Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13764772_13769751delinsTAA | CA916084225 | DNAH5 | c.9606-136_10101+1204delinsTTA c.9561-136_10056+1204delinsTTA n.318-136_610-1871delinsTTA c.9714-136_10209+1204delinsTTA c.8619-136_9114+1204delinsTTA c.4803-136_5298+1204delinsTTA c.4356-136_4851+1204delinsTTA c.3693-136_4188+1204delinsTTA c.8208-136_8703+1204delinsTTA | ClinVar |
5 | g.13768934A= | CA1528430301 | DNAH5 | c.9897+26T= (n.9897+26T=) c.9852+26T= (n.9852+26T=) n.609+26T= c.10005+26T= (n.10005+26T=) c.8910+26T= (n.8910+26T=) c.5094+26T= (n.5094+26T=) c.4647+26T= (n.4647+26T=) c.3984+26T= (n.3984+26T=) c.8499+26T= (n.8499+26T=) | |
5 | g.13768934A>T | CA113930616 | DNAH5 | c.9897+26T>A (n.9897+26T>A) c.9852+26T>A (n.9852+26T>A) n.609+26T>A c.10005+26T>A (n.10005+26T>A) c.8910+26T>A (n.8910+26T>A) c.5094+26T>A (n.5094+26T>A) c.4647+26T>A (n.4647+26T>A) c.3984+26T>A (n.3984+26T>A) c.8499+26T>A (n.8499+26T>A) | dbSNP gnomAD v4 |
5 | g.13768935C= | CA1528430302 | DNAH5 | c.9897+25G= (n.9897+25G=) c.9852+25G= (n.9852+25G=) n.609+25G= c.10005+25G= (n.10005+25G=) c.8910+25G= (n.8910+25G=) c.5094+25G= (n.5094+25G=) c.4647+25G= (n.4647+25G=) c.3984+25G= (n.3984+25G=) c.8499+25G= (n.8499+25G=) | |
5 | g.13768935C>T | CA113930623 | DNAH5 | c.9897+25G>A (n.9897+25G>A) c.9852+25G>A (n.9852+25G>A) n.609+25G>A c.10005+25G>A (n.10005+25G>A) c.8910+25G>A (n.8910+25G>A) c.5094+25G>A (n.5094+25G>A) c.4647+25G>A (n.4647+25G>A) c.3984+25G>A (n.3984+25G>A) c.8499+25G>A (n.8499+25G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13768937T>C | CA3202401 | DNAH5 | c.9897+23A>G (n.9897+23A>G) c.9852+23A>G (n.9852+23A>G) n.609+23A>G c.10005+23A>G (n.10005+23A>G) c.8910+23A>G (n.8910+23A>G) c.5094+23A>G (n.5094+23A>G) c.4647+23A>G (n.4647+23A>G) c.3984+23A>G (n.3984+23A>G) c.8499+23A>G (n.8499+23A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13768937T= | CA1528430303 | DNAH5 | c.9897+23A= (n.9897+23A=) c.9852+23A= (n.9852+23A=) n.609+23A= c.10005+23A= (n.10005+23A=) c.8910+23A= (n.8910+23A=) c.5094+23A= (n.5094+23A=) c.4647+23A= (n.4647+23A=) c.3984+23A= (n.3984+23A=) c.8499+23A= (n.8499+23A=) | |
5 | g.13768938_13768942delinsCTGTT | CA1528430304 | DNAH5 | c.9897+18_9897+22delinsAACAG (n.9897+18_9897+22delinsAACAG) c.9852+18_9852+22delinsAACAG (n.9852+18_9852+22delinsAACAG) n.609+18_609+22delinsAACAG c.10005+18_10005+22delinsAACAG (n.10005+18_10005+22delinsAACAG) c.8910+18_8910+22delinsAACAG (n.8910+18_8910+22delinsAACAG) c.5094+18_5094+22delinsAACAG (n.5094+18_5094+22delinsAACAG) c.4647+18_4647+22delinsAACAG (n.4647+18_4647+22delinsAACAG) c.3984+18_3984+22delinsAACAG (n.3984+18_3984+22delinsAACAG) c.8499+18_8499+22delinsAACAG (n.8499+18_8499+22delinsAACAG) | |
5 | g.13768939T>C | CA3202402 | DNAH5 | c.9897+21A>G (n.9897+21A>G) c.9852+21A>G (n.9852+21A>G) n.609+21A>G c.10005+21A>G (n.10005+21A>G) c.8910+21A>G (n.8910+21A>G) c.5094+21A>G (n.5094+21A>G) c.4647+21A>G (n.4647+21A>G) c.3984+21A>G (n.3984+21A>G) c.8499+21A>G (n.8499+21A>G) | dbSNP ExAC gnomAD v4 |
5 | g.13768939T= | CA1528430306 | DNAH5 | c.9897+21A= (n.9897+21A=) c.9852+21A= (n.9852+21A=) n.609+21A= c.10005+21A= (n.10005+21A=) c.8910+21A= (n.8910+21A=) c.5094+21A= (n.5094+21A=) c.4647+21A= (n.4647+21A=) c.3984+21A= (n.3984+21A=) c.8499+21A= (n.8499+21A=) | |
5 | g.13768939_13768942del | CA1528430305 | DNAH5 | c.9897+18_9897+21del (n.9897+18_9897+21del) c.9852+18_9852+21del (n.9852+18_9852+21del) n.609+18_609+21del c.10005+18_10005+21del (n.10005+18_10005+21del) c.8910+18_8910+21del (n.8910+18_8910+21del) c.5094+18_5094+21del (n.5094+18_5094+21del) c.4647+18_4647+21del (n.4647+18_4647+21del) c.3984+18_3984+21del (n.3984+18_3984+21del) c.8499+18_8499+21del (n.8499+18_8499+21del) | dbSNP gnomAD v4 |
5 | g.13768940G>A | CA1528430308 | DNAH5 | c.9897+20C>T (n.9897+20C>T) c.9852+20C>T (n.9852+20C>T) n.609+20C>T c.10005+20C>T (n.10005+20C>T) c.8910+20C>T (n.8910+20C>T) c.5094+20C>T (n.5094+20C>T) c.4647+20C>T (n.4647+20C>T) c.3984+20C>T (n.3984+20C>T) c.8499+20C>T (n.8499+20C>T) | dbSNP |
5 | g.13768940G= | CA1528430307 | DNAH5 | c.9897+20C= (n.9897+20C=) c.9852+20C= (n.9852+20C=) n.609+20C= c.10005+20C= (n.10005+20C=) c.8910+20C= (n.8910+20C=) c.5094+20C= (n.5094+20C=) c.4647+20C= (n.4647+20C=) c.3984+20C= (n.3984+20C=) c.8499+20C= (n.8499+20C=) | |
5 | g.13768943A>G | CA2578269963 | DNAH5 | c.9897+17T>C (n.9897+17T>C) c.9852+17T>C (n.9852+17T>C) n.609+17T>C c.10005+17T>C (n.10005+17T>C) c.8910+17T>C (n.8910+17T>C) c.5094+17T>C (n.5094+17T>C) c.4647+17T>C (n.4647+17T>C) c.3984+17T>C (n.3984+17T>C) c.8499+17T>C (n.8499+17T>C) | gnomAD v4 |
5 | g.13768944T>C | CA2673269710 | DNAH5 | c.9897+16A>G (n.9897+16A>G) c.9852+16A>G (n.9852+16A>G) n.609+16A>G c.10005+16A>G (n.10005+16A>G) c.8910+16A>G (n.8910+16A>G) c.5094+16A>G (n.5094+16A>G) c.4647+16A>G (n.4647+16A>G) c.3984+16A>G (n.3984+16A>G) c.8499+16A>G (n.8499+16A>G) | gnomAD v4 |
5 | g.13768945A= | CA1528430309 | DNAH5 | c.9897+15T= (n.9897+15T=) c.9852+15T= (n.9852+15T=) n.609+15T= c.10005+15T= (n.10005+15T=) c.8910+15T= (n.8910+15T=) c.5094+15T= (n.5094+15T=) c.4647+15T= (n.4647+15T=) c.3984+15T= (n.3984+15T=) c.8499+15T= (n.8499+15T=) | |
5 | g.13768946T>C | CA2673269711 | DNAH5 | c.9897+14A>G (n.9897+14A>G) c.9852+14A>G (n.9852+14A>G) n.609+14A>G c.10005+14A>G (n.10005+14A>G) c.8910+14A>G (n.8910+14A>G) c.5094+14A>G (n.5094+14A>G) c.4647+14A>G (n.4647+14A>G) c.3984+14A>G (n.3984+14A>G) c.8499+14A>G (n.8499+14A>G) | gnomAD v4 |
5 | g.13768946dup | CA1528430310 | DNAH5 | c.9897+14dup (n.9897+14dup) c.9852+14dup (n.9852+14dup) n.609+14dup c.10005+14dup (n.10005+14dup) c.8910+14dup (n.8910+14dup) c.5094+14dup (n.5094+14dup) c.4647+14dup (n.4647+14dup) c.3984+14dup (n.3984+14dup) c.8499+14dup (n.8499+14dup) | dbSNP |
5 | g.13768947C= | CA1528430311 | DNAH5 | c.9897+13G= (n.9897+13G=) c.9852+13G= (n.9852+13G=) n.609+13G= c.10005+13G= (n.10005+13G=) c.8910+13G= (n.8910+13G=) c.5094+13G= (n.5094+13G=) c.4647+13G= (n.4647+13G=) c.3984+13G= (n.3984+13G=) c.8499+13G= (n.8499+13G=) | |
5 | g.13768947C>G | CA804449283 | DNAH5 | c.9897+13G>C (n.9897+13G>C) c.9852+13G>C (n.9852+13G>C) n.609+13G>C c.10005+13G>C (n.10005+13G>C) c.8910+13G>C (n.8910+13G>C) c.5094+13G>C (n.5094+13G>C) c.4647+13G>C (n.4647+13G>C) c.3984+13G>C (n.3984+13G>C) c.8499+13G>C (n.8499+13G>C) | ClinVar dbSNP gnomAD v4 |
5 | g.13768947C>T | CA2673269712 | DNAH5 | c.9897+13G>A (n.9897+13G>A) c.9852+13G>A (n.9852+13G>A) n.609+13G>A c.10005+13G>A (n.10005+13G>A) c.8910+13G>A (n.8910+13G>A) c.5094+13G>A (n.5094+13G>A) c.4647+13G>A (n.4647+13G>A) c.3984+13G>A (n.3984+13G>A) c.8499+13G>A (n.8499+13G>A) | ClinVar gnomAD v4 |
5 | g.13768948A= | CA1528430312 | DNAH5 | c.9897+12T= (n.9897+12T=) c.9852+12T= (n.9852+12T=) n.609+12T= c.10005+12T= (n.10005+12T=) c.8910+12T= (n.8910+12T=) c.5094+12T= (n.5094+12T=) c.4647+12T= (n.4647+12T=) c.3984+12T= (n.3984+12T=) c.8499+12T= (n.8499+12T=) | |
5 | g.13768948A>C | CA804449287 | DNAH5 | c.9897+12T>G (n.9897+12T>G) c.9852+12T>G (n.9852+12T>G) n.609+12T>G c.10005+12T>G (n.10005+12T>G) c.8910+12T>G (n.8910+12T>G) c.5094+12T>G (n.5094+12T>G) c.4647+12T>G (n.4647+12T>G) c.3984+12T>G (n.3984+12T>G) c.8499+12T>G (n.8499+12T>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13768948A>T | CA557876564 | DNAH5 | c.9897+12T>A (n.9897+12T>A) c.9852+12T>A (n.9852+12T>A) n.609+12T>A c.10005+12T>A (n.10005+12T>A) c.8910+12T>A (n.8910+12T>A) c.5094+12T>A (n.5094+12T>A) c.4647+12T>A (n.4647+12T>A) c.3984+12T>A (n.3984+12T>A) c.8499+12T>A (n.8499+12T>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13768949C>A | CA2673269713 | DNAH5 | c.9897+11G>T (n.9897+11G>T) c.9852+11G>T (n.9852+11G>T) n.609+11G>T c.10005+11G>T (n.10005+11G>T) c.8910+11G>T (n.8910+11G>T) c.5094+11G>T (n.5094+11G>T) c.4647+11G>T (n.4647+11G>T) c.3984+11G>T (n.3984+11G>T) c.8499+11G>T (n.8499+11G>T) | gnomAD v4 |
5 | g.13768949C>T | CA2673269714 | DNAH5 | c.9897+11G>A (n.9897+11G>A) c.9852+11G>A (n.9852+11G>A) n.609+11G>A c.10005+11G>A (n.10005+11G>A) c.8910+11G>A (n.8910+11G>A) c.5094+11G>A (n.5094+11G>A) c.4647+11G>A (n.4647+11G>A) c.3984+11G>A (n.3984+11G>A) c.8499+11G>A (n.8499+11G>A) | gnomAD v4 |
5 | g.13768949_13768951delinsCAT | CA1528430313 | DNAH5 | c.9897+9_9897+11delinsATG (n.9897+9_9897+11delinsATG) c.9852+9_9852+11delinsATG (n.9852+9_9852+11delinsATG) n.609+9_609+11delinsATG c.10005+9_10005+11delinsATG (n.10005+9_10005+11delinsATG) c.8910+9_8910+11delinsATG (n.8910+9_8910+11delinsATG) c.5094+9_5094+11delinsATG (n.5094+9_5094+11delinsATG) c.4647+9_4647+11delinsATG (n.4647+9_4647+11delinsATG) c.3984+9_3984+11delinsATG (n.3984+9_3984+11delinsATG) c.8499+9_8499+11delinsATG (n.8499+9_8499+11delinsATG) | |
5 | g.13768950A>G | CA2673269715 | DNAH5 | c.9897+10T>C (n.9897+10T>C) c.9852+10T>C (n.9852+10T>C) n.609+10T>C c.10005+10T>C (n.10005+10T>C) c.8910+10T>C (n.8910+10T>C) c.5094+10T>C (n.5094+10T>C) c.4647+10T>C (n.4647+10T>C) c.3984+10T>C (n.3984+10T>C) c.8499+10T>C (n.8499+10T>C) | dbSNP gnomAD v4 |
5 | g.13768951_13768952del | CA3202403 | DNAH5 | c.9897+9_9897+10del (n.9897+9_9897+10del) c.9852+9_9852+10del (n.9852+9_9852+10del) n.609+9_609+10del c.10005+9_10005+10del (n.10005+9_10005+10del) c.8910+9_8910+10del (n.8910+9_8910+10del) c.5094+9_5094+10del (n.5094+9_5094+10del) c.4647+9_4647+10del (n.4647+9_4647+10del) c.3984+9_3984+10del (n.3984+9_3984+10del) c.8499+9_8499+10del (n.8499+9_8499+10del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13768951T>C | CA113930643 | DNAH5 | c.9897+9A>G (n.9897+9A>G) c.9852+9A>G (n.9852+9A>G) n.609+9A>G c.10005+9A>G (n.10005+9A>G) c.8910+9A>G (n.8910+9A>G) c.5094+9A>G (n.5094+9A>G) c.4647+9A>G (n.4647+9A>G) c.3984+9A>G (n.3984+9A>G) c.8499+9A>G (n.8499+9A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13768951T>G | CA1528430315 | DNAH5 | c.9897+9A>C (n.9897+9A>C) c.9852+9A>C (n.9852+9A>C) n.609+9A>C c.10005+9A>C (n.10005+9A>C) c.8910+9A>C (n.8910+9A>C) c.5094+9A>C (n.5094+9A>C) c.4647+9A>C (n.4647+9A>C) c.3984+9A>C (n.3984+9A>C) c.8499+9A>C (n.8499+9A>C) | ClinVar dbSNP gnomAD v4 |
5 | g.13768951T= | CA1528430314 | DNAH5 | c.9897+9A= (n.9897+9A=) c.9852+9A= (n.9852+9A=) n.609+9A= c.10005+9A= (n.10005+9A=) c.8910+9A= (n.8910+9A=) c.5094+9A= (n.5094+9A=) c.4647+9A= (n.4647+9A=) c.3984+9A= (n.3984+9A=) c.8499+9A= (n.8499+9A=) | |
5 | g.13768952A>C | CA2697547056 | DNAH5 | c.9897+8T>G (n.9897+8T>G) c.9852+8T>G (n.9852+8T>G) n.609+8T>G c.10005+8T>G (n.10005+8T>G) c.8910+8T>G (n.8910+8T>G) c.5094+8T>G (n.5094+8T>G) c.4647+8T>G (n.4647+8T>G) c.3984+8T>G (n.3984+8T>G) c.8499+8T>G (n.8499+8T>G) | ClinVar |
5 | g.13768953G>T | CA2573138450 | DNAH5 | c.9897+7C>A (n.9897+7C>A) c.9852+7C>A (n.9852+7C>A) n.609+7C>A c.10005+7C>A (n.10005+7C>A) c.8910+7C>A (n.8910+7C>A) c.5094+7C>A (n.5094+7C>A) c.4647+7C>A (n.4647+7C>A) c.3984+7C>A (n.3984+7C>A) c.8499+7C>A (n.8499+7C>A) | ClinVar dbSNP gnomAD v4 |
5 | g.13768955T>A | CA3202404 | DNAH5 | c.9897+5A>T (n.9897+5A>T) c.9852+5A>T (n.9852+5A>T) n.609+5A>T c.10005+5A>T (n.10005+5A>T) c.8910+5A>T (n.8910+5A>T) c.5094+5A>T (n.5094+5A>T) c.4647+5A>T (n.4647+5A>T) c.3984+5A>T (n.3984+5A>T) c.8499+5A>T (n.8499+5A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13768955T>C | CA2673269716 | DNAH5 | c.9897+5A>G (n.9897+5A>G) c.9852+5A>G (n.9852+5A>G) n.609+5A>G c.10005+5A>G (n.10005+5A>G) c.8910+5A>G (n.8910+5A>G) c.5094+5A>G (n.5094+5A>G) c.4647+5A>G (n.4647+5A>G) c.3984+5A>G (n.3984+5A>G) c.8499+5A>G (n.8499+5A>G) | gnomAD v4 |
5 | g.13768955T>G | CA557876565 | DNAH5 | c.9897+5A>C (n.9897+5A>C) c.9852+5A>C (n.9852+5A>C) n.609+5A>C c.10005+5A>C (n.10005+5A>C) c.8910+5A>C (n.8910+5A>C) c.5094+5A>C (n.5094+5A>C) c.4647+5A>C (n.4647+5A>C) c.3984+5A>C (n.3984+5A>C) c.8499+5A>C (n.8499+5A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13768955T= | CA1528430316 | DNAH5 | c.9897+5A= (n.9897+5A=) c.9852+5A= (n.9852+5A=) n.609+5A= c.10005+5A= (n.10005+5A=) c.8910+5A= (n.8910+5A=) c.5094+5A= (n.5094+5A=) c.4647+5A= (n.4647+5A=) c.3984+5A= (n.3984+5A=) c.8499+5A= (n.8499+5A=) | |
5 | g.13768956G>A | CA557876566 | DNAH5 | c.9897+4C>T (n.9897+4C>T) c.9852+4C>T (n.9852+4C>T) n.609+4C>T c.10005+4C>T (n.10005+4C>T) c.8910+4C>T (n.8910+4C>T) c.5094+4C>T (n.5094+4C>T) c.4647+4C>T (n.4647+4C>T) c.3984+4C>T (n.3984+4C>T) c.8499+4C>T (n.8499+4C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13768956G= | CA1528430317 | DNAH5 | c.9897+4C= (n.9897+4C=) c.9852+4C= (n.9852+4C=) n.609+4C= c.10005+4C= (n.10005+4C=) c.8910+4C= (n.8910+4C=) c.5094+4C= (n.5094+4C=) c.4647+4C= (n.4647+4C=) c.3984+4C= (n.3984+4C=) c.8499+4C= (n.8499+4C=) | |
5 | g.13768957C>T | CA2673269717 | DNAH5 | c.9897+3G>A (n.9897+3G>A) c.9852+3G>A (n.9852+3G>A) n.609+3G>A c.10005+3G>A (n.10005+3G>A) c.8910+3G>A (n.8910+3G>A) c.5094+3G>A (n.5094+3G>A) c.4647+3G>A (n.4647+3G>A) c.3984+3G>A (n.3984+3G>A) c.8499+3G>A (n.8499+3G>A) | gnomAD v4 |
5 | g.13768958A>C | CA359201193 | DNAH5 | c.9897+2T>G (n.9897+2T>G) c.9852+2T>G (n.9852+2T>G) n.609+2T>G c.10005+2T>G (n.10005+2T>G) c.8910+2T>G (n.8910+2T>G) c.5094+2T>G (n.5094+2T>G) c.4647+2T>G (n.4647+2T>G) c.3984+2T>G (n.3984+2T>G) c.8499+2T>G (n.8499+2T>G) | |
5 | g.13768958A>G | CA359201199 | DNAH5 | c.9897+2T>C (n.9897+2T>C) c.9852+2T>C (n.9852+2T>C) n.609+2T>C c.10005+2T>C (n.10005+2T>C) c.8910+2T>C (n.8910+2T>C) c.5094+2T>C (n.5094+2T>C) c.4647+2T>C (n.4647+2T>C) c.3984+2T>C (n.3984+2T>C) c.8499+2T>C (n.8499+2T>C) | |
5 | g.13768958A>T | CA359201202 | DNAH5 | c.9897+2T>A (n.9897+2T>A) c.9852+2T>A (n.9852+2T>A) n.609+2T>A c.10005+2T>A (n.10005+2T>A) c.8910+2T>A (n.8910+2T>A) c.5094+2T>A (n.5094+2T>A) c.4647+2T>A (n.4647+2T>A) c.3984+2T>A (n.3984+2T>A) c.8499+2T>A (n.8499+2T>A) | |
5 | g.13768958_13768959delinsAC | CA1528430318 | DNAH5 | c.9897+1_9897+2delinsGT (n.9897+1_9897+2delinsGT) c.9852+1_9852+2delinsGT (n.9852+1_9852+2delinsGT) n.609+1_609+2delinsGT c.10005+1_10005+2delinsGT (n.10005+1_10005+2delinsGT) c.8910+1_8910+2delinsGT (n.8910+1_8910+2delinsGT) c.5094+1_5094+2delinsGT (n.5094+1_5094+2delinsGT) c.4647+1_4647+2delinsGT (n.4647+1_4647+2delinsGT) c.3984+1_3984+2delinsGT (n.3984+1_3984+2delinsGT) c.8499+1_8499+2delinsGT (n.8499+1_8499+2delinsGT) | |
5 | g.13768959C>A | CA359201205 | DNAH5 | c.9897+1G>T (n.9897+1G>T) c.9852+1G>T (n.9852+1G>T) n.609+1G>T c.10005+1G>T (n.10005+1G>T) c.8910+1G>T (n.8910+1G>T) c.5094+1G>T (n.5094+1G>T) c.4647+1G>T (n.4647+1G>T) c.3984+1G>T (n.3984+1G>T) c.8499+1G>T (n.8499+1G>T) | ClinVar gnomAD v4 |
5 | g.13768959C= | CA1528430319 | DNAH5 | c.9897+1G= (n.9897+1G=) c.9852+1G= (n.9852+1G=) n.609+1G= c.10005+1G= (n.10005+1G=) c.8910+1G= (n.8910+1G=) c.5094+1G= (n.5094+1G=) c.4647+1G= (n.4647+1G=) c.3984+1G= (n.3984+1G=) c.8499+1G= (n.8499+1G=) | |
5 | g.13768959C>G | CA113930688 | DNAH5 | c.9897+1G>C (n.9897+1G>C) c.9852+1G>C (n.9852+1G>C) n.609+1G>C c.10005+1G>C (n.10005+1G>C) c.8910+1G>C (n.8910+1G>C) c.5094+1G>C (n.5094+1G>C) c.4647+1G>C (n.4647+1G>C) c.3984+1G>C (n.3984+1G>C) c.8499+1G>C (n.8499+1G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13768959C>T | CA359201211 | DNAH5 | c.9897+1G>A (n.9897+1G>A) c.9852+1G>A (n.9852+1G>A) n.609+1G>A c.10005+1G>A (n.10005+1G>A) c.8910+1G>A (n.8910+1G>A) c.5094+1G>A (n.5094+1G>A) c.4647+1G>A (n.4647+1G>A) c.3984+1G>A (n.3984+1G>A) c.8499+1G>A (n.8499+1G>A) | ClinVar dbSNP |
5 | g.13768960del | CA557876567 | DNAH5 | c.9897+1del c.9852+1del n.609+1del c.10005+1del c.8910+1del c.5094+1del c.4647+1del c.3984+1del c.8499+1del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13768960C>A | CA359201213 | DNAH5 | c.9897G>T (p.Gln3299His) c.9852G>T (p.Gln3284His) n.609G>T c.10005G>T (p.Gln3335His) c.8910G>T (p.Gln2970His) c.5094G>T (p.Gln1698His) c.4647G>T (p.Gln1549His) c.3984G>T (p.Gln1328His) c.8499G>T (p.Gln2833His) | |
5 | g.13768960C= | CA1528430320 | DNAH5 | c.9897G= (p.Gln3299=) c.9852G= (p.Gln3284=) n.609G= c.10005G= (p.Gln3335=) c.8910G= (p.Gln2970=) c.5094G= (p.Gln1698=) c.4647G= (p.Gln1549=) c.3984G= (p.Gln1328=) c.8499G= (p.Gln2833=) | |
5 | g.13768960C>G | CA3202405 | DNAH5 | c.9897G>C (p.Gln3299His) c.9852G>C (p.Gln3284His) n.609G>C c.10005G>C (p.Gln3335His) c.8910G>C (p.Gln2970His) c.5094G>C (p.Gln1698His) c.4647G>C (p.Gln1549His) c.3984G>C (p.Gln1328His) c.8499G>C (p.Gln2833His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13768960C>T | CA443253368 | DNAH5 | c.9897G>A (p.Gln3299=) c.9852G>A (p.Gln3284=) n.609G>A c.10005G>A (p.Gln3335=) c.8910G>A (p.Gln2970=) c.5094G>A (p.Gln1698=) c.4647G>A (p.Gln1549=) c.3984G>A (p.Gln1328=) c.8499G>A (p.Gln2833=) | gnomAD v4 |
5 | g.13768961T>A | CA359201214 | DNAH5 | c.9896A>T (p.Gln3299Leu) c.9851A>T (p.Gln3284Leu) n.608A>T c.10004A>T (p.Gln3335Leu) c.8909A>T (p.Gln2970Leu) c.5093A>T (p.Gln1698Leu) c.4646A>T (p.Gln1549Leu) c.3983A>T (p.Gln1328Leu) c.8498A>T (p.Gln2833Leu) | |
5 | g.13768961T>C | CA233907 | DNAH5 | c.9896A>G (p.Gln3299Arg) c.9851A>G (p.Gln3284Arg) n.608A>G c.10004A>G (p.Gln3335Arg) c.8909A>G (p.Gln2970Arg) c.5093A>G (p.Gln1698Arg) c.4646A>G (p.Gln1549Arg) c.3983A>G (p.Gln1328Arg) c.8498A>G (p.Gln2833Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13768961T>G | CA359201219 | DNAH5 | c.9896A>C (p.Gln3299Pro) c.9851A>C (p.Gln3284Pro) n.608A>C c.10004A>C (p.Gln3335Pro) c.8909A>C (p.Gln2970Pro) c.5093A>C (p.Gln1698Pro) c.4646A>C (p.Gln1549Pro) c.3983A>C (p.Gln1328Pro) c.8498A>C (p.Gln2833Pro) | |
5 | g.13768961T= | CA1528430321 | DNAH5 | c.9896A= (p.Gln3299=) c.9851A= (p.Gln3284=) n.608A= c.10004A= (p.Gln3335=) c.8909A= (p.Gln2970=) c.5093A= (p.Gln1698=) c.4646A= (p.Gln1549=) c.3983A= (p.Gln1328=) c.8498A= (p.Gln2833=) | |
5 | g.13768962G>A | CA359201224 | DNAH5 | c.9895C>T (p.Gln3299Ter) c.9850C>T (p.Gln3284Ter) n.607C>T c.10003C>T (p.Gln3335Ter) c.8908C>T (p.Gln2970Ter) c.5092C>T (p.Gln1698Ter) c.4645C>T (p.Gln1549Ter) c.3982C>T (p.Gln1328Ter) c.8497C>T (p.Gln2833Ter) | |
5 | g.13768962G>C | CA113930702 | DNAH5 | c.9895C>G (p.Gln3299Glu) c.9850C>G (p.Gln3284Glu) n.607C>G c.10003C>G (p.Gln3335Glu) c.8908C>G (p.Gln2970Glu) c.5092C>G (p.Gln1698Glu) c.4645C>G (p.Gln1549Glu) c.3982C>G (p.Gln1328Glu) c.8497C>G (p.Gln2833Glu) | dbSNP gnomAD v4 |
5 | g.13768962G= | CA1528430322 | DNAH5 | c.9895C= (p.Gln3299=) c.9850C= (p.Gln3284=) n.607C= c.10003C= (p.Gln3335=) c.8908C= (p.Gln2970=) c.5092C= (p.Gln1698=) c.4645C= (p.Gln1549=) c.3982C= (p.Gln1328=) c.8497C= (p.Gln2833=) | |
5 | g.13768962G>T | CA359201228 | DNAH5 | c.9895C>A (p.Gln3299Lys) c.9850C>A (p.Gln3284Lys) n.607C>A c.10003C>A (p.Gln3335Lys) c.8908C>A (p.Gln2970Lys) c.5092C>A (p.Gln1698Lys) c.4645C>A (p.Gln1549Lys) c.3982C>A (p.Gln1328Lys) c.8497C>A (p.Gln2833Lys) | |
5 | g.13768963C>A | CA3202406 | DNAH5 | c.9894G>T (p.Leu3298Phe) c.9849G>T (p.Leu3283Phe) n.606G>T c.10002G>T (p.Leu3334Phe) c.8907G>T (p.Leu2969Phe) c.5091G>T (p.Leu1697Phe) c.4644G>T (p.Leu1548Phe) c.3981G>T (p.Leu1327Phe) c.8496G>T (p.Leu2832Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13768963C= | CA1528430323 | DNAH5 | c.9894G= (p.Leu3298=) c.9849G= (p.Leu3283=) n.606G= c.10002G= (p.Leu3334=) c.8907G= (p.Leu2969=) c.5091G= (p.Leu1697=) c.4644G= (p.Leu1548=) c.3981G= (p.Leu1327=) c.8496G= (p.Leu2832=) | |
5 | g.13768963C>G | CA359201229 | DNAH5 | c.9894G>C (p.Leu3298Phe) c.9849G>C (p.Leu3283Phe) n.606G>C c.10002G>C (p.Leu3334Phe) c.8907G>C (p.Leu2969Phe) c.5091G>C (p.Leu1697Phe) c.4644G>C (p.Leu1548Phe) c.3981G>C (p.Leu1327Phe) c.8496G>C (p.Leu2832Phe) | |
5 | g.13768963C>T | CA443253405 | DNAH5 | c.9894G>A (p.Leu3298=) c.9849G>A (p.Leu3283=) n.606G>A c.10002G>A (p.Leu3334=) c.8907G>A (p.Leu2969=) c.5091G>A (p.Leu1697=) c.4644G>A (p.Leu1548=) c.3981G>A (p.Leu1327=) c.8496G>A (p.Leu2832=) | |
5 | g.13768964A>C | CA359201230 | DNAH5 | c.9893T>G (p.Leu3298Trp) c.9848T>G (p.Leu3283Trp) n.605T>G c.10001T>G (p.Leu3334Trp) c.8906T>G (p.Leu2969Trp) c.5090T>G (p.Leu1697Trp) c.4643T>G (p.Leu1548Trp) c.3980T>G (p.Leu1327Trp) c.8495T>G (p.Leu2832Trp) | gnomAD v4 |
5 | g.13768964A>G | CA359201233 | DNAH5 | c.9893T>C (p.Leu3298Ser) c.9848T>C (p.Leu3283Ser) n.605T>C c.10001T>C (p.Leu3334Ser) c.8906T>C (p.Leu2969Ser) c.5090T>C (p.Leu1697Ser) c.4643T>C (p.Leu1548Ser) c.3980T>C (p.Leu1327Ser) c.8495T>C (p.Leu2832Ser) | gnomAD v4 |
5 | g.13768964A>T | CA359201235 | DNAH5 | c.9893T>A (p.Leu3298Ter) c.9848T>A (p.Leu3283Ter) n.605T>A c.10001T>A (p.Leu3334Ter) c.8906T>A (p.Leu2969Ter) c.5090T>A (p.Leu1697Ter) c.4643T>A (p.Leu1548Ter) c.3980T>A (p.Leu1327Ter) c.8495T>A (p.Leu2832Ter) | |
5 | g.13768965A= | CA1528430324 | DNAH5 | c.9892T= (p.Leu3298=) c.9847T= (p.Leu3283=) n.604T= c.10000T= (p.Leu3334=) c.8905T= (p.Leu2969=) c.5089T= (p.Leu1697=) c.4642T= (p.Leu1548=) c.3979T= (p.Leu1327=) c.8494T= (p.Leu2832=) | |
5 | g.13768965A>C | CA359201236 | DNAH5 | c.9892T>G (p.Leu3298Val) c.9847T>G (p.Leu3283Val) n.604T>G c.10000T>G (p.Leu3334Val) c.8905T>G (p.Leu2969Val) c.5089T>G (p.Leu1697Val) c.4642T>G (p.Leu1548Val) c.3979T>G (p.Leu1327Val) c.8494T>G (p.Leu2832Val) | |
5 | g.13768965A>G | CA3202407 | DNAH5 | c.9892T>C (p.Leu3298=) c.9847T>C (p.Leu3283=) n.604T>C c.10000T>C (p.Leu3334=) c.8905T>C (p.Leu2969=) c.5089T>C (p.Leu1697=) c.4642T>C (p.Leu1548=) c.3979T>C (p.Leu1327=) c.8494T>C (p.Leu2832=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13768965A>T | CA359201237 | DNAH5 | c.9892T>A (p.Leu3298Met) c.9847T>A (p.Leu3283Met) n.604T>A c.10000T>A (p.Leu3334Met) c.8905T>A (p.Leu2969Met) c.5089T>A (p.Leu1697Met) c.4642T>A (p.Leu1548Met) c.3979T>A (p.Leu1327Met) c.8494T>A (p.Leu2832Met) | |
5 | g.13768966T>A | CA443253432 | DNAH5 | c.9891A>T (p.Ala3297=) c.9846A>T (p.Ala3282=) n.603A>T c.9999A>T (p.Ala3333=) c.8904A>T (p.Ala2968=) c.5088A>T (p.Ala1696=) c.4641A>T (p.Ala1547=) c.3978A>T (p.Ala1326=) c.8493A>T (p.Ala2831=) | |
5 | g.13768966T>C | CA336950 | DNAH5 | c.9891A>G (p.Ala3297=) c.9846A>G (p.Ala3282=) n.603A>G c.9999A>G (p.Ala3333=) c.8904A>G (p.Ala2968=) c.5088A>G (p.Ala1696=) c.4641A>G (p.Ala1547=) c.3978A>G (p.Ala1326=) c.8493A>G (p.Ala2831=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13768966T>G | CA443253427 | DNAH5 | c.9891A>C (p.Ala3297=) c.9846A>C (p.Ala3282=) n.603A>C c.9999A>C (p.Ala3333=) c.8904A>C (p.Ala2968=) c.5088A>C (p.Ala1696=) c.4641A>C (p.Ala1547=) c.3978A>C (p.Ala1326=) c.8493A>C (p.Ala2831=) | |
5 | g.13768966T= | CA1528430325 | DNAH5 | c.9891A= (p.Ala3297=) c.9846A= (p.Ala3282=) n.603A= c.9999A= (p.Ala3333=) c.8904A= (p.Ala2968=) c.5088A= (p.Ala1696=) c.4641A= (p.Ala1547=) c.3978A= (p.Ala1326=) c.8493A= (p.Ala2831=) | |
5 | g.13768967G>A | CA359201241 | DNAH5 | c.9890C>T (p.Ala3297Val) c.9845C>T (p.Ala3282Val) n.602C>T c.9998C>T (p.Ala3333Val) c.8903C>T (p.Ala2968Val) c.5087C>T (p.Ala1696Val) c.4640C>T (p.Ala1547Val) c.3977C>T (p.Ala1326Val) c.8492C>T (p.Ala2831Val) | ClinVar gnomAD v4 |
5 | g.13768967G>C | CA359201242 | DNAH5 | c.9890C>G (p.Ala3297Gly) c.9845C>G (p.Ala3282Gly) n.602C>G c.9998C>G (p.Ala3333Gly) c.8903C>G (p.Ala2968Gly) c.5087C>G (p.Ala1696Gly) c.4640C>G (p.Ala1547Gly) c.3977C>G (p.Ala1326Gly) c.8492C>G (p.Ala2831Gly) | |
5 | g.13768967G>T | CA359201243 | DNAH5 | c.9890C>A (p.Ala3297Glu) c.9845C>A (p.Ala3282Glu) n.602C>A c.9998C>A (p.Ala3333Glu) c.8903C>A (p.Ala2968Glu) c.5087C>A (p.Ala1696Glu) c.4640C>A (p.Ala1547Glu) c.3977C>A (p.Ala1326Glu) c.8492C>A (p.Ala2831Glu) | |
5 | g.13768968C>A | CA359201244 | DNAH5 | c.9889G>T (p.Ala3297Ser) c.9844G>T (p.Ala3282Ser) n.601G>T c.9997G>T (p.Ala3333Ser) c.8902G>T (p.Ala2968Ser) c.5086G>T (p.Ala1696Ser) c.4639G>T (p.Ala1547Ser) c.3976G>T (p.Ala1326Ser) c.8491G>T (p.Ala2831Ser) | |
5 | g.13768968C= | CA1528430326 | DNAH5 | c.9889G= (p.Ala3297=) c.9844G= (p.Ala3282=) n.601G= c.9997G= (p.Ala3333=) c.8902G= (p.Ala2968=) c.5086G= (p.Ala1696=) c.4639G= (p.Ala1547=) c.3976G= (p.Ala1326=) c.8491G= (p.Ala2831=) | |
5 | g.13768968C>G | CA359201245 | DNAH5 | c.9889G>C (p.Ala3297Pro) c.9844G>C (p.Ala3282Pro) n.601G>C c.9997G>C (p.Ala3333Pro) c.8902G>C (p.Ala2968Pro) c.5086G>C (p.Ala1696Pro) c.4639G>C (p.Ala1547Pro) c.3976G>C (p.Ala1326Pro) c.8491G>C (p.Ala2831Pro) | |
5 | g.13768968C>T | CA359201248 | DNAH5 | c.9889G>A (p.Ala3297Thr) c.9844G>A (p.Ala3282Thr) n.601G>A c.9997G>A (p.Ala3333Thr) c.8902G>A (p.Ala2968Thr) c.5086G>A (p.Ala1696Thr) c.4639G>A (p.Ala1547Thr) c.3976G>A (p.Ala1326Thr) c.8491G>A (p.Ala2831Thr) | dbSNP |
5 | g.13768969A= | CA1528430327 | DNAH5 | c.9888T= (p.Ala3296=) c.9843T= (p.Ala3281=) n.600T= c.9996T= (p.Ala3332=) c.8901T= (p.Ala2967=) c.5085T= (p.Ala1695=) c.4638T= (p.Ala1546=) c.3975T= (p.Ala1325=) c.8490T= (p.Ala2830=) | |
5 | g.13768969A>C | CA443253457 | DNAH5 | c.9888T>G (p.Ala3296=) c.9843T>G (p.Ala3281=) n.600T>G c.9996T>G (p.Ala3332=) c.8901T>G (p.Ala2967=) c.5085T>G (p.Ala1695=) c.4638T>G (p.Ala1546=) c.3975T>G (p.Ala1325=) c.8490T>G (p.Ala2830=) | |
5 | g.13768969A>G | CA443253464 | DNAH5 | c.9888T>C (p.Ala3296=) c.9843T>C (p.Ala3281=) n.600T>C c.9996T>C (p.Ala3332=) c.8901T>C (p.Ala2967=) c.5085T>C (p.Ala1695=) c.4638T>C (p.Ala1546=) c.3975T>C (p.Ala1325=) c.8490T>C (p.Ala2830=) | |
5 | g.13768969A>T | CA443253465 | DNAH5 | c.9888T>A (p.Ala3296=) c.9843T>A (p.Ala3281=) n.600T>A c.9996T>A (p.Ala3332=) c.8901T>A (p.Ala2967=) c.5085T>A (p.Ala1695=) c.4638T>A (p.Ala1546=) c.3975T>A (p.Ala1325=) c.8490T>A (p.Ala2830=) | dbSNP |
5 | g.13768970G>A | CA359201254 | DNAH5 | c.9887C>T (p.Ala3296Val) c.9842C>T (p.Ala3281Val) n.599C>T c.9995C>T (p.Ala3332Val) c.8900C>T (p.Ala2967Val) c.5084C>T (p.Ala1695Val) c.4637C>T (p.Ala1546Val) c.3974C>T (p.Ala1325Val) c.8489C>T (p.Ala2830Val) | gnomAD v4 |
5 | g.13768970G>C | CA3202408 | DNAH5 | c.9887C>G (p.Ala3296Gly) c.9842C>G (p.Ala3281Gly) n.599C>G c.9995C>G (p.Ala3332Gly) c.8900C>G (p.Ala2967Gly) c.5084C>G (p.Ala1695Gly) c.4637C>G (p.Ala1546Gly) c.3974C>G (p.Ala1325Gly) c.8489C>G (p.Ala2830Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13768970G= | CA1528430328 | DNAH5 | c.9887C= (p.Ala3296=) c.9842C= (p.Ala3281=) n.599C= c.9995C= (p.Ala3332=) c.8900C= (p.Ala2967=) c.5084C= (p.Ala1695=) c.4637C= (p.Ala1546=) c.3974C= (p.Ala1325=) c.8489C= (p.Ala2830=) | |
5 | g.13768970G>T | CA359201262 | DNAH5 | c.9887C>A (p.Ala3296Asp) c.9842C>A (p.Ala3281Asp) n.599C>A c.9995C>A (p.Ala3332Asp) c.8900C>A (p.Ala2967Asp) c.5084C>A (p.Ala1695Asp) c.4637C>A (p.Ala1546Asp) c.3974C>A (p.Ala1325Asp) c.8489C>A (p.Ala2830Asp) | |
5 | g.13768971C>A | CA359201271 | DNAH5 | c.9886G>T (p.Ala3296Ser) c.9841G>T (p.Ala3281Ser) n.598G>T c.9994G>T (p.Ala3332Ser) c.8899G>T (p.Ala2967Ser) c.5083G>T (p.Ala1695Ser) c.4636G>T (p.Ala1546Ser) c.3973G>T (p.Ala1325Ser) c.8488G>T (p.Ala2830Ser) | |
5 | g.13768971C>G | CA359201275 | DNAH5 | c.9886G>C (p.Ala3296Pro) c.9841G>C (p.Ala3281Pro) n.598G>C c.9994G>C (p.Ala3332Pro) c.8899G>C (p.Ala2967Pro) c.5083G>C (p.Ala1695Pro) c.4636G>C (p.Ala1546Pro) c.3973G>C (p.Ala1325Pro) c.8488G>C (p.Ala2830Pro) | gnomAD v4 |
5 | g.13768971C>T | CA359201282 | DNAH5 | c.9886G>A (p.Ala3296Thr) c.9841G>A (p.Ala3281Thr) n.598G>A c.9994G>A (p.Ala3332Thr) c.8899G>A (p.Ala2967Thr) c.5083G>A (p.Ala1695Thr) c.4636G>A (p.Ala1546Thr) c.3973G>A (p.Ala1325Thr) c.8488G>A (p.Ala2830Thr) | |
5 | g.13768972T>A | CA359201286 | DNAH5 | c.9885A>T (p.Glu3295Asp) c.9840A>T (p.Glu3280Asp) n.597A>T c.9993A>T (p.Glu3331Asp) c.8898A>T (p.Glu2966Asp) c.5082A>T (p.Glu1694Asp) c.4635A>T (p.Glu1545Asp) c.3972A>T (p.Glu1324Asp) c.8487A>T (p.Glu2829Asp) | |
5 | g.13768972T>C | CA443253471 | DNAH5 | c.9885A>G (p.Glu3295=) c.9840A>G (p.Glu3280=) n.597A>G c.9993A>G (p.Glu3331=) c.8898A>G (p.Glu2966=) c.5082A>G (p.Glu1694=) c.4635A>G (p.Glu1545=) c.3972A>G (p.Glu1324=) c.8487A>G (p.Glu2829=) | |
5 | g.13768972T>G | CA359201288 | DNAH5 | c.9885A>C (p.Glu3295Asp) c.9840A>C (p.Glu3280Asp) n.597A>C c.9993A>C (p.Glu3331Asp) c.8898A>C (p.Glu2966Asp) c.5082A>C (p.Glu1694Asp) c.4635A>C (p.Glu1545Asp) c.3972A>C (p.Glu1324Asp) c.8487A>C (p.Glu2829Asp) | |
5 | g.13768973T>A | CA359201296 | DNAH5 | c.9884A>T (p.Glu3295Val) c.9839A>T (p.Glu3280Val) n.596A>T c.9992A>T (p.Glu3331Val) c.8897A>T (p.Glu2966Val) c.5081A>T (p.Glu1694Val) c.4634A>T (p.Glu1545Val) c.3971A>T (p.Glu1324Val) c.8486A>T (p.Glu2829Val) | |
5 | g.13768973T>C | CA3202409 | DNAH5 | c.9884A>G (p.Glu3295Gly) c.9839A>G (p.Glu3280Gly) n.596A>G c.9992A>G (p.Glu3331Gly) c.8897A>G (p.Glu2966Gly) c.5081A>G (p.Glu1694Gly) c.4634A>G (p.Glu1545Gly) c.3971A>G (p.Glu1324Gly) c.8486A>G (p.Glu2829Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13768973T>G | CA359201291 | DNAH5 | c.9884A>C (p.Glu3295Ala) c.9839A>C (p.Glu3280Ala) n.596A>C c.9992A>C (p.Glu3331Ala) c.8897A>C (p.Glu2966Ala) c.5081A>C (p.Glu1694Ala) c.4634A>C (p.Glu1545Ala) c.3971A>C (p.Glu1324Ala) c.8486A>C (p.Glu2829Ala) | |
5 | g.13768973T= | CA1528430329 | DNAH5 | c.9884A= (p.Glu3295=) c.9839A= (p.Glu3280=) n.596A= c.9992A= (p.Glu3331=) c.8897A= (p.Glu2966=) c.5081A= (p.Glu1694=) c.4634A= (p.Glu1545=) c.3971A= (p.Glu1324=) c.8486A= (p.Glu2829=) | |
5 | g.13768974C>A | CA359201300 | DNAH5 | c.9883G>T (p.Glu3295Ter) c.9838G>T (p.Glu3280Ter) n.595G>T c.9991G>T (p.Glu3331Ter) c.8896G>T (p.Glu2966Ter) c.5080G>T (p.Glu1694Ter) c.4633G>T (p.Glu1545Ter) c.3970G>T (p.Glu1324Ter) c.8485G>T (p.Glu2829Ter) | |
5 | g.13768974C= | CA1528430330 | DNAH5 | c.9883G= (p.Glu3295=) c.9838G= (p.Glu3280=) n.595G= c.9991G= (p.Glu3331=) c.8896G= (p.Glu2966=) c.5080G= (p.Glu1694=) c.4633G= (p.Glu1545=) c.3970G= (p.Glu1324=) c.8485G= (p.Glu2829=) | |
5 | g.13768974C>G | CA359201299 | DNAH5 | c.9883G>C (p.Glu3295Gln) c.9838G>C (p.Glu3280Gln) n.595G>C c.9991G>C (p.Glu3331Gln) c.8896G>C (p.Glu2966Gln) c.5080G>C (p.Glu1694Gln) c.4633G>C (p.Glu1545Gln) c.3970G>C (p.Glu1324Gln) c.8485G>C (p.Glu2829Gln) | |
5 | g.13768974C>T | CA359201303 | DNAH5 | c.9883G>A (p.Glu3295Lys) c.9838G>A (p.Glu3280Lys) n.595G>A c.9991G>A (p.Glu3331Lys) c.8896G>A (p.Glu2966Lys) c.5080G>A (p.Glu1694Lys) c.4633G>A (p.Glu1545Lys) c.3970G>A (p.Glu1324Lys) c.8485G>A (p.Glu2829Lys) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13768975T>A | CA443253504 | DNAH5 | c.9882A>T (p.Ala3294=) c.9837A>T (p.Ala3279=) n.594A>T c.9990A>T (p.Ala3330=) c.8895A>T (p.Ala2965=) c.5079A>T (p.Ala1693=) c.4632A>T (p.Ala1544=) c.3969A>T (p.Ala1323=) c.8484A>T (p.Ala2828=) | |
5 | g.13768975T>C | CA443253507 | DNAH5 | c.9882A>G (p.Ala3294=) c.9837A>G (p.Ala3279=) n.594A>G c.9990A>G (p.Ala3330=) c.8895A>G (p.Ala2965=) c.5079A>G (p.Ala1693=) c.4632A>G (p.Ala1544=) c.3969A>G (p.Ala1323=) c.8484A>G (p.Ala2828=) | dbSNP |
5 | g.13768975T>G | CA443253510 | DNAH5 | c.9882A>C (p.Ala3294=) c.9837A>C (p.Ala3279=) n.594A>C c.9990A>C (p.Ala3330=) c.8895A>C (p.Ala2965=) c.5079A>C (p.Ala1693=) c.4632A>C (p.Ala1544=) c.3969A>C (p.Ala1323=) c.8484A>C (p.Ala2828=) | ClinVar dbSNP gnomAD v4 |
5 | g.13768975T= | CA1528430331 | DNAH5 | c.9882A= (p.Ala3294=) c.9837A= (p.Ala3279=) n.594A= c.9990A= (p.Ala3330=) c.8895A= (p.Ala2965=) c.5079A= (p.Ala1693=) c.4632A= (p.Ala1544=) c.3969A= (p.Ala1323=) c.8484A= (p.Ala2828=) | |
5 | g.13768976G>A | CA359201304 | DNAH5 | c.9881C>T (p.Ala3294Val) c.9836C>T (p.Ala3279Val) n.593C>T c.9989C>T (p.Ala3330Val) c.8894C>T (p.Ala2965Val) c.5078C>T (p.Ala1693Val) c.4631C>T (p.Ala1544Val) c.3968C>T (p.Ala1323Val) c.8483C>T (p.Ala2828Val) | |
5 | g.13768976G>C | CA359201306 | DNAH5 | c.9881C>G (p.Ala3294Gly) c.9836C>G (p.Ala3279Gly) n.593C>G c.9989C>G (p.Ala3330Gly) c.8894C>G (p.Ala2965Gly) c.5078C>G (p.Ala1693Gly) c.4631C>G (p.Ala1544Gly) c.3968C>G (p.Ala1323Gly) c.8483C>G (p.Ala2828Gly) | gnomAD v4 |
5 | g.13768976G>T | CA359201305 | DNAH5 | c.9881C>A (p.Ala3294Glu) c.9836C>A (p.Ala3279Glu) n.593C>A c.9989C>A (p.Ala3330Glu) c.8894C>A (p.Ala2965Glu) c.5078C>A (p.Ala1693Glu) c.4631C>A (p.Ala1544Glu) c.3968C>A (p.Ala1323Glu) c.8483C>A (p.Ala2828Glu) | |
5 | g.13768977C>A | CA359201307 | DNAH5 | c.9880G>T (p.Ala3294Ser) c.9835G>T (p.Ala3279Ser) n.592G>T c.9988G>T (p.Ala3330Ser) c.8893G>T (p.Ala2965Ser) c.5077G>T (p.Ala1693Ser) c.4630G>T (p.Ala1544Ser) c.3967G>T (p.Ala1323Ser) c.8482G>T (p.Ala2828Ser) | |
5 | g.13768977C= | CA1528430332 | DNAH5 | c.9880G= (p.Ala3294=) c.9835G= (p.Ala3279=) n.592G= c.9988G= (p.Ala3330=) c.8893G= (p.Ala2965=) c.5077G= (p.Ala1693=) c.4630G= (p.Ala1544=) c.3967G= (p.Ala1323=) c.8482G= (p.Ala2828=) | |
5 | g.13768977C>G | CA359201310 | DNAH5 | c.9880G>C (p.Ala3294Pro) c.9835G>C (p.Ala3279Pro) n.592G>C c.9988G>C (p.Ala3330Pro) c.8893G>C (p.Ala2965Pro) c.5077G>C (p.Ala1693Pro) c.4630G>C (p.Ala1544Pro) c.3967G>C (p.Ala1323Pro) c.8482G>C (p.Ala2828Pro) | |
5 | g.13768977C>T | CA113930739 | DNAH5 | c.9880G>A (p.Ala3294Thr) c.9835G>A (p.Ala3279Thr) n.592G>A c.9988G>A (p.Ala3330Thr) c.8893G>A (p.Ala2965Thr) c.5077G>A (p.Ala1693Thr) c.4630G>A (p.Ala1544Thr) c.3967G>A (p.Ala1323Thr) c.8482G>A (p.Ala2828Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13768978C>A | CA359201323 | DNAH5 | c.9879G>T (p.Glu3293Asp) c.9834G>T (p.Glu3278Asp) n.591G>T c.9987G>T (p.Glu3329Asp) c.8892G>T (p.Glu2964Asp) c.5076G>T (p.Glu1692Asp) c.4629G>T (p.Glu1543Asp) c.3966G>T (p.Glu1322Asp) c.8481G>T (p.Glu2827Asp) | |
5 | g.13768978C= | CA1528430333 | DNAH5 | c.9879G= (p.Glu3293=) c.9834G= (p.Glu3278=) n.591G= c.9987G= (p.Glu3329=) c.8892G= (p.Glu2964=) c.5076G= (p.Glu1692=) c.4629G= (p.Glu1543=) c.3966G= (p.Glu1322=) c.8481G= (p.Glu2827=) | |
5 | g.13768978C>G | CA359201327 | DNAH5 | c.9879G>C (p.Glu3293Asp) c.9834G>C (p.Glu3278Asp) n.591G>C c.9987G>C (p.Glu3329Asp) c.8892G>C (p.Glu2964Asp) c.5076G>C (p.Glu1692Asp) c.4629G>C (p.Glu1543Asp) c.3966G>C (p.Glu1322Asp) c.8481G>C (p.Glu2827Asp) | |
5 | g.13768978C>T | CA3202410 | DNAH5 | c.9879G>A (p.Glu3293=) c.9834G>A (p.Glu3278=) n.591G>A c.9987G>A (p.Glu3329=) c.8892G>A (p.Glu2964=) c.5076G>A (p.Glu1692=) c.4629G>A (p.Glu1543=) c.3966G>A (p.Glu1322=) c.8481G>A (p.Glu2827=) | ClinVar dbSNP ExAC gnomAD v4 |
5 | g.13768979T>A | CA359201330 | DNAH5 | c.9878A>T (p.Glu3293Val) c.9833A>T (p.Glu3278Val) n.590A>T c.9986A>T (p.Glu3329Val) c.8891A>T (p.Glu2964Val) c.5075A>T (p.Glu1692Val) c.4628A>T (p.Glu1543Val) c.3965A>T (p.Glu1322Val) c.8480A>T (p.Glu2827Val) | gnomAD v4 |
5 | g.13768979T>C | CA3202411 | DNAH5 | c.9878A>G (p.Glu3293Gly) c.9833A>G (p.Glu3278Gly) n.590A>G c.9986A>G (p.Glu3329Gly) c.8891A>G (p.Glu2964Gly) c.5075A>G (p.Glu1692Gly) c.4628A>G (p.Glu1543Gly) c.3965A>G (p.Glu1322Gly) c.8480A>G (p.Glu2827Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13768979T>G | CA3202412 | DNAH5 | c.9878A>C (p.Glu3293Ala) c.9833A>C (p.Glu3278Ala) n.590A>C c.9986A>C (p.Glu3329Ala) c.8891A>C (p.Glu2964Ala) c.5075A>C (p.Glu1692Ala) c.4628A>C (p.Glu1543Ala) c.3965A>C (p.Glu1322Ala) c.8480A>C (p.Glu2827Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13768979T= | CA1528430334 | DNAH5 | c.9878A= (p.Glu3293=) c.9833A= (p.Glu3278=) n.590A= c.9986A= (p.Glu3329=) c.8891A= (p.Glu2964=) c.5075A= (p.Glu1692=) c.4628A= (p.Glu1543=) c.3965A= (p.Glu1322=) c.8480A= (p.Glu2827=) | |
5 | g.13768980C>A | CA359201339 | DNAH5 | c.9877G>T (p.Glu3293Ter) c.9832G>T (p.Glu3278Ter) n.589G>T c.9985G>T (p.Glu3329Ter) c.8890G>T (p.Glu2964Ter) c.5074G>T (p.Glu1692Ter) c.4627G>T (p.Glu1543Ter) c.3964G>T (p.Glu1322Ter) c.8479G>T (p.Glu2827Ter) | ClinVar dbSNP |
5 | g.13768980C>G | CA359201340 | DNAH5 | c.9877G>C (p.Glu3293Gln) c.9832G>C (p.Glu3278Gln) n.589G>C c.9985G>C (p.Glu3329Gln) c.8890G>C (p.Glu2964Gln) c.5074G>C (p.Glu1692Gln) c.4627G>C (p.Glu1543Gln) c.3964G>C (p.Glu1322Gln) c.8479G>C (p.Glu2827Gln) | |
5 | g.13768980C>T | CA359201341 | DNAH5 | c.9877G>A (p.Glu3293Lys) c.9832G>A (p.Glu3278Lys) n.589G>A c.9985G>A (p.Glu3329Lys) c.8890G>A (p.Glu2964Lys) c.5074G>A (p.Glu1692Lys) c.4627G>A (p.Glu1543Lys) c.3964G>A (p.Glu1322Lys) c.8479G>A (p.Glu2827Lys) | |
5 | g.13768980_13768981delinsCT | CA1528430335 | DNAH5 | c.9876_9877delinsAG (p.Glu3292=) c.9831_9832delinsAG (p.Glu3277=) n.588_589delinsAG c.9984_9985delinsAG (p.Glu3328=) c.8889_8890delinsAG (p.Glu2963=) c.5073_5074delinsAG (p.Glu1691=) c.4626_4627delinsAG (p.Glu1542=) c.3963_3964delinsAG (p.Glu1321=) c.8478_8479delinsAG (p.Glu2826=) | |
5 | g.13768981T>A | CA359201349 | DNAH5 | c.9876A>T (p.Glu3292Asp) c.9831A>T (p.Glu3277Asp) n.588A>T c.9984A>T (p.Glu3328Asp) c.8889A>T (p.Glu2963Asp) c.5073A>T (p.Glu1691Asp) c.4626A>T (p.Glu1542Asp) c.3963A>T (p.Glu1321Asp) c.8478A>T (p.Glu2826Asp) | |
5 | g.13768981T>C | CA443253537 | DNAH5 | c.9876A>G (p.Glu3292=) c.9831A>G (p.Glu3277=) n.588A>G c.9984A>G (p.Glu3328=) c.8889A>G (p.Glu2963=) c.5073A>G (p.Glu1691=) c.4626A>G (p.Glu1542=) c.3963A>G (p.Glu1321=) c.8478A>G (p.Glu2826=) | |
5 | g.13768981T>G | CA359201343 | DNAH5 | c.9876A>C (p.Glu3292Asp) c.9831A>C (p.Glu3277Asp) n.588A>C c.9984A>C (p.Glu3328Asp) c.8889A>C (p.Glu2963Asp) c.5073A>C (p.Glu1691Asp) c.4626A>C (p.Glu1542Asp) c.3963A>C (p.Glu1321Asp) c.8478A>C (p.Glu2826Asp) | |
5 | g.13768982del | CA3202413 | DNAH5 | c.9876del (p.Glu3293ArgfsTer?) c.9831del (p.Glu3278ArgfsTer?) n.588del c.9984del (p.Glu3329ArgfsTer?) c.8889del (p.Glu2964ArgfsTer?) c.5073del (p.Glu1692ArgfsTer?) c.4626del (p.Glu1543ArgfsTer?) c.3963del (p.Glu1322ArgfsTer?) c.8478del (p.Glu2827ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13768982T>A | CA359201362 | DNAH5 | c.9875A>T (p.Glu3292Val) c.9830A>T (p.Glu3277Val) n.587A>T c.9983A>T (p.Glu3328Val) c.8888A>T (p.Glu2963Val) c.5072A>T (p.Glu1691Val) c.4625A>T (p.Glu1542Val) c.3962A>T (p.Glu1321Val) c.8477A>T (p.Glu2826Val) | |
5 | g.13768982T>C | CA359201363 | DNAH5 | c.9875A>G (p.Glu3292Gly) c.9830A>G (p.Glu3277Gly) n.587A>G c.9983A>G (p.Glu3328Gly) c.8888A>G (p.Glu2963Gly) c.5072A>G (p.Glu1691Gly) c.4625A>G (p.Glu1542Gly) c.3962A>G (p.Glu1321Gly) c.8477A>G (p.Glu2826Gly) | |
5 | g.13768982T>G | CA359201365 | DNAH5 | c.9875A>C (p.Glu3292Ala) c.9830A>C (p.Glu3277Ala) n.587A>C c.9983A>C (p.Glu3328Ala) c.8888A>C (p.Glu2963Ala) c.5072A>C (p.Glu1691Ala) c.4625A>C (p.Glu1542Ala) c.3962A>C (p.Glu1321Ala) c.8477A>C (p.Glu2826Ala) | |
5 | g.13768983C>A | CA359201371 | DNAH5 | c.9874G>T (p.Glu3292Ter) c.9829G>T (p.Glu3277Ter) n.586G>T c.9982G>T (p.Glu3328Ter) c.8887G>T (p.Glu2963Ter) c.5071G>T (p.Glu1691Ter) c.4624G>T (p.Glu1542Ter) c.3961G>T (p.Glu1321Ter) c.8476G>T (p.Glu2826Ter) | |
5 | g.13768983C>G | CA359201374 | DNAH5 | c.9874G>C (p.Glu3292Gln) c.9829G>C (p.Glu3277Gln) n.586G>C c.9982G>C (p.Glu3328Gln) c.8887G>C (p.Glu2963Gln) c.5071G>C (p.Glu1691Gln) c.4624G>C (p.Glu1542Gln) c.3961G>C (p.Glu1321Gln) c.8476G>C (p.Glu2826Gln) | gnomAD v4 |
5 | g.13768983C>T | CA359201377 | DNAH5 | c.9874G>A (p.Glu3292Lys) c.9829G>A (p.Glu3277Lys) n.586G>A c.9982G>A (p.Glu3328Lys) c.8887G>A (p.Glu2963Lys) c.5071G>A (p.Glu1691Lys) c.4624G>A (p.Glu1542Lys) c.3961G>A (p.Glu1321Lys) c.8476G>A (p.Glu2826Lys) | |
5 | g.13768984T>A | CA359201382 | DNAH5 | c.9873A>T (p.Leu3291Phe) c.9828A>T (p.Leu3276Phe) n.585A>T c.9981A>T (p.Leu3327Phe) c.8886A>T (p.Leu2962Phe) c.5070A>T (p.Leu1690Phe) c.4623A>T (p.Leu1541Phe) c.3960A>T (p.Leu1320Phe) c.8475A>T (p.Leu2825Phe) | |
5 | g.13768984T>C | CA443253553 | DNAH5 | c.9873A>G (p.Leu3291=) c.9828A>G (p.Leu3276=) n.585A>G c.9981A>G (p.Leu3327=) c.8886A>G (p.Leu2962=) c.5070A>G (p.Leu1690=) c.4623A>G (p.Leu1541=) c.3960A>G (p.Leu1320=) c.8475A>G (p.Leu2825=) | |
5 | g.13768984T>G | CA359201388 | DNAH5 | c.9873A>C (p.Leu3291Phe) c.9828A>C (p.Leu3276Phe) n.585A>C c.9981A>C (p.Leu3327Phe) c.8886A>C (p.Leu2962Phe) c.5070A>C (p.Leu1690Phe) c.4623A>C (p.Leu1541Phe) c.3960A>C (p.Leu1320Phe) c.8475A>C (p.Leu2825Phe) | |
5 | g.13768985A>C | CA359201391 | DNAH5 | c.9872T>G (p.Leu3291Ter) c.9827T>G (p.Leu3276Ter) n.584T>G c.9980T>G (p.Leu3327Ter) c.8885T>G (p.Leu2962Ter) c.5069T>G (p.Leu1690Ter) c.4622T>G (p.Leu1541Ter) c.3959T>G (p.Leu1320Ter) c.8474T>G (p.Leu2825Ter) | gnomAD v4 |
5 | g.13768985A>G | CA359201393 | DNAH5 | c.9872T>C (p.Leu3291Ser) c.9827T>C (p.Leu3276Ser) n.584T>C c.9980T>C (p.Leu3327Ser) c.8885T>C (p.Leu2962Ser) c.5069T>C (p.Leu1690Ser) c.4622T>C (p.Leu1541Ser) c.3959T>C (p.Leu1320Ser) c.8474T>C (p.Leu2825Ser) | |
5 | g.13768985A>T | CA359201395 | DNAH5 | c.9872T>A (p.Leu3291Ter) c.9827T>A (p.Leu3276Ter) n.584T>A c.9980T>A (p.Leu3327Ter) c.8885T>A (p.Leu2962Ter) c.5069T>A (p.Leu1690Ter) c.4622T>A (p.Leu1541Ter) c.3959T>A (p.Leu1320Ter) c.8474T>A (p.Leu2825Ter) | |
5 | g.13768986A= | CA1528430336 | DNAH5 | c.9871T= (p.Leu3291=) c.9826T= (p.Leu3276=) n.583T= c.9979T= (p.Leu3327=) c.8884T= (p.Leu2962=) c.5068T= (p.Leu1690=) c.4621T= (p.Leu1541=) c.3958T= (p.Leu1320=) c.8473T= (p.Leu2825=) | |
5 | g.13768986A>C | CA359201397 | DNAH5 | c.9871T>G (p.Leu3291Val) c.9826T>G (p.Leu3276Val) n.583T>G c.9979T>G (p.Leu3327Val) c.8884T>G (p.Leu2962Val) c.5068T>G (p.Leu1690Val) c.4621T>G (p.Leu1541Val) c.3958T>G (p.Leu1320Val) c.8473T>G (p.Leu2825Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13768986A>G | CA443253568 | DNAH5 | c.9871T>C (p.Leu3291=) c.9826T>C (p.Leu3276=) n.583T>C c.9979T>C (p.Leu3327=) c.8884T>C (p.Leu2962=) c.5068T>C (p.Leu1690=) c.4621T>C (p.Leu1541=) c.3958T>C (p.Leu1320=) c.8473T>C (p.Leu2825=) | ClinVar dbSNP |
5 | g.13768986A>T | CA359201398 | DNAH5 | c.9871T>A (p.Leu3291Ile) c.9826T>A (p.Leu3276Ile) n.583T>A c.9979T>A (p.Leu3327Ile) c.8884T>A (p.Leu2962Ile) c.5068T>A (p.Leu1690Ile) c.4621T>A (p.Leu1541Ile) c.3958T>A (p.Leu1320Ile) c.8473T>A (p.Leu2825Ile) | |
5 | g.13768987A= | CA1528430337 | DNAH5 | c.9870T= (p.Ala3290=) c.9825T= (p.Ala3275=) n.582T= c.9978T= (p.Ala3326=) c.8883T= (p.Ala2961=) c.5067T= (p.Ala1689=) c.4620T= (p.Ala1540=) c.3957T= (p.Ala1319=) c.8472T= (p.Ala2824=) | |
5 | g.13768987A>C | CA443253594 | DNAH5 | c.9870T>G (p.Ala3290=) c.9825T>G (p.Ala3275=) n.582T>G c.9978T>G (p.Ala3326=) c.8883T>G (p.Ala2961=) c.5067T>G (p.Ala1689=) c.4620T>G (p.Ala1540=) c.3957T>G (p.Ala1319=) c.8472T>G (p.Ala2824=) | |
5 | g.13768987A>G | CA443253595 | DNAH5 | c.9870T>C (p.Ala3290=) c.9825T>C (p.Ala3275=) n.582T>C c.9978T>C (p.Ala3326=) c.8883T>C (p.Ala2961=) c.5067T>C (p.Ala1689=) c.4620T>C (p.Ala1540=) c.3957T>C (p.Ala1319=) c.8472T>C (p.Ala2824=) | |
5 | g.13768987A>T | CA443253591 | DNAH5 | c.9870T>A (p.Ala3290=) c.9825T>A (p.Ala3275=) n.582T>A c.9978T>A (p.Ala3326=) c.8883T>A (p.Ala2961=) c.5067T>A (p.Ala1689=) c.4620T>A (p.Ala1540=) c.3957T>A (p.Ala1319=) c.8472T>A (p.Ala2824=) | dbSNP |
5 | g.13768988G>A | CA359201403 | DNAH5 | c.9869C>T (p.Ala3290Val) c.9824C>T (p.Ala3275Val) n.581C>T c.9977C>T (p.Ala3326Val) c.8882C>T (p.Ala2961Val) c.5066C>T (p.Ala1689Val) c.4619C>T (p.Ala1540Val) c.3956C>T (p.Ala1319Val) c.8471C>T (p.Ala2824Val) | |
5 | g.13768988G>C | CA359201407 | DNAH5 | c.9869C>G (p.Ala3290Gly) c.9824C>G (p.Ala3275Gly) n.581C>G c.9977C>G (p.Ala3326Gly) c.8882C>G (p.Ala2961Gly) c.5066C>G (p.Ala1689Gly) c.4619C>G (p.Ala1540Gly) c.3956C>G (p.Ala1319Gly) c.8471C>G (p.Ala2824Gly) | dbSNP |
5 | g.13768988G= | CA1528430338 | DNAH5 | c.9869C= (p.Ala3290=) c.9824C= (p.Ala3275=) n.581C= c.9977C= (p.Ala3326=) c.8882C= (p.Ala2961=) c.5066C= (p.Ala1689=) c.4619C= (p.Ala1540=) c.3956C= (p.Ala1319=) c.8471C= (p.Ala2824=) | |
5 | g.13768988G>T | CA359201417 | DNAH5 | c.9869C>A (p.Ala3290Asp) c.9824C>A (p.Ala3275Asp) n.581C>A c.9977C>A (p.Ala3326Asp) c.8882C>A (p.Ala2961Asp) c.5066C>A (p.Ala1689Asp) c.4619C>A (p.Ala1540Asp) c.3956C>A (p.Ala1319Asp) c.8471C>A (p.Ala2824Asp) | |
5 | g.13768989C>A | CA359201420 | DNAH5 | c.9868G>T (p.Ala3290Ser) c.9823G>T (p.Ala3275Ser) n.580G>T c.9976G>T (p.Ala3326Ser) c.8881G>T (p.Ala2961Ser) c.5065G>T (p.Ala1689Ser) c.4618G>T (p.Ala1540Ser) c.3955G>T (p.Ala1319Ser) c.8470G>T (p.Ala2824Ser) | |
5 | g.13768989C>G | CA359201421 | DNAH5 | c.9868G>C (p.Ala3290Pro) c.9823G>C (p.Ala3275Pro) n.580G>C c.9976G>C (p.Ala3326Pro) c.8881G>C (p.Ala2961Pro) c.5065G>C (p.Ala1689Pro) c.4618G>C (p.Ala1540Pro) c.3955G>C (p.Ala1319Pro) c.8470G>C (p.Ala2824Pro) | |
5 | g.13768989C>T | CA359201423 | DNAH5 | c.9868G>A (p.Ala3290Thr) c.9823G>A (p.Ala3275Thr) n.580G>A c.9976G>A (p.Ala3326Thr) c.8881G>A (p.Ala2961Thr) c.5065G>A (p.Ala1689Thr) c.4618G>A (p.Ala1540Thr) c.3955G>A (p.Ala1319Thr) c.8470G>A (p.Ala2824Thr) | gnomAD v4 |
5 | g.13768989_13768990delinsCT | CA1528430339 | DNAH5 | c.9867_9868delinsAG (p.Pro3289=) c.9822_9823delinsAG (p.Pro3274=) n.579_580delinsAG c.9975_9976delinsAG (p.Pro3325=) c.8880_8881delinsAG (p.Pro2960=) c.5064_5065delinsAG (p.Pro1688=) c.4617_4618delinsAG (p.Pro1539=) c.3954_3955delinsAG (p.Pro1318=) c.8469_8470delinsAG (p.Pro2823=) | |
5 | g.13768990del | CA1073407715 | DNAH5 | c.9867del (p.Ala3290LeufsTer2) c.9822del (p.Ala3275LeufsTer2) n.579del c.9975del (p.Ala3326LeufsTer2) c.8880del (p.Ala2961LeufsTer2) c.5064del (p.Ala1689LeufsTer2) c.4617del (p.Ala1540LeufsTer2) c.3954del (p.Ala1319LeufsTer2) c.8469del (p.Ala2824LeufsTer2) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13768990T>A | CA443253608 | DNAH5 | c.9867A>T (p.Pro3289=) c.9822A>T (p.Pro3274=) n.579A>T c.9975A>T (p.Pro3325=) c.8880A>T (p.Pro2960=) c.5064A>T (p.Pro1688=) c.4617A>T (p.Pro1539=) c.3954A>T (p.Pro1318=) c.8469A>T (p.Pro2823=) | |
5 | g.13768990T>C | CA443253612 | DNAH5 | c.9867A>G (p.Pro3289=) c.9822A>G (p.Pro3274=) n.579A>G c.9975A>G (p.Pro3325=) c.8880A>G (p.Pro2960=) c.5064A>G (p.Pro1688=) c.4617A>G (p.Pro1539=) c.3954A>G (p.Pro1318=) c.8469A>G (p.Pro2823=) | gnomAD v4 |
5 | g.13768990T>G | CA443253614 | DNAH5 | c.9867A>C (p.Pro3289=) c.9822A>C (p.Pro3274=) n.579A>C c.9975A>C (p.Pro3325=) c.8880A>C (p.Pro2960=) c.5064A>C (p.Pro1688=) c.4617A>C (p.Pro1539=) c.3954A>C (p.Pro1318=) c.8469A>C (p.Pro2823=) | |
5 | g.13768991G>A | CA359201425 | DNAH5 | c.9866C>T (p.Pro3289Leu) c.9821C>T (p.Pro3274Leu) n.578C>T c.9974C>T (p.Pro3325Leu) c.8879C>T (p.Pro2960Leu) c.5063C>T (p.Pro1688Leu) c.4616C>T (p.Pro1539Leu) c.3953C>T (p.Pro1318Leu) c.8468C>T (p.Pro2823Leu) | |
5 | g.13768991G>C | CA359201428 | DNAH5 | c.9866C>G (p.Pro3289Arg) c.9821C>G (p.Pro3274Arg) n.578C>G c.9974C>G (p.Pro3325Arg) c.8879C>G (p.Pro2960Arg) c.5063C>G (p.Pro1688Arg) c.4616C>G (p.Pro1539Arg) c.3953C>G (p.Pro1318Arg) c.8468C>G (p.Pro2823Arg) | |
5 | g.13768991G>T | CA359201433 | DNAH5 | c.9866C>A (p.Pro3289Gln) c.9821C>A (p.Pro3274Gln) n.578C>A c.9974C>A (p.Pro3325Gln) c.8879C>A (p.Pro2960Gln) c.5063C>A (p.Pro1688Gln) c.4616C>A (p.Pro1539Gln) c.3953C>A (p.Pro1318Gln) c.8468C>A (p.Pro2823Gln) | |
5 | g.13768992G>A | CA359201437 | DNAH5 | c.9865C>T (p.Pro3289Ser) c.9820C>T (p.Pro3274Ser) n.577C>T c.9973C>T (p.Pro3325Ser) c.8878C>T (p.Pro2960Ser) c.5062C>T (p.Pro1688Ser) c.4615C>T (p.Pro1539Ser) c.3952C>T (p.Pro1318Ser) c.8467C>T (p.Pro2823Ser) | COSMIC |
5 | g.13768992G>C | CA359201447 | DNAH5 | c.9865C>G (p.Pro3289Ala) c.9820C>G (p.Pro3274Ala) n.577C>G c.9973C>G (p.Pro3325Ala) c.8878C>G (p.Pro2960Ala) c.5062C>G (p.Pro1688Ala) c.4615C>G (p.Pro1539Ala) c.3952C>G (p.Pro1318Ala) c.8467C>G (p.Pro2823Ala) | |
5 | g.13768992G>T | CA359201452 | DNAH5 | c.9865C>A (p.Pro3289Thr) c.9820C>A (p.Pro3274Thr) n.577C>A c.9973C>A (p.Pro3325Thr) c.8878C>A (p.Pro2960Thr) c.5062C>A (p.Pro1688Thr) c.4615C>A (p.Pro1539Thr) c.3952C>A (p.Pro1318Thr) c.8467C>A (p.Pro2823Thr) | |
5 | g.13768993T>A | CA359201460 | DNAH5 | c.9864A>T (p.Lys3288Asn) c.9819A>T (p.Lys3273Asn) n.576A>T c.9972A>T (p.Lys3324Asn) c.8877A>T (p.Lys2959Asn) c.5061A>T (p.Lys1687Asn) c.4614A>T (p.Lys1538Asn) c.3951A>T (p.Lys1317Asn) c.8466A>T (p.Lys2822Asn) | |
5 | g.13768993T>C | CA3202414 | DNAH5 | c.9864A>G (p.Lys3288=) c.9819A>G (p.Lys3273=) n.576A>G c.9972A>G (p.Lys3324=) c.8877A>G (p.Lys2959=) c.5061A>G (p.Lys1687=) c.4614A>G (p.Lys1538=) c.3951A>G (p.Lys1317=) c.8466A>G (p.Lys2822=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13768993T>G | CA359201457 | DNAH5 | c.9864A>C (p.Lys3288Asn) c.9819A>C (p.Lys3273Asn) n.576A>C c.9972A>C (p.Lys3324Asn) c.8877A>C (p.Lys2959Asn) c.5061A>C (p.Lys1687Asn) c.4614A>C (p.Lys1538Asn) c.3951A>C (p.Lys1317Asn) c.8466A>C (p.Lys2822Asn) | |
5 | g.13768993T= | CA1528430340 | DNAH5 | c.9864A= (p.Lys3288=) c.9819A= (p.Lys3273=) n.576A= c.9972A= (p.Lys3324=) c.8877A= (p.Lys2959=) c.5061A= (p.Lys1687=) c.4614A= (p.Lys1538=) c.3951A= (p.Lys1317=) c.8466A= (p.Lys2822=) | |
5 | g.13768996dup | CA2695204134 | DNAH5 | c.9864dup (p.Pro3289ThrfsTer?) c.9819dup (p.Pro3274ThrfsTer?) n.576dup c.9972dup (p.Pro3325ThrfsTer?) c.8877dup (p.Pro2960ThrfsTer?) c.5061dup (p.Pro1688ThrfsTer?) c.4614dup (p.Pro1539ThrfsTer?) c.3951dup (p.Pro1318ThrfsTer?) c.8466dup (p.Pro2823ThrfsTer?) | |
5 | g.13768994T>A | CA359201462 | DNAH5 | c.9863A>T (p.Lys3288Ile) c.9818A>T (p.Lys3273Ile) n.575A>T c.9971A>T (p.Lys3324Ile) c.8876A>T (p.Lys2959Ile) c.5060A>T (p.Lys1687Ile) c.4613A>T (p.Lys1538Ile) c.3950A>T (p.Lys1317Ile) c.8465A>T (p.Lys2822Ile) | |
5 | g.13768994T>C | CA359201463 | DNAH5 | c.9863A>G (p.Lys3288Arg) c.9818A>G (p.Lys3273Arg) n.575A>G c.9971A>G (p.Lys3324Arg) c.8876A>G (p.Lys2959Arg) c.5060A>G (p.Lys1687Arg) c.4613A>G (p.Lys1538Arg) c.3950A>G (p.Lys1317Arg) c.8465A>G (p.Lys2822Arg) | |
5 | g.13768994T>G | CA359201465 | DNAH5 | c.9863A>C (p.Lys3288Thr) c.9818A>C (p.Lys3273Thr) n.575A>C c.9971A>C (p.Lys3324Thr) c.8876A>C (p.Lys2959Thr) c.5060A>C (p.Lys1687Thr) c.4613A>C (p.Lys1538Thr) c.3950A>C (p.Lys1317Thr) c.8465A>C (p.Lys2822Thr) | |
5 | g.13768995T>A | CA359201470 | DNAH5 | c.9862A>T (p.Lys3288Ter) c.9817A>T (p.Lys3273Ter) n.574A>T c.9970A>T (p.Lys3324Ter) c.8875A>T (p.Lys2959Ter) c.5059A>T (p.Lys1687Ter) c.4612A>T (p.Lys1538Ter) c.3949A>T (p.Lys1317Ter) c.8464A>T (p.Lys2822Ter) | |
5 | g.13768995T>C | CA359201477 | DNAH5 | c.9862A>G (p.Lys3288Glu) c.9817A>G (p.Lys3273Glu) n.574A>G c.9970A>G (p.Lys3324Glu) c.8875A>G (p.Lys2959Glu) c.5059A>G (p.Lys1687Glu) c.4612A>G (p.Lys1538Glu) c.3949A>G (p.Lys1317Glu) c.8464A>G (p.Lys2822Glu) | |
5 | g.13768995T>G | CA359201483 | DNAH5 | c.9862A>C (p.Lys3288Gln) c.9817A>C (p.Lys3273Gln) n.574A>C c.9970A>C (p.Lys3324Gln) c.8875A>C (p.Lys2959Gln) c.5059A>C (p.Lys1687Gln) c.4612A>C (p.Lys1538Gln) c.3949A>C (p.Lys1317Gln) c.8464A>C (p.Lys2822Gln) | |
5 | g.13768996T>A | CA443253660 | DNAH5 | c.9861A>T (p.Ala3287=) c.9816A>T (p.Ala3272=) n.573A>T c.9969A>T (p.Ala3323=) c.8874A>T (p.Ala2958=) c.5058A>T (p.Ala1686=) c.4611A>T (p.Ala1537=) c.3948A>T (p.Ala1316=) c.8463A>T (p.Ala2821=) | |
5 | g.13768996T>C | CA443253661 | DNAH5 | c.9861A>G (p.Ala3287=) c.9816A>G (p.Ala3272=) n.573A>G c.9969A>G (p.Ala3323=) c.8874A>G (p.Ala2958=) c.5058A>G (p.Ala1686=) c.4611A>G (p.Ala1537=) c.3948A>G (p.Ala1316=) c.8463A>G (p.Ala2821=) | |
5 | g.13768996T>G | CA443253662 | DNAH5 | c.9861A>C (p.Ala3287=) c.9816A>C (p.Ala3272=) n.573A>C c.9969A>C (p.Ala3323=) c.8874A>C (p.Ala2958=) c.5058A>C (p.Ala1686=) c.4611A>C (p.Ala1537=) c.3948A>C (p.Ala1316=) c.8463A>C (p.Ala2821=) | |
5 | g.13769000_13769002del | CA2673269718 | DNAH5 | c.9859_9861del (p.Ala3287del) c.9814_9816del (p.Ala3272del) n.571_573del c.9967_9969del (p.Ala3323del) c.8872_8874del (p.Ala2958del) c.5056_5058del (p.Ala1686del) c.4609_4611del (p.Ala1537del) c.3946_3948del (p.Ala1316del) c.8461_8463del (p.Ala2821del) | gnomAD v4 |
5 | g.13768997G>A | CA359201497 | DNAH5 | c.9860C>T (p.Ala3287Val) c.9815C>T (p.Ala3272Val) n.572C>T c.9968C>T (p.Ala3323Val) c.8873C>T (p.Ala2958Val) c.5057C>T (p.Ala1686Val) c.4610C>T (p.Ala1537Val) c.3947C>T (p.Ala1316Val) c.8462C>T (p.Ala2821Val) | gnomAD v4 |
5 | g.13768997G>C | CA359201500 | DNAH5 | c.9860C>G (p.Ala3287Gly) c.9815C>G (p.Ala3272Gly) n.572C>G c.9968C>G (p.Ala3323Gly) c.8873C>G (p.Ala2958Gly) c.5057C>G (p.Ala1686Gly) c.4610C>G (p.Ala1537Gly) c.3947C>G (p.Ala1316Gly) c.8462C>G (p.Ala2821Gly) | gnomAD v4 |
5 | g.13768997G>T | CA359201501 | DNAH5 | c.9860C>A (p.Ala3287Glu) c.9815C>A (p.Ala3272Glu) n.572C>A c.9968C>A (p.Ala3323Glu) c.8873C>A (p.Ala2958Glu) c.5057C>A (p.Ala1686Glu) c.4610C>A (p.Ala1537Glu) c.3947C>A (p.Ala1316Glu) c.8462C>A (p.Ala2821Glu) | gnomAD v4 |
5 | g.13768998C>A | CA359201504 | DNAH5 | c.9859G>T (p.Ala3287Ser) c.9814G>T (p.Ala3272Ser) n.571G>T c.9967G>T (p.Ala3323Ser) c.8872G>T (p.Ala2958Ser) c.5056G>T (p.Ala1686Ser) c.4609G>T (p.Ala1537Ser) c.3946G>T (p.Ala1316Ser) c.8461G>T (p.Ala2821Ser) | |
5 | g.13768998C= | CA1528430341 | DNAH5 | c.9859G= (p.Ala3287=) c.9814G= (p.Ala3272=) n.571G= c.9967G= (p.Ala3323=) c.8872G= (p.Ala2958=) c.5056G= (p.Ala1686=) c.4609G= (p.Ala1537=) c.3946G= (p.Ala1316=) c.8461G= (p.Ala2821=) | |
5 | g.13768998C>G | CA359201506 | DNAH5 | c.9859G>C (p.Ala3287Pro) c.9814G>C (p.Ala3272Pro) n.571G>C c.9967G>C (p.Ala3323Pro) c.8872G>C (p.Ala2958Pro) c.5056G>C (p.Ala1686Pro) c.4609G>C (p.Ala1537Pro) c.3946G>C (p.Ala1316Pro) c.8461G>C (p.Ala2821Pro) | |
5 | g.13768998C>T | CA3202415 | DNAH5 | c.9859G>A (p.Ala3287Thr) c.9814G>A (p.Ala3272Thr) n.571G>A c.9967G>A (p.Ala3323Thr) c.8872G>A (p.Ala2958Thr) c.5056G>A (p.Ala1686Thr) c.4609G>A (p.Ala1537Thr) c.3946G>A (p.Ala1316Thr) c.8461G>A (p.Ala2821Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13768999T>A | CA443253677 | DNAH5 | c.9858A>T (p.Ala3286=) c.9813A>T (p.Ala3271=) n.570A>T c.9966A>T (p.Ala3322=) c.8871A>T (p.Ala2957=) c.5055A>T (p.Ala1685=) c.4608A>T (p.Ala1536=) c.3945A>T (p.Ala1315=) c.8460A>T (p.Ala2820=) | |
5 | g.13768999T>C | CA443253682 | DNAH5 | c.9858A>G (p.Ala3286=) c.9813A>G (p.Ala3271=) n.570A>G c.9966A>G (p.Ala3322=) c.8871A>G (p.Ala2957=) c.5055A>G (p.Ala1685=) c.4608A>G (p.Ala1536=) c.3945A>G (p.Ala1315=) c.8460A>G (p.Ala2820=) | gnomAD v4 |
5 | g.13768999T>G | CA443253679 | DNAH5 | c.9858A>C (p.Ala3286=) c.9813A>C (p.Ala3271=) n.570A>C c.9966A>C (p.Ala3322=) c.8871A>C (p.Ala2957=) c.5055A>C (p.Ala1685=) c.4608A>C (p.Ala1536=) c.3945A>C (p.Ala1315=) c.8460A>C (p.Ala2820=) | |
5 | g.13769000G>A | CA113930771 | DNAH5 | c.9857C>T (p.Ala3286Val) c.9812C>T (p.Ala3271Val) n.569C>T c.9965C>T (p.Ala3322Val) c.8870C>T (p.Ala2957Val) c.5054C>T (p.Ala1685Val) c.4607C>T (p.Ala1536Val) c.3944C>T (p.Ala1315Val) c.8459C>T (p.Ala2820Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13769000G>C | CA359201512 | DNAH5 | c.9857C>G (p.Ala3286Gly) c.9812C>G (p.Ala3271Gly) n.569C>G c.9965C>G (p.Ala3322Gly) c.8870C>G (p.Ala2957Gly) c.5054C>G (p.Ala1685Gly) c.4607C>G (p.Ala1536Gly) c.3944C>G (p.Ala1315Gly) c.8459C>G (p.Ala2820Gly) | |
5 | g.13769000G= | CA1528430342 | DNAH5 | c.9857C= (p.Ala3286=) c.9812C= (p.Ala3271=) n.569C= c.9965C= (p.Ala3322=) c.8870C= (p.Ala2957=) c.5054C= (p.Ala1685=) c.4607C= (p.Ala1536=) c.3944C= (p.Ala1315=) c.8459C= (p.Ala2820=) | |
5 | g.13769000G>T | CA359201507 | DNAH5 | c.9857C>A (p.Ala3286Glu) c.9812C>A (p.Ala3271Glu) n.569C>A c.9965C>A (p.Ala3322Glu) c.8870C>A (p.Ala2957Glu) c.5054C>A (p.Ala1685Glu) c.4607C>A (p.Ala1536Glu) c.3944C>A (p.Ala1315Glu) c.8459C>A (p.Ala2820Glu) | |
5 | g.13769001C>A | CA359201524 | DNAH5 | c.9856G>T (p.Ala3286Ser) c.9811G>T (p.Ala3271Ser) n.568G>T c.9964G>T (p.Ala3322Ser) c.8869G>T (p.Ala2957Ser) c.5053G>T (p.Ala1685Ser) c.4606G>T (p.Ala1536Ser) c.3943G>T (p.Ala1315Ser) c.8458G>T (p.Ala2820Ser) | dbSNP |
5 | g.13769001C= | CA1528430343 | DNAH5 | c.9856G= (p.Ala3286=) c.9811G= (p.Ala3271=) n.568G= c.9964G= (p.Ala3322=) c.8869G= (p.Ala2957=) c.5053G= (p.Ala1685=) c.4606G= (p.Ala1536=) c.3943G= (p.Ala1315=) c.8458G= (p.Ala2820=) | |
5 | g.13769001C>G | CA359201519 | DNAH5 | c.9856G>C (p.Ala3286Pro) c.9811G>C (p.Ala3271Pro) n.568G>C c.9964G>C (p.Ala3322Pro) c.8869G>C (p.Ala2957Pro) c.5053G>C (p.Ala1685Pro) c.4606G>C (p.Ala1536Pro) c.3943G>C (p.Ala1315Pro) c.8458G>C (p.Ala2820Pro) | |
5 | g.13769001C>T | CA3202416 | DNAH5 | c.9856G>A (p.Ala3286Thr) c.9811G>A (p.Ala3271Thr) n.568G>A c.9964G>A (p.Ala3322Thr) c.8869G>A (p.Ala2957Thr) c.5053G>A (p.Ala1685Thr) c.4606G>A (p.Ala1536Thr) c.3943G>A (p.Ala1315Thr) c.8458G>A (p.Ala2820Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.13769002T>A | CA359201526 | DNAH5 | c.9855A>T (p.Glu3285Asp) c.9810A>T (p.Glu3270Asp) n.567A>T c.9963A>T (p.Glu3321Asp) c.8868A>T (p.Glu2956Asp) c.5052A>T (p.Glu1684Asp) c.4605A>T (p.Glu1535Asp) c.3942A>T (p.Glu1314Asp) c.8457A>T (p.Glu2819Asp) | |
5 | g.13769002T>C | CA443253694 | DNAH5 | c.9855A>G (p.Glu3285=) c.9810A>G (p.Glu3270=) n.567A>G c.9963A>G (p.Glu3321=) c.8868A>G (p.Glu2956=) c.5052A>G (p.Glu1684=) c.4605A>G (p.Glu1535=) c.3942A>G (p.Glu1314=) c.8457A>G (p.Glu2819=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13769002T>G | CA359201542 | DNAH5 | c.9855A>C (p.Glu3285Asp) c.9810A>C (p.Glu3270Asp) n.567A>C c.9963A>C (p.Glu3321Asp) c.8868A>C (p.Glu2956Asp) c.5052A>C (p.Glu1684Asp) c.4605A>C (p.Glu1535Asp) c.3942A>C (p.Glu1314Asp) c.8457A>C (p.Glu2819Asp) | |
5 | g.13769002T= | CA1528430344 | DNAH5 | c.9855A= (p.Glu3285=) c.9810A= (p.Glu3270=) n.567A= c.9963A= (p.Glu3321=) c.8868A= (p.Glu2956=) c.5052A= (p.Glu1684=) c.4605A= (p.Glu1535=) c.3942A= (p.Glu1314=) c.8457A= (p.Glu2819=) | |
5 | g.13769003T>A | CA359201546 | DNAH5 | c.9854A>T (p.Glu3285Val) c.9809A>T (p.Glu3270Val) n.566A>T c.9962A>T (p.Glu3321Val) c.8867A>T (p.Glu2956Val) c.5051A>T (p.Glu1684Val) c.4604A>T (p.Glu1535Val) c.3941A>T (p.Glu1314Val) c.8456A>T (p.Glu2819Val) | |
5 | g.13769003T>C | CA359201549 | DNAH5 | c.9854A>G (p.Glu3285Gly) c.9809A>G (p.Glu3270Gly) n.566A>G c.9962A>G (p.Glu3321Gly) c.8867A>G (p.Glu2956Gly) c.5051A>G (p.Glu1684Gly) c.4604A>G (p.Glu1535Gly) c.3941A>G (p.Glu1314Gly) c.8456A>G (p.Glu2819Gly) | |
5 | g.13769003T>G | CA359201555 | DNAH5 | c.9854A>C (p.Glu3285Ala) c.9809A>C (p.Glu3270Ala) n.566A>C c.9962A>C (p.Glu3321Ala) c.8867A>C (p.Glu2956Ala) c.5051A>C (p.Glu1684Ala) c.4604A>C (p.Glu1535Ala) c.3941A>C (p.Glu1314Ala) c.8456A>C (p.Glu2819Ala) | |
5 | g.13769004C>A | CA359201562 | DNAH5 | c.9853G>T (p.Glu3285Ter) c.9808G>T (p.Glu3270Ter) n.565G>T c.9961G>T (p.Glu3321Ter) c.8866G>T (p.Glu2956Ter) c.5050G>T (p.Glu1684Ter) c.4603G>T (p.Glu1535Ter) c.3940G>T (p.Glu1314Ter) c.8455G>T (p.Glu2819Ter) | |
5 | g.13769004C>G | CA359201566 | DNAH5 | c.9853G>C (p.Glu3285Gln) c.9808G>C (p.Glu3270Gln) n.565G>C c.9961G>C (p.Glu3321Gln) c.8866G>C (p.Glu2956Gln) c.5050G>C (p.Glu1684Gln) c.4603G>C (p.Glu1535Gln) c.3940G>C (p.Glu1314Gln) c.8455G>C (p.Glu2819Gln) | |
5 | g.13769004C>T | CA359201568 | DNAH5 | c.9853G>A (p.Glu3285Lys) c.9808G>A (p.Glu3270Lys) n.565G>A c.9961G>A (p.Glu3321Lys) c.8866G>A (p.Glu2956Lys) c.5050G>A (p.Glu1684Lys) c.4603G>A (p.Glu1535Lys) c.3940G>A (p.Glu1314Lys) c.8455G>A (p.Glu2819Lys) | COSMIC |
5 | g.13769005C>A | CA443253709 | DNAH5 | c.9852G>T (p.Leu3284=) c.9807G>T (p.Leu3269=) n.564G>T c.9960G>T (p.Leu3320=) c.8865G>T (p.Leu2955=) c.5049G>T (p.Leu1683=) c.4602G>T (p.Leu1534=) c.3939G>T (p.Leu1313=) c.8454G>T (p.Leu2818=) | COSMIC |
5 | g.13769005C= | CA1528430345 | DNAH5 | c.9852G= (p.Leu3284=) c.9807G= (p.Leu3269=) n.564G= c.9960G= (p.Leu3320=) c.8865G= (p.Leu2955=) c.5049G= (p.Leu1683=) c.4602G= (p.Leu1534=) c.3939G= (p.Leu1313=) c.8454G= (p.Leu2818=) | |
5 | g.13769005C>G | CA443253710 | DNAH5 | c.9852G>C (p.Leu3284=) c.9807G>C (p.Leu3269=) n.564G>C c.9960G>C (p.Leu3320=) c.8865G>C (p.Leu2955=) c.5049G>C (p.Leu1683=) c.4602G>C (p.Leu1534=) c.3939G>C (p.Leu1313=) c.8454G>C (p.Leu2818=) | |
5 | g.13769005C>T | CA443253711 | DNAH5 | c.9852G>A (p.Leu3284=) c.9807G>A (p.Leu3269=) n.564G>A c.9960G>A (p.Leu3320=) c.8865G>A (p.Leu2955=) c.5049G>A (p.Leu1683=) c.4602G>A (p.Leu1534=) c.3939G>A (p.Leu1313=) c.8454G>A (p.Leu2818=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13769006A= | CA1528430346 | DNAH5 | c.9851T= (p.Leu3284=) c.9806T= (p.Leu3269=) n.563T= c.9959T= (p.Leu3320=) c.8864T= (p.Leu2955=) c.5048T= (p.Leu1683=) c.4601T= (p.Leu1534=) c.3938T= (p.Leu1313=) c.8453T= (p.Leu2818=) | |
5 | g.13769006A>C | CA359201571 | DNAH5 | c.9851T>G (p.Leu3284Arg) c.9806T>G (p.Leu3269Arg) n.563T>G c.9959T>G (p.Leu3320Arg) c.8864T>G (p.Leu2955Arg) c.5048T>G (p.Leu1683Arg) c.4601T>G (p.Leu1534Arg) c.3938T>G (p.Leu1313Arg) c.8453T>G (p.Leu2818Arg) | |
5 | g.13769006A>G | CA3202417 | DNAH5 | c.9851T>C (p.Leu3284Pro) c.9806T>C (p.Leu3269Pro) n.563T>C c.9959T>C (p.Leu3320Pro) c.8864T>C (p.Leu2955Pro) c.5048T>C (p.Leu1683Pro) c.4601T>C (p.Leu1534Pro) c.3938T>C (p.Leu1313Pro) c.8453T>C (p.Leu2818Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13769006A>T | CA359201573 | DNAH5 | c.9851T>A (p.Leu3284Gln) c.9806T>A (p.Leu3269Gln) n.563T>A c.9959T>A (p.Leu3320Gln) c.8864T>A (p.Leu2955Gln) c.5048T>A (p.Leu1683Gln) c.4601T>A (p.Leu1534Gln) c.3938T>A (p.Leu1313Gln) c.8453T>A (p.Leu2818Gln) | |
5 | g.13769007G>A | CA443253718 | DNAH5 | c.9850C>T (p.Leu3284=) c.9805C>T (p.Leu3269=) n.562C>T c.9958C>T (p.Leu3320=) c.8863C>T (p.Leu2955=) c.5047C>T (p.Leu1683=) c.4600C>T (p.Leu1534=) c.3937C>T (p.Leu1313=) c.8452C>T (p.Leu2818=) | |
5 | g.13769007G>C | CA359201576 | DNAH5 | c.9850C>G (p.Leu3284Val) c.9805C>G (p.Leu3269Val) n.562C>G c.9958C>G (p.Leu3320Val) c.8863C>G (p.Leu2955Val) c.5047C>G (p.Leu1683Val) c.4600C>G (p.Leu1534Val) c.3937C>G (p.Leu1313Val) c.8452C>G (p.Leu2818Val) | |
5 | g.13769007G= | CA1528430347 | DNAH5 | c.9850C= (p.Leu3284=) c.9805C= (p.Leu3269=) n.562C= c.9958C= (p.Leu3320=) c.8863C= (p.Leu2955=) c.5047C= (p.Leu1683=) c.4600C= (p.Leu1534=) c.3937C= (p.Leu1313=) c.8452C= (p.Leu2818=) | |
5 | g.13769007G>T | CA359201574 | DNAH5 | c.9850C>A (p.Leu3284Met) c.9805C>A (p.Leu3269Met) n.562C>A c.9958C>A (p.Leu3320Met) c.8863C>A (p.Leu2955Met) c.5047C>A (p.Leu1683Met) c.4600C>A (p.Leu1534Met) c.3937C>A (p.Leu1313Met) c.8452C>A (p.Leu2818Met) | ClinVar dbSNP gnomAD v4 |
5 | g.13769008T>A | CA359201579 | DNAH5 | c.9849A>T (p.Lys3283Asn) c.9804A>T (p.Lys3268Asn) n.561A>T c.9957A>T (p.Lys3319Asn) c.8862A>T (p.Lys2954Asn) c.5046A>T (p.Lys1682Asn) c.4599A>T (p.Lys1533Asn) c.3936A>T (p.Lys1312Asn) c.8451A>T (p.Lys2817Asn) | |
5 | g.13769008T>C | CA443253724 | DNAH5 | c.9849A>G (p.Lys3283=) c.9804A>G (p.Lys3268=) n.561A>G c.9957A>G (p.Lys3319=) c.8862A>G (p.Lys2954=) c.5046A>G (p.Lys1682=) c.4599A>G (p.Lys1533=) c.3936A>G (p.Lys1312=) c.8451A>G (p.Lys2817=) | ClinVar |
5 | g.13769008T>G | CA359201585 | DNAH5 | c.9849A>C (p.Lys3283Asn) c.9804A>C (p.Lys3268Asn) n.561A>C c.9957A>C (p.Lys3319Asn) c.8862A>C (p.Lys2954Asn) c.5046A>C (p.Lys1682Asn) c.4599A>C (p.Lys1533Asn) c.3936A>C (p.Lys1312Asn) c.8451A>C (p.Lys2817Asn) | |
5 | g.13769009T>A | CA359201588 | DNAH5 | c.9848A>T (p.Lys3283Ile) c.9803A>T (p.Lys3268Ile) n.560A>T c.9956A>T (p.Lys3319Ile) c.8861A>T (p.Lys2954Ile) c.5045A>T (p.Lys1682Ile) c.4598A>T (p.Lys1533Ile) c.3935A>T (p.Lys1312Ile) c.8450A>T (p.Lys2817Ile) | |
5 | g.13769009T>C | CA359201591 | DNAH5 | c.9848A>G (p.Lys3283Arg) c.9803A>G (p.Lys3268Arg) n.560A>G c.9956A>G (p.Lys3319Arg) c.8861A>G (p.Lys2954Arg) c.5045A>G (p.Lys1682Arg) c.4598A>G (p.Lys1533Arg) c.3935A>G (p.Lys1312Arg) c.8450A>G (p.Lys2817Arg) | |
5 | g.13769009T>G | CA359201596 | DNAH5 | c.9848A>C (p.Lys3283Thr) c.9803A>C (p.Lys3268Thr) n.560A>C c.9956A>C (p.Lys3319Thr) c.8861A>C (p.Lys2954Thr) c.5045A>C (p.Lys1682Thr) c.4598A>C (p.Lys1533Thr) c.3935A>C (p.Lys1312Thr) c.8450A>C (p.Lys2817Thr) | |
5 | g.13769010T>A | CA359201599 | DNAH5 | c.9847A>T (p.Lys3283Ter) c.9802A>T (p.Lys3268Ter) n.559A>T c.9955A>T (p.Lys3319Ter) c.8860A>T (p.Lys2954Ter) c.5044A>T (p.Lys1682Ter) c.4597A>T (p.Lys1533Ter) c.3934A>T (p.Lys1312Ter) c.8449A>T (p.Lys2817Ter) | |
5 | g.13769010T>C | CA359201603 | DNAH5 | c.9847A>G (p.Lys3283Glu) c.9802A>G (p.Lys3268Glu) n.559A>G c.9955A>G (p.Lys3319Glu) c.8860A>G (p.Lys2954Glu) c.5044A>G (p.Lys1682Glu) c.4597A>G (p.Lys1533Glu) c.3934A>G (p.Lys1312Glu) c.8449A>G (p.Lys2817Glu) | |
5 | g.13769010T>G | CA359201606 | DNAH5 | c.9847A>C (p.Lys3283Gln) c.9802A>C (p.Lys3268Gln) n.559A>C c.9955A>C (p.Lys3319Gln) c.8860A>C (p.Lys2954Gln) c.5044A>C (p.Lys1682Gln) c.4597A>C (p.Lys1533Gln) c.3934A>C (p.Lys1312Gln) c.8449A>C (p.Lys2817Gln) | |
5 | g.13769011T>A | CA359201612 | DNAH5 | c.9846A>T (p.Glu3282Asp) c.9801A>T (p.Glu3267Asp) n.558A>T c.9954A>T (p.Glu3318Asp) c.8859A>T (p.Glu2953Asp) c.5043A>T (p.Glu1681Asp) c.4596A>T (p.Glu1532Asp) c.3933A>T (p.Glu1311Asp) c.8448A>T (p.Glu2816Asp) | |
5 | g.13769011T>C | CA443253739 | DNAH5 | c.9846A>G (p.Glu3282=) c.9801A>G (p.Glu3267=) n.558A>G c.9954A>G (p.Glu3318=) c.8859A>G (p.Glu2953=) c.5043A>G (p.Glu1681=) c.4596A>G (p.Glu1532=) c.3933A>G (p.Glu1311=) c.8448A>G (p.Glu2816=) | gnomAD v4 |
5 | g.13769011T>G | CA359201616 | DNAH5 | c.9846A>C (p.Glu3282Asp) c.9801A>C (p.Glu3267Asp) n.558A>C c.9954A>C (p.Glu3318Asp) c.8859A>C (p.Glu2953Asp) c.5043A>C (p.Glu1681Asp) c.4596A>C (p.Glu1532Asp) c.3933A>C (p.Glu1311Asp) c.8448A>C (p.Glu2816Asp) | |
5 | g.13769012T>A | CA359201620 | DNAH5 | c.9845A>T (p.Glu3282Val) c.9800A>T (p.Glu3267Val) n.557A>T c.9953A>T (p.Glu3318Val) c.8858A>T (p.Glu2953Val) c.5042A>T (p.Glu1681Val) c.4595A>T (p.Glu1532Val) c.3932A>T (p.Glu1311Val) c.8447A>T (p.Glu2816Val) | |
5 | g.13769012T>C | CA359201625 | DNAH5 | c.9845A>G (p.Glu3282Gly) c.9800A>G (p.Glu3267Gly) n.557A>G c.9953A>G (p.Glu3318Gly) c.8858A>G (p.Glu2953Gly) c.5042A>G (p.Glu1681Gly) c.4595A>G (p.Glu1532Gly) c.3932A>G (p.Glu1311Gly) c.8447A>G (p.Glu2816Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13769012T>G | CA359201627 | DNAH5 | c.9845A>C (p.Glu3282Ala) c.9800A>C (p.Glu3267Ala) n.557A>C c.9953A>C (p.Glu3318Ala) c.8858A>C (p.Glu2953Ala) c.5042A>C (p.Glu1681Ala) c.4595A>C (p.Glu1532Ala) c.3932A>C (p.Glu1311Ala) c.8447A>C (p.Glu2816Ala) | |
5 | g.13769012T= | CA1528430348 | DNAH5 | c.9845A= (p.Glu3282=) c.9800A= (p.Glu3267=) n.557A= c.9953A= (p.Glu3318=) c.8858A= (p.Glu2953=) c.5042A= (p.Glu1681=) c.4595A= (p.Glu1532=) c.3932A= (p.Glu1311=) c.8447A= (p.Glu2816=) | |
5 | g.13769013C>A | CA359201640 | DNAH5 | c.9844G>T (p.Glu3282Ter) c.9799G>T (p.Glu3267Ter) n.556G>T c.9952G>T (p.Glu3318Ter) c.8857G>T (p.Glu2953Ter) c.5041G>T (p.Glu1681Ter) c.4594G>T (p.Glu1532Ter) c.3931G>T (p.Glu1311Ter) c.8446G>T (p.Glu2816Ter) | |
5 | g.13769013C>G | CA359201636 | DNAH5 | c.9844G>C (p.Glu3282Gln) c.9799G>C (p.Glu3267Gln) n.556G>C c.9952G>C (p.Glu3318Gln) c.8857G>C (p.Glu2953Gln) c.5041G>C (p.Glu1681Gln) c.4594G>C (p.Glu1532Gln) c.3931G>C (p.Glu1311Gln) c.8446G>C (p.Glu2816Gln) | |
5 | g.13769013C>T | CA359201630 | DNAH5 | c.9844G>A (p.Glu3282Lys) c.9799G>A (p.Glu3267Lys) n.556G>A c.9952G>A (p.Glu3318Lys) c.8857G>A (p.Glu2953Lys) c.5041G>A (p.Glu1681Lys) c.4594G>A (p.Glu1532Lys) c.3931G>A (p.Glu1311Lys) c.8446G>A (p.Glu2816Lys) | COSMIC |
5 | g.13769014T>A | CA359201655 | DNAH5 | c.9843A>T (p.Glu3281Asp) c.9798A>T (p.Glu3266Asp) n.555A>T c.9951A>T (p.Glu3317Asp) c.8856A>T (p.Glu2952Asp) c.5040A>T (p.Glu1680Asp) c.4593A>T (p.Glu1531Asp) c.3930A>T (p.Glu1310Asp) c.8445A>T (p.Glu2815Asp) | |
5 | g.13769014T>C | CA443253767 | DNAH5 | c.9843A>G (p.Glu3281=) c.9798A>G (p.Glu3266=) n.555A>G c.9951A>G (p.Glu3317=) c.8856A>G (p.Glu2952=) c.5040A>G (p.Glu1680=) c.4593A>G (p.Glu1531=) c.3930A>G (p.Glu1310=) c.8445A>G (p.Glu2815=) | |
5 | g.13769014T>G | CA359201663 | DNAH5 | c.9843A>C (p.Glu3281Asp) c.9798A>C (p.Glu3266Asp) n.555A>C c.9951A>C (p.Glu3317Asp) c.8856A>C (p.Glu2952Asp) c.5040A>C (p.Glu1680Asp) c.4593A>C (p.Glu1531Asp) c.3930A>C (p.Glu1310Asp) c.8445A>C (p.Glu2815Asp) | |
5 | g.13769015T>A | CA359201669 | DNAH5 | c.9842A>T (p.Glu3281Val) c.9797A>T (p.Glu3266Val) n.554A>T c.9950A>T (p.Glu3317Val) c.8855A>T (p.Glu2952Val) c.5039A>T (p.Glu1680Val) c.4592A>T (p.Glu1531Val) c.3929A>T (p.Glu1310Val) c.8444A>T (p.Glu2815Val) | |
5 | g.13769015T>C | CA359201671 | DNAH5 | c.9842A>G (p.Glu3281Gly) c.9797A>G (p.Glu3266Gly) n.554A>G c.9950A>G (p.Glu3317Gly) c.8855A>G (p.Glu2952Gly) c.5039A>G (p.Glu1680Gly) c.4592A>G (p.Glu1531Gly) c.3929A>G (p.Glu1310Gly) c.8444A>G (p.Glu2815Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13769015T>G | CA359201674 | DNAH5 | c.9842A>C (p.Glu3281Ala) c.9797A>C (p.Glu3266Ala) n.554A>C c.9950A>C (p.Glu3317Ala) c.8855A>C (p.Glu2952Ala) c.5039A>C (p.Glu1680Ala) c.4592A>C (p.Glu1531Ala) c.3929A>C (p.Glu1310Ala) c.8444A>C (p.Glu2815Ala) | |
5 | g.13769015T= | CA1528430349 | DNAH5 | c.9842A= (p.Glu3281=) c.9797A= (p.Glu3266=) n.554A= c.9950A= (p.Glu3317=) c.8855A= (p.Glu2952=) c.5039A= (p.Glu1680=) c.4592A= (p.Glu1531=) c.3929A= (p.Glu1310=) c.8444A= (p.Glu2815=) | |
5 | g.13769016C>A | CA359201679 | DNAH5 | c.9841G>T (p.Glu3281Ter) c.9796G>T (p.Glu3266Ter) n.553G>T c.9949G>T (p.Glu3317Ter) c.8854G>T (p.Glu2952Ter) c.5038G>T (p.Glu1680Ter) c.4591G>T (p.Glu1531Ter) c.3928G>T (p.Glu1310Ter) c.8443G>T (p.Glu2815Ter) | |
5 | g.13769016C= | CA1528430350 | DNAH5 | c.9841G= (p.Glu3281=) c.9796G= (p.Glu3266=) n.553G= c.9949G= (p.Glu3317=) c.8854G= (p.Glu2952=) c.5038G= (p.Glu1680=) c.4591G= (p.Glu1531=) c.3928G= (p.Glu1310=) c.8443G= (p.Glu2815=) | |
5 | g.13769016C>G | CA359201681 | DNAH5 | c.9841G>C (p.Glu3281Gln) c.9796G>C (p.Glu3266Gln) n.553G>C c.9949G>C (p.Glu3317Gln) c.8854G>C (p.Glu2952Gln) c.5038G>C (p.Glu1680Gln) c.4591G>C (p.Glu1531Gln) c.3928G>C (p.Glu1310Gln) c.8443G>C (p.Glu2815Gln) | |
5 | g.13769016C>T | CA359201685 | DNAH5 | c.9841G>A (p.Glu3281Lys) c.9796G>A (p.Glu3266Lys) n.553G>A c.9949G>A (p.Glu3317Lys) c.8854G>A (p.Glu2952Lys) c.5038G>A (p.Glu1680Lys) c.4591G>A (p.Glu1531Lys) c.3928G>A (p.Glu1310Lys) c.8443G>A (p.Glu2815Lys) | dbSNP COSMIC |
5 | g.13769017A= | CA1528430351 | DNAH5 | c.9840T= (p.Ala3280=) c.9795T= (p.Ala3265=) n.552T= c.9948T= (p.Ala3316=) c.8853T= (p.Ala2951=) c.5037T= (p.Ala1679=) c.4590T= (p.Ala1530=) c.3927T= (p.Ala1309=) c.8442T= (p.Ala2814=) | |
5 | g.13769017A>C | CA443253776 | DNAH5 | c.9840T>G (p.Ala3280=) c.9795T>G (p.Ala3265=) n.552T>G c.9948T>G (p.Ala3316=) c.8853T>G (p.Ala2951=) c.5037T>G (p.Ala1679=) c.4590T>G (p.Ala1530=) c.3927T>G (p.Ala1309=) c.8442T>G (p.Ala2814=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13769017A>G | CA443253778 | DNAH5 | c.9840T>C (p.Ala3280=) c.9795T>C (p.Ala3265=) n.552T>C c.9948T>C (p.Ala3316=) c.8853T>C (p.Ala2951=) c.5037T>C (p.Ala1679=) c.4590T>C (p.Ala1530=) c.3927T>C (p.Ala1309=) c.8442T>C (p.Ala2814=) | ClinVar dbSNP |
5 | g.13769017A>T | CA443253779 | DNAH5 | c.9840T>A (p.Ala3280=) c.9795T>A (p.Ala3265=) n.552T>A c.9948T>A (p.Ala3316=) c.8853T>A (p.Ala2951=) c.5037T>A (p.Ala1679=) c.4590T>A (p.Ala1530=) c.3927T>A (p.Ala1309=) c.8442T>A (p.Ala2814=) | |
5 | g.13769018G>A | CA359201690 | DNAH5 | c.9839C>T (p.Ala3280Val) c.9794C>T (p.Ala3265Val) n.551C>T c.9947C>T (p.Ala3316Val) c.8852C>T (p.Ala2951Val) c.5036C>T (p.Ala1679Val) c.4589C>T (p.Ala1530Val) c.3926C>T (p.Ala1309Val) c.8441C>T (p.Ala2814Val) | |
5 | g.13769018G>C | CA359201692 | DNAH5 | c.9839C>G (p.Ala3280Gly) c.9794C>G (p.Ala3265Gly) n.551C>G c.9947C>G (p.Ala3316Gly) c.8852C>G (p.Ala2951Gly) c.5036C>G (p.Ala1679Gly) c.4589C>G (p.Ala1530Gly) c.3926C>G (p.Ala1309Gly) c.8441C>G (p.Ala2814Gly) | |
5 | g.13769018G>T | CA359201694 | DNAH5 | c.9839C>A (p.Ala3280Asp) c.9794C>A (p.Ala3265Asp) n.551C>A c.9947C>A (p.Ala3316Asp) c.8852C>A (p.Ala2951Asp) c.5036C>A (p.Ala1679Asp) c.4589C>A (p.Ala1530Asp) c.3926C>A (p.Ala1309Asp) c.8441C>A (p.Ala2814Asp) | |
5 | g.13769019C>A | CA3202418 | DNAH5 | c.9838G>T (p.Ala3280Ser) c.9793G>T (p.Ala3265Ser) n.550G>T c.9946G>T (p.Ala3316Ser) c.8851G>T (p.Ala2951Ser) c.5035G>T (p.Ala1679Ser) c.4588G>T (p.Ala1530Ser) c.3925G>T (p.Ala1309Ser) c.8440G>T (p.Ala2814Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13769019C= | CA1528430352 | DNAH5 | c.9838G= (p.Ala3280=) c.9793G= (p.Ala3265=) n.550G= c.9946G= (p.Ala3316=) c.8851G= (p.Ala2951=) c.5035G= (p.Ala1679=) c.4588G= (p.Ala1530=) c.3925G= (p.Ala1309=) c.8440G= (p.Ala2814=) | |
5 | g.13769019C>G | CA359201699 | DNAH5 | c.9838G>C (p.Ala3280Pro) c.9793G>C (p.Ala3265Pro) n.550G>C c.9946G>C (p.Ala3316Pro) c.8851G>C (p.Ala2951Pro) c.5035G>C (p.Ala1679Pro) c.4588G>C (p.Ala1530Pro) c.3925G>C (p.Ala1309Pro) c.8440G>C (p.Ala2814Pro) | |
5 | g.13769019C>T | CA359201700 | DNAH5 | c.9838G>A (p.Ala3280Thr) c.9793G>A (p.Ala3265Thr) n.550G>A c.9946G>A (p.Ala3316Thr) c.8851G>A (p.Ala2951Thr) c.5035G>A (p.Ala1679Thr) c.4588G>A (p.Ala1530Thr) c.3925G>A (p.Ala1309Thr) c.8440G>A (p.Ala2814Thr) | gnomAD v4 |
5 | g.13769020A= | CA1528430353 | DNAH5 | c.9837T= (p.Ile3279=) c.9792T= (p.Ile3264=) n.549T= c.9945T= (p.Ile3315=) c.8850T= (p.Ile2950=) c.5034T= (p.Ile1678=) c.4587T= (p.Ile1529=) c.3924T= (p.Ile1308=) c.8439T= (p.Ile2813=) | |
5 | g.13769020A>C | CA359201701 | DNAH5 | c.9837T>G (p.Ile3279Met) c.9792T>G (p.Ile3264Met) n.549T>G c.9945T>G (p.Ile3315Met) c.8850T>G (p.Ile2950Met) c.5034T>G (p.Ile1678Met) c.4587T>G (p.Ile1529Met) c.3924T>G (p.Ile1308Met) c.8439T>G (p.Ile2813Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13769020A>G | CA113930782 | DNAH5 | c.9837T>C (p.Ile3279=) c.9792T>C (p.Ile3264=) n.549T>C c.9945T>C (p.Ile3315=) c.8850T>C (p.Ile2950=) c.5034T>C (p.Ile1678=) c.4587T>C (p.Ile1529=) c.3924T>C (p.Ile1308=) c.8439T>C (p.Ile2813=) | dbSNP |
5 | g.13769020A>T | CA443253781 | DNAH5 | c.9837T>A (p.Ile3279=) c.9792T>A (p.Ile3264=) n.549T>A c.9945T>A (p.Ile3315=) c.8850T>A (p.Ile2950=) c.5034T>A (p.Ile1678=) c.4587T>A (p.Ile1529=) c.3924T>A (p.Ile1308=) c.8439T>A (p.Ile2813=) | |
5 | g.13769021A= | CA1528430354 | DNAH5 | c.9836T= (p.Ile3279=) c.9791T= (p.Ile3264=) n.548T= c.9944T= (p.Ile3315=) c.8849T= (p.Ile2950=) c.5033T= (p.Ile1678=) c.4586T= (p.Ile1529=) c.3923T= (p.Ile1308=) c.8438T= (p.Ile2813=) | |
5 | g.13769021A>C | CA359201704 | DNAH5 | c.9836T>G (p.Ile3279Ser) c.9791T>G (p.Ile3264Ser) n.548T>G c.9944T>G (p.Ile3315Ser) c.8849T>G (p.Ile2950Ser) c.5033T>G (p.Ile1678Ser) c.4586T>G (p.Ile1529Ser) c.3923T>G (p.Ile1308Ser) c.8438T>G (p.Ile2813Ser) | |
5 | g.13769021A>G | CA3202419 | DNAH5 | c.9836T>C (p.Ile3279Thr) c.9791T>C (p.Ile3264Thr) n.548T>C c.9944T>C (p.Ile3315Thr) c.8849T>C (p.Ile2950Thr) c.5033T>C (p.Ile1678Thr) c.4586T>C (p.Ile1529Thr) c.3923T>C (p.Ile1308Thr) c.8438T>C (p.Ile2813Thr) | dbSNP ExAC gnomAD v2 |
5 | g.13769021A>T | CA359201710 | DNAH5 | c.9836T>A (p.Ile3279Asn) c.9791T>A (p.Ile3264Asn) n.548T>A c.9944T>A (p.Ile3315Asn) c.8849T>A (p.Ile2950Asn) c.5033T>A (p.Ile1678Asn) c.4586T>A (p.Ile1529Asn) c.3923T>A (p.Ile1308Asn) c.8438T>A (p.Ile2813Asn) | |
5 | g.13769022T>A | CA359201719 | DNAH5 | c.9835A>T (p.Ile3279Phe) c.9790A>T (p.Ile3264Phe) n.547A>T c.9943A>T (p.Ile3315Phe) c.8848A>T (p.Ile2950Phe) c.5032A>T (p.Ile1678Phe) c.4585A>T (p.Ile1529Phe) c.3922A>T (p.Ile1308Phe) c.8437A>T (p.Ile2813Phe) | |
5 | g.13769022T>C | CA3202420 | DNAH5 | c.9835A>G (p.Ile3279Val) c.9790A>G (p.Ile3264Val) n.547A>G c.9943A>G (p.Ile3315Val) c.8848A>G (p.Ile2950Val) c.5032A>G (p.Ile1678Val) c.4585A>G (p.Ile1529Val) c.3922A>G (p.Ile1308Val) c.8437A>G (p.Ile2813Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13769022T>G | CA359201722 | DNAH5 | c.9835A>C (p.Ile3279Leu) c.9790A>C (p.Ile3264Leu) n.547A>C c.9943A>C (p.Ile3315Leu) c.8848A>C (p.Ile2950Leu) c.5032A>C (p.Ile1678Leu) c.4585A>C (p.Ile1529Leu) c.3922A>C (p.Ile1308Leu) c.8437A>C (p.Ile2813Leu) | |
5 | g.13769022T= | CA1528430355 | DNAH5 | c.9835A= (p.Ile3279=) c.9790A= (p.Ile3264=) n.547A= c.9943A= (p.Ile3315=) c.8848A= (p.Ile2950=) c.5032A= (p.Ile1678=) c.4585A= (p.Ile1529=) c.3922A= (p.Ile1308=) c.8437A= (p.Ile2813=) | |
5 | g.13769023G>A | CA443253783 | DNAH5 | c.9834C>T (p.Ala3278=) c.9789C>T (p.Ala3263=) n.546C>T c.9942C>T (p.Ala3314=) c.8847C>T (p.Ala2949=) c.5031C>T (p.Ala1677=) c.4584C>T (p.Ala1528=) c.3921C>T (p.Ala1307=) c.8436C>T (p.Ala2812=) | |
5 | g.13769023G>C | CA443253784 | DNAH5 | c.9834C>G (p.Ala3278=) c.9789C>G (p.Ala3263=) n.546C>G c.9942C>G (p.Ala3314=) c.8847C>G (p.Ala2949=) c.5031C>G (p.Ala1677=) c.4584C>G (p.Ala1528=) c.3921C>G (p.Ala1307=) c.8436C>G (p.Ala2812=) | |
5 | g.13769023G>T | CA443253785 | DNAH5 | c.9834C>A (p.Ala3278=) c.9789C>A (p.Ala3263=) n.546C>A c.9942C>A (p.Ala3314=) c.8847C>A (p.Ala2949=) c.5031C>A (p.Ala1677=) c.4584C>A (p.Ala1528=) c.3921C>A (p.Ala1307=) c.8436C>A (p.Ala2812=) | |
5 | g.13769024G>A | CA359201728 | DNAH5 | c.9833C>T (p.Ala3278Val) c.9788C>T (p.Ala3263Val) n.545C>T c.9941C>T (p.Ala3314Val) c.8846C>T (p.Ala2949Val) c.5030C>T (p.Ala1677Val) c.4583C>T (p.Ala1528Val) c.3920C>T (p.Ala1307Val) c.8435C>T (p.Ala2812Val) | COSMIC |
5 | g.13769024G>C | CA359201730 | DNAH5 | c.9833C>G (p.Ala3278Gly) c.9788C>G (p.Ala3263Gly) n.545C>G c.9941C>G (p.Ala3314Gly) c.8846C>G (p.Ala2949Gly) c.5030C>G (p.Ala1677Gly) c.4583C>G (p.Ala1528Gly) c.3920C>G (p.Ala1307Gly) c.8435C>G (p.Ala2812Gly) | |
5 | g.13769024G>T | CA359201746 | DNAH5 | c.9833C>A (p.Ala3278Asp) c.9788C>A (p.Ala3263Asp) n.545C>A c.9941C>A (p.Ala3314Asp) c.8846C>A (p.Ala2949Asp) c.5030C>A (p.Ala1677Asp) c.4583C>A (p.Ala1528Asp) c.3920C>A (p.Ala1307Asp) c.8435C>A (p.Ala2812Asp) | |
5 | g.13769025C>A | CA359201748 | DNAH5 | c.9832G>T (p.Ala3278Ser) c.9787G>T (p.Ala3263Ser) n.544G>T c.9940G>T (p.Ala3314Ser) c.8845G>T (p.Ala2949Ser) c.5029G>T (p.Ala1677Ser) c.4582G>T (p.Ala1528Ser) c.3919G>T (p.Ala1307Ser) c.8434G>T (p.Ala2812Ser) | |
5 | g.13769025C>G | CA359201750 | DNAH5 | c.9832G>C (p.Ala3278Pro) c.9787G>C (p.Ala3263Pro) n.544G>C c.9940G>C (p.Ala3314Pro) c.8845G>C (p.Ala2949Pro) c.5029G>C (p.Ala1677Pro) c.4582G>C (p.Ala1528Pro) c.3919G>C (p.Ala1307Pro) c.8434G>C (p.Ala2812Pro) | |
5 | g.13769025C>T | CA359201758 | DNAH5 | c.9832G>A (p.Ala3278Thr) c.9787G>A (p.Ala3263Thr) n.544G>A c.9940G>A (p.Ala3314Thr) c.8845G>A (p.Ala2949Thr) c.5029G>A (p.Ala1677Thr) c.4582G>A (p.Ala1528Thr) c.3919G>A (p.Ala1307Thr) c.8434G>A (p.Ala2812Thr) | COSMIC |
5 | g.13769026T>A | CA359201761 | DNAH5 | c.9831A>T (p.Lys3277Asn) c.9786A>T (p.Lys3262Asn) n.543A>T c.9939A>T (p.Lys3313Asn) c.8844A>T (p.Lys2948Asn) c.5028A>T (p.Lys1676Asn) c.4581A>T (p.Lys1527Asn) c.3918A>T (p.Lys1306Asn) c.8433A>T (p.Lys2811Asn) | |
5 | g.13769026T>C | CA443253787 | DNAH5 | c.9831A>G (p.Lys3277=) c.9786A>G (p.Lys3262=) n.543A>G c.9939A>G (p.Lys3313=) c.8844A>G (p.Lys2948=) c.5028A>G (p.Lys1676=) c.4581A>G (p.Lys1527=) c.3918A>G (p.Lys1306=) c.8433A>G (p.Lys2811=) | ClinVar |
5 | g.13769026T>G | CA359201764 | DNAH5 | c.9831A>C (p.Lys3277Asn) c.9786A>C (p.Lys3262Asn) n.543A>C c.9939A>C (p.Lys3313Asn) c.8844A>C (p.Lys2948Asn) c.5028A>C (p.Lys1676Asn) c.4581A>C (p.Lys1527Asn) c.3918A>C (p.Lys1306Asn) c.8433A>C (p.Lys2811Asn) | |
5 | g.13769027T>A | CA359201767 | DNAH5 | c.9830A>T (p.Lys3277Ile) c.9785A>T (p.Lys3262Ile) n.542A>T c.9938A>T (p.Lys3313Ile) c.8843A>T (p.Lys2948Ile) c.5027A>T (p.Lys1676Ile) c.4580A>T (p.Lys1527Ile) c.3917A>T (p.Lys1306Ile) c.8432A>T (p.Lys2811Ile) | |
5 | g.13769027T>C | CA359201770 | DNAH5 | c.9830A>G (p.Lys3277Arg) c.9785A>G (p.Lys3262Arg) n.542A>G c.9938A>G (p.Lys3313Arg) c.8843A>G (p.Lys2948Arg) c.5027A>G (p.Lys1676Arg) c.4580A>G (p.Lys1527Arg) c.3917A>G (p.Lys1306Arg) c.8432A>G (p.Lys2811Arg) | |
5 | g.13769027T>G | CA359201766 | DNAH5 | c.9830A>C (p.Lys3277Thr) c.9785A>C (p.Lys3262Thr) n.542A>C c.9938A>C (p.Lys3313Thr) c.8843A>C (p.Lys2948Thr) c.5027A>C (p.Lys1676Thr) c.4580A>C (p.Lys1527Thr) c.3917A>C (p.Lys1306Thr) c.8432A>C (p.Lys2811Thr) | |
5 | g.13769028T>A | CA359201772 | DNAH5 | c.9829A>T (p.Lys3277Ter) c.9784A>T (p.Lys3262Ter) n.541A>T c.9937A>T (p.Lys3313Ter) c.8842A>T (p.Lys2948Ter) c.5026A>T (p.Lys1676Ter) c.4579A>T (p.Lys1527Ter) c.3916A>T (p.Lys1306Ter) c.8431A>T (p.Lys2811Ter) | |
5 | g.13769028T>C | CA359201774 | DNAH5 | c.9829A>G (p.Lys3277Glu) c.9784A>G (p.Lys3262Glu) n.541A>G c.9937A>G (p.Lys3313Glu) c.8842A>G (p.Lys2948Glu) c.5026A>G (p.Lys1676Glu) c.4579A>G (p.Lys1527Glu) c.3916A>G (p.Lys1306Glu) c.8431A>G (p.Lys2811Glu) | |
5 | g.13769028T>G | CA359201775 | DNAH5 | c.9829A>C (p.Lys3277Gln) c.9784A>C (p.Lys3262Gln) n.541A>C c.9937A>C (p.Lys3313Gln) c.8842A>C (p.Lys2948Gln) c.5026A>C (p.Lys1676Gln) c.4579A>C (p.Lys1527Gln) c.3916A>C (p.Lys1306Gln) c.8431A>C (p.Lys2811Gln) | gnomAD v4 |
5 | g.13769029G>A | CA443253789 | DNAH5 | c.9828C>T (p.Asp3276=) c.9783C>T (p.Asp3261=) n.540C>T c.9936C>T (p.Asp3312=) c.8841C>T (p.Asp2947=) c.5025C>T (p.Asp1675=) c.4578C>T (p.Asp1526=) c.3915C>T (p.Asp1305=) c.8430C>T (p.Asp2810=) | |
5 | g.13769029G>C | CA359201780 | DNAH5 | c.9828C>G (p.Asp3276Glu) c.9783C>G (p.Asp3261Glu) n.540C>G c.9936C>G (p.Asp3312Glu) c.8841C>G (p.Asp2947Glu) c.5025C>G (p.Asp1675Glu) c.4578C>G (p.Asp1526Glu) c.3915C>G (p.Asp1305Glu) c.8430C>G (p.Asp2810Glu) | |
5 | g.13769029G>T | CA359201781 | DNAH5 | c.9828C>A (p.Asp3276Glu) c.9783C>A (p.Asp3261Glu) n.540C>A c.9936C>A (p.Asp3312Glu) c.8841C>A (p.Asp2947Glu) c.5025C>A (p.Asp1675Glu) c.4578C>A (p.Asp1526Glu) c.3915C>A (p.Asp1305Glu) c.8430C>A (p.Asp2810Glu) | |
5 | g.13769030T>A | CA359201785 | DNAH5 | c.9827A>T (p.Asp3276Val) c.9782A>T (p.Asp3261Val) n.539A>T c.9935A>T (p.Asp3312Val) c.8840A>T (p.Asp2947Val) c.5024A>T (p.Asp1675Val) c.4577A>T (p.Asp1526Val) c.3914A>T (p.Asp1305Val) c.8429A>T (p.Asp2810Val) | |
5 | g.13769030T>C | CA359201787 | DNAH5 | c.9827A>G (p.Asp3276Gly) c.9782A>G (p.Asp3261Gly) n.539A>G c.9935A>G (p.Asp3312Gly) c.8840A>G (p.Asp2947Gly) c.5024A>G (p.Asp1675Gly) c.4577A>G (p.Asp1526Gly) c.3914A>G (p.Asp1305Gly) c.8429A>G (p.Asp2810Gly) | |
5 | g.13769030T>G | CA359201791 | DNAH5 | c.9827A>C (p.Asp3276Ala) c.9782A>C (p.Asp3261Ala) n.539A>C c.9935A>C (p.Asp3312Ala) c.8840A>C (p.Asp2947Ala) c.5024A>C (p.Asp1675Ala) c.4577A>C (p.Asp1526Ala) c.3914A>C (p.Asp1305Ala) c.8429A>C (p.Asp2810Ala) | |
5 | g.13769031C>A | CA359201794 | DNAH5 | c.9826G>T (p.Asp3276Tyr) c.9781G>T (p.Asp3261Tyr) n.538G>T c.9934G>T (p.Asp3312Tyr) c.8839G>T (p.Asp2947Tyr) c.5023G>T (p.Asp1675Tyr) c.4576G>T (p.Asp1526Tyr) c.3913G>T (p.Asp1305Tyr) c.8428G>T (p.Asp2810Tyr) | |
5 | g.13769031C>G | CA359201797 | DNAH5 | c.9826G>C (p.Asp3276His) c.9781G>C (p.Asp3261His) n.538G>C c.9934G>C (p.Asp3312His) c.8839G>C (p.Asp2947His) c.5023G>C (p.Asp1675His) c.4576G>C (p.Asp1526His) c.3913G>C (p.Asp1305His) c.8428G>C (p.Asp2810His) | |
5 | g.13769031C>T | CA359201795 | DNAH5 | c.9826G>A (p.Asp3276Asn) c.9781G>A (p.Asp3261Asn) n.538G>A c.9934G>A (p.Asp3312Asn) c.8839G>A (p.Asp2947Asn) c.5023G>A (p.Asp1675Asn) c.4576G>A (p.Asp1526Asn) c.3913G>A (p.Asp1305Asn) c.8428G>A (p.Asp2810Asn) | |
5 | g.13769032T>A | CA359201799 | DNAH5 | c.9825A>T (p.Lys3275Asn) c.9780A>T (p.Lys3260Asn) n.537A>T c.9933A>T (p.Lys3311Asn) c.8838A>T (p.Lys2946Asn) c.5022A>T (p.Lys1674Asn) c.4575A>T (p.Lys1525Asn) c.3912A>T (p.Lys1304Asn) c.8427A>T (p.Lys2809Asn) | |
5 | g.13769032T>C | CA443253795 | DNAH5 | c.9825A>G (p.Lys3275=) c.9780A>G (p.Lys3260=) n.537A>G c.9933A>G (p.Lys3311=) c.8838A>G (p.Lys2946=) c.5022A>G (p.Lys1674=) c.4575A>G (p.Lys1525=) c.3912A>G (p.Lys1304=) c.8427A>G (p.Lys2809=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13769032T>G | CA359201803 | DNAH5 | c.9825A>C (p.Lys3275Asn) c.9780A>C (p.Lys3260Asn) n.537A>C c.9933A>C (p.Lys3311Asn) c.8838A>C (p.Lys2946Asn) c.5022A>C (p.Lys1674Asn) c.4575A>C (p.Lys1525Asn) c.3912A>C (p.Lys1304Asn) c.8427A>C (p.Lys2809Asn) | |
5 | g.13769032T= | CA1528430356 | DNAH5 | c.9825A= (p.Lys3275=) c.9780A= (p.Lys3260=) n.537A= c.9933A= (p.Lys3311=) c.8838A= (p.Lys2946=) c.5022A= (p.Lys1674=) c.4575A= (p.Lys1525=) c.3912A= (p.Lys1304=) c.8427A= (p.Lys2809=) |