Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13752085G>T | CA2673270301 | DNAH5 | c.11028+49C>A (n.11028+49C>A) c.10983+49C>A (n.10983+49C>A) c.11136+49C>A (n.11136+49C>A) c.10041+49C>A (n.10041+49C>A) c.6225+49C>A (n.6225+49C>A) c.5778+49C>A (n.5778+49C>A) c.5115+49C>A (n.5115+49C>A) c.9630+49C>A (n.9630+49C>A) | gnomAD v4 |
5 | g.13752086del | CA2578269751 | DNAH5 | c.11028+49del (n.11028+49del) c.10983+49del (n.10983+49del) c.11136+49del (n.11136+49del) c.10041+49del (n.10041+49del) c.6225+49del (n.6225+49del) c.5778+49del (n.5778+49del) c.5115+49del (n.5115+49del) c.9630+49del (n.9630+49del) | gnomAD v4 |
5 | g.13752086G>A | CA2673270302 | DNAH5 | c.11028+48C>T (n.11028+48C>T) c.10983+48C>T (n.10983+48C>T) c.11136+48C>T (n.11136+48C>T) c.10041+48C>T (n.10041+48C>T) c.6225+48C>T (n.6225+48C>T) c.5778+48C>T (n.5778+48C>T) c.5115+48C>T (n.5115+48C>T) c.9630+48C>T (n.9630+48C>T) | gnomAD v4 |
5 | g.13752086G>T | CA2673270303 | DNAH5 | c.11028+48C>A (n.11028+48C>A) c.10983+48C>A (n.10983+48C>A) c.11136+48C>A (n.11136+48C>A) c.10041+48C>A (n.10041+48C>A) c.6225+48C>A (n.6225+48C>A) c.5778+48C>A (n.5778+48C>A) c.5115+48C>A (n.5115+48C>A) c.9630+48C>A (n.9630+48C>A) | gnomAD v4 |
5 | g.13752087C>T | CA2578269752 | DNAH5 | c.11028+47G>A (n.11028+47G>A) c.10983+47G>A (n.10983+47G>A) c.11136+47G>A (n.11136+47G>A) c.10041+47G>A (n.10041+47G>A) c.6225+47G>A (n.6225+47G>A) c.5778+47G>A (n.5778+47G>A) c.5115+47G>A (n.5115+47G>A) c.9630+47G>A (n.9630+47G>A) | |
5 | g.13752091A>G | CA2578269753 | DNAH5 | c.11028+43T>C (n.11028+43T>C) c.10983+43T>C (n.10983+43T>C) c.11136+43T>C (n.11136+43T>C) c.10041+43T>C (n.10041+43T>C) c.6225+43T>C (n.6225+43T>C) c.5778+43T>C (n.5778+43T>C) c.5115+43T>C (n.5115+43T>C) c.9630+43T>C (n.9630+43T>C) | |
5 | g.13752092T>C | CA3202076 | DNAH5 | c.11028+42A>G (n.11028+42A>G) c.10983+42A>G (n.10983+42A>G) c.11136+42A>G (n.11136+42A>G) c.10041+42A>G (n.10041+42A>G) c.6225+42A>G (n.6225+42A>G) c.5778+42A>G (n.5778+42A>G) c.5115+42A>G (n.5115+42A>G) c.9630+42A>G (n.9630+42A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752092T= | CA1528422885 | DNAH5 | c.11028+42A= (n.11028+42A=) c.10983+42A= (n.10983+42A=) c.11136+42A= (n.11136+42A=) c.10041+42A= (n.10041+42A=) c.6225+42A= (n.6225+42A=) c.5778+42A= (n.5778+42A=) c.5115+42A= (n.5115+42A=) c.9630+42A= (n.9630+42A=) | |
5 | g.13752093G>A | CA2673270304 | DNAH5 | c.11028+41C>T (n.11028+41C>T) c.10983+41C>T (n.10983+41C>T) c.11136+41C>T (n.11136+41C>T) c.10041+41C>T (n.10041+41C>T) c.6225+41C>T (n.6225+41C>T) c.5778+41C>T (n.5778+41C>T) c.5115+41C>T (n.5115+41C>T) c.9630+41C>T (n.9630+41C>T) | gnomAD v4 |
5 | g.13752093G>T | CA2673270305 | DNAH5 | c.11028+41C>A (n.11028+41C>A) c.10983+41C>A (n.10983+41C>A) c.11136+41C>A (n.11136+41C>A) c.10041+41C>A (n.10041+41C>A) c.6225+41C>A (n.6225+41C>A) c.5778+41C>A (n.5778+41C>A) c.5115+41C>A (n.5115+41C>A) c.9630+41C>A (n.9630+41C>A) | gnomAD v4 |
5 | g.13752095T>C | CA1528422887 | DNAH5 | c.11028+39A>G (n.11028+39A>G) c.10983+39A>G (n.10983+39A>G) c.11136+39A>G (n.11136+39A>G) c.10041+39A>G (n.10041+39A>G) c.6225+39A>G (n.6225+39A>G) c.5778+39A>G (n.5778+39A>G) c.5115+39A>G (n.5115+39A>G) c.9630+39A>G (n.9630+39A>G) | dbSNP gnomAD v4 |
5 | g.13752095T= | CA1528422886 | DNAH5 | c.11028+39A= (n.11028+39A=) c.10983+39A= (n.10983+39A=) c.11136+39A= (n.11136+39A=) c.10041+39A= (n.10041+39A=) c.6225+39A= (n.6225+39A=) c.5778+39A= (n.5778+39A=) c.5115+39A= (n.5115+39A=) c.9630+39A= (n.9630+39A=) | |
5 | g.13752098T>G | CA3202077 | DNAH5 | c.11028+36A>C (n.11028+36A>C) c.10983+36A>C (n.10983+36A>C) c.11136+36A>C (n.11136+36A>C) c.10041+36A>C (n.10041+36A>C) c.6225+36A>C (n.6225+36A>C) c.5778+36A>C (n.5778+36A>C) c.5115+36A>C (n.5115+36A>C) c.9630+36A>C (n.9630+36A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752098T= | CA1528422888 | DNAH5 | c.11028+36A= (n.11028+36A=) c.10983+36A= (n.10983+36A=) c.11136+36A= (n.11136+36A=) c.10041+36A= (n.10041+36A=) c.6225+36A= (n.6225+36A=) c.5778+36A= (n.5778+36A=) c.5115+36A= (n.5115+36A=) c.9630+36A= (n.9630+36A=) | |
5 | g.13752100G>A | CA2578269754 | DNAH5 | c.11028+34C>T (n.11028+34C>T) c.10983+34C>T (n.10983+34C>T) c.11136+34C>T (n.11136+34C>T) c.10041+34C>T (n.10041+34C>T) c.6225+34C>T (n.6225+34C>T) c.5778+34C>T (n.5778+34C>T) c.5115+34C>T (n.5115+34C>T) c.9630+34C>T (n.9630+34C>T) | gnomAD v4 |
5 | g.13752100G>T | CA2673270306 | DNAH5 | c.11028+34C>A (n.11028+34C>A) c.10983+34C>A (n.10983+34C>A) c.11136+34C>A (n.11136+34C>A) c.10041+34C>A (n.10041+34C>A) c.6225+34C>A (n.6225+34C>A) c.5778+34C>A (n.5778+34C>A) c.5115+34C>A (n.5115+34C>A) c.9630+34C>A (n.9630+34C>A) | gnomAD v4 |
5 | g.13752101T>C | CA3202078 | DNAH5 | c.11028+33A>G (n.11028+33A>G) c.10983+33A>G (n.10983+33A>G) c.11136+33A>G (n.11136+33A>G) c.10041+33A>G (n.10041+33A>G) c.6225+33A>G (n.6225+33A>G) c.5778+33A>G (n.5778+33A>G) c.5115+33A>G (n.5115+33A>G) c.9630+33A>G (n.9630+33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752101T= | CA1528422889 | DNAH5 | c.11028+33A= (n.11028+33A=) c.10983+33A= (n.10983+33A=) c.11136+33A= (n.11136+33A=) c.10041+33A= (n.10041+33A=) c.6225+33A= (n.6225+33A=) c.5778+33A= (n.5778+33A=) c.5115+33A= (n.5115+33A=) c.9630+33A= (n.9630+33A=) | |
5 | g.13752104T= | CA1528422890 | DNAH5 | c.11028+30A= (n.11028+30A=) c.10983+30A= (n.10983+30A=) c.11136+30A= (n.11136+30A=) c.10041+30A= (n.10041+30A=) c.6225+30A= (n.6225+30A=) c.5778+30A= (n.5778+30A=) c.5115+30A= (n.5115+30A=) c.9630+30A= (n.9630+30A=) | |
5 | g.13752105G>A | CA2842270543 | DNAH5 | c.11028+29C>T (n.11028+29C>T) c.10983+29C>T (n.10983+29C>T) c.11136+29C>T (n.11136+29C>T) c.10041+29C>T (n.10041+29C>T) c.6225+29C>T (n.6225+29C>T) c.5778+29C>T (n.5778+29C>T) c.5115+29C>T (n.5115+29C>T) c.9630+29C>T (n.9630+29C>T) | |
5 | g.13752105G>C | CA1528422893 | DNAH5 | c.11028+29C>G (n.11028+29C>G) c.10983+29C>G (n.10983+29C>G) c.11136+29C>G (n.11136+29C>G) c.10041+29C>G (n.10041+29C>G) c.6225+29C>G (n.6225+29C>G) c.5778+29C>G (n.5778+29C>G) c.5115+29C>G (n.5115+29C>G) c.9630+29C>G (n.9630+29C>G) | dbSNP gnomAD v4 |
5 | g.13752105G= | CA1528422892 | DNAH5 | c.11028+29C= (n.11028+29C=) c.10983+29C= (n.10983+29C=) c.11136+29C= (n.11136+29C=) c.10041+29C= (n.10041+29C=) c.6225+29C= (n.6225+29C=) c.5778+29C= (n.5778+29C=) c.5115+29C= (n.5115+29C=) c.9630+29C= (n.9630+29C=) | |
5 | g.13752106_13752122dup | CA1528422891 | DNAH5 | c.11028+13_11028+29dup (n.11028+13_11028+29dup) c.10983+13_10983+29dup (n.10983+13_10983+29dup) c.11136+13_11136+29dup (n.11136+13_11136+29dup) c.10041+13_10041+29dup (n.10041+13_10041+29dup) c.6225+13_6225+29dup (n.6225+13_6225+29dup) c.5778+13_5778+29dup (n.5778+13_5778+29dup) c.5115+13_5115+29dup (n.5115+13_5115+29dup) c.9630+13_9630+29dup (n.9630+13_9630+29dup) | dbSNP |
5 | g.13752106C>A | CA2673270307 | DNAH5 | c.11028+28G>T (n.11028+28G>T) c.10983+28G>T (n.10983+28G>T) c.11136+28G>T (n.11136+28G>T) c.10041+28G>T (n.10041+28G>T) c.6225+28G>T (n.6225+28G>T) c.5778+28G>T (n.5778+28G>T) c.5115+28G>T (n.5115+28G>T) c.9630+28G>T (n.9630+28G>T) | gnomAD v4 |
5 | g.13752106C= | CA1528422894 | DNAH5 | c.11028+28G= (n.11028+28G=) c.10983+28G= (n.10983+28G=) c.11136+28G= (n.11136+28G=) c.10041+28G= (n.10041+28G=) c.6225+28G= (n.6225+28G=) c.5778+28G= (n.5778+28G=) c.5115+28G= (n.5115+28G=) c.9630+28G= (n.9630+28G=) | |
5 | g.13752106C>T | CA804438639 | DNAH5 | c.11028+28G>A (n.11028+28G>A) c.10983+28G>A (n.10983+28G>A) c.11136+28G>A (n.11136+28G>A) c.10041+28G>A (n.10041+28G>A) c.6225+28G>A (n.6225+28G>A) c.5778+28G>A (n.5778+28G>A) c.5115+28G>A (n.5115+28G>A) c.9630+28G>A (n.9630+28G>A) | dbSNP gnomAD v4 |
5 | g.13752107A>T | CA2765347455 | DNAH5 | c.11028+27T>A (n.11028+27T>A) c.10983+27T>A (n.10983+27T>A) c.11136+27T>A (n.11136+27T>A) c.10041+27T>A (n.10041+27T>A) c.6225+27T>A (n.6225+27T>A) c.5778+27T>A (n.5778+27T>A) c.5115+27T>A (n.5115+27T>A) c.9630+27T>A (n.9630+27T>A) | |
5 | g.13752108C>T | CA2673270308 | DNAH5 | c.11028+26G>A (n.11028+26G>A) c.10983+26G>A (n.10983+26G>A) c.11136+26G>A (n.11136+26G>A) c.10041+26G>A (n.10041+26G>A) c.6225+26G>A (n.6225+26G>A) c.5778+26G>A (n.5778+26G>A) c.5115+26G>A (n.5115+26G>A) c.9630+26G>A (n.9630+26G>A) | gnomAD v4 |
5 | g.13752109A= | CA1528422895 | DNAH5 | c.11028+25T= (n.11028+25T=) c.10983+25T= (n.10983+25T=) c.11136+25T= (n.11136+25T=) c.10041+25T= (n.10041+25T=) c.6225+25T= (n.6225+25T=) c.5778+25T= (n.5778+25T=) c.5115+25T= (n.5115+25T=) c.9630+25T= (n.9630+25T=) | |
5 | g.13752109A>G | CA3202079 | DNAH5 | c.11028+25T>C (n.11028+25T>C) c.10983+25T>C (n.10983+25T>C) c.11136+25T>C (n.11136+25T>C) c.10041+25T>C (n.10041+25T>C) c.6225+25T>C (n.6225+25T>C) c.5778+25T>C (n.5778+25T>C) c.5115+25T>C (n.5115+25T>C) c.9630+25T>C (n.9630+25T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752110T>C | CA1528422897 | DNAH5 | c.11028+24A>G (n.11028+24A>G) c.10983+24A>G (n.10983+24A>G) c.11136+24A>G (n.11136+24A>G) c.10041+24A>G (n.10041+24A>G) c.6225+24A>G (n.6225+24A>G) c.5778+24A>G (n.5778+24A>G) c.5115+24A>G (n.5115+24A>G) c.9630+24A>G (n.9630+24A>G) | dbSNP gnomAD v4 |
5 | g.13752110T= | CA1528422896 | DNAH5 | c.11028+24A= (n.11028+24A=) c.10983+24A= (n.10983+24A=) c.11136+24A= (n.11136+24A=) c.10041+24A= (n.10041+24A=) c.6225+24A= (n.6225+24A=) c.5778+24A= (n.5778+24A=) c.5115+24A= (n.5115+24A=) c.9630+24A= (n.9630+24A=) | |
5 | g.13752111T>C | CA557867059 | DNAH5 | c.11028+23A>G (n.11028+23A>G) c.10983+23A>G (n.10983+23A>G) c.11136+23A>G (n.11136+23A>G) c.10041+23A>G (n.10041+23A>G) c.6225+23A>G (n.6225+23A>G) c.5778+23A>G (n.5778+23A>G) c.5115+23A>G (n.5115+23A>G) c.9630+23A>G (n.9630+23A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13752111T= | CA1528422898 | DNAH5 | c.11028+23A= (n.11028+23A=) c.10983+23A= (n.10983+23A=) c.11136+23A= (n.11136+23A=) c.10041+23A= (n.10041+23A=) c.6225+23A= (n.6225+23A=) c.5778+23A= (n.5778+23A=) c.5115+23A= (n.5115+23A=) c.9630+23A= (n.9630+23A=) | |
5 | g.13752115A= | CA1528422899 | DNAH5 | c.11028+19T= (n.11028+19T=) c.10983+19T= (n.10983+19T=) c.11136+19T= (n.11136+19T=) c.10041+19T= (n.10041+19T=) c.6225+19T= (n.6225+19T=) c.5778+19T= (n.5778+19T=) c.5115+19T= (n.5115+19T=) c.9630+19T= (n.9630+19T=) | |
5 | g.13752115A>C | CA804438648 | DNAH5 | c.11028+19T>G (n.11028+19T>G) c.10983+19T>G (n.10983+19T>G) c.11136+19T>G (n.11136+19T>G) c.10041+19T>G (n.10041+19T>G) c.6225+19T>G (n.6225+19T>G) c.5778+19T>G (n.5778+19T>G) c.5115+19T>G (n.5115+19T>G) c.9630+19T>G (n.9630+19T>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13752115A>T | CA2673270309 | DNAH5 | c.11028+19T>A (n.11028+19T>A) c.10983+19T>A (n.10983+19T>A) c.11136+19T>A (n.11136+19T>A) c.10041+19T>A (n.10041+19T>A) c.6225+19T>A (n.6225+19T>A) c.5778+19T>A (n.5778+19T>A) c.5115+19T>A (n.5115+19T>A) c.9630+19T>A (n.9630+19T>A) | gnomAD v4 |
5 | g.13752116T>C | CA2673270310 | DNAH5 | c.11028+18A>G (n.11028+18A>G) c.10983+18A>G (n.10983+18A>G) c.11136+18A>G (n.11136+18A>G) c.10041+18A>G (n.10041+18A>G) c.6225+18A>G (n.6225+18A>G) c.5778+18A>G (n.5778+18A>G) c.5115+18A>G (n.5115+18A>G) c.9630+18A>G (n.9630+18A>G) | gnomAD v4 |
5 | g.13752117C>A | CA3202080 | DNAH5 | c.11028+17G>T (n.11028+17G>T) c.10983+17G>T (n.10983+17G>T) c.11136+17G>T (n.11136+17G>T) c.10041+17G>T (n.10041+17G>T) c.6225+17G>T (n.6225+17G>T) c.5778+17G>T (n.5778+17G>T) c.5115+17G>T (n.5115+17G>T) c.9630+17G>T (n.9630+17G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752117C= | CA1528422900 | DNAH5 | c.11028+17G= (n.11028+17G=) c.10983+17G= (n.10983+17G=) c.11136+17G= (n.11136+17G=) c.10041+17G= (n.10041+17G=) c.6225+17G= (n.6225+17G=) c.5778+17G= (n.5778+17G=) c.5115+17G= (n.5115+17G=) c.9630+17G= (n.9630+17G=) | |
5 | g.13752117C>T | CA2765347456 | DNAH5 | c.11028+17G>A (n.11028+17G>A) c.10983+17G>A (n.10983+17G>A) c.11136+17G>A (n.11136+17G>A) c.10041+17G>A (n.10041+17G>A) c.6225+17G>A (n.6225+17G>A) c.5778+17G>A (n.5778+17G>A) c.5115+17G>A (n.5115+17G>A) c.9630+17G>A (n.9630+17G>A) | |
5 | g.13752117_13752121del | CA2695204200 | DNAH5 | c.11028+13_11028+17del (n.11028+13_11028+17del) c.10983+13_10983+17del (n.10983+13_10983+17del) c.11136+13_11136+17del (n.11136+13_11136+17del) c.10041+13_10041+17del (n.10041+13_10041+17del) c.6225+13_6225+17del (n.6225+13_6225+17del) c.5778+13_5778+17del (n.5778+13_5778+17del) c.5115+13_5115+17del (n.5115+13_5115+17del) c.9630+13_9630+17del (n.9630+13_9630+17del) | |
5 | g.13752118C= | CA1528422901 | DNAH5 | c.11028+16G= (n.11028+16G=) c.10983+16G= (n.10983+16G=) c.11136+16G= (n.11136+16G=) c.10041+16G= (n.10041+16G=) c.6225+16G= (n.6225+16G=) c.5778+16G= (n.5778+16G=) c.5115+16G= (n.5115+16G=) c.9630+16G= (n.9630+16G=) | |
5 | g.13752118C>G | CA557867060 | DNAH5 | c.11028+16G>C (n.11028+16G>C) c.10983+16G>C (n.10983+16G>C) c.11136+16G>C (n.11136+16G>C) c.10041+16G>C (n.10041+16G>C) c.6225+16G>C (n.6225+16G>C) c.5778+16G>C (n.5778+16G>C) c.5115+16G>C (n.5115+16G>C) c.9630+16G>C (n.9630+16G>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13752118C>T | CA804438660 | DNAH5 | c.11028+16G>A (n.11028+16G>A) c.10983+16G>A (n.10983+16G>A) c.11136+16G>A (n.11136+16G>A) c.10041+16G>A (n.10041+16G>A) c.6225+16G>A (n.6225+16G>A) c.5778+16G>A (n.5778+16G>A) c.5115+16G>A (n.5115+16G>A) c.9630+16G>A (n.9630+16G>A) | dbSNP |
5 | g.13752119A= | CA1528422902 | DNAH5 | c.11028+15T= (n.11028+15T=) c.10983+15T= (n.10983+15T=) c.11136+15T= (n.11136+15T=) c.10041+15T= (n.10041+15T=) c.6225+15T= (n.6225+15T=) c.5778+15T= (n.5778+15T=) c.5115+15T= (n.5115+15T=) c.9630+15T= (n.9630+15T=) | |
5 | g.13752119A>G | CA3202081 | DNAH5 | c.11028+15T>C (n.11028+15T>C) c.10983+15T>C (n.10983+15T>C) c.11136+15T>C (n.11136+15T>C) c.10041+15T>C (n.10041+15T>C) c.6225+15T>C (n.6225+15T>C) c.5778+15T>C (n.5778+15T>C) c.5115+15T>C (n.5115+15T>C) c.9630+15T>C (n.9630+15T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752120T>C | CA3202082 | DNAH5 | c.11028+14A>G (n.11028+14A>G) c.10983+14A>G (n.10983+14A>G) c.11136+14A>G (n.11136+14A>G) c.10041+14A>G (n.10041+14A>G) c.6225+14A>G (n.6225+14A>G) c.5778+14A>G (n.5778+14A>G) c.5115+14A>G (n.5115+14A>G) c.9630+14A>G (n.9630+14A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752120T= | CA1528422903 | DNAH5 | c.11028+14A= (n.11028+14A=) c.10983+14A= (n.10983+14A=) c.11136+14A= (n.11136+14A=) c.10041+14A= (n.10041+14A=) c.6225+14A= (n.6225+14A=) c.5778+14A= (n.5778+14A=) c.5115+14A= (n.5115+14A=) c.9630+14A= (n.9630+14A=) | |
5 | g.13752121A= | CA1528422904 | DNAH5 | c.11028+13T= (n.11028+13T=) c.10983+13T= (n.10983+13T=) c.11136+13T= (n.11136+13T=) c.10041+13T= (n.10041+13T=) c.6225+13T= (n.6225+13T=) c.5778+13T= (n.5778+13T=) c.5115+13T= (n.5115+13T=) c.9630+13T= (n.9630+13T=) | |
5 | g.13752121A>C | CA1073401445 | DNAH5 | c.11028+13T>G (n.11028+13T>G) c.10983+13T>G (n.10983+13T>G) c.11136+13T>G (n.11136+13T>G) c.10041+13T>G (n.10041+13T>G) c.6225+13T>G (n.6225+13T>G) c.5778+13T>G (n.5778+13T>G) c.5115+13T>G (n.5115+13T>G) c.9630+13T>G (n.9630+13T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13752122G>A | CA3202083 | DNAH5 | c.11028+12C>T (n.11028+12C>T) c.10983+12C>T (n.10983+12C>T) c.11136+12C>T (n.11136+12C>T) c.10041+12C>T (n.10041+12C>T) c.6225+12C>T (n.6225+12C>T) c.5778+12C>T (n.5778+12C>T) c.5115+12C>T (n.5115+12C>T) c.9630+12C>T (n.9630+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752122G>C | CA2739274576 | DNAH5 | c.11028+12C>G (n.11028+12C>G) c.10983+12C>G (n.10983+12C>G) c.11136+12C>G (n.11136+12C>G) c.10041+12C>G (n.10041+12C>G) c.6225+12C>G (n.6225+12C>G) c.5778+12C>G (n.5778+12C>G) c.5115+12C>G (n.5115+12C>G) c.9630+12C>G (n.9630+12C>G) | ClinVar |
5 | g.13752122G= | CA1528422905 | DNAH5 | c.11028+12C= (n.11028+12C=) c.10983+12C= (n.10983+12C=) c.11136+12C= (n.11136+12C=) c.10041+12C= (n.10041+12C=) c.6225+12C= (n.6225+12C=) c.5778+12C= (n.5778+12C=) c.5115+12C= (n.5115+12C=) c.9630+12C= (n.9630+12C=) | |
5 | g.13752123G>C | CA2673270311 | DNAH5 | c.11028+11C>G (n.11028+11C>G) c.10983+11C>G (n.10983+11C>G) c.11136+11C>G (n.11136+11C>G) c.10041+11C>G (n.10041+11C>G) c.6225+11C>G (n.6225+11C>G) c.5778+11C>G (n.5778+11C>G) c.5115+11C>G (n.5115+11C>G) c.9630+11C>G (n.9630+11C>G) | gnomAD v4 |
5 | g.13752123G>T | CA2739274577 | DNAH5 | c.11028+11C>A (n.11028+11C>A) c.10983+11C>A (n.10983+11C>A) c.11136+11C>A (n.11136+11C>A) c.10041+11C>A (n.10041+11C>A) c.6225+11C>A (n.6225+11C>A) c.5778+11C>A (n.5778+11C>A) c.5115+11C>A (n.5115+11C>A) c.9630+11C>A (n.9630+11C>A) | ClinVar |
5 | g.13752124_13752140del | CA2695204201 | DNAH5 | c.11023_11028+11del c.10978_10983+11del c.11131_11136+11del c.10036_10041+11del c.6220_6225+11del c.5773_5778+11del c.5110_5115+11del c.9625_9630+11del | |
5 | g.13752126T>A | CA2578269755 | DNAH5 | c.11028+8A>T (n.11028+8A>T) c.10983+8A>T (n.10983+8A>T) c.11136+8A>T (n.11136+8A>T) c.10041+8A>T (n.10041+8A>T) c.6225+8A>T (n.6225+8A>T) c.5778+8A>T (n.5778+8A>T) c.5115+8A>T (n.5115+8A>T) c.9630+8A>T (n.9630+8A>T) | ClinVar gnomAD v4 |
5 | g.13752129C>A | CA804438669 | DNAH5 | c.11028+5G>T (n.11028+5G>T) c.10983+5G>T (n.10983+5G>T) c.11136+5G>T (n.11136+5G>T) c.10041+5G>T (n.10041+5G>T) c.6225+5G>T (n.6225+5G>T) c.5778+5G>T (n.5778+5G>T) c.5115+5G>T (n.5115+5G>T) c.9630+5G>T (n.9630+5G>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13752129C= | CA1528422906 | DNAH5 | c.11028+5G= (n.11028+5G=) c.10983+5G= (n.10983+5G=) c.11136+5G= (n.11136+5G=) c.10041+5G= (n.10041+5G=) c.6225+5G= (n.6225+5G=) c.5778+5G= (n.5778+5G=) c.5115+5G= (n.5115+5G=) c.9630+5G= (n.9630+5G=) | |
5 | g.13752129C>T | CA1139658755 | DNAH5 | c.11028+5G>A (n.11028+5G>A) c.10983+5G>A (n.10983+5G>A) c.11136+5G>A (n.11136+5G>A) c.10041+5G>A (n.10041+5G>A) c.6225+5G>A (n.6225+5G>A) c.5778+5G>A (n.5778+5G>A) c.5115+5G>A (n.5115+5G>A) c.9630+5G>A (n.9630+5G>A) | ClinVar dbSNP |
5 | g.13752130C>A | CA2673270312 | DNAH5 | c.11028+4G>T (n.11028+4G>T) c.10983+4G>T (n.10983+4G>T) c.11136+4G>T (n.11136+4G>T) c.10041+4G>T (n.10041+4G>T) c.6225+4G>T (n.6225+4G>T) c.5778+4G>T (n.5778+4G>T) c.5115+4G>T (n.5115+4G>T) c.9630+4G>T (n.9630+4G>T) | gnomAD v4 |
5 | g.13752131T>C | CA2708214354 | DNAH5 | c.11028+3A>G (n.11028+3A>G) c.10983+3A>G (n.10983+3A>G) c.11136+3A>G (n.11136+3A>G) c.10041+3A>G (n.10041+3A>G) c.6225+3A>G (n.6225+3A>G) c.5778+3A>G (n.5778+3A>G) c.5115+3A>G (n.5115+3A>G) c.9630+3A>G (n.9630+3A>G) | dbSNP |
5 | g.13752132A= | CA1528422907 | DNAH5 | c.11028+2T= (n.11028+2T=) c.10983+2T= (n.10983+2T=) c.11136+2T= (n.11136+2T=) c.10041+2T= (n.10041+2T=) c.6225+2T= (n.6225+2T=) c.5778+2T= (n.5778+2T=) c.5115+2T= (n.5115+2T=) c.9630+2T= (n.9630+2T=) | |
5 | g.13752132A>C | CA3202084 | DNAH5 | c.11028+2T>G (n.11028+2T>G) c.10983+2T>G (n.10983+2T>G) c.11136+2T>G (n.11136+2T>G) c.10041+2T>G (n.10041+2T>G) c.6225+2T>G (n.6225+2T>G) c.5778+2T>G (n.5778+2T>G) c.5115+2T>G (n.5115+2T>G) c.9630+2T>G (n.9630+2T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752132A>G | CA359189605 | DNAH5 | c.11028+2T>C (n.11028+2T>C) c.10983+2T>C (n.10983+2T>C) c.11136+2T>C (n.11136+2T>C) c.10041+2T>C (n.10041+2T>C) c.6225+2T>C (n.6225+2T>C) c.5778+2T>C (n.5778+2T>C) c.5115+2T>C (n.5115+2T>C) c.9630+2T>C (n.9630+2T>C) | ClinVar dbSNP |
5 | g.13752132A>T | CA359189607 | DNAH5 | c.11028+2T>A (n.11028+2T>A) c.10983+2T>A (n.10983+2T>A) c.11136+2T>A (n.11136+2T>A) c.10041+2T>A (n.10041+2T>A) c.6225+2T>A (n.6225+2T>A) c.5778+2T>A (n.5778+2T>A) c.5115+2T>A (n.5115+2T>A) c.9630+2T>A (n.9630+2T>A) | |
5 | g.13752133C>A | CA359189613 | DNAH5 | c.11028+1G>T (n.11028+1G>T) c.10983+1G>T (n.10983+1G>T) c.11136+1G>T (n.11136+1G>T) c.10041+1G>T (n.10041+1G>T) c.6225+1G>T (n.6225+1G>T) c.5778+1G>T (n.5778+1G>T) c.5115+1G>T (n.5115+1G>T) c.9630+1G>T (n.9630+1G>T) | |
5 | g.13752133C>G | CA359189609 | DNAH5 | c.11028+1G>C (n.11028+1G>C) c.10983+1G>C (n.10983+1G>C) c.11136+1G>C (n.11136+1G>C) c.10041+1G>C (n.10041+1G>C) c.6225+1G>C (n.6225+1G>C) c.5778+1G>C (n.5778+1G>C) c.5115+1G>C (n.5115+1G>C) c.9630+1G>C (n.9630+1G>C) | ClinVar dbSNP |
5 | g.13752133C>T | CA359189611 | DNAH5 | c.11028+1G>A (n.11028+1G>A) c.10983+1G>A (n.10983+1G>A) c.11136+1G>A (n.11136+1G>A) c.10041+1G>A (n.10041+1G>A) c.6225+1G>A (n.6225+1G>A) c.5778+1G>A (n.5778+1G>A) c.5115+1G>A (n.5115+1G>A) c.9630+1G>A (n.9630+1G>A) | |
5 | g.13752134del | CA2580072138 | DNAH5 | c.11028+1del c.10983+1del c.11136+1del c.10041+1del c.6225+1del c.5778+1del c.5115+1del c.9630+1del | ClinVar |
5 | g.13752134C>A | CA359189615 | DNAH5 | c.11028G>T (p.Lys3676Asn) c.10983G>T (p.Lys3661Asn) c.11136G>T (p.Lys3712Asn) c.10041G>T (p.Lys3347Asn) c.6225G>T (p.Lys2075Asn) c.5778G>T (p.Lys1926Asn) c.5115G>T (p.Lys1705Asn) c.9630G>T (p.Lys3210Asn) | COSMIC |
5 | g.13752134C= | CA1528422908 | DNAH5 | c.11028G= (p.Lys3676=) c.10983G= (p.Lys3661=) c.11136G= (p.Lys3712=) c.10041G= (p.Lys3347=) c.6225G= (p.Lys2075=) c.5778G= (p.Lys1926=) c.5115G= (p.Lys1705=) c.9630G= (p.Lys3210=) | |
5 | g.13752134C>G | CA359189617 | DNAH5 | c.11028G>C (p.Lys3676Asn) c.10983G>C (p.Lys3661Asn) c.11136G>C (p.Lys3712Asn) c.10041G>C (p.Lys3347Asn) c.6225G>C (p.Lys2075Asn) c.5778G>C (p.Lys1926Asn) c.5115G>C (p.Lys1705Asn) c.9630G>C (p.Lys3210Asn) | |
5 | g.13752134C>T | CA443248576 | DNAH5 | c.11028G>A (p.Lys3676=) c.10983G>A (p.Lys3661=) c.11136G>A (p.Lys3712=) c.10041G>A (p.Lys3347=) c.6225G>A (p.Lys2075=) c.5778G>A (p.Lys1926=) c.5115G>A (p.Lys1705=) c.9630G>A (p.Lys3210=) | |
5 | g.13752135T>A | CA359189619 | DNAH5 | c.11027A>T (p.Lys3676Met) c.10982A>T (p.Lys3661Met) c.11135A>T (p.Lys3712Met) c.10040A>T (p.Lys3347Met) c.6224A>T (p.Lys2075Met) c.5777A>T (p.Lys1926Met) c.5114A>T (p.Lys1705Met) c.9629A>T (p.Lys3210Met) | |
5 | g.13752135T>C | CA359189621 | DNAH5 | c.11027A>G (p.Lys3676Arg) c.10982A>G (p.Lys3661Arg) c.11135A>G (p.Lys3712Arg) c.10040A>G (p.Lys3347Arg) c.6224A>G (p.Lys2075Arg) c.5777A>G (p.Lys1926Arg) c.5114A>G (p.Lys1705Arg) c.9629A>G (p.Lys3210Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13752135T>G | CA359189623 | DNAH5 | c.11027A>C (p.Lys3676Thr) c.10982A>C (p.Lys3661Thr) c.11135A>C (p.Lys3712Thr) c.10040A>C (p.Lys3347Thr) c.6224A>C (p.Lys2075Thr) c.5777A>C (p.Lys1926Thr) c.5114A>C (p.Lys1705Thr) c.9629A>C (p.Lys3210Thr) | |
5 | g.13752135T= | CA1528422909 | DNAH5 | c.11027A= (p.Lys3676=) c.10982A= (p.Lys3661=) c.11135A= (p.Lys3712=) c.10040A= (p.Lys3347=) c.6224A= (p.Lys2075=) c.5777A= (p.Lys1926=) c.5114A= (p.Lys1705=) c.9629A= (p.Lys3210=) | |
5 | g.13752135_13752136insATGGT | CA804438676 | DNAH5 | c.11027_11028insCCATA (p.Lys3676AsnfsTer4) c.10982_10983insCCATA (p.Lys3661AsnfsTer4) c.11135_11136insCCATA (p.Lys3712AsnfsTer4) c.10040_10041insCCATA (p.Lys3347AsnfsTer4) c.6224_6225insCCATA (p.Lys2075AsnfsTer4) c.5777_5778insCCATA (p.Lys1926AsnfsTer4) c.5114_5115insCCATA (p.Lys1705AsnfsTer4) c.9629_9630insCCATA (p.Lys3210AsnfsTer4) | dbSNP |
5 | g.13752135_13752137delinsTTA | CA1528422910 | DNAH5 | c.11025_11027delinsTAA (p.Phe3675=) c.10980_10982delinsTAA (p.Phe3660=) c.11133_11135delinsTAA (p.Phe3711=) c.10038_10040delinsTAA (p.Phe3346=) c.6222_6224delinsTAA (p.Phe2074=) c.5775_5777delinsTAA (p.Phe1925=) c.5112_5114delinsTAA (p.Phe1704=) c.9627_9629delinsTAA (p.Phe3209=) | |
5 | g.13752136T>A | CA359189625 | DNAH5 | c.11026A>T (p.Lys3676Ter) c.10981A>T (p.Lys3661Ter) c.11134A>T (p.Lys3712Ter) c.10039A>T (p.Lys3347Ter) c.6223A>T (p.Lys2075Ter) c.5776A>T (p.Lys1926Ter) c.5113A>T (p.Lys1705Ter) c.9628A>T (p.Lys3210Ter) | ClinVar dbSNP |
5 | g.13752136T>C | CA359189627 | DNAH5 | c.11026A>G (p.Lys3676Glu) c.10981A>G (p.Lys3661Glu) c.11134A>G (p.Lys3712Glu) c.10039A>G (p.Lys3347Glu) c.6223A>G (p.Lys2075Glu) c.5776A>G (p.Lys1926Glu) c.5113A>G (p.Lys1705Glu) c.9628A>G (p.Lys3210Glu) | |
5 | g.13752136T>G | CA359189629 | DNAH5 | c.11026A>C (p.Lys3676Gln) c.10981A>C (p.Lys3661Gln) c.11134A>C (p.Lys3712Gln) c.10039A>C (p.Lys3347Gln) c.6223A>C (p.Lys2075Gln) c.5776A>C (p.Lys1926Gln) c.5113A>C (p.Lys1705Gln) c.9628A>C (p.Lys3210Gln) | |
5 | g.13752136T= | CA1528422911 | DNAH5 | c.11026A= (p.Lys3676=) c.10981A= (p.Lys3661=) c.11134A= (p.Lys3712=) c.10039A= (p.Lys3347=) c.6223A= (p.Lys2075=) c.5776A= (p.Lys1926=) c.5113A= (p.Lys1705=) c.9628A= (p.Lys3210=) | |
5 | g.13752136_13752137del | CA1073401448 | DNAH5 | c.11025_11026del (p.Phe3675LeufsTer6) c.10980_10981del (p.Phe3660LeufsTer6) c.11133_11134del (p.Phe3711LeufsTer6) c.10038_10039del (p.Phe3346LeufsTer6) c.6222_6223del (p.Phe2074LeufsTer6) c.5775_5776del (p.Phe1925LeufsTer6) c.5112_5113del (p.Phe1704LeufsTer6) c.9627_9628del (p.Phe3209LeufsTer6) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13752136_13752138delinsTAA | CA1528422912 | DNAH5 | c.11024_11026delinsTTA (p.Phe3675=) c.10979_10981delinsTTA (p.Phe3660=) c.11132_11134delinsTTA (p.Phe3711=) c.10037_10039delinsTTA (p.Phe3346=) c.6221_6223delinsTTA (p.Phe2074=) c.5774_5776delinsTTA (p.Phe1925=) c.5111_5113delinsTTA (p.Phe1704=) c.9626_9628delinsTTA (p.Phe3209=) | |
5 | g.13752137A>C | CA359189631 | DNAH5 | c.11025T>G (p.Phe3675Leu) c.10980T>G (p.Phe3660Leu) c.11133T>G (p.Phe3711Leu) c.10038T>G (p.Phe3346Leu) c.6222T>G (p.Phe2074Leu) c.5775T>G (p.Phe1925Leu) c.5112T>G (p.Phe1704Leu) c.9627T>G (p.Phe3209Leu) | |
5 | g.13752137A>G | CA443248577 | DNAH5 | c.11025T>C (p.Phe3675=) c.10980T>C (p.Phe3660=) c.11133T>C (p.Phe3711=) c.10038T>C (p.Phe3346=) c.6222T>C (p.Phe2074=) c.5775T>C (p.Phe1925=) c.5112T>C (p.Phe1704=) c.9627T>C (p.Phe3209=) | |
5 | g.13752137A>T | CA359189632 | DNAH5 | c.11025T>A (p.Phe3675Leu) c.10980T>A (p.Phe3660Leu) c.11133T>A (p.Phe3711Leu) c.10038T>A (p.Phe3346Leu) c.6222T>A (p.Phe2074Leu) c.5775T>A (p.Phe1925Leu) c.5112T>A (p.Phe1704Leu) c.9627T>A (p.Phe3209Leu) | |
5 | g.13752138_13752139del | CA804438683 | DNAH5 | c.11024_11025del (p.Phe3675Ter) c.10979_10980del (p.Phe3660Ter) c.11132_11133del (p.Phe3711Ter) c.10037_10038del (p.Phe3346Ter) c.6221_6222del (p.Phe2074Ter) c.5774_5775del (p.Phe1925Ter) c.5111_5112del (p.Phe1704Ter) c.9626_9627del (p.Phe3209Ter) | dbSNP |
5 | g.13752138A= | CA1528422913 | DNAH5 | c.11024T= (p.Phe3675=) c.10979T= (p.Phe3660=) c.11132T= (p.Phe3711=) c.10037T= (p.Phe3346=) c.6221T= (p.Phe2074=) c.5774T= (p.Phe1925=) c.5111T= (p.Phe1704=) c.9626T= (p.Phe3209=) | |
5 | g.13752138A>C | CA359189635 | DNAH5 | c.11024T>G (p.Phe3675Cys) c.10979T>G (p.Phe3660Cys) c.11132T>G (p.Phe3711Cys) c.10037T>G (p.Phe3346Cys) c.6221T>G (p.Phe2074Cys) c.5774T>G (p.Phe1925Cys) c.5111T>G (p.Phe1704Cys) c.9626T>G (p.Phe3209Cys) | |
5 | g.13752138A>G | CA359189636 | DNAH5 | c.11024T>C (p.Phe3675Ser) c.10979T>C (p.Phe3660Ser) c.11132T>C (p.Phe3711Ser) c.10037T>C (p.Phe3346Ser) c.6221T>C (p.Phe2074Ser) c.5774T>C (p.Phe1925Ser) c.5111T>C (p.Phe1704Ser) c.9626T>C (p.Phe3209Ser) | |
5 | g.13752138A>T | CA359189640 | DNAH5 | c.11024T>A (p.Phe3675Tyr) c.10979T>A (p.Phe3660Tyr) c.11132T>A (p.Phe3711Tyr) c.10037T>A (p.Phe3346Tyr) c.6221T>A (p.Phe2074Tyr) c.5774T>A (p.Phe1925Tyr) c.5111T>A (p.Phe1704Tyr) c.9626T>A (p.Phe3209Tyr) | |
5 | g.13752138_13752139insTGGTT | CA1073401453 | DNAH5 | c.11023_11024insAACCA (p.Phe3675Ter) c.10978_10979insAACCA (p.Phe3660Ter) c.11131_11132insAACCA (p.Phe3711Ter) c.10036_10037insAACCA (p.Phe3346Ter) c.6220_6221insAACCA (p.Phe2074Ter) c.5773_5774insAACCA (p.Phe1925Ter) c.5110_5111insAACCA (p.Phe1704Ter) c.9625_9626insAACCA (p.Phe3209Ter) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13752139A>C | CA359189644 | DNAH5 | c.11023T>G (p.Phe3675Val) c.10978T>G (p.Phe3660Val) c.11131T>G (p.Phe3711Val) c.10036T>G (p.Phe3346Val) c.6220T>G (p.Phe2074Val) c.5773T>G (p.Phe1925Val) c.5110T>G (p.Phe1704Val) c.9625T>G (p.Phe3209Val) | |
5 | g.13752139A>G | CA359189646 | DNAH5 | c.11023T>C (p.Phe3675Leu) c.10978T>C (p.Phe3660Leu) c.11131T>C (p.Phe3711Leu) c.10036T>C (p.Phe3346Leu) c.6220T>C (p.Phe2074Leu) c.5773T>C (p.Phe1925Leu) c.5110T>C (p.Phe1704Leu) c.9625T>C (p.Phe3209Leu) | |
5 | g.13752139A>T | CA359189642 | DNAH5 | c.11023T>A (p.Phe3675Ile) c.10978T>A (p.Phe3660Ile) c.11131T>A (p.Phe3711Ile) c.10036T>A (p.Phe3346Ile) c.6220T>A (p.Phe2074Ile) c.5773T>A (p.Phe1925Ile) c.5110T>A (p.Phe1704Ile) c.9625T>A (p.Phe3209Ile) | |
5 | g.13752140G>A | CA443248579 | DNAH5 | c.11022C>T (p.Thr3674=) c.10977C>T (p.Thr3659=) c.11130C>T (p.Thr3710=) c.10035C>T (p.Thr3345=) c.6219C>T (p.Thr2073=) c.5772C>T (p.Thr1924=) c.5109C>T (p.Thr1703=) c.9624C>T (p.Thr3208=) | |
5 | g.13752140G>C | CA443248580 | DNAH5 | c.11022C>G (p.Thr3674=) c.10977C>G (p.Thr3659=) c.11130C>G (p.Thr3710=) c.10035C>G (p.Thr3345=) c.6219C>G (p.Thr2073=) c.5772C>G (p.Thr1924=) c.5109C>G (p.Thr1703=) c.9624C>G (p.Thr3208=) | |
5 | g.13752140G>T | CA443248581 | DNAH5 | c.11022C>A (p.Thr3674=) c.10977C>A (p.Thr3659=) c.11130C>A (p.Thr3710=) c.10035C>A (p.Thr3345=) c.6219C>A (p.Thr2073=) c.5772C>A (p.Thr1924=) c.5109C>A (p.Thr1703=) c.9624C>A (p.Thr3208=) | |
5 | g.13752141del | CA2673270313 | DNAH5 | c.11022del (p.Phe3675LeufsTer3) c.10977del (p.Phe3660LeufsTer3) c.11130del (p.Phe3711LeufsTer3) c.10035del (p.Phe3346LeufsTer3) c.6219del (p.Phe2074LeufsTer3) c.5772del (p.Phe1925LeufsTer3) c.5109del (p.Phe1704LeufsTer3) c.9624del (p.Phe3209LeufsTer3) | gnomAD v4 |
5 | g.13752141G>A | CA359189648 | DNAH5 | c.11021C>T (p.Thr3674Ile) c.10976C>T (p.Thr3659Ile) c.11129C>T (p.Thr3710Ile) c.10034C>T (p.Thr3345Ile) c.6218C>T (p.Thr2073Ile) c.5771C>T (p.Thr1924Ile) c.5108C>T (p.Thr1703Ile) c.9623C>T (p.Thr3208Ile) | gnomAD v4 |
5 | g.13752141G>C | CA359189653 | DNAH5 | c.11021C>G (p.Thr3674Ser) c.10976C>G (p.Thr3659Ser) c.11129C>G (p.Thr3710Ser) c.10034C>G (p.Thr3345Ser) c.6218C>G (p.Thr2073Ser) c.5771C>G (p.Thr1924Ser) c.5108C>G (p.Thr1703Ser) c.9623C>G (p.Thr3208Ser) | |
5 | g.13752141G= | CA1528422914 | DNAH5 | c.11021C= (p.Thr3674=) c.10976C= (p.Thr3659=) c.11129C= (p.Thr3710=) c.10034C= (p.Thr3345=) c.6218C= (p.Thr2073=) c.5771C= (p.Thr1924=) c.5108C= (p.Thr1703=) c.9623C= (p.Thr3208=) | |
5 | g.13752141G>T | CA359189651 | DNAH5 | c.11021C>A (p.Thr3674Asn) c.10976C>A (p.Thr3659Asn) c.11129C>A (p.Thr3710Asn) c.10034C>A (p.Thr3345Asn) c.6218C>A (p.Thr2073Asn) c.5771C>A (p.Thr1924Asn) c.5108C>A (p.Thr1703Asn) c.9623C>A (p.Thr3208Asn) | dbSNP |
5 | g.13752142del | CA2673270314 | DNAH5 | c.11020del (p.Thr3674ProfsTer4) c.10975del (p.Thr3659ProfsTer4) c.11128del (p.Thr3710ProfsTer4) c.10033del (p.Thr3345ProfsTer4) c.6217del (p.Thr2073ProfsTer4) c.5770del (p.Thr1924ProfsTer4) c.5107del (p.Thr1703ProfsTer4) c.9622del (p.Thr3208ProfsTer4) | gnomAD v4 |
5 | g.13752142T>A | CA359189656 | DNAH5 | c.11020A>T (p.Thr3674Ser) c.10975A>T (p.Thr3659Ser) c.11128A>T (p.Thr3710Ser) c.10033A>T (p.Thr3345Ser) c.6217A>T (p.Thr2073Ser) c.5770A>T (p.Thr1924Ser) c.5107A>T (p.Thr1703Ser) c.9622A>T (p.Thr3208Ser) | |
5 | g.13752142T>C | CA359189660 | DNAH5 | c.11020A>G (p.Thr3674Ala) c.10975A>G (p.Thr3659Ala) c.11128A>G (p.Thr3710Ala) c.10033A>G (p.Thr3345Ala) c.6217A>G (p.Thr2073Ala) c.5770A>G (p.Thr1924Ala) c.5107A>G (p.Thr1703Ala) c.9622A>G (p.Thr3208Ala) | dbSNP gnomAD v4 |
5 | g.13752142T>G | CA359189657 | DNAH5 | c.11020A>C (p.Thr3674Pro) c.10975A>C (p.Thr3659Pro) c.11128A>C (p.Thr3710Pro) c.10033A>C (p.Thr3345Pro) c.6217A>C (p.Thr2073Pro) c.5770A>C (p.Thr1924Pro) c.5107A>C (p.Thr1703Pro) c.9622A>C (p.Thr3208Pro) | |
5 | g.13752142T= | CA1528422915 | DNAH5 | c.11020A= (p.Thr3674=) c.10975A= (p.Thr3659=) c.11128A= (p.Thr3710=) c.10033A= (p.Thr3345=) c.6217A= (p.Thr2073=) c.5770A= (p.Thr1924=) c.5107A= (p.Thr1703=) c.9622A= (p.Thr3208=) | |
5 | g.13752143A>C | CA443248584 | DNAH5 | c.11019T>G (p.Ser3673=) c.10974T>G (p.Ser3658=) c.11127T>G (p.Ser3709=) c.10032T>G (p.Ser3344=) c.6216T>G (p.Ser2072=) c.5769T>G (p.Ser1923=) c.5106T>G (p.Ser1702=) c.9621T>G (p.Ser3207=) | |
5 | g.13752143A>G | CA443248585 | DNAH5 | c.11019T>C (p.Ser3673=) c.10974T>C (p.Ser3658=) c.11127T>C (p.Ser3709=) c.10032T>C (p.Ser3344=) c.6216T>C (p.Ser2072=) c.5769T>C (p.Ser1923=) c.5106T>C (p.Ser1702=) c.9621T>C (p.Ser3207=) | gnomAD v4 |
5 | g.13752143A>T | CA443248586 | DNAH5 | c.11019T>A (p.Ser3673=) c.10974T>A (p.Ser3658=) c.11127T>A (p.Ser3709=) c.10032T>A (p.Ser3344=) c.6216T>A (p.Ser2072=) c.5769T>A (p.Ser1923=) c.5106T>A (p.Ser1702=) c.9621T>A (p.Ser3207=) | |
5 | g.13752144G>A | CA359189662 | DNAH5 | c.11018C>T (p.Ser3673Phe) c.10973C>T (p.Ser3658Phe) c.11126C>T (p.Ser3709Phe) c.10031C>T (p.Ser3344Phe) c.6215C>T (p.Ser2072Phe) c.5768C>T (p.Ser1923Phe) c.5105C>T (p.Ser1702Phe) c.9620C>T (p.Ser3207Phe) | ClinVar dbSNP |
5 | g.13752144G>C | CA359189664 | DNAH5 | c.11018C>G (p.Ser3673Cys) c.10973C>G (p.Ser3658Cys) c.11126C>G (p.Ser3709Cys) c.10031C>G (p.Ser3344Cys) c.6215C>G (p.Ser2072Cys) c.5768C>G (p.Ser1923Cys) c.5105C>G (p.Ser1702Cys) c.9620C>G (p.Ser3207Cys) | |
5 | g.13752144G= | CA1528422916 | DNAH5 | c.11018C= (p.Ser3673=) c.10973C= (p.Ser3658=) c.11126C= (p.Ser3709=) c.10031C= (p.Ser3344=) c.6215C= (p.Ser2072=) c.5768C= (p.Ser1923=) c.5105C= (p.Ser1702=) c.9620C= (p.Ser3207=) | |
5 | g.13752144G>T | CA359189665 | DNAH5 | c.11018C>A (p.Ser3673Tyr) c.10973C>A (p.Ser3658Tyr) c.11126C>A (p.Ser3709Tyr) c.10031C>A (p.Ser3344Tyr) c.6215C>A (p.Ser2072Tyr) c.5768C>A (p.Ser1923Tyr) c.5105C>A (p.Ser1702Tyr) c.9620C>A (p.Ser3207Tyr) | |
5 | g.13752145A= | CA1528422917 | DNAH5 | c.11017T= (p.Ser3673=) c.10972T= (p.Ser3658=) c.11125T= (p.Ser3709=) c.10030T= (p.Ser3344=) c.6214T= (p.Ser2072=) c.5767T= (p.Ser1923=) c.5104T= (p.Ser1702=) c.9619T= (p.Ser3207=) | |
5 | g.13752145A>C | CA359189667 | DNAH5 | c.11017T>G (p.Ser3673Ala) c.10972T>G (p.Ser3658Ala) c.11125T>G (p.Ser3709Ala) c.10030T>G (p.Ser3344Ala) c.6214T>G (p.Ser2072Ala) c.5767T>G (p.Ser1923Ala) c.5104T>G (p.Ser1702Ala) c.9619T>G (p.Ser3207Ala) | |
5 | g.13752145A>G | CA359189668 | DNAH5 | c.11017T>C (p.Ser3673Pro) c.10972T>C (p.Ser3658Pro) c.11125T>C (p.Ser3709Pro) c.10030T>C (p.Ser3344Pro) c.6214T>C (p.Ser2072Pro) c.5767T>C (p.Ser1923Pro) c.5104T>C (p.Ser1702Pro) c.9619T>C (p.Ser3207Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752145A>T | CA359189669 | DNAH5 | c.11017T>A (p.Ser3673Thr) c.10972T>A (p.Ser3658Thr) c.11125T>A (p.Ser3709Thr) c.10030T>A (p.Ser3344Thr) c.6214T>A (p.Ser2072Thr) c.5767T>A (p.Ser1923Thr) c.5104T>A (p.Ser1702Thr) c.9619T>A (p.Ser3207Thr) | |
5 | g.13752146C>A | CA443248589 | DNAH5 | c.11016G>T (p.Gly3672=) c.10971G>T (p.Gly3657=) c.11124G>T (p.Gly3708=) c.10029G>T (p.Gly3343=) c.6213G>T (p.Gly2071=) c.5766G>T (p.Gly1922=) c.5103G>T (p.Gly1701=) c.9618G>T (p.Gly3206=) | ClinVar dbSNP gnomAD v4 |
5 | g.13752146C= | CA1528422918 | DNAH5 | c.11016G= (p.Gly3672=) c.10971G= (p.Gly3657=) c.11124G= (p.Gly3708=) c.10029G= (p.Gly3343=) c.6213G= (p.Gly2071=) c.5766G= (p.Gly1922=) c.5103G= (p.Gly1701=) c.9618G= (p.Gly3206=) | |
5 | g.13752146C>G | CA443248591 | DNAH5 | c.11016G>C (p.Gly3672=) c.10971G>C (p.Gly3657=) c.11124G>C (p.Gly3708=) c.10029G>C (p.Gly3343=) c.6213G>C (p.Gly2071=) c.5766G>C (p.Gly1922=) c.5103G>C (p.Gly1701=) c.9618G>C (p.Gly3206=) | |
5 | g.13752146C>T | CA443248592 | DNAH5 | c.11016G>A (p.Gly3672=) c.10971G>A (p.Gly3657=) c.11124G>A (p.Gly3708=) c.10029G>A (p.Gly3343=) c.6213G>A (p.Gly2071=) c.5766G>A (p.Gly1922=) c.5103G>A (p.Gly1701=) c.9618G>A (p.Gly3206=) | dbSNP gnomAD v4 |
5 | g.13752147C>A | CA359189674 | DNAH5 | c.11015G>T (p.Gly3672Val) c.10970G>T (p.Gly3657Val) c.11123G>T (p.Gly3708Val) c.10028G>T (p.Gly3343Val) c.6212G>T (p.Gly2071Val) c.5765G>T (p.Gly1922Val) c.5102G>T (p.Gly1701Val) c.9617G>T (p.Gly3206Val) | |
5 | g.13752147C>G | CA359189673 | DNAH5 | c.11015G>C (p.Gly3672Ala) c.10970G>C (p.Gly3657Ala) c.11123G>C (p.Gly3708Ala) c.10028G>C (p.Gly3343Ala) c.6212G>C (p.Gly2071Ala) c.5765G>C (p.Gly1922Ala) c.5102G>C (p.Gly1701Ala) c.9617G>C (p.Gly3206Ala) | |
5 | g.13752147C>T | CA359189671 | DNAH5 | c.11015G>A (p.Gly3672Glu) c.10970G>A (p.Gly3657Glu) c.11123G>A (p.Gly3708Glu) c.10028G>A (p.Gly3343Glu) c.6212G>A (p.Gly2071Glu) c.5765G>A (p.Gly1922Glu) c.5102G>A (p.Gly1701Glu) c.9617G>A (p.Gly3206Glu) | ClinVar gnomAD v4 COSMIC |
5 | g.13752148C>A | CA359189675 | DNAH5 | c.11014G>T (p.Gly3672Trp) c.10969G>T (p.Gly3657Trp) c.11122G>T (p.Gly3708Trp) c.10027G>T (p.Gly3343Trp) c.6211G>T (p.Gly2071Trp) c.5764G>T (p.Gly1922Trp) c.5101G>T (p.Gly1701Trp) c.9616G>T (p.Gly3206Trp) | |
5 | g.13752148C>G | CA359189677 | DNAH5 | c.11014G>C (p.Gly3672Arg) c.10969G>C (p.Gly3657Arg) c.11122G>C (p.Gly3708Arg) c.10027G>C (p.Gly3343Arg) c.6211G>C (p.Gly2071Arg) c.5764G>C (p.Gly1922Arg) c.5101G>C (p.Gly1701Arg) c.9616G>C (p.Gly3206Arg) | |
5 | g.13752148C>T | CA359189678 | DNAH5 | c.11014G>A (p.Gly3672Arg) c.10969G>A (p.Gly3657Arg) c.11122G>A (p.Gly3708Arg) c.10027G>A (p.Gly3343Arg) c.6211G>A (p.Gly2071Arg) c.5764G>A (p.Gly1922Arg) c.5101G>A (p.Gly1701Arg) c.9616G>A (p.Gly3206Arg) | |
5 | g.13752149A= | CA1528422919 | DNAH5 | c.11013T= (p.Thr3671=) c.10968T= (p.Thr3656=) c.11121T= (p.Thr3707=) c.10026T= (p.Thr3342=) c.6210T= (p.Thr2070=) c.5763T= (p.Thr1921=) c.5100T= (p.Thr1700=) c.9615T= (p.Thr3205=) | |
5 | g.13752149A>C | CA443248594 | DNAH5 | c.11013T>G (p.Thr3671=) c.10968T>G (p.Thr3656=) c.11121T>G (p.Thr3707=) c.10026T>G (p.Thr3342=) c.6210T>G (p.Thr2070=) c.5763T>G (p.Thr1921=) c.5100T>G (p.Thr1700=) c.9615T>G (p.Thr3205=) | |
5 | g.13752149A>G | CA443248595 | DNAH5 | c.11013T>C (p.Thr3671=) c.10968T>C (p.Thr3656=) c.11121T>C (p.Thr3707=) c.10026T>C (p.Thr3342=) c.6210T>C (p.Thr2070=) c.5763T>C (p.Thr1921=) c.5100T>C (p.Thr1700=) c.9615T>C (p.Thr3205=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13752149A>T | CA443248596 | DNAH5 | c.11013T>A (p.Thr3671=) c.10968T>A (p.Thr3656=) c.11121T>A (p.Thr3707=) c.10026T>A (p.Thr3342=) c.6210T>A (p.Thr2070=) c.5763T>A (p.Thr1921=) c.5100T>A (p.Thr1700=) c.9615T>A (p.Thr3205=) | |
5 | g.13752150G>A | CA359189680 | DNAH5 | c.11012C>T (p.Thr3671Ile) c.10967C>T (p.Thr3656Ile) c.11120C>T (p.Thr3707Ile) c.10025C>T (p.Thr3342Ile) c.6209C>T (p.Thr2070Ile) c.5762C>T (p.Thr1921Ile) c.5099C>T (p.Thr1700Ile) c.9614C>T (p.Thr3205Ile) | dbSNP |
5 | g.13752150G>C | CA359189681 | DNAH5 | c.11012C>G (p.Thr3671Ser) c.10967C>G (p.Thr3656Ser) c.11120C>G (p.Thr3707Ser) c.10025C>G (p.Thr3342Ser) c.6209C>G (p.Thr2070Ser) c.5762C>G (p.Thr1921Ser) c.5099C>G (p.Thr1700Ser) c.9614C>G (p.Thr3205Ser) | |
5 | g.13752150G= | CA1528422920 | DNAH5 | c.11012C= (p.Thr3671=) c.10967C= (p.Thr3656=) c.11120C= (p.Thr3707=) c.10025C= (p.Thr3342=) c.6209C= (p.Thr2070=) c.5762C= (p.Thr1921=) c.5099C= (p.Thr1700=) c.9614C= (p.Thr3205=) | |
5 | g.13752150G>T | CA359189683 | DNAH5 | c.11012C>A (p.Thr3671Asn) c.10967C>A (p.Thr3656Asn) c.11120C>A (p.Thr3707Asn) c.10025C>A (p.Thr3342Asn) c.6209C>A (p.Thr2070Asn) c.5762C>A (p.Thr1921Asn) c.5099C>A (p.Thr1700Asn) c.9614C>A (p.Thr3205Asn) | |
5 | g.13752151T>A | CA359189685 | DNAH5 | c.11011A>T (p.Thr3671Ser) c.10966A>T (p.Thr3656Ser) c.11119A>T (p.Thr3707Ser) c.10024A>T (p.Thr3342Ser) c.6208A>T (p.Thr2070Ser) c.5761A>T (p.Thr1921Ser) c.5098A>T (p.Thr1700Ser) c.9613A>T (p.Thr3205Ser) | |
5 | g.13752151T>C | CA359189689 | DNAH5 | c.11011A>G (p.Thr3671Ala) c.10966A>G (p.Thr3656Ala) c.11119A>G (p.Thr3707Ala) c.10024A>G (p.Thr3342Ala) c.6208A>G (p.Thr2070Ala) c.5761A>G (p.Thr1921Ala) c.5098A>G (p.Thr1700Ala) c.9613A>G (p.Thr3205Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13752151T>G | CA359189687 | DNAH5 | c.11011A>C (p.Thr3671Pro) c.10966A>C (p.Thr3656Pro) c.11119A>C (p.Thr3707Pro) c.10024A>C (p.Thr3342Pro) c.6208A>C (p.Thr2070Pro) c.5761A>C (p.Thr1921Pro) c.5098A>C (p.Thr1700Pro) c.9613A>C (p.Thr3205Pro) | |
5 | g.13752151T= | CA1528422921 | DNAH5 | c.11011A= (p.Thr3671=) c.10966A= (p.Thr3656=) c.11119A= (p.Thr3707=) c.10024A= (p.Thr3342=) c.6208A= (p.Thr2070=) c.5761A= (p.Thr1921=) c.5098A= (p.Thr1700=) c.9613A= (p.Thr3205=) | |
5 | g.13752152T>A | CA359189691 | DNAH5 | c.11010A>T (p.Lys3670Asn) c.10965A>T (p.Lys3655Asn) c.11118A>T (p.Lys3706Asn) c.10023A>T (p.Lys3341Asn) c.6207A>T (p.Lys2069Asn) c.5760A>T (p.Lys1920Asn) c.5097A>T (p.Lys1699Asn) c.9612A>T (p.Lys3204Asn) | |
5 | g.13752152T>C | CA443248598 | DNAH5 | c.11010A>G (p.Lys3670=) c.10965A>G (p.Lys3655=) c.11118A>G (p.Lys3706=) c.10023A>G (p.Lys3341=) c.6207A>G (p.Lys2069=) c.5760A>G (p.Lys1920=) c.5097A>G (p.Lys1699=) c.9612A>G (p.Lys3204=) | |
5 | g.13752152T>G | CA359189693 | DNAH5 | c.11010A>C (p.Lys3670Asn) c.10965A>C (p.Lys3655Asn) c.11118A>C (p.Lys3706Asn) c.10023A>C (p.Lys3341Asn) c.6207A>C (p.Lys2069Asn) c.5760A>C (p.Lys1920Asn) c.5097A>C (p.Lys1699Asn) c.9612A>C (p.Lys3204Asn) | |
5 | g.13752153T>A | CA359189695 | DNAH5 | c.11009A>T (p.Lys3670Ile) c.10964A>T (p.Lys3655Ile) c.11117A>T (p.Lys3706Ile) c.10022A>T (p.Lys3341Ile) c.6206A>T (p.Lys2069Ile) c.5759A>T (p.Lys1920Ile) c.5096A>T (p.Lys1699Ile) c.9611A>T (p.Lys3204Ile) | |
5 | g.13752153T>C | CA359189697 | DNAH5 | c.11009A>G (p.Lys3670Arg) c.10964A>G (p.Lys3655Arg) c.11117A>G (p.Lys3706Arg) c.10022A>G (p.Lys3341Arg) c.6206A>G (p.Lys2069Arg) c.5759A>G (p.Lys1920Arg) c.5096A>G (p.Lys1699Arg) c.9611A>G (p.Lys3204Arg) | |
5 | g.13752153T>G | CA359189698 | DNAH5 | c.11009A>C (p.Lys3670Thr) c.10964A>C (p.Lys3655Thr) c.11117A>C (p.Lys3706Thr) c.10022A>C (p.Lys3341Thr) c.6206A>C (p.Lys2069Thr) c.5759A>C (p.Lys1920Thr) c.5096A>C (p.Lys1699Thr) c.9611A>C (p.Lys3204Thr) | |
5 | g.13752154T>A | CA359189700 | DNAH5 | c.11008A>T (p.Lys3670Ter) c.10963A>T (p.Lys3655Ter) c.11116A>T (p.Lys3706Ter) c.10021A>T (p.Lys3341Ter) c.6205A>T (p.Lys2069Ter) c.5758A>T (p.Lys1920Ter) c.5095A>T (p.Lys1699Ter) c.9610A>T (p.Lys3204Ter) | |
5 | g.13752154T>C | CA359189702 | DNAH5 | c.11008A>G (p.Lys3670Glu) c.10963A>G (p.Lys3655Glu) c.11116A>G (p.Lys3706Glu) c.10021A>G (p.Lys3341Glu) c.6205A>G (p.Lys2069Glu) c.5758A>G (p.Lys1920Glu) c.5095A>G (p.Lys1699Glu) c.9610A>G (p.Lys3204Glu) | |
5 | g.13752154T>G | CA359189704 | DNAH5 | c.11008A>C (p.Lys3670Gln) c.10963A>C (p.Lys3655Gln) c.11116A>C (p.Lys3706Gln) c.10021A>C (p.Lys3341Gln) c.6205A>C (p.Lys2069Gln) c.5758A>C (p.Lys1920Gln) c.5095A>C (p.Lys1699Gln) c.9610A>C (p.Lys3204Gln) | |
5 | g.13752155A>C | CA359189706 | DNAH5 | c.11007T>G (p.Ile3669Met) c.10962T>G (p.Ile3654Met) c.11115T>G (p.Ile3705Met) c.10020T>G (p.Ile3340Met) c.6204T>G (p.Ile2068Met) c.5757T>G (p.Ile1919Met) c.5094T>G (p.Ile1698Met) c.9609T>G (p.Ile3203Met) | |
5 | g.13752155A>G | CA443248601 | DNAH5 | c.11007T>C (p.Ile3669=) c.10962T>C (p.Ile3654=) c.11115T>C (p.Ile3705=) c.10020T>C (p.Ile3340=) c.6204T>C (p.Ile2068=) c.5757T>C (p.Ile1919=) c.5094T>C (p.Ile1698=) c.9609T>C (p.Ile3203=) | |
5 | g.13752155A>T | CA443248603 | DNAH5 | c.11007T>A (p.Ile3669=) c.10962T>A (p.Ile3654=) c.11115T>A (p.Ile3705=) c.10020T>A (p.Ile3340=) c.6204T>A (p.Ile2068=) c.5757T>A (p.Ile1919=) c.5094T>A (p.Ile1698=) c.9609T>A (p.Ile3203=) | |
5 | g.13752156A>C | CA359189708 | DNAH5 | c.11006T>G (p.Ile3669Ser) c.10961T>G (p.Ile3654Ser) c.11114T>G (p.Ile3705Ser) c.10019T>G (p.Ile3340Ser) c.6203T>G (p.Ile2068Ser) c.5756T>G (p.Ile1919Ser) c.5093T>G (p.Ile1698Ser) c.9608T>G (p.Ile3203Ser) | |
5 | g.13752156A>G | CA359189710 | DNAH5 | c.11006T>C (p.Ile3669Thr) c.10961T>C (p.Ile3654Thr) c.11114T>C (p.Ile3705Thr) c.10019T>C (p.Ile3340Thr) c.6203T>C (p.Ile2068Thr) c.5756T>C (p.Ile1919Thr) c.5093T>C (p.Ile1698Thr) c.9608T>C (p.Ile3203Thr) | |
5 | g.13752156A>T | CA359189712 | DNAH5 | c.11006T>A (p.Ile3669Asn) c.10961T>A (p.Ile3654Asn) c.11114T>A (p.Ile3705Asn) c.10019T>A (p.Ile3340Asn) c.6203T>A (p.Ile2068Asn) c.5756T>A (p.Ile1919Asn) c.5093T>A (p.Ile1698Asn) c.9608T>A (p.Ile3203Asn) | |
5 | g.13752157T>A | CA359189719 | DNAH5 | c.11005A>T (p.Ile3669Phe) c.10960A>T (p.Ile3654Phe) c.11113A>T (p.Ile3705Phe) c.10018A>T (p.Ile3340Phe) c.6202A>T (p.Ile2068Phe) c.5755A>T (p.Ile1919Phe) c.5092A>T (p.Ile1698Phe) c.9607A>T (p.Ile3203Phe) | |
5 | g.13752157T>C | CA359189715 | DNAH5 | c.11005A>G (p.Ile3669Val) c.10960A>G (p.Ile3654Val) c.11113A>G (p.Ile3705Val) c.10018A>G (p.Ile3340Val) c.6202A>G (p.Ile2068Val) c.5755A>G (p.Ile1919Val) c.5092A>G (p.Ile1698Val) c.9607A>G (p.Ile3203Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752157T>G | CA359189717 | DNAH5 | c.11005A>C (p.Ile3669Leu) c.10960A>C (p.Ile3654Leu) c.11113A>C (p.Ile3705Leu) c.10018A>C (p.Ile3340Leu) c.6202A>C (p.Ile2068Leu) c.5755A>C (p.Ile1919Leu) c.5092A>C (p.Ile1698Leu) c.9607A>C (p.Ile3203Leu) | ClinVar gnomAD v4 |
5 | g.13752157T= | CA1528422922 | DNAH5 | c.11005A= (p.Ile3669=) c.10960A= (p.Ile3654=) c.11113A= (p.Ile3705=) c.10018A= (p.Ile3340=) c.6202A= (p.Ile2068=) c.5755A= (p.Ile1919=) c.5092A= (p.Ile1698=) c.9607A= (p.Ile3203=) | |
5 | g.13752158G>A | CA443248606 | DNAH5 | c.11004C>T (p.Phe3668=) c.10959C>T (p.Phe3653=) c.11112C>T (p.Phe3704=) c.10017C>T (p.Phe3339=) c.6201C>T (p.Phe2067=) c.5754C>T (p.Phe1918=) c.5091C>T (p.Phe1697=) c.9606C>T (p.Phe3202=) | COSMIC |
5 | g.13752158G>C | CA359189721 | DNAH5 | c.11004C>G (p.Phe3668Leu) c.10959C>G (p.Phe3653Leu) c.11112C>G (p.Phe3704Leu) c.10017C>G (p.Phe3339Leu) c.6201C>G (p.Phe2067Leu) c.5754C>G (p.Phe1918Leu) c.5091C>G (p.Phe1697Leu) c.9606C>G (p.Phe3202Leu) | |
5 | g.13752158G= | CA1528422923 | DNAH5 | c.11004C= (p.Phe3668=) c.10959C= (p.Phe3653=) c.11112C= (p.Phe3704=) c.10017C= (p.Phe3339=) c.6201C= (p.Phe2067=) c.5754C= (p.Phe1918=) c.5091C= (p.Phe1697=) c.9606C= (p.Phe3202=) | |
5 | g.13752158G>T | CA359189723 | DNAH5 | c.11004C>A (p.Phe3668Leu) c.10959C>A (p.Phe3653Leu) c.11112C>A (p.Phe3704Leu) c.10017C>A (p.Phe3339Leu) c.6201C>A (p.Phe2067Leu) c.5754C>A (p.Phe1918Leu) c.5091C>A (p.Phe1697Leu) c.9606C>A (p.Phe3202Leu) | dbSNP |
5 | g.13752159A= | CA1528422924 | DNAH5 | c.11003T= (p.Phe3668=) c.10958T= (p.Phe3653=) c.11111T= (p.Phe3704=) c.10016T= (p.Phe3339=) c.6200T= (p.Phe2067=) c.5753T= (p.Phe1918=) c.5090T= (p.Phe1697=) c.9605T= (p.Phe3202=) | |
5 | g.13752159A>C | CA359189725 | DNAH5 | c.11003T>G (p.Phe3668Cys) c.10958T>G (p.Phe3653Cys) c.11111T>G (p.Phe3704Cys) c.10016T>G (p.Phe3339Cys) c.6200T>G (p.Phe2067Cys) c.5753T>G (p.Phe1918Cys) c.5090T>G (p.Phe1697Cys) c.9605T>G (p.Phe3202Cys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13752159A>G | CA359189727 | DNAH5 | c.11003T>C (p.Phe3668Ser) c.10958T>C (p.Phe3653Ser) c.11111T>C (p.Phe3704Ser) c.10016T>C (p.Phe3339Ser) c.6200T>C (p.Phe2067Ser) c.5753T>C (p.Phe1918Ser) c.5090T>C (p.Phe1697Ser) c.9605T>C (p.Phe3202Ser) | |
5 | g.13752159A>T | CA359189730 | DNAH5 | c.11003T>A (p.Phe3668Tyr) c.10958T>A (p.Phe3653Tyr) c.11111T>A (p.Phe3704Tyr) c.10016T>A (p.Phe3339Tyr) c.6200T>A (p.Phe2067Tyr) c.5753T>A (p.Phe1918Tyr) c.5090T>A (p.Phe1697Tyr) c.9605T>A (p.Phe3202Tyr) | |
5 | g.13752160A>C | CA359189732 | DNAH5 | c.11002T>G (p.Phe3668Val) c.10957T>G (p.Phe3653Val) c.11110T>G (p.Phe3704Val) c.10015T>G (p.Phe3339Val) c.6199T>G (p.Phe2067Val) c.5752T>G (p.Phe1918Val) c.5089T>G (p.Phe1697Val) c.9604T>G (p.Phe3202Val) | |
5 | g.13752160A>G | CA359189734 | DNAH5 | c.11002T>C (p.Phe3668Leu) c.10957T>C (p.Phe3653Leu) c.11110T>C (p.Phe3704Leu) c.10015T>C (p.Phe3339Leu) c.6199T>C (p.Phe2067Leu) c.5752T>C (p.Phe1918Leu) c.5089T>C (p.Phe1697Leu) c.9604T>C (p.Phe3202Leu) | |
5 | g.13752160A>T | CA359189737 | DNAH5 | c.11002T>A (p.Phe3668Ile) c.10957T>A (p.Phe3653Ile) c.11110T>A (p.Phe3704Ile) c.10015T>A (p.Phe3339Ile) c.6199T>A (p.Phe2067Ile) c.5752T>A (p.Phe1918Ile) c.5089T>A (p.Phe1697Ile) c.9604T>A (p.Phe3202Ile) | |
5 | g.13752161G>A | CA443248610 | DNAH5 | c.11001C>T (p.Asn3667=) c.10956C>T (p.Asn3652=) c.11109C>T (p.Asn3703=) c.10014C>T (p.Asn3338=) c.6198C>T (p.Asn2066=) c.5751C>T (p.Asn1917=) c.5088C>T (p.Asn1696=) c.9603C>T (p.Asn3201=) | |
5 | g.13752161G>C | CA359189740 | DNAH5 | c.11001C>G (p.Asn3667Lys) c.10956C>G (p.Asn3652Lys) c.11109C>G (p.Asn3703Lys) c.10014C>G (p.Asn3338Lys) c.6198C>G (p.Asn2066Lys) c.5751C>G (p.Asn1917Lys) c.5088C>G (p.Asn1696Lys) c.9603C>G (p.Asn3201Lys) | |
5 | g.13752161G>T | CA359189742 | DNAH5 | c.11001C>A (p.Asn3667Lys) c.10956C>A (p.Asn3652Lys) c.11109C>A (p.Asn3703Lys) c.10014C>A (p.Asn3338Lys) c.6198C>A (p.Asn2066Lys) c.5751C>A (p.Asn1917Lys) c.5088C>A (p.Asn1696Lys) c.9603C>A (p.Asn3201Lys) | |
5 | g.13752162T>A | CA359189744 | DNAH5 | c.11000A>T (p.Asn3667Ile) c.10955A>T (p.Asn3652Ile) c.11108A>T (p.Asn3703Ile) c.10013A>T (p.Asn3338Ile) c.6197A>T (p.Asn2066Ile) c.5750A>T (p.Asn1917Ile) c.5087A>T (p.Asn1696Ile) c.9602A>T (p.Asn3201Ile) | |
5 | g.13752162T>C | CA359189746 | DNAH5 | c.11000A>G (p.Asn3667Ser) c.10955A>G (p.Asn3652Ser) c.11108A>G (p.Asn3703Ser) c.10013A>G (p.Asn3338Ser) c.6197A>G (p.Asn2066Ser) c.5750A>G (p.Asn1917Ser) c.5087A>G (p.Asn1696Ser) c.9602A>G (p.Asn3201Ser) | |
5 | g.13752162T>G | CA359189748 | DNAH5 | c.11000A>C (p.Asn3667Thr) c.10955A>C (p.Asn3652Thr) c.11108A>C (p.Asn3703Thr) c.10013A>C (p.Asn3338Thr) c.6197A>C (p.Asn2066Thr) c.5750A>C (p.Asn1917Thr) c.5087A>C (p.Asn1696Thr) c.9602A>C (p.Asn3201Thr) | |
5 | g.13752163T>A | CA359189759 | DNAH5 | c.10999A>T (p.Asn3667Tyr) c.10954A>T (p.Asn3652Tyr) c.11107A>T (p.Asn3703Tyr) c.10012A>T (p.Asn3338Tyr) c.6196A>T (p.Asn2066Tyr) c.5749A>T (p.Asn1917Tyr) c.5086A>T (p.Asn1696Tyr) c.9601A>T (p.Asn3201Tyr) | |
5 | g.13752163T>C | CA359189758 | DNAH5 | c.10999A>G (p.Asn3667Asp) c.10954A>G (p.Asn3652Asp) c.11107A>G (p.Asn3703Asp) c.10012A>G (p.Asn3338Asp) c.6196A>G (p.Asn2066Asp) c.5749A>G (p.Asn1917Asp) c.5086A>G (p.Asn1696Asp) c.9601A>G (p.Asn3201Asp) | |
5 | g.13752163T>G | CA3202085 | DNAH5 | c.10999A>C (p.Asn3667His) c.10954A>C (p.Asn3652His) c.11107A>C (p.Asn3703His) c.10012A>C (p.Asn3338His) c.6196A>C (p.Asn2066His) c.5749A>C (p.Asn1917His) c.5086A>C (p.Asn1696His) c.9601A>C (p.Asn3201His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752163T= | CA1528422925 | DNAH5 | c.10999A= (p.Asn3667=) c.10954A= (p.Asn3652=) c.11107A= (p.Asn3703=) c.10012A= (p.Asn3338=) c.6196A= (p.Asn2066=) c.5749A= (p.Asn1917=) c.5086A= (p.Asn1696=) c.9601A= (p.Asn3201=) | |
5 | g.13752164T>A | CA359189762 | DNAH5 | c.10998A>T (p.Arg3666Ser) c.10953A>T (p.Arg3651Ser) c.11106A>T (p.Arg3702Ser) c.10011A>T (p.Arg3337Ser) c.6195A>T (p.Arg2065Ser) c.5748A>T (p.Arg1916Ser) c.5085A>T (p.Arg1695Ser) c.9600A>T (p.Arg3200Ser) | |
5 | g.13752164T>C | CA443248615 | DNAH5 | c.10998A>G (p.Arg3666=) c.10953A>G (p.Arg3651=) c.11106A>G (p.Arg3702=) c.10011A>G (p.Arg3337=) c.6195A>G (p.Arg2065=) c.5748A>G (p.Arg1916=) c.5085A>G (p.Arg1695=) c.9600A>G (p.Arg3200=) | ClinVar |
5 | g.13752164T>G | CA359189764 | DNAH5 | c.10998A>C (p.Arg3666Ser) c.10953A>C (p.Arg3651Ser) c.11106A>C (p.Arg3702Ser) c.10011A>C (p.Arg3337Ser) c.6195A>C (p.Arg2065Ser) c.5748A>C (p.Arg1916Ser) c.5085A>C (p.Arg1695Ser) c.9600A>C (p.Arg3200Ser) | |
5 | g.13752164_13752165delinsAT | CA645541002 | DNAH5 | c.10997_10998delinsAT (p.Arg3666Asn) c.10952_10953delinsAT (p.Arg3651Asn) c.11105_11106delinsAT (p.Arg3702Asn) c.10010_10011delinsAT (p.Arg3337Asn) c.6194_6195delinsAT (p.Arg2065Asn) c.5747_5748delinsAT (p.Arg1916Asn) c.5084_5085delinsAT (p.Arg1695Asn) c.9599_9600delinsAT (p.Arg3200Asn) | COSMIC |
5 | g.13752165C>A | CA359189766 | DNAH5 | c.10997G>T (p.Arg3666Ile) c.10952G>T (p.Arg3651Ile) c.11105G>T (p.Arg3702Ile) c.10010G>T (p.Arg3337Ile) c.6194G>T (p.Arg2065Ile) c.5747G>T (p.Arg1916Ile) c.5084G>T (p.Arg1695Ile) c.9599G>T (p.Arg3200Ile) | dbSNP gnomAD v2 COSMIC |
5 | g.13752165C= | CA1528422926 | DNAH5 | c.10997G= (p.Arg3666=) c.10952G= (p.Arg3651=) c.11105G= (p.Arg3702=) c.10010G= (p.Arg3337=) c.6194G= (p.Arg2065=) c.5747G= (p.Arg1916=) c.5084G= (p.Arg1695=) c.9599G= (p.Arg3200=) | |
5 | g.13752165C>G | CA359189768 | DNAH5 | c.10997G>C (p.Arg3666Thr) c.10952G>C (p.Arg3651Thr) c.11105G>C (p.Arg3702Thr) c.10010G>C (p.Arg3337Thr) c.6194G>C (p.Arg2065Thr) c.5747G>C (p.Arg1916Thr) c.5084G>C (p.Arg1695Thr) c.9599G>C (p.Arg3200Thr) | |
5 | g.13752165C>T | CA359189771 | DNAH5 | c.10997G>A (p.Arg3666Lys) c.10952G>A (p.Arg3651Lys) c.11105G>A (p.Arg3702Lys) c.10010G>A (p.Arg3337Lys) c.6194G>A (p.Arg2065Lys) c.5747G>A (p.Arg1916Lys) c.5084G>A (p.Arg1695Lys) c.9599G>A (p.Arg3200Lys) | |
5 | g.13752166T>A | CA359189773 | DNAH5 | c.10996A>T (p.Arg3666Ter) c.10951A>T (p.Arg3651Ter) c.11104A>T (p.Arg3702Ter) c.10009A>T (p.Arg3337Ter) c.6193A>T (p.Arg2065Ter) c.5746A>T (p.Arg1916Ter) c.5083A>T (p.Arg1695Ter) c.9598A>T (p.Arg3200Ter) | ClinVar gnomAD v4 |
5 | g.13752166T>C | CA359189776 | DNAH5 | c.10996A>G (p.Arg3666Gly) c.10951A>G (p.Arg3651Gly) c.11104A>G (p.Arg3702Gly) c.10009A>G (p.Arg3337Gly) c.6193A>G (p.Arg2065Gly) c.5746A>G (p.Arg1916Gly) c.5083A>G (p.Arg1695Gly) c.9598A>G (p.Arg3200Gly) | |
5 | g.13752166T>G | CA443248617 | DNAH5 | c.10996A>C (p.Arg3666=) c.10951A>C (p.Arg3651=) c.11104A>C (p.Arg3702=) c.10009A>C (p.Arg3337=) c.6193A>C (p.Arg2065=) c.5746A>C (p.Arg1916=) c.5083A>C (p.Arg1695=) c.9598A>C (p.Arg3200=) | |
5 | g.13752167T>A | CA359189780 | DNAH5 | c.10995A>T (p.Glu3665Asp) c.10950A>T (p.Glu3650Asp) c.11103A>T (p.Glu3701Asp) c.10008A>T (p.Glu3336Asp) c.6192A>T (p.Glu2064Asp) c.5745A>T (p.Glu1915Asp) c.5082A>T (p.Glu1694Asp) c.9597A>T (p.Glu3199Asp) | |
5 | g.13752167T>C | CA443248618 | DNAH5 | c.10995A>G (p.Glu3665=) c.10950A>G (p.Glu3650=) c.11103A>G (p.Glu3701=) c.10008A>G (p.Glu3336=) c.6192A>G (p.Glu2064=) c.5745A>G (p.Glu1915=) c.5082A>G (p.Glu1694=) c.9597A>G (p.Glu3199=) | |
5 | g.13752167T>G | CA359189782 | DNAH5 | c.10995A>C (p.Glu3665Asp) c.10950A>C (p.Glu3650Asp) c.11103A>C (p.Glu3701Asp) c.10008A>C (p.Glu3336Asp) c.6192A>C (p.Glu2064Asp) c.5745A>C (p.Glu1915Asp) c.5082A>C (p.Glu1694Asp) c.9597A>C (p.Glu3199Asp) | |
5 | g.13752168T>A | CA359189783 | DNAH5 | c.10994A>T (p.Glu3665Val) c.10949A>T (p.Glu3650Val) c.11102A>T (p.Glu3701Val) c.10007A>T (p.Glu3336Val) c.6191A>T (p.Glu2064Val) c.5744A>T (p.Glu1915Val) c.5081A>T (p.Glu1694Val) c.9596A>T (p.Glu3199Val) | |
5 | g.13752168T>C | CA359189785 | DNAH5 | c.10994A>G (p.Glu3665Gly) c.10949A>G (p.Glu3650Gly) c.11102A>G (p.Glu3701Gly) c.10007A>G (p.Glu3336Gly) c.6191A>G (p.Glu2064Gly) c.5744A>G (p.Glu1915Gly) c.5081A>G (p.Glu1694Gly) c.9596A>G (p.Glu3199Gly) | |
5 | g.13752168T>G | CA359189787 | DNAH5 | c.10994A>C (p.Glu3665Ala) c.10949A>C (p.Glu3650Ala) c.11102A>C (p.Glu3701Ala) c.10007A>C (p.Glu3336Ala) c.6191A>C (p.Glu2064Ala) c.5744A>C (p.Glu1915Ala) c.5081A>C (p.Glu1694Ala) c.9596A>C (p.Glu3199Ala) | gnomAD v4 |
5 | g.13752169C>A | CA359189789 | DNAH5 | c.10993G>T (p.Glu3665Ter) c.10948G>T (p.Glu3650Ter) c.11101G>T (p.Glu3701Ter) c.10006G>T (p.Glu3336Ter) c.6190G>T (p.Glu2064Ter) c.5743G>T (p.Glu1915Ter) c.5080G>T (p.Glu1694Ter) c.9595G>T (p.Glu3199Ter) | |
5 | g.13752169C>G | CA359189792 | DNAH5 | c.10993G>C (p.Glu3665Gln) c.10948G>C (p.Glu3650Gln) c.11101G>C (p.Glu3701Gln) c.10006G>C (p.Glu3336Gln) c.6190G>C (p.Glu2064Gln) c.5743G>C (p.Glu1915Gln) c.5080G>C (p.Glu1694Gln) c.9595G>C (p.Glu3199Gln) | |
5 | g.13752169C>T | CA359189790 | DNAH5 | c.10993G>A (p.Glu3665Lys) c.10948G>A (p.Glu3650Lys) c.11101G>A (p.Glu3701Lys) c.10006G>A (p.Glu3336Lys) c.6190G>A (p.Glu2064Lys) c.5743G>A (p.Glu1915Lys) c.5080G>A (p.Glu1694Lys) c.9595G>A (p.Glu3199Lys) | |
5 | g.13752170C>A | CA359189795 | DNAH5 | c.10992G>T (p.Leu3664Phe) c.10947G>T (p.Leu3649Phe) c.11100G>T (p.Leu3700Phe) c.10005G>T (p.Leu3335Phe) c.6189G>T (p.Leu2063Phe) c.5742G>T (p.Leu1914Phe) c.5079G>T (p.Leu1693Phe) c.9594G>T (p.Leu3198Phe) | |
5 | g.13752170C= | CA1528422927 | DNAH5 | c.10992G= (p.Leu3664=) c.10947G= (p.Leu3649=) c.11100G= (p.Leu3700=) c.10005G= (p.Leu3335=) c.6189G= (p.Leu2063=) c.5742G= (p.Leu1914=) c.5079G= (p.Leu1693=) c.9594G= (p.Leu3198=) | |
5 | g.13752170C>G | CA359189798 | DNAH5 | c.10992G>C (p.Leu3664Phe) c.10947G>C (p.Leu3649Phe) c.11100G>C (p.Leu3700Phe) c.10005G>C (p.Leu3335Phe) c.6189G>C (p.Leu2063Phe) c.5742G>C (p.Leu1914Phe) c.5079G>C (p.Leu1693Phe) c.9594G>C (p.Leu3198Phe) | |
5 | g.13752170C>T | CA3202086 | DNAH5 | c.10992G>A (p.Leu3664=) c.10947G>A (p.Leu3649=) c.11100G>A (p.Leu3700=) c.10005G>A (p.Leu3335=) c.6189G>A (p.Leu2063=) c.5742G>A (p.Leu1914=) c.5079G>A (p.Leu1693=) c.9594G>A (p.Leu3198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752171A>C | CA359189799 | DNAH5 | c.10991T>G (p.Leu3664Trp) c.10946T>G (p.Leu3649Trp) c.11099T>G (p.Leu3700Trp) c.10004T>G (p.Leu3335Trp) c.6188T>G (p.Leu2063Trp) c.5741T>G (p.Leu1914Trp) c.5078T>G (p.Leu1693Trp) c.9593T>G (p.Leu3198Trp) | |
5 | g.13752171A>G | CA359189801 | DNAH5 | c.10991T>C (p.Leu3664Ser) c.10946T>C (p.Leu3649Ser) c.11099T>C (p.Leu3700Ser) c.10004T>C (p.Leu3335Ser) c.6188T>C (p.Leu2063Ser) c.5741T>C (p.Leu1914Ser) c.5078T>C (p.Leu1693Ser) c.9593T>C (p.Leu3198Ser) | |
5 | g.13752171A>T | CA359189803 | DNAH5 | c.10991T>A (p.Leu3664Ter) c.10946T>A (p.Leu3649Ter) c.11099T>A (p.Leu3700Ter) c.10004T>A (p.Leu3335Ter) c.6188T>A (p.Leu2063Ter) c.5741T>A (p.Leu1914Ter) c.5078T>A (p.Leu1693Ter) c.9593T>A (p.Leu3198Ter) | |
5 | g.13752172A>C | CA359189805 | DNAH5 | c.10990T>G (p.Leu3664Val) c.10945T>G (p.Leu3649Val) c.11098T>G (p.Leu3700Val) c.10003T>G (p.Leu3335Val) c.6187T>G (p.Leu2063Val) c.5740T>G (p.Leu1914Val) c.5077T>G (p.Leu1693Val) c.9592T>G (p.Leu3198Val) | |
5 | g.13752172A>G | CA443248624 | DNAH5 | c.10990T>C (p.Leu3664=) c.10945T>C (p.Leu3649=) c.11098T>C (p.Leu3700=) c.10003T>C (p.Leu3335=) c.6187T>C (p.Leu2063=) c.5740T>C (p.Leu1914=) c.5077T>C (p.Leu1693=) c.9592T>C (p.Leu3198=) | |
5 | g.13752172A>T | CA359189807 | DNAH5 | c.10990T>A (p.Leu3664Met) c.10945T>A (p.Leu3649Met) c.11098T>A (p.Leu3700Met) c.10003T>A (p.Leu3335Met) c.6187T>A (p.Leu2063Met) c.5740T>A (p.Leu1914Met) c.5077T>A (p.Leu1693Met) c.9592T>A (p.Leu3198Met) | |
5 | g.13752173A>C | CA443248626 | DNAH5 | c.10989T>G (p.Val3663=) c.10944T>G (p.Val3648=) c.11097T>G (p.Val3699=) c.10002T>G (p.Val3334=) c.6186T>G (p.Val2062=) c.5739T>G (p.Val1913=) c.5076T>G (p.Val1692=) c.9591T>G (p.Val3197=) | |
5 | g.13752173A>G | CA443248628 | DNAH5 | c.10989T>C (p.Val3663=) c.10944T>C (p.Val3648=) c.11097T>C (p.Val3699=) c.10002T>C (p.Val3334=) c.6186T>C (p.Val2062=) c.5739T>C (p.Val1913=) c.5076T>C (p.Val1692=) c.9591T>C (p.Val3197=) | |
5 | g.13752173A>T | CA443248630 | DNAH5 | c.10989T>A (p.Val3663=) c.10944T>A (p.Val3648=) c.11097T>A (p.Val3699=) c.10002T>A (p.Val3334=) c.6186T>A (p.Val2062=) c.5739T>A (p.Val1913=) c.5076T>A (p.Val1692=) c.9591T>A (p.Val3197=) | |
5 | g.13752174A>C | CA359189813 | DNAH5 | c.10988T>G (p.Val3663Gly) c.10943T>G (p.Val3648Gly) c.11096T>G (p.Val3699Gly) c.10001T>G (p.Val3334Gly) c.6185T>G (p.Val2062Gly) c.5738T>G (p.Val1913Gly) c.5075T>G (p.Val1692Gly) c.9590T>G (p.Val3197Gly) | |
5 | g.13752174A>G | CA359189815 | DNAH5 | c.10988T>C (p.Val3663Ala) c.10943T>C (p.Val3648Ala) c.11096T>C (p.Val3699Ala) c.10001T>C (p.Val3334Ala) c.6185T>C (p.Val2062Ala) c.5738T>C (p.Val1913Ala) c.5075T>C (p.Val1692Ala) c.9590T>C (p.Val3197Ala) | |
5 | g.13752174A>T | CA359189818 | DNAH5 | c.10988T>A (p.Val3663Asp) c.10943T>A (p.Val3648Asp) c.11096T>A (p.Val3699Asp) c.10001T>A (p.Val3334Asp) c.6185T>A (p.Val2062Asp) c.5738T>A (p.Val1913Asp) c.5075T>A (p.Val1692Asp) c.9590T>A (p.Val3197Asp) | |
5 | g.13752175C>A | CA359189822 | DNAH5 | c.10987G>T (p.Val3663Phe) c.10942G>T (p.Val3648Phe) c.11095G>T (p.Val3699Phe) c.10000G>T (p.Val3334Phe) c.6184G>T (p.Val2062Phe) c.5737G>T (p.Val1913Phe) c.5074G>T (p.Val1692Phe) c.9589G>T (p.Val3197Phe) | |
5 | g.13752175C>G | CA359189825 | DNAH5 | c.10987G>C (p.Val3663Leu) c.10942G>C (p.Val3648Leu) c.11095G>C (p.Val3699Leu) c.10000G>C (p.Val3334Leu) c.6184G>C (p.Val2062Leu) c.5737G>C (p.Val1913Leu) c.5074G>C (p.Val1692Leu) c.9589G>C (p.Val3197Leu) | |
5 | g.13752175C>T | CA359189827 | DNAH5 | c.10987G>A (p.Val3663Ile) c.10942G>A (p.Val3648Ile) c.11095G>A (p.Val3699Ile) c.10000G>A (p.Val3334Ile) c.6184G>A (p.Val2062Ile) c.5737G>A (p.Val1913Ile) c.5074G>A (p.Val1692Ile) c.9589G>A (p.Val3197Ile) | gnomAD v4 |
5 | g.13752176A= | CA1528422928 | DNAH5 | c.10986T= (p.Asn3662=) c.10941T= (p.Asn3647=) c.11094T= (p.Asn3698=) c.9999T= (p.Asn3333=) c.6183T= (p.Asn2061=) c.5736T= (p.Asn1912=) c.5073T= (p.Asn1691=) c.9588T= (p.Asn3196=) | |
5 | g.13752176A>C | CA359189834 | DNAH5 | c.10986T>G (p.Asn3662Lys) c.10941T>G (p.Asn3647Lys) c.11094T>G (p.Asn3698Lys) c.9999T>G (p.Asn3333Lys) c.6183T>G (p.Asn2061Lys) c.5736T>G (p.Asn1912Lys) c.5073T>G (p.Asn1691Lys) c.9588T>G (p.Asn3196Lys) | |
5 | g.13752176A>G | CA443248633 | DNAH5 | c.10986T>C (p.Asn3662=) c.10941T>C (p.Asn3647=) c.11094T>C (p.Asn3698=) c.9999T>C (p.Asn3333=) c.6183T>C (p.Asn2061=) c.5736T>C (p.Asn1912=) c.5073T>C (p.Asn1691=) c.9588T>C (p.Asn3196=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13752176A>T | CA359189831 | DNAH5 | c.10986T>A (p.Asn3662Lys) c.10941T>A (p.Asn3647Lys) c.11094T>A (p.Asn3698Lys) c.9999T>A (p.Asn3333Lys) c.6183T>A (p.Asn2061Lys) c.5736T>A (p.Asn1912Lys) c.5073T>A (p.Asn1691Lys) c.9588T>A (p.Asn3196Lys) | |
5 | g.13752177T>A | CA359189836 | DNAH5 | c.10985A>T (p.Asn3662Ile) c.10940A>T (p.Asn3647Ile) c.11093A>T (p.Asn3698Ile) c.9998A>T (p.Asn3333Ile) c.6182A>T (p.Asn2061Ile) c.5735A>T (p.Asn1912Ile) c.5072A>T (p.Asn1691Ile) c.9587A>T (p.Asn3196Ile) | |
5 | g.13752177T>C | CA359189866 | DNAH5 | c.10985A>G (p.Asn3662Ser) c.10940A>G (p.Asn3647Ser) c.11093A>G (p.Asn3698Ser) c.9998A>G (p.Asn3333Ser) c.6182A>G (p.Asn2061Ser) c.5735A>G (p.Asn1912Ser) c.5072A>G (p.Asn1691Ser) c.9587A>G (p.Asn3196Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13752177T>G | CA359189869 | DNAH5 | c.10985A>C (p.Asn3662Thr) c.10940A>C (p.Asn3647Thr) c.11093A>C (p.Asn3698Thr) c.9998A>C (p.Asn3333Thr) c.6182A>C (p.Asn2061Thr) c.5735A>C (p.Asn1912Thr) c.5072A>C (p.Asn1691Thr) c.9587A>C (p.Asn3196Thr) | |
5 | g.13752177T= | CA1528422929 | DNAH5 | c.10985A= (p.Asn3662=) c.10940A= (p.Asn3647=) c.11093A= (p.Asn3698=) c.9998A= (p.Asn3333=) c.6182A= (p.Asn2061=) c.5735A= (p.Asn1912=) c.5072A= (p.Asn1691=) c.9587A= (p.Asn3196=) | |
5 | g.13752178T>A | CA359189872 | DNAH5 | c.10984A>T (p.Asn3662Tyr) c.10939A>T (p.Asn3647Tyr) c.11092A>T (p.Asn3698Tyr) c.9997A>T (p.Asn3333Tyr) c.6181A>T (p.Asn2061Tyr) c.5734A>T (p.Asn1912Tyr) c.5071A>T (p.Asn1691Tyr) c.9586A>T (p.Asn3196Tyr) | |
5 | g.13752178T>C | CA359189873 | DNAH5 | c.10984A>G (p.Asn3662Asp) c.10939A>G (p.Asn3647Asp) c.11092A>G (p.Asn3698Asp) c.9997A>G (p.Asn3333Asp) c.6181A>G (p.Asn2061Asp) c.5734A>G (p.Asn1912Asp) c.5071A>G (p.Asn1691Asp) c.9586A>G (p.Asn3196Asp) | dbSNP gnomAD v4 |
5 | g.13752178T>G | CA359189876 | DNAH5 | c.10984A>C (p.Asn3662His) c.10939A>C (p.Asn3647His) c.11092A>C (p.Asn3698His) c.9997A>C (p.Asn3333His) c.6181A>C (p.Asn2061His) c.5734A>C (p.Asn1912His) c.5071A>C (p.Asn1691His) c.9586A>C (p.Asn3196His) | |
5 | g.13752178T= | CA1528422930 | DNAH5 | c.10984A= (p.Asn3662=) c.10939A= (p.Asn3647=) c.11092A= (p.Asn3698=) c.9997A= (p.Asn3333=) c.6181A= (p.Asn2061=) c.5734A= (p.Asn1912=) c.5071A= (p.Asn1691=) c.9586A= (p.Asn3196=) | |
5 | g.13752179A= | CA1528422931 | DNAH5 | c.10983T= (p.Asp3661=) c.10938T= (p.Asp3646=) c.11091T= (p.Asp3697=) c.9996T= (p.Asp3332=) c.6180T= (p.Asp2060=) c.5733T= (p.Asp1911=) c.5070T= (p.Asp1690=) c.9585T= (p.Asp3195=) | |
5 | g.13752179A>C | CA359189880 | DNAH5 | c.10983T>G (p.Asp3661Glu) c.10938T>G (p.Asp3646Glu) c.11091T>G (p.Asp3697Glu) c.9996T>G (p.Asp3332Glu) c.6180T>G (p.Asp2060Glu) c.5733T>G (p.Asp1911Glu) c.5070T>G (p.Asp1690Glu) c.9585T>G (p.Asp3195Glu) | |
5 | g.13752179A>G | CA443248635 | DNAH5 | c.10983T>C (p.Asp3661=) c.10938T>C (p.Asp3646=) c.11091T>C (p.Asp3697=) c.9996T>C (p.Asp3332=) c.6180T>C (p.Asp2060=) c.5733T>C (p.Asp1911=) c.5070T>C (p.Asp1690=) c.9585T>C (p.Asp3195=) | ClinVar dbSNP gnomAD v4 |
5 | g.13752179A>T | CA10622655 | DNAH5 | c.10983T>A (p.Asp3661Glu) c.10938T>A (p.Asp3646Glu) c.11091T>A (p.Asp3697Glu) c.9996T>A (p.Asp3332Glu) c.6180T>A (p.Asp2060Glu) c.5733T>A (p.Asp1911Glu) c.5070T>A (p.Asp1690Glu) c.9585T>A (p.Asp3195Glu) | ClinVar dbSNP gnomAD v4 |
5 | g.13752180T>A | CA359189887 | DNAH5 | c.10982A>T (p.Asp3661Val) c.10937A>T (p.Asp3646Val) c.11090A>T (p.Asp3697Val) c.9995A>T (p.Asp3332Val) c.6179A>T (p.Asp2060Val) c.5732A>T (p.Asp1911Val) c.5069A>T (p.Asp1690Val) c.9584A>T (p.Asp3195Val) | |
5 | g.13752180T>C | CA359189890 | DNAH5 | c.10982A>G (p.Asp3661Gly) c.10937A>G (p.Asp3646Gly) c.11090A>G (p.Asp3697Gly) c.9995A>G (p.Asp3332Gly) c.6179A>G (p.Asp2060Gly) c.5732A>G (p.Asp1911Gly) c.5069A>G (p.Asp1690Gly) c.9584A>G (p.Asp3195Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752180T>G | CA359189893 | DNAH5 | c.10982A>C (p.Asp3661Ala) c.10937A>C (p.Asp3646Ala) c.11090A>C (p.Asp3697Ala) c.9995A>C (p.Asp3332Ala) c.6179A>C (p.Asp2060Ala) c.5732A>C (p.Asp1911Ala) c.5069A>C (p.Asp1690Ala) c.9584A>C (p.Asp3195Ala) | |
5 | g.13752180T= | CA1528422932 | DNAH5 | c.10982A= (p.Asp3661=) c.10937A= (p.Asp3646=) c.11090A= (p.Asp3697=) c.9995A= (p.Asp3332=) c.6179A= (p.Asp2060=) c.5732A= (p.Asp1911=) c.5069A= (p.Asp1690=) c.9584A= (p.Asp3195=) | |
5 | g.13752181C>A | CA359189899 | DNAH5 | c.10981G>T (p.Asp3661Tyr) c.10936G>T (p.Asp3646Tyr) c.11089G>T (p.Asp3697Tyr) c.9994G>T (p.Asp3332Tyr) c.6178G>T (p.Asp2060Tyr) c.5731G>T (p.Asp1911Tyr) c.5068G>T (p.Asp1690Tyr) c.9583G>T (p.Asp3195Tyr) | |
5 | g.13752181C= | CA1528422933 | DNAH5 | c.10981G= (p.Asp3661=) c.10936G= (p.Asp3646=) c.11089G= (p.Asp3697=) c.9994G= (p.Asp3332=) c.6178G= (p.Asp2060=) c.5731G= (p.Asp1911=) c.5068G= (p.Asp1690=) c.9583G= (p.Asp3195=) | |
5 | g.13752181C>G | CA359189901 | DNAH5 | c.10981G>C (p.Asp3661His) c.10936G>C (p.Asp3646His) c.11089G>C (p.Asp3697His) c.9994G>C (p.Asp3332His) c.6178G>C (p.Asp2060His) c.5731G>C (p.Asp1911His) c.5068G>C (p.Asp1690His) c.9583G>C (p.Asp3195His) | COSMIC |
5 | g.13752181C>T | CA359189896 | DNAH5 | c.10981G>A (p.Asp3661Asn) c.10936G>A (p.Asp3646Asn) c.11089G>A (p.Asp3697Asn) c.9994G>A (p.Asp3332Asn) c.6178G>A (p.Asp2060Asn) c.5731G>A (p.Asp1911Asn) c.5068G>A (p.Asp1690Asn) c.9583G>A (p.Asp3195Asn) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13752182T>A | CA443248636 | DNAH5 | c.10980A>T (p.Leu3660=) c.10935A>T (p.Leu3645=) c.11088A>T (p.Leu3696=) c.9993A>T (p.Leu3331=) c.6177A>T (p.Leu2059=) c.5730A>T (p.Leu1910=) c.5067A>T (p.Leu1689=) c.9582A>T (p.Leu3194=) | |
5 | g.13752182T>C | CA443248637 | DNAH5 | c.10980A>G (p.Leu3660=) c.10935A>G (p.Leu3645=) c.11088A>G (p.Leu3696=) c.9993A>G (p.Leu3331=) c.6177A>G (p.Leu2059=) c.5730A>G (p.Leu1910=) c.5067A>G (p.Leu1689=) c.9582A>G (p.Leu3194=) | |
5 | g.13752182T>G | CA443248638 | DNAH5 | c.10980A>C (p.Leu3660=) c.10935A>C (p.Leu3645=) c.11088A>C (p.Leu3696=) c.9993A>C (p.Leu3331=) c.6177A>C (p.Leu2059=) c.5730A>C (p.Leu1910=) c.5067A>C (p.Leu1689=) c.9582A>C (p.Leu3194=) | |
5 | g.13752183A>C | CA359189902 | DNAH5 | c.10979T>G (p.Leu3660Arg) c.10934T>G (p.Leu3645Arg) c.11087T>G (p.Leu3696Arg) c.9992T>G (p.Leu3331Arg) c.6176T>G (p.Leu2059Arg) c.5729T>G (p.Leu1910Arg) c.5066T>G (p.Leu1689Arg) c.9581T>G (p.Leu3194Arg) | |
5 | g.13752183A>G | CA359189903 | DNAH5 | c.10979T>C (p.Leu3660Pro) c.10934T>C (p.Leu3645Pro) c.11087T>C (p.Leu3696Pro) c.9992T>C (p.Leu3331Pro) c.6176T>C (p.Leu2059Pro) c.5729T>C (p.Leu1910Pro) c.5066T>C (p.Leu1689Pro) c.9581T>C (p.Leu3194Pro) | |
5 | g.13752183A>T | CA359189906 | DNAH5 | c.10979T>A (p.Leu3660Gln) c.10934T>A (p.Leu3645Gln) c.11087T>A (p.Leu3696Gln) c.9992T>A (p.Leu3331Gln) c.6176T>A (p.Leu2059Gln) c.5729T>A (p.Leu1910Gln) c.5066T>A (p.Leu1689Gln) c.9581T>A (p.Leu3194Gln) | |
5 | g.13752184G>A | CA443248640 | DNAH5 | c.10978C>T (p.Leu3660=) c.10933C>T (p.Leu3645=) c.11086C>T (p.Leu3696=) c.9991C>T (p.Leu3331=) c.6175C>T (p.Leu2059=) c.5728C>T (p.Leu1910=) c.5065C>T (p.Leu1689=) c.9580C>T (p.Leu3194=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13752184G>C | CA359189909 | DNAH5 | c.10978C>G (p.Leu3660Val) c.10933C>G (p.Leu3645Val) c.11086C>G (p.Leu3696Val) c.9991C>G (p.Leu3331Val) c.6175C>G (p.Leu2059Val) c.5728C>G (p.Leu1910Val) c.5065C>G (p.Leu1689Val) c.9580C>G (p.Leu3194Val) | |
5 | g.13752184G= | CA1528422934 | DNAH5 | c.10978C= (p.Leu3660=) c.10933C= (p.Leu3645=) c.11086C= (p.Leu3696=) c.9991C= (p.Leu3331=) c.6175C= (p.Leu2059=) c.5728C= (p.Leu1910=) c.5065C= (p.Leu1689=) c.9580C= (p.Leu3194=) | |
5 | g.13752184G>T | CA359189912 | DNAH5 | c.10978C>A (p.Leu3660Ile) c.10933C>A (p.Leu3645Ile) c.11086C>A (p.Leu3696Ile) c.9991C>A (p.Leu3331Ile) c.6175C>A (p.Leu2059Ile) c.5728C>A (p.Leu1910Ile) c.5065C>A (p.Leu1689Ile) c.9580C>A (p.Leu3194Ile) |