1905Ser) c.5288T>C (p.Phe1763Ser) | |
1 | g.169525918A>T | CA343124650 | F5 | c.5699T>A (p.Phe1900Tyr) c.5714T>A (p.Phe1905Tyr) c.5288T>A (p.Phe1763Tyr) | |
1 | g.169525919A>C | CA343124658 | F5 | c.5698T>G (p.Phe1900Val) c.5713T>G (p.Phe1905Val) c.5287T>G (p.Phe1763Val) | |
1 | g.169525919A>G | CA343124661 | F5 | c.5698T>C (p.Phe1900Leu) c.5713T>C (p.Phe1905Leu) c.5287T>C (p.Phe1763Leu) | |
1 | g.169525919A>T | CA343124665 | F5 | c.5698T>A (p.Phe1900Ile) c.5713T>A (p.Phe1905Ile) c.5287T>A (p.Phe1763Ile) | |
1 | g.169525920T>A | CA421735097 | F5 | c.5697A>T (p.Pro1899=) c.5712A>T (p.Pro1904=) c.5286A>T (p.Pro1762=) | |
1 | g.169525920T>C | CA421735098 | F5 | c.5697A>G (p.Pro1899=) c.5712A>G (p.Pro1904=) c.5286A>G (p.Pro1762=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169525920T>G | CA421735099 | F5 | c.5697A>C (p.Pro1899=) c.5712A>C (p.Pro1904=) c.5286A>C (p.Pro1762=) | |
1 | g.169525920T= | CA1206133660 | F5 | c.5697A= (p.Pro1899=) c.5712A= (p.Pro1904=) c.5286A= (p.Pro1762=) | |
1 | g.169525921G>A | CA343124668 | F5 | c.5696C>T (p.Pro1899Leu) c.5711C>T (p.Pro1904Leu) c.5285C>T (p.Pro1762Leu) | |
1 | g.169525921G>C | CA343124670 | F5 | c.5696C>G (p.Pro1899Arg) c.5711C>G (p.Pro1904Arg) c.5285C>G (p.Pro1762Arg) | |
1 | g.169525921G>T | CA343124671 | F5 | c.5696C>A (p.Pro1899Gln) c.5711C>A (p.Pro1904Gln) c.5285C>A (p.Pro1762Gln) | |
1 | g.169525922_169525924del | CA2649034383 | F5 | c.5694_5696del (p.Pro1899del) c.5709_5711del (p.Pro1904del) c.5283_5285del (p.Pro1762del) | gnomAD v4 |
1 | g.169525922G>A | CA343124676 | F5 | c.5695C>T (p.Pro1899Ser) c.5710C>T (p.Pro1904Ser) c.5284C>T (p.Pro1762Ser) | gnomAD v4 |
1 | g.169525922G>C | CA343124679 | F5 | c.5695C>G (p.Pro1899Ala) c.5710C>G (p.Pro1904Ala) c.5284C>G (p.Pro1762Ala) | |
1 | g.169525922G>T | CA343124681 | F5 | c.5695C>A (p.Pro1899Thr) c.5710C>A (p.Pro1904Thr) c.5284C>A (p.Pro1762Thr) | |
1 | g.169525923C>A | CA421735100 | F5 | c.5694G>T (p.Thr1898=) c.5709G>T (p.Thr1903=) c.5283G>T (p.Thr1761=) | gnomAD v4 |
1 | g.169525923C= | CA1141274569 | F5 | c.5694G= (p.Thr1898=) c.5709G= (p.Thr1903=) c.5283G= (p.Thr1761=) | |
1 | g.169525923C>G | CA1233439 | F5 | c.5694G>C (p.Thr1898=) c.5709G>C (p.Thr1903=) c.5283G>C (p.Thr1761=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169525923C>T | CA1233438 | F5 | c.5694G>A (p.Thr1898=) c.5709G>A (p.Thr1903=) c.5283G>A (p.Thr1761=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169525924G>A | CA1233440 | F5 | c.5693C>T (p.Thr1898Met) c.5708C>T (p.Thr1903Met) c.5282C>T (p.Thr1761Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169525924G>C | CA343124696 | F5 | c.5693C>G (p.Thr1898Arg) c.5708C>G (p.Thr1903Arg) c.5282C>G (p.Thr1761Arg) | |
1 | g.169525924G= | CA1143556402 | F5 | c.5693C= (p.Thr1898=) c.5708C= (p.Thr1903=) c.5282C= (p.Thr1761=) | |
1 | g.169525924G>T | CA343124684 | F5 | c.5693C>A (p.Thr1898Lys) c.5708C>A (p.Thr1903Lys) c.5282C>A (p.Thr1761Lys) | |
1 | g.169525925T>A | CA343124699 | F5 | c.5692A>T (p.Thr1898Ser) c.5707A>T (p.Thr1903Ser) c.5281A>T (p.Thr1761Ser) | |
1 | g.169525925T>C | CA343124703 | F5 | c.5692A>G (p.Thr1898Ala) c.5707A>G (p.Thr1903Ala) c.5281A>G (p.Thr1761Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169525925T>G | CA343124701 | F5 | c.5692A>C (p.Thr1898Pro) c.5707A>C (p.Thr1903Pro) c.5281A>C (p.Thr1761Pro) | |
1 | g.169525925T= | CA1206133663 | F5 | c.5692A= (p.Thr1898=) c.5707A= (p.Thr1903=) c.5281A= (p.Thr1761=) | |
1 | g.169525926T>A | CA343124707 | F5 | c.5691A>T (p.Gln1897His) c.5706A>T (p.Gln1902His) c.5280A>T (p.Gln1760His) | |
1 | g.169525926T>C | CA421735101 | F5 | c.5691A>G (p.Gln1897=) c.5706A>G (p.Gln1902=) c.5280A>G (p.Gln1760=) | |
1 | g.169525926T>G | CA343124712 | F5 | c.5691A>C (p.Gln1897His) c.5706A>C (p.Gln1902His) c.5280A>C (p.Gln1760His) | COSMIC |
1 | g.169525927T>A | CA343124714 | F5 | c.5690A>T (p.Gln1897Leu) c.5705A>T (p.Gln1902Leu) c.5279A>T (p.Gln1760Leu) | |
1 | g.169525927T>C | CA343124728 | F5 | c.5690A>G (p.Gln1897Arg) c.5705A>G (p.Gln1902Arg) c.5279A>G (p.Gln1760Arg) | |
1 | g.169525927T>G | CA343124730 | F5 | c.5690A>C (p.Gln1897Pro) c.5705A>C (p.Gln1902Pro) c.5279A>C (p.Gln1760Pro) | |
1 | g.169525928G>A | CA343124733 | F5 | c.5689C>T (p.Gln1897Ter) c.5704C>T (p.Gln1902Ter) c.5278C>T (p.Gln1760Ter) | |
1 | g.169525928G>C | CA343124735 | F5 | c.5689C>G (p.Gln1897Glu) c.5704C>G (p.Gln1902Glu) c.5278C>G (p.Gln1760Glu) | |
1 | g.169525928G= | CA1206133665 | F5 | c.5689C= (p.Gln1897=) c.5704C= (p.Gln1902=) c.5278C= (p.Gln1760=) | |
1 | g.169525928G>T | CA343124740 | F5 | c.5689C>A (p.Gln1897Lys) c.5704C>A (p.Gln1902Lys) c.5278C>A (p.Gln1760Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169525929C>A | CA343124742 | F5 | c.5688G>T (p.Met1896Ile) c.5703G>T (p.Met1901Ile) c.5277G>T (p.Met1759Ile) | |
1 | g.169525929C= | CA1206133667 | F5 | c.5688G= (p.Met1896=) c.5703G= (p.Met1901=) c.5277G= (p.Met1759=) | |
1 | g.169525929C>G | CA343124744 | F5 | c.5688G>C (p.Met1896Ile) c.5703G>C (p.Met1901Ile) c.5277G>C (p.Met1759Ile) | |
1 | g.169525929C>T | CA1233441 | F5 | c.5688G>A (p.Met1896Ile) c.5703G>A (p.Met1901Ile) c.5277G>A (p.Met1759Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169525929_169525931delinsCAT | CA1206133668 | F5 | c.5686_5688delinsATG (p.Met1896=) c.5701_5703delinsATG (p.Met1901=) c.5275_5277delinsATG (p.Met1759=) | |
1 | g.169525930A>C | CA343124751 | F5 | c.5687T>G (p.Met1896Arg) c.5702T>G (p.Met1901Arg) c.5276T>G (p.Met1759Arg) | gnomAD v4 |
1 | g.169525930A>G | CA343124752 | F5 | c.5687T>C (p.Met1896Thr) c.5702T>C (p.Met1901Thr) c.5276T>C (p.Met1759Thr) | |
1 | g.169525930A>T | CA343124756 | F5 | c.5687T>A (p.Met1896Lys) c.5702T>A (p.Met1901Lys) c.5276T>A (p.Met1759Lys) | |
1 | g.169525930_169525931del | CA890921385 | F5 | c.5686_5687del (p.Met1896AlafsTer12) c.5701_5702del (p.Met1901AlafsTer12) c.5275_5276del (p.Met1759AlafsTer12) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169525931T>A | CA343124766 | F5 | c.5686A>T (p.Met1896Leu) c.5701A>T (p.Met1901Leu) c.5275A>T (p.Met1759Leu) | |
1 | g.169525931T>C | CA343124760 | F5 | c.5686A>G (p.Met1896Val) c.5701A>G (p.Met1901Val) c.5275A>G (p.Met1759Val) | gnomAD v4 |
1 | g.169525931T>G | CA343124763 | F5 | c.5686A>C (p.Met1896Leu) c.5701A>C (p.Met1901Leu) c.5275A>C (p.Met1759Leu) | |
1 | g.169525931_169525933delinsTCC | CA1206133671 | F5 | c.5684_5686delinsGGA (p.Gly1895=) c.5699_5701delinsGGA (p.Gly1900=) c.5273_5275delinsGGA (p.Gly1758=) | |
1 | g.169525932C>A | CA421735104 | F5 | c.5685G>T (p.Gly1895=) c.5700G>T (p.Gly1900=) c.5274G>T (p.Gly1758=) | |
1 | g.169525932C>G | CA421735103 | F5 | c.5685G>C (p.Gly1895=) c.5700G>C (p.Gly1900=) c.5274G>C (p.Gly1758=) | |
1 | g.169525932C>T | CA421735102 | F5 | c.5685G>A (p.Gly1895=) c.5700G>A (p.Gly1900=) c.5274G>A (p.Gly1758=) | |
1 | g.169525933_169525934del | CA526710480 | F5 | c.5684_5685del (p.Gly1895AspfsTer13) c.5699_5700del (p.Gly1900AspfsTer13) c.5273_5274del (p.Gly1758AspfsTer13) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169525933C>A | CA343124769 | F5 | c.5684G>T (p.Gly1895Val) c.5699G>T (p.Gly1900Val) c.5273G>T (p.Gly1758Val) | |
1 | g.169525933C>G | CA343124772 | F5 | c.5684G>C (p.Gly1895Ala) c.5699G>C (p.Gly1900Ala) c.5273G>C (p.Gly1758Ala) | |
1 | g.169525933C>T | CA343124774 | F5 | c.5684G>A (p.Gly1895Glu) c.5699G>A (p.Gly1900Glu) c.5273G>A (p.Gly1758Glu) | |
1 | g.169525934C>A | CA343124779 | F5 | c.5683G>T (p.Gly1895Trp) c.5698G>T (p.Gly1900Trp) c.5272G>T (p.Gly1758Trp) | |
1 | g.169525934C>G | CA343124781 | F5 | c.5683G>C (p.Gly1895Arg) c.5698G>C (p.Gly1900Arg) c.5272G>C (p.Gly1758Arg) | |
1 | g.169525934C>T | CA343124784 | F5 | c.5683G>A (p.Gly1895Arg) c.5698G>A (p.Gly1900Arg) c.5272G>A (p.Gly1758Arg) | |
1 | g.169525935T>A | CA421735107 | F5 | c.5682A>T (p.Ala1894=) c.5697A>T (p.Ala1899=) c.5271A>T (p.Ala1757=) | |
1 | g.169525935T>C | CA421735106 | F5 | c.5682A>G (p.Ala1894=) c.5697A>G (p.Ala1899=) c.5271A>G (p.Ala1757=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169525935T>G | CA421735105 | F5 | c.5682A>C (p.Ala1894=) c.5697A>C (p.Ala1899=) c.5271A>C (p.Ala1757=) | |
1 | g.169525935T= | CA1206133674 | F5 | c.5682A= (p.Ala1894=) c.5697A= (p.Ala1899=) c.5271A= (p.Ala1757=) | |
1 | g.169525936G>A | CA343124787 | F5 | c.5681C>T (p.Ala1894Val) c.5696C>T (p.Ala1899Val) c.5270C>T (p.Ala1757Val) | dbSNP |
1 | g.169525936G>C | CA343124789 | F5 | c.5681C>G (p.Ala1894Gly) c.5696C>G (p.Ala1899Gly) c.5270C>G (p.Ala1757Gly) | |
1 | g.169525936G= | CA1206133676 | F5 | c.5681C= (p.Ala1894=) c.5696C= (p.Ala1899=) c.5270C= (p.Ala1757=) | |
1 | g.169525936G>T | CA343124790 | F5 | c.5681C>A (p.Ala1894Glu) c.5696C>A (p.Ala1899Glu) c.5270C>A (p.Ala1757Glu) | |
1 | g.169525937C>A | CA343124792 | F5 | c.5680G>T (p.Ala1894Ser) c.5695G>T (p.Ala1899Ser) c.5269G>T (p.Ala1757Ser) | |
1 | g.169525937C= | CA1143573141 | F5 | c.5680G= (p.Ala1894=) c.5695G= (p.Ala1899=) c.5269G= (p.Ala1757=) | |
1 | g.169525937C>G | CA343124795 | F5 | c.5680G>C (p.Ala1894Pro) c.5695G>C (p.Ala1899Pro) c.5269G>C (p.Ala1757Pro) | |
1 | g.169525937C>T | CA1233442 | F5 | c.5680G>A (p.Ala1894Thr) c.5695G>A (p.Ala1899Thr) c.5269G>A (p.Ala1757Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169525938T>A | CA343124802 | F5 | c.5679A>T (p.Arg1893Ser) c.5694A>T (p.Arg1898Ser) c.5268A>T (p.Arg1756Ser) | |
1 | g.169525938T>C | CA421735108 | F5 | c.5679A>G (p.Arg1893=) c.5694A>G (p.Arg1898=) c.5268A>G (p.Arg1756=) | gnomAD v4 |
1 | g.169525938T>G | CA343124806 | F5 | c.5679A>C (p.Arg1893Ser) c.5694A>C (p.Arg1898Ser) c.5268A>C (p.Arg1756Ser) | |
1 | g.169525939C>A | CA343124809 | F5 | c.5678G>T (p.Arg1893Ile) c.5693G>T (p.Arg1898Ile) c.5267G>T (p.Arg1756Ile) | |
1 | g.169525939C= | CA1206133678 | F5 | c.5678G= (p.Arg1893=) c.5693G= (p.Arg1898=) c.5267G= (p.Arg1756=) | |
1 | g.169525939C>G | CA343124817 | F5 | c.5678G>C (p.Arg1893Thr) c.5693G>C (p.Arg1898Thr) c.5267G>C (p.Arg1756Thr) | gnomAD v4 |
1 | g.169525939C>T | CA32431786 | F5 | c.5678G>A (p.Arg1893Lys) c.5693G>A (p.Arg1898Lys) c.5267G>A (p.Arg1756Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169525940T>A | CA343124822 | F5 | c.5677A>T (p.Arg1893Ter) c.5692A>T (p.Arg1898Ter) c.5266A>T (p.Arg1756Ter) | |
1 | g.169525940T>C | CA343124823 | F5 | c.5677A>G (p.Arg1893Gly) c.5692A>G (p.Arg1898Gly) c.5266A>G (p.Arg1756Gly) | |
1 | g.169525940T>G | CA421735109 | F5 | c.5677A>C (p.Arg1893=) c.5692A>C (p.Arg1898=) c.5266A>C (p.Arg1756=) | |
1 | g.169525941C>A | CA343124824 | F5 | c.5676G>T (p.Gln1892His) c.5691G>T (p.Gln1897His) c.5265G>T (p.Gln1755His) | |
1 | g.169525941C= | CA1206133680 | F5 | c.5676G= (p.Gln1892=) c.5691G= (p.Gln1897=) c.5265G= (p.Gln1755=) | |
1 | g.169525941C>G | CA343124825 | F5 | c.5676G>C (p.Gln1892His) c.5691G>C (p.Gln1897His) c.5265G>C (p.Gln1755His) | |
1 | g.169525941C>T | CA1233443 | F5 | c.5676G>A (p.Gln1892=) c.5691G>A (p.Gln1897=) c.5265G>A (p.Gln1755=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169525942T>A | CA343124829 | F5 | c.5675A>T (p.Gln1892Leu) c.5690A>T (p.Gln1897Leu) c.5264A>T (p.Gln1755Leu) | |
1 | g.169525942T>C | CA343124836 | F5 | c.5675A>G (p.Gln1892Arg) c.5690A>G (p.Gln1897Arg) c.5264A>G (p.Gln1755Arg) | |
1 | g.169525942T>G | CA343124842 | F5 | c.5675A>C (p.Gln1892Pro) c.5690A>C (p.Gln1897Pro) c.5264A>C (p.Gln1755Pro) | |
1 | g.169525943G>A | CA343124845 | F5 | c.5674C>T (p.Gln1892Ter) c.5689C>T (p.Gln1897Ter) c.5263C>T (p.Gln1755Ter) | |
1 | g.169525943G>C | CA1233444 | F5 | c.5674C>G (p.Gln1892Glu) c.5689C>G (p.Gln1897Glu) c.5263C>G (p.Gln1755Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169525943G= | CA1206133682 | F5 | c.5674C= (p.Gln1892=) c.5689C= (p.Gln1897=) c.5263C= (p.Gln1755=) | |
1 | g.169525943G>T | CA343124846 | F5 | c.5674C>A (p.Gln1892Lys) c.5689C>A (p.Gln1897Lys) c.5263C>A (p.Gln1755Lys) | |
1 | g.169525944G>A | CA421735111 | F5 | c.5673C>T (p.Asn1891=) c.5688C>T (p.Asn1896=) c.5262C>T (p.Asn1754=) | gnomAD v4 COSMIC |
1 | g.169525944G>C | CA1233445 | F5 | c.5673C>G (p.Asn1891Lys) c.5688C>G (p.Asn1896Lys) c.5262C>G (p.Asn1754Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169525944G= | CA1206133684 | F5 | c.5673C= (p.Asn1891=) c.5688C= (p.Asn1896=) c.5262C= (p.Asn1754=) | |
1 | g.169525944G>T | CA343124849 | F5 | c.5673C>A (p.Asn1891Lys) c.5688C>A (p.Asn1896Lys) c.5262C>A (p.Asn1754Lys) | gnomAD v4 |
1 | g.169525945T>A | CA343124852 | F5 | c.5672A>T (p.Asn1891Ile) c.5687A>T (p.Asn1896Ile) c.5261A>T (p.Asn1754Ile) | |
1 | g.169525945T>C | CA343124854 | F5 | c.5672A>G (p.Asn1891Ser) c.5687A>G (p.Asn1896Ser) c.5261A>G (p.Asn1754Ser) | COSMIC |
1 | g.169525945T>G | CA343124862 | F5 | c.5672A>C (p.Asn1891Thr) c.5687A>C (p.Asn1896Thr) c.5261A>C (p.Asn1754Thr) | |
1 | g.169525948del | CA2649034433 | F5 | c.5672del (p.Asn1891ThrfsTer23) c.5687del (p.Asn1896ThrfsTer23) c.5261del (p.Asn1754ThrfsTer23) | gnomAD v4 |
1 | g.169525946T>A | CA343124865 | F5 | c.5671A>T (p.Asn1891Tyr) c.5686A>T (p.Asn1896Tyr) c.5260A>T (p.Asn1754Tyr) | |
1 | g.169525946T>C | CA343124868 | F5 | c.5671A>G (p.Asn1891Asp) c.5686A>G (p.Asn1896Asp) c.5260A>G (p.Asn1754Asp) | |
1 | g.169525946T>G | CA343124870 | F5 | c.5671A>C (p.Asn1891His) c.5686A>C (p.Asn1896His) c.5260A>C (p.Asn1754His) | |
1 | g.169525947T>A | CA343124871 | F5 | c.5670A>T (p.Glu1890Asp) c.5685A>T (p.Glu1895Asp) c.5259A>T (p.Glu1753Asp) | |
1 | g.169525947T>C | CA421735114 | F5 | c.5670A>G (p.Glu1890=) c.5685A>G (p.Glu1895=) c.5259A>G (p.Glu1753=) | |
1 | g.169525947T>G | CA343124872 | F5 | c.5670A>C (p.Glu1890Asp) c.5685A>C (p.Glu1895Asp) c.5259A>C (p.Glu1753Asp) | gnomAD v4 |
1 | g.169525948T>A | CA343124873 | F5 | c.5669A>T (p.Glu1890Val) c.5684A>T (p.Glu1895Val) c.5258A>T (p.Glu1753Val) | |
1 | g.169525948T>C | CA343124874 | F5 | c.5669A>G (p.Glu1890Gly) c.5684A>G (p.Glu1895Gly) c.5258A>G (p.Glu1753Gly) | |
1 | g.169525948T>G | CA343124877 | F5 | c.5669A>C (p.Glu1890Ala) c.5684A>C (p.Glu1895Ala) c.5258A>C (p.Glu1753Ala) | |
1 | g.169525949C>A | CA343124881 | F5 | c.5668G>T (p.Glu1890Ter) c.5683G>T (p.Glu1895Ter) c.5257G>T (p.Glu1753Ter) | |
1 | g.169525949C= | CA1144229039 | F5 | c.5668G= (p.Glu1890=) c.5683G= (p.Glu1895=) c.5257G= (p.Glu1753=) | |
1 | g.169525949C>G | CA343124880 | F5 | c.5668G>C (p.Glu1890Gln) c.5683G>C (p.Glu1895Gln) c.5257G>C (p.Glu1753Gln) | |
1 | g.169525949C>T | CA215974 | F5 | c.5668G>A (p.Glu1890Lys) c.5683G>A (p.Glu1895Lys) c.5257G>A (p.Glu1753Lys) | ClinVar dbSNP COSMIC |
1 | g.169525950T>A | CA421735116 | F5 | c.5667A>T (p.Gly1889=) c.5682A>T (p.Gly1894=) c.5256A>T (p.Gly1752=) | |
1 | g.169525950T>C | CA421735117 | F5 | c.5667A>G (p.Gly1889=) c.5682A>G (p.Gly1894=) c.5256A>G (p.Gly1752=) | |
1 | g.169525950T>G | CA421735118 | F5 | c.5667A>C (p.Gly1889=) c.5682A>C (p.Gly1894=) c.5256A>C (p.Gly1752=) | |
1 | g.169525951C>A | CA343124883 | F5 | c.5666G>T (p.Gly1889Val) c.5681G>T (p.Gly1894Val) c.5255G>T (p.Gly1752Val) | |
1 | g.169525951C>G | CA343124885 | F5 | c.5666G>C (p.Gly1889Ala) c.5681G>C (p.Gly1894Ala) c.5255G>C (p.Gly1752Ala) | |
1 | g.169525951C>T | CA343124884 | F5 | c.5666G>A (p.Gly1889Glu) c.5681G>A (p.Gly1894Glu) c.5255G>A (p.Gly1752Glu) | |
1 | g.169525952C>A | CA343124887 | F5 | c.5665G>T (p.Gly1889Ter) c.5680G>T (p.Gly1894Ter) c.5254G>T (p.Gly1752Ter) | |
1 | g.169525952C= | CA1206133688 | F5 | c.5665G= (p.Gly1889=) c.5680G= (p.Gly1894=) c.5254G= (p.Gly1752=) | |
1 | g.169525952C>G | CA343124890 | F5 | c.5665G>C (p.Gly1889Arg) c.5680G>C (p.Gly1894Arg) c.5254G>C (p.Gly1752Arg) | |
1 | g.169525952C>T | CA1233446 | F5 | c.5665G>A (p.Gly1889Arg) c.5680G>A (p.Gly1894Arg) c.5254G>A (p.Gly1752Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169525953A>C | CA421735119 | F5 | c.5664T>G (p.Val1888=) c.5679T>G (p.Val1893=) c.5253T>G (p.Val1751=) | |
1 | g.169525953A>G | CA421735121 | F5 | c.5664T>C (p.Val1888=) c.5679T>C (p.Val1893=) c.5253T>C (p.Val1751=) | |
1 | g.169525953A>T | CA421735120 | F5 | c.5664T>A (p.Val1888=) c.5679T>A (p.Val1893=) c.5253T>A (p.Val1751=) | |
1 | g.169525954A= | CA1206133690 | F5 | c.5663T= (p.Val1888=) c.5678T= (p.Val1893=) c.5252T= (p.Val1751=) | |
1 | g.169525954A>C | CA343124893 | F5 | c.5663T>G (p.Val1888Gly) c.5678T>G (p.Val1893Gly) c.5252T>G (p.Val1751Gly) | dbSNP |
1 | g.169525954A>G | CA343124895 | F5 | c.5663T>C (p.Val1888Ala) c.5678T>C (p.Val1893Ala) c.5252T>C (p.Val1751Ala) | |
1 | g.169525954A>T | CA343124897 | F5 | c.5663T>A (p.Val1888Asp) c.5678T>A (p.Val1893Asp) c.5252T>A (p.Val1751Asp) | |
1 | g.169525955C>A | CA343124905 | F5 | c.5662G>T (p.Val1888Phe) c.5677G>T (p.Val1893Phe) c.5251G>T (p.Val1751Phe) | gnomAD v4 |
1 | g.169525955C= | CA1206133692 | F5 | c.5662G= (p.Val1888=) c.5677G= (p.Val1893=) c.5251G= (p.Val1751=) | |
1 | g.169525955C>G | CA343124908 | F5 | c.5662G>C (p.Val1888Leu) c.5677G>C (p.Val1893Leu) c.5251G>C (p.Val1751Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169525955C>T | CA343124911 | F5 | c.5662G>A (p.Val1888Ile) c.5677G>A (p.Val1893Ile) c.5251G>A (p.Val1751Ile) | gnomAD v4 |
1 | g.169525956C>A | CA343124914 | F5 | c.5661G>T (p.Glu1887Asp) c.5676G>T (p.Glu1892Asp) c.5250G>T (p.Glu1750Asp) | |
1 | g.169525956C>G | CA343124917 | F5 | c.5661G>C (p.Glu1887Asp) c.5676G>C (p.Glu1892Asp) c.5250G>C (p.Glu1750Asp) | |
1 | g.169525956C>T | CA421735123 | F5 | c.5661G>A (p.Glu1887=) c.5676G>A (p.Glu1892=) c.5250G>A (p.Glu1750=) | |
1 | g.169525957T>A | CA343124924 | F5 | c.5660A>T (p.Glu1887Val) c.5675A>T (p.Glu1892Val) c.5249A>T (p.Glu1750Val) | |
1 | g.169525957T>C | CA343124922 | F5 | c.5660A>G (p.Glu1887Gly) c.5675A>G (p.Glu1892Gly) c.5249A>G (p.Glu1750Gly) | dbSNP |
1 | g.169525957T>G | CA343124920 | F5 | c.5660A>C (p.Glu1887Ala) c.5675A>C (p.Glu1892Ala) c.5249A>C (p.Glu1750Ala) | dbSNP |
1 | g.169525957T= | CA1206133694 | F5 | c.5660A= (p.Glu1887=) c.5675A= (p.Glu1892=) c.5249A= (p.Glu1750=) |