12 | g.52451469G>A | CA237194509 | KRT6B | c.540+70C>T (n.540+70C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451469G>C | CA689838498 | KRT6B | c.540+70C>G (n.540+70C>G)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451469G= | CA2036500452 | KRT6B | c.540+70C= (n.540+70C=)
| |
12 | g.52451469G>T | CA2618924924 | KRT6B | c.540+70C>A (n.540+70C>A)
| gnomAD v4 |
12 | g.52451470G= | CA2036500454 | KRT6B | c.540+69C= (n.540+69C=)
| |
12 | g.52451470G>T | CA237194516 | KRT6B | c.540+69C>A (n.540+69C>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451471C>G | CA2618924925 | KRT6B | c.540+68G>C (n.540+68G>C)
| gnomAD v4 |
12 | g.52451471C>T | CA2618924926 | KRT6B | c.540+68G>A (n.540+68G>A)
| gnomAD v4 |
12 | g.52451472A>G | CA2618924927 | KRT6B | c.540+67T>C (n.540+67T>C)
| gnomAD v4 |
12 | g.52451473G>A | CA237194529 | KRT6B | c.540+66C>T (n.540+66C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451473G= | CA2036500457 | KRT6B | c.540+66C= (n.540+66C=)
| |
12 | g.52451475A>C | CA2575164960 | KRT6B | c.540+64T>G (n.540+64T>G)
| gnomAD v4 |
12 | g.52451476A>G | CA2618924928 | KRT6B | c.540+63T>C (n.540+63T>C)
| gnomAD v4 |
12 | g.52451476_52451483dup | CA2596638441 | KRT6B | c.540+56_540+63dup (n.540+56_540+63dup)
| gnomAD v3 gnomAD v4 |
12 | g.52451477G>A | CA2036500464 | KRT6B | c.540+62C>T (n.540+62C>T)
| dbSNP |
12 | g.52451477G>C | CA237194532 | KRT6B | c.540+62C>G (n.540+62C>G)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451477G= | CA2036500462 | KRT6B | c.540+62C= (n.540+62C=)
| |
12 | g.52451477G>T | CA2618924929 | KRT6B | c.540+62C>A (n.540+62C>A)
| gnomAD v4 |
12 | g.52451478G>A | CA689838510 | KRT6B | c.540+61C>T (n.540+61C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451478G>C | CA237194534 | KRT6B | c.540+61C>G (n.540+61C>G)
| dbSNP gnomAD v4 |
12 | g.52451478G= | CA2036500468 | KRT6B | c.540+61C= (n.540+61C=)
| |
12 | g.52451478G>T | CA689838513 | KRT6B | c.540+61C>A (n.540+61C>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451479del | CA2575164961 | KRT6B | c.540+60del (n.540+60del)
| gnomAD v4 |
12 | g.52451480G>A | CA2575164962 | KRT6B | c.540+59C>T (n.540+59C>T)
| |
12 | g.52451480G>T | CA2618924930 | KRT6B | c.540+59C>A (n.540+59C>A)
| gnomAD v4 |
12 | g.52451481T>C | CA2618924931 | KRT6B | c.540+58A>G (n.540+58A>G)
| gnomAD v4 |
12 | g.52451481T>G | CA2795998577 | KRT6B | c.540+58A>C (n.540+58A>C)
| |
12 | g.52451482T>C | CA2618924932 | KRT6B | c.540+57A>G (n.540+57A>G)
| gnomAD v4 |
12 | g.52451483G>A | CA2795998578 | KRT6B | c.540+56C>T (n.540+56C>T)
| |
12 | g.52451483G>C | CA2618924933 | KRT6B | c.540+56C>G (n.540+56C>G)
| gnomAD v4 |
12 | g.52451484C= | CA2036500470 | KRT6B | c.540+55G= (n.540+55G=)
| |
12 | g.52451484C>T | CA947697741 | KRT6B | c.540+55G>A (n.540+55G>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451484_52451490del | CA2618924934 | KRT6B | c.540+49_540+55del (n.540+49_540+55del)
| gnomAD v4 |
12 | g.52451485T>C | CA2575164963 | KRT6B | c.540+54A>G (n.540+54A>G)
| gnomAD v4 |
12 | g.52451486C= | CA2036500473 | KRT6B | c.540+53G= (n.540+53G=)
| |
12 | g.52451486C>T | CA689838517 | KRT6B | c.540+53G>A (n.540+53G>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451487T>A | CA2581087264 | KRT6B | c.540+52A>T (n.540+52A>T)
| |
12 | g.52451487T>C | CA13687749 | KRT6B | c.540+52A>G (n.540+52A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451487T>G | CA2581087263 | KRT6B | c.540+52A>C (n.540+52A>C)
| |
12 | g.52451487T= | CA2036500476 | KRT6B | c.540+52A= (n.540+52A=)
| |
12 | g.52451488T>A | CA2618924935 | KRT6B | c.540+51A>T (n.540+51A>T)
| gnomAD v4 |
12 | g.52451489C>A | CA2618924936 | KRT6B | c.540+50G>T (n.540+50G>T)
| gnomAD v4 |
12 | g.52451489C= | CA2036500485 | KRT6B | c.540+50G= (n.540+50G=)
| |
12 | g.52451489C>G | CA6580803 | KRT6B | c.540+50G>C (n.540+50G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52451489C>T | CA2618924937 | KRT6B | c.540+50G>A (n.540+50G>A)
| gnomAD v4 |
12 | g.52451490T>C | CA2575164964 | KRT6B | c.540+49A>G (n.540+49A>G)
| gnomAD v4 |
12 | g.52451491G= | CA2036500488 | KRT6B | c.540+48C= (n.540+48C=)
| |
12 | g.52451491G>T | CA689838523 | KRT6B | c.540+48C>A (n.540+48C>A)
| dbSNP |
12 | g.52451492G>A | CA6580804 | KRT6B | c.540+47C>T (n.540+47C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451492G= | CA2036500491 | KRT6B | c.540+47C= (n.540+47C=)
| |
12 | g.52451493T>C | CA2036500493 | KRT6B | c.540+46A>G (n.540+46A>G)
| dbSNP |
12 | g.52451493T= | CA2036500492 | KRT6B | c.540+46A= (n.540+46A=)
| |
12 | g.52451494C= | CA2036500498 | KRT6B | c.540+45G= (n.540+45G=)
| |
12 | g.52451494C>T | CA6580805 | KRT6B | c.540+45G>A (n.540+45G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52451495T>G | CA2618924938 | KRT6B | c.540+44A>C (n.540+44A>C)
| gnomAD v4 |
12 | g.52451499del | CA2795998579 | KRT6B | c.540+43del (n.540+43del)
| |
12 | g.52451498_52451499del | CA2618924939 | KRT6B | c.540+42_540+43del (n.540+42_540+43del)
| gnomAD v4 |
12 | g.52451498G>A | CA2618924940 | KRT6B | c.540+41C>T (n.540+41C>T)
| gnomAD v4 |
12 | g.52451499G>A | CA689838527 | KRT6B | c.540+40C>T (n.540+40C>T)
| dbSNP |
12 | g.52451499G= | CA2036500500 | KRT6B | c.540+40C= (n.540+40C=)
| |
12 | g.52451500A= | CA2036500503 | KRT6B | c.540+39T= (n.540+39T=)
| |
12 | g.52451500A>T | CA2036500507 | KRT6B | c.540+39T>A (n.540+39T>A)
| dbSNP gnomAD v4 |
12 | g.52451501C>A | CA605068914 | KRT6B | c.540+38G>T (n.540+38G>T)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.52451501C= | CA2036500509 | KRT6B | c.540+38G= (n.540+38G=)
| |
12 | g.52451501C>T | CA2036500511 | KRT6B | c.540+38G>A (n.540+38G>A)
| dbSNP gnomAD v4 |
12 | g.52451502C>A | CA2618924941 | KRT6B | c.540+37G>T (n.540+37G>T)
| gnomAD v4 |
12 | g.52451502C= | CA2036500514 | KRT6B | c.540+37G= (n.540+37G=)
| |
12 | g.52451502C>T | CA605068915 | KRT6B | c.540+37G>A (n.540+37G>A)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.52451503C>A | CA605068916 | KRT6B | c.540+36G>T (n.540+36G>T)
| dbSNP gnomAD v2 |
12 | g.52451503C= | CA2036500516 | KRT6B | c.540+36G= (n.540+36G=)
| |
12 | g.52451503C>T | CA2618924942 | KRT6B | c.540+36G>A (n.540+36G>A)
| gnomAD v4 |
12 | g.52451504T>C | CA605068917 | KRT6B | c.540+35A>G (n.540+35A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451504T= | CA2036500519 | KRT6B | c.540+35A= (n.540+35A=)
| |
12 | g.52451505G>A | CA2618924943 | KRT6B | c.540+34C>T (n.540+34C>T)
| gnomAD v4 |
12 | g.52451507A= | CA2036500521 | KRT6B | c.540+32T= (n.540+32T=)
| |
12 | g.52451507A>G | CA6580806 | KRT6B | c.540+32T>C (n.540+32T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52451507A>T | CA947697747 | KRT6B | c.540+32T>A (n.540+32T>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451508G= | CA2036500523 | KRT6B | c.540+31C= (n.540+31C=)
| |
12 | g.52451508G>T | CA2036500524 | KRT6B | c.540+31C>A (n.540+31C>A)
| dbSNP |
12 | g.52451509T>A | CA2618924944 | KRT6B | c.540+30A>T (n.540+30A>T)
| gnomAD v4 |
12 | g.52451510G>A | CA2618924945 | KRT6B | c.540+29C>T (n.540+29C>T)
| gnomAD v4 |
12 | g.52451510G= | CA2036500526 | KRT6B | c.540+29C= (n.540+29C=)
| |
12 | g.52451510G>T | CA2036500528 | KRT6B | c.540+29C>A (n.540+29C>A)
| dbSNP |
12 | g.52451511C>A | CA605068918 | KRT6B | c.540+28G>T (n.540+28G>T)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.52451511C= | CA2036500531 | KRT6B | c.540+28G= (n.540+28G=)
| |
12 | g.52451511C>T | CA2036500534 | KRT6B | c.540+28G>A (n.540+28G>A)
| dbSNP gnomAD v4 |
12 | g.52451512C>A | CA2618924946 | KRT6B | c.540+27G>T (n.540+27G>T)
| gnomAD v4 |
12 | g.52451512C= | CA2036500536 | KRT6B | c.540+27G= (n.540+27G=)
| |
12 | g.52451512C>T | CA6580807 | KRT6B | c.540+27G>A (n.540+27G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52451513C>A | CA6580808 | KRT6B | c.540+26G>T (n.540+26G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451513C= | CA2036500540 | KRT6B | c.540+26G= (n.540+26G=)
| |
12 | g.52451513C>G | CA605068919 | KRT6B | c.540+26G>C (n.540+26G>C)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.52451513C>T | CA6580809 | KRT6B | c.540+26G>A (n.540+26G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52451514G>A | CA947697750 | KRT6B | c.540+25C>T (n.540+25C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451514G>C | CA6580810 | KRT6B | c.540+25C>G (n.540+25C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451514G= | CA2036500545 | KRT6B | c.540+25C= (n.540+25C=)
| |
12 | g.52451514G>T | CA2575164965 | KRT6B | c.540+25C>A (n.540+25C>A)
| gnomAD v4 |
12 | g.52451515A= | CA2036500551 | KRT6B | c.540+24T= (n.540+24T=)
| |
12 | g.52451515A>G | CA605068920 | KRT6B | c.540+24T>C (n.540+24T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451516T>C | CA605068921 | KRT6B | c.540+23A>G (n.540+23A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451516T>G | CA2795998580 | KRT6B | c.540+23A>C (n.540+23A>C)
| |
12 | g.52451516T= | CA2036500553 | KRT6B | c.540+23A= (n.540+23A=)
| |
12 | g.52451517G>A | CA237194606 | KRT6B | c.540+22C>T (n.540+22C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451517G= | CA2036500556 | KRT6B | c.540+22C= (n.540+22C=)
| |
12 | g.52451518G>C | CA2618924947 | KRT6B | c.540+21C>G (n.540+21C>G)
| gnomAD v4 |
12 | g.52451518G= | CA2036500560 | KRT6B | c.540+21C= (n.540+21C=)
| |
12 | g.52451518G>T | CA2036500561 | KRT6B | c.540+21C>A (n.540+21C>A)
| dbSNP gnomAD v4 |
12 | g.52451520G>A | CA2618924948 | KRT6B | c.540+19C>T (n.540+19C>T)
| gnomAD v4 |
12 | g.52451520G= | CA2036500564 | KRT6B | c.540+19C= (n.540+19C=)
| |
12 | g.52451520G>T | CA2036500565 | KRT6B | c.540+19C>A (n.540+19C>A)
| dbSNP gnomAD v4 |
12 | g.52451522G>A | CA6580812 | KRT6B | c.540+17C>T (n.540+17C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451522G= | CA2036500567 | KRT6B | c.540+17C= (n.540+17C=)
| |
12 | g.52451522G>T | CA6580811 | KRT6B | c.540+17C>A (n.540+17C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52451523C>A | CA689838565 | KRT6B | c.540+16G>T (n.540+16G>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451523C= | CA2036500574 | KRT6B | c.540+16G= (n.540+16G=)
| |
12 | g.52451523C>T | CA947697753 | KRT6B | c.540+16G>A (n.540+16G>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451524A>C | CA947697756 | KRT6B | c.540+15T>G (n.540+15T>G)
| gnomAD v3 gnomAD v4 |
12 | g.52451524A>G | CA2618924949 | KRT6B | c.540+15T>C (n.540+15T>C)
| gnomAD v4 |
12 | g.52451524A>T | CA2618924950 | KRT6B | c.540+15T>A (n.540+15T>A)
| gnomAD v4 |
12 | g.52451525T>C | CA2618924951 | KRT6B | c.540+14A>G (n.540+14A>G)
| gnomAD v4 |
12 | g.52451526G>A | CA689838566 | KRT6B | c.540+13C>T (n.540+13C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451526G= | CA2036500577 | KRT6B | c.540+13C= (n.540+13C=)
| |
12 | g.52451527G>A | CA2501563308 | KRT6B | c.540+12C>T (n.540+12C>T)
| gnomAD v4 |
12 | g.52451528C= | CA2036500579 | KRT6B | c.540+11G= (n.540+11G=)
| |
12 | g.52451528C>T | CA605068922 | KRT6B | c.540+11G>A (n.540+11G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451529A>G | CA2520358288 | KRT6B | c.540+10T>C (n.540+10T>C)
| |
12 | g.52451530C>G | CA2575164966 | KRT6B | c.540+9G>C (n.540+9G>C)
| |
12 | g.52451530C>T | CA2618924952 | KRT6B | c.540+9G>A (n.540+9G>A)
| gnomAD v4 |
12 | g.52451531T>C | CA2575164967 | KRT6B | c.540+8A>G (n.540+8A>G)
| gnomAD v4 |
12 | g.52451532G>A | CA2618924953 | KRT6B | c.540+7C>T (n.540+7C>T)
| gnomAD v4 |
12 | g.52451533G>A | CA605068923 | KRT6B | c.540+6C>T (n.540+6C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451533G= | CA2036500583 | KRT6B | c.540+6C= (n.540+6C=)
| |
12 | g.52451534C= | CA2036500585 | KRT6B | c.540+5G= (n.540+5G=)
| |
12 | g.52451534C>T | CA6580813 | KRT6B | c.540+5G>A (n.540+5G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52451536C= | CA2036500589 | KRT6B | c.540+3G= (n.540+3G=)
| |
12 | g.52451536C>T | CA6580814 | KRT6B | c.540+3G>A (n.540+3G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52451537A>C | CA384926143 | KRT6B | c.540+2T>G (n.540+2T>G)
| |
12 | g.52451537A>G | CA384926145 | KRT6B | c.540+2T>C (n.540+2T>C)
| |
12 | g.52451537A>T | CA384926147 | KRT6B | c.540+2T>A (n.540+2T>A)
| |
12 | g.52451538C>A | CA384926149 | KRT6B | c.540+1G>T (n.540+1G>T)
| |
12 | g.52451538C>G | CA384926150 | KRT6B | c.540+1G>C (n.540+1G>C)
| |
12 | g.52451538C>T | CA384926152 | KRT6B | c.540+1G>A (n.540+1G>A)
| gnomAD v4 |
12 | g.52451539C>A | CA384926154 | KRT6B | c.540G>T (p.Lys180Asn)
| |
12 | g.52451539C>G | CA384926156 | KRT6B | c.540G>C (p.Lys180Asn)
| |
12 | g.52451539C>T | CA479848092 | KRT6B | c.540G>A (p.Lys180=)
| |
12 | g.52451540T>A | CA384926157 | KRT6B | c.539A>T (p.Lys180Met)
| |
12 | g.52451540T>C | CA384926159 | KRT6B | c.539A>G (p.Lys180Arg)
| |
12 | g.52451540T>G | CA384926161 | KRT6B | c.539A>C (p.Lys180Thr)
| |
12 | g.52451541T>A | CA384926167 | KRT6B | c.538A>T (p.Lys180Ter)
| |
12 | g.52451541T>C | CA384926165 | KRT6B | c.538A>G (p.Lys180Glu)
| |
12 | g.52451541T>G | CA384926163 | KRT6B | c.538A>C (p.Lys180Gln)
| gnomAD v4 |
12 | g.52451542G>A | CA6580815 | KRT6B | c.537C>T (p.Asp179=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52451542G>C | CA384926170 | KRT6B | c.537C>G (p.Asp179Glu)
| gnomAD v4 |
12 | g.52451542G= | CA2036500593 | KRT6B | c.537C= (p.Asp179=)
| |
12 | g.52451542G>T | CA384926169 | KRT6B | c.537C>A (p.Asp179Glu)
| |
12 | g.52451543T>A | CA384926173 | KRT6B | c.536A>T (p.Asp179Val)
| |
12 | g.52451543T>C | CA384926175 | KRT6B | c.536A>G (p.Asp179Gly)
| |
12 | g.52451543T>G | CA384926176 | KRT6B | c.536A>C (p.Asp179Ala)
| |
12 | g.52451544C>A | CA384926179 | KRT6B | c.535G>T (p.Asp179Tyr)
| |
12 | g.52451544C= | CA2036500597 | KRT6B | c.535G= (p.Asp179=)
| |
12 | g.52451544C>G | CA384926180 | KRT6B | c.535G>C (p.Asp179His)
| |
12 | g.52451544C>T | CA384926182 | KRT6B | c.535G>A (p.Asp179Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451545G>A | CA6580816 | KRT6B | c.534C>T (p.Ile178=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.52451545G>C | CA384926185 | KRT6B | c.534C>G (p.Ile178Met)
| |
12 | g.52451545G= | CA2036500598 | KRT6B | c.534C= (p.Ile178=)
| |
12 | g.52451545G>T | CA479848096 | KRT6B | c.534C>A (p.Ile178=)
| |
12 | g.52451546A= | CA2036500605 | KRT6B | c.533T= (p.Ile178=)
| |
12 | g.52451546A>C | CA384926187 | KRT6B | c.533T>G (p.Ile178Ser)
| |
12 | g.52451546A>G | CA384926189 | KRT6B | c.533T>C (p.Ile178Thr)
| |
12 | g.52451546A>T | CA384926191 | KRT6B | c.533T>A (p.Ile178Asn)
| ClinVar dbSNP |
12 | g.52451547T>A | CA384926196 | KRT6B | c.532A>T (p.Ile178Phe)
| |
12 | g.52451547T>C | CA384926193 | KRT6B | c.532A>G (p.Ile178Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.52451547T>G | CA384926194 | KRT6B | c.532A>C (p.Ile178Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.52451547T= | CA2036500613 | KRT6B | c.532A= (p.Ile178=)
| |
12 | g.52451548G>A | CA479848098 | KRT6B | c.531C>T (p.Phe177=)
| |
12 | g.52451548G>C | CA384926198 | KRT6B | c.531C>G (p.Phe177Leu)
| |
12 | g.52451548G>T | CA384926199 | KRT6B | c.531C>A (p.Phe177Leu)
| |
12 | g.52451549_52451551del | CA2505635557 | KRT6B | c.529_531del (p.Phe177del)
| |
12 | g.52451549A>C | CA384926202 | KRT6B | c.530T>G (p.Phe177Cys)
| |
12 | g.52451549A>G | CA384926204 | KRT6B | c.530T>C (p.Phe177Ser)
| |
12 | g.52451549A>T | CA384926206 | KRT6B | c.530T>A (p.Phe177Tyr)
| |
12 | g.52451550A= | CA2036500615 | KRT6B | c.529T= (p.Phe177=)
| |
12 | g.52451550A>C | CA384926211 | KRT6B | c.529T>G (p.Phe177Val)
| dbSNP gnomAD v4 |
12 | g.52451550A>G | CA384926212 | KRT6B | c.529T>C (p.Phe177Leu)
| |
12 | g.52451550A>T | CA384926214 | KRT6B | c.529T>A (p.Phe177Ile)
| |
12 | g.52451551G>A | CA479848100 | KRT6B | c.528C>T (p.Ser176=)
| |
12 | g.52451551G>C | CA479848102 | KRT6B | c.528C>G (p.Ser176=)
| |
12 | g.52451551G>T | CA479848101 | KRT6B | c.528C>A (p.Ser176=)
| |
12 | g.52451552G>A | CA384926217 | KRT6B | c.527C>T (p.Ser176Phe)
| gnomAD v4 |
12 | g.52451552G>C | CA384926218 | KRT6B | c.527C>G (p.Ser176Cys)
| |
12 | g.52451552G>T | CA384926219 | KRT6B | c.527C>A (p.Ser176Tyr)
| |
12 | g.52451553A>C | CA384926222 | KRT6B | c.526T>G (p.Ser176Ala)
| |
12 | g.52451553A>G | CA384926224 | KRT6B | c.526T>C (p.Ser176Pro)
| |
12 | g.52451553A>T | CA384926220 | KRT6B | c.526T>A (p.Ser176Thr)
| |
12 | g.52451554G>A | CA479848106 | KRT6B | c.525C>T (p.Ala175=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.52451554G>C | CA479848107 | KRT6B | c.525C>G (p.Ala175=)
| |
12 | g.52451554G= | CA2036500619 | KRT6B | c.525C= (p.Ala175=)
| |
12 | g.52451554G>T | CA479848108 | KRT6B | c.525C>A (p.Ala175=)
| |
12 | g.52451555G>A | CA384926226 | KRT6B | c.524C>T (p.Ala175Val)
| |
12 | g.52451555G>C | CA384926227 | KRT6B | c.524C>G (p.Ala175Gly)
| |
12 | g.52451555G>T | CA384926228 | KRT6B | c.524C>A (p.Ala175Asp)
| |
12 | g.52451556C>A | CA384926229 | KRT6B | c.523G>T (p.Ala175Ser)
| gnomAD v4 |
12 | g.52451556C= | CA2036500624 | KRT6B | c.523G= (p.Ala175=)
| |
12 | g.52451556C>G | CA384926230 | KRT6B | c.523G>C (p.Ala175Pro)
| |
12 | g.52451556C>T | CA6580817 | KRT6B | c.523G>A (p.Ala175Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52451557A>C | CA384926235 | KRT6B | c.522T>G (p.Phe174Leu)
| |
12 | g.52451557A>G | CA479848112 | KRT6B | c.522T>C (p.Phe174=)
| gnomAD v4 |
12 | g.52451557A>T | CA384926233 | KRT6B | c.522T>A (p.Phe174Leu)
| |
12 | g.52451558A>C | CA384926237 | KRT6B | c.521T>G (p.Phe174Cys)
| |
12 | g.52451558A>G | CA384926239 | KRT6B | c.521T>C (p.Phe174Ser)
| |
12 | g.52451558A>T | CA384926241 | KRT6B | c.521T>A (p.Phe174Tyr)
| |
12 | g.52451559A>C | CA384926243 | KRT6B | c.520T>G (p.Phe174Val)
| |
12 | g.52451559A>G | CA384926245 | KRT6B | c.520T>C (p.Phe174Leu)
| |
12 | g.52451559A>T | CA384926247 | KRT6B | c.520T>A (p.Phe174Ile)
| |
12 | g.52451560C>A | CA384926249 | KRT6B | c.519G>T (p.Lys173Asn)
| |
12 | g.52451560C= | CA2036500625 | KRT6B | c.519G= (p.Lys173=)
| |
12 | g.52451560C>G | CA384926252 | KRT6B | c.519G>C (p.Lys173Asn)
| dbSNP gnomAD v4 |
12 | g.52451560C>T | CA237194666 | KRT6B | c.519G>A (p.Lys173=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.52451560_52451563delinsCTTG | CA2036500627 | KRT6B | c.516_519delinsCAAG (p.Asn172=)
| |
12 | g.52451561T>A | CA384926254 | KRT6B | c.518A>T (p.Lys173Met)
| |
12 | g.52451561T>C | CA384926257 | KRT6B | c.518A>G (p.Lys173Arg)
| |
12 | g.52451561T>G | CA384926259 | KRT6B | c.518A>C (p.Lys173Thr)
| gnomAD v4 |
12 | g.52451567_52451569del | CA217368 | KRT6B | c.516_518del (p.Asn172del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52451562T>A | CA384926261 | KRT6B | c.517A>T (p.Lys173Ter)
| |
12 | g.52451562T>C | CA384926263 | KRT6B | c.517A>G (p.Lys173Glu)
| |
12 | g.52451562T>G | CA384926265 | KRT6B | c.517A>C (p.Lys173Gln)
| |
12 | g.52451563G>A | CA479848117 | KRT6B | c.516C>T (p.Asn172=)
| gnomAD v4 |
12 | g.52451563G>C | CA384926267 | KRT6B | c.516C>G (p.Asn172Lys)
| gnomAD v4 |
12 | g.52451563G>T | CA384926269 | KRT6B | c.516C>A (p.Asn172Lys)
| gnomAD v4 |
12 | g.52451564T>A | CA384926271 | KRT6B | c.515A>T (p.Asn172Ile)
| |
12 | g.52451564T>C | CA384926272 | KRT6B | c.515A>G (p.Asn172Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.52451564T>G | CA384926275 | KRT6B | c.515A>C (p.Asn172Thr)
| |
12 | g.52451564T= | CA2036500637 | KRT6B | c.515A= (p.Asn172=)
| |
12 | g.52451565T>A | CA384926276 | KRT6B | c.514A>T (p.Asn172Tyr)
| |
12 | g.52451565T>C | CA384926280 | KRT6B | c.514A>G (p.Asn172Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451565T>G | CA384926278 | KRT6B | c.514A>C (p.Asn172His)
| |
12 | g.52451565T= | CA2036500640 | KRT6B | c.514A= (p.Asn172=)
| |
12 | g.52451566G>A | CA6580818 | KRT6B | c.513C>T (p.Asn171=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52451566G>C | CA384926285 | KRT6B | c.513C>G (p.Asn171Lys)
| |
12 | g.52451566G= | CA2036500643 | KRT6B | c.513C= (p.Asn171=)
| |
12 | g.52451566G>T | CA384926283 | KRT6B | c.513C>A (p.Asn171Lys)
| |
12 | g.52451567T>A | CA384926288 | KRT6B | c.512A>T (p.Asn171Ile)
| |
12 | g.52451567T>C | CA384926294 | KRT6B | c.512A>G (p.Asn171Ser)
| gnomAD v4 |
12 | g.52451567T>G | CA384926289 | KRT6B | c.512A>C (p.Asn171Thr)
| |
12 | g.52451568dup | CA2618924957 | KRT6B | c.512dup (p.Asn171LysfsTer?)
| gnomAD v4 |
12 | g.52451568T>A | CA384927014 | KRT6B | c.511A>T (p.Asn171Tyr)
| |
12 | g.52451568T>C | CA384927017 | KRT6B | c.511A>G (p.Asn171Asp)
| dbSNP gnomAD v2 |
12 | g.52451568T>G | CA384927020 | KRT6B | c.511A>C (p.Asn171His)
| |
12 | g.52451568T= | CA2036500645 | KRT6B | c.511A= (p.Asn171=)
| |
12 | g.52451569G>A | CA480067943 | KRT6B | c.510C>T (p.Leu170=)
| |
12 | g.52451569G>C | CA480067944 | KRT6B | c.510C>G (p.Leu170=)
| |
12 | g.52451569G>T | CA480067945 | KRT6B | c.510C>A (p.Leu170=)
| |