Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21543087_21543591delinsGGCGCCCCG | CA2739266287 | DNAH11 | c.-159_346delinsGGCGCCCCG | ClinVar |
7 | g.21543349_21543367delinsTCGAGGAGGAGGAGGAGAA | CA1693537969 | DNAH11 | c.104_122delinsTCGAGGAGGAGGAGGAGAA (p.Leu35=) | |
7 | g.21543361_21543378dup | CA573292091 | DNAH11 | c.116_133dup (p.Glu44_Ala45insGluGluAsnGluGluGlu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543361_21543378del | CA1693537971 | DNAH11 | c.116_133del (p.Glu39_Glu44del) | dbSNP gnomAD v4 |
7 | g.21543363_21543365dup | CA454138892 | DNAH11 | c.118_120dup (p.Glu40_Asn41insGlu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543351_21543365dup | CA2681975860 | DNAH11 | c.106_120dup (p.Glu40_Asn41insGluGluGluGluGlu) | gnomAD v4 |
7 | g.21543363_21543365del | CA4178616 | DNAH11 | c.118_120del (p.Glu40del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543364_21543378dup | CA573292092 | DNAH11 | c.119_133dup (p.Glu44_Ala45insGluAsnGluGluGlu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543356_21543368delinsGGAGGAGGAGAAC | CA1693537977 | DNAH11 | c.111_123delinsGGAGGAGGAGAAC (p.Glu37=) | |
7 | g.21543366_21543377dup | CA573292093 | DNAH11 | c.121_132dup (p.Glu44_Ala45insAsnGluGluGlu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543366_21543377del | CA1693537978 | DNAH11 | c.121_132del (p.Asn41_Glu44del) | dbSNP gnomAD v4 |
7 | g.21543361_21543362del | CA2774673620 | DNAH11 | c.116_117del (p.Glu39GlyfsTer?) | |
7 | g.21543360_21543366dup | CA2681975861 | DNAH11 | c.115_121dup (p.Asn41ArgfsTer?) | gnomAD v4 |
7 | g.21543366_21543374dup | CA915944892 | DNAH11 | c.121_129dup (p.Glu43_Glu44insAsnGluGlu) | ClinVar dbSNP |
7 | g.21543361A>C | CA366931170 | DNAH11 | c.116A>C (p.Glu39Ala) | gnomAD v4 |
7 | g.21543361A>G | CA366931171 | DNAH11 | c.116A>G (p.Glu39Gly) | |
7 | g.21543361A>T | CA366931172 | DNAH11 | c.116A>T (p.Glu39Val) | |
7 | g.21543367_21543392del | CA2681975862 | DNAH11 | c.122_147del (p.Asn41SerfsTer?) | gnomAD v4 |
7 | g.21543362G>A | CA454138900 | DNAH11 | c.117G>A (p.Glu39=) | gnomAD v4 |
7 | g.21543362G>C | CA366931173 | DNAH11 | c.117G>C (p.Glu39Asp) | |
7 | g.21543362G>T | CA366931174 | DNAH11 | c.117G>T (p.Glu39Asp) | |
7 | g.21543364_21543381del | CA2681975863 | DNAH11 | c.119_136del (p.Glu40_Ala45del) | gnomAD v4 |
7 | g.21543363G>A | CA366931175 | DNAH11 | c.118G>A (p.Glu40Lys) | gnomAD v4 |
7 | g.21543363G>C | CA366931176 | DNAH11 | c.118G>C (p.Glu40Gln) | |
7 | g.21543363G= | CA1693537982 | DNAH11 | c.118G= (p.Glu40=) | |
7 | g.21543363G>T | CA366931177 | DNAH11 | c.118G>T (p.Glu40Ter) | |
7 | g.21543364A>C | CA366931178 | DNAH11 | c.119A>C (p.Glu40Ala) | |
7 | g.21543364A>G | CA366931179 | DNAH11 | c.119A>G (p.Glu40Gly) | |
7 | g.21543364A>T | CA366931180 | DNAH11 | c.119A>T (p.Glu40Val) | |
7 | g.21543365_21543367dup | CA836667814 | DNAH11 | c.120_122dup (p.Glu40_Asn41insLys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543365G>A | CA454138903 | DNAH11 | c.120G>A (p.Glu40=) | dbSNP gnomAD v2 |
7 | g.21543365G>C | CA366931181 | DNAH11 | c.120G>C (p.Glu40Asp) | |
7 | g.21543365G= | CA1693537983 | DNAH11 | c.120G= (p.Glu40=) | |
7 | g.21543365G>T | CA366931182 | DNAH11 | c.120G>T (p.Glu40Asp) | gnomAD v4 |
7 | g.21543366A>C | CA366931185 | DNAH11 | c.121A>C (p.Asn41His) | |
7 | g.21543366A>G | CA366931184 | DNAH11 | c.121A>G (p.Asn41Asp) | gnomAD v4 |
7 | g.21543366A>T | CA366931183 | DNAH11 | c.121A>T (p.Asn41Tyr) | |
7 | g.21543367A= | CA1693537984 | DNAH11 | c.122A= (p.Asn41=) | |
7 | g.21543367A>C | CA366931186 | DNAH11 | c.122A>C (p.Asn41Thr) | |
7 | g.21543367A>G | CA366931187 | DNAH11 | c.122A>G (p.Asn41Ser) | gnomAD v4 |
7 | g.21543367A>T | CA366931188 | DNAH11 | c.122A>T (p.Asn41Ile) | |
7 | g.21543368C>A | CA366931189 | DNAH11 | c.123C>A (p.Asn41Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543368C= | CA1693537985 | DNAH11 | c.123C= (p.Asn41=) | |
7 | g.21543368C>G | CA366931190 | DNAH11 | c.123C>G (p.Asn41Lys) | |
7 | g.21543368C>T | CA454138907 | DNAH11 | c.123C>T (p.Asn41=) | gnomAD v4 |
7 | g.21543368_21543371delinsCGAG | CA1693537986 | DNAH11 | c.123_126delinsCGAG (p.Asn41=) | |
7 | g.21543369_21543385dup | CA573292094 | DNAH11 | c.124_140dup (p.Ala50ArgfsTer25) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543369G>A | CA366931191 | DNAH11 | c.124G>A (p.Glu42Lys) | gnomAD v4 |
7 | g.21543369G>C | CA366931192 | DNAH11 | c.124G>C (p.Glu42Gln) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543369G= | CA1693537987 | DNAH11 | c.124G= (p.Glu42=) | |
7 | g.21543369G>T | CA366931193 | DNAH11 | c.124G>T (p.Glu42Ter) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543376_21543378dup | CA2681975864 | DNAH11 | c.131_133dup (p.Glu44_Ala45insGlu) | gnomAD v4 |
7 | g.21543376_21543378del | CA916082915 | DNAH11 | c.131_133del (p.Glu44del) | ClinVar dbSNP gnomAD v4 |
7 | g.21543370A= | CA1693537988 | DNAH11 | c.125A= (p.Glu42=) | |
7 | g.21543370A>C | CA366931194 | DNAH11 | c.125A>C (p.Glu42Ala) | |
7 | g.21543370A>G | CA366931195 | DNAH11 | c.125A>G (p.Glu42Gly) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543370A>T | CA366931196 | DNAH11 | c.125A>T (p.Glu42Val) | |
7 | g.21543371G>A | CA4178618 | DNAH11 | c.126G>A (p.Glu42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543371G>C | CA366931197 | DNAH11 | c.126G>C (p.Glu42Asp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543371G= | CA1693537989 | DNAH11 | c.126G= (p.Glu42=) | |
7 | g.21543371G>T | CA366931198 | DNAH11 | c.126G>T (p.Glu42Asp) | |
7 | g.21543372G>A | CA366931201 | DNAH11 | c.127G>A (p.Glu43Lys) | ClinVar COSMIC COSMIC |
7 | g.21543372G>C | CA366931200 | DNAH11 | c.127G>C (p.Glu43Gln) | ClinVar dbSNP |
7 | g.21543372G= | CA1693537990 | DNAH11 | c.127G= (p.Glu43=) | |
7 | g.21543372G>T | CA366931199 | DNAH11 | c.127G>T (p.Glu43Ter) | dbSNP |
7 | g.21543373A>C | CA366931202 | DNAH11 | c.128A>C (p.Glu43Ala) | |
7 | g.21543373A>G | CA366931203 | DNAH11 | c.128A>G (p.Glu43Gly) | gnomAD v4 |
7 | g.21543373A>T | CA366931204 | DNAH11 | c.128A>T (p.Glu43Val) | |
7 | g.21543374G>A | CA454138914 | DNAH11 | c.129G>A (p.Glu43=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543374G>C | CA366931205 | DNAH11 | c.129G>C (p.Glu43Asp) | |
7 | g.21543374G= | CA1693537991 | DNAH11 | c.129G= (p.Glu43=) | |
7 | g.21543374G>T | CA366931206 | DNAH11 | c.129G>T (p.Glu43Asp) | gnomAD v4 |
7 | g.21543375dup | CA2840902348 | DNAH11 | c.130dup (p.Glu44GlyfsTer?) | |
7 | g.21543375G>A | CA366931207 | DNAH11 | c.130G>A (p.Glu44Lys) | |
7 | g.21543375G>C | CA366931208 | DNAH11 | c.130G>C (p.Glu44Gln) | |
7 | g.21543375G= | CA1693537992 | DNAH11 | c.130G= (p.Glu44=) | |
7 | g.21543375G>T | CA366931209 | DNAH11 | c.130G>T (p.Glu44Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.21543376A= | CA1693537993 | DNAH11 | c.131A= (p.Glu44=) | |
7 | g.21543376A>C | CA4178619 | DNAH11 | c.131A>C (p.Glu44Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543376A>G | CA366931210 | DNAH11 | c.131A>G (p.Glu44Gly) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543376A>T | CA366931211 | DNAH11 | c.131A>T (p.Glu44Val) | dbSNP |
7 | g.21543377G>A | CA454138918 | DNAH11 | c.132G>A (p.Glu44=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543377G>C | CA366931212 | DNAH11 | c.132G>C (p.Glu44Asp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543377G= | CA1693537994 | DNAH11 | c.132G= (p.Glu44=) | |
7 | g.21543377G>T | CA366931213 | DNAH11 | c.132G>T (p.Glu44Asp) | gnomAD v4 |
7 | g.21543383_21543385dup | CA2593827568 | DNAH11 | c.138_140dup (p.Ala47_Arg48insAla) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543378G>A | CA4178620 | DNAH11 | c.133G>A (p.Ala45Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543378G>C | CA366931214 | DNAH11 | c.133G>C (p.Ala45Pro) | |
7 | g.21543378G= | CA1693537995 | DNAH11 | c.133G= (p.Ala45=) | |
7 | g.21543378G>T | CA366931215 | DNAH11 | c.133G>T (p.Ala45Ser) | gnomAD v4 |
7 | g.21543379C>A | CA366931216 | DNAH11 | c.134C>A (p.Ala45Glu) | gnomAD v4 COSMIC COSMIC |
7 | g.21543379C= | CA1693537996 | DNAH11 | c.134C= (p.Ala45=) | |
7 | g.21543379C>G | CA366931217 | DNAH11 | c.134C>G (p.Ala45Gly) | |
7 | g.21543379C>T | CA155057781 | DNAH11 | c.134C>T (p.Ala45Val) | dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.21543380G>A | CA454138919 | DNAH11 | c.135G>A (p.Ala45=) | |
7 | g.21543380G>C | CA454138920 | DNAH11 | c.135G>C (p.Ala45=) | |
7 | g.21543380G= | CA1693537997 | DNAH11 | c.135G= (p.Ala45=) | |
7 | g.21543380G>T | CA454138921 | DNAH11 | c.135G>T (p.Ala45=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543381G>A | CA366931218 | DNAH11 | c.136G>A (p.Ala46Thr) | |
7 | g.21543381G>C | CA155057790 | DNAH11 | c.136G>C (p.Ala46Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.21543381G= | CA1693537998 | DNAH11 | c.136G= (p.Ala46=) | |
7 | g.21543381G>T | CA366931219 | DNAH11 | c.136G>T (p.Ala46Ser) | |
7 | g.21543381_21543402dup | CA2740098053 | DNAH11 | c.136_157dup (p.Phe53CysfsTer?) | ClinVar |
7 | g.21543382C>A | CA366931220 | DNAH11 | c.137C>A (p.Ala46Glu) | gnomAD v4 |
7 | g.21543382C= | CA1693537999 | DNAH11 | c.137C= (p.Ala46=) | |
7 | g.21543382C>G | CA366931221 | DNAH11 | c.137C>G (p.Ala46Gly) | |
7 | g.21543382C>T | CA4178621 | DNAH11 | c.137C>T (p.Ala46Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543383G>A | CA155057816 | DNAH11 | c.138G>A (p.Ala46=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543383G>C | CA454138923 | DNAH11 | c.138G>C (p.Ala46=) | |
7 | g.21543383G= | CA1693538000 | DNAH11 | c.138G= (p.Ala46=) | |
7 | g.21543383G>T | CA454138922 | DNAH11 | c.138G>T (p.Ala46=) | |
7 | g.21543384G>A | CA366931222 | DNAH11 | c.139G>A (p.Ala47Thr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543384G>C | CA366931223 | DNAH11 | c.139G>C (p.Ala47Pro) | gnomAD v4 |
7 | g.21543384G= | CA1693538001 | DNAH11 | c.139G= (p.Ala47=) | |
7 | g.21543384G>T | CA366931224 | DNAH11 | c.139G>T (p.Ala47Ser) | gnomAD v4 |
7 | g.21543385C>A | CA366931225 | DNAH11 | c.140C>A (p.Ala47Asp) | gnomAD v4 |
7 | g.21543385C= | CA1693538002 | DNAH11 | c.140C= (p.Ala47=) | |
7 | g.21543385C>G | CA366931227 | DNAH11 | c.140C>G (p.Ala47Gly) | |
7 | g.21543385C>T | CA366931226 | DNAH11 | c.140C>T (p.Ala47Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543386C>A | CA454138926 | DNAH11 | c.141C>A (p.Ala47=) | |
7 | g.21543386C= | CA1693538003 | DNAH11 | c.141C= (p.Ala47=) | |
7 | g.21543386C>G | CA454138928 | DNAH11 | c.141C>G (p.Ala47=) | gnomAD v4 |
7 | g.21543386C>T | CA454138930 | DNAH11 | c.141C>T (p.Ala47=) | dbSNP |
7 | g.21543386_21543387insG | CA2774673621 | DNAH11 | c.141_142insG (p.Arg48GlufsTer?) | |
7 | g.21543387del | CA2681975865 | DNAH11 | c.142del (p.Arg48GlyfsTer21) | gnomAD v4 |
7 | g.21543387A>C | CA454138931 | DNAH11 | c.142A>C (p.Arg48=) | dbSNP |
7 | g.21543387A>G | CA366931228 | DNAH11 | c.142A>G (p.Arg48Gly) | gnomAD v4 |
7 | g.21543387A>T | CA366931229 | DNAH11 | c.142A>T (p.Arg48Trp) | gnomAD v4 |
7 | g.21543388G>A | CA366931230 | DNAH11 | c.143G>A (p.Arg48Lys) | dbSNP gnomAD v2 |
7 | g.21543388G>C | CA366931231 | DNAH11 | c.143G>C (p.Arg48Thr) | |
7 | g.21543388G= | CA1693538004 | DNAH11 | c.143G= (p.Arg48=) | |
7 | g.21543388G>T | CA366931232 | DNAH11 | c.143G>T (p.Arg48Met) | gnomAD v4 |
7 | g.21543389G>A | CA454138932 | DNAH11 | c.144G>A (p.Arg48=) | gnomAD v4 |
7 | g.21543389G>C | CA366931233 | DNAH11 | c.144G>C (p.Arg48Ser) | dbSNP |
7 | g.21543389G= | CA1693538005 | DNAH11 | c.144G= (p.Arg48=) | |
7 | g.21543389G>T | CA366931234 | DNAH11 | c.144G>T (p.Arg48Ser) | |
7 | g.21543390A= | CA1693538006 | DNAH11 | c.145A= (p.Arg49=) | |
7 | g.21543390A>C | CA454138935 | DNAH11 | c.145A>C (p.Arg49=) | dbSNP |
7 | g.21543390A>G | CA366931235 | DNAH11 | c.145A>G (p.Arg49Gly) | |
7 | g.21543390A>T | CA366931236 | DNAH11 | c.145A>T (p.Arg49Ter) | |
7 | g.21543391del | CA2774673622 | DNAH11 | c.146del (p.Arg49LysfsTer20) | |
7 | g.21543391G>A | CA366931237 | DNAH11 | c.146G>A (p.Arg49Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543391G>C | CA366931238 | DNAH11 | c.146G>C (p.Arg49Thr) | |
7 | g.21543391G= | CA1693538007 | DNAH11 | c.146G= (p.Arg49=) | |
7 | g.21543391G>T | CA366931239 | DNAH11 | c.146G>T (p.Arg49Ile) | |
7 | g.21543392A>C | CA366931240 | DNAH11 | c.147A>C (p.Arg49Ser) | |
7 | g.21543392A>G | CA454138936 | DNAH11 | c.147A>G (p.Arg49=) | |
7 | g.21543392A>T | CA366931241 | DNAH11 | c.147A>T (p.Arg49Ser) | |
7 | g.21543393G>A | CA366931244 | DNAH11 | c.148G>A (p.Ala50Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543393G>C | CA366931242 | DNAH11 | c.148G>C (p.Ala50Pro) | |
7 | g.21543393G= | CA1693538008 | DNAH11 | c.148G= (p.Ala50=) | |
7 | g.21543393G>T | CA366931243 | DNAH11 | c.148G>T (p.Ala50Ser) | |
7 | g.21543393_21543395del | CA2681975866 | DNAH11 | c.148_150del (p.Ala50del) | gnomAD v4 |
7 | g.21543394C>A | CA366931245 | DNAH11 | c.149C>A (p.Ala50Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543394C= | CA1693538009 | DNAH11 | c.149C= (p.Ala50=) | |
7 | g.21543394C>G | CA366931246 | DNAH11 | c.149C>G (p.Ala50Gly) | |
7 | g.21543394C>T | CA366931247 | DNAH11 | c.149C>T (p.Ala50Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543395G>A | CA454138938 | DNAH11 | c.150G>A (p.Ala50=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543395G>C | CA454138939 | DNAH11 | c.150G>C (p.Ala50=) | dbSNP gnomAD v2 |
7 | g.21543395G= | CA1693538010 | DNAH11 | c.150G= (p.Ala50=) | |
7 | g.21543395G>T | CA454138940 | DNAH11 | c.150G>T (p.Ala50=) | |
7 | g.21543396C>A | CA454138941 | DNAH11 | c.151C>A (p.Arg51=) | |
7 | g.21543396C>G | CA366931248 | DNAH11 | c.151C>G (p.Arg51Gly) | gnomAD v4 |
7 | g.21543396C>T | CA366931249 | DNAH11 | c.151C>T (p.Arg51Trp) | gnomAD v4 |
7 | g.21543397G>A | CA4178623 | DNAH11 | c.152G>A (p.Arg51Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21543397G>C | CA4178622 | DNAH11 | c.152G>C (p.Arg51Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543397G= | CA1693538011 | DNAH11 | c.152G= (p.Arg51=) | |
7 | g.21543397G>T | CA366931250 | DNAH11 | c.152G>T (p.Arg51Leu) | |
7 | g.21543398G>A | CA454138944 | DNAH11 | c.153G>A (p.Arg51=) | |
7 | g.21543398G>C | CA454138945 | DNAH11 | c.153G>C (p.Arg51=) | COSMIC COSMIC |
7 | g.21543398G>T | CA454138946 | DNAH11 | c.153G>T (p.Arg51=) | |
7 | g.21543399A>C | CA366931251 | DNAH11 | c.154A>C (p.Ser52Arg) | gnomAD v4 |
7 | g.21543399A>G | CA366931252 | DNAH11 | c.154A>G (p.Ser52Gly) | |
7 | g.21543399A>T | CA366931253 | DNAH11 | c.154A>T (p.Ser52Cys) | |
7 | g.21543400G>A | CA366931256 | DNAH11 | c.155G>A (p.Ser52Asn) | |
7 | g.21543400G>C | CA366931255 | DNAH11 | c.155G>C (p.Ser52Thr) | |
7 | g.21543400G>T | CA366931254 | DNAH11 | c.155G>T (p.Ser52Ile) | |
7 | g.21543401T>A | CA366931257 | DNAH11 | c.156T>A (p.Ser52Arg) | |
7 | g.21543401T>C | CA454138947 | DNAH11 | c.156T>C (p.Ser52=) | dbSNP gnomAD v4 |
7 | g.21543401T>G | CA366931258 | DNAH11 | c.156T>G (p.Ser52Arg) | |
7 | g.21543401T= | CA1693538012 | DNAH11 | c.156T= (p.Ser52=) | |
7 | g.21543402T>A | CA366931259 | DNAH11 | c.157T>A (p.Phe53Ile) | |
7 | g.21543402T>C | CA366931260 | DNAH11 | c.157T>C (p.Phe53Leu) | |
7 | g.21543402T>G | CA366931261 | DNAH11 | c.157T>G (p.Phe53Val) | |
7 | g.21543403T>A | CA366931262 | DNAH11 | c.158T>A (p.Phe53Tyr) | |
7 | g.21543403T>C | CA366931263 | DNAH11 | c.158T>C (p.Phe53Ser) | |
7 | g.21543403T>G | CA366931264 | DNAH11 | c.158T>G (p.Phe53Cys) | dbSNP |
7 | g.21543403T= | CA1693538013 | DNAH11 | c.158T= (p.Phe53=) | |
7 | g.21543404C>A | CA366931265 | DNAH11 | c.159C>A (p.Phe53Leu) | |
7 | g.21543404C= | CA1693538014 | DNAH11 | c.159C= (p.Phe53=) | |
7 | g.21543404C>G | CA366931266 | DNAH11 | c.159C>G (p.Phe53Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543404C>T | CA454138949 | DNAH11 | c.159C>T (p.Phe53=) | |
7 | g.21543405G>A | CA366931267 | DNAH11 | c.160G>A (p.Ala54Thr) | |
7 | g.21543405G>C | CA366931268 | DNAH11 | c.160G>C (p.Ala54Pro) | |
7 | g.21543405G>T | CA366931269 | DNAH11 | c.160G>T (p.Ala54Ser) | |
7 | g.21543406C>A | CA366931271 | DNAH11 | c.161C>A (p.Ala54Asp) | |
7 | g.21543406C= | CA1693538015 | DNAH11 | c.161C= (p.Ala54=) | |
7 | g.21543406C>G | CA366931270 | DNAH11 | c.161C>G (p.Ala54Gly) | |
7 | g.21543406C>T | CA4178624 | DNAH11 | c.161C>T (p.Ala54Val) | dbSNP ExAC gnomAD v4 |
7 | g.21543407C>A | CA454138951 | DNAH11 | c.162C>A (p.Ala54=) | |
7 | g.21543407C= | CA1693538016 | DNAH11 | c.162C= (p.Ala54=) | |
7 | g.21543407C>G | CA454138952 | DNAH11 | c.162C>G (p.Ala54=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543407C>T | CA454138953 | DNAH11 | c.162C>T (p.Ala54=) | |
7 | g.21543408C>A | CA366931272 | DNAH11 | c.163C>A (p.Gln55Lys) | |
7 | g.21543408C= | CA1693538017 | DNAH11 | c.163C= (p.Gln55=) | |
7 | g.21543408C>G | CA366931273 | DNAH11 | c.163C>G (p.Gln55Glu) | gnomAD v4 |
7 | g.21543408C>T | CA366931274 | DNAH11 | c.163C>T (p.Gln55Ter) | dbSNP |
7 | g.21543409_21543413del | CA2774673623 | DNAH11 | c.164_168del (p.Gln55ArgfsTer?) | |
7 | g.21543409A>C | CA366931275 | DNAH11 | c.164A>C (p.Gln55Pro) | |
7 | g.21543409A>G | CA366931276 | DNAH11 | c.164A>G (p.Gln55Arg) | |
7 | g.21543409A>T | CA366931277 | DNAH11 | c.164A>T (p.Gln55Leu) | |
7 | g.21543410del | CA2681975867 | DNAH11 | c.165del (p.Asp56ThrfsTer13) | gnomAD v4 |
7 | g.21543410A= | CA1693538018 | DNAH11 | c.165A= (p.Gln55=) | |
7 | g.21543410A>C | CA366931278 | DNAH11 | c.165A>C (p.Gln55His) | |
7 | g.21543410A>G | CA155057854 | DNAH11 | c.165A>G (p.Gln55=) | dbSNP gnomAD v4 |
7 | g.21543410A>T | CA366931279 | DNAH11 | c.165A>T (p.Gln55His) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543411G>A | CA366931280 | DNAH11 | c.166G>A (p.Asp56Asn) | |
7 | g.21543411G>C | CA366931281 | DNAH11 | c.166G>C (p.Asp56His) | |
7 | g.21543411G>T | CA366931282 | DNAH11 | c.166G>T (p.Asp56Tyr) | |
7 | g.21543412A>C | CA366931285 | DNAH11 | c.167A>C (p.Asp56Ala) | |
7 | g.21543412A>G | CA366931284 | DNAH11 | c.167A>G (p.Asp56Gly) | |
7 | g.21543412A>T | CA366931283 | DNAH11 | c.167A>T (p.Asp56Val) | |
7 | g.21543413C>A | CA366931286 | DNAH11 | c.168C>A (p.Asp56Glu) | |
7 | g.21543413C= | CA1693538019 | DNAH11 | c.168C= (p.Asp56=) | |
7 | g.21543413C>G | CA155057857 | DNAH11 | c.168C>G (p.Asp56Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543413C>T | CA454138874 | DNAH11 | c.168C>T (p.Asp56=) | gnomAD v4 |
7 | g.21543414G>A | CA366931287 | DNAH11 | c.169G>A (p.Ala57Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543414G>C | CA366931289 | DNAH11 | c.169G>C (p.Ala57Pro) | |
7 | g.21543414G= | CA1693538020 | DNAH11 | c.169G= (p.Ala57=) | |
7 | g.21543414G>T | CA366931288 | DNAH11 | c.169G>T (p.Ala57Ser) | |
7 | g.21543415C>A | CA366931290 | DNAH11 | c.170C>A (p.Ala57Glu) | gnomAD v4 |
7 | g.21543415C>G | CA366931291 | DNAH11 | c.170C>G (p.Ala57Gly) | ClinVar |
7 | g.21543415C>T | CA366931292 | DNAH11 | c.170C>T (p.Ala57Val) | gnomAD v4 |
7 | g.21543418_21543440del | CA2681975868 | DNAH11 | c.173_195del (p.Arg58ProfsTer?) | gnomAD v4 |
7 | g.21543416G>A | CA454138879 | DNAH11 | c.171G>A (p.Ala57=) | |
7 | g.21543416G>C | CA454138880 | DNAH11 | c.171G>C (p.Ala57=) | |
7 | g.21543416G>T | CA454138881 | DNAH11 | c.171G>T (p.Ala57=) | gnomAD v4 |
7 | g.21543417C>A | CA454138882 | DNAH11 | c.172C>A (p.Arg58=) | |
7 | g.21543417C= | CA1693538021 | DNAH11 | c.172C= (p.Arg58=) | |
7 | g.21543417C>G | CA366931293 | DNAH11 | c.172C>G (p.Arg58Gly) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543417C>T | CA366931294 | DNAH11 | c.172C>T (p.Arg58Trp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543418G>A | CA366931295 | DNAH11 | c.173G>A (p.Arg58Gln) | gnomAD v4 |
7 | g.21543418G>C | CA366931296 | DNAH11 | c.173G>C (p.Arg58Pro) | |
7 | g.21543418G= | CA1693538022 | DNAH11 | c.173G= (p.Arg58=) | |
7 | g.21543418G>T | CA366931297 | DNAH11 | c.173G>T (p.Arg58Leu) | dbSNP gnomAD v4 |
7 | g.21543420del | CA2580617881 | DNAH11 | c.175del (p.Val59CysfsTer10) | ClinVar |
7 | g.21543418_21543419insTCTT | CA2774673624 | DNAH11 | c.173_174insTCTT (p.Val59LeufsTer?) | |
7 | g.21543419G>A | CA454138884 | DNAH11 | c.174G>A (p.Arg58=) | ClinVar gnomAD v4 |
7 | g.21543419G>C | CA454138885 | DNAH11 | c.174G>C (p.Arg58=) | |
7 | g.21543419G>T | CA454138886 | DNAH11 | c.174G>T (p.Arg58=) | gnomAD v4 |
7 | g.21543420G>A | CA366931298 | DNAH11 | c.175G>A (p.Val59Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543420G>C | CA366931299 | DNAH11 | c.175G>C (p.Val59Leu) | dbSNP |
7 | g.21543420G= | CA1693538023 | DNAH11 | c.175G= (p.Val59=) | |
7 | g.21543420G>T | CA366931300 | DNAH11 | c.175G>T (p.Val59Leu) | gnomAD v4 |
7 | g.21543420_21543421insGCGAAAC | CA2774673625 | DNAH11 | c.175_176insGCGAAAC (p.Val59GlyfsTer?) | |
7 | g.21543421T>A | CA366931303 | DNAH11 | c.176T>A (p.Val59Glu) | |
7 | g.21543421T>C | CA366931302 | DNAH11 | c.176T>C (p.Val59Ala) | |
7 | g.21543421T>G | CA366931301 | DNAH11 | c.176T>G (p.Val59Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543421T= | CA1693538024 | DNAH11 | c.176T= (p.Val59=) | |
7 | g.21543421_21543422insCC | CA2774673626 | DNAH11 | c.176_177insCC (p.Phe61AlafsTer9) | |
7 | g.21543422G>A | CA454138890 | DNAH11 | c.177G>A (p.Val59=) | |
7 | g.21543422G>C | CA454138891 | DNAH11 | c.177G>C (p.Val59=) | |
7 | g.21543422G= | CA1693538025 | DNAH11 | c.177G= (p.Val59=) | |
7 | g.21543422G>T | CA4178625 | DNAH11 | c.177G>T (p.Val59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543423C>A | CA366931304 | DNAH11 | c.178C>A (p.Arg60Ser) | |
7 | g.21543423C= | CA1693538026 | DNAH11 | c.178C= (p.Arg60=) | |
7 | g.21543423C>G | CA366931305 | DNAH11 | c.178C>G (p.Arg60Gly) | dbSNP gnomAD v4 |
7 | g.21543423C>T | CA366931306 | DNAH11 | c.178C>T (p.Arg60Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543424G>A | CA155057865 | DNAH11 | c.179G>A (p.Arg60His) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543424G>C | CA4178626 | DNAH11 | c.179G>C (p.Arg60Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543424G= | CA1693538027 | DNAH11 | c.179G= (p.Arg60=) | |
7 | g.21543424G>T | CA366931307 | DNAH11 | c.179G>T (p.Arg60Leu) | |
7 | g.21543425C>A | CA454138893 | DNAH11 | c.180C>A (p.Arg60=) | gnomAD v4 |
7 | g.21543425C= | CA1693538028 | DNAH11 | c.180C= (p.Arg60=) | |
7 | g.21543425C>G | CA4178628 | DNAH11 | c.180C>G (p.Arg60=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543425C>T | CA4178627 | DNAH11 | c.180C>T (p.Arg60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543426T>A | CA366931308 | DNAH11 | c.181T>A (p.Phe61Ile) | |
7 | g.21543426T>C | CA366931309 | DNAH11 | c.181T>C (p.Phe61Leu) | |
7 | g.21543426T>G | CA366931310 | DNAH11 | c.181T>G (p.Phe61Val) | |
7 | g.21543426_21543427insC | CA2774673627 | DNAH11 | c.181_182insC (p.Phe61SerfsTer?) | |
7 | g.21543427T>A | CA366931313 | DNAH11 | c.182T>A (p.Phe61Tyr) | |
7 | g.21543427T>C | CA366931312 | DNAH11 | c.182T>C (p.Phe61Ser) | |
7 | g.21543427T>G | CA366931311 | DNAH11 | c.182T>G (p.Phe61Cys) | |
7 | g.21543428C>A | CA366931314 | DNAH11 | c.183C>A (p.Phe61Leu) | |
7 | g.21543428C= | CA1693538029 | DNAH11 | c.183C= (p.Phe61=) | |
7 | g.21543428C>G | CA366931315 | DNAH11 | c.183C>G (p.Phe61Leu) | |
7 | g.21543428C>T | CA4178629 | DNAH11 | c.183C>T (p.Phe61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543429C>A | CA366931316 | DNAH11 | c.184C>A (p.Leu62Ile) | |
7 | g.21543429C= | CA1693538030 | DNAH11 | c.184C= (p.Leu62=) | |
7 | g.21543429C>G | CA366931317 | DNAH11 | c.184C>G (p.Leu62Val) | |
7 | g.21543429C>T | CA366931318 | DNAH11 | c.184C>T (p.Leu62Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543430T>A | CA366931319 | DNAH11 | c.185T>A (p.Leu62His) | |
7 | g.21543430T>C | CA155057893 | DNAH11 | c.185T>C (p.Leu62Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543430T>G | CA366931320 | DNAH11 | c.185T>G (p.Leu62Arg) | |
7 | g.21543430T= | CA1693538031 | DNAH11 | c.185T= (p.Leu62=) | |
7 | g.21543431del | CA2774673628 | DNAH11 | c.186del (p.Gly63AlafsTer6) | |
7 | g.21543431C>A | CA454138897 | DNAH11 | c.186C>A (p.Leu62=) | dbSNP |
7 | g.21543431C= | CA1693538032 | DNAH11 | c.186C= (p.Leu62=) | |
7 | g.21543431C>G | CA454138898 | DNAH11 | c.186C>G (p.Leu62=) | |
7 | g.21543431C>T | CA454138899 | DNAH11 | c.186C>T (p.Leu62=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543432G>A | CA366931321 | DNAH11 | c.187G>A (p.Gly63Ser) | gnomAD v4 |
7 | g.21543432G>C | CA366931322 | DNAH11 | c.187G>C (p.Gly63Arg) | |
7 | g.21543432G>T | CA366931323 | DNAH11 | c.187G>T (p.Gly63Cys) | |
7 | g.21543433G>A | CA366931325 | DNAH11 | c.188G>A (p.Gly63Asp) | |
7 | g.21543433G>C | CA4178630 | DNAH11 | c.188G>C (p.Gly63Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543433G= | CA1693538033 | DNAH11 | c.188G= (p.Gly63=) | |
7 | g.21543433G>T | CA366931324 | DNAH11 | c.188G>T (p.Gly63Val) | |
7 | g.21543434C>A | CA454138902 | DNAH11 | c.189C>A (p.Gly63=) | |
7 | g.21543434C= | CA1693538034 | DNAH11 | c.189C= (p.Gly63=) | |
7 | g.21543434C>G | CA454138901 | DNAH11 | c.189C>G (p.Gly63=) | |
7 | g.21543434C>T | CA4178631 | DNAH11 | c.189C>T (p.Gly63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543435G>A | CA366931326 | DNAH11 | c.190G>A (p.Gly64Ser) | |
7 | g.21543435G>C | CA366931327 | DNAH11 | c.190G>C (p.Gly64Arg) | |
7 | g.21543435G>T | CA366931328 | DNAH11 | c.190G>T (p.Gly64Cys) | |
7 | g.21543436G>A | CA4178632 | DNAH11 | c.191G>A (p.Gly64Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21543436G>C | CA366931329 | DNAH11 | c.191G>C (p.Gly64Ala) | |
7 | g.21543436G= | CA1693538035 | DNAH11 | c.191G= (p.Gly64=) | |
7 | g.21543436G>T | CA366931330 | DNAH11 | c.191G>T (p.Gly64Val) | |
7 | g.21543437C>A | CA454138906 | DNAH11 | c.192C>A (p.Gly64=) | |
7 | g.21543437C>G | CA454138905 | DNAH11 | c.192C>G (p.Gly64=) | |
7 | g.21543437C>T | CA454138904 | DNAH11 | c.192C>T (p.Gly64=) | |
7 | g.21543438C>A | CA4178633 | DNAH11 | c.193C>A (p.Arg65Ser) | dbSNP ExAC gnomAD v4 |
7 | g.21543438C= | CA1693538036 | DNAH11 | c.193C= (p.Arg65=) | |
7 | g.21543438C>G | CA366931331 | DNAH11 | c.193C>G (p.Arg65Gly) | |
7 | g.21543438C>T | CA366931332 | DNAH11 | c.193C>T (p.Arg65Cys) | gnomAD v4 |
7 | g.21543439G>A | CA366931333 | DNAH11 | c.194G>A (p.Arg65His) | gnomAD v4 |
7 | g.21543439G>C | CA366931334 | DNAH11 | c.194G>C (p.Arg65Pro) | |
7 | g.21543439G= | CA1693538037 | DNAH11 | c.194G= (p.Arg65=) | |
7 | g.21543439G>T | CA366931335 | DNAH11 | c.194G>T (p.Arg65Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543440C>A | CA454138908 | DNAH11 | c.195C>A (p.Arg65=) | |
7 | g.21543440C= | CA1693538038 | DNAH11 | c.195C= (p.Arg65=) | |
7 | g.21543440C>G | CA454138909 | DNAH11 | c.195C>G (p.Arg65=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543440C>T | CA4178634 | DNAH11 | c.195C>T (p.Arg65=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543441C>A | CA366931337 | DNAH11 | c.196C>A (p.Leu66Met) | |
7 | g.21543441C>G | CA366931336 | DNAH11 | c.196C>G (p.Leu66Val) | |
7 | g.21543441C>T | CA454138910 | DNAH11 | c.196C>T (p.Leu66=) | gnomAD v4 |
7 | g.21543442T>A | CA366931338 | DNAH11 | c.197T>A (p.Leu66Gln) | |
7 | g.21543442T>C | CA366931339 | DNAH11 | c.197T>C (p.Leu66Pro) | dbSNP gnomAD v2 |
7 | g.21543442T>G | CA366931340 | DNAH11 | c.197T>G (p.Leu66Arg) | |
7 | g.21543442T= | CA1693538039 | DNAH11 | c.197T= (p.Leu66=) | |
7 | g.21543442dup | CA2681975869 | DNAH11 | c.197dup (p.Ala67GlyfsTer?) | gnomAD v4 |
7 | g.21543443G>A | CA454138911 | DNAH11 | c.198G>A (p.Leu66=) | |
7 | g.21543443G>C | CA454138912 | DNAH11 | c.198G>C (p.Leu66=) | |
7 | g.21543443G>T | CA454138913 | DNAH11 | c.198G>T (p.Leu66=) | |
7 | g.21543444G>A | CA366931341 | DNAH11 | c.199G>A (p.Ala67Thr) | |
7 | g.21543444G>C | CA366931342 | DNAH11 | c.199G>C (p.Ala67Pro) | |
7 | g.21543444G>T | CA366931343 | DNAH11 | c.199G>T (p.Ala67Ser) | |
7 | g.21543445C>A | CA155057915 | DNAH11 | c.200C>A (p.Ala67Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543445C= | CA1693538040 | DNAH11 | c.200C= (p.Ala67=) | |
7 | g.21543445C>G | CA366931344 | DNAH11 | c.200C>G (p.Ala67Gly) | |
7 | g.21543445C>T | CA366931345 | DNAH11 | c.200C>T (p.Ala67Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543446G>A | CA454138915 | DNAH11 | c.201G>A (p.Ala67=) n.1G>A | ClinVar gnomAD v4 |
7 | g.21543446G>C | CA454138916 | DNAH11 | c.201G>C (p.Ala67=) n.1G>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543446G= | CA1693538041 | DNAH11 | c.201G= (p.Ala67=) n.1G= | |
7 | g.21543446G>T | CA454138917 | DNAH11 | c.201G>T (p.Ala67=) n.1G>T | |
7 | g.21543447A= | CA1693538042 | DNAH11 | c.202A= (p.Met68=) n.2A= | |
7 | g.21543447A>C | CA366931346 | DNAH11 | c.202A>C (p.Met68Leu) n.2A>C | |
7 | g.21543447A>G | CA155057916 | DNAH11 | c.202A>G (p.Met68Val) n.2A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543447A>T | CA366931347 | DNAH11 | c.202A>T (p.Met68Leu) n.2A>T | |
7 | g.21543448T>A | CA366931350 | DNAH11 | c.203T>A (p.Met68Lys) n.3T>A | |
7 | g.21543448T>C | CA366931349 | DNAH11 | c.203T>C (p.Met68Thr) n.3T>C | gnomAD v4 |
7 | g.21543448T>G | CA366931348 | DNAH11 | c.203T>G (p.Met68Arg) n.3T>G | |
7 | g.21543449G>A | CA366931351 | DNAH11 | c.204G>A (p.Met68Ile) n.4G>A | |
7 | g.21543449G>C | CA366931352 | DNAH11 | c.204G>C (p.Met68Ile) n.4G>C | |
7 | g.21543449G= | CA1693538043 | DNAH11 | c.204G= (p.Met68=) n.4G= | |
7 | g.21543449G>T | CA366931353 | DNAH11 | c.204G>T (p.Met68Ile) n.4G>T | dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.21543450A>C | CA366931354 | DNAH11 | c.205A>C (p.Met69Leu) n.5A>C | |
7 | g.21543450A>G | CA366931355 | DNAH11 | c.205A>G (p.Met69Val) n.5A>G | dbSNP |
7 | g.21543450A>T | CA366931356 | DNAH11 | c.205A>T (p.Met69Leu) n.5A>T | |
7 | g.21543451T>A | CA366931357 | DNAH11 | c.206T>A (p.Met69Lys) n.6T>A | |
7 | g.21543451T>C | CA366931358 | DNAH11 | c.206T>C (p.Met69Thr) n.6T>C | |
7 | g.21543451T>G | CA366931359 | DNAH11 | c.206T>G (p.Met69Arg) n.6T>G | |
7 | g.21543452G>A | CA4178635 | DNAH11 | c.207G>A (p.Met69Ile) n.7G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21543452G>C | CA366931360 | DNAH11 | c.207G>C (p.Met69Ile) n.7G>C | |
7 | g.21543452G= | CA1693538044 | DNAH11 | c.207G= (p.Met69=) n.7G= | |
7 | g.21543452G>T | CA366931361 | DNAH11 | c.207G>T (p.Met69Ile) n.7G>T | gnomAD v4 |
7 | g.21543453C>A | CA4178636 | DNAH11 | c.208C>A (p.Leu70Met) n.8C>A | dbSNP ExAC gnomAD v2 |
7 | g.21543453C= | CA1693538045 | DNAH11 | c.208C= (p.Leu70=) n.8C= | |
7 | g.21543453C>G | CA366931362 | DNAH11 | c.208C>G (p.Leu70Val) n.8C>G | |
7 | g.21543453C>T | CA454138924 | DNAH11 | c.208C>T (p.Leu70=) n.8C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21543454T>A | CA366931364 | DNAH11 | c.209T>A (p.Leu70Gln) n.9T>A | |
7 | g.21543454T>C | CA366931365 | DNAH11 | c.209T>C (p.Leu70Pro) n.9T>C | |
7 | g.21543454T>G | CA366931363 | DNAH11 | c.209T>G (p.Leu70Arg) n.9T>G | |
7 | g.21543455G>A | CA454138925 | DNAH11 | c.210G>A (p.Leu70=) n.10G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21543455G>C | CA454138927 | DNAH11 | c.210G>C (p.Leu70=) n.10G>C | |
7 | g.21543455G= | CA1693538046 | DNAH11 | c.210G= (p.Leu70=) n.10G= | |
7 | g.21543455G>T | CA454138929 | DNAH11 | c.210G>T (p.Leu70=) n.10G>T | |
7 | g.21543458dup | CA2838509032 | DNAH11 | c.213dup (p.Phe72ValfsTer?) n.13dup | |
7 | g.21543456G>A | CA366931366 | DNAH11 | c.211G>A (p.Gly71Arg) n.11G>A | gnomAD v4 |
7 | g.21543456G>C | CA366931367 | DNAH11 | c.211G>C (p.Gly71Arg) n.11G>C | dbSNP gnomAD v2 |
7 | g.21543456G= | CA1693538047 | DNAH11 | c.211G= (p.Gly71=) n.11G= | |
7 | g.21543456G>T | CA366931368 | DNAH11 | c.211G>T (p.Gly71Trp) n.11G>T | gnomAD v4 |
7 | g.21543457G>A | CA4178637 | DNAH11 | c.212G>A (p.Gly71Glu) n.12G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543457G>C | CA155057929 | DNAH11 | c.212G>C (p.Gly71Ala) n.12G>C | dbSNP |
7 | g.21543457G= | CA1693538048 | DNAH11 | c.212G= (p.Gly71=) n.12G= | |
7 | g.21543457G>T | CA366931369 | DNAH11 | c.212G>T (p.Gly71Val) n.12G>T | gnomAD v4 |
7 | g.21543458G>A | CA454138933 | DNAH11 | c.213G>A (p.Gly71=) n.13G>A | gnomAD v4 |
7 | g.21543458G>C | CA454138934 | DNAH11 | c.213G>C (p.Gly71=) n.13G>C | |
7 | g.21543458G= | CA1693538049 | DNAH11 | c.213G= (p.Gly71=) n.13G= | |
7 | g.21543458G>T | CA4178638 | DNAH11 | c.213G>T (p.Gly71=) n.13G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21543459T>A | CA366931370 | DNAH11 | c.214T>A (p.Phe72Ile) n.14T>A | |
7 | g.21543459T>C | CA366931371 | DNAH11 | c.214T>C (p.Phe72Leu) n.14T>C | gnomAD v4 |
7 | g.21543459T>G | CA366931372 | DNAH11 | c.214T>G (p.Phe72Val) n.14T>G | |
7 | g.21543460T>A | CA366931373 | DNAH11 | c.215T>A (p.Phe72Tyr) n.15T>A | |
7 | g.21543460T>C | CA366931374 | DNAH11 | c.215T>C (p.Phe72Ser) n.15T>C | |
7 | g.21543460T>G | CA366931375 | DNAH11 | c.215T>G (p.Phe72Cys) n.15T>G | |
7 | g.21543461C>A | CA366931376 | DNAH11 | c.216C>A (p.Phe72Leu) n.16C>A | |
7 | g.21543461C>G | CA366931377 | DNAH11 | c.216C>G (p.Phe72Leu) n.16C>G | |
7 | g.21543461C>T | CA454138937 | DNAH11 | c.216C>T (p.Phe72=) n.16C>T | ClinVar |