16 | g.88721165C>A | CA397089452 | PIEZO1 | c.5668+1G>T (n.5668+1G>T)
| dbSNP gnomAD v4 |
16 | g.88721165C= | CA2241246473 | PIEZO1 | c.5668+1G= (n.5668+1G=)
| |
16 | g.88721165C>G | CA397089448 | PIEZO1 | c.5668+1G>C (n.5668+1G>C)
| gnomAD v4 |
16 | g.88721165C>T | CA397089449 | PIEZO1 | c.5668+1G>A (n.5668+1G>A)
| gnomAD v4 |
16 | g.88721166del | CA2634863091 | PIEZO1 | c.5668+1del
| gnomAD v4 |
16 | g.88721166C>A | CA397089457 | PIEZO1 | c.5668G>T (p.Glu1890Ter)
| gnomAD v4 |
16 | g.88721166C= | CA2241246476 | PIEZO1 | c.5668G= (p.Glu1890=)
| |
16 | g.88721166C>G | CA397089462 | PIEZO1 | c.5668G>C (p.Glu1890Gln)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721166C>T | CA8231822 | PIEZO1 | c.5668G>A (p.Glu1890Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721167G>A | CA8231823 | PIEZO1 | c.5667C>T (p.Ile1889=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721167G>C | CA397089477 | PIEZO1 | c.5667C>G (p.Ile1889Met)
| gnomAD v4 |
16 | g.88721167G= | CA2241246482 | PIEZO1 | c.5667C= (p.Ile1889=)
| |
16 | g.88721167G>T | CA497364879 | PIEZO1 | c.5667C>A (p.Ile1889=)
| dbSNP gnomAD v4 |
16 | g.88721168A= | CA2241246486 | PIEZO1 | c.5666T= (p.Ile1889=)
| |
16 | g.88721168A>C | CA397089488 | PIEZO1 | c.5666T>G (p.Ile1889Ser)
| |
16 | g.88721168A>G | CA397089481 | PIEZO1 | c.5666T>C (p.Ile1889Thr)
| dbSNP gnomAD v4 |
16 | g.88721168A>T | CA397089485 | PIEZO1 | c.5666T>A (p.Ile1889Asn)
| dbSNP gnomAD v2 |
16 | g.88721169T>A | CA8231824 | PIEZO1 | c.5665A>T (p.Ile1889Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721169T>C | CA397089493 | PIEZO1 | c.5665A>G (p.Ile1889Val)
| |
16 | g.88721169T>G | CA397089498 | PIEZO1 | c.5665A>C (p.Ile1889Leu)
| |
16 | g.88721169T= | CA2241246492 | PIEZO1 | c.5665A= (p.Ile1889=)
| |
16 | g.88721170G>A | CA286409522 | PIEZO1 | c.5664C>T (p.Ala1888=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721170G>C | CA497364903 | PIEZO1 | c.5664C>G (p.Ala1888=)
| |
16 | g.88721170G= | CA2241246493 | PIEZO1 | c.5664C= (p.Ala1888=)
| |
16 | g.88721170G>T | CA497364905 | PIEZO1 | c.5664C>A (p.Ala1888=)
| |
16 | g.88721171G>A | CA286409523 | PIEZO1 | c.5663C>T (p.Ala1888Val)
| dbSNP gnomAD v4 |
16 | g.88721171G>C | CA397089503 | PIEZO1 | c.5663C>G (p.Ala1888Gly)
| |
16 | g.88721171G= | CA2241246495 | PIEZO1 | c.5663C= (p.Ala1888=)
| |
16 | g.88721171G>T | CA397089504 | PIEZO1 | c.5663C>A (p.Ala1888Asp)
| gnomAD v4 |
16 | g.88721172C>A | CA397089506 | PIEZO1 | c.5662G>T (p.Ala1888Ser)
| gnomAD v4 |
16 | g.88721172C>G | CA397089509 | PIEZO1 | c.5662G>C (p.Ala1888Pro)
| |
16 | g.88721172C>T | CA397089515 | PIEZO1 | c.5662G>A (p.Ala1888Thr)
| |
16 | g.88721173T>A | CA497364918 | PIEZO1 | c.5661A>T (p.Ala1887=)
| |
16 | g.88721173T>C | CA497364919 | PIEZO1 | c.5661A>G (p.Ala1887=)
| gnomAD v4 |
16 | g.88721173T>G | CA497364920 | PIEZO1 | c.5661A>C (p.Ala1887=)
| |
16 | g.88721174G>A | CA397089518 | PIEZO1 | c.5660C>T (p.Ala1887Val)
| dbSNP gnomAD v4 |
16 | g.88721174G>C | CA397089523 | PIEZO1 | c.5660C>G (p.Ala1887Gly)
| |
16 | g.88721174G= | CA2241246499 | PIEZO1 | c.5660C= (p.Ala1887=)
| |
16 | g.88721174G>T | CA397089526 | PIEZO1 | c.5660C>A (p.Ala1887Glu)
| gnomAD v4 |
16 | g.88721175C>A | CA397089528 | PIEZO1 | c.5659G>T (p.Ala1887Ser)
| gnomAD v4 |
16 | g.88721175C>G | CA397089536 | PIEZO1 | c.5659G>C (p.Ala1887Pro)
| gnomAD v4 |
16 | g.88721175C>T | CA397089530 | PIEZO1 | c.5659G>A (p.Ala1887Thr)
| |
16 | g.88721176C>A | CA497364932 | PIEZO1 | c.5658G>T (p.Ala1886=)
| dbSNP gnomAD v4 |
16 | g.88721176C= | CA2241246502 | PIEZO1 | c.5658G= (p.Ala1886=)
| |
16 | g.88721176C>G | CA286409524 | PIEZO1 | c.5658G>C (p.Ala1886=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721176C>T | CA497364935 | PIEZO1 | c.5658G>A (p.Ala1886=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721177G>A | CA397089540 | PIEZO1 | c.5657C>T (p.Ala1886Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.88721177G>C | CA397089543 | PIEZO1 | c.5657C>G (p.Ala1886Gly)
| |
16 | g.88721177G= | CA2241246506 | PIEZO1 | c.5657C= (p.Ala1886=)
| |
16 | g.88721177G>T | CA397089545 | PIEZO1 | c.5657C>A (p.Ala1886Glu)
| gnomAD v4 |
16 | g.88721177_88721178insT | CA2808066632 | PIEZO1 | c.5656_5657insA (p.Ala1886AspfsTer7)
| |
16 | g.88721178C>A | CA397089547 | PIEZO1 | c.5656G>T (p.Ala1886Ser)
| |
16 | g.88721178C= | CA2241246510 | PIEZO1 | c.5656G= (p.Ala1886=)
| |
16 | g.88721178C>G | CA397089548 | PIEZO1 | c.5656G>C (p.Ala1886Pro)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721178C>T | CA8231825 | PIEZO1 | c.5656G>A (p.Ala1886Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.88721179T>A | CA497364944 | PIEZO1 | c.5655A>T (p.Gly1885=)
| gnomAD v4 |
16 | g.88721179T>C | CA497364947 | PIEZO1 | c.5655A>G (p.Gly1885=)
| |
16 | g.88721179T>G | CA497364945 | PIEZO1 | c.5655A>C (p.Gly1885=)
| |
16 | g.88721180C>A | CA397089553 | PIEZO1 | c.5654G>T (p.Gly1885Val)
| gnomAD v4 |
16 | g.88721180C>G | CA397089556 | PIEZO1 | c.5654G>C (p.Gly1885Ala)
| |
16 | g.88721180C>T | CA397089564 | PIEZO1 | c.5654G>A (p.Gly1885Glu)
| |
16 | g.88721181C>A | CA397089568 | PIEZO1 | c.5653G>T (p.Gly1885Ter)
| gnomAD v4 |
16 | g.88721181C= | CA2241246514 | PIEZO1 | c.5653G= (p.Gly1885=)
| |
16 | g.88721181C>G | CA397089575 | PIEZO1 | c.5653G>C (p.Gly1885Arg)
| |
16 | g.88721181C>T | CA397089584 | PIEZO1 | c.5653G>A (p.Gly1885Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721182T>A | CA397089587 | PIEZO1 | c.5652A>T (p.Lys1884Asn)
| |
16 | g.88721182T>C | CA497364953 | PIEZO1 | c.5652A>G (p.Lys1884=)
| ClinVar gnomAD v4 |
16 | g.88721182T>G | CA286409525 | PIEZO1 | c.5652A>C (p.Lys1884Asn)
| dbSNP |
16 | g.88721182T= | CA2241246518 | PIEZO1 | c.5652A= (p.Lys1884=)
| |
16 | g.88721183T>A | CA397089597 | PIEZO1 | c.5651A>T (p.Lys1884Ile)
| |
16 | g.88721183T>C | CA397089600 | PIEZO1 | c.5651A>G (p.Lys1884Arg)
| |
16 | g.88721183T>G | CA397089602 | PIEZO1 | c.5651A>C (p.Lys1884Thr)
| |
16 | g.88721184T>A | CA397089607 | PIEZO1 | c.5650A>T (p.Lys1884Ter)
| gnomAD v4 |
16 | g.88721184T>C | CA15875696 | PIEZO1 | c.5650A>G (p.Lys1884Glu)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721184T>G | CA397089619 | PIEZO1 | c.5650A>C (p.Lys1884Gln)
| |
16 | g.88721184T= | CA2241246524 | PIEZO1 | c.5650A= (p.Lys1884=)
| |
16 | g.88721185C>A | CA497364959 | PIEZO1 | c.5649G>T (p.Arg1883=)
| gnomAD v4 |
16 | g.88721185C>G | CA497364963 | PIEZO1 | c.5649G>C (p.Arg1883=)
| |
16 | g.88721185C>T | CA497364961 | PIEZO1 | c.5649G>A (p.Arg1883=)
| |
16 | g.88721186C>A | CA397089622 | PIEZO1 | c.5648G>T (p.Arg1883Leu)
| gnomAD v4 |
16 | g.88721186C= | CA2241246526 | PIEZO1 | c.5648G= (p.Arg1883=)
| |
16 | g.88721186C>G | CA397089627 | PIEZO1 | c.5648G>C (p.Arg1883Pro)
| dbSNP gnomAD v4 |
16 | g.88721186C>T | CA8231826 | PIEZO1 | c.5648G>A (p.Arg1883Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721187G>A | CA8231827 | PIEZO1 | c.5647C>T (p.Arg1883Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721187G>C | CA397089638 | PIEZO1 | c.5647C>G (p.Arg1883Gly)
| gnomAD v4 |
16 | g.88721187G= | CA2241246530 | PIEZO1 | c.5647C= (p.Arg1883=)
| |
16 | g.88721187G>T | CA8231828 | PIEZO1 | c.5647C>A (p.Arg1883=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721188T>A | CA497364968 | PIEZO1 | c.5646A>T (p.Ala1882=)
| gnomAD v4 |
16 | g.88721188T>C | CA286409526 | PIEZO1 | c.5646A>G (p.Ala1882=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721188T>G | CA497364970 | PIEZO1 | c.5646A>C (p.Ala1882=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721188T= | CA2241246536 | PIEZO1 | c.5646A= (p.Ala1882=)
| |
16 | g.88721189G>A | CA397089650 | PIEZO1 | c.5645C>T (p.Ala1882Val)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721189G>C | CA397089652 | PIEZO1 | c.5645C>G (p.Ala1882Gly)
| |
16 | g.88721189G= | CA2241246539 | PIEZO1 | c.5645C= (p.Ala1882=)
| |
16 | g.88721189G>T | CA397089646 | PIEZO1 | c.5645C>A (p.Ala1882Glu)
| gnomAD v4 |
16 | g.88721190C>A | CA397089659 | PIEZO1 | c.5644G>T (p.Ala1882Ser)
| gnomAD v4 COSMIC |
16 | g.88721190C>G | CA397089655 | PIEZO1 | c.5644G>C (p.Ala1882Pro)
| gnomAD v4 |
16 | g.88721190C>T | CA397089663 | PIEZO1 | c.5644G>A (p.Ala1882Thr)
| gnomAD v4 |
16 | g.88721191T>A | CA497364978 | PIEZO1 | c.5643A>T (p.Pro1881=)
| |
16 | g.88721191T>C | CA497364979 | PIEZO1 | c.5643A>G (p.Pro1881=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721191T>G | CA497364980 | PIEZO1 | c.5643A>C (p.Pro1881=)
| |
16 | g.88721191T= | CA2241246543 | PIEZO1 | c.5643A= (p.Pro1881=)
| |
16 | g.88721192G>A | CA397089666 | PIEZO1 | c.5642C>T (p.Pro1881Leu)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721192G>C | CA397089670 | PIEZO1 | c.5642C>G (p.Pro1881Arg)
| |
16 | g.88721192G= | CA2241246547 | PIEZO1 | c.5642C= (p.Pro1881=)
| |
16 | g.88721192G>T | CA397089672 | PIEZO1 | c.5642C>A (p.Pro1881Gln)
| gnomAD v4 |
16 | g.88721194del | CA2634863247 | PIEZO1 | c.5642del (p.Pro1881GlnfsTer?)
| gnomAD v4 |
16 | g.88721193G>A | CA397089676 | PIEZO1 | c.5641C>T (p.Pro1881Ser)
| gnomAD v4 |
16 | g.88721193G>C | CA397089680 | PIEZO1 | c.5641C>G (p.Pro1881Ala)
| gnomAD v4 |
16 | g.88721193G= | CA2241246551 | PIEZO1 | c.5641C= (p.Pro1881=)
| |
16 | g.88721193G>T | CA286409527 | PIEZO1 | c.5641C>A (p.Pro1881Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721194G>A | CA497364991 | PIEZO1 | c.5640C>T (p.Gly1880=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721194G>C | CA497364987 | PIEZO1 | c.5640C>G (p.Gly1880=)
| |
16 | g.88721194G= | CA2241246554 | PIEZO1 | c.5640C= (p.Gly1880=)
| |
16 | g.88721194G>T | CA497364989 | PIEZO1 | c.5640C>A (p.Gly1880=)
| gnomAD v4 |
16 | g.88721195C>A | CA8231829 | PIEZO1 | c.5639G>T (p.Gly1880Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721195C= | CA2241246559 | PIEZO1 | c.5639G= (p.Gly1880=)
| |
16 | g.88721195C>G | CA397089683 | PIEZO1 | c.5639G>C (p.Gly1880Ala)
| gnomAD v4 |
16 | g.88721195C>T | CA397089684 | PIEZO1 | c.5639G>A (p.Gly1880Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721195_88721197del | CA2634863265 | PIEZO1 | c.5637_5639del (p.Glu1879_Gly1880delinsAsp)
| gnomAD v4 |
16 | g.88721195_88721198delinsCCCT | CA2241246557 | PIEZO1 | c.5636_5639delinsAGGG (p.Glu1879=)
| |
16 | g.88721196C>A | CA397089687 | PIEZO1 | c.5638G>T (p.Gly1880Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721196C= | CA2241246562 | PIEZO1 | c.5638G= (p.Gly1880=)
| |
16 | g.88721196C>G | CA397089694 | PIEZO1 | c.5638G>C (p.Gly1880Arg)
| gnomAD v4 |
16 | g.88721196C>T | CA397089697 | PIEZO1 | c.5638G>A (p.Gly1880Ser)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721199_88721201del | CA725602393 | PIEZO1 | c.5636_5638del (p.Glu1879del)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721197C>A | CA397089706 | PIEZO1 | c.5637G>T (p.Glu1879Asp)
| gnomAD v4 |
16 | g.88721197C= | CA2241246568 | PIEZO1 | c.5637G= (p.Glu1879=)
| |
16 | g.88721197C>G | CA397089707 | PIEZO1 | c.5637G>C (p.Glu1879Asp)
| |
16 | g.88721197C>T | CA497365000 | PIEZO1 | c.5637G>A (p.Glu1879=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721198del | CA2634863317 | PIEZO1 | c.5636del (p.Glu1879GlyfsTer?)
| gnomAD v4 |
16 | g.88721198T>A | CA397089708 | PIEZO1 | c.5636A>T (p.Glu1879Val)
| |
16 | g.88721198T>C | CA8231830 | PIEZO1 | c.5636A>G (p.Glu1879Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721198T>G | CA397089709 | PIEZO1 | c.5636A>C (p.Glu1879Ala)
| |
16 | g.88721198T= | CA2241246573 | PIEZO1 | c.5636A= (p.Glu1879=)
| |
16 | g.88721207_88721213dup | CA919766501 | PIEZO1 | c.5630_5636dup (p.Gly1880GlufsTer15)
| dbSNP gnomAD v4 |
16 | g.88721207_88721213del | CA914138901 | PIEZO1 | c.5630_5636del (p.Lys1877ArgfsTer?)
| gnomAD v2 gnomAD v4 |
16 | g.88721199C>A | CA397089710 | PIEZO1 | c.5635G>T (p.Glu1879Ter)
| |
16 | g.88721199C= | CA2742041241 | PIEZO1 | c.5635G= (p.Glu1879=)
| |
16 | g.88721199C>G | CA397089711 | PIEZO1 | c.5635G>C (p.Glu1879Gln)
| gnomAD v4 |
16 | g.88721199C>T | CA397089713 | PIEZO1 | c.5635G>A (p.Glu1879Lys)
| |
16 | g.88721199_88721202delinsCCTT | CA2241246578 | PIEZO1 | c.5632_5635delinsAAGG (p.Lys1878=)
| |
16 | g.88721199_88721200insA | CA2634863346 | PIEZO1 | c.5634_5635insT (p.Glu1879Ter)
| gnomAD v4 |
16 | g.88721200C>A | CA397089716 | PIEZO1 | c.5634G>T (p.Lys1878Asn)
| gnomAD v4 |
16 | g.88721200C>G | CA397089718 | PIEZO1 | c.5634G>C (p.Lys1878Asn)
| |
16 | g.88721200C>T | CA497365012 | PIEZO1 | c.5634G>A (p.Lys1878=)
| gnomAD v4 |
16 | g.88721200_88721201delinsCT | CA2241246589 | PIEZO1 | c.5633_5634delinsAG (p.Lys1878=)
| |
16 | g.88721204_88721206del | CA8231831 | PIEZO1 | c.5632_5634del (p.Lys1878del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.88721205_88721214del | CA2634863351 | PIEZO1 | c.5625_5634del (p.Lys1877AlafsTer?)
| gnomAD v4 |
16 | g.88721201T>A | CA397089725 | PIEZO1 | c.5633A>T (p.Lys1878Met)
| |
16 | g.88721201T>C | CA397089728 | PIEZO1 | c.5633A>G (p.Lys1878Arg)
| gnomAD v4 |
16 | g.88721201T>G | CA397089730 | PIEZO1 | c.5633A>C (p.Lys1878Thr)
| |
16 | g.88721201_88721202del | CA2634863369 | PIEZO1 | c.5632_5633del (p.Lys1878GlyfsTer14)
| gnomAD v4 |
16 | g.88721201_88721202delinsC | CA2573054283 | PIEZO1 | c.5632_5633delinsG (p.Lys1878GlyfsTer?)
| ClinVar dbSNP |
16 | g.88721202del | CA725602416 | PIEZO1 | c.5633del (p.Lys1878ArgfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721202_88721205del | CA2634863372 | PIEZO1 | c.5630_5633del (p.Lys1877ArgfsTer?)
| gnomAD v4 |
16 | g.88721202T>A | CA286409528 | PIEZO1 | c.5632A>T (p.Lys1878Ter)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721202T>C | CA8231832 | PIEZO1 | c.5632A>G (p.Lys1878Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721202T>G | CA397089746 | PIEZO1 | c.5632A>C (p.Lys1878Gln)
| |
16 | g.88721202T= | CA2241246595 | PIEZO1 | c.5632A= (p.Lys1878=)
| |
16 | g.88721202_88721206delinsTCTTC | CA2241246597 | PIEZO1 | c.5628_5632delinsGAAGA (p.Arg1876=)
| |
16 | g.88721203C>A | CA397089765 | PIEZO1 | c.5631G>T (p.Lys1877Asn)
| gnomAD v4 |
16 | g.88721203C= | CA2241246603 | PIEZO1 | c.5631G= (p.Lys1877=)
| |
16 | g.88721203C>G | CA397089769 | PIEZO1 | c.5631G>C (p.Lys1877Asn)
| |
16 | g.88721203C>T | CA497365023 | PIEZO1 | c.5631G>A (p.Lys1877=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721203dup | CA286409529 | PIEZO1 | c.5631dup (p.Lys1878GlufsTer15)
| dbSNP |
16 | g.88721203_88721209delinsCTTCCTT | CA2241246604 | PIEZO1 | c.5625_5631delinsAAGGAAG (p.Arg1875=)
| |
16 | g.88721207_88721210del | CA8231833 | PIEZO1 | c.5628_5631del (p.Lys1877ArgfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88721204T>A | CA397089777 | PIEZO1 | c.5630A>T (p.Lys1877Met)
| |
16 | g.88721204T>C | CA286409530 | PIEZO1 | c.5630A>G (p.Lys1877Arg)
| dbSNP |
16 | g.88721204T>G | CA397089782 | PIEZO1 | c.5630A>C (p.Lys1877Thr)
| |
16 | g.88721204T= | CA2241246607 | PIEZO1 | c.5630A= (p.Lys1877=)
| |
16 | g.88721205del | CA2634863389 | PIEZO1 | c.5630del (p.Lys1877ArgfsTer?)
| gnomAD v4 |
16 | g.88721204_88721209del | CA624448920 | PIEZO1 | c.5625_5630del (p.Arg1876_Lys1877del)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721205T>A | CA397089784 | PIEZO1 | c.5629A>T (p.Lys1877Ter)
| |
16 | g.88721205T>C | CA397089785 | PIEZO1 | c.5629A>G (p.Lys1877Glu)
| |
16 | g.88721205T>G | CA397089786 | PIEZO1 | c.5629A>C (p.Lys1877Gln)
| |
16 | g.88721206_88721208del | CA2634863394 | PIEZO1 | c.5627_5629del (p.Arg1876del)
| dbSNP gnomAD v4 |
16 | g.88721205_88721206insACC | CA2576092648 | PIEZO1 | c.5628_5629insGGT (p.Arg1876_Lys1877insGly)
| |
16 | g.88721206C>A | CA397089787 | PIEZO1 | c.5628G>T (p.Arg1876Ser)
| |
16 | g.88721206C>G | CA397089788 | PIEZO1 | c.5628G>C (p.Arg1876Ser)
| dbSNP gnomAD v2 gnomAD v3 |
16 | g.88721206C>T | CA497365032 | PIEZO1 | c.5628G>A (p.Arg1876=)
| gnomAD v4 |
16 | g.88721206_88721209delinsCCTT | CA2241246609 | PIEZO1 | c.5625_5628delinsAAGG (p.Arg1875=)
| |
16 | g.88721207C>A | CA286409531 | PIEZO1 | c.5627G>T (p.Arg1876Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721207C= | CA2241246613 | PIEZO1 | c.5627G= (p.Arg1876=)
| |
16 | g.88721207C>G | CA397089792 | PIEZO1 | c.5627G>C (p.Arg1876Thr)
| dbSNP gnomAD v4 |
16 | g.88721207C>T | CA8231834 | PIEZO1 | c.5627G>A (p.Arg1876Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721212_88721214del | CA497365039 | PIEZO1 | c.5625_5627del (p.Arg1876del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721208T>A | CA397089796 | PIEZO1 | c.5626A>T (p.Arg1876Trp)
| |
16 | g.88721208T>C | CA397089801 | PIEZO1 | c.5626A>G (p.Arg1876Gly)
| |
16 | g.88721208T>G | CA497365040 | PIEZO1 | c.5626A>C (p.Arg1876=)
| |
16 | g.88721209T>A | CA397089804 | PIEZO1 | c.5625A>T (p.Arg1875Ser)
| gnomAD v4 |
16 | g.88721209T>C | CA497365045 | PIEZO1 | c.5625A>G (p.Arg1875=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721209T>G | CA397089806 | PIEZO1 | c.5625A>C (p.Arg1875Ser)
| |
16 | g.88721209T= | CA2241246618 | PIEZO1 | c.5625A= (p.Arg1875=)
| |
16 | g.88721210C>A | CA286409532 | PIEZO1 | c.5624G>T (p.Arg1875Ile)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721210C= | CA2241246623 | PIEZO1 | c.5624G= (p.Arg1875=)
| |
16 | g.88721210C>G | CA397089818 | PIEZO1 | c.5624G>C (p.Arg1875Thr)
| |
16 | g.88721210C>T | CA397089820 | PIEZO1 | c.5624G>A (p.Arg1875Lys)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721210dup | CA980337870 | PIEZO1 | c.5624dup (p.Arg1876LysfsTer17)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721211T>A | CA397089828 | PIEZO1 | c.5623A>T (p.Arg1875Ter)
| |
16 | g.88721211T>C | CA397089830 | PIEZO1 | c.5623A>G (p.Arg1875Gly)
| |
16 | g.88721211T>G | CA497365050 | PIEZO1 | c.5623A>C (p.Arg1875=)
| gnomAD v4 |
16 | g.88721212T>A | CA397089834 | PIEZO1 | c.5622A>T (p.Arg1874Ser)
| |
16 | g.88721212T>C | CA497365051 | PIEZO1 | c.5622A>G (p.Arg1874=)
| dbSNP |
16 | g.88721212T>G | CA397089839 | PIEZO1 | c.5622A>C (p.Arg1874Ser)
| |
16 | g.88721212T= | CA2241246627 | PIEZO1 | c.5622A= (p.Arg1874=)
| |
16 | g.88721213C>A | CA397089846 | PIEZO1 | c.5621G>T (p.Arg1874Ile)
| gnomAD v4 |
16 | g.88721213C= | CA2241246629 | PIEZO1 | c.5621G= (p.Arg1874=)
| |
16 | g.88721213C>G | CA397089849 | PIEZO1 | c.5621G>C (p.Arg1874Thr)
| gnomAD v4 |
16 | g.88721213C>T | CA397089853 | PIEZO1 | c.5621G>A (p.Arg1874Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721214T>A | CA397089861 | PIEZO1 | c.5620A>T (p.Arg1874Ter)
| |
16 | g.88721214T>C | CA397089858 | PIEZO1 | c.5620A>G (p.Arg1874Gly)
| |
16 | g.88721214T>G | CA497365054 | PIEZO1 | c.5620A>C (p.Arg1874=)
| gnomAD v4 |
16 | g.88721215A= | CA2241246630 | PIEZO1 | c.5619T= (p.Phe1873=)
| |
16 | g.88721215A>C | CA397089865 | PIEZO1 | c.5619T>G (p.Phe1873Leu)
| |
16 | g.88721215A>G | CA497365058 | PIEZO1 | c.5619T>C (p.Phe1873=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721215A>T | CA397089868 | PIEZO1 | c.5619T>A (p.Phe1873Leu)
| |
16 | g.88721218del | CA2634863452 | PIEZO1 | c.5619del (p.Phe1873LeufsTer?)
| gnomAD v4 |
16 | g.88721217_88721218del | CA2634863457 | PIEZO1 | c.5618_5619del (p.Phe1873Ter)
| gnomAD v4 |
16 | g.88721216A>C | CA397089876 | PIEZO1 | c.5618T>G (p.Phe1873Cys)
| |
16 | g.88721216A>G | CA397089878 | PIEZO1 | c.5618T>C (p.Phe1873Ser)
| gnomAD v4 |
16 | g.88721216A>T | CA397089880 | PIEZO1 | c.5618T>A (p.Phe1873Tyr)
| |
16 | g.88721217A= | CA2241246638 | PIEZO1 | c.5617T= (p.Phe1873=)
| |
16 | g.88721217A>C | CA397089884 | PIEZO1 | c.5617T>G (p.Phe1873Val)
| |
16 | g.88721217A>G | CA8231836 | PIEZO1 | c.5617T>C (p.Phe1873Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721217A>T | CA8231835 | PIEZO1 | c.5617T>A (p.Phe1873Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721217_88721218insCGTGTG | CA980337884 | PIEZO1 | c.5616_5617insCACACG (p.Arg1872_Phe1873insHisThr)
| gnomAD v3 gnomAD v4 |
16 | g.88721217_88721218insCGTGTGAGTGCTCCCGTCTTGGAG | CA2634863472 | PIEZO1 | c.5616_5617insCTCCAAGACGGGAGCACTCACACG (p.Arg1872_Phe1873insLeuGlnAspGlySerThrHisThr)
| gnomAD v4 |
16 | g.88721218A= | CA2241246641 | PIEZO1 | c.5616T= (p.Arg1872=)
| |
16 | g.88721218A>C | CA497365063 | PIEZO1 | c.5616T>G (p.Arg1872=)
| |
16 | g.88721218A>G | CA497365062 | PIEZO1 | c.5616T>C (p.Arg1872=)
| |
16 | g.88721218A>T | CA497365060 | PIEZO1 | c.5616T>A (p.Arg1872=)
| |
16 | g.88721218_88721219insGTGCTCCCGTCTTGGAGACAGGATAGGTGGAGACAGACACGGACACCCACAGTGACGGGGGCCGTGTGGGGCCATGGGGCTCAGAGCCCATGTG | CA980337889 | PIEZO1 | c.5615_5616insCACATGGGCTCTGAGCCCCATGGCCCCACACGGCCCCCGTCACTGTGGGTGTCCGTGTCTGTCTCCACCTATCCTGTCTCCAAGACGGGAGCAC (p.Phe1873ThrfsTer33)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721219C>A | CA397089890 | PIEZO1 | c.5615G>T (p.Arg1872Leu)
| gnomAD v4 |
16 | g.88721219C= | CA2241246645 | PIEZO1 | c.5615G= (p.Arg1872=)
| |
16 | g.88721219C>G | CA397089892 | PIEZO1 | c.5615G>C (p.Arg1872Pro)
| |
16 | g.88721219C>T | CA286409533 | PIEZO1 | c.5615G>A (p.Arg1872His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721219_88721220insAGGATAG | CA2634863484 | PIEZO1 | c.5614_5615insCTATCCT (p.Arg1872ProfsTer5)
| gnomAD v4 |
16 | g.88721220G>A | CA286409534 | PIEZO1 | c.5614C>T (p.Arg1872Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721220G>C | CA397089903 | PIEZO1 | c.5614C>G (p.Arg1872Gly)
| |
16 | g.88721220G= | CA2241246650 | PIEZO1 | c.5614C= (p.Arg1872=)
| |
16 | g.88721220G>T | CA397089905 | PIEZO1 | c.5614C>A (p.Arg1872Ser)
| gnomAD v4 |
16 | g.88721221T>A | CA497365066 | PIEZO1 | c.5613A>T (p.Leu1871=)
| dbSNP |
16 | g.88721221T>C | CA497365068 | PIEZO1 | c.5613A>G (p.Leu1871=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721221T>G | CA497365069 | PIEZO1 | c.5613A>C (p.Leu1871=)
| |
16 | g.88721221T= | CA2241246652 | PIEZO1 | c.5613A= (p.Leu1871=)
| |
16 | g.88721222A>C | CA397089915 | PIEZO1 | c.5612T>G (p.Leu1871Arg)
| |
16 | g.88721222A>G | CA397089911 | PIEZO1 | c.5612T>C (p.Leu1871Pro)
| gnomAD v3 gnomAD v4 |
16 | g.88721222A>T | CA397089912 | PIEZO1 | c.5612T>A (p.Leu1871Gln)
| |
16 | g.88721223G>A | CA8231837 | PIEZO1 | c.5611C>T (p.Leu1871=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721223G>C | CA397089920 | PIEZO1 | c.5611C>G (p.Leu1871Val)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721223G= | CA2241246655 | PIEZO1 | c.5611C= (p.Leu1871=)
| |
16 | g.88721223G>T | CA397089923 | PIEZO1 | c.5611C>A (p.Leu1871Ile)
| gnomAD v4 |
16 | g.88721224A>C | CA397089926 | PIEZO1 | c.5610T>G (p.Ser1870Arg)
| gnomAD v4 |
16 | g.88721224A>G | CA497365072 | PIEZO1 | c.5610T>C (p.Ser1870=)
| |
16 | g.88721224A>T | CA397089929 | PIEZO1 | c.5610T>A (p.Ser1870Arg)
| |
16 | g.88721225C>A | CA397089933 | PIEZO1 | c.5609G>T (p.Ser1870Ile)
| |
16 | g.88721225C= | CA2241246657 | PIEZO1 | c.5609G= (p.Ser1870=)
| |
16 | g.88721225C>G | CA286409535 | PIEZO1 | c.5609G>C (p.Ser1870Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721225C>T | CA286409536 | PIEZO1 | c.5609G>A (p.Ser1870Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721226T>A | CA397089939 | PIEZO1 | c.5608A>T (p.Ser1870Cys)
| gnomAD v4 |
16 | g.88721226T>C | CA397089941 | PIEZO1 | c.5608A>G (p.Ser1870Gly)
| |
16 | g.88721226T>G | CA397089948 | PIEZO1 | c.5608A>C (p.Ser1870Arg)
| gnomAD v3 gnomAD v4 |
16 | g.88721227G>A | CA497365075 | PIEZO1 | c.5607C>T (p.Ile1869=)
| |
16 | g.88721227G>C | CA397089951 | PIEZO1 | c.5607C>G (p.Ile1869Met)
| |
16 | g.88721227G>T | CA497365076 | PIEZO1 | c.5607C>A (p.Ile1869=)
| gnomAD v4 |
16 | g.88721228A>C | CA397089957 | PIEZO1 | c.5606T>G (p.Ile1869Ser)
| |
16 | g.88721228A>G | CA397089960 | PIEZO1 | c.5606T>C (p.Ile1869Thr)
| |
16 | g.88721228A>T | CA397089954 | PIEZO1 | c.5606T>A (p.Ile1869Asn)
| |
16 | g.88721229T>A | CA397089963 | PIEZO1 | c.5605A>T (p.Ile1869Phe)
| |
16 | g.88721229T>C | CA397089967 | PIEZO1 | c.5605A>G (p.Ile1869Val)
| gnomAD v4 |
16 | g.88721229T>G | CA397089971 | PIEZO1 | c.5605A>C (p.Ile1869Leu)
| gnomAD v4 |
16 | g.88721230G>A | CA497365077 | PIEZO1 | c.5604C>T (p.Arg1868=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721230G>C | CA497365078 | PIEZO1 | c.5604C>G (p.Arg1868=)
| |
16 | g.88721230G= | CA2241246660 | PIEZO1 | c.5604C= (p.Arg1868=)
| |
16 | g.88721230G>T | CA497365079 | PIEZO1 | c.5604C>A (p.Arg1868=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721231C>A | CA397089977 | PIEZO1 | c.5603G>T (p.Arg1868Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721231C= | CA2241246662 | PIEZO1 | c.5603G= (p.Arg1868=)
| |
16 | g.88721231C>G | CA397089980 | PIEZO1 | c.5603G>C (p.Arg1868Pro)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721231C>T | CA8231838 | PIEZO1 | c.5603G>A (p.Arg1868His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721232G>A | CA8231839 | PIEZO1 | c.5602C>T (p.Arg1868Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.88721232G>C | CA397089986 | PIEZO1 | c.5602C>G (p.Arg1868Gly)
| ClinVar |
16 | g.88721232G= | CA2241246666 | PIEZO1 | c.5602C= (p.Arg1868=)
| |
16 | g.88721232G>T | CA397089988 | PIEZO1 | c.5602C>A (p.Arg1868Ser)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721233C>A | CA397089990 | PIEZO1 | c.5601G>T (p.Arg1867Ser)
| |
16 | g.88721233C>G | CA397089994 | PIEZO1 | c.5601G>C (p.Arg1867Ser)
| gnomAD v4 |
16 | g.88721233C>T | CA497365084 | PIEZO1 | c.5601G>A (p.Arg1867=)
| gnomAD v4 |
16 | g.88721234C>A | CA397089999 | PIEZO1 | c.5600G>T (p.Arg1867Met)
| gnomAD v4 |
16 | g.88721234C= | CA2241246667 | PIEZO1 | c.5600G= (p.Arg1867=)
| |
16 | g.88721234C>G | CA286409537 | PIEZO1 | c.5600G>C (p.Arg1867Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721234C>T | CA397090006 | PIEZO1 | c.5600G>A (p.Arg1867Lys)
| gnomAD v4 |
16 | g.88721235T>A | CA397090014 | PIEZO1 | c.5599A>T (p.Arg1867Trp)
| |
16 | g.88721235T>C | CA397090018 | PIEZO1 | c.5599A>G (p.Arg1867Gly)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721235T>G | CA497365086 | PIEZO1 | c.5599A>C (p.Arg1867=)
| gnomAD v4 |
16 | g.88721235T= | CA2241246668 | PIEZO1 | c.5599A= (p.Arg1867=)
| |
16 | g.88721236C>A | CA497365087 | PIEZO1 | c.5598G>T (p.Thr1866=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721236C= | CA2241246670 | PIEZO1 | c.5598G= (p.Thr1866=)
| |
16 | g.88721236C>G | CA286409538 | PIEZO1 | c.5598G>C (p.Thr1866=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721236C>T | CA497365088 | PIEZO1 | c.5598G>A (p.Thr1866=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721237G>A | CA397090022 | PIEZO1 | c.5597C>T (p.Thr1866Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721237G>C | CA397090024 | PIEZO1 | c.5597C>G (p.Thr1866Arg)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721237G= | CA2241246672 | PIEZO1 | c.5597C= (p.Thr1866=)
| |
16 | g.88721237G>T | CA397090025 | PIEZO1 | c.5597C>A (p.Thr1866Lys)
| gnomAD v4 COSMIC |
16 | g.88721238T>A | CA397090030 | PIEZO1 | c.5596A>T (p.Thr1866Ser)
| dbSNP gnomAD v4 |
16 | g.88721238T>C | CA397090033 | PIEZO1 | c.5596A>G (p.Thr1866Ala)
| |
16 | g.88721238T>G | CA397090036 | PIEZO1 | c.5596A>C (p.Thr1866Pro)
| |
16 | g.88721238T= | CA2241246674 | PIEZO1 | c.5596A= (p.Thr1866=)
| |
16 | g.88721238_88721239insG | CA2634863592 | PIEZO1 | c.5595_5596insC (p.Thr1866HisfsTer9)
| gnomAD v4 |
16 | g.88721238_88721239insGATACGAGGCGC | CA2634863593 | PIEZO1 | c.5595_5596insGCGCCTCGTATC (p.Asp1865_Thr1866insAlaProArgIle)
| gnomAD v4 |
16 | g.88721239A>C | CA397090042 | PIEZO1 | c.5595T>G (p.Asp1865Glu)
| |
16 | g.88721239A>G | CA497365093 | PIEZO1 | c.5595T>C (p.Asp1865=)
| gnomAD v4 |
16 | g.88721239A>T | CA397090045 | PIEZO1 | c.5595T>A (p.Asp1865Glu)
| |
16 | g.88721240T>A | CA397090048 | PIEZO1 | c.5594A>T (p.Asp1865Val)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721240T>C | CA397090056 | PIEZO1 | c.5594A>G (p.Asp1865Gly)
| |
16 | g.88721240T>G | CA397090059 | PIEZO1 | c.5594A>C (p.Asp1865Ala)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721240T= | CA2241246676 | PIEZO1 | c.5594A= (p.Asp1865=)
| |
16 | g.88721241del | CA2634863600 | PIEZO1 | c.5593del (p.Asp1865IlefsTer?)
| gnomAD v4 |
16 | g.88721241C>A | CA397090063 | PIEZO1 | c.5593G>T (p.Asp1865Tyr)
| |
16 | g.88721241C= | CA2241246678 | PIEZO1 | c.5593G= (p.Asp1865=)
| |
16 | g.88721241C>G | CA397090065 | PIEZO1 | c.5593G>C (p.Asp1865His)
| gnomAD v4 |
16 | g.88721241C>T | CA397090068 | PIEZO1 | c.5593G>A (p.Asp1865Asn)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721242A>C | CA497365096 | PIEZO1 | c.5592T>G (p.Arg1864=)
| |
16 | g.88721242A>G | CA497365094 | PIEZO1 | c.5592T>C (p.Arg1864=)
| gnomAD v4 |
16 | g.88721242A>T | CA497365095 | PIEZO1 | c.5592T>A (p.Arg1864=)
| gnomAD v4 |
16 | g.88721243C>A | CA397090085 | PIEZO1 | c.5591G>T (p.Arg1864Leu)
| gnomAD v4 |
16 | g.88721243C= | CA2241246679 | PIEZO1 | c.5591G= (p.Arg1864=)
| |
16 | g.88721243C>G | CA286409539 | PIEZO1 | c.5591G>C (p.Arg1864Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721243C>T | CA8231840 | PIEZO1 | c.5591G>A (p.Arg1864His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721244G>A | CA8231841 | PIEZO1 | c.5590C>T (p.Arg1864Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721244G>C | CA397090093 | PIEZO1 | c.5590C>G (p.Arg1864Gly)
| dbSNP |
16 | g.88721244G= | CA2241246681 | PIEZO1 | c.5590C= (p.Arg1864=)
| |
16 | g.88721244G>T | CA397090092 | PIEZO1 | c.5590C>A (p.Arg1864Ser)
| gnomAD v4 |
16 | g.88721247del | CA2634863626 | PIEZO1 | c.5590del (p.Arg1864ValfsTer?)
| gnomAD v4 |
16 | g.88721245G>A | CA497365098 | PIEZO1 | c.5589C>T (p.Pro1863=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721245G>C | CA497365101 | PIEZO1 | c.5589C>G (p.Pro1863=)
| dbSNP gnomAD v4 |
16 | g.88721245G= | CA2241246682 | PIEZO1 | c.5589C= (p.Pro1863=)
| |
16 | g.88721245G>T | CA497365099 | PIEZO1 | c.5589C>A (p.Pro1863=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721246G>A | CA397090095 | PIEZO1 | c.5588C>T (p.Pro1863Leu)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721246G>C | CA397090096 | PIEZO1 | c.5588C>G (p.Pro1863Arg)
| gnomAD v4 |
16 | g.88721246G= | CA2241246684 | PIEZO1 | c.5588C= (p.Pro1863=)
| |
16 | g.88721246G>T | CA397090098 | PIEZO1 | c.5588C>A (p.Pro1863His)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.88721247G>A | CA397090101 | PIEZO1 | c.5587C>T (p.Pro1863Ser)
| gnomAD v4 |
16 | g.88721247G>C | CA397090104 | PIEZO1 | c.5587C>G (p.Pro1863Ala)
| |
16 | g.88721247G= | CA2241246686 | PIEZO1 | c.5587C= (p.Pro1863=)
| |
16 | g.88721247G>T | CA397090109 | PIEZO1 | c.5587C>A (p.Pro1863Thr)
| dbSNP gnomAD v4 |
16 | g.88721248C>A | CA397090114 | PIEZO1 | c.5586G>T (p.Arg1862Ser)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721248C= | CA2241246688 | PIEZO1 | c.5586G= (p.Arg1862=)
| |
16 | g.88721248C>G | CA397090120 | PIEZO1 | c.5586G>C (p.Arg1862Ser)
| |
16 | g.88721248C>T | CA497365104 | PIEZO1 | c.5586G>A (p.Arg1862=)
| dbSNP gnomAD v4 |
16 | g.88721249C>A | CA397090122 | PIEZO1 | c.5585G>T (p.Arg1862Met)
| |
16 | g.88721249C= | CA2241246690 | PIEZO1 | c.5585G= (p.Arg1862=)
| |
16 | g.88721249C>G | CA397090123 | PIEZO1 | c.5585G>C (p.Arg1862Thr)
| |
16 | g.88721249C>T | CA397090125 | PIEZO1 | c.5585G>A (p.Arg1862Lys)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721249_88721252del | CA2634863672 | PIEZO1 | c.5582_5585del (p.Leu1861ArgfsTer?)
| gnomAD v4 |
16 | g.88721250T>A | CA397090128 | PIEZO1 | c.5584A>T (p.Arg1862Trp)
| gnomAD v4 |
16 | g.88721250T>C | CA397090132 | PIEZO1 | c.5584A>G (p.Arg1862Gly)
| gnomAD v4 |
16 | g.88721250T>G | CA497365108 | PIEZO1 | c.5584A>C (p.Arg1862=)
| gnomAD v4 |
16 | g.88721251G>A | CA497365109 | PIEZO1 | c.5583C>T (p.Leu1861=)
| |
16 | g.88721251G>C | CA497365110 | PIEZO1 | c.5583C>G (p.Leu1861=)
| gnomAD v4 |
16 | g.88721251G>T | CA497365111 | PIEZO1 | c.5583C>A (p.Leu1861=)
| gnomAD v4 |
16 | g.88721252A= | CA2241246691 | PIEZO1 | c.5582T= (p.Leu1861=)
| |
16 | g.88721252A>C | CA397090135 | PIEZO1 | c.5582T>G (p.Leu1861Arg)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721252A>G | CA397090137 | PIEZO1 | c.5582T>C (p.Leu1861Pro)
| |
16 | g.88721252A>T | CA397090136 | PIEZO1 | c.5582T>A (p.Leu1861His)
| |
16 | g.88721253G>A | CA397090138 | PIEZO1 | c.5581C>T (p.Leu1861Phe)
| gnomAD v4 |
16 | g.88721253G>C | CA397090139 | PIEZO1 | c.5581C>G (p.Leu1861Val)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721253G= | CA2241246693 | PIEZO1 | c.5581C= (p.Leu1861=)
| |
16 | g.88721253G>T | CA397090140 | PIEZO1 | c.5581C>A (p.Leu1861Ile)
| gnomAD v4 |
16 | g.88721254C>A | CA397090142 | PIEZO1 | c.5580G>T (p.Glu1860Asp)
| |
16 | g.88721254C>G | CA397090158 | PIEZO1 | c.5580G>C (p.Glu1860Asp)
| |
16 | g.88721254C>T | CA497365114 | PIEZO1 | c.5580G>A (p.Glu1860=)
| gnomAD v4 |
16 | g.88721255T>A | CA397090164 | PIEZO1 | c.5579A>T (p.Glu1860Val)
| |
16 | g.88721255T>C | CA397090175 | PIEZO1 | c.5579A>G (p.Glu1860Gly)
| dbSNP |
16 | g.88721255T>G | CA397090178 | PIEZO1 | c.5579A>C (p.Glu1860Ala)
| |
16 | g.88721255T= | CA2241246695 | PIEZO1 | c.5579A= (p.Glu1860=)
| |
16 | g.88721256C>A | CA397090182 | PIEZO1 | c.5578G>T (p.Glu1860Ter)
| gnomAD v4 |
16 | g.88721256C= | CA2241246697 | PIEZO1 | c.5578G= (p.Glu1860=)
| |
16 | g.88721256C>G | CA397090184 | PIEZO1 | c.5578G>C (p.Glu1860Gln)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721256C>T | CA397090196 | PIEZO1 | c.5578G>A (p.Glu1860Lys)
| gnomAD v4 |
16 | g.88721257C>A | CA497365115 | PIEZO1 | c.5577G>T (p.Val1859=)
| |
16 | g.88721257C>G | CA497365116 | PIEZO1 | c.5577G>C (p.Val1859=)
| |
16 | g.88721257C>T | CA497365118 | PIEZO1 | c.5577G>A (p.Val1859=)
| gnomAD v4 |
16 | g.88721258A= | CA2241246699 | PIEZO1 | c.5576T= (p.Val1859=)
| |
16 | g.88721258A>C | CA397090216 | PIEZO1 | c.5576T>G (p.Val1859Gly)
| dbSNP gnomAD v4 |
16 | g.88721258A>G | CA397090213 | PIEZO1 | c.5576T>C (p.Val1859Ala)
| gnomAD v4 |
16 | g.88721258A>T | CA397090201 | PIEZO1 | c.5576T>A (p.Val1859Glu)
| |
16 | g.88721259C>A | CA286409540 | PIEZO1 | c.5575G>T (p.Val1859Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721259C= | CA2241246701 | PIEZO1 | c.5575G= (p.Val1859=)
| |
16 | g.88721259C>G | CA397090236 | PIEZO1 | c.5575G>C (p.Val1859Leu)
| |
16 | g.88721259C>T | CA397090239 | PIEZO1 | c.5575G>A (p.Val1859Met)
| gnomAD v4 |
16 | g.88721260T>A | CA397090245 | PIEZO1 | c.5574A>T (p.Gln1858His)
| |
16 | g.88721260T>C | CA497365121 | PIEZO1 | c.5574A>G (p.Gln1858=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721260T>G | CA397090248 | PIEZO1 | c.5574A>C (p.Gln1858His)
| |
16 | g.88721260T= | CA2241246703 | PIEZO1 | c.5574A= (p.Gln1858=)
| |
16 | g.88721261T>A | CA397090252 | PIEZO1 | c.5573A>T (p.Gln1858Leu)
| |
16 | g.88721261T>C | CA397090253 | PIEZO1 | c.5573A>G (p.Gln1858Arg)
| |
16 | g.88721261T>G | CA397090268 | PIEZO1 | c.5573A>C (p.Gln1858Pro)
| |
16 | g.88721262G>A | CA397090272 | PIEZO1 | c.5572C>T (p.Gln1858Ter)
| gnomAD v4 |
16 | g.88721262G>C | CA397090274 | PIEZO1 | c.5572C>G (p.Gln1858Glu)
| dbSNP gnomAD v4 |
16 | g.88721262G= | CA2241246705 | PIEZO1 | c.5572C= (p.Gln1858=)
| |
16 | g.88721262G>T | CA397090277 | PIEZO1 | c.5572C>A (p.Gln1858Lys)
| gnomAD v4 |
16 | g.88721263G>A | CA497365123 | PIEZO1 | c.5571C>T (p.Pro1857=)
| |
16 | g.88721263G>C | CA497365124 | PIEZO1 | c.5571C>G (p.Pro1857=)
| |
16 | g.88721263G>T | CA497365125 | PIEZO1 | c.5571C>A (p.Pro1857=)
| gnomAD v4 |
16 | g.88721264G>A | CA397090279 | PIEZO1 | c.5570C>T (p.Pro1857Leu)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.88721264G>C | CA397090282 | PIEZO1 | c.5570C>G (p.Pro1857Arg)
| dbSNP |
16 | g.88721264G= | CA2241246706 | PIEZO1 | c.5570C= (p.Pro1857=)
| |
16 | g.88721264G>T | CA397090288 | PIEZO1 | c.5570C>A (p.Pro1857His)
| gnomAD v4 |
16 | g.88721265G>A | CA8231842 | PIEZO1 | c.5569C>T (p.Pro1857Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88721265G>C | CA397090299 | PIEZO1 | c.5569C>G (p.Pro1857Ala)
| dbSNP |
16 | g.88721265G= | CA2241246709 | PIEZO1 | c.5569C= (p.Pro1857=)
| |
16 | g.88721265G>T | CA397090291 | PIEZO1 | c.5569C>A (p.Pro1857Thr)
| gnomAD v4 |