Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.10705311T>C | CA2641008923 | PIEZO2 | c.5735+25A>G (n.5735+25A>G) c.5999+25A>G (n.5999+25A>G) c.5660+25A>G (n.5660+25A>G) c.5513+25A>G (n.5513+25A>G) c.5866+25A>G (n.5866+25A>G) c.5792+25A>G (n.5792+25A>G) c.5702+25A>G (n.5702+25A>G) c.5753+25A>G (n.5753+25A>G) n.6789+25A>G | gnomAD v4 |
18 | g.10705313T>A | CA2641008924 | PIEZO2 | c.5735+23A>T (n.5735+23A>T) c.5999+23A>T (n.5999+23A>T) c.5660+23A>T (n.5660+23A>T) c.5513+23A>T (n.5513+23A>T) c.5866+23A>T (n.5866+23A>T) c.5792+23A>T (n.5792+23A>T) c.5702+23A>T (n.5702+23A>T) c.5753+23A>T (n.5753+23A>T) n.6789+23A>T | gnomAD v4 |
18 | g.10705315A= | CA2284425210 | PIEZO2 | c.5735+21T= (n.5735+21T=) c.5999+21T= (n.5999+21T=) c.5660+21T= (n.5660+21T=) c.5513+21T= (n.5513+21T=) c.5866+21T= (n.5866+21T=) c.5792+21T= (n.5792+21T=) c.5702+21T= (n.5702+21T=) c.5753+21T= (n.5753+21T=) n.6789+21T= | |
18 | g.10705315A>G | CA295991172 | PIEZO2 | c.5735+21T>C (n.5735+21T>C) c.5999+21T>C (n.5999+21T>C) c.5660+21T>C (n.5660+21T>C) c.5513+21T>C (n.5513+21T>C) c.5866+21T>C (n.5866+21T>C) c.5792+21T>C (n.5792+21T>C) c.5702+21T>C (n.5702+21T>C) c.5753+21T>C (n.5753+21T>C) n.6789+21T>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10705316T>C | CA8892288 | PIEZO2 | c.5735+20A>G (n.5735+20A>G) c.5999+20A>G (n.5999+20A>G) c.5660+20A>G (n.5660+20A>G) c.5513+20A>G (n.5513+20A>G) c.5866+20A>G (n.5866+20A>G) c.5792+20A>G (n.5792+20A>G) c.5702+20A>G (n.5702+20A>G) c.5753+20A>G (n.5753+20A>G) n.6789+20A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.10705316T= | CA2284425211 | PIEZO2 | c.5735+20A= (n.5735+20A=) c.5999+20A= (n.5999+20A=) c.5660+20A= (n.5660+20A=) c.5513+20A= (n.5513+20A=) c.5866+20A= (n.5866+20A=) c.5792+20A= (n.5792+20A=) c.5702+20A= (n.5702+20A=) c.5753+20A= (n.5753+20A=) n.6789+20A= | |
18 | g.10705317C>A | CA2641008925 | PIEZO2 | c.5735+19G>T (n.5735+19G>T) c.5999+19G>T (n.5999+19G>T) c.5660+19G>T (n.5660+19G>T) c.5513+19G>T (n.5513+19G>T) c.5866+19G>T (n.5866+19G>T) c.5792+19G>T (n.5792+19G>T) c.5702+19G>T (n.5702+19G>T) c.5753+19G>T (n.5753+19G>T) n.6789+19G>T | gnomAD v4 |
18 | g.10705317C>G | CA2641008926 | PIEZO2 | c.5735+19G>C (n.5735+19G>C) c.5999+19G>C (n.5999+19G>C) c.5660+19G>C (n.5660+19G>C) c.5513+19G>C (n.5513+19G>C) c.5866+19G>C (n.5866+19G>C) c.5792+19G>C (n.5792+19G>C) c.5702+19G>C (n.5702+19G>C) c.5753+19G>C (n.5753+19G>C) n.6789+19G>C | gnomAD v4 |
18 | g.10705318T>C | CA2641008927 | PIEZO2 | c.5735+18A>G (n.5735+18A>G) c.5999+18A>G (n.5999+18A>G) c.5660+18A>G (n.5660+18A>G) c.5513+18A>G (n.5513+18A>G) c.5866+18A>G (n.5866+18A>G) c.5792+18A>G (n.5792+18A>G) c.5702+18A>G (n.5702+18A>G) c.5753+18A>G (n.5753+18A>G) n.6789+18A>G | gnomAD v4 |
18 | g.10705319G>A | CA295991185 | PIEZO2 | c.5735+17C>T (n.5735+17C>T) c.5999+17C>T (n.5999+17C>T) c.5660+17C>T (n.5660+17C>T) c.5513+17C>T (n.5513+17C>T) c.5866+17C>T (n.5866+17C>T) c.5792+17C>T (n.5792+17C>T) c.5702+17C>T (n.5702+17C>T) c.5753+17C>T (n.5753+17C>T) n.6789+17C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.10705319G= | CA2284425212 | PIEZO2 | c.5735+17C= (n.5735+17C=) c.5999+17C= (n.5999+17C=) c.5660+17C= (n.5660+17C=) c.5513+17C= (n.5513+17C=) c.5866+17C= (n.5866+17C=) c.5792+17C= (n.5792+17C=) c.5702+17C= (n.5702+17C=) c.5753+17C= (n.5753+17C=) n.6789+17C= | |
18 | g.10705320T>C | CA2734533651 | PIEZO2 | c.5735+16A>G (n.5735+16A>G) c.5999+16A>G (n.5999+16A>G) c.5660+16A>G (n.5660+16A>G) c.5513+16A>G (n.5513+16A>G) c.5866+16A>G (n.5866+16A>G) c.5792+16A>G (n.5792+16A>G) c.5702+16A>G (n.5702+16A>G) c.5753+16A>G (n.5753+16A>G) n.6789+16A>G | dbSNP |
18 | g.10705321T>C | CA2641008928 | PIEZO2 | c.5735+15A>G (n.5735+15A>G) c.5999+15A>G (n.5999+15A>G) c.5660+15A>G (n.5660+15A>G) c.5513+15A>G (n.5513+15A>G) c.5866+15A>G (n.5866+15A>G) c.5792+15A>G (n.5792+15A>G) c.5702+15A>G (n.5702+15A>G) c.5753+15A>G (n.5753+15A>G) n.6789+15A>G | gnomAD v4 |
18 | g.10705322C>A | CA2641008929 | PIEZO2 | c.5735+14G>T (n.5735+14G>T) c.5999+14G>T (n.5999+14G>T) c.5660+14G>T (n.5660+14G>T) c.5513+14G>T (n.5513+14G>T) c.5866+14G>T (n.5866+14G>T) c.5792+14G>T (n.5792+14G>T) c.5702+14G>T (n.5702+14G>T) c.5753+14G>T (n.5753+14G>T) n.6789+14G>T | gnomAD v4 |
18 | g.10705323A= | CA2284425213 | PIEZO2 | c.5735+13T= (n.5735+13T=) c.5999+13T= (n.5999+13T=) c.5660+13T= (n.5660+13T=) c.5513+13T= (n.5513+13T=) c.5866+13T= (n.5866+13T=) c.5792+13T= (n.5792+13T=) c.5702+13T= (n.5702+13T=) c.5753+13T= (n.5753+13T=) n.6789+13T= | |
18 | g.10705323A>C | CA776020237 | PIEZO2 | c.5735+13T>G (n.5735+13T>G) c.5999+13T>G (n.5999+13T>G) c.5660+13T>G (n.5660+13T>G) c.5513+13T>G (n.5513+13T>G) c.5866+13T>G (n.5866+13T>G) c.5792+13T>G (n.5792+13T>G) c.5702+13T>G (n.5702+13T>G) c.5753+13T>G (n.5753+13T>G) n.6789+13T>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10705324C>A | CA2641008930 | PIEZO2 | c.5735+12G>T (n.5735+12G>T) c.5999+12G>T (n.5999+12G>T) c.5660+12G>T (n.5660+12G>T) c.5513+12G>T (n.5513+12G>T) c.5866+12G>T (n.5866+12G>T) c.5792+12G>T (n.5792+12G>T) c.5702+12G>T (n.5702+12G>T) c.5753+12G>T (n.5753+12G>T) n.6789+12G>T | gnomAD v4 |
18 | g.10705324C= | CA2284425214 | PIEZO2 | c.5735+12G= (n.5735+12G=) c.5999+12G= (n.5999+12G=) c.5660+12G= (n.5660+12G=) c.5513+12G= (n.5513+12G=) c.5866+12G= (n.5866+12G=) c.5792+12G= (n.5792+12G=) c.5702+12G= (n.5702+12G=) c.5753+12G= (n.5753+12G=) n.6789+12G= | |
18 | g.10705324C>T | CA628485958 | PIEZO2 | c.5735+12G>A (n.5735+12G>A) c.5999+12G>A (n.5999+12G>A) c.5660+12G>A (n.5660+12G>A) c.5513+12G>A (n.5513+12G>A) c.5866+12G>A (n.5866+12G>A) c.5792+12G>A (n.5792+12G>A) c.5702+12G>A (n.5702+12G>A) c.5753+12G>A (n.5753+12G>A) n.6789+12G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10705325T>C | CA987798328 | PIEZO2 | c.5735+11A>G (n.5735+11A>G) c.5999+11A>G (n.5999+11A>G) c.5660+11A>G (n.5660+11A>G) c.5513+11A>G (n.5513+11A>G) c.5866+11A>G (n.5866+11A>G) c.5792+11A>G (n.5792+11A>G) c.5702+11A>G (n.5702+11A>G) c.5753+11A>G (n.5753+11A>G) n.6789+11A>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10705325T= | CA2284425215 | PIEZO2 | c.5735+11A= (n.5735+11A=) c.5999+11A= (n.5999+11A=) c.5660+11A= (n.5660+11A=) c.5513+11A= (n.5513+11A=) c.5866+11A= (n.5866+11A=) c.5792+11A= (n.5792+11A=) c.5702+11A= (n.5702+11A=) c.5753+11A= (n.5753+11A=) n.6789+11A= | |
18 | g.10705326G>A | CA628485959 | PIEZO2 | c.5735+10C>T (n.5735+10C>T) c.5999+10C>T (n.5999+10C>T) c.5660+10C>T (n.5660+10C>T) c.5513+10C>T (n.5513+10C>T) c.5866+10C>T (n.5866+10C>T) c.5792+10C>T (n.5792+10C>T) c.5702+10C>T (n.5702+10C>T) c.5753+10C>T (n.5753+10C>T) n.6789+10C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10705326G= | CA2284425216 | PIEZO2 | c.5735+10C= (n.5735+10C=) c.5999+10C= (n.5999+10C=) c.5660+10C= (n.5660+10C=) c.5513+10C= (n.5513+10C=) c.5866+10C= (n.5866+10C=) c.5792+10C= (n.5792+10C=) c.5702+10C= (n.5702+10C=) c.5753+10C= (n.5753+10C=) n.6789+10C= | |
18 | g.10705328A= | CA2284425217 | PIEZO2 | c.5735+8T= (n.5735+8T=) c.5999+8T= (n.5999+8T=) c.5660+8T= (n.5660+8T=) c.5513+8T= (n.5513+8T=) c.5866+8T= (n.5866+8T=) c.5792+8T= (n.5792+8T=) c.5702+8T= (n.5702+8T=) c.5753+8T= (n.5753+8T=) n.6789+8T= | |
18 | g.10705328A>G | CA2284425218 | PIEZO2 | c.5735+8T>C (n.5735+8T>C) c.5999+8T>C (n.5999+8T>C) c.5660+8T>C (n.5660+8T>C) c.5513+8T>C (n.5513+8T>C) c.5866+8T>C (n.5866+8T>C) c.5792+8T>C (n.5792+8T>C) c.5702+8T>C (n.5702+8T>C) c.5753+8T>C (n.5753+8T>C) n.6789+8T>C | dbSNP gnomAD v4 |
18 | g.10705329C>A | CA2641008932 | PIEZO2 | c.5735+7G>T (n.5735+7G>T) c.5999+7G>T (n.5999+7G>T) c.5660+7G>T (n.5660+7G>T) c.5513+7G>T (n.5513+7G>T) c.5866+7G>T (n.5866+7G>T) c.5792+7G>T (n.5792+7G>T) c.5702+7G>T (n.5702+7G>T) c.5753+7G>T (n.5753+7G>T) n.6789+7G>T | gnomAD v4 |
18 | g.10705329C= | CA2284425219 | PIEZO2 | c.5735+7G= (n.5735+7G=) c.5999+7G= (n.5999+7G=) c.5660+7G= (n.5660+7G=) c.5513+7G= (n.5513+7G=) c.5866+7G= (n.5866+7G=) c.5792+7G= (n.5792+7G=) c.5702+7G= (n.5702+7G=) c.5753+7G= (n.5753+7G=) n.6789+7G= | |
18 | g.10705329C>T | CA2284425220 | PIEZO2 | c.5735+7G>A (n.5735+7G>A) c.5999+7G>A (n.5999+7G>A) c.5660+7G>A (n.5660+7G>A) c.5513+7G>A (n.5513+7G>A) c.5866+7G>A (n.5866+7G>A) c.5792+7G>A (n.5792+7G>A) c.5702+7G>A (n.5702+7G>A) c.5753+7G>A (n.5753+7G>A) n.6789+7G>A | dbSNP gnomAD v4 |
18 | g.10705331del | CA2641008931 | PIEZO2 | c.5735+7del (n.5735+7del) c.5999+7del (n.5999+7del) c.5660+7del (n.5660+7del) c.5513+7del (n.5513+7del) c.5866+7del (n.5866+7del) c.5792+7del (n.5792+7del) c.5702+7del (n.5702+7del) c.5753+7del (n.5753+7del) n.6789+7del | gnomAD v4 |
18 | g.10705330C>A | CA2576456169 | PIEZO2 | c.5735+6G>T (n.5735+6G>T) c.5999+6G>T (n.5999+6G>T) c.5660+6G>T (n.5660+6G>T) c.5513+6G>T (n.5513+6G>T) c.5866+6G>T (n.5866+6G>T) c.5792+6G>T (n.5792+6G>T) c.5702+6G>T (n.5702+6G>T) c.5753+6G>T (n.5753+6G>T) n.6789+6G>T | |
18 | g.10705330C= | CA2284425221 | PIEZO2 | c.5735+6G= (n.5735+6G=) c.5999+6G= (n.5999+6G=) c.5660+6G= (n.5660+6G=) c.5513+6G= (n.5513+6G=) c.5866+6G= (n.5866+6G=) c.5792+6G= (n.5792+6G=) c.5702+6G= (n.5702+6G=) c.5753+6G= (n.5753+6G=) n.6789+6G= | |
18 | g.10705330C>G | CA295991187 | PIEZO2 | c.5735+6G>C (n.5735+6G>C) c.5999+6G>C (n.5999+6G>C) c.5660+6G>C (n.5660+6G>C) c.5513+6G>C (n.5513+6G>C) c.5866+6G>C (n.5866+6G>C) c.5792+6G>C (n.5792+6G>C) c.5702+6G>C (n.5702+6G>C) c.5753+6G>C (n.5753+6G>C) n.6789+6G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10705332T>G | CA2641008933 | PIEZO2 | c.5735+4A>C (n.5735+4A>C) c.5999+4A>C (n.5999+4A>C) c.5660+4A>C (n.5660+4A>C) c.5513+4A>C (n.5513+4A>C) c.5866+4A>C (n.5866+4A>C) c.5792+4A>C (n.5792+4A>C) c.5702+4A>C (n.5702+4A>C) c.5753+4A>C (n.5753+4A>C) n.6789+4A>C | gnomAD v4 |
18 | g.10705333T>C | CA2284425223 | PIEZO2 | c.5735+3A>G (n.5735+3A>G) c.5999+3A>G (n.5999+3A>G) c.5660+3A>G (n.5660+3A>G) c.5513+3A>G (n.5513+3A>G) c.5866+3A>G (n.5866+3A>G) c.5792+3A>G (n.5792+3A>G) c.5702+3A>G (n.5702+3A>G) c.5753+3A>G (n.5753+3A>G) n.6789+3A>G | dbSNP gnomAD v4 |
18 | g.10705333T= | CA2284425222 | PIEZO2 | c.5735+3A= (n.5735+3A=) c.5999+3A= (n.5999+3A=) c.5660+3A= (n.5660+3A=) c.5513+3A= (n.5513+3A=) c.5866+3A= (n.5866+3A=) c.5792+3A= (n.5792+3A=) c.5702+3A= (n.5702+3A=) c.5753+3A= (n.5753+3A=) n.6789+3A= | |
18 | g.10705334A>C | CA401910199 | PIEZO2 | c.5735+2T>G (n.5735+2T>G) c.5999+2T>G (n.5999+2T>G) c.5660+2T>G (n.5660+2T>G) c.5513+2T>G (n.5513+2T>G) c.5866+2T>G (n.5866+2T>G) c.5792+2T>G (n.5792+2T>G) c.5702+2T>G (n.5702+2T>G) c.5753+2T>G (n.5753+2T>G) n.6789+2T>G | |
18 | g.10705334A>G | CA401910198 | PIEZO2 | c.5735+2T>C (n.5735+2T>C) c.5999+2T>C (n.5999+2T>C) c.5660+2T>C (n.5660+2T>C) c.5513+2T>C (n.5513+2T>C) c.5866+2T>C (n.5866+2T>C) c.5792+2T>C (n.5792+2T>C) c.5702+2T>C (n.5702+2T>C) c.5753+2T>C (n.5753+2T>C) n.6789+2T>C | |
18 | g.10705334A>T | CA401910197 | PIEZO2 | c.5735+2T>A (n.5735+2T>A) c.5999+2T>A (n.5999+2T>A) c.5660+2T>A (n.5660+2T>A) c.5513+2T>A (n.5513+2T>A) c.5866+2T>A (n.5866+2T>A) c.5792+2T>A (n.5792+2T>A) c.5702+2T>A (n.5702+2T>A) c.5753+2T>A (n.5753+2T>A) n.6789+2T>A | |
18 | g.10705335C>A | CA401910200 | PIEZO2 | c.5735+1G>T (n.5735+1G>T) c.5999+1G>T (n.5999+1G>T) c.5660+1G>T (n.5660+1G>T) c.5513+1G>T (n.5513+1G>T) c.5866+1G>T (n.5866+1G>T) c.5792+1G>T (n.5792+1G>T) c.5702+1G>T (n.5702+1G>T) c.5753+1G>T (n.5753+1G>T) n.6789+1G>T | |
18 | g.10705335C>G | CA401910201 | PIEZO2 | c.5735+1G>C (n.5735+1G>C) c.5999+1G>C (n.5999+1G>C) c.5660+1G>C (n.5660+1G>C) c.5513+1G>C (n.5513+1G>C) c.5866+1G>C (n.5866+1G>C) c.5792+1G>C (n.5792+1G>C) c.5702+1G>C (n.5702+1G>C) c.5753+1G>C (n.5753+1G>C) n.6789+1G>C | |
18 | g.10705335C>T | CA401910202 | PIEZO2 | c.5735+1G>A (n.5735+1G>A) c.5999+1G>A (n.5999+1G>A) c.5660+1G>A (n.5660+1G>A) c.5513+1G>A (n.5513+1G>A) c.5866+1G>A (n.5866+1G>A) c.5792+1G>A (n.5792+1G>A) c.5702+1G>A (n.5702+1G>A) c.5753+1G>A (n.5753+1G>A) n.6789+1G>A | |
18 | g.10705336T>A | CA401910203 | PIEZO2 | c.5735A>T (p.Lys1912Met) c.743A>T c.5999A>T (p.Lys2000Met) c.5660A>T (p.Lys1887Met) c.5513A>T (p.Lys1838Met) c.5866A>T (n.5866A>T) c.5792A>T (p.Lys1931Met) c.5702A>T (p.Lys1901Met) c.5753A>T (p.Lys1918Met) n.6789A>T | |
18 | g.10705336T>C | CA401910204 | PIEZO2 | c.5735A>G (p.Lys1912Arg) c.743A>G c.5999A>G (p.Lys2000Arg) c.5660A>G (p.Lys1887Arg) c.5513A>G (p.Lys1838Arg) c.5866A>G (n.5866A>G) c.5792A>G (p.Lys1931Arg) c.5702A>G (p.Lys1901Arg) c.5753A>G (p.Lys1918Arg) n.6789A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10705336T>G | CA401910205 | PIEZO2 | c.5735A>C (p.Lys1912Thr) c.743A>C c.5999A>C (p.Lys2000Thr) c.5660A>C (p.Lys1887Thr) c.5513A>C (p.Lys1838Thr) c.5866A>C (n.5866A>C) c.5792A>C (p.Lys1931Thr) c.5702A>C (p.Lys1901Thr) c.5753A>C (p.Lys1918Thr) n.6789A>C | gnomAD v4 |
18 | g.10705336T= | CA2284425224 | PIEZO2 | c.5735A= (p.Lys1912=) c.743A= c.5999A= (p.Lys2000=) c.5660A= (p.Lys1887=) c.5513A= (p.Lys1838=) c.5866A= (n.5866A=) c.5792A= (p.Lys1931=) c.5702A= (p.Lys1901=) c.5753A= (p.Lys1918=) n.6789A= | |
18 | g.10705340dup | CA2576456170 | PIEZO2 | c.5735dup (p.Met1913AspfsTer6) c.5999dup (p.Met2001AspfsTer6) c.5660dup (p.Met1888AspfsTer6) c.5513dup (p.Met1839AspfsTer6) c.5866dup (n.5866dup) c.5792dup (p.Met1932AspfsTer6) c.5702dup (p.Met1902AspfsTer6) c.5753dup (p.Met1919AspfsTer6) n.6789dup | |
18 | g.10705337T>A | CA401910206 | PIEZO2 | c.5734A>T (p.Lys1912Ter) c.742A>T c.5998A>T (p.Lys2000Ter) c.5659A>T (p.Lys1887Ter) c.5512A>T (p.Lys1838Ter) c.5865A>T (n.5865A>T) c.5791A>T (p.Lys1931Ter) c.5701A>T (p.Lys1901Ter) c.5752A>T (p.Lys1918Ter) n.6788A>T | |
18 | g.10705337T>C | CA401910208 | PIEZO2 | c.5734A>G (p.Lys1912Glu) c.742A>G c.5998A>G (p.Lys2000Glu) c.5659A>G (p.Lys1887Glu) c.5512A>G (p.Lys1838Glu) c.5865A>G (n.5865A>G) c.5791A>G (p.Lys1931Glu) c.5701A>G (p.Lys1901Glu) c.5752A>G (p.Lys1918Glu) n.6788A>G | |
18 | g.10705337T>G | CA401910207 | PIEZO2 | c.5734A>C (p.Lys1912Gln) c.742A>C c.5998A>C (p.Lys2000Gln) c.5659A>C (p.Lys1887Gln) c.5512A>C (p.Lys1838Gln) c.5865A>C (n.5865A>C) c.5791A>C (p.Lys1931Gln) c.5701A>C (p.Lys1901Gln) c.5752A>C (p.Lys1918Gln) n.6788A>C | |
18 | g.10705338T>A | CA401910209 | PIEZO2 | c.5733A>T (p.Lys1911Asn) c.741A>T (p.Lys247Asn) c.5997A>T (p.Lys1999Asn) c.5658A>T (p.Lys1886Asn) c.5511A>T (p.Lys1837Asn) c.5864A>T (n.5864A>T) c.5790A>T (p.Lys1930Asn) c.5700A>T (p.Lys1900Asn) c.5751A>T (p.Lys1917Asn) n.6787A>T | |
18 | g.10705338T>C | CA503243131 | PIEZO2 | c.5733A>G (p.Lys1911=) c.741A>G (p.Lys247=) c.5997A>G (p.Lys1999=) c.5658A>G (p.Lys1886=) c.5511A>G (p.Lys1837=) c.5864A>G (n.5864A>G) c.5790A>G (p.Lys1930=) c.5700A>G (p.Lys1900=) c.5751A>G (p.Lys1917=) n.6787A>G | |
18 | g.10705338T>G | CA401910210 | PIEZO2 | c.5733A>C (p.Lys1911Asn) c.741A>C (p.Lys247Asn) c.5997A>C (p.Lys1999Asn) c.5658A>C (p.Lys1886Asn) c.5511A>C (p.Lys1837Asn) c.5864A>C (n.5864A>C) c.5790A>C (p.Lys1930Asn) c.5700A>C (p.Lys1900Asn) c.5751A>C (p.Lys1917Asn) n.6787A>C | |
18 | g.10705339T>A | CA401910211 | PIEZO2 | c.5732A>T (p.Lys1911Ile) c.740A>T (p.Lys247Ile) c.5996A>T (p.Lys1999Ile) c.5657A>T (p.Lys1886Ile) c.5510A>T (p.Lys1837Ile) c.5863A>T (n.5863A>T) c.5789A>T (p.Lys1930Ile) c.5699A>T (p.Lys1900Ile) c.5750A>T (p.Lys1917Ile) n.6786A>T | |
18 | g.10705339T>C | CA401910212 | PIEZO2 | c.5732A>G (p.Lys1911Arg) c.740A>G (p.Lys247Arg) c.5996A>G (p.Lys1999Arg) c.5657A>G (p.Lys1886Arg) c.5510A>G (p.Lys1837Arg) c.5863A>G (n.5863A>G) c.5789A>G (p.Lys1930Arg) c.5699A>G (p.Lys1900Arg) c.5750A>G (p.Lys1917Arg) n.6786A>G | |
18 | g.10705339T>G | CA401910213 | PIEZO2 | c.5732A>C (p.Lys1911Thr) c.740A>C (p.Lys247Thr) c.5996A>C (p.Lys1999Thr) c.5657A>C (p.Lys1886Thr) c.5510A>C (p.Lys1837Thr) c.5863A>C (n.5863A>C) c.5789A>C (p.Lys1930Thr) c.5699A>C (p.Lys1900Thr) c.5750A>C (p.Lys1917Thr) n.6786A>C | |
18 | g.10705340T>A | CA401910214 | PIEZO2 | c.5731A>T (p.Lys1911Ter) c.739A>T (p.Lys247Ter) c.5995A>T (p.Lys1999Ter) c.5656A>T (p.Lys1886Ter) c.5509A>T (p.Lys1837Ter) c.5862A>T (n.5862A>T) c.5788A>T (p.Lys1930Ter) c.5698A>T (p.Lys1900Ter) c.5749A>T (p.Lys1917Ter) n.6785A>T | |
18 | g.10705340T>C | CA401910215 | PIEZO2 | c.5731A>G (p.Lys1911Glu) c.739A>G (p.Lys247Glu) c.5995A>G (p.Lys1999Glu) c.5656A>G (p.Lys1886Glu) c.5509A>G (p.Lys1837Glu) c.5862A>G (n.5862A>G) c.5788A>G (p.Lys1930Glu) c.5698A>G (p.Lys1900Glu) c.5749A>G (p.Lys1917Glu) n.6785A>G | |
18 | g.10705340T>G | CA401910216 | PIEZO2 | c.5731A>C (p.Lys1911Gln) c.739A>C (p.Lys247Gln) c.5995A>C (p.Lys1999Gln) c.5656A>C (p.Lys1886Gln) c.5509A>C (p.Lys1837Gln) c.5862A>C (n.5862A>C) c.5788A>C (p.Lys1930Gln) c.5698A>C (p.Lys1900Gln) c.5749A>C (p.Lys1917Gln) n.6785A>C | |
18 | g.10705341C>A | CA503243132 | PIEZO2 | c.5730G>T (p.Leu1910=) c.738G>T (p.Leu246=) c.5994G>T (p.Leu1998=) c.5655G>T (p.Leu1885=) c.5508G>T (p.Leu1836=) c.5861G>T (n.5861G>T) c.5787G>T (p.Leu1929=) c.5697G>T (p.Leu1899=) c.5748G>T (p.Leu1916=) n.6784G>T | gnomAD v4 |
18 | g.10705341C>G | CA503243133 | PIEZO2 | c.5730G>C (p.Leu1910=) c.738G>C (p.Leu246=) c.5994G>C (p.Leu1998=) c.5655G>C (p.Leu1885=) c.5508G>C (p.Leu1836=) c.5861G>C (n.5861G>C) c.5787G>C (p.Leu1929=) c.5697G>C (p.Leu1899=) c.5748G>C (p.Leu1916=) n.6784G>C | |
18 | g.10705341C>T | CA503243134 | PIEZO2 | c.5730G>A (p.Leu1910=) c.738G>A (p.Leu246=) c.5994G>A (p.Leu1998=) c.5655G>A (p.Leu1885=) c.5508G>A (p.Leu1836=) c.5861G>A (n.5861G>A) c.5787G>A (p.Leu1929=) c.5697G>A (p.Leu1899=) c.5748G>A (p.Leu1916=) n.6784G>A | |
18 | g.10705342A>C | CA401910217 | PIEZO2 | c.5729T>G (p.Leu1910Arg) c.737T>G (p.Leu246Arg) c.5993T>G (p.Leu1998Arg) c.5654T>G (p.Leu1885Arg) c.5507T>G (p.Leu1836Arg) c.5860T>G (n.5860T>G) c.5786T>G (p.Leu1929Arg) c.5696T>G (p.Leu1899Arg) c.5747T>G (p.Leu1916Arg) n.6783T>G | |
18 | g.10705342A>G | CA401910218 | PIEZO2 | c.5729T>C (p.Leu1910Pro) c.737T>C (p.Leu246Pro) c.5993T>C (p.Leu1998Pro) c.5654T>C (p.Leu1885Pro) c.5507T>C (p.Leu1836Pro) c.5860T>C (n.5860T>C) c.5786T>C (p.Leu1929Pro) c.5696T>C (p.Leu1899Pro) c.5747T>C (p.Leu1916Pro) n.6783T>C | |
18 | g.10705342A>T | CA401910219 | PIEZO2 | c.5729T>A (p.Leu1910Gln) c.737T>A (p.Leu246Gln) c.5993T>A (p.Leu1998Gln) c.5654T>A (p.Leu1885Gln) c.5507T>A (p.Leu1836Gln) c.5860T>A (n.5860T>A) c.5786T>A (p.Leu1929Gln) c.5696T>A (p.Leu1899Gln) c.5747T>A (p.Leu1916Gln) n.6783T>A | |
18 | g.10705343G>A | CA503243135 | PIEZO2 | c.5728C>T (p.Leu1910=) c.736C>T (p.Leu246=) c.5992C>T (p.Leu1998=) c.5653C>T (p.Leu1885=) c.5506C>T (p.Leu1836=) c.5859C>T (n.5859C>T) c.5785C>T (p.Leu1929=) c.5695C>T (p.Leu1899=) c.5746C>T (p.Leu1916=) n.6782C>T | |
18 | g.10705343G>C | CA401910220 | PIEZO2 | c.5728C>G (p.Leu1910Val) c.736C>G (p.Leu246Val) c.5992C>G (p.Leu1998Val) c.5653C>G (p.Leu1885Val) c.5506C>G (p.Leu1836Val) c.5859C>G (n.5859C>G) c.5785C>G (p.Leu1929Val) c.5695C>G (p.Leu1899Val) c.5746C>G (p.Leu1916Val) n.6782C>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10705343G= | CA2284425225 | PIEZO2 | c.5728C= (p.Leu1910=) c.736C= (p.Leu246=) c.5992C= (p.Leu1998=) c.5653C= (p.Leu1885=) c.5506C= (p.Leu1836=) c.5859C= (n.5859C=) c.5785C= (p.Leu1929=) c.5695C= (p.Leu1899=) c.5746C= (p.Leu1916=) n.6782C= | |
18 | g.10705343G>T | CA401910221 | PIEZO2 | c.5728C>A (p.Leu1910Met) c.736C>A (p.Leu246Met) c.5992C>A (p.Leu1998Met) c.5653C>A (p.Leu1885Met) c.5506C>A (p.Leu1836Met) c.5859C>A (n.5859C>A) c.5785C>A (p.Leu1929Met) c.5695C>A (p.Leu1899Met) c.5746C>A (p.Leu1916Met) n.6782C>A | |
18 | g.10705344C>A | CA503243136 | PIEZO2 | c.5727G>T (p.Leu1909=) c.735G>T (p.Leu245=) c.5991G>T (p.Leu1997=) c.5652G>T (p.Leu1884=) c.5505G>T (p.Leu1835=) c.5858G>T (n.5858G>T) c.5784G>T (p.Leu1928=) c.5694G>T (p.Leu1898=) c.5745G>T (p.Leu1915=) n.6781G>T | gnomAD v4 |
18 | g.10705344C>G | CA503243137 | PIEZO2 | c.5727G>C (p.Leu1909=) c.735G>C (p.Leu245=) c.5991G>C (p.Leu1997=) c.5652G>C (p.Leu1884=) c.5505G>C (p.Leu1835=) c.5858G>C (n.5858G>C) c.5784G>C (p.Leu1928=) c.5694G>C (p.Leu1898=) c.5745G>C (p.Leu1915=) n.6781G>C | |
18 | g.10705344C>T | CA503243138 | PIEZO2 | c.5727G>A (p.Leu1909=) c.735G>A (p.Leu245=) c.5991G>A (p.Leu1997=) c.5652G>A (p.Leu1884=) c.5505G>A (p.Leu1835=) c.5858G>A (n.5858G>A) c.5784G>A (p.Leu1928=) c.5694G>A (p.Leu1898=) c.5745G>A (p.Leu1915=) n.6781G>A | |
18 | g.10705345A>C | CA401910222 | PIEZO2 | c.5726T>G (p.Leu1909Arg) c.734T>G (p.Leu245Arg) c.5990T>G (p.Leu1997Arg) c.5651T>G (p.Leu1884Arg) c.5504T>G (p.Leu1835Arg) c.5857T>G (n.5857T>G) c.5783T>G (p.Leu1928Arg) c.5693T>G (p.Leu1898Arg) c.5744T>G (p.Leu1915Arg) n.6780T>G | |
18 | g.10705345A>G | CA401910223 | PIEZO2 | c.5726T>C (p.Leu1909Pro) c.734T>C (p.Leu245Pro) c.5990T>C (p.Leu1997Pro) c.5651T>C (p.Leu1884Pro) c.5504T>C (p.Leu1835Pro) c.5857T>C (n.5857T>C) c.5783T>C (p.Leu1928Pro) c.5693T>C (p.Leu1898Pro) c.5744T>C (p.Leu1915Pro) n.6780T>C | gnomAD v4 |
18 | g.10705345A>T | CA401910224 | PIEZO2 | c.5726T>A (p.Leu1909Gln) c.734T>A (p.Leu245Gln) c.5990T>A (p.Leu1997Gln) c.5651T>A (p.Leu1884Gln) c.5504T>A (p.Leu1835Gln) c.5857T>A (n.5857T>A) c.5783T>A (p.Leu1928Gln) c.5693T>A (p.Leu1898Gln) c.5744T>A (p.Leu1915Gln) n.6780T>A | |
18 | g.10705346G>A | CA503243139 | PIEZO2 | c.5725C>T (p.Leu1909=) c.733C>T (p.Leu245=) c.5989C>T (p.Leu1997=) c.5650C>T (p.Leu1884=) c.5503C>T (p.Leu1835=) c.5856C>T (n.5856C>T) c.5782C>T (p.Leu1928=) c.5692C>T (p.Leu1898=) c.5743C>T (p.Leu1915=) n.6779C>T | |
18 | g.10705346G>C | CA401910225 | PIEZO2 | c.5725C>G (p.Leu1909Val) c.733C>G (p.Leu245Val) c.5989C>G (p.Leu1997Val) c.5650C>G (p.Leu1884Val) c.5503C>G (p.Leu1835Val) c.5856C>G (n.5856C>G) c.5782C>G (p.Leu1928Val) c.5692C>G (p.Leu1898Val) c.5743C>G (p.Leu1915Val) n.6779C>G | |
18 | g.10705346G>T | CA401910226 | PIEZO2 | c.5725C>A (p.Leu1909Met) c.733C>A (p.Leu245Met) c.5989C>A (p.Leu1997Met) c.5650C>A (p.Leu1884Met) c.5503C>A (p.Leu1835Met) c.5856C>A (n.5856C>A) c.5782C>A (p.Leu1928Met) c.5692C>A (p.Leu1898Met) c.5743C>A (p.Leu1915Met) n.6779C>A | |
18 | g.10705347C>A | CA503243140 | PIEZO2 | c.5724G>T (p.Leu1908=) c.732G>T (p.Leu244=) c.5988G>T (p.Leu1996=) c.5649G>T (p.Leu1883=) c.5502G>T (p.Leu1834=) c.5855G>T (n.5855G>T) c.5781G>T (p.Leu1927=) c.5691G>T (p.Leu1897=) c.5742G>T (p.Leu1914=) n.6778G>T | gnomAD v4 |
18 | g.10705347C>G | CA503243141 | PIEZO2 | c.5724G>C (p.Leu1908=) c.732G>C (p.Leu244=) c.5988G>C (p.Leu1996=) c.5649G>C (p.Leu1883=) c.5502G>C (p.Leu1834=) c.5855G>C (n.5855G>C) c.5781G>C (p.Leu1927=) c.5691G>C (p.Leu1897=) c.5742G>C (p.Leu1914=) n.6778G>C | |
18 | g.10705347C>T | CA503243142 | PIEZO2 | c.5724G>A (p.Leu1908=) c.732G>A (p.Leu244=) c.5988G>A (p.Leu1996=) c.5649G>A (p.Leu1883=) c.5502G>A (p.Leu1834=) c.5855G>A (n.5855G>A) c.5781G>A (p.Leu1927=) c.5691G>A (p.Leu1897=) c.5742G>A (p.Leu1914=) n.6778G>A | |
18 | g.10705348A>C | CA401910227 | PIEZO2 | c.5723T>G (p.Leu1908Arg) c.731T>G (p.Leu244Arg) c.5987T>G (p.Leu1996Arg) c.5648T>G (p.Leu1883Arg) c.5501T>G (p.Leu1834Arg) c.5854T>G (n.5854T>G) c.5780T>G (p.Leu1927Arg) c.5690T>G (p.Leu1897Arg) c.5741T>G (p.Leu1914Arg) n.6777T>G | |
18 | g.10705348A>G | CA401910228 | PIEZO2 | c.5723T>C (p.Leu1908Pro) c.731T>C (p.Leu244Pro) c.5987T>C (p.Leu1996Pro) c.5648T>C (p.Leu1883Pro) c.5501T>C (p.Leu1834Pro) c.5854T>C (n.5854T>C) c.5780T>C (p.Leu1927Pro) c.5690T>C (p.Leu1897Pro) c.5741T>C (p.Leu1914Pro) n.6777T>C | |
18 | g.10705348A>T | CA401910229 | PIEZO2 | c.5723T>A (p.Leu1908Gln) c.731T>A (p.Leu244Gln) c.5987T>A (p.Leu1996Gln) c.5648T>A (p.Leu1883Gln) c.5501T>A (p.Leu1834Gln) c.5854T>A (n.5854T>A) c.5780T>A (p.Leu1927Gln) c.5690T>A (p.Leu1897Gln) c.5741T>A (p.Leu1914Gln) n.6777T>A | |
18 | g.10705349G>A | CA503243143 | PIEZO2 | c.5722C>T (p.Leu1908=) c.730C>T (p.Leu244=) c.5986C>T (p.Leu1996=) c.5647C>T (p.Leu1883=) c.5500C>T (p.Leu1834=) c.5853C>T (n.5853C>T) c.5779C>T (p.Leu1927=) c.5689C>T (p.Leu1897=) c.5740C>T (p.Leu1914=) n.6776C>T | gnomAD v4 |
18 | g.10705349G>C | CA401910230 | PIEZO2 | c.5722C>G (p.Leu1908Val) c.730C>G (p.Leu244Val) c.5986C>G (p.Leu1996Val) c.5647C>G (p.Leu1883Val) c.5500C>G (p.Leu1834Val) c.5853C>G (n.5853C>G) c.5779C>G (p.Leu1927Val) c.5689C>G (p.Leu1897Val) c.5740C>G (p.Leu1914Val) n.6776C>G | dbSNP |
18 | g.10705349G= | CA2284425226 | PIEZO2 | c.5722C= (p.Leu1908=) c.730C= (p.Leu244=) c.5986C= (p.Leu1996=) c.5647C= (p.Leu1883=) c.5500C= (p.Leu1834=) c.5853C= (n.5853C=) c.5779C= (p.Leu1927=) c.5689C= (p.Leu1897=) c.5740C= (p.Leu1914=) n.6776C= | |
18 | g.10705349G>T | CA401910231 | PIEZO2 | c.5722C>A (p.Leu1908Met) c.730C>A (p.Leu244Met) c.5986C>A (p.Leu1996Met) c.5647C>A (p.Leu1883Met) c.5500C>A (p.Leu1834Met) c.5853C>A (n.5853C>A) c.5779C>A (p.Leu1927Met) c.5689C>A (p.Leu1897Met) c.5740C>A (p.Leu1914Met) n.6776C>A | gnomAD v4 |
18 | g.10705350C>A | CA401910232 | PIEZO2 | c.5721G>T (p.Glu1907Asp) c.729G>T (p.Glu243Asp) c.5985G>T (p.Glu1995Asp) c.5646G>T (p.Glu1882Asp) c.5499G>T (p.Glu1833Asp) c.5852G>T (n.5852G>T) c.5778G>T (p.Glu1926Asp) c.5688G>T (p.Glu1896Asp) c.5739G>T (p.Glu1913Asp) n.6775G>T | |
18 | g.10705350C>G | CA401910233 | PIEZO2 | c.5721G>C (p.Glu1907Asp) c.729G>C (p.Glu243Asp) c.5985G>C (p.Glu1995Asp) c.5646G>C (p.Glu1882Asp) c.5499G>C (p.Glu1833Asp) c.5852G>C (n.5852G>C) c.5778G>C (p.Glu1926Asp) c.5688G>C (p.Glu1896Asp) c.5739G>C (p.Glu1913Asp) n.6775G>C | |
18 | g.10705350C>T | CA503243144 | PIEZO2 | c.5721G>A (p.Glu1907=) c.729G>A (p.Glu243=) c.5985G>A (p.Glu1995=) c.5646G>A (p.Glu1882=) c.5499G>A (p.Glu1833=) c.5852G>A (n.5852G>A) c.5778G>A (p.Glu1926=) c.5688G>A (p.Glu1896=) c.5739G>A (p.Glu1913=) n.6775G>A | gnomAD v4 |
18 | g.10705351T>A | CA401910234 | PIEZO2 | c.5720A>T (p.Glu1907Val) c.728A>T (p.Glu243Val) c.5984A>T (p.Glu1995Val) c.5645A>T (p.Glu1882Val) c.5498A>T (p.Glu1833Val) c.5851A>T (n.5851A>T) c.5777A>T (p.Glu1926Val) c.5687A>T (p.Glu1896Val) c.5738A>T (p.Glu1913Val) n.6774A>T | |
18 | g.10705351T>C | CA401910235 | PIEZO2 | c.5720A>G (p.Glu1907Gly) c.728A>G (p.Glu243Gly) c.5984A>G (p.Glu1995Gly) c.5645A>G (p.Glu1882Gly) c.5498A>G (p.Glu1833Gly) c.5851A>G (n.5851A>G) c.5777A>G (p.Glu1926Gly) c.5687A>G (p.Glu1896Gly) c.5738A>G (p.Glu1913Gly) n.6774A>G | |
18 | g.10705351T>G | CA401910236 | PIEZO2 | c.5720A>C (p.Glu1907Ala) c.728A>C (p.Glu243Ala) c.5984A>C (p.Glu1995Ala) c.5645A>C (p.Glu1882Ala) c.5498A>C (p.Glu1833Ala) c.5851A>C (n.5851A>C) c.5777A>C (p.Glu1926Ala) c.5687A>C (p.Glu1896Ala) c.5738A>C (p.Glu1913Ala) n.6774A>C | |
18 | g.10705352C>A | CA401910237 | PIEZO2 | c.5719G>T (p.Glu1907Ter) c.727G>T (p.Glu243Ter) c.5983G>T (p.Glu1995Ter) c.5644G>T (p.Glu1882Ter) c.5497G>T (p.Glu1833Ter) c.5850G>T (n.5850G>T) c.5776G>T (p.Glu1926Ter) c.5686G>T (p.Glu1896Ter) c.5737G>T (p.Glu1913Ter) n.6773G>T | |
18 | g.10705352C= | CA2284425227 | PIEZO2 | c.5719G= (p.Glu1907=) c.727G= (p.Glu243=) c.5983G= (p.Glu1995=) c.5644G= (p.Glu1882=) c.5497G= (p.Glu1833=) c.5850G= (n.5850G=) c.5776G= (p.Glu1926=) c.5686G= (p.Glu1896=) c.5737G= (p.Glu1913=) n.6773G= | |
18 | g.10705352C>G | CA401910239 | PIEZO2 | c.5719G>C (p.Glu1907Gln) c.727G>C (p.Glu243Gln) c.5983G>C (p.Glu1995Gln) c.5644G>C (p.Glu1882Gln) c.5497G>C (p.Glu1833Gln) c.5850G>C (n.5850G>C) c.5776G>C (p.Glu1926Gln) c.5686G>C (p.Glu1896Gln) c.5737G>C (p.Glu1913Gln) n.6773G>C | |
18 | g.10705352C>T | CA401910238 | PIEZO2 | c.5719G>A (p.Glu1907Lys) c.727G>A (p.Glu243Lys) c.5983G>A (p.Glu1995Lys) c.5644G>A (p.Glu1882Lys) c.5497G>A (p.Glu1833Lys) c.5850G>A (n.5850G>A) c.5776G>A (p.Glu1926Lys) c.5686G>A (p.Glu1896Lys) c.5737G>A (p.Glu1913Lys) n.6773G>A | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10705353G>A | CA8892289 | PIEZO2 | c.5718C>T (p.Ser1906=) c.726C>T (p.Ser242=) c.5982C>T (p.Ser1994=) c.5643C>T (p.Ser1881=) c.5496C>T (p.Ser1832=) c.5849C>T (n.5849C>T) c.5775C>T (p.Ser1925=) c.5685C>T (p.Ser1895=) c.5736C>T (p.Ser1912=) n.6772C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10705353G>C | CA401910240 | PIEZO2 | c.5718C>G (p.Ser1906Arg) c.726C>G (p.Ser242Arg) c.5982C>G (p.Ser1994Arg) c.5643C>G (p.Ser1881Arg) c.5496C>G (p.Ser1832Arg) c.5849C>G (n.5849C>G) c.5775C>G (p.Ser1925Arg) c.5685C>G (p.Ser1895Arg) c.5736C>G (p.Ser1912Arg) n.6772C>G | gnomAD v4 |
18 | g.10705353G= | CA2284425228 | PIEZO2 | c.5718C= (p.Ser1906=) c.726C= (p.Ser242=) c.5982C= (p.Ser1994=) c.5643C= (p.Ser1881=) c.5496C= (p.Ser1832=) c.5849C= (n.5849C=) c.5775C= (p.Ser1925=) c.5685C= (p.Ser1895=) c.5736C= (p.Ser1912=) n.6772C= | |
18 | g.10705353G>T | CA401910241 | PIEZO2 | c.5718C>A (p.Ser1906Arg) c.726C>A (p.Ser242Arg) c.5982C>A (p.Ser1994Arg) c.5643C>A (p.Ser1881Arg) c.5496C>A (p.Ser1832Arg) c.5849C>A (n.5849C>A) c.5775C>A (p.Ser1925Arg) c.5685C>A (p.Ser1895Arg) c.5736C>A (p.Ser1912Arg) n.6772C>A | |
18 | g.10705354C>A | CA401910242 | PIEZO2 | c.5717G>T (p.Ser1906Ile) c.725G>T (p.Ser242Ile) c.5981G>T (p.Ser1994Ile) c.5642G>T (p.Ser1881Ile) c.5495G>T (p.Ser1832Ile) c.5848G>T (n.5848G>T) c.5774G>T (p.Ser1925Ile) c.5684G>T (p.Ser1895Ile) c.5735G>T (p.Ser1912Ile) n.6771G>T | |
18 | g.10705354C>G | CA401910243 | PIEZO2 | c.5717G>C (p.Ser1906Thr) c.725G>C (p.Ser242Thr) c.5981G>C (p.Ser1994Thr) c.5642G>C (p.Ser1881Thr) c.5495G>C (p.Ser1832Thr) c.5848G>C (n.5848G>C) c.5774G>C (p.Ser1925Thr) c.5684G>C (p.Ser1895Thr) c.5735G>C (p.Ser1912Thr) n.6771G>C | |
18 | g.10705354C>T | CA401910244 | PIEZO2 | c.5717G>A (p.Ser1906Asn) c.725G>A (p.Ser242Asn) c.5981G>A (p.Ser1994Asn) c.5642G>A (p.Ser1881Asn) c.5495G>A (p.Ser1832Asn) c.5848G>A (n.5848G>A) c.5774G>A (p.Ser1925Asn) c.5684G>A (p.Ser1895Asn) c.5735G>A (p.Ser1912Asn) n.6771G>A | |
18 | g.10705355T>A | CA401910245 | PIEZO2 | c.5716A>T (p.Ser1906Cys) c.724A>T (p.Ser242Cys) c.5980A>T (p.Ser1994Cys) c.5641A>T (p.Ser1881Cys) c.5494A>T (p.Ser1832Cys) c.5847A>T (n.5847A>T) c.5773A>T (p.Ser1925Cys) c.5683A>T (p.Ser1895Cys) c.5734A>T (p.Ser1912Cys) n.6770A>T | |
18 | g.10705355T>C | CA401910246 | PIEZO2 | c.5716A>G (p.Ser1906Gly) c.724A>G (p.Ser242Gly) c.5980A>G (p.Ser1994Gly) c.5641A>G (p.Ser1881Gly) c.5494A>G (p.Ser1832Gly) c.5847A>G (n.5847A>G) c.5773A>G (p.Ser1925Gly) c.5683A>G (p.Ser1895Gly) c.5734A>G (p.Ser1912Gly) n.6770A>G | |
18 | g.10705355T>G | CA401910247 | PIEZO2 | c.5716A>C (p.Ser1906Arg) c.724A>C (p.Ser242Arg) c.5980A>C (p.Ser1994Arg) c.5641A>C (p.Ser1881Arg) c.5494A>C (p.Ser1832Arg) c.5847A>C (n.5847A>C) c.5773A>C (p.Ser1925Arg) c.5683A>C (p.Ser1895Arg) c.5734A>C (p.Ser1912Arg) n.6770A>C | |
18 | g.10705356G>A | CA503243145 | PIEZO2 | c.5715C>T (p.Ala1905=) c.723C>T (p.Ala241=) c.5979C>T (p.Ala1993=) c.5640C>T (p.Ala1880=) c.5493C>T (p.Ala1831=) c.5846C>T (n.5846C>T) c.5772C>T (p.Ala1924=) c.5682C>T (p.Ala1894=) c.5733C>T (p.Ala1911=) n.6769C>T | |
18 | g.10705356G>C | CA503243146 | PIEZO2 | c.5715C>G (p.Ala1905=) c.723C>G (p.Ala241=) c.5979C>G (p.Ala1993=) c.5640C>G (p.Ala1880=) c.5493C>G (p.Ala1831=) c.5846C>G (n.5846C>G) c.5772C>G (p.Ala1924=) c.5682C>G (p.Ala1894=) c.5733C>G (p.Ala1911=) n.6769C>G | |
18 | g.10705356G>T | CA503243147 | PIEZO2 | c.5715C>A (p.Ala1905=) c.723C>A (p.Ala241=) c.5979C>A (p.Ala1993=) c.5640C>A (p.Ala1880=) c.5493C>A (p.Ala1831=) c.5846C>A (n.5846C>A) c.5772C>A (p.Ala1924=) c.5682C>A (p.Ala1894=) c.5733C>A (p.Ala1911=) n.6769C>A | |
18 | g.10705357G>A | CA401910248 | PIEZO2 | c.5714C>T (p.Ala1905Val) c.722C>T (p.Ala241Val) c.5978C>T (p.Ala1993Val) c.5639C>T (p.Ala1880Val) c.5492C>T (p.Ala1831Val) c.5845C>T (n.5845C>T) c.5771C>T (p.Ala1924Val) c.5681C>T (p.Ala1894Val) c.5732C>T (p.Ala1911Val) n.6768C>T | |
18 | g.10705357G>C | CA401910249 | PIEZO2 | c.5714C>G (p.Ala1905Gly) c.722C>G (p.Ala241Gly) c.5978C>G (p.Ala1993Gly) c.5639C>G (p.Ala1880Gly) c.5492C>G (p.Ala1831Gly) c.5845C>G (n.5845C>G) c.5771C>G (p.Ala1924Gly) c.5681C>G (p.Ala1894Gly) c.5732C>G (p.Ala1911Gly) n.6768C>G | |
18 | g.10705357G= | CA2284425229 | PIEZO2 | c.5714C= (p.Ala1905=) c.722C= (p.Ala241=) c.5978C= (p.Ala1993=) c.5639C= (p.Ala1880=) c.5492C= (p.Ala1831=) c.5845C= (n.5845C=) c.5771C= (p.Ala1924=) c.5681C= (p.Ala1894=) c.5732C= (p.Ala1911=) n.6768C= | |
18 | g.10705357G>T | CA401910250 | PIEZO2 | c.5714C>A (p.Ala1905Asp) c.722C>A (p.Ala241Asp) c.5978C>A (p.Ala1993Asp) c.5639C>A (p.Ala1880Asp) c.5492C>A (p.Ala1831Asp) c.5845C>A (n.5845C>A) c.5771C>A (p.Ala1924Asp) c.5681C>A (p.Ala1894Asp) c.5732C>A (p.Ala1911Asp) n.6768C>A | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10705358C>A | CA401910253 | PIEZO2 | c.5713G>T (p.Ala1905Ser) c.721G>T (p.Ala241Ser) c.5977G>T (p.Ala1993Ser) c.5638G>T (p.Ala1880Ser) c.5491G>T (p.Ala1831Ser) c.5844G>T (n.5844G>T) c.5770G>T (p.Ala1924Ser) c.5680G>T (p.Ala1894Ser) c.5731G>T (p.Ala1911Ser) n.6767G>T | |
18 | g.10705358C= | CA2284425230 | PIEZO2 | c.5713G= (p.Ala1905=) c.721G= (p.Ala241=) c.5977G= (p.Ala1993=) c.5638G= (p.Ala1880=) c.5491G= (p.Ala1831=) c.5844G= (n.5844G=) c.5770G= (p.Ala1924=) c.5680G= (p.Ala1894=) c.5731G= (p.Ala1911=) n.6767G= | |
18 | g.10705358C>G | CA401910251 | PIEZO2 | c.5713G>C (p.Ala1905Pro) c.721G>C (p.Ala241Pro) c.5977G>C (p.Ala1993Pro) c.5638G>C (p.Ala1880Pro) c.5491G>C (p.Ala1831Pro) c.5844G>C (n.5844G>C) c.5770G>C (p.Ala1924Pro) c.5680G>C (p.Ala1894Pro) c.5731G>C (p.Ala1911Pro) n.6767G>C | |
18 | g.10705358C>T | CA401910252 | PIEZO2 | c.5713G>A (p.Ala1905Thr) c.721G>A (p.Ala241Thr) c.5977G>A (p.Ala1993Thr) c.5638G>A (p.Ala1880Thr) c.5491G>A (p.Ala1831Thr) c.5844G>A (n.5844G>A) c.5770G>A (p.Ala1924Thr) c.5680G>A (p.Ala1894Thr) c.5731G>A (p.Ala1911Thr) n.6767G>A | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10705359C>A | CA503243150 | PIEZO2 | c.5712G>T (p.Thr1904=) c.720G>T (p.Thr240=) c.5976G>T (p.Thr1992=) c.5637G>T (p.Thr1879=) c.5490G>T (p.Thr1830=) c.5843G>T (n.5843G>T) c.5769G>T (p.Thr1923=) c.5679G>T (p.Thr1893=) c.5730G>T (p.Thr1910=) n.6766G>T | |
18 | g.10705359C= | CA2284425231 | PIEZO2 | c.5712G= (p.Thr1904=) c.720G= (p.Thr240=) c.5976G= (p.Thr1992=) c.5637G= (p.Thr1879=) c.5490G= (p.Thr1830=) c.5843G= (n.5843G=) c.5769G= (p.Thr1923=) c.5679G= (p.Thr1893=) c.5730G= (p.Thr1910=) n.6766G= | |
18 | g.10705359C>G | CA503243151 | PIEZO2 | c.5712G>C (p.Thr1904=) c.720G>C (p.Thr240=) c.5976G>C (p.Thr1992=) c.5637G>C (p.Thr1879=) c.5490G>C (p.Thr1830=) c.5843G>C (n.5843G>C) c.5769G>C (p.Thr1923=) c.5679G>C (p.Thr1893=) c.5730G>C (p.Thr1910=) n.6766G>C | |
18 | g.10705359C>T | CA295991199 | PIEZO2 | c.5712G>A (p.Thr1904=) c.720G>A (p.Thr240=) c.5976G>A (p.Thr1992=) c.5637G>A (p.Thr1879=) c.5490G>A (p.Thr1830=) c.5843G>A (n.5843G>A) c.5769G>A (p.Thr1923=) c.5679G>A (p.Thr1893=) c.5730G>A (p.Thr1910=) n.6766G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10705360G>A | CA295991206 | PIEZO2 | c.5711C>T (p.Thr1904Met) c.719C>T (p.Thr240Met) c.5975C>T (p.Thr1992Met) c.5636C>T (p.Thr1879Met) c.5489C>T (p.Thr1830Met) c.5842C>T (n.5842C>T) c.5768C>T (p.Thr1923Met) c.5678C>T (p.Thr1893Met) c.5729C>T (p.Thr1910Met) n.6765C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10705360G>C | CA401910254 | PIEZO2 | c.5711C>G (p.Thr1904Arg) c.719C>G (p.Thr240Arg) c.5975C>G (p.Thr1992Arg) c.5636C>G (p.Thr1879Arg) c.5489C>G (p.Thr1830Arg) c.5842C>G (n.5842C>G) c.5768C>G (p.Thr1923Arg) c.5678C>G (p.Thr1893Arg) c.5729C>G (p.Thr1910Arg) n.6765C>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10705360G= | CA2284425232 | PIEZO2 | c.5711C= (p.Thr1904=) c.719C= (p.Thr240=) c.5975C= (p.Thr1992=) c.5636C= (p.Thr1879=) c.5489C= (p.Thr1830=) c.5842C= (n.5842C=) c.5768C= (p.Thr1923=) c.5678C= (p.Thr1893=) c.5729C= (p.Thr1910=) n.6765C= | |
18 | g.10705360G>T | CA401910255 | PIEZO2 | c.5711C>A (p.Thr1904Lys) c.719C>A (p.Thr240Lys) c.5975C>A (p.Thr1992Lys) c.5636C>A (p.Thr1879Lys) c.5489C>A (p.Thr1830Lys) c.5842C>A (n.5842C>A) c.5768C>A (p.Thr1923Lys) c.5678C>A (p.Thr1893Lys) c.5729C>A (p.Thr1910Lys) n.6765C>A | dbSNP gnomAD v2 |
18 | g.10705361T>A | CA401910256 | PIEZO2 | c.5710A>T (p.Thr1904Ser) c.718A>T (p.Thr240Ser) c.5974A>T (p.Thr1992Ser) c.5635A>T (p.Thr1879Ser) c.5488A>T (p.Thr1830Ser) c.5841A>T (n.5841A>T) c.5767A>T (p.Thr1923Ser) c.5677A>T (p.Thr1893Ser) c.5728A>T (p.Thr1910Ser) n.6764A>T | |
18 | g.10705361T>C | CA401910257 | PIEZO2 | c.5710A>G (p.Thr1904Ala) c.718A>G (p.Thr240Ala) c.5974A>G (p.Thr1992Ala) c.5635A>G (p.Thr1879Ala) c.5488A>G (p.Thr1830Ala) c.5841A>G (n.5841A>G) c.5767A>G (p.Thr1923Ala) c.5677A>G (p.Thr1893Ala) c.5728A>G (p.Thr1910Ala) n.6764A>G | |
18 | g.10705361T>G | CA401910258 | PIEZO2 | c.5710A>C (p.Thr1904Pro) c.718A>C (p.Thr240Pro) c.5974A>C (p.Thr1992Pro) c.5635A>C (p.Thr1879Pro) c.5488A>C (p.Thr1830Pro) c.5841A>C (n.5841A>C) c.5767A>C (p.Thr1923Pro) c.5677A>C (p.Thr1893Pro) c.5728A>C (p.Thr1910Pro) n.6764A>C | |
18 | g.10705362C>A | CA503243155 | PIEZO2 | c.5709G>T (p.Leu1903=) c.717G>T (p.Leu239=) c.5973G>T (p.Leu1991=) c.5634G>T (p.Leu1878=) c.5487G>T (p.Leu1829=) c.5840G>T (n.5840G>T) c.5766G>T (p.Leu1922=) c.5676G>T (p.Leu1892=) c.5727G>T (p.Leu1909=) n.6763G>T | |
18 | g.10705362C>G | CA503243156 | PIEZO2 | c.5709G>C (p.Leu1903=) c.717G>C (p.Leu239=) c.5973G>C (p.Leu1991=) c.5634G>C (p.Leu1878=) c.5487G>C (p.Leu1829=) c.5840G>C (n.5840G>C) c.5766G>C (p.Leu1922=) c.5676G>C (p.Leu1892=) c.5727G>C (p.Leu1909=) n.6763G>C | |
18 | g.10705362C>T | CA503243157 | PIEZO2 | c.5709G>A (p.Leu1903=) c.717G>A (p.Leu239=) c.5973G>A (p.Leu1991=) c.5634G>A (p.Leu1878=) c.5487G>A (p.Leu1829=) c.5840G>A (n.5840G>A) c.5766G>A (p.Leu1922=) c.5676G>A (p.Leu1892=) c.5727G>A (p.Leu1909=) n.6763G>A | |
18 | g.10705363A>C | CA401910259 | PIEZO2 | c.5708T>G (p.Leu1903Arg) c.716T>G (p.Leu239Arg) c.5972T>G (p.Leu1991Arg) c.5633T>G (p.Leu1878Arg) c.5486T>G (p.Leu1829Arg) c.5839T>G (n.5839T>G) c.5765T>G (p.Leu1922Arg) c.5675T>G (p.Leu1892Arg) c.5726T>G (p.Leu1909Arg) n.6762T>G | |
18 | g.10705363A>G | CA401910261 | PIEZO2 | c.5708T>C (p.Leu1903Pro) c.716T>C (p.Leu239Pro) c.5972T>C (p.Leu1991Pro) c.5633T>C (p.Leu1878Pro) c.5486T>C (p.Leu1829Pro) c.5839T>C (n.5839T>C) c.5765T>C (p.Leu1922Pro) c.5675T>C (p.Leu1892Pro) c.5726T>C (p.Leu1909Pro) n.6762T>C | |
18 | g.10705363A>T | CA401910260 | PIEZO2 | c.5708T>A (p.Leu1903Gln) c.716T>A (p.Leu239Gln) c.5972T>A (p.Leu1991Gln) c.5633T>A (p.Leu1878Gln) c.5486T>A (p.Leu1829Gln) c.5839T>A (n.5839T>A) c.5765T>A (p.Leu1922Gln) c.5675T>A (p.Leu1892Gln) c.5726T>A (p.Leu1909Gln) n.6762T>A | |
18 | g.10705364G>A | CA503243161 | PIEZO2 | c.5707C>T (p.Leu1903=) c.715C>T (p.Leu239=) c.5971C>T (p.Leu1991=) c.5632C>T (p.Leu1878=) c.5485C>T (p.Leu1829=) c.5838C>T (n.5838C>T) c.5764C>T (p.Leu1922=) c.5674C>T (p.Leu1892=) c.5725C>T (p.Leu1909=) n.6761C>T | dbSNP gnomAD v2 |
18 | g.10705364G>C | CA401910262 | PIEZO2 | c.5707C>G (p.Leu1903Val) c.715C>G (p.Leu239Val) c.5971C>G (p.Leu1991Val) c.5632C>G (p.Leu1878Val) c.5485C>G (p.Leu1829Val) c.5838C>G (n.5838C>G) c.5764C>G (p.Leu1922Val) c.5674C>G (p.Leu1892Val) c.5725C>G (p.Leu1909Val) n.6761C>G | |
18 | g.10705364G= | CA2284425233 | PIEZO2 | c.5707C= (p.Leu1903=) c.715C= (p.Leu239=) c.5971C= (p.Leu1991=) c.5632C= (p.Leu1878=) c.5485C= (p.Leu1829=) c.5838C= (n.5838C=) c.5764C= (p.Leu1922=) c.5674C= (p.Leu1892=) c.5725C= (p.Leu1909=) n.6761C= | |
18 | g.10705364G>T | CA401910263 | PIEZO2 | c.5707C>A (p.Leu1903Met) c.715C>A (p.Leu239Met) c.5971C>A (p.Leu1991Met) c.5632C>A (p.Leu1878Met) c.5485C>A (p.Leu1829Met) c.5838C>A (n.5838C>A) c.5764C>A (p.Leu1922Met) c.5674C>A (p.Leu1892Met) c.5725C>A (p.Leu1909Met) n.6761C>A | |
18 | g.10705365C>A | CA401910264 | PIEZO2 | c.5706G>T (p.Glu1902Asp) c.714G>T (p.Glu238Asp) c.5970G>T (p.Glu1990Asp) c.5631G>T (p.Glu1877Asp) c.5484G>T (p.Glu1828Asp) c.5837G>T (n.5837G>T) c.5763G>T (p.Glu1921Asp) c.5673G>T (p.Glu1891Asp) c.5724G>T (p.Glu1908Asp) n.6760G>T | |
18 | g.10705365C= | CA2284425234 | PIEZO2 | c.5706G= (p.Glu1902=) c.714G= (p.Glu238=) c.5970G= (p.Glu1990=) c.5631G= (p.Glu1877=) c.5484G= (p.Glu1828=) c.5837G= (n.5837G=) c.5763G= (p.Glu1921=) c.5673G= (p.Glu1891=) c.5724G= (p.Glu1908=) n.6760G= | |
18 | g.10705365C>G | CA401910265 | PIEZO2 | c.5706G>C (p.Glu1902Asp) c.714G>C (p.Glu238Asp) c.5970G>C (p.Glu1990Asp) c.5631G>C (p.Glu1877Asp) c.5484G>C (p.Glu1828Asp) c.5837G>C (n.5837G>C) c.5763G>C (p.Glu1921Asp) c.5673G>C (p.Glu1891Asp) c.5724G>C (p.Glu1908Asp) n.6760G>C | |
18 | g.10705365C>T | CA295991208 | PIEZO2 | c.5706G>A (p.Glu1902=) c.714G>A (p.Glu238=) c.5970G>A (p.Glu1990=) c.5631G>A (p.Glu1877=) c.5484G>A (p.Glu1828=) c.5837G>A (n.5837G>A) c.5763G>A (p.Glu1921=) c.5673G>A (p.Glu1891=) c.5724G>A (p.Glu1908=) n.6760G>A | dbSNP |
18 | g.10705366T>A | CA401910268 | PIEZO2 | c.5705A>T (p.Glu1902Val) c.713A>T (p.Glu238Val) c.5969A>T (p.Glu1990Val) c.5630A>T (p.Glu1877Val) c.5483A>T (p.Glu1828Val) c.5836A>T (n.5836A>T) c.5762A>T (p.Glu1921Val) c.5672A>T (p.Glu1891Val) c.5723A>T (p.Glu1908Val) n.6759A>T | |
18 | g.10705366T>C | CA401910266 | PIEZO2 | c.5705A>G (p.Glu1902Gly) c.713A>G (p.Glu238Gly) c.5969A>G (p.Glu1990Gly) c.5630A>G (p.Glu1877Gly) c.5483A>G (p.Glu1828Gly) c.5836A>G (n.5836A>G) c.5762A>G (p.Glu1921Gly) c.5672A>G (p.Glu1891Gly) c.5723A>G (p.Glu1908Gly) n.6759A>G | gnomAD v4 |
18 | g.10705366T>G | CA401910267 | PIEZO2 | c.5705A>C (p.Glu1902Ala) c.713A>C (p.Glu238Ala) c.5969A>C (p.Glu1990Ala) c.5630A>C (p.Glu1877Ala) c.5483A>C (p.Glu1828Ala) c.5836A>C (n.5836A>C) c.5762A>C (p.Glu1921Ala) c.5672A>C (p.Glu1891Ala) c.5723A>C (p.Glu1908Ala) n.6759A>C | |
18 | g.10705367C>A | CA401910269 | PIEZO2 | c.5704G>T (p.Glu1902Ter) c.712G>T (p.Glu238Ter) c.5968G>T (p.Glu1990Ter) c.5629G>T (p.Glu1877Ter) c.5482G>T (p.Glu1828Ter) c.5835G>T (n.5835G>T) c.5761G>T (p.Glu1921Ter) c.5671G>T (p.Glu1891Ter) c.5722G>T (p.Glu1908Ter) n.6758G>T | |
18 | g.10705367C>G | CA401910270 | PIEZO2 | c.5704G>C (p.Glu1902Gln) c.712G>C (p.Glu238Gln) c.5968G>C (p.Glu1990Gln) c.5629G>C (p.Glu1877Gln) c.5482G>C (p.Glu1828Gln) c.5835G>C (n.5835G>C) c.5761G>C (p.Glu1921Gln) c.5671G>C (p.Glu1891Gln) c.5722G>C (p.Glu1908Gln) n.6758G>C | |
18 | g.10705367C>T | CA401910271 | PIEZO2 | c.5704G>A (p.Glu1902Lys) c.712G>A (p.Glu238Lys) c.5968G>A (p.Glu1990Lys) c.5629G>A (p.Glu1877Lys) c.5482G>A (p.Glu1828Lys) c.5835G>A (n.5835G>A) c.5761G>A (p.Glu1921Lys) c.5671G>A (p.Glu1891Lys) c.5722G>A (p.Glu1908Lys) n.6758G>A | gnomAD v4 |
18 | g.10705368A= | CA2284425235 | PIEZO2 | c.5703T= (p.His1901=) c.711T= (p.His237=) c.5967T= (p.His1989=) c.5628T= (p.His1876=) c.5481T= (p.His1827=) c.5834T= (n.5834T=) c.5760T= (p.His1920=) c.5670T= (p.His1890=) c.5721T= (p.His1907=) n.6757T= | |
18 | g.10705368A>C | CA401910272 | PIEZO2 | c.5703T>G (p.His1901Gln) c.711T>G (p.His237Gln) c.5967T>G (p.His1989Gln) c.5628T>G (p.His1876Gln) c.5481T>G (p.His1827Gln) c.5834T>G (n.5834T>G) c.5760T>G (p.His1920Gln) c.5670T>G (p.His1890Gln) c.5721T>G (p.His1907Gln) n.6757T>G | dbSNP |
18 | g.10705368A>G | CA503243166 | PIEZO2 | c.5703T>C (p.His1901=) c.711T>C (p.His237=) c.5967T>C (p.His1989=) c.5628T>C (p.His1876=) c.5481T>C (p.His1827=) c.5834T>C (n.5834T>C) c.5760T>C (p.His1920=) c.5670T>C (p.His1890=) c.5721T>C (p.His1907=) n.6757T>C | |
18 | g.10705368A>T | CA8892290 | PIEZO2 | c.5703T>A (p.His1901Gln) c.711T>A (p.His237Gln) c.5967T>A (p.His1989Gln) c.5628T>A (p.His1876Gln) c.5481T>A (p.His1827Gln) c.5834T>A (n.5834T>A) c.5760T>A (p.His1920Gln) c.5670T>A (p.His1890Gln) c.5721T>A (p.His1907Gln) n.6757T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.10705369T>A | CA401910273 | PIEZO2 | c.5702A>T (p.His1901Leu) c.710A>T (p.His237Leu) c.5966A>T (p.His1989Leu) c.5627A>T (p.His1876Leu) c.5480A>T (p.His1827Leu) c.5833A>T (n.5833A>T) c.5759A>T (p.His1920Leu) c.5669A>T (p.His1890Leu) c.5720A>T (p.His1907Leu) n.6756A>T | |
18 | g.10705369T>C | CA401910274 | PIEZO2 | c.5702A>G (p.His1901Arg) c.710A>G (p.His237Arg) c.5966A>G (p.His1989Arg) c.5627A>G (p.His1876Arg) c.5480A>G (p.His1827Arg) c.5833A>G (n.5833A>G) c.5759A>G (p.His1920Arg) c.5669A>G (p.His1890Arg) c.5720A>G (p.His1907Arg) n.6756A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10705369T>G | CA401910275 | PIEZO2 | c.5702A>C (p.His1901Pro) c.710A>C (p.His237Pro) c.5966A>C (p.His1989Pro) c.5627A>C (p.His1876Pro) c.5480A>C (p.His1827Pro) c.5833A>C (n.5833A>C) c.5759A>C (p.His1920Pro) c.5669A>C (p.His1890Pro) c.5720A>C (p.His1907Pro) n.6756A>C | |
18 | g.10705369T= | CA2284425236 | PIEZO2 | c.5702A= (p.His1901=) c.710A= (p.His237=) c.5966A= (p.His1989=) c.5627A= (p.His1876=) c.5480A= (p.His1827=) c.5833A= (n.5833A=) c.5759A= (p.His1920=) c.5669A= (p.His1890=) c.5720A= (p.His1907=) n.6756A= | |
18 | g.10705370G>A | CA401910276 | PIEZO2 | c.5701C>T (p.His1901Tyr) c.709C>T (p.His237Tyr) c.5965C>T (p.His1989Tyr) c.5626C>T (p.His1876Tyr) c.5479C>T (p.His1827Tyr) c.5832C>T (n.5832C>T) c.5758C>T (p.His1920Tyr) c.5668C>T (p.His1890Tyr) c.5719C>T (p.His1907Tyr) n.6755C>T | |
18 | g.10705370G>C | CA401910277 | PIEZO2 | c.5701C>G (p.His1901Asp) c.709C>G (p.His237Asp) c.5965C>G (p.His1989Asp) c.5626C>G (p.His1876Asp) c.5479C>G (p.His1827Asp) c.5832C>G (n.5832C>G) c.5758C>G (p.His1920Asp) c.5668C>G (p.His1890Asp) c.5719C>G (p.His1907Asp) n.6755C>G | |
18 | g.10705370G>T | CA401910278 | PIEZO2 | c.5701C>A (p.His1901Asn) c.709C>A (p.His237Asn) c.5965C>A (p.His1989Asn) c.5626C>A (p.His1876Asn) c.5479C>A (p.His1827Asn) c.5832C>A (n.5832C>A) c.5758C>A (p.His1920Asn) c.5668C>A (p.His1890Asn) c.5719C>A (p.His1907Asn) n.6755C>A | |
18 | g.10705371G>A | CA295991222 | PIEZO2 | c.5700C>T (p.Thr1900=) c.708C>T (p.Thr236=) c.5964C>T (p.Thr1988=) c.5625C>T (p.Thr1875=) c.5478C>T (p.Thr1826=) c.5831C>T (n.5831C>T) c.5757C>T (p.Thr1919=) c.5667C>T (p.Thr1889=) c.5718C>T (p.Thr1906=) n.6754C>T | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10705371G>C | CA503243170 | PIEZO2 | c.5700C>G (p.Thr1900=) c.708C>G (p.Thr236=) c.5964C>G (p.Thr1988=) c.5625C>G (p.Thr1875=) c.5478C>G (p.Thr1826=) c.5831C>G (n.5831C>G) c.5757C>G (p.Thr1919=) c.5667C>G (p.Thr1889=) c.5718C>G (p.Thr1906=) n.6754C>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10705371G= | CA2284425237 | PIEZO2 | c.5700C= (p.Thr1900=) c.708C= (p.Thr236=) c.5964C= (p.Thr1988=) c.5625C= (p.Thr1875=) c.5478C= (p.Thr1826=) c.5831C= (n.5831C=) c.5757C= (p.Thr1919=) c.5667C= (p.Thr1889=) c.5718C= (p.Thr1906=) n.6754C= | |
18 | g.10705371G>T | CA503243171 | PIEZO2 | c.5700C>A (p.Thr1900=) c.708C>A (p.Thr236=) c.5964C>A (p.Thr1988=) c.5625C>A (p.Thr1875=) c.5478C>A (p.Thr1826=) c.5831C>A (n.5831C>A) c.5757C>A (p.Thr1919=) c.5667C>A (p.Thr1889=) c.5718C>A (p.Thr1906=) n.6754C>A | |
18 | g.10705372G>A | CA401910279 | PIEZO2 | c.5699C>T (p.Thr1900Ile) c.707C>T (p.Thr236Ile) c.5963C>T (p.Thr1988Ile) c.5624C>T (p.Thr1875Ile) c.5477C>T (p.Thr1826Ile) c.5830C>T (n.5830C>T) c.5756C>T (p.Thr1919Ile) c.5666C>T (p.Thr1889Ile) c.5717C>T (p.Thr1906Ile) n.6753C>T | |
18 | g.10705372G>C | CA401910281 | PIEZO2 | c.5699C>G (p.Thr1900Ser) c.707C>G (p.Thr236Ser) c.5963C>G (p.Thr1988Ser) c.5624C>G (p.Thr1875Ser) c.5477C>G (p.Thr1826Ser) c.5830C>G (n.5830C>G) c.5756C>G (p.Thr1919Ser) c.5666C>G (p.Thr1889Ser) c.5717C>G (p.Thr1906Ser) n.6753C>G | |
18 | g.10705372G>T | CA401910280 | PIEZO2 | c.5699C>A (p.Thr1900Asn) c.707C>A (p.Thr236Asn) c.5963C>A (p.Thr1988Asn) c.5624C>A (p.Thr1875Asn) c.5477C>A (p.Thr1826Asn) c.5830C>A (n.5830C>A) c.5756C>A (p.Thr1919Asn) c.5666C>A (p.Thr1889Asn) c.5717C>A (p.Thr1906Asn) n.6753C>A | |
18 | g.10705373T>A | CA401910282 | PIEZO2 | c.5698A>T (p.Thr1900Ser) c.706A>T (p.Thr236Ser) c.5962A>T (p.Thr1988Ser) c.5623A>T (p.Thr1875Ser) c.5476A>T (p.Thr1826Ser) c.5829A>T (n.5829A>T) c.5755A>T (p.Thr1919Ser) c.5665A>T (p.Thr1889Ser) c.5716A>T (p.Thr1906Ser) n.6752A>T | |
18 | g.10705373T>C | CA401910283 | PIEZO2 | c.5698A>G (p.Thr1900Ala) c.706A>G (p.Thr236Ala) c.5962A>G (p.Thr1988Ala) c.5623A>G (p.Thr1875Ala) c.5476A>G (p.Thr1826Ala) c.5829A>G (n.5829A>G) c.5755A>G (p.Thr1919Ala) c.5665A>G (p.Thr1889Ala) c.5716A>G (p.Thr1906Ala) n.6752A>G | |
18 | g.10705373T>G | CA401910284 | PIEZO2 | c.5698A>C (p.Thr1900Pro) c.706A>C (p.Thr236Pro) c.5962A>C (p.Thr1988Pro) c.5623A>C (p.Thr1875Pro) c.5476A>C (p.Thr1826Pro) c.5829A>C (n.5829A>C) c.5755A>C (p.Thr1919Pro) c.5665A>C (p.Thr1889Pro) c.5716A>C (p.Thr1906Pro) n.6752A>C | dbSNP |
18 | g.10705373T= | CA2284425238 | PIEZO2 | c.5698A= (p.Thr1900=) c.706A= (p.Thr236=) c.5962A= (p.Thr1988=) c.5623A= (p.Thr1875=) c.5476A= (p.Thr1826=) c.5829A= (n.5829A=) c.5755A= (p.Thr1919=) c.5665A= (p.Thr1889=) c.5716A= (p.Thr1906=) n.6752A= | |
18 | g.10705374C>A | CA503243175 | PIEZO2 | c.5697G>T (p.Leu1899=) c.705G>T (p.Leu235=) c.5961G>T (p.Leu1987=) c.5622G>T (p.Leu1874=) c.5475G>T (p.Leu1825=) c.5828G>T (n.5828G>T) c.5754G>T (p.Leu1918=) c.5664G>T (p.Leu1888=) c.5715G>T (p.Leu1905=) n.6751G>T | gnomAD v4 |
18 | g.10705374C>G | CA503243176 | PIEZO2 | c.5697G>C (p.Leu1899=) c.705G>C (p.Leu235=) c.5961G>C (p.Leu1987=) c.5622G>C (p.Leu1874=) c.5475G>C (p.Leu1825=) c.5828G>C (n.5828G>C) c.5754G>C (p.Leu1918=) c.5664G>C (p.Leu1888=) c.5715G>C (p.Leu1905=) n.6751G>C | |
18 | g.10705374C>T | CA503243174 | PIEZO2 | c.5697G>A (p.Leu1899=) c.705G>A (p.Leu235=) c.5961G>A (p.Leu1987=) c.5622G>A (p.Leu1874=) c.5475G>A (p.Leu1825=) c.5828G>A (n.5828G>A) c.5754G>A (p.Leu1918=) c.5664G>A (p.Leu1888=) c.5715G>A (p.Leu1905=) n.6751G>A | |
18 | g.10705374_10705375delinsCA | CA2284425239 | PIEZO2 | c.5696_5697delinsTG (p.Leu1899=) c.704_705delinsTG (p.Leu235=) c.5960_5961delinsTG (p.Leu1987=) c.5621_5622delinsTG (p.Leu1874=) c.5474_5475delinsTG (p.Leu1825=) c.5827_5828delinsTG (n.5827_5828delinsTG) c.5753_5754delinsTG (p.Leu1918=) c.5663_5664delinsTG (p.Leu1888=) c.5714_5715delinsTG (p.Leu1905=) n.6750_6751delinsTG | |
18 | g.10705375del | CA16044177 | PIEZO2 | c.5696del (p.Leu1899ArgfsTer5) c.704del (p.Leu235ArgfsTer5) c.5960del (p.Leu1987ArgfsTer5) c.5621del (p.Leu1874ArgfsTer5) c.5474del (p.Leu1825ArgfsTer5) c.5827del (n.5827del) c.5753del (p.Leu1918ArgfsTer5) c.5663del (p.Leu1888ArgfsTer5) c.5714del (p.Leu1905ArgfsTer5) n.6750del | ClinVar dbSNP |
18 | g.10705375A= | CA2284425240 | PIEZO2 | c.5696T= (p.Leu1899=) c.704T= (p.Leu235=) c.5960T= (p.Leu1987=) c.5621T= (p.Leu1874=) c.5474T= (p.Leu1825=) c.5827T= (n.5827T=) c.5753T= (p.Leu1918=) c.5663T= (p.Leu1888=) c.5714T= (p.Leu1905=) n.6750T= | |
18 | g.10705375A>C | CA401910285 | PIEZO2 | c.5696T>G (p.Leu1899Arg) c.704T>G (p.Leu235Arg) c.5960T>G (p.Leu1987Arg) c.5621T>G (p.Leu1874Arg) c.5474T>G (p.Leu1825Arg) c.5827T>G (n.5827T>G) c.5753T>G (p.Leu1918Arg) c.5663T>G (p.Leu1888Arg) c.5714T>G (p.Leu1905Arg) n.6750T>G | |
18 | g.10705375A>G | CA401910286 | PIEZO2 | c.5696T>C (p.Leu1899Pro) c.704T>C (p.Leu235Pro) c.5960T>C (p.Leu1987Pro) c.5621T>C (p.Leu1874Pro) c.5474T>C (p.Leu1825Pro) c.5827T>C (n.5827T>C) c.5753T>C (p.Leu1918Pro) c.5663T>C (p.Leu1888Pro) c.5714T>C (p.Leu1905Pro) n.6750T>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10705375A>T | CA401910287 | PIEZO2 | c.5696T>A (p.Leu1899Gln) c.704T>A (p.Leu235Gln) c.5960T>A (p.Leu1987Gln) c.5621T>A (p.Leu1874Gln) c.5474T>A (p.Leu1825Gln) c.5827T>A (n.5827T>A) c.5753T>A (p.Leu1918Gln) c.5663T>A (p.Leu1888Gln) c.5714T>A (p.Leu1905Gln) n.6750T>A | |
18 | g.10705376G>A | CA503243179 | PIEZO2 | c.5695C>T (p.Leu1899=) c.703C>T (p.Leu235=) c.5959C>T (p.Leu1987=) c.5620C>T (p.Leu1874=) c.5473C>T (p.Leu1825=) c.5826C>T (n.5826C>T) c.5752C>T (p.Leu1918=) c.5662C>T (p.Leu1888=) c.5713C>T (p.Leu1905=) n.6749C>T | gnomAD v4 |
18 | g.10705376G>C | CA401910289 | PIEZO2 | c.5695C>G (p.Leu1899Val) c.703C>G (p.Leu235Val) c.5959C>G (p.Leu1987Val) c.5620C>G (p.Leu1874Val) c.5473C>G (p.Leu1825Val) c.5826C>G (n.5826C>G) c.5752C>G (p.Leu1918Val) c.5662C>G (p.Leu1888Val) c.5713C>G (p.Leu1905Val) n.6749C>G | gnomAD v4 |
18 | g.10705376G>T | CA401910288 | PIEZO2 | c.5695C>A (p.Leu1899Met) c.703C>A (p.Leu235Met) c.5959C>A (p.Leu1987Met) c.5620C>A (p.Leu1874Met) c.5473C>A (p.Leu1825Met) c.5826C>A (n.5826C>A) c.5752C>A (p.Leu1918Met) c.5662C>A (p.Leu1888Met) c.5713C>A (p.Leu1905Met) n.6749C>A | |
18 | g.10705377G>A | CA503243182 | PIEZO2 | c.5694C>T (p.Pro1898=) c.702C>T (p.Pro234=) c.5958C>T (p.Pro1986=) c.5619C>T (p.Pro1873=) c.5472C>T (p.Pro1824=) c.5825C>T (n.5825C>T) c.5751C>T (p.Pro1917=) c.5661C>T (p.Pro1887=) c.5712C>T (p.Pro1904=) n.6748C>T | gnomAD v4 |
18 | g.10705377G>C | CA503243181 | PIEZO2 | c.5694C>G (p.Pro1898=) c.702C>G (p.Pro234=) c.5958C>G (p.Pro1986=) c.5619C>G (p.Pro1873=) c.5472C>G (p.Pro1824=) c.5825C>G (n.5825C>G) c.5751C>G (p.Pro1917=) c.5661C>G (p.Pro1887=) c.5712C>G (p.Pro1904=) n.6748C>G | |
18 | g.10705377G= | CA2284425241 | PIEZO2 | c.5694C= (p.Pro1898=) c.702C= (p.Pro234=) c.5958C= (p.Pro1986=) c.5619C= (p.Pro1873=) c.5472C= (p.Pro1824=) c.5825C= (n.5825C=) c.5751C= (p.Pro1917=) c.5661C= (p.Pro1887=) c.5712C= (p.Pro1904=) n.6748C= | |
18 | g.10705377G>T | CA503243180 | PIEZO2 | c.5694C>A (p.Pro1898=) c.702C>A (p.Pro234=) c.5958C>A (p.Pro1986=) c.5619C>A (p.Pro1873=) c.5472C>A (p.Pro1824=) c.5825C>A (n.5825C>A) c.5751C>A (p.Pro1917=) c.5661C>A (p.Pro1887=) c.5712C>A (p.Pro1904=) n.6748C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10705378G>A | CA401910290 | PIEZO2 | c.5693C>T (p.Pro1898Leu) c.701C>T (p.Pro234Leu) c.5957C>T (p.Pro1986Leu) c.5618C>T (p.Pro1873Leu) c.5471C>T (p.Pro1824Leu) c.5824C>T (n.5824C>T) c.5750C>T (p.Pro1917Leu) c.5660C>T (p.Pro1887Leu) c.5711C>T (p.Pro1904Leu) n.6747C>T | |
18 | g.10705378G>C | CA401910291 | PIEZO2 | c.5693C>G (p.Pro1898Arg) c.701C>G (p.Pro234Arg) c.5957C>G (p.Pro1986Arg) c.5618C>G (p.Pro1873Arg) c.5471C>G (p.Pro1824Arg) c.5824C>G (n.5824C>G) c.5750C>G (p.Pro1917Arg) c.5660C>G (p.Pro1887Arg) c.5711C>G (p.Pro1904Arg) n.6747C>G | |
18 | g.10705378G>T | CA401910292 | PIEZO2 | c.5693C>A (p.Pro1898His) c.701C>A (p.Pro234His) c.5957C>A (p.Pro1986His) c.5618C>A (p.Pro1873His) c.5471C>A (p.Pro1824His) c.5824C>A (n.5824C>A) c.5750C>A (p.Pro1917His) c.5660C>A (p.Pro1887His) c.5711C>A (p.Pro1904His) n.6747C>A | gnomAD v4 |
18 | g.10705379G>A | CA401910293 | PIEZO2 | c.5692C>T (p.Pro1898Ser) c.700C>T (p.Pro234Ser) c.5956C>T (p.Pro1986Ser) c.5617C>T (p.Pro1873Ser) c.5470C>T (p.Pro1824Ser) c.5823C>T (n.5823C>T) c.5749C>T (p.Pro1917Ser) c.5659C>T (p.Pro1887Ser) c.5710C>T (p.Pro1904Ser) n.6746C>T | |
18 | g.10705379G>C | CA401910294 | PIEZO2 | c.5692C>G (p.Pro1898Ala) c.700C>G (p.Pro234Ala) c.5956C>G (p.Pro1986Ala) c.5617C>G (p.Pro1873Ala) c.5470C>G (p.Pro1824Ala) c.5823C>G (n.5823C>G) c.5749C>G (p.Pro1917Ala) c.5659C>G (p.Pro1887Ala) c.5710C>G (p.Pro1904Ala) n.6746C>G | |
18 | g.10705379G>T | CA401910295 | PIEZO2 | c.5692C>A (p.Pro1898Thr) c.700C>A (p.Pro234Thr) c.5956C>A (p.Pro1986Thr) c.5617C>A (p.Pro1873Thr) c.5470C>A (p.Pro1824Thr) c.5823C>A (n.5823C>A) c.5749C>A (p.Pro1917Thr) c.5659C>A (p.Pro1887Thr) c.5710C>A (p.Pro1904Thr) n.6746C>A | |
18 | g.10705380A>C | CA503243183 | PIEZO2 | c.5691T>G (p.Pro1897=) c.699T>G (p.Pro233=) c.5955T>G (p.Pro1985=) c.5616T>G (p.Pro1872=) c.5469T>G (p.Pro1823=) c.5822T>G (n.5822T>G) c.5748T>G (p.Pro1916=) c.5658T>G (p.Pro1886=) c.5709T>G (p.Pro1903=) n.6745T>G | |
18 | g.10705380A>G | CA503243185 | PIEZO2 | c.5691T>C (p.Pro1897=) c.699T>C (p.Pro233=) c.5955T>C (p.Pro1985=) c.5616T>C (p.Pro1872=) c.5469T>C (p.Pro1823=) c.5822T>C (n.5822T>C) c.5748T>C (p.Pro1916=) c.5658T>C (p.Pro1886=) c.5709T>C (p.Pro1903=) n.6745T>C | |
18 | g.10705380A>T | CA503243184 | PIEZO2 | c.5691T>A (p.Pro1897=) c.699T>A (p.Pro233=) c.5955T>A (p.Pro1985=) c.5616T>A (p.Pro1872=) c.5469T>A (p.Pro1823=) c.5822T>A (n.5822T>A) c.5748T>A (p.Pro1916=) c.5658T>A (p.Pro1886=) c.5709T>A (p.Pro1903=) n.6745T>A | |
18 | g.10705381G>A | CA401910296 | PIEZO2 | c.5690C>T (p.Pro1897Leu) c.698C>T (p.Pro233Leu) c.5954C>T (p.Pro1985Leu) c.5615C>T (p.Pro1872Leu) c.5468C>T (p.Pro1823Leu) c.5821C>T (n.5821C>T) c.5747C>T (p.Pro1916Leu) c.5657C>T (p.Pro1886Leu) c.5708C>T (p.Pro1903Leu) n.6744C>T | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10705381G>C | CA401910298 | PIEZO2 | c.5690C>G (p.Pro1897Arg) c.698C>G (p.Pro233Arg) c.5954C>G (p.Pro1985Arg) c.5615C>G (p.Pro1872Arg) c.5468C>G (p.Pro1823Arg) c.5821C>G (n.5821C>G) c.5747C>G (p.Pro1916Arg) c.5657C>G (p.Pro1886Arg) c.5708C>G (p.Pro1903Arg) n.6744C>G | |
18 | g.10705381G= | CA2284425242 | PIEZO2 | c.5690C= (p.Pro1897=) c.698C= (p.Pro233=) c.5954C= (p.Pro1985=) c.5615C= (p.Pro1872=) c.5468C= (p.Pro1823=) c.5821C= (n.5821C=) c.5747C= (p.Pro1916=) c.5657C= (p.Pro1886=) c.5708C= (p.Pro1903=) n.6744C= | |
18 | g.10705381G>T | CA401910297 | PIEZO2 | c.5690C>A (p.Pro1897His) c.698C>A (p.Pro233His) c.5954C>A (p.Pro1985His) c.5615C>A (p.Pro1872His) c.5468C>A (p.Pro1823His) c.5821C>A (n.5821C>A) c.5747C>A (p.Pro1916His) c.5657C>A (p.Pro1886His) c.5708C>A (p.Pro1903His) n.6744C>A | |
18 | g.10705382G>A | CA401910299 | PIEZO2 | c.5689C>T (p.Pro1897Ser) c.697C>T (p.Pro233Ser) c.5953C>T (p.Pro1985Ser) c.5614C>T (p.Pro1872Ser) c.5467C>T (p.Pro1823Ser) c.5820C>T (n.5820C>T) c.5746C>T (p.Pro1916Ser) c.5656C>T (p.Pro1886Ser) c.5707C>T (p.Pro1903Ser) n.6743C>T | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10705382G>C | CA401910300 | PIEZO2 | c.5689C>G (p.Pro1897Ala) c.697C>G (p.Pro233Ala) c.5953C>G (p.Pro1985Ala) c.5614C>G (p.Pro1872Ala) c.5467C>G (p.Pro1823Ala) c.5820C>G (n.5820C>G) c.5746C>G (p.Pro1916Ala) c.5656C>G (p.Pro1886Ala) c.5707C>G (p.Pro1903Ala) n.6743C>G | |
18 | g.10705382G= | CA2284425243 | PIEZO2 | c.5689C= (p.Pro1897=) c.697C= (p.Pro233=) c.5953C= (p.Pro1985=) c.5614C= (p.Pro1872=) c.5467C= (p.Pro1823=) c.5820C= (n.5820C=) c.5746C= (p.Pro1916=) c.5656C= (p.Pro1886=) c.5707C= (p.Pro1903=) n.6743C= | |
18 | g.10705382G>T | CA401910301 | PIEZO2 | c.5689C>A (p.Pro1897Thr) c.697C>A (p.Pro233Thr) c.5953C>A (p.Pro1985Thr) c.5614C>A (p.Pro1872Thr) c.5467C>A (p.Pro1823Thr) c.5820C>A (n.5820C>A) c.5746C>A (p.Pro1916Thr) c.5656C>A (p.Pro1886Thr) c.5707C>A (p.Pro1903Thr) n.6743C>A | |
18 | g.10705383T>A | CA401910302 | PIEZO2 | c.5688A>T (p.Leu1896Phe) c.696A>T (p.Leu232Phe) c.5952A>T (p.Leu1984Phe) c.5613A>T (p.Leu1871Phe) c.5466A>T (p.Leu1822Phe) c.5819A>T (n.5819A>T) c.5745A>T (p.Leu1915Phe) c.5655A>T (p.Leu1885Phe) c.5706A>T (p.Leu1902Phe) n.6742A>T | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10705383T>C | CA295991230 | PIEZO2 | c.5688A>G (p.Leu1896=) c.696A>G (p.Leu232=) c.5952A>G (p.Leu1984=) c.5613A>G (p.Leu1871=) c.5466A>G (p.Leu1822=) c.5819A>G (n.5819A>G) c.5745A>G (p.Leu1915=) c.5655A>G (p.Leu1885=) c.5706A>G (p.Leu1902=) n.6742A>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10705383T>G | CA401910303 | PIEZO2 | c.5688A>C (p.Leu1896Phe) c.696A>C (p.Leu232Phe) c.5952A>C (p.Leu1984Phe) c.5613A>C (p.Leu1871Phe) c.5466A>C (p.Leu1822Phe) c.5819A>C (n.5819A>C) c.5745A>C (p.Leu1915Phe) c.5655A>C (p.Leu1885Phe) c.5706A>C (p.Leu1902Phe) n.6742A>C | dbSNP |
18 | g.10705383T= | CA2284425244 | PIEZO2 | c.5688A= (p.Leu1896=) c.696A= (p.Leu232=) c.5952A= (p.Leu1984=) c.5613A= (p.Leu1871=) c.5466A= (p.Leu1822=) c.5819A= (n.5819A=) c.5745A= (p.Leu1915=) c.5655A= (p.Leu1885=) c.5706A= (p.Leu1902=) n.6742A= | |
18 | g.10705384A>C | CA401910304 | PIEZO2 | c.5687T>G (p.Leu1896Ter) c.695T>G (p.Leu232Ter) c.5951T>G (p.Leu1984Ter) c.5612T>G (p.Leu1871Ter) c.5465T>G (p.Leu1822Ter) c.5818T>G (n.5818T>G) c.5744T>G (p.Leu1915Ter) c.5654T>G (p.Leu1885Ter) c.5705T>G (p.Leu1902Ter) n.6741T>G | |
18 | g.10705384A>G | CA401910305 | PIEZO2 | c.5687T>C (p.Leu1896Ser) c.695T>C (p.Leu232Ser) c.5951T>C (p.Leu1984Ser) c.5612T>C (p.Leu1871Ser) c.5465T>C (p.Leu1822Ser) c.5818T>C (n.5818T>C) c.5744T>C (p.Leu1915Ser) c.5654T>C (p.Leu1885Ser) c.5705T>C (p.Leu1902Ser) n.6741T>C | gnomAD v4 |
18 | g.10705384A>T | CA401910306 | PIEZO2 | c.5687T>A (p.Leu1896Ter) c.695T>A (p.Leu232Ter) c.5951T>A (p.Leu1984Ter) c.5612T>A (p.Leu1871Ter) c.5465T>A (p.Leu1822Ter) c.5818T>A (n.5818T>A) c.5744T>A (p.Leu1915Ter) c.5654T>A (p.Leu1885Ter) c.5705T>A (p.Leu1902Ter) n.6741T>A | |
18 | g.10705385A>C | CA401910307 | PIEZO2 | c.5686T>G (p.Leu1896Val) c.694T>G (p.Leu232Val) c.5950T>G (p.Leu1984Val) c.5611T>G (p.Leu1871Val) c.5464T>G (p.Leu1822Val) c.5817T>G (n.5817T>G) c.5743T>G (p.Leu1915Val) c.5653T>G (p.Leu1885Val) c.5704T>G (p.Leu1902Val) n.6740T>G | |
18 | g.10705385A>G | CA503243190 | PIEZO2 | c.5686T>C (p.Leu1896=) c.694T>C (p.Leu232=) c.5950T>C (p.Leu1984=) c.5611T>C (p.Leu1871=) c.5464T>C (p.Leu1822=) c.5817T>C (n.5817T>C) c.5743T>C (p.Leu1915=) c.5653T>C (p.Leu1885=) c.5704T>C (p.Leu1902=) n.6740T>C | |
18 | g.10705385A>T | CA401910308 | PIEZO2 | c.5686T>A (p.Leu1896Ile) c.694T>A (p.Leu232Ile) c.5950T>A (p.Leu1984Ile) c.5611T>A (p.Leu1871Ile) c.5464T>A (p.Leu1822Ile) c.5817T>A (n.5817T>A) c.5743T>A (p.Leu1915Ile) c.5653T>A (p.Leu1885Ile) c.5704T>A (p.Leu1902Ile) n.6740T>A | |
18 | g.10705386G>A | CA503243191 | PIEZO2 | c.5685C>T (p.Ile1895=) c.693C>T (p.Ile231=) c.5949C>T (p.Ile1983=) c.5610C>T (p.Ile1870=) c.5463C>T (p.Ile1821=) c.5816C>T (n.5816C>T) c.5742C>T (p.Ile1914=) c.5652C>T (p.Ile1884=) c.5703C>T (p.Ile1901=) n.6739C>T | |
18 | g.10705386G>C | CA401910309 | PIEZO2 | c.5685C>G (p.Ile1895Met) c.693C>G (p.Ile231Met) c.5949C>G (p.Ile1983Met) c.5610C>G (p.Ile1870Met) c.5463C>G (p.Ile1821Met) c.5816C>G (n.5816C>G) c.5742C>G (p.Ile1914Met) c.5652C>G (p.Ile1884Met) c.5703C>G (p.Ile1901Met) n.6739C>G | |
18 | g.10705386G>T | CA503243193 | PIEZO2 | c.5685C>A (p.Ile1895=) c.693C>A (p.Ile231=) c.5949C>A (p.Ile1983=) c.5610C>A (p.Ile1870=) c.5463C>A (p.Ile1821=) c.5816C>A (n.5816C>A) c.5742C>A (p.Ile1914=) c.5652C>A (p.Ile1884=) c.5703C>A (p.Ile1901=) n.6739C>A | |
18 | g.10705387A>C | CA401910310 | PIEZO2 | c.5684T>G (p.Ile1895Ser) c.692T>G (p.Ile231Ser) c.5948T>G (p.Ile1983Ser) c.5609T>G (p.Ile1870Ser) c.5462T>G (p.Ile1821Ser) c.5815T>G (n.5815T>G) c.5741T>G (p.Ile1914Ser) c.5651T>G (p.Ile1884Ser) c.5702T>G (p.Ile1901Ser) n.6738T>G | |
18 | g.10705387A>G | CA401910312 | PIEZO2 | c.5684T>C (p.Ile1895Thr) c.692T>C (p.Ile231Thr) c.5948T>C (p.Ile1983Thr) c.5609T>C (p.Ile1870Thr) c.5462T>C (p.Ile1821Thr) c.5815T>C (n.5815T>C) c.5741T>C (p.Ile1914Thr) c.5651T>C (p.Ile1884Thr) c.5702T>C (p.Ile1901Thr) n.6738T>C | gnomAD v4 |
18 | g.10705387A>T | CA401910311 | PIEZO2 | c.5684T>A (p.Ile1895Asn) c.692T>A (p.Ile231Asn) c.5948T>A (p.Ile1983Asn) c.5609T>A (p.Ile1870Asn) c.5462T>A (p.Ile1821Asn) c.5815T>A (n.5815T>A) c.5741T>A (p.Ile1914Asn) c.5651T>A (p.Ile1884Asn) c.5702T>A (p.Ile1901Asn) n.6738T>A | gnomAD v4 |
18 | g.10705388T>A | CA401910313 | PIEZO2 | c.5683A>T (p.Ile1895Phe) c.691A>T (p.Ile231Phe) c.5947A>T (p.Ile1983Phe) c.5608A>T (p.Ile1870Phe) c.5461A>T (p.Ile1821Phe) c.5814A>T (n.5814A>T) c.5740A>T (p.Ile1914Phe) c.5650A>T (p.Ile1884Phe) c.5701A>T (p.Ile1901Phe) n.6737A>T | dbSNP gnomAD v2 |
18 | g.10705388T>C | CA401910314 | PIEZO2 | c.5683A>G (p.Ile1895Val) c.691A>G (p.Ile231Val) c.5947A>G (p.Ile1983Val) c.5608A>G (p.Ile1870Val) c.5461A>G (p.Ile1821Val) c.5814A>G (n.5814A>G) c.5740A>G (p.Ile1914Val) c.5650A>G (p.Ile1884Val) c.5701A>G (p.Ile1901Val) n.6737A>G | gnomAD v4 |
18 | g.10705388T>G | CA401910315 | PIEZO2 | c.5683A>C (p.Ile1895Leu) c.691A>C (p.Ile231Leu) c.5947A>C (p.Ile1983Leu) c.5608A>C (p.Ile1870Leu) c.5461A>C (p.Ile1821Leu) c.5814A>C (n.5814A>C) c.5740A>C (p.Ile1914Leu) c.5650A>C (p.Ile1884Leu) c.5701A>C (p.Ile1901Leu) n.6737A>C | |
18 | g.10705388T= | CA2284425245 | PIEZO2 | c.5683A= (p.Ile1895=) c.691A= (p.Ile231=) c.5947A= (p.Ile1983=) c.5608A= (p.Ile1870=) c.5461A= (p.Ile1821=) c.5814A= (n.5814A=) c.5740A= (p.Ile1914=) c.5650A= (p.Ile1884=) c.5701A= (p.Ile1901=) n.6737A= | |
18 | g.10705389G>A | CA503243196 | PIEZO2 | c.5682C>T (p.Ser1894=) c.690C>T (p.Ser230=) c.5946C>T (p.Ser1982=) c.5607C>T (p.Ser1869=) c.5460C>T (p.Ser1820=) c.5813C>T (n.5813C>T) c.5739C>T (p.Ser1913=) c.5649C>T (p.Ser1883=) c.5700C>T (p.Ser1900=) n.6736C>T | dbSNP gnomAD v2 |
18 | g.10705389G>C | CA401910316 | PIEZO2 | c.5682C>G (p.Ser1894Arg) c.690C>G (p.Ser230Arg) c.5946C>G (p.Ser1982Arg) c.5607C>G (p.Ser1869Arg) c.5460C>G (p.Ser1820Arg) c.5813C>G (n.5813C>G) c.5739C>G (p.Ser1913Arg) c.5649C>G (p.Ser1883Arg) c.5700C>G (p.Ser1900Arg) n.6736C>G | |
18 | g.10705389G= | CA2284425246 | PIEZO2 | c.5682C= (p.Ser1894=) c.690C= (p.Ser230=) c.5946C= (p.Ser1982=) c.5607C= (p.Ser1869=) c.5460C= (p.Ser1820=) c.5813C= (n.5813C=) c.5739C= (p.Ser1913=) c.5649C= (p.Ser1883=) c.5700C= (p.Ser1900=) n.6736C= | |
18 | g.10705389G>T | CA401910317 | PIEZO2 | c.5682C>A (p.Ser1894Arg) c.690C>A (p.Ser230Arg) c.5946C>A (p.Ser1982Arg) c.5607C>A (p.Ser1869Arg) c.5460C>A (p.Ser1820Arg) c.5813C>A (n.5813C>A) c.5739C>A (p.Ser1913Arg) c.5649C>A (p.Ser1883Arg) c.5700C>A (p.Ser1900Arg) n.6736C>A | |
18 | g.10705390C>A | CA401910318 | PIEZO2 | c.5681G>T (p.Ser1894Ile) c.689G>T (p.Ser230Ile) c.5945G>T (p.Ser1982Ile) c.5606G>T (p.Ser1869Ile) c.5459G>T (p.Ser1820Ile) c.5812G>T (n.5812G>T) c.5738G>T (p.Ser1913Ile) c.5648G>T (p.Ser1883Ile) c.5699G>T (p.Ser1900Ile) n.6735G>T | |
18 | g.10705390C>G | CA401910319 | PIEZO2 | c.5681G>C (p.Ser1894Thr) c.689G>C (p.Ser230Thr) c.5945G>C (p.Ser1982Thr) c.5606G>C (p.Ser1869Thr) c.5459G>C (p.Ser1820Thr) c.5812G>C (n.5812G>C) c.5738G>C (p.Ser1913Thr) c.5648G>C (p.Ser1883Thr) c.5699G>C (p.Ser1900Thr) n.6735G>C | gnomAD v4 |
18 | g.10705390C>T | CA401910320 | PIEZO2 | c.5681G>A (p.Ser1894Asn) c.689G>A (p.Ser230Asn) c.5945G>A (p.Ser1982Asn) c.5606G>A (p.Ser1869Asn) c.5459G>A (p.Ser1820Asn) c.5812G>A (n.5812G>A) c.5738G>A (p.Ser1913Asn) c.5648G>A (p.Ser1883Asn) c.5699G>A (p.Ser1900Asn) n.6735G>A | gnomAD v4 |
18 | g.10705391T>A | CA401910321 | PIEZO2 | c.5680A>T (p.Ser1894Cys) c.688A>T (p.Ser230Cys) c.5944A>T (p.Ser1982Cys) c.5605A>T (p.Ser1869Cys) c.5458A>T (p.Ser1820Cys) c.5811A>T (n.5811A>T) c.5737A>T (p.Ser1913Cys) c.5647A>T (p.Ser1883Cys) c.5698A>T (p.Ser1900Cys) n.6734A>T | |
18 | g.10705391T>C | CA401910322 | PIEZO2 | c.5680A>G (p.Ser1894Gly) c.688A>G (p.Ser230Gly) c.5944A>G (p.Ser1982Gly) c.5605A>G (p.Ser1869Gly) c.5458A>G (p.Ser1820Gly) c.5811A>G (n.5811A>G) c.5737A>G (p.Ser1913Gly) c.5647A>G (p.Ser1883Gly) c.5698A>G (p.Ser1900Gly) n.6734A>G | |
18 | g.10705391T>G | CA401910323 | PIEZO2 | c.5680A>C (p.Ser1894Arg) c.688A>C (p.Ser230Arg) c.5944A>C (p.Ser1982Arg) c.5605A>C (p.Ser1869Arg) c.5458A>C (p.Ser1820Arg) c.5811A>C (n.5811A>C) c.5737A>C (p.Ser1913Arg) c.5647A>C (p.Ser1883Arg) c.5698A>C (p.Ser1900Arg) n.6734A>C | gnomAD v4 |
18 | g.10705392G>A | CA503243200 | PIEZO2 | c.5679C>T (p.Ser1893=) c.687C>T (p.Ser229=) c.5943C>T (p.Ser1981=) c.5604C>T (p.Ser1868=) c.5457C>T (p.Ser1819=) c.5810C>T (n.5810C>T) c.5736C>T (p.Ser1912=) c.5646C>T (p.Ser1882=) c.5697C>T (p.Ser1899=) n.6733C>T | |
18 | g.10705392G>C | CA503243201 | PIEZO2 | c.5679C>G (p.Ser1893=) c.687C>G (p.Ser229=) c.5943C>G (p.Ser1981=) c.5604C>G (p.Ser1868=) c.5457C>G (p.Ser1819=) c.5810C>G (n.5810C>G) c.5736C>G (p.Ser1912=) c.5646C>G (p.Ser1882=) c.5697C>G (p.Ser1899=) n.6733C>G | |
18 | g.10705392G>T | CA503243202 | PIEZO2 | c.5679C>A (p.Ser1893=) c.687C>A (p.Ser229=) c.5943C>A (p.Ser1981=) c.5604C>A (p.Ser1868=) c.5457C>A (p.Ser1819=) c.5810C>A (n.5810C>A) c.5736C>A (p.Ser1912=) c.5646C>A (p.Ser1882=) c.5697C>A (p.Ser1899=) n.6733C>A | |
18 | g.10705393G>A | CA401910326 | PIEZO2 | c.5678C>T (p.Ser1893Phe) c.686C>T (p.Ser229Phe) c.5942C>T (p.Ser1981Phe) c.5603C>T (p.Ser1868Phe) c.5456C>T (p.Ser1819Phe) c.5809C>T (n.5809C>T) c.5735C>T (p.Ser1912Phe) c.5645C>T (p.Ser1882Phe) c.5696C>T (p.Ser1899Phe) n.6732C>T | gnomAD v4 |
18 | g.10705393G>C | CA401910325 | PIEZO2 | c.5678C>G (p.Ser1893Cys) c.686C>G (p.Ser229Cys) c.5942C>G (p.Ser1981Cys) c.5603C>G (p.Ser1868Cys) c.5456C>G (p.Ser1819Cys) c.5809C>G (n.5809C>G) c.5735C>G (p.Ser1912Cys) c.5645C>G (p.Ser1882Cys) c.5696C>G (p.Ser1899Cys) n.6732C>G | |
18 | g.10705393G>T | CA401910324 | PIEZO2 | c.5678C>A (p.Ser1893Tyr) c.686C>A (p.Ser229Tyr) c.5942C>A (p.Ser1981Tyr) c.5603C>A (p.Ser1868Tyr) c.5456C>A (p.Ser1819Tyr) c.5809C>A (n.5809C>A) c.5735C>A (p.Ser1912Tyr) c.5645C>A (p.Ser1882Tyr) c.5696C>A (p.Ser1899Tyr) n.6732C>A | |
18 | g.10705394A>C | CA401910327 | PIEZO2 | c.5677T>G (p.Ser1893Ala) c.685T>G (p.Ser229Ala) c.5941T>G (p.Ser1981Ala) c.5602T>G (p.Ser1868Ala) c.5455T>G (p.Ser1819Ala) c.5808T>G (n.5808T>G) c.5734T>G (p.Ser1912Ala) c.5644T>G (p.Ser1882Ala) c.5695T>G (p.Ser1899Ala) n.6731T>G | |
18 | g.10705394A>G | CA401910328 | PIEZO2 | c.5677T>C (p.Ser1893Pro) c.685T>C (p.Ser229Pro) c.5941T>C (p.Ser1981Pro) c.5602T>C (p.Ser1868Pro) c.5455T>C (p.Ser1819Pro) c.5808T>C (n.5808T>C) c.5734T>C (p.Ser1912Pro) c.5644T>C (p.Ser1882Pro) c.5695T>C (p.Ser1899Pro) n.6731T>C | |
18 | g.10705394A>T | CA401910329 | PIEZO2 | c.5677T>A (p.Ser1893Thr) c.685T>A (p.Ser229Thr) c.5941T>A (p.Ser1981Thr) c.5602T>A (p.Ser1868Thr) c.5455T>A (p.Ser1819Thr) c.5808T>A (n.5808T>A) c.5734T>A (p.Ser1912Thr) c.5644T>A (p.Ser1882Thr) c.5695T>A (p.Ser1899Thr) n.6731T>A | |
18 | g.10705395C>A | CA503243204 | PIEZO2 | c.5676G>T (p.Gly1892=) c.684G>T (p.Gly228=) c.5940G>T (p.Gly1980=) c.5601G>T (p.Gly1867=) c.5454G>T (p.Gly1818=) c.5807G>T (n.5807G>T) c.5733G>T (p.Gly1911=) c.5643G>T (p.Gly1881=) c.5694G>T (p.Gly1898=) n.6730G>T | gnomAD v4 |
18 | g.10705395C= | CA2284425247 | PIEZO2 | c.5676G= (p.Gly1892=) c.684G= (p.Gly228=) c.5940G= (p.Gly1980=) c.5601G= (p.Gly1867=) c.5454G= (p.Gly1818=) c.5807G= (n.5807G=) c.5733G= (p.Gly1911=) c.5643G= (p.Gly1881=) c.5694G= (p.Gly1898=) n.6730G= | |
18 | g.10705395C>G | CA503243203 | PIEZO2 | c.5676G>C (p.Gly1892=) c.684G>C (p.Gly228=) c.5940G>C (p.Gly1980=) c.5601G>C (p.Gly1867=) c.5454G>C (p.Gly1818=) c.5807G>C (n.5807G>C) c.5733G>C (p.Gly1911=) c.5643G>C (p.Gly1881=) c.5694G>C (p.Gly1898=) n.6730G>C | |
18 | g.10705395C>T | CA8892291 | PIEZO2 | c.5676G>A (p.Gly1892=) c.684G>A (p.Gly228=) c.5940G>A (p.Gly1980=) c.5601G>A (p.Gly1867=) c.5454G>A (p.Gly1818=) c.5807G>A (n.5807G>A) c.5733G>A (p.Gly1911=) c.5643G>A (p.Gly1881=) c.5694G>A (p.Gly1898=) n.6730G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.10705397_10705398del | CA2810960013 | PIEZO2 | c.5675_5676del (p.Gly1892ValfsTer10) c.683_684del (p.Gly228ValfsTer10) c.5939_5940del (p.Gly1980ValfsTer10) c.5600_5601del (p.Gly1867ValfsTer10) c.5453_5454del (p.Gly1818ValfsTer10) c.5806_5807del (n.5806_5807del) c.5732_5733del (p.Gly1911ValfsTer10) c.5642_5643del (p.Gly1881ValfsTer10) c.5693_5694del (p.Gly1898ValfsTer10) n.6729_6730del | |
18 | g.10705396C>A | CA401910330 | PIEZO2 | c.5675G>T (p.Gly1892Val) c.683G>T (p.Gly228Val) c.5939G>T (p.Gly1980Val) c.5600G>T (p.Gly1867Val) c.5453G>T (p.Gly1818Val) c.5806G>T (n.5806G>T) c.5732G>T (p.Gly1911Val) c.5642G>T (p.Gly1881Val) c.5693G>T (p.Gly1898Val) n.6729G>T | |
18 | g.10705396C= | CA2284425248 | PIEZO2 | c.5675G= (p.Gly1892=) c.683G= (p.Gly228=) c.5939G= (p.Gly1980=) c.5600G= (p.Gly1867=) c.5453G= (p.Gly1818=) c.5806G= (n.5806G=) c.5732G= (p.Gly1911=) c.5642G= (p.Gly1881=) c.5693G= (p.Gly1898=) n.6729G= | |
18 | g.10705396C>G | CA401910331 | PIEZO2 | c.5675G>C (p.Gly1892Ala) c.683G>C (p.Gly228Ala) c.5939G>C (p.Gly1980Ala) c.5600G>C (p.Gly1867Ala) c.5453G>C (p.Gly1818Ala) c.5806G>C (n.5806G>C) c.5732G>C (p.Gly1911Ala) c.5642G>C (p.Gly1881Ala) c.5693G>C (p.Gly1898Ala) n.6729G>C | dbSNP gnomAD v4 |
18 | g.10705396C>T | CA8892292 | PIEZO2 | c.5675G>A (p.Gly1892Glu) c.683G>A (p.Gly228Glu) c.5939G>A (p.Gly1980Glu) c.5600G>A (p.Gly1867Glu) c.5453G>A (p.Gly1818Glu) c.5806G>A (n.5806G>A) c.5732G>A (p.Gly1911Glu) c.5642G>A (p.Gly1881Glu) c.5693G>A (p.Gly1898Glu) n.6729G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10705397C>A | CA401910332 | PIEZO2 | c.5674G>T (p.Gly1892Trp) c.682G>T (p.Gly228Trp) c.5938G>T (p.Gly1980Trp) c.5599G>T (p.Gly1867Trp) c.5452G>T (p.Gly1818Trp) c.5805G>T (n.5805G>T) c.5731G>T (p.Gly1911Trp) c.5641G>T (p.Gly1881Trp) c.5692G>T (p.Gly1898Trp) n.6728G>T | |
18 | g.10705397C>G | CA401910333 | PIEZO2 | c.5674G>C (p.Gly1892Arg) c.682G>C (p.Gly228Arg) c.5938G>C (p.Gly1980Arg) c.5599G>C (p.Gly1867Arg) c.5452G>C (p.Gly1818Arg) c.5805G>C (n.5805G>C) c.5731G>C (p.Gly1911Arg) c.5641G>C (p.Gly1881Arg) c.5692G>C (p.Gly1898Arg) n.6728G>C | |
18 | g.10705397C>T | CA401910334 | PIEZO2 | c.5674G>A (p.Gly1892Arg) c.682G>A (p.Gly228Arg) c.5938G>A (p.Gly1980Arg) c.5599G>A (p.Gly1867Arg) c.5452G>A (p.Gly1818Arg) c.5805G>A (n.5805G>A) c.5731G>A (p.Gly1911Arg) c.5641G>A (p.Gly1881Arg) c.5692G>A (p.Gly1898Arg) n.6728G>A | |
18 | g.10705398C>A | CA503243209 | PIEZO2 | c.5673G>T (p.Leu1891=) c.681G>T (p.Leu227=) c.5937G>T (p.Leu1979=) c.5598G>T (p.Leu1866=) c.5451G>T (p.Leu1817=) c.5804G>T (n.5804G>T) c.5730G>T (p.Leu1910=) c.5640G>T (p.Leu1880=) c.5691G>T (p.Leu1897=) n.6727G>T | |
18 | g.10705398C>G | CA503243208 | PIEZO2 | c.5673G>C (p.Leu1891=) c.681G>C (p.Leu227=) c.5937G>C (p.Leu1979=) c.5598G>C (p.Leu1866=) c.5451G>C (p.Leu1817=) c.5804G>C (n.5804G>C) c.5730G>C (p.Leu1910=) c.5640G>C (p.Leu1880=) c.5691G>C (p.Leu1897=) n.6727G>C | |
18 | g.10705398C>T | CA503243207 | PIEZO2 | c.5673G>A (p.Leu1891=) c.681G>A (p.Leu227=) c.5937G>A (p.Leu1979=) c.5598G>A (p.Leu1866=) c.5451G>A (p.Leu1817=) c.5804G>A (n.5804G>A) c.5730G>A (p.Leu1910=) c.5640G>A (p.Leu1880=) c.5691G>A (p.Leu1897=) n.6727G>A | |
18 | g.10705399A= | CA2284425249 | PIEZO2 | c.5672T= (p.Leu1891=) c.680T= (p.Leu227=) c.5936T= (p.Leu1979=) c.5597T= (p.Leu1866=) c.5450T= (p.Leu1817=) c.5803T= (n.5803T=) c.5729T= (p.Leu1910=) c.5639T= (p.Leu1880=) c.5690T= (p.Leu1897=) n.6726T= | |
18 | g.10705399A>C | CA401910335 | PIEZO2 | c.5672T>G (p.Leu1891Arg) c.680T>G (p.Leu227Arg) c.5936T>G (p.Leu1979Arg) c.5597T>G (p.Leu1866Arg) c.5450T>G (p.Leu1817Arg) c.5803T>G (n.5803T>G) c.5729T>G (p.Leu1910Arg) c.5639T>G (p.Leu1880Arg) c.5690T>G (p.Leu1897Arg) n.6726T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10705399A>G | CA401910336 | PIEZO2 | c.5672T>C (p.Leu1891Pro) c.680T>C (p.Leu227Pro) c.5936T>C (p.Leu1979Pro) c.5597T>C (p.Leu1866Pro) c.5450T>C (p.Leu1817Pro) c.5803T>C (n.5803T>C) c.5729T>C (p.Leu1910Pro) c.5639T>C (p.Leu1880Pro) c.5690T>C (p.Leu1897Pro) n.6726T>C | |
18 | g.10705399A>T | CA401910337 | PIEZO2 | c.5672T>A (p.Leu1891Gln) c.680T>A (p.Leu227Gln) c.5936T>A (p.Leu1979Gln) c.5597T>A (p.Leu1866Gln) c.5450T>A (p.Leu1817Gln) c.5803T>A (n.5803T>A) c.5729T>A (p.Leu1910Gln) c.5639T>A (p.Leu1880Gln) c.5690T>A (p.Leu1897Gln) n.6726T>A | |
18 | g.10705400G>A | CA503243211 | PIEZO2 | c.5671C>T (p.Leu1891=) c.679C>T (p.Leu227=) c.5935C>T (p.Leu1979=) c.5596C>T (p.Leu1866=) c.5449C>T (p.Leu1817=) c.5802C>T (n.5802C>T) c.5728C>T (p.Leu1910=) c.5638C>T (p.Leu1880=) c.5689C>T (p.Leu1897=) n.6725C>T | gnomAD v4 |
18 | g.10705400G>C | CA401910338 | PIEZO2 | c.5671C>G (p.Leu1891Val) c.679C>G (p.Leu227Val) c.5935C>G (p.Leu1979Val) c.5596C>G (p.Leu1866Val) c.5449C>G (p.Leu1817Val) c.5802C>G (n.5802C>G) c.5728C>G (p.Leu1910Val) c.5638C>G (p.Leu1880Val) c.5689C>G (p.Leu1897Val) n.6725C>G | |
18 | g.10705400G>T | CA401910339 | PIEZO2 | c.5671C>A (p.Leu1891Met) c.679C>A (p.Leu227Met) c.5935C>A (p.Leu1979Met) c.5596C>A (p.Leu1866Met) c.5449C>A (p.Leu1817Met) c.5802C>A (n.5802C>A) c.5728C>A (p.Leu1910Met) c.5638C>A (p.Leu1880Met) c.5689C>A (p.Leu1897Met) n.6725C>A | |
18 | g.10705401C>A | CA401910340 | PIEZO2 | c.5670G>T (p.Lys1890Asn) c.678G>T (p.Lys226Asn) c.5934G>T (p.Lys1978Asn) c.5595G>T (p.Lys1865Asn) c.5448G>T (p.Lys1816Asn) c.5801G>T (n.5801G>T) c.5727G>T (p.Lys1909Asn) c.5637G>T (p.Lys1879Asn) c.5688G>T (p.Lys1896Asn) n.6724G>T | COSMIC |
18 | g.10705401C= | CA2284425250 | PIEZO2 | c.5670G= (p.Lys1890=) c.678G= (p.Lys226=) c.5934G= (p.Lys1978=) c.5595G= (p.Lys1865=) c.5448G= (p.Lys1816=) c.5801G= (n.5801G=) c.5727G= (p.Lys1909=) c.5637G= (p.Lys1879=) c.5688G= (p.Lys1896=) n.6724G= | |
18 | g.10705401C>G | CA401910341 | PIEZO2 | c.5670G>C (p.Lys1890Asn) c.678G>C (p.Lys226Asn) c.5934G>C (p.Lys1978Asn) c.5595G>C (p.Lys1865Asn) c.5448G>C (p.Lys1816Asn) c.5801G>C (n.5801G>C) c.5727G>C (p.Lys1909Asn) c.5637G>C (p.Lys1879Asn) c.5688G>C (p.Lys1896Asn) n.6724G>C | |
18 | g.10705401C>T | CA503243213 | PIEZO2 | c.5670G>A (p.Lys1890=) c.678G>A (p.Lys226=) c.5934G>A (p.Lys1978=) c.5595G>A (p.Lys1865=) c.5448G>A (p.Lys1816=) c.5801G>A (n.5801G>A) c.5727G>A (p.Lys1909=) c.5637G>A (p.Lys1879=) c.5688G>A (p.Lys1896=) n.6724G>A | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10705402T>A | CA401910342 | PIEZO2 | c.5669A>T (p.Lys1890Met) c.677A>T (p.Lys226Met) c.5933A>T (p.Lys1978Met) c.5594A>T (p.Lys1865Met) c.5447A>T (p.Lys1816Met) c.5800A>T (n.5800A>T) c.5726A>T (p.Lys1909Met) c.5636A>T (p.Lys1879Met) c.5687A>T (p.Lys1896Met) n.6723A>T | |
18 | g.10705402T>C | CA401910344 | PIEZO2 | c.5669A>G (p.Lys1890Arg) c.677A>G (p.Lys226Arg) c.5933A>G (p.Lys1978Arg) c.5594A>G (p.Lys1865Arg) c.5447A>G (p.Lys1816Arg) c.5800A>G (n.5800A>G) c.5726A>G (p.Lys1909Arg) c.5636A>G (p.Lys1879Arg) c.5687A>G (p.Lys1896Arg) n.6723A>G | gnomAD v4 |
18 | g.10705402T>G | CA401910343 | PIEZO2 | c.5669A>C (p.Lys1890Thr) c.677A>C (p.Lys226Thr) c.5933A>C (p.Lys1978Thr) c.5594A>C (p.Lys1865Thr) c.5447A>C (p.Lys1816Thr) c.5800A>C (n.5800A>C) c.5726A>C (p.Lys1909Thr) c.5636A>C (p.Lys1879Thr) c.5687A>C (p.Lys1896Thr) n.6723A>C | |
18 | g.10705403T>A | CA401910345 | PIEZO2 | c.5668A>T (p.Lys1890Ter) c.676A>T (p.Lys226Ter) c.5932A>T (p.Lys1978Ter) c.5593A>T (p.Lys1865Ter) c.5446A>T (p.Lys1816Ter) c.5799A>T (n.5799A>T) c.5725A>T (p.Lys1909Ter) c.5635A>T (p.Lys1879Ter) c.5686A>T (p.Lys1896Ter) n.6722A>T | |
18 | g.10705403T>C | CA401910346 | PIEZO2 | c.5668A>G (p.Lys1890Glu) c.676A>G (p.Lys226Glu) c.5932A>G (p.Lys1978Glu) c.5593A>G (p.Lys1865Glu) c.5446A>G (p.Lys1816Glu) c.5799A>G (n.5799A>G) c.5725A>G (p.Lys1909Glu) c.5635A>G (p.Lys1879Glu) c.5686A>G (p.Lys1896Glu) n.6722A>G | gnomAD v4 |
18 | g.10705403T>G | CA401910347 | PIEZO2 | c.5668A>C (p.Lys1890Gln) c.676A>C (p.Lys226Gln) c.5932A>C (p.Lys1978Gln) c.5593A>C (p.Lys1865Gln) c.5446A>C (p.Lys1816Gln) c.5799A>C (n.5799A>C) c.5725A>C (p.Lys1909Gln) c.5635A>C (p.Lys1879Gln) c.5686A>C (p.Lys1896Gln) n.6722A>C | |
18 | g.10705404G>A | CA503243218 | PIEZO2 | c.5667C>T (p.Asp1889=) c.675C>T (p.Asp225=) c.5931C>T (p.Asp1977=) c.5592C>T (p.Asp1864=) c.5445C>T (p.Asp1815=) c.5798C>T (n.5798C>T) c.5724C>T (p.Asp1908=) c.5634C>T (p.Asp1878=) c.5685C>T (p.Asp1895=) n.6721C>T | dbSNP |
18 | g.10705404G>C | CA401910348 | PIEZO2 | c.5667C>G (p.Asp1889Glu) c.675C>G (p.Asp225Glu) c.5931C>G (p.Asp1977Glu) c.5592C>G (p.Asp1864Glu) c.5445C>G (p.Asp1815Glu) c.5798C>G (n.5798C>G) c.5724C>G (p.Asp1908Glu) c.5634C>G (p.Asp1878Glu) c.5685C>G (p.Asp1895Glu) n.6721C>G | |
18 | g.10705404G= | CA2284425251 | PIEZO2 | c.5667C= (p.Asp1889=) c.675C= (p.Asp225=) c.5931C= (p.Asp1977=) c.5592C= (p.Asp1864=) c.5445C= (p.Asp1815=) c.5798C= (n.5798C=) c.5724C= (p.Asp1908=) c.5634C= (p.Asp1878=) c.5685C= (p.Asp1895=) n.6721C= | |
18 | g.10705404G>T | CA401910349 | PIEZO2 | c.5667C>A (p.Asp1889Glu) c.675C>A (p.Asp225Glu) c.5931C>A (p.Asp1977Glu) c.5592C>A (p.Asp1864Glu) c.5445C>A (p.Asp1815Glu) c.5798C>A (n.5798C>A) c.5724C>A (p.Asp1908Glu) c.5634C>A (p.Asp1878Glu) c.5685C>A (p.Asp1895Glu) n.6721C>A | |
18 | g.10705405T>A | CA401910350 | PIEZO2 | c.5666A>T (p.Asp1889Val) c.674A>T (p.Asp225Val) c.5930A>T (p.Asp1977Val) c.5591A>T (p.Asp1864Val) c.5444A>T (p.Asp1815Val) c.5797A>T (n.5797A>T) c.5723A>T (p.Asp1908Val) c.5633A>T (p.Asp1878Val) c.5684A>T (p.Asp1895Val) n.6720A>T | |
18 | g.10705405T>C | CA401910351 | PIEZO2 | c.5666A>G (p.Asp1889Gly) c.674A>G (p.Asp225Gly) c.5930A>G (p.Asp1977Gly) c.5591A>G (p.Asp1864Gly) c.5444A>G (p.Asp1815Gly) c.5797A>G (n.5797A>G) c.5723A>G (p.Asp1908Gly) c.5633A>G (p.Asp1878Gly) c.5684A>G (p.Asp1895Gly) n.6720A>G | |
18 | g.10705405T>G | CA401910352 | PIEZO2 | c.5666A>C (p.Asp1889Ala) c.674A>C (p.Asp225Ala) c.5930A>C (p.Asp1977Ala) c.5591A>C (p.Asp1864Ala) c.5444A>C (p.Asp1815Ala) c.5797A>C (n.5797A>C) c.5723A>C (p.Asp1908Ala) c.5633A>C (p.Asp1878Ala) c.5684A>C (p.Asp1895Ala) n.6720A>C | |
18 | g.10705406C>A | CA401910353 | PIEZO2 | c.5665G>T (p.Asp1889Tyr) c.673G>T (p.Asp225Tyr) c.5929G>T (p.Asp1977Tyr) c.5590G>T (p.Asp1864Tyr) c.5443G>T (p.Asp1815Tyr) c.5796G>T (n.5796G>T) c.5722G>T (p.Asp1908Tyr) c.5632G>T (p.Asp1878Tyr) c.5683G>T (p.Asp1895Tyr) n.6719G>T | |
18 | g.10705406C= | CA2284425252 | PIEZO2 | c.5665G= (p.Asp1889=) c.673G= (p.Asp225=) c.5929G= (p.Asp1977=) c.5590G= (p.Asp1864=) c.5443G= (p.Asp1815=) c.5796G= (n.5796G=) c.5722G= (p.Asp1908=) c.5632G= (p.Asp1878=) c.5683G= (p.Asp1895=) n.6719G= | |
18 | g.10705406C>G | CA401910354 | PIEZO2 | c.5665G>C (p.Asp1889His) c.673G>C (p.Asp225His) c.5929G>C (p.Asp1977His) c.5590G>C (p.Asp1864His) c.5443G>C (p.Asp1815His) c.5796G>C (n.5796G>C) c.5722G>C (p.Asp1908His) c.5632G>C (p.Asp1878His) c.5683G>C (p.Asp1895His) n.6719G>C | dbSNP |
18 | g.10705406C>T | CA295991233 | PIEZO2 | c.5665G>A (p.Asp1889Asn) c.673G>A (p.Asp225Asn) c.5929G>A (p.Asp1977Asn) c.5590G>A (p.Asp1864Asn) c.5443G>A (p.Asp1815Asn) c.5796G>A (n.5796G>A) c.5722G>A (p.Asp1908Asn) c.5632G>A (p.Asp1878Asn) c.5683G>A (p.Asp1895Asn) n.6719G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10705407G>A | CA8892293 | PIEZO2 | c.5664C>T (p.Thr1888=) c.672C>T (p.Thr224=) c.5928C>T (p.Thr1976=) c.5589C>T (p.Thr1863=) c.5442C>T (p.Thr1814=) c.5795C>T (n.5795C>T) c.5721C>T (p.Thr1907=) c.5631C>T (p.Thr1877=) c.5682C>T (p.Thr1894=) n.6718C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10705407G>C | CA503243223 | PIEZO2 | c.5664C>G (p.Thr1888=) c.672C>G (p.Thr224=) c.5928C>G (p.Thr1976=) c.5589C>G (p.Thr1863=) c.5442C>G (p.Thr1814=) c.5795C>G (n.5795C>G) c.5721C>G (p.Thr1907=) c.5631C>G (p.Thr1877=) c.5682C>G (p.Thr1894=) n.6718C>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10705407G= | CA2284425253 | PIEZO2 | c.5664C= (p.Thr1888=) c.672C= (p.Thr224=) c.5928C= (p.Thr1976=) c.5589C= (p.Thr1863=) c.5442C= (p.Thr1814=) c.5795C= (n.5795C=) c.5721C= (p.Thr1907=) c.5631C= (p.Thr1877=) c.5682C= (p.Thr1894=) n.6718C= | |
18 | g.10705407G>T | CA503243225 | PIEZO2 | c.5664C>A (p.Thr1888=) c.672C>A (p.Thr224=) c.5928C>A (p.Thr1976=) c.5589C>A (p.Thr1863=) c.5442C>A (p.Thr1814=) c.5795C>A (n.5795C>A) c.5721C>A (p.Thr1907=) c.5631C>A (p.Thr1877=) c.5682C>A (p.Thr1894=) n.6718C>A | COSMIC |
18 | g.10705408G>A | CA401910357 | PIEZO2 | c.5663C>T (p.Thr1888Ile) c.671C>T (p.Thr224Ile) c.5927C>T (p.Thr1976Ile) c.5588C>T (p.Thr1863Ile) c.5441C>T (p.Thr1814Ile) c.5794C>T (n.5794C>T) c.5720C>T (p.Thr1907Ile) c.5630C>T (p.Thr1877Ile) c.5681C>T (p.Thr1894Ile) n.6717C>T | gnomAD v4 |
18 | g.10705408G>C | CA401910355 | PIEZO2 | c.5663C>G (p.Thr1888Ser) c.671C>G (p.Thr224Ser) c.5927C>G (p.Thr1976Ser) c.5588C>G (p.Thr1863Ser) c.5441C>G (p.Thr1814Ser) c.5794C>G (n.5794C>G) c.5720C>G (p.Thr1907Ser) c.5630C>G (p.Thr1877Ser) c.5681C>G (p.Thr1894Ser) n.6717C>G | |
18 | g.10705408G>T | CA401910356 | PIEZO2 | c.5663C>A (p.Thr1888Asn) c.671C>A (p.Thr224Asn) c.5927C>A (p.Thr1976Asn) c.5588C>A (p.Thr1863Asn) c.5441C>A (p.Thr1814Asn) c.5794C>A (n.5794C>A) c.5720C>A (p.Thr1907Asn) c.5630C>A (p.Thr1877Asn) c.5681C>A (p.Thr1894Asn) n.6717C>A | |
18 | g.10705409T>A | CA401910358 | PIEZO2 | c.5662A>T (p.Thr1888Ser) c.670A>T (p.Thr224Ser) c.5926A>T (p.Thr1976Ser) c.5587A>T (p.Thr1863Ser) c.5440A>T (p.Thr1814Ser) c.5793A>T (n.5793A>T) c.5719A>T (p.Thr1907Ser) c.5629A>T (p.Thr1877Ser) c.5680A>T (p.Thr1894Ser) n.6716A>T | |
18 | g.10705409T>C | CA401910359 | PIEZO2 | c.5662A>G (p.Thr1888Ala) c.670A>G (p.Thr224Ala) c.5926A>G (p.Thr1976Ala) c.5587A>G (p.Thr1863Ala) c.5440A>G (p.Thr1814Ala) c.5793A>G (n.5793A>G) c.5719A>G (p.Thr1907Ala) c.5629A>G (p.Thr1877Ala) c.5680A>G (p.Thr1894Ala) n.6716A>G | |
18 | g.10705409T>G | CA401910360 | PIEZO2 | c.5662A>C (p.Thr1888Pro) c.670A>C (p.Thr224Pro) c.5926A>C (p.Thr1976Pro) c.5587A>C (p.Thr1863Pro) c.5440A>C (p.Thr1814Pro) c.5793A>C (n.5793A>C) c.5719A>C (p.Thr1907Pro) c.5629A>C (p.Thr1877Pro) c.5680A>C (p.Thr1894Pro) n.6716A>C | |
18 | g.10705410G>A | CA295991236 | PIEZO2 | c.5661C>T (p.Arg1887=) c.669C>T (p.Arg223=) c.5925C>T (p.Arg1975=) c.5586C>T (p.Arg1862=) c.5439C>T (p.Arg1813=) c.5792C>T (n.5792C>T) c.5718C>T (p.Arg1906=) c.5628C>T (p.Arg1876=) c.5679C>T (p.Arg1893=) n.6715C>T | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10705410G>C | CA503243229 | PIEZO2 | c.5661C>G (p.Arg1887=) c.669C>G (p.Arg223=) c.5925C>G (p.Arg1975=) c.5586C>G (p.Arg1862=) c.5439C>G (p.Arg1813=) c.5792C>G (n.5792C>G) c.5718C>G (p.Arg1906=) c.5628C>G (p.Arg1876=) c.5679C>G (p.Arg1893=) n.6715C>G | |
18 | g.10705410G= | CA2284425254 | PIEZO2 | c.5661C= (p.Arg1887=) c.669C= (p.Arg223=) c.5925C= (p.Arg1975=) c.5586C= (p.Arg1862=) c.5439C= (p.Arg1813=) c.5792C= (n.5792C=) c.5718C= (p.Arg1906=) c.5628C= (p.Arg1876=) c.5679C= (p.Arg1893=) n.6715C= | |
18 | g.10705410G>T | CA503243230 | PIEZO2 | c.5661C>A (p.Arg1887=) c.669C>A (p.Arg223=) c.5925C>A (p.Arg1975=) c.5586C>A (p.Arg1862=) c.5439C>A (p.Arg1813=) c.5792C>A (n.5792C>A) c.5718C>A (p.Arg1906=) c.5628C>A (p.Arg1876=) c.5679C>A (p.Arg1893=) n.6715C>A | |
18 | g.10705411C>A | CA401910361 | PIEZO2 | c.5660G>T (p.Arg1887Leu) c.668G>T (p.Arg223Leu) c.5924G>T (p.Arg1975Leu) c.5585G>T (p.Arg1862Leu) c.5438G>T (p.Arg1813Leu) c.5791G>T (n.5791G>T) c.5717G>T (p.Arg1906Leu) c.5627G>T (p.Arg1876Leu) c.5678G>T (p.Arg1893Leu) n.6714G>T | gnomAD v4 |
18 | g.10705411C= | CA2284425255 | PIEZO2 | c.5660G= (p.Arg1887=) c.668G= (p.Arg223=) c.5924G= (p.Arg1975=) c.5585G= (p.Arg1862=) c.5438G= (p.Arg1813=) c.5791G= (n.5791G=) c.5717G= (p.Arg1906=) c.5627G= (p.Arg1876=) c.5678G= (p.Arg1893=) n.6714G= | |
18 | g.10705411C>G | CA401910362 | PIEZO2 | c.5660G>C (p.Arg1887Pro) c.668G>C (p.Arg223Pro) c.5924G>C (p.Arg1975Pro) c.5585G>C (p.Arg1862Pro) c.5438G>C (p.Arg1813Pro) c.5791G>C (n.5791G>C) c.5717G>C (p.Arg1906Pro) c.5627G>C (p.Arg1876Pro) c.5678G>C (p.Arg1893Pro) n.6714G>C | gnomAD v4 |
18 | g.10705411C>T | CA8892294 | PIEZO2 | c.5660G>A (p.Arg1887His) c.668G>A (p.Arg223His) c.5924G>A (p.Arg1975His) c.5585G>A (p.Arg1862His) c.5438G>A (p.Arg1813His) c.5791G>A (n.5791G>A) c.5717G>A (p.Arg1906His) c.5627G>A (p.Arg1876His) c.5678G>A (p.Arg1893His) n.6714G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |