Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13870679_13870752dup | CA2592520550 | DNAH5 | c.3834+15_3834+88dup (n.3834+15_3834+88dup) c.3789+15_3789+88dup (n.3789+15_3789+88dup) n.4041+15_4041+88dup c.3942+15_3942+88dup (n.3942+15_3942+88dup) c.2847+15_2847+88dup (n.2847+15_2847+88dup) c.2436+15_2436+88dup (n.2436+15_2436+88dup) n.3959+15_3959+88dup | gnomAD v3 gnomAD v4 |
5 | g.13870708_13870739del | CA2673276412 | DNAH5 | c.3834+36_3834+67del (n.3834+36_3834+67del) c.3789+36_3789+67del (n.3789+36_3789+67del) n.4041+36_4041+67del c.3942+36_3942+67del (n.3942+36_3942+67del) c.2847+36_2847+67del (n.2847+36_2847+67del) c.2436+36_2436+67del (n.2436+36_2436+67del) n.3959+36_3959+67del | gnomAD v4 |
5 | g.13870741_13870742insCATGTTGGATGCTATTAGCTGAAATATTTCTA | CA2673276427 | DNAH5 | c.3834+37_3834+38insAGCTAATAGCATCCAACATGTAGAAATATTTC (n.3834+37_3834+38insAGCTAATAGCATCCAACATGTAGAAATATTTC) c.3789+37_3789+38insAGCTAATAGCATCCAACATGTAGAAATATTTC (n.3789+37_3789+38insAGCTAATAGCATCCAACATGTAGAAATATTTC) n.4041+37_4041+38insAGCTAATAGCATCCAACATGTAGAAATATTTC c.3942+37_3942+38insAGCTAATAGCATCCAACATGTAGAAATATTTC (n.3942+37_3942+38insAGCTAATAGCATCCAACATGTAGAAATATTTC) c.2847+37_2847+38insAGCTAATAGCATCCAACATGTAGAAATATTTC (n.2847+37_2847+38insAGCTAATAGCATCCAACATGTAGAAATATTTC) c.2436+37_2436+38insAGCTAATAGCATCCAACATGTAGAAATATTTC (n.2436+37_2436+38insAGCTAATAGCATCCAACATGTAGAAATATTTC) n.3959+37_3959+38insAGCTAATAGCATCCAACATGTAGAAATATTTC | gnomAD v4 |
5 | g.13870736_13870743del | CA2578270839 | DNAH5 | c.3834+27_3834+34del (n.3834+27_3834+34del) c.3789+27_3789+34del (n.3789+27_3789+34del) n.4041+27_4041+34del c.3942+27_3942+34del (n.3942+27_3942+34del) c.2847+27_2847+34del (n.2847+27_2847+34del) c.2436+27_2436+34del (n.2436+27_2436+34del) n.3959+27_3959+34del | |
5 | g.13870736T>C | CA3204167 | DNAH5 | c.3834+31A>G (n.3834+31A>G) c.3789+31A>G (n.3789+31A>G) n.4041+31A>G c.3942+31A>G (n.3942+31A>G) c.2847+31A>G (n.2847+31A>G) c.2436+31A>G (n.2436+31A>G) n.3959+31A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870736T= | CA1528476278 | DNAH5 | c.3834+31A= (n.3834+31A=) c.3789+31A= (n.3789+31A=) n.4041+31A= c.3942+31A= (n.3942+31A=) c.2847+31A= (n.2847+31A=) c.2436+31A= (n.2436+31A=) n.3959+31A= | |
5 | g.13870737T>G | CA2765350515 | DNAH5 | c.3834+30A>C (n.3834+30A>C) c.3789+30A>C (n.3789+30A>C) n.4041+30A>C c.3942+30A>C (n.3942+30A>C) c.2847+30A>C (n.2847+30A>C) c.2436+30A>C (n.2436+30A>C) n.3959+30A>C | |
5 | g.13870738T>C | CA2578270840 | DNAH5 | c.3834+29A>G (n.3834+29A>G) c.3789+29A>G (n.3789+29A>G) n.4041+29A>G c.3942+29A>G (n.3942+29A>G) c.2847+29A>G (n.2847+29A>G) c.2436+29A>G (n.2436+29A>G) n.3959+29A>G | |
5 | g.13870739C>A | CA2673276429 | DNAH5 | c.3834+28G>T (n.3834+28G>T) c.3789+28G>T (n.3789+28G>T) n.4041+28G>T c.3942+28G>T (n.3942+28G>T) c.2847+28G>T (n.2847+28G>T) c.2436+28G>T (n.2436+28G>T) n.3959+28G>T | gnomAD v4 |
5 | g.13870739C= | CA1528476279 | DNAH5 | c.3834+28G= (n.3834+28G=) c.3789+28G= (n.3789+28G=) n.4041+28G= c.3942+28G= (n.3942+28G=) c.2847+28G= (n.2847+28G=) c.2436+28G= (n.2436+28G=) n.3959+28G= | |
5 | g.13870739C>T | CA1528476280 | DNAH5 | c.3834+28G>A (n.3834+28G>A) c.3789+28G>A (n.3789+28G>A) n.4041+28G>A c.3942+28G>A (n.3942+28G>A) c.2847+28G>A (n.2847+28G>A) c.2436+28G>A (n.2436+28G>A) n.3959+28G>A | dbSNP |
5 | g.13870740T>C | CA1528476283 | DNAH5 | c.3834+27A>G (n.3834+27A>G) c.3789+27A>G (n.3789+27A>G) n.4041+27A>G c.3942+27A>G (n.3942+27A>G) c.2847+27A>G (n.2847+27A>G) c.2436+27A>G (n.2436+27A>G) n.3959+27A>G | dbSNP |
5 | g.13870740T= | CA1528476282 | DNAH5 | c.3834+27A= (n.3834+27A=) c.3789+27A= (n.3789+27A=) n.4041+27A= c.3942+27A= (n.3942+27A=) c.2847+27A= (n.2847+27A=) c.2436+27A= (n.2436+27A=) n.3959+27A= | |
5 | g.13870741A>G | CA2578270841 | DNAH5 | c.3834+26T>C (n.3834+26T>C) c.3789+26T>C (n.3789+26T>C) n.4041+26T>C c.3942+26T>C (n.3942+26T>C) c.2847+26T>C (n.2847+26T>C) c.2436+26T>C (n.2436+26T>C) n.3959+26T>C | gnomAD v4 |
5 | g.13870742T>C | CA2578270842 | DNAH5 | c.3834+25A>G (n.3834+25A>G) c.3789+25A>G (n.3789+25A>G) n.4041+25A>G c.3942+25A>G (n.3942+25A>G) c.2847+25A>G (n.2847+25A>G) c.2436+25A>G (n.2436+25A>G) n.3959+25A>G | gnomAD v4 |
5 | g.13870746G>A | CA557876740 | DNAH5 | c.3834+21C>T (n.3834+21C>T) c.3789+21C>T (n.3789+21C>T) n.4041+21C>T c.3942+21C>T (n.3942+21C>T) c.2847+21C>T (n.2847+21C>T) c.2436+21C>T (n.2436+21C>T) n.3959+21C>T | dbSNP gnomAD v2 |
5 | g.13870746G>C | CA113981152 | DNAH5 | c.3834+21C>G (n.3834+21C>G) c.3789+21C>G (n.3789+21C>G) n.4041+21C>G c.3942+21C>G (n.3942+21C>G) c.2847+21C>G (n.2847+21C>G) c.2436+21C>G (n.2436+21C>G) n.3959+21C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870746G= | CA1528476285 | DNAH5 | c.3834+21C= (n.3834+21C=) c.3789+21C= (n.3789+21C=) n.4041+21C= c.3942+21C= (n.3942+21C=) c.2847+21C= (n.2847+21C=) c.2436+21C= (n.2436+21C=) n.3959+21C= | |
5 | g.13870746G>T | CA2673276430 | DNAH5 | c.3834+21C>A (n.3834+21C>A) c.3789+21C>A (n.3789+21C>A) n.4041+21C>A c.3942+21C>A (n.3942+21C>A) c.2847+21C>A (n.2847+21C>A) c.2436+21C>A (n.2436+21C>A) n.3959+21C>A | gnomAD v4 |
5 | g.13870747A>G | CA2765350516 | DNAH5 | c.3834+20T>C (n.3834+20T>C) c.3789+20T>C (n.3789+20T>C) n.4041+20T>C c.3942+20T>C (n.3942+20T>C) c.2847+20T>C (n.2847+20T>C) c.2436+20T>C (n.2436+20T>C) n.3959+20T>C | |
5 | g.13870748A= | CA1528476286 | DNAH5 | c.3834+19T= (n.3834+19T=) c.3789+19T= (n.3789+19T=) n.4041+19T= c.3942+19T= (n.3942+19T=) c.2847+19T= (n.2847+19T=) c.2436+19T= (n.2436+19T=) n.3959+19T= | |
5 | g.13870748A>C | CA557876741 | DNAH5 | c.3834+19T>G (n.3834+19T>G) c.3789+19T>G (n.3789+19T>G) n.4041+19T>G c.3942+19T>G (n.3942+19T>G) c.2847+19T>G (n.2847+19T>G) c.2436+19T>G (n.2436+19T>G) n.3959+19T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870750A>T | CA2673276432 | DNAH5 | c.3834+17T>A (n.3834+17T>A) c.3789+17T>A (n.3789+17T>A) n.4041+17T>A c.3942+17T>A (n.3942+17T>A) c.2847+17T>A (n.2847+17T>A) c.2436+17T>A (n.2436+17T>A) n.3959+17T>A | gnomAD v4 |
5 | g.13870752dup | CA2673276431 | DNAH5 | c.3834+17dup (n.3834+17dup) c.3789+17dup (n.3789+17dup) n.4041+17dup c.3942+17dup (n.3942+17dup) c.2847+17dup (n.2847+17dup) c.2436+17dup (n.2436+17dup) n.3959+17dup | gnomAD v4 |
5 | g.13870752A= | CA1528476287 | DNAH5 | c.3834+15T= (n.3834+15T=) c.3789+15T= (n.3789+15T=) n.4041+15T= c.3942+15T= (n.3942+15T=) c.2847+15T= (n.2847+15T=) c.2436+15T= (n.2436+15T=) n.3959+15T= | |
5 | g.13870752A>C | CA3204168 | DNAH5 | c.3834+15T>G (n.3834+15T>G) c.3789+15T>G (n.3789+15T>G) n.4041+15T>G c.3942+15T>G (n.3942+15T>G) c.2847+15T>G (n.2847+15T>G) c.2436+15T>G (n.2436+15T>G) n.3959+15T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870753T>C | CA113981165 | DNAH5 | c.3834+14A>G (n.3834+14A>G) c.3789+14A>G (n.3789+14A>G) n.4041+14A>G c.3942+14A>G (n.3942+14A>G) c.2847+14A>G (n.2847+14A>G) c.2436+14A>G (n.2436+14A>G) n.3959+14A>G | dbSNP gnomAD v4 |
5 | g.13870753T= | CA1528476288 | DNAH5 | c.3834+14A= (n.3834+14A=) c.3789+14A= (n.3789+14A=) n.4041+14A= c.3942+14A= (n.3942+14A=) c.2847+14A= (n.2847+14A=) c.2436+14A= (n.2436+14A=) n.3959+14A= | |
5 | g.13870754G>T | CA2673276433 | DNAH5 | c.3834+13C>A (n.3834+13C>A) c.3789+13C>A (n.3789+13C>A) n.4041+13C>A c.3942+13C>A (n.3942+13C>A) c.2847+13C>A (n.2847+13C>A) c.2436+13C>A (n.2436+13C>A) n.3959+13C>A | gnomAD v4 |
5 | g.13870755A>C | CA2578270843 | DNAH5 | c.3834+12T>G (n.3834+12T>G) c.3789+12T>G (n.3789+12T>G) n.4041+12T>G c.3942+12T>G (n.3942+12T>G) c.2847+12T>G (n.2847+12T>G) c.2436+12T>G (n.2436+12T>G) n.3959+12T>G | |
5 | g.13870755A>T | CA2739274633 | DNAH5 | c.3834+12T>A (n.3834+12T>A) c.3789+12T>A (n.3789+12T>A) n.4041+12T>A c.3942+12T>A (n.3942+12T>A) c.2847+12T>A (n.2847+12T>A) c.2436+12T>A (n.2436+12T>A) n.3959+12T>A | ClinVar |
5 | g.13870760_13870761insTGTTCATT | CA2673276434 | DNAH5 | c.3834+11_3834+12insACAAATGA (n.3834+11_3834+12insACAAATGA) c.3789+11_3789+12insACAAATGA (n.3789+11_3789+12insACAAATGA) n.4041+11_4041+12insACAAATGA c.3942+11_3942+12insACAAATGA (n.3942+11_3942+12insACAAATGA) c.2847+11_2847+12insACAAATGA (n.2847+11_2847+12insACAAATGA) c.2436+11_2436+12insACAAATGA (n.2436+11_2436+12insACAAATGA) n.3959+11_3959+12insACAAATGA | gnomAD v4 |
5 | g.13870757C>A | CA2673276435 | DNAH5 | c.3834+10G>T (n.3834+10G>T) c.3789+10G>T (n.3789+10G>T) n.4041+10G>T c.3942+10G>T (n.3942+10G>T) c.2847+10G>T (n.2847+10G>T) c.2436+10G>T (n.2436+10G>T) n.3959+10G>T | gnomAD v4 |
5 | g.13870757C= | CA1528476290 | DNAH5 | c.3834+10G= (n.3834+10G=) c.3789+10G= (n.3789+10G=) n.4041+10G= c.3942+10G= (n.3942+10G=) c.2847+10G= (n.2847+10G=) c.2436+10G= (n.2436+10G=) n.3959+10G= | |
5 | g.13870757C>G | CA3204169 | DNAH5 | c.3834+10G>C (n.3834+10G>C) c.3789+10G>C (n.3789+10G>C) n.4041+10G>C c.3942+10G>C (n.3942+10G>C) c.2847+10G>C (n.2847+10G>C) c.2436+10G>C (n.2436+10G>C) n.3959+10G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870757C>T | CA2573138497 | DNAH5 | c.3834+10G>A (n.3834+10G>A) c.3789+10G>A (n.3789+10G>A) n.4041+10G>A c.3942+10G>A (n.3942+10G>A) c.2847+10G>A (n.2847+10G>A) c.2436+10G>A (n.2436+10G>A) n.3959+10G>A | ClinVar dbSNP gnomAD v4 |
5 | g.13870759T>C | CA3204170 | DNAH5 | c.3834+8A>G (n.3834+8A>G) c.3789+8A>G (n.3789+8A>G) n.4041+8A>G c.3942+8A>G (n.3942+8A>G) c.2847+8A>G (n.2847+8A>G) c.2436+8A>G (n.2436+8A>G) n.3959+8A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870759T>G | CA2739274634 | DNAH5 | c.3834+8A>C (n.3834+8A>C) c.3789+8A>C (n.3789+8A>C) n.4041+8A>C c.3942+8A>C (n.3942+8A>C) c.2847+8A>C (n.2847+8A>C) c.2436+8A>C (n.2436+8A>C) n.3959+8A>C | ClinVar |
5 | g.13870759T= | CA1528476291 | DNAH5 | c.3834+8A= (n.3834+8A=) c.3789+8A= (n.3789+8A=) n.4041+8A= c.3942+8A= (n.3942+8A=) c.2847+8A= (n.2847+8A=) c.2436+8A= (n.2436+8A=) n.3959+8A= | |
5 | g.13870760T>C | CA2499217645 | DNAH5 | c.3834+7A>G (n.3834+7A>G) c.3789+7A>G (n.3789+7A>G) n.4041+7A>G c.3942+7A>G (n.3942+7A>G) c.2847+7A>G (n.2847+7A>G) c.2436+7A>G (n.2436+7A>G) n.3959+7A>G | ClinVar dbSNP gnomAD v4 |
5 | g.13870761A>T | CA2673276436 | DNAH5 | c.3834+6T>A (n.3834+6T>A) c.3789+6T>A (n.3789+6T>A) n.4041+6T>A c.3942+6T>A (n.3942+6T>A) c.2847+6T>A (n.2847+6T>A) c.2436+6T>A (n.2436+6T>A) n.3959+6T>A | gnomAD v4 |
5 | g.13870762G>A | CA1073408386 | DNAH5 | c.3834+5C>T (n.3834+5C>T) c.3789+5C>T (n.3789+5C>T) n.4041+5C>T c.3942+5C>T (n.3942+5C>T) c.2847+5C>T (n.2847+5C>T) c.2436+5C>T (n.2436+5C>T) n.3959+5C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870762G= | CA1528476293 | DNAH5 | c.3834+5C= (n.3834+5C=) c.3789+5C= (n.3789+5C=) n.4041+5C= c.3942+5C= (n.3942+5C=) c.2847+5C= (n.2847+5C=) c.2436+5C= (n.2436+5C=) n.3959+5C= | |
5 | g.13870762G>T | CA2673276437 | DNAH5 | c.3834+5C>A (n.3834+5C>A) c.3789+5C>A (n.3789+5C>A) n.4041+5C>A c.3942+5C>A (n.3942+5C>A) c.2847+5C>A (n.2847+5C>A) c.2436+5C>A (n.2436+5C>A) n.3959+5C>A | gnomAD v4 |
5 | g.13870765A>C | CA359231152 | DNAH5 | c.3834+2T>G (n.3834+2T>G) c.3789+2T>G (n.3789+2T>G) n.4041+2T>G c.3942+2T>G (n.3942+2T>G) c.2847+2T>G (n.2847+2T>G) c.2436+2T>G (n.2436+2T>G) n.3959+2T>G | |
5 | g.13870765A>G | CA359231155 | DNAH5 | c.3834+2T>C (n.3834+2T>C) c.3789+2T>C (n.3789+2T>C) n.4041+2T>C c.3942+2T>C (n.3942+2T>C) c.2847+2T>C (n.2847+2T>C) c.2436+2T>C (n.2436+2T>C) n.3959+2T>C | |
5 | g.13870765A>T | CA359231157 | DNAH5 | c.3834+2T>A (n.3834+2T>A) c.3789+2T>A (n.3789+2T>A) n.4041+2T>A c.3942+2T>A (n.3942+2T>A) c.2847+2T>A (n.2847+2T>A) c.2436+2T>A (n.2436+2T>A) n.3959+2T>A | |
5 | g.13870766C>A | CA359231158 | DNAH5 | c.3834+1G>T (n.3834+1G>T) c.3789+1G>T (n.3789+1G>T) n.4041+1G>T c.3942+1G>T (n.3942+1G>T) c.2847+1G>T (n.2847+1G>T) c.2436+1G>T (n.2436+1G>T) n.3959+1G>T | |
5 | g.13870766C>G | CA359231159 | DNAH5 | c.3834+1G>C (n.3834+1G>C) c.3789+1G>C (n.3789+1G>C) n.4041+1G>C c.3942+1G>C (n.3942+1G>C) c.2847+1G>C (n.2847+1G>C) c.2436+1G>C (n.2436+1G>C) n.3959+1G>C | |
5 | g.13870766C>T | CA359231160 | DNAH5 | c.3834+1G>A (n.3834+1G>A) c.3789+1G>A (n.3789+1G>A) n.4041+1G>A c.3942+1G>A (n.3942+1G>A) c.2847+1G>A (n.2847+1G>A) c.2436+1G>A (n.2436+1G>A) n.3959+1G>A | ClinVar |
5 | g.13870767C>A | CA359231161 | DNAH5 | c.3834G>T (p.Glu1278Asp) c.3789G>T (p.Glu1263Asp) n.4041G>T c.3942G>T (p.Glu1314Asp) c.2847G>T (p.Glu949Asp) c.2436G>T (p.Glu812Asp) n.3959G>T | |
5 | g.13870767C= | CA1528476294 | DNAH5 | c.3834G= (p.Glu1278=) c.3789G= (p.Glu1263=) n.4041G= c.3942G= (p.Glu1314=) c.2847G= (p.Glu949=) c.2436G= (p.Glu812=) n.3959G= | |
5 | g.13870767C>G | CA359231164 | DNAH5 | c.3834G>C (p.Glu1278Asp) c.3789G>C (p.Glu1263Asp) n.4041G>C c.3942G>C (p.Glu1314Asp) c.2847G>C (p.Glu949Asp) c.2436G>C (p.Glu812Asp) n.3959G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870767C>T | CA443535271 | DNAH5 | c.3834G>A (p.Glu1278=) c.3789G>A (p.Glu1263=) n.4041G>A c.3942G>A (p.Glu1314=) c.2847G>A (p.Glu949=) c.2436G>A (p.Glu812=) n.3959G>A | dbSNP |
5 | g.13870768T>A | CA359231166 | DNAH5 | c.3833A>T (p.Glu1278Val) c.3788A>T (p.Glu1263Val) n.4040A>T c.3941A>T (p.Glu1314Val) c.2846A>T (p.Glu949Val) c.2435A>T (p.Glu812Val) n.3958A>T | |
5 | g.13870768T>C | CA359231168 | DNAH5 | c.3833A>G (p.Glu1278Gly) c.3788A>G (p.Glu1263Gly) n.4040A>G c.3941A>G (p.Glu1314Gly) c.2846A>G (p.Glu949Gly) c.2435A>G (p.Glu812Gly) n.3958A>G | |
5 | g.13870768T>G | CA359231170 | DNAH5 | c.3833A>C (p.Glu1278Ala) c.3788A>C (p.Glu1263Ala) n.4040A>C c.3941A>C (p.Glu1314Ala) c.2846A>C (p.Glu949Ala) c.2435A>C (p.Glu812Ala) n.3958A>C | |
5 | g.13870769C>A | CA359231184 | DNAH5 | c.3832G>T (p.Glu1278Ter) c.3787G>T (p.Glu1263Ter) n.4039G>T c.3940G>T (p.Glu1314Ter) c.2845G>T (p.Glu949Ter) c.2434G>T (p.Glu812Ter) n.3957G>T | |
5 | g.13870769C>G | CA359231179 | DNAH5 | c.3832G>C (p.Glu1278Gln) c.3787G>C (p.Glu1263Gln) n.4039G>C c.3940G>C (p.Glu1314Gln) c.2845G>C (p.Glu949Gln) c.2434G>C (p.Glu812Gln) n.3957G>C | |
5 | g.13870769C>T | CA359231172 | DNAH5 | c.3832G>A (p.Glu1278Lys) c.3787G>A (p.Glu1263Lys) n.4039G>A c.3940G>A (p.Glu1314Lys) c.2845G>A (p.Glu949Lys) c.2434G>A (p.Glu812Lys) n.3957G>A | COSMIC |
5 | g.13870770A>C | CA359231188 | DNAH5 | c.3831T>G (p.Ile1277Met) c.3786T>G (p.Ile1262Met) n.4038T>G c.3939T>G (p.Ile1313Met) c.2844T>G (p.Ile948Met) c.2433T>G (p.Ile811Met) n.3956T>G | |
5 | g.13870770A>G | CA443535272 | DNAH5 | c.3831T>C (p.Ile1277=) c.3786T>C (p.Ile1262=) n.4038T>C c.3939T>C (p.Ile1313=) c.2844T>C (p.Ile948=) c.2433T>C (p.Ile811=) n.3956T>C | COSMIC |
5 | g.13870770A>T | CA443535273 | DNAH5 | c.3831T>A (p.Ile1277=) c.3786T>A (p.Ile1262=) n.4038T>A c.3939T>A (p.Ile1313=) c.2844T>A (p.Ile948=) c.2433T>A (p.Ile811=) n.3956T>A | |
5 | g.13870771A= | CA1528476295 | DNAH5 | c.3830T= (p.Ile1277=) c.3785T= (p.Ile1262=) n.4037T= c.3938T= (p.Ile1313=) c.2843T= (p.Ile948=) c.2432T= (p.Ile811=) n.3955T= | |
5 | g.13870771A>C | CA359231195 | DNAH5 | c.3830T>G (p.Ile1277Ser) c.3785T>G (p.Ile1262Ser) n.4037T>G c.3938T>G (p.Ile1313Ser) c.2843T>G (p.Ile948Ser) c.2432T>G (p.Ile811Ser) n.3955T>G | |
5 | g.13870771A>G | CA113981180 | DNAH5 | c.3830T>C (p.Ile1277Thr) c.3785T>C (p.Ile1262Thr) n.4037T>C c.3938T>C (p.Ile1313Thr) c.2843T>C (p.Ile948Thr) c.2432T>C (p.Ile811Thr) n.3955T>C | dbSNP gnomAD v4 COSMIC |
5 | g.13870771A>T | CA359231198 | DNAH5 | c.3830T>A (p.Ile1277Asn) c.3785T>A (p.Ile1262Asn) n.4037T>A c.3938T>A (p.Ile1313Asn) c.2843T>A (p.Ile948Asn) c.2432T>A (p.Ile811Asn) n.3955T>A | |
5 | g.13870772T>A | CA3204171 | DNAH5 | c.3829A>T (p.Ile1277Phe) c.3784A>T (p.Ile1262Phe) n.4036A>T c.3937A>T (p.Ile1313Phe) c.2842A>T (p.Ile948Phe) c.2431A>T (p.Ile811Phe) n.3954A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870772T>C | CA3204172 | DNAH5 | c.3829A>G (p.Ile1277Val) c.3784A>G (p.Ile1262Val) n.4036A>G c.3937A>G (p.Ile1313Val) c.2842A>G (p.Ile948Val) c.2431A>G (p.Ile811Val) n.3954A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870772T>G | CA359231210 | DNAH5 | c.3829A>C (p.Ile1277Leu) c.3784A>C (p.Ile1262Leu) n.4036A>C c.3937A>C (p.Ile1313Leu) c.2842A>C (p.Ile948Leu) c.2431A>C (p.Ile811Leu) n.3954A>C | |
5 | g.13870772T= | CA1528476297 | DNAH5 | c.3829A= (p.Ile1277=) c.3784A= (p.Ile1262=) n.4036A= c.3937A= (p.Ile1313=) c.2842A= (p.Ile948=) c.2431A= (p.Ile811=) n.3954A= | |
5 | g.13870773A= | CA1528476299 | DNAH5 | c.3828T= (p.Pro1276=) c.3783T= (p.Pro1261=) n.4035T= c.3936T= (p.Pro1312=) c.2841T= (p.Pro947=) c.2430T= (p.Pro810=) n.3953T= | |
5 | g.13870773A>C | CA443535274 | DNAH5 | c.3828T>G (p.Pro1276=) c.3783T>G (p.Pro1261=) n.4035T>G c.3936T>G (p.Pro1312=) c.2841T>G (p.Pro947=) c.2430T>G (p.Pro810=) n.3953T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13870773A>G | CA443535275 | DNAH5 | c.3828T>C (p.Pro1276=) c.3783T>C (p.Pro1261=) n.4035T>C c.3936T>C (p.Pro1312=) c.2841T>C (p.Pro947=) c.2430T>C (p.Pro810=) n.3953T>C | |
5 | g.13870773A>T | CA443535276 | DNAH5 | c.3828T>A (p.Pro1276=) c.3783T>A (p.Pro1261=) n.4035T>A c.3936T>A (p.Pro1312=) c.2841T>A (p.Pro947=) c.2430T>A (p.Pro810=) n.3953T>A | |
5 | g.13870774G>A | CA359231212 | DNAH5 | c.3827C>T (p.Pro1276Leu) c.3782C>T (p.Pro1261Leu) n.4034C>T c.3935C>T (p.Pro1312Leu) c.2840C>T (p.Pro947Leu) c.2429C>T (p.Pro810Leu) n.3952C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870774G>C | CA359231213 | DNAH5 | c.3827C>G (p.Pro1276Arg) c.3782C>G (p.Pro1261Arg) n.4034C>G c.3935C>G (p.Pro1312Arg) c.2840C>G (p.Pro947Arg) c.2429C>G (p.Pro810Arg) n.3952C>G | |
5 | g.13870774G= | CA1528476300 | DNAH5 | c.3827C= (p.Pro1276=) c.3782C= (p.Pro1261=) n.4034C= c.3935C= (p.Pro1312=) c.2840C= (p.Pro947=) c.2429C= (p.Pro810=) n.3952C= | |
5 | g.13870774G>T | CA359231214 | DNAH5 | c.3827C>A (p.Pro1276His) c.3782C>A (p.Pro1261His) n.4034C>A c.3935C>A (p.Pro1312His) c.2840C>A (p.Pro947His) c.2429C>A (p.Pro810His) n.3952C>A | |
5 | g.13870775G>A | CA359231215 | DNAH5 | c.3826C>T (p.Pro1276Ser) c.3781C>T (p.Pro1261Ser) n.4033C>T c.3934C>T (p.Pro1312Ser) c.2839C>T (p.Pro947Ser) c.2428C>T (p.Pro810Ser) n.3951C>T | |
5 | g.13870775G>C | CA359231216 | DNAH5 | c.3826C>G (p.Pro1276Ala) c.3781C>G (p.Pro1261Ala) n.4033C>G c.3934C>G (p.Pro1312Ala) c.2839C>G (p.Pro947Ala) c.2428C>G (p.Pro810Ala) n.3951C>G | |
5 | g.13870775G= | CA1528476302 | DNAH5 | c.3826C= (p.Pro1276=) c.3781C= (p.Pro1261=) n.4033C= c.3934C= (p.Pro1312=) c.2839C= (p.Pro947=) c.2428C= (p.Pro810=) n.3951C= | |
5 | g.13870775G>T | CA113981194 | DNAH5 | c.3826C>A (p.Pro1276Thr) c.3781C>A (p.Pro1261Thr) n.4033C>A c.3934C>A (p.Pro1312Thr) c.2839C>A (p.Pro947Thr) c.2428C>A (p.Pro810Thr) n.3951C>A | dbSNP |
5 | g.13870776T>A | CA443535277 | DNAH5 | c.3825A>T (p.Gly1275=) c.3780A>T (p.Gly1260=) n.4032A>T c.3933A>T (p.Gly1311=) c.2838A>T (p.Gly946=) c.2427A>T (p.Gly809=) n.3950A>T | |
5 | g.13870776T>C | CA443535278 | DNAH5 | c.3825A>G (p.Gly1275=) c.3780A>G (p.Gly1260=) n.4032A>G c.3933A>G (p.Gly1311=) c.2838A>G (p.Gly946=) c.2427A>G (p.Gly809=) n.3950A>G | |
5 | g.13870776T>G | CA443535279 | DNAH5 | c.3825A>C (p.Gly1275=) c.3780A>C (p.Gly1260=) n.4032A>C c.3933A>C (p.Gly1311=) c.2838A>C (p.Gly946=) c.2427A>C (p.Gly809=) n.3950A>C | |
5 | g.13870777C>A | CA359231218 | DNAH5 | c.3824G>T (p.Gly1275Val) c.3779G>T (p.Gly1260Val) n.4031G>T c.3932G>T (p.Gly1311Val) c.2837G>T (p.Gly946Val) c.2426G>T (p.Gly809Val) n.3949G>T | |
5 | g.13870777C>G | CA359231220 | DNAH5 | c.3824G>C (p.Gly1275Ala) c.3779G>C (p.Gly1260Ala) n.4031G>C c.3932G>C (p.Gly1311Ala) c.2837G>C (p.Gly946Ala) c.2426G>C (p.Gly809Ala) n.3949G>C | |
5 | g.13870777C>T | CA359231223 | DNAH5 | c.3824G>A (p.Gly1275Glu) c.3779G>A (p.Gly1260Glu) n.4031G>A c.3932G>A (p.Gly1311Glu) c.2837G>A (p.Gly946Glu) c.2426G>A (p.Gly809Glu) n.3949G>A | COSMIC |
5 | g.13870778C>A | CA359231229 | DNAH5 | c.3823G>T (p.Gly1275Ter) c.3778G>T (p.Gly1260Ter) n.4030G>T c.3931G>T (p.Gly1311Ter) c.2836G>T (p.Gly946Ter) c.2425G>T (p.Gly809Ter) n.3948G>T | |
5 | g.13870778C>G | CA359231227 | DNAH5 | c.3823G>C (p.Gly1275Arg) c.3778G>C (p.Gly1260Arg) n.4030G>C c.3931G>C (p.Gly1311Arg) c.2836G>C (p.Gly946Arg) c.2425G>C (p.Gly809Arg) n.3948G>C | |
5 | g.13870778C>T | CA359231228 | DNAH5 | c.3823G>A (p.Gly1275Arg) c.3778G>A (p.Gly1260Arg) n.4030G>A c.3931G>A (p.Gly1311Arg) c.2836G>A (p.Gly946Arg) c.2425G>A (p.Gly809Arg) n.3948G>A | |
5 | g.13870779T>A | CA443535280 | DNAH5 | c.3822A>T (p.Val1274=) c.3777A>T (p.Val1259=) n.4029A>T c.3930A>T (p.Val1310=) c.2835A>T (p.Val945=) c.2424A>T (p.Val808=) n.3947A>T | |
5 | g.13870779T>C | CA443535281 | DNAH5 | c.3822A>G (p.Val1274=) c.3777A>G (p.Val1259=) n.4029A>G c.3930A>G (p.Val1310=) c.2835A>G (p.Val945=) c.2424A>G (p.Val808=) n.3947A>G | |
5 | g.13870779T>G | CA443535282 | DNAH5 | c.3822A>C (p.Val1274=) c.3777A>C (p.Val1259=) n.4029A>C c.3930A>C (p.Val1310=) c.2835A>C (p.Val945=) c.2424A>C (p.Val808=) n.3947A>C | |
5 | g.13870780A= | CA1528476303 | DNAH5 | c.3821T= (p.Val1274=) c.3776T= (p.Val1259=) n.4028T= c.3929T= (p.Val1310=) c.2834T= (p.Val945=) c.2423T= (p.Val808=) n.3946T= | |
5 | g.13870780A>C | CA359231230 | DNAH5 | c.3821T>G (p.Val1274Gly) c.3776T>G (p.Val1259Gly) n.4028T>G c.3929T>G (p.Val1310Gly) c.2834T>G (p.Val945Gly) c.2423T>G (p.Val808Gly) n.3946T>G | gnomAD v4 |
5 | g.13870780A>G | CA3204173 | DNAH5 | c.3821T>C (p.Val1274Ala) c.3776T>C (p.Val1259Ala) n.4028T>C c.3929T>C (p.Val1310Ala) c.2834T>C (p.Val945Ala) c.2423T>C (p.Val808Ala) n.3946T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870780A>T | CA359231231 | DNAH5 | c.3821T>A (p.Val1274Glu) c.3776T>A (p.Val1259Glu) n.4028T>A c.3929T>A (p.Val1310Glu) c.2834T>A (p.Val945Glu) c.2423T>A (p.Val808Glu) n.3946T>A | |
5 | g.13870781C>A | CA359231232 | DNAH5 | c.3820G>T (p.Val1274Leu) c.3775G>T (p.Val1259Leu) n.4027G>T c.3928G>T (p.Val1310Leu) c.2833G>T (p.Val945Leu) c.2422G>T (p.Val808Leu) n.3945G>T | dbSNP |
5 | g.13870781C= | CA1528476305 | DNAH5 | c.3820G= (p.Val1274=) c.3775G= (p.Val1259=) n.4027G= c.3928G= (p.Val1310=) c.2833G= (p.Val945=) c.2422G= (p.Val808=) n.3945G= | |
5 | g.13870781C>G | CA359231234 | DNAH5 | c.3820G>C (p.Val1274Leu) c.3775G>C (p.Val1259Leu) n.4027G>C c.3928G>C (p.Val1310Leu) c.2833G>C (p.Val945Leu) c.2422G>C (p.Val808Leu) n.3945G>C | |
5 | g.13870781C>T | CA359231237 | DNAH5 | c.3820G>A (p.Val1274Ile) c.3775G>A (p.Val1259Ile) n.4027G>A c.3928G>A (p.Val1310Ile) c.2833G>A (p.Val945Ile) c.2422G>A (p.Val808Ile) n.3945G>A | dbSNP |
5 | g.13870782T>A | CA359231241 | DNAH5 | c.3819A>T (p.Gln1273His) c.3774A>T (p.Gln1258His) n.4026A>T c.3927A>T (p.Gln1309His) c.2832A>T (p.Gln944His) c.2421A>T (p.Gln807His) n.3944A>T | |
5 | g.13870782T>C | CA443535283 | DNAH5 | c.3819A>G (p.Gln1273=) c.3774A>G (p.Gln1258=) n.4026A>G c.3927A>G (p.Gln1309=) c.2832A>G (p.Gln944=) c.2421A>G (p.Gln807=) n.3944A>G | |
5 | g.13870782T>G | CA359231250 | DNAH5 | c.3819A>C (p.Gln1273His) c.3774A>C (p.Gln1258His) n.4026A>C c.3927A>C (p.Gln1309His) c.2832A>C (p.Gln944His) c.2421A>C (p.Gln807His) n.3944A>C | |
5 | g.13870783T>A | CA359231268 | DNAH5 | c.3818A>T (p.Gln1273Leu) c.3773A>T (p.Gln1258Leu) n.4025A>T c.3926A>T (p.Gln1309Leu) c.2831A>T (p.Gln944Leu) c.2420A>T (p.Gln807Leu) n.3943A>T | gnomAD v4 |
5 | g.13870783T>C | CA359231270 | DNAH5 | c.3818A>G (p.Gln1273Arg) c.3773A>G (p.Gln1258Arg) n.4025A>G c.3926A>G (p.Gln1309Arg) c.2831A>G (p.Gln944Arg) c.2420A>G (p.Gln807Arg) n.3943A>G | |
5 | g.13870783T>G | CA359231273 | DNAH5 | c.3818A>C (p.Gln1273Pro) c.3773A>C (p.Gln1258Pro) n.4025A>C c.3926A>C (p.Gln1309Pro) c.2831A>C (p.Gln944Pro) c.2420A>C (p.Gln807Pro) n.3943A>C | |
5 | g.13870784G>A | CA359231277 | DNAH5 | c.3817C>T (p.Gln1273Ter) c.3772C>T (p.Gln1258Ter) n.4024C>T c.3925C>T (p.Gln1309Ter) c.2830C>T (p.Gln944Ter) c.2419C>T (p.Gln807Ter) n.3942C>T | |
5 | g.13870784G>C | CA359231278 | DNAH5 | c.3817C>G (p.Gln1273Glu) c.3772C>G (p.Gln1258Glu) n.4024C>G c.3925C>G (p.Gln1309Glu) c.2830C>G (p.Gln944Glu) c.2419C>G (p.Gln807Glu) n.3942C>G | COSMIC |
5 | g.13870784G>T | CA359231275 | DNAH5 | c.3817C>A (p.Gln1273Lys) c.3772C>A (p.Gln1258Lys) n.4024C>A c.3925C>A (p.Gln1309Lys) c.2830C>A (p.Gln944Lys) c.2419C>A (p.Gln807Lys) n.3942C>A | |
5 | g.13870785A= | CA1528476307 | DNAH5 | c.3816T= (p.Phe1272=) c.3771T= (p.Phe1257=) n.4023T= c.3924T= (p.Phe1308=) c.2829T= (p.Phe943=) c.2418T= (p.Phe806=) n.3941T= | |
5 | g.13870785A>C | CA359231279 | DNAH5 | c.3816T>G (p.Phe1272Leu) c.3771T>G (p.Phe1257Leu) n.4023T>G c.3924T>G (p.Phe1308Leu) c.2829T>G (p.Phe943Leu) c.2418T>G (p.Phe806Leu) n.3941T>G | |
5 | g.13870785A>G | CA443535284 | DNAH5 | c.3816T>C (p.Phe1272=) c.3771T>C (p.Phe1257=) n.4023T>C c.3924T>C (p.Phe1308=) c.2829T>C (p.Phe943=) c.2418T>C (p.Phe806=) n.3941T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870785A>T | CA359231280 | DNAH5 | c.3816T>A (p.Phe1272Leu) c.3771T>A (p.Phe1257Leu) n.4023T>A c.3924T>A (p.Phe1308Leu) c.2829T>A (p.Phe943Leu) c.2418T>A (p.Phe806Leu) n.3941T>A | |
5 | g.13870786A>C | CA359231281 | DNAH5 | c.3815T>G (p.Phe1272Cys) c.3770T>G (p.Phe1257Cys) n.4022T>G c.3923T>G (p.Phe1308Cys) c.2828T>G (p.Phe943Cys) c.2417T>G (p.Phe806Cys) n.3940T>G | COSMIC |
5 | g.13870786A>G | CA359231282 | DNAH5 | c.3815T>C (p.Phe1272Ser) c.3770T>C (p.Phe1257Ser) n.4022T>C c.3923T>C (p.Phe1308Ser) c.2828T>C (p.Phe943Ser) c.2417T>C (p.Phe806Ser) n.3940T>C | |
5 | g.13870786A>T | CA359231284 | DNAH5 | c.3815T>A (p.Phe1272Tyr) c.3770T>A (p.Phe1257Tyr) n.4022T>A c.3923T>A (p.Phe1308Tyr) c.2828T>A (p.Phe943Tyr) c.2417T>A (p.Phe806Tyr) n.3940T>A | |
5 | g.13870787A>C | CA359231286 | DNAH5 | c.3814T>G (p.Phe1272Val) c.3769T>G (p.Phe1257Val) n.4021T>G c.3922T>G (p.Phe1308Val) c.2827T>G (p.Phe943Val) c.2416T>G (p.Phe806Val) n.3939T>G | |
5 | g.13870787A>G | CA359231289 | DNAH5 | c.3814T>C (p.Phe1272Leu) c.3769T>C (p.Phe1257Leu) n.4021T>C c.3922T>C (p.Phe1308Leu) c.2827T>C (p.Phe943Leu) c.2416T>C (p.Phe806Leu) n.3939T>C | |
5 | g.13870787A>T | CA359231295 | DNAH5 | c.3814T>A (p.Phe1272Ile) c.3769T>A (p.Phe1257Ile) n.4021T>A c.3922T>A (p.Phe1308Ile) c.2827T>A (p.Phe943Ile) c.2416T>A (p.Phe806Ile) n.3939T>A | |
5 | g.13870788G>A | CA443535285 | DNAH5 | c.3813C>T (p.Asp1271=) c.3768C>T (p.Asp1256=) n.4020C>T c.3921C>T (p.Asp1307=) c.2826C>T (p.Asp942=) c.2415C>T (p.Asp805=) n.3938C>T | |
5 | g.13870788G>C | CA359231298 | DNAH5 | c.3813C>G (p.Asp1271Glu) c.3768C>G (p.Asp1256Glu) n.4020C>G c.3921C>G (p.Asp1307Glu) c.2826C>G (p.Asp942Glu) c.2415C>G (p.Asp805Glu) n.3938C>G | |
5 | g.13870788G>T | CA359231300 | DNAH5 | c.3813C>A (p.Asp1271Glu) c.3768C>A (p.Asp1256Glu) n.4020C>A c.3921C>A (p.Asp1307Glu) c.2826C>A (p.Asp942Glu) c.2415C>A (p.Asp805Glu) n.3938C>A | |
5 | g.13870789T>A | CA359231305 | DNAH5 | c.3812A>T (p.Asp1271Val) c.3767A>T (p.Asp1256Val) n.4019A>T c.3920A>T (p.Asp1307Val) c.2825A>T (p.Asp942Val) c.2414A>T (p.Asp805Val) n.3937A>T | |
5 | g.13870789T>C | CA359231308 | DNAH5 | c.3812A>G (p.Asp1271Gly) c.3767A>G (p.Asp1256Gly) n.4019A>G c.3920A>G (p.Asp1307Gly) c.2825A>G (p.Asp942Gly) c.2414A>G (p.Asp805Gly) n.3937A>G | |
5 | g.13870789T>G | CA359231309 | DNAH5 | c.3812A>C (p.Asp1271Ala) c.3767A>C (p.Asp1256Ala) n.4019A>C c.3920A>C (p.Asp1307Ala) c.2825A>C (p.Asp942Ala) c.2414A>C (p.Asp805Ala) n.3937A>C | |
5 | g.13870790C>A | CA359231312 | DNAH5 | c.3811G>T (p.Asp1271Tyr) c.3766G>T (p.Asp1256Tyr) n.4018G>T c.3919G>T (p.Asp1307Tyr) c.2824G>T (p.Asp942Tyr) c.2413G>T (p.Asp805Tyr) n.3936G>T | |
5 | g.13870790C>G | CA359231311 | DNAH5 | c.3811G>C (p.Asp1271His) c.3766G>C (p.Asp1256His) n.4018G>C c.3919G>C (p.Asp1307His) c.2824G>C (p.Asp942His) c.2413G>C (p.Asp805His) n.3936G>C | gnomAD v2 gnomAD v4 |
5 | g.13870790C>T | CA359231310 | DNAH5 | c.3811G>A (p.Asp1271Asn) c.3766G>A (p.Asp1256Asn) n.4018G>A c.3919G>A (p.Asp1307Asn) c.2824G>A (p.Asp942Asn) c.2413G>A (p.Asp805Asn) n.3936G>A | |
5 | g.13870791A>C | CA359231313 | DNAH5 | c.3810T>G (p.Ile1270Met) c.3765T>G (p.Ile1255Met) n.4017T>G c.3918T>G (p.Ile1306Met) c.2823T>G (p.Ile941Met) c.2412T>G (p.Ile804Met) n.3935T>G | |
5 | g.13870791A>G | CA443535286 | DNAH5 | c.3810T>C (p.Ile1270=) c.3765T>C (p.Ile1255=) n.4017T>C c.3918T>C (p.Ile1306=) c.2823T>C (p.Ile941=) c.2412T>C (p.Ile804=) n.3935T>C | |
5 | g.13870791A>T | CA443535287 | DNAH5 | c.3810T>A (p.Ile1270=) c.3765T>A (p.Ile1255=) n.4017T>A c.3918T>A (p.Ile1306=) c.2823T>A (p.Ile941=) c.2412T>A (p.Ile804=) n.3935T>A | |
5 | g.13870792A= | CA1528476308 | DNAH5 | c.3809T= (p.Ile1270=) c.3764T= (p.Ile1255=) n.4016T= c.3917T= (p.Ile1306=) c.2822T= (p.Ile941=) c.2411T= (p.Ile804=) n.3934T= | |
5 | g.13870792A>C | CA359231314 | DNAH5 | c.3809T>G (p.Ile1270Ser) c.3764T>G (p.Ile1255Ser) n.4016T>G c.3917T>G (p.Ile1306Ser) c.2822T>G (p.Ile941Ser) c.2411T>G (p.Ile804Ser) n.3934T>G | |
5 | g.13870792A>G | CA359231316 | DNAH5 | c.3809T>C (p.Ile1270Thr) c.3764T>C (p.Ile1255Thr) n.4016T>C c.3917T>C (p.Ile1306Thr) c.2822T>C (p.Ile941Thr) c.2411T>C (p.Ile804Thr) n.3934T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870792A>T | CA359231317 | DNAH5 | c.3809T>A (p.Ile1270Asn) c.3764T>A (p.Ile1255Asn) n.4016T>A c.3917T>A (p.Ile1306Asn) c.2822T>A (p.Ile941Asn) c.2411T>A (p.Ile804Asn) n.3934T>A | |
5 | g.13870793T>A | CA359231318 | DNAH5 | c.3808A>T (p.Ile1270Phe) c.3763A>T (p.Ile1255Phe) n.4015A>T c.3916A>T (p.Ile1306Phe) c.2821A>T (p.Ile941Phe) c.2410A>T (p.Ile804Phe) n.3933A>T | |
5 | g.13870793T>C | CA113981217 | DNAH5 | c.3808A>G (p.Ile1270Val) c.3763A>G (p.Ile1255Val) n.4015A>G c.3916A>G (p.Ile1306Val) c.2821A>G (p.Ile941Val) c.2410A>G (p.Ile804Val) n.3933A>G | dbSNP gnomAD v4 |
5 | g.13870793T>G | CA359231321 | DNAH5 | c.3808A>C (p.Ile1270Leu) c.3763A>C (p.Ile1255Leu) n.4015A>C c.3916A>C (p.Ile1306Leu) c.2821A>C (p.Ile941Leu) c.2410A>C (p.Ile804Leu) n.3933A>C | |
5 | g.13870793T= | CA1528476310 | DNAH5 | c.3808A= (p.Ile1270=) c.3763A= (p.Ile1255=) n.4015A= c.3916A= (p.Ile1306=) c.2821A= (p.Ile941=) c.2410A= (p.Ile804=) n.3933A= | |
5 | g.13870794G>A | CA443535288 | DNAH5 | c.3807C>T (p.Ser1269=) c.3762C>T (p.Ser1254=) n.4014C>T c.3915C>T (p.Ser1305=) c.2820C>T (p.Ser940=) c.2409C>T (p.Ser803=) n.3932C>T | |
5 | g.13870794G>C | CA443535290 | DNAH5 | c.3807C>G (p.Ser1269=) c.3762C>G (p.Ser1254=) n.4014C>G c.3915C>G (p.Ser1305=) c.2820C>G (p.Ser940=) c.2409C>G (p.Ser803=) n.3932C>G | |
5 | g.13870794G>T | CA443535289 | DNAH5 | c.3807C>A (p.Ser1269=) c.3762C>A (p.Ser1254=) n.4014C>A c.3915C>A (p.Ser1305=) c.2820C>A (p.Ser940=) c.2409C>A (p.Ser803=) n.3932C>A | |
5 | g.13870795G>A | CA359231325 | DNAH5 | c.3806C>T (p.Ser1269Phe) c.3761C>T (p.Ser1254Phe) n.4013C>T c.3914C>T (p.Ser1305Phe) c.2819C>T (p.Ser940Phe) c.2408C>T (p.Ser803Phe) n.3931C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13870795G>C | CA359231328 | DNAH5 | c.3806C>G (p.Ser1269Cys) c.3761C>G (p.Ser1254Cys) n.4013C>G c.3914C>G (p.Ser1305Cys) c.2819C>G (p.Ser940Cys) c.2408C>G (p.Ser803Cys) n.3931C>G | gnomAD v4 |
5 | g.13870795G= | CA1528476312 | DNAH5 | c.3806C= (p.Ser1269=) c.3761C= (p.Ser1254=) n.4013C= c.3914C= (p.Ser1305=) c.2819C= (p.Ser940=) c.2408C= (p.Ser803=) n.3931C= | |
5 | g.13870795G>T | CA359231332 | DNAH5 | c.3806C>A (p.Ser1269Tyr) c.3761C>A (p.Ser1254Tyr) n.4013C>A c.3914C>A (p.Ser1305Tyr) c.2819C>A (p.Ser940Tyr) c.2408C>A (p.Ser803Tyr) n.3931C>A | |
5 | g.13870796A= | CA1528476314 | DNAH5 | c.3805T= (p.Ser1269=) c.3760T= (p.Ser1254=) n.4012T= c.3913T= (p.Ser1305=) c.2818T= (p.Ser940=) c.2407T= (p.Ser803=) n.3930T= | |
5 | g.13870796A>C | CA359231335 | DNAH5 | c.3805T>G (p.Ser1269Ala) c.3760T>G (p.Ser1254Ala) n.4012T>G c.3913T>G (p.Ser1305Ala) c.2818T>G (p.Ser940Ala) c.2407T>G (p.Ser803Ala) n.3930T>G | |
5 | g.13870796A>G | CA359231338 | DNAH5 | c.3805T>C (p.Ser1269Pro) c.3760T>C (p.Ser1254Pro) n.4012T>C c.3913T>C (p.Ser1305Pro) c.2818T>C (p.Ser940Pro) c.2407T>C (p.Ser803Pro) n.3930T>C | |
5 | g.13870796A>T | CA359231342 | DNAH5 | c.3805T>A (p.Ser1269Thr) c.3760T>A (p.Ser1254Thr) n.4012T>A c.3913T>A (p.Ser1305Thr) c.2818T>A (p.Ser940Thr) c.2407T>A (p.Ser803Thr) n.3930T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870797G>A | CA443535291 | DNAH5 | c.3804C>T (p.Ile1268=) c.3759C>T (p.Ile1253=) n.4011C>T c.3912C>T (p.Ile1304=) c.2817C>T (p.Ile939=) c.2406C>T (p.Ile802=) n.3929C>T | ClinVar gnomAD v4 |
5 | g.13870797G>C | CA359231344 | DNAH5 | c.3804C>G (p.Ile1268Met) c.3759C>G (p.Ile1253Met) n.4011C>G c.3912C>G (p.Ile1304Met) c.2817C>G (p.Ile939Met) c.2406C>G (p.Ile802Met) n.3929C>G | gnomAD v4 COSMIC |
5 | g.13870797G>T | CA443535292 | DNAH5 | c.3804C>A (p.Ile1268=) c.3759C>A (p.Ile1253=) n.4011C>A c.3912C>A (p.Ile1304=) c.2817C>A (p.Ile939=) c.2406C>A (p.Ile802=) n.3929C>A | |
5 | g.13870798A= | CA1528476315 | DNAH5 | c.3803T= (p.Ile1268=) c.3758T= (p.Ile1253=) n.4010T= c.3911T= (p.Ile1304=) c.2816T= (p.Ile939=) c.2405T= (p.Ile802=) n.3928T= | |
5 | g.13870798A>C | CA359231360 | DNAH5 | c.3803T>G (p.Ile1268Ser) c.3758T>G (p.Ile1253Ser) n.4010T>G c.3911T>G (p.Ile1304Ser) c.2816T>G (p.Ile939Ser) c.2405T>G (p.Ile802Ser) n.3928T>G | |
5 | g.13870798A>G | CA359231357 | DNAH5 | c.3803T>C (p.Ile1268Thr) c.3758T>C (p.Ile1253Thr) n.4010T>C c.3911T>C (p.Ile1304Thr) c.2816T>C (p.Ile939Thr) c.2405T>C (p.Ile802Thr) n.3928T>C | |
5 | g.13870798A>T | CA113981226 | DNAH5 | c.3803T>A (p.Ile1268Asn) c.3758T>A (p.Ile1253Asn) n.4010T>A c.3911T>A (p.Ile1304Asn) c.2816T>A (p.Ile939Asn) c.2405T>A (p.Ile802Asn) n.3928T>A | dbSNP |
5 | g.13870799T>A | CA359231371 | DNAH5 | c.3802A>T (p.Ile1268Phe) c.3757A>T (p.Ile1253Phe) n.4009A>T c.3910A>T (p.Ile1304Phe) c.2815A>T (p.Ile939Phe) c.2404A>T (p.Ile802Phe) n.3927A>T | |
5 | g.13870799T>C | CA359231374 | DNAH5 | c.3802A>G (p.Ile1268Val) c.3757A>G (p.Ile1253Val) n.4009A>G c.3910A>G (p.Ile1304Val) c.2815A>G (p.Ile939Val) c.2404A>G (p.Ile802Val) n.3927A>G | |
5 | g.13870799T>G | CA359231375 | DNAH5 | c.3802A>C (p.Ile1268Leu) c.3757A>C (p.Ile1253Leu) n.4009A>C c.3910A>C (p.Ile1304Leu) c.2815A>C (p.Ile939Leu) c.2404A>C (p.Ile802Leu) n.3927A>C | |
5 | g.13870800T>A | CA359231378 | DNAH5 | c.3801A>T (p.Gln1267His) c.3756A>T (p.Gln1252His) n.4008A>T c.3909A>T (p.Gln1303His) c.2814A>T (p.Gln938His) c.2403A>T (p.Gln801His) n.3926A>T | |
5 | g.13870800T>C | CA443535293 | DNAH5 | c.3801A>G (p.Gln1267=) c.3756A>G (p.Gln1252=) n.4008A>G c.3909A>G (p.Gln1303=) c.2814A>G (p.Gln938=) c.2403A>G (p.Gln801=) n.3926A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870800T>G | CA359231392 | DNAH5 | c.3801A>C (p.Gln1267His) c.3756A>C (p.Gln1252His) n.4008A>C c.3909A>C (p.Gln1303His) c.2814A>C (p.Gln938His) c.2403A>C (p.Gln801His) n.3926A>C | |
5 | g.13870800T= | CA1528476317 | DNAH5 | c.3801A= (p.Gln1267=) c.3756A= (p.Gln1252=) n.4008A= c.3909A= (p.Gln1303=) c.2814A= (p.Gln938=) c.2403A= (p.Gln801=) n.3926A= | |
5 | g.13870801T>A | CA359231399 | DNAH5 | c.3800A>T (p.Gln1267Leu) c.3755A>T (p.Gln1252Leu) n.4007A>T c.3908A>T (p.Gln1303Leu) c.2813A>T (p.Gln938Leu) c.2402A>T (p.Gln801Leu) n.3925A>T | |
5 | g.13870801T>C | CA359231398 | DNAH5 | c.3800A>G (p.Gln1267Arg) c.3755A>G (p.Gln1252Arg) n.4007A>G c.3908A>G (p.Gln1303Arg) c.2813A>G (p.Gln938Arg) c.2402A>G (p.Gln801Arg) n.3925A>G | |
5 | g.13870801T>G | CA359231397 | DNAH5 | c.3800A>C (p.Gln1267Pro) c.3755A>C (p.Gln1252Pro) n.4007A>C c.3908A>C (p.Gln1303Pro) c.2813A>C (p.Gln938Pro) c.2402A>C (p.Gln801Pro) n.3925A>C | |
5 | g.13870802G>A | CA359231400 | DNAH5 | c.3799C>T (p.Gln1267Ter) c.3754C>T (p.Gln1252Ter) n.4006C>T c.3907C>T (p.Gln1303Ter) c.2812C>T (p.Gln938Ter) c.2401C>T (p.Gln801Ter) n.3924C>T | ClinVar |
5 | g.13870802G>C | CA359231401 | DNAH5 | c.3799C>G (p.Gln1267Glu) c.3754C>G (p.Gln1252Glu) n.4006C>G c.3907C>G (p.Gln1303Glu) c.2812C>G (p.Gln938Glu) c.2401C>G (p.Gln801Glu) n.3924C>G | |
5 | g.13870802G>T | CA359231402 | DNAH5 | c.3799C>A (p.Gln1267Lys) c.3754C>A (p.Gln1252Lys) n.4006C>A c.3907C>A (p.Gln1303Lys) c.2812C>A (p.Gln938Lys) c.2401C>A (p.Gln801Lys) n.3924C>A | |
5 | g.13870803C>A | CA359231403 | DNAH5 | c.3798G>T (p.Glu1266Asp) c.3753G>T (p.Glu1251Asp) n.4005G>T c.3906G>T (p.Glu1302Asp) c.2811G>T (p.Glu937Asp) c.2400G>T (p.Glu800Asp) n.3923G>T | gnomAD v4 |
5 | g.13870803C= | CA1528476319 | DNAH5 | c.3798G= (p.Glu1266=) c.3753G= (p.Glu1251=) n.4005G= c.3906G= (p.Glu1302=) c.2811G= (p.Glu937=) c.2400G= (p.Glu800=) n.3923G= | |
5 | g.13870803C>G | CA359231410 | DNAH5 | c.3798G>C (p.Glu1266Asp) c.3753G>C (p.Glu1251Asp) n.4005G>C c.3906G>C (p.Glu1302Asp) c.2811G>C (p.Glu937Asp) c.2400G>C (p.Glu800Asp) n.3923G>C | |
5 | g.13870803C>T | CA3204174 | DNAH5 | c.3798G>A (p.Glu1266=) c.3753G>A (p.Glu1251=) n.4005G>A c.3906G>A (p.Glu1302=) c.2811G>A (p.Glu937=) c.2400G>A (p.Glu800=) n.3923G>A | dbSNP ExAC gnomAD v2 |
5 | g.13870804T>A | CA359231414 | DNAH5 | c.3797A>T (p.Glu1266Val) c.3752A>T (p.Glu1251Val) n.4004A>T c.3905A>T (p.Glu1302Val) c.2810A>T (p.Glu937Val) c.2399A>T (p.Glu800Val) n.3922A>T | |
5 | g.13870804T>C | CA359231421 | DNAH5 | c.3797A>G (p.Glu1266Gly) c.3752A>G (p.Glu1251Gly) n.4004A>G c.3905A>G (p.Glu1302Gly) c.2810A>G (p.Glu937Gly) c.2399A>G (p.Glu800Gly) n.3922A>G | |
5 | g.13870804T>G | CA359231420 | DNAH5 | c.3797A>C (p.Glu1266Ala) c.3752A>C (p.Glu1251Ala) n.4004A>C c.3905A>C (p.Glu1302Ala) c.2810A>C (p.Glu937Ala) c.2399A>C (p.Glu800Ala) n.3922A>C | |
5 | g.13870805C>A | CA359231423 | DNAH5 | c.3796G>T (p.Glu1266Ter) c.3751G>T (p.Glu1251Ter) n.4003G>T c.3904G>T (p.Glu1302Ter) c.2809G>T (p.Glu937Ter) c.2398G>T (p.Glu800Ter) n.3921G>T | |
5 | g.13870805C= | CA1528476320 | DNAH5 | c.3796G= (p.Glu1266=) c.3751G= (p.Glu1251=) n.4003G= c.3904G= (p.Glu1302=) c.2809G= (p.Glu937=) c.2398G= (p.Glu800=) n.3921G= | |
5 | g.13870805C>G | CA359231425 | DNAH5 | c.3796G>C (p.Glu1266Gln) c.3751G>C (p.Glu1251Gln) n.4003G>C c.3904G>C (p.Glu1302Gln) c.2809G>C (p.Glu937Gln) c.2398G>C (p.Glu800Gln) n.3921G>C | |
5 | g.13870805C>T | CA359231433 | DNAH5 | c.3796G>A (p.Glu1266Lys) c.3751G>A (p.Glu1251Lys) n.4003G>A c.3904G>A (p.Glu1302Lys) c.2809G>A (p.Glu937Lys) c.2398G>A (p.Glu800Lys) n.3921G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870806del | CA2765350517 | DNAH5 | c.3796del (p.Glu1266SerfsTer9) c.3751del (p.Glu1251SerfsTer9) n.4003del c.3904del (p.Glu1302SerfsTer9) c.2809del (p.Glu937SerfsTer9) c.2398del (p.Glu800SerfsTer9) n.3921del | |
5 | g.13870806C>A | CA359231434 | DNAH5 | c.3795G>T (p.Glu1265Asp) c.3750G>T (p.Glu1250Asp) n.4002G>T c.3903G>T (p.Glu1301Asp) c.2808G>T (p.Glu936Asp) c.2397G>T (p.Glu799Asp) n.3920G>T | |
5 | g.13870806C>G | CA359231435 | DNAH5 | c.3795G>C (p.Glu1265Asp) c.3750G>C (p.Glu1250Asp) n.4002G>C c.3903G>C (p.Glu1301Asp) c.2808G>C (p.Glu936Asp) c.2397G>C (p.Glu799Asp) n.3920G>C | ClinVar |
5 | g.13870806C>T | CA443535294 | DNAH5 | c.3795G>A (p.Glu1265=) c.3750G>A (p.Glu1250=) n.4002G>A c.3903G>A (p.Glu1301=) c.2808G>A (p.Glu936=) c.2397G>A (p.Glu799=) n.3920G>A | |
5 | g.13870807T>A | CA359231436 | DNAH5 | c.3794A>T (p.Glu1265Val) c.3749A>T (p.Glu1250Val) n.4001A>T c.3902A>T (p.Glu1301Val) c.2807A>T (p.Glu936Val) c.2396A>T (p.Glu799Val) n.3919A>T | |
5 | g.13870807T>C | CA359231440 | DNAH5 | c.3794A>G (p.Glu1265Gly) c.3749A>G (p.Glu1250Gly) n.4001A>G c.3902A>G (p.Glu1301Gly) c.2807A>G (p.Glu936Gly) c.2396A>G (p.Glu799Gly) n.3919A>G | dbSNP |
5 | g.13870807T>G | CA359231443 | DNAH5 | c.3794A>C (p.Glu1265Ala) c.3749A>C (p.Glu1250Ala) n.4001A>C c.3902A>C (p.Glu1301Ala) c.2807A>C (p.Glu936Ala) c.2396A>C (p.Glu799Ala) n.3919A>C | |
5 | g.13870807T= | CA1528476321 | DNAH5 | c.3794A= (p.Glu1265=) c.3749A= (p.Glu1250=) n.4001A= c.3902A= (p.Glu1301=) c.2807A= (p.Glu936=) c.2396A= (p.Glu799=) n.3919A= | |
5 | g.13870808C>A | CA359231448 | DNAH5 | c.3793G>T (p.Glu1265Ter) c.3748G>T (p.Glu1250Ter) n.4000G>T c.3901G>T (p.Glu1301Ter) c.2806G>T (p.Glu936Ter) c.2395G>T (p.Glu799Ter) n.3918G>T | |
5 | g.13870808C>G | CA359231451 | DNAH5 | c.3793G>C (p.Glu1265Gln) c.3748G>C (p.Glu1250Gln) n.4000G>C c.3901G>C (p.Glu1301Gln) c.2806G>C (p.Glu936Gln) c.2395G>C (p.Glu799Gln) n.3918G>C | |
5 | g.13870808C>T | CA359231453 | DNAH5 | c.3793G>A (p.Glu1265Lys) c.3748G>A (p.Glu1250Lys) n.4000G>A c.3901G>A (p.Glu1301Lys) c.2806G>A (p.Glu936Lys) c.2395G>A (p.Glu799Lys) n.3918G>A | |
5 | g.13870808_13870812delinsCCCTT | CA1528476322 | DNAH5 | c.3789_3793delinsAAGGG (p.Ile1263=) c.3744_3748delinsAAGGG (p.Ile1248=) n.3996_4000delinsAAGGG c.3897_3901delinsAAGGG (p.Ile1299=) c.2802_2806delinsAAGGG (p.Ile934=) c.2391_2395delinsAAGGG (p.Ile797=) n.3914_3918delinsAAGGG | |
5 | g.13870809C>A | CA359231456 | DNAH5 | c.3792G>T (p.Arg1264Ser) c.3747G>T (p.Arg1249Ser) n.3999G>T c.3900G>T (p.Arg1300Ser) c.2805G>T (p.Arg935Ser) c.2394G>T (p.Arg798Ser) n.3917G>T | |
5 | g.13870809C= | CA1528476324 | DNAH5 | c.3792G= (p.Arg1264=) c.3747G= (p.Arg1249=) n.3999G= c.3900G= (p.Arg1300=) c.2805G= (p.Arg935=) c.2394G= (p.Arg798=) n.3917G= | |
5 | g.13870809C>G | CA113981232 | DNAH5 | c.3792G>C (p.Arg1264Ser) c.3747G>C (p.Arg1249Ser) n.3999G>C c.3900G>C (p.Arg1300Ser) c.2805G>C (p.Arg935Ser) c.2394G>C (p.Arg798Ser) n.3917G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870809C>T | CA443535295 | DNAH5 | c.3792G>A (p.Arg1264=) c.3747G>A (p.Arg1249=) n.3999G>A c.3900G>A (p.Arg1300=) c.2805G>A (p.Arg935=) c.2394G>A (p.Arg798=) n.3917G>A | ClinVar COSMIC |
5 | g.13870809_13870812del | CA804501934 | DNAH5 | c.3789_3792del (p.Ile1263MetfsTer11) c.3744_3747del (p.Ile1248MetfsTer11) n.3996_3999del c.3897_3900del (p.Ile1299MetfsTer11) c.2802_2805del (p.Ile934MetfsTer11) c.2391_2394del (p.Ile797MetfsTer11) n.3914_3917del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870810C>A | CA359231463 | DNAH5 | c.3791G>T (p.Arg1264Met) c.3746G>T (p.Arg1249Met) n.3998G>T c.3899G>T (p.Arg1300Met) c.2804G>T (p.Arg935Met) c.2393G>T (p.Arg798Met) n.3916G>T | |
5 | g.13870810C= | CA1528476325 | DNAH5 | c.3791G= (p.Arg1264=) c.3746G= (p.Arg1249=) n.3998G= c.3899G= (p.Arg1300=) c.2804G= (p.Arg935=) c.2393G= (p.Arg798=) n.3916G= | |
5 | g.13870810C>G | CA359231464 | DNAH5 | c.3791G>C (p.Arg1264Thr) c.3746G>C (p.Arg1249Thr) n.3998G>C c.3899G>C (p.Arg1300Thr) c.2804G>C (p.Arg935Thr) c.2393G>C (p.Arg798Thr) n.3916G>C | |
5 | g.13870810C>T | CA3204175 | DNAH5 | c.3791G>A (p.Arg1264Lys) c.3746G>A (p.Arg1249Lys) n.3998G>A c.3899G>A (p.Arg1300Lys) c.2804G>A (p.Arg935Lys) c.2393G>A (p.Arg798Lys) n.3916G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870811T>A | CA359231468 | DNAH5 | c.3790A>T (p.Arg1264Trp) c.3745A>T (p.Arg1249Trp) n.3997A>T c.3898A>T (p.Arg1300Trp) c.2803A>T (p.Arg935Trp) c.2392A>T (p.Arg798Trp) n.3915A>T | |
5 | g.13870811T>C | CA359231474 | DNAH5 | c.3790A>G (p.Arg1264Gly) c.3745A>G (p.Arg1249Gly) n.3997A>G c.3898A>G (p.Arg1300Gly) c.2803A>G (p.Arg935Gly) c.2392A>G (p.Arg798Gly) n.3915A>G | |
5 | g.13870811T>G | CA443535296 | DNAH5 | c.3790A>C (p.Arg1264=) c.3745A>C (p.Arg1249=) n.3997A>C c.3898A>C (p.Arg1300=) c.2803A>C (p.Arg935=) c.2392A>C (p.Arg798=) n.3915A>C | COSMIC |
5 | g.13870812T>A | CA443535297 | DNAH5 | c.3789A>T (p.Ile1263=) c.3744A>T (p.Ile1248=) n.3996A>T c.3897A>T (p.Ile1299=) c.2802A>T (p.Ile934=) c.2391A>T (p.Ile797=) n.3914A>T | |
5 | g.13870812T>C | CA3204176 | DNAH5 | c.3789A>G (p.Ile1263Met) c.3744A>G (p.Ile1248Met) n.3996A>G c.3897A>G (p.Ile1299Met) c.2802A>G (p.Ile934Met) c.2391A>G (p.Ile797Met) n.3914A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870812T>G | CA443535298 | DNAH5 | c.3789A>C (p.Ile1263=) c.3744A>C (p.Ile1248=) n.3996A>C c.3897A>C (p.Ile1299=) c.2802A>C (p.Ile934=) c.2391A>C (p.Ile797=) n.3914A>C | |
5 | g.13870812T= | CA1528476326 | DNAH5 | c.3789A= (p.Ile1263=) c.3744A= (p.Ile1248=) n.3996A= c.3897A= (p.Ile1299=) c.2802A= (p.Ile934=) c.2391A= (p.Ile797=) n.3914A= | |
5 | g.13870813A>C | CA359231488 | DNAH5 | c.3788T>G (p.Ile1263Arg) c.3743T>G (p.Ile1248Arg) n.3995T>G c.3896T>G (p.Ile1299Arg) c.2801T>G (p.Ile934Arg) c.2390T>G (p.Ile797Arg) n.3913T>G | |
5 | g.13870813A>G | CA359231481 | DNAH5 | c.3788T>C (p.Ile1263Thr) c.3743T>C (p.Ile1248Thr) n.3995T>C c.3896T>C (p.Ile1299Thr) c.2801T>C (p.Ile934Thr) c.2390T>C (p.Ile797Thr) n.3913T>C | ClinVar |
5 | g.13870813A>T | CA359231487 | DNAH5 | c.3788T>A (p.Ile1263Lys) c.3743T>A (p.Ile1248Lys) n.3995T>A c.3896T>A (p.Ile1299Lys) c.2801T>A (p.Ile934Lys) c.2390T>A (p.Ile797Lys) n.3913T>A | |
5 | g.13870814T>A | CA359231489 | DNAH5 | c.3787A>T (p.Ile1263Leu) c.3742A>T (p.Ile1248Leu) n.3994A>T c.3895A>T (p.Ile1299Leu) c.2800A>T (p.Ile934Leu) c.2389A>T (p.Ile797Leu) n.3912A>T | |
5 | g.13870814T>C | CA359231492 | DNAH5 | c.3787A>G (p.Ile1263Val) c.3742A>G (p.Ile1248Val) n.3994A>G c.3895A>G (p.Ile1299Val) c.2800A>G (p.Ile934Val) c.2389A>G (p.Ile797Val) n.3912A>G | gnomAD v4 COSMIC |
5 | g.13870814T>G | CA359231494 | DNAH5 | c.3787A>C (p.Ile1263Leu) c.3742A>C (p.Ile1248Leu) n.3994A>C c.3895A>C (p.Ile1299Leu) c.2800A>C (p.Ile934Leu) c.2389A>C (p.Ile797Leu) n.3912A>C | |
5 | g.13870815T>A | CA359231496 | DNAH5 | c.3786A>T (p.Glu1262Asp) c.3741A>T (p.Glu1247Asp) n.3993A>T c.3894A>T (p.Glu1298Asp) c.2799A>T (p.Glu933Asp) c.2388A>T (p.Glu796Asp) n.3911A>T | |
5 | g.13870815T>C | CA443535299 | DNAH5 | c.3786A>G (p.Glu1262=) c.3741A>G (p.Glu1247=) n.3993A>G c.3894A>G (p.Glu1298=) c.2799A>G (p.Glu933=) c.2388A>G (p.Glu796=) n.3911A>G | |
5 | g.13870815T>G | CA359231498 | DNAH5 | c.3786A>C (p.Glu1262Asp) c.3741A>C (p.Glu1247Asp) n.3993A>C c.3894A>C (p.Glu1298Asp) c.2799A>C (p.Glu933Asp) c.2388A>C (p.Glu796Asp) n.3911A>C | |
5 | g.13870816T>A | CA359231501 | DNAH5 | c.3785A>T (p.Glu1262Val) c.3740A>T (p.Glu1247Val) n.3992A>T c.3893A>T (p.Glu1298Val) c.2798A>T (p.Glu933Val) c.2387A>T (p.Glu796Val) n.3910A>T | |
5 | g.13870816T>C | CA359231503 | DNAH5 | c.3785A>G (p.Glu1262Gly) c.3740A>G (p.Glu1247Gly) n.3992A>G c.3893A>G (p.Glu1298Gly) c.2798A>G (p.Glu933Gly) c.2387A>G (p.Glu796Gly) n.3910A>G | ClinVar dbSNP gnomAD v4 |
5 | g.13870816T>G | CA359231502 | DNAH5 | c.3785A>C (p.Glu1262Ala) c.3740A>C (p.Glu1247Ala) n.3992A>C c.3893A>C (p.Glu1298Ala) c.2798A>C (p.Glu933Ala) c.2387A>C (p.Glu796Ala) n.3910A>C | |
5 | g.13870816T= | CA1528476328 | DNAH5 | c.3785A= (p.Glu1262=) c.3740A= (p.Glu1247=) n.3992A= c.3893A= (p.Glu1298=) c.2798A= (p.Glu933=) c.2387A= (p.Glu796=) n.3910A= | |
5 | g.13870817C>A | CA359231506 | DNAH5 | c.3784G>T (p.Glu1262Ter) c.3739G>T (p.Glu1247Ter) n.3991G>T c.3892G>T (p.Glu1298Ter) c.2797G>T (p.Glu933Ter) c.2386G>T (p.Glu796Ter) n.3909G>T | ClinVar gnomAD v4 COSMIC |
5 | g.13870817C= | CA1528476329 | DNAH5 | c.3784G= (p.Glu1262=) c.3739G= (p.Glu1247=) n.3991G= c.3892G= (p.Glu1298=) c.2797G= (p.Glu933=) c.2386G= (p.Glu796=) n.3909G= | |
5 | g.13870817C>G | CA359231509 | DNAH5 | c.3784G>C (p.Glu1262Gln) c.3739G>C (p.Glu1247Gln) n.3991G>C c.3892G>C (p.Glu1298Gln) c.2797G>C (p.Glu933Gln) c.2386G>C (p.Glu796Gln) n.3909G>C | |
5 | g.13870817C>T | CA359231510 | DNAH5 | c.3784G>A (p.Glu1262Lys) c.3739G>A (p.Glu1247Lys) n.3991G>A c.3892G>A (p.Glu1298Lys) c.2797G>A (p.Glu933Lys) c.2386G>A (p.Glu796Lys) n.3909G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.13870818T>A | CA359231515 | DNAH5 | c.3783A>T (p.Lys1261Asn) c.3738A>T (p.Lys1246Asn) n.3990A>T c.3891A>T (p.Lys1297Asn) c.2796A>T (p.Lys932Asn) c.2385A>T (p.Lys795Asn) n.3908A>T | |
5 | g.13870818T>C | CA443535300 | DNAH5 | c.3783A>G (p.Lys1261=) c.3738A>G (p.Lys1246=) n.3990A>G c.3891A>G (p.Lys1297=) c.2796A>G (p.Lys932=) c.2385A>G (p.Lys795=) n.3908A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870818T>G | CA359231517 | DNAH5 | c.3783A>C (p.Lys1261Asn) c.3738A>C (p.Lys1246Asn) n.3990A>C c.3891A>C (p.Lys1297Asn) c.2796A>C (p.Lys932Asn) c.2385A>C (p.Lys795Asn) n.3908A>C | |
5 | g.13870818T= | CA1528476331 | DNAH5 | c.3783A= (p.Lys1261=) c.3738A= (p.Lys1246=) n.3990A= c.3891A= (p.Lys1297=) c.2796A= (p.Lys932=) c.2385A= (p.Lys795=) n.3908A= | |
5 | g.13870819T>A | CA359231525 | DNAH5 | c.3782A>T (p.Lys1261Ile) c.3737A>T (p.Lys1246Ile) n.3989A>T c.3890A>T (p.Lys1297Ile) c.2795A>T (p.Lys932Ile) c.2384A>T (p.Lys795Ile) n.3907A>T | |
5 | g.13870819T>C | CA359231526 | DNAH5 | c.3782A>G (p.Lys1261Arg) c.3737A>G (p.Lys1246Arg) n.3989A>G c.3890A>G (p.Lys1297Arg) c.2795A>G (p.Lys932Arg) c.2384A>G (p.Lys795Arg) n.3907A>G | |
5 | g.13870819T>G | CA359231527 | DNAH5 | c.3782A>C (p.Lys1261Thr) c.3737A>C (p.Lys1246Thr) n.3989A>C c.3890A>C (p.Lys1297Thr) c.2795A>C (p.Lys932Thr) c.2384A>C (p.Lys795Thr) n.3907A>C | |
5 | g.13870820T>A | CA359231528 | DNAH5 | c.3781A>T (p.Lys1261Ter) c.3736A>T (p.Lys1246Ter) n.3988A>T c.3889A>T (p.Lys1297Ter) c.2794A>T (p.Lys932Ter) c.2383A>T (p.Lys795Ter) n.3906A>T | |
5 | g.13870820T>C | CA359231529 | DNAH5 | c.3781A>G (p.Lys1261Glu) c.3736A>G (p.Lys1246Glu) n.3988A>G c.3889A>G (p.Lys1297Glu) c.2794A>G (p.Lys932Glu) c.2383A>G (p.Lys795Glu) n.3906A>G | |
5 | g.13870820T>G | CA359231530 | DNAH5 | c.3781A>C (p.Lys1261Gln) c.3736A>C (p.Lys1246Gln) n.3988A>C c.3889A>C (p.Lys1297Gln) c.2794A>C (p.Lys932Gln) c.2383A>C (p.Lys795Gln) n.3906A>C | |
5 | g.13870821C>A | CA443535301 | DNAH5 | c.3780G>T (p.Leu1260=) c.3735G>T (p.Leu1245=) n.3987G>T c.3888G>T (p.Leu1296=) c.2793G>T (p.Leu931=) c.2382G>T (p.Leu794=) n.3905G>T | |
5 | g.13870821C>G | CA443535302 | DNAH5 | c.3780G>C (p.Leu1260=) c.3735G>C (p.Leu1245=) n.3987G>C c.3888G>C (p.Leu1296=) c.2793G>C (p.Leu931=) c.2382G>C (p.Leu794=) n.3905G>C | |
5 | g.13870821C>T | CA443535303 | DNAH5 | c.3780G>A (p.Leu1260=) c.3735G>A (p.Leu1245=) n.3987G>A c.3888G>A (p.Leu1296=) c.2793G>A (p.Leu931=) c.2382G>A (p.Leu794=) n.3905G>A | ClinVar dbSNP |
5 | g.13870822A>C | CA359231531 | DNAH5 | c.3779T>G (p.Leu1260Arg) c.3734T>G (p.Leu1245Arg) n.3986T>G c.3887T>G (p.Leu1296Arg) c.2792T>G (p.Leu931Arg) c.2381T>G (p.Leu794Arg) n.3904T>G | |
5 | g.13870822A>G | CA359231536 | DNAH5 | c.3779T>C (p.Leu1260Pro) c.3734T>C (p.Leu1245Pro) n.3986T>C c.3887T>C (p.Leu1296Pro) c.2792T>C (p.Leu931Pro) c.2381T>C (p.Leu794Pro) n.3904T>C | |
5 | g.13870822A>T | CA359231534 | DNAH5 | c.3779T>A (p.Leu1260Gln) c.3734T>A (p.Leu1245Gln) n.3986T>A c.3887T>A (p.Leu1296Gln) c.2792T>A (p.Leu931Gln) c.2381T>A (p.Leu794Gln) n.3904T>A | |
5 | g.13870823G>A | CA443535304 | DNAH5 | c.3778C>T (p.Leu1260=) c.3733C>T (p.Leu1245=) n.3985C>T c.3886C>T (p.Leu1296=) c.2791C>T (p.Leu931=) c.2380C>T (p.Leu794=) n.3903C>T | gnomAD v4 |
5 | g.13870823G>C | CA359231537 | DNAH5 | c.3778C>G (p.Leu1260Val) c.3733C>G (p.Leu1245Val) n.3985C>G c.3886C>G (p.Leu1296Val) c.2791C>G (p.Leu931Val) c.2380C>G (p.Leu794Val) n.3903C>G | |
5 | g.13870823G>T | CA359231538 | DNAH5 | c.3778C>A (p.Leu1260Met) c.3733C>A (p.Leu1245Met) n.3985C>A c.3886C>A (p.Leu1296Met) c.2791C>A (p.Leu931Met) c.2380C>A (p.Leu794Met) n.3903C>A | |
5 | g.13870824C>A | CA113981265 | DNAH5 | c.3777G>T (p.Ala1259=) c.3732G>T (p.Ala1244=) n.3984G>T c.3885G>T (p.Ala1295=) c.2790G>T (p.Ala930=) c.2379G>T (p.Ala793=) n.3902G>T | dbSNP |
5 | g.13870824C= | CA1528476335 | DNAH5 | c.3777G= (p.Ala1259=) c.3732G= (p.Ala1244=) n.3984G= c.3885G= (p.Ala1295=) c.2790G= (p.Ala930=) c.2379G= (p.Ala793=) n.3902G= | |
5 | g.13870824C>G | CA113981270 | DNAH5 | c.3777G>C (p.Ala1259=) c.3732G>C (p.Ala1244=) n.3984G>C c.3885G>C (p.Ala1295=) c.2790G>C (p.Ala930=) c.2379G>C (p.Ala793=) n.3902G>C | ClinVar dbSNP gnomAD v4 |
5 | g.13870824C>T | CA3204177 | DNAH5 | c.3777G>A (p.Ala1259=) c.3732G>A (p.Ala1244=) n.3984G>A c.3885G>A (p.Ala1295=) c.2790G>A (p.Ala930=) c.2379G>A (p.Ala793=) n.3902G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870825G>A | CA3204178 | DNAH5 | c.3776C>T (p.Ala1259Val) c.3731C>T (p.Ala1244Val) n.3983C>T c.3884C>T (p.Ala1295Val) c.2789C>T (p.Ala930Val) c.2378C>T (p.Ala793Val) n.3901C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13870825G>C | CA359231545 | DNAH5 | c.3776C>G (p.Ala1259Gly) c.3731C>G (p.Ala1244Gly) n.3983C>G c.3884C>G (p.Ala1295Gly) c.2789C>G (p.Ala930Gly) c.2378C>G (p.Ala793Gly) n.3901C>G | |
5 | g.13870825G= | CA1528476337 | DNAH5 | c.3776C= (p.Ala1259=) c.3731C= (p.Ala1244=) n.3983C= c.3884C= (p.Ala1295=) c.2789C= (p.Ala930=) c.2378C= (p.Ala793=) n.3901C= | |
5 | g.13870825G>T | CA359231542 | DNAH5 | c.3776C>A (p.Ala1259Glu) c.3731C>A (p.Ala1244Glu) n.3983C>A c.3884C>A (p.Ala1295Glu) c.2789C>A (p.Ala930Glu) c.2378C>A (p.Ala793Glu) n.3901C>A | |
5 | g.13870826C>A | CA359231546 | DNAH5 | c.3775G>T (p.Ala1259Ser) c.3730G>T (p.Ala1244Ser) n.3982G>T c.3883G>T (p.Ala1295Ser) c.2788G>T (p.Ala930Ser) c.2377G>T (p.Ala793Ser) n.3900G>T | |
5 | g.13870826C= | CA1528476339 | DNAH5 | c.3775G= (p.Ala1259=) c.3730G= (p.Ala1244=) n.3982G= c.3883G= (p.Ala1295=) c.2788G= (p.Ala930=) c.2377G= (p.Ala793=) n.3900G= | |
5 | g.13870826C>G | CA359231549 | DNAH5 | c.3775G>C (p.Ala1259Pro) c.3730G>C (p.Ala1244Pro) n.3982G>C c.3883G>C (p.Ala1295Pro) c.2788G>C (p.Ala930Pro) c.2377G>C (p.Ala793Pro) n.3900G>C | gnomAD v4 |
5 | g.13870826C>T | CA242431 | DNAH5 | c.3775G>A (p.Ala1259Thr) c.3730G>A (p.Ala1244Thr) n.3982G>A c.3883G>A (p.Ala1295Thr) c.2788G>A (p.Ala930Thr) c.2377G>A (p.Ala793Thr) n.3900G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13870827del | CA2697547069 | DNAH5 | c.3774del (p.Ala1259ArgfsTer2) c.3729del (p.Ala1244ArgfsTer2) n.3981del c.3882del (p.Ala1295ArgfsTer2) c.2787del (p.Ala930ArgfsTer2) c.2376del (p.Ala793ArgfsTer2) n.3899del | ClinVar |
5 | g.13870827T>A | CA443535305 | DNAH5 | c.3774A>T (p.Ala1258=) c.3729A>T (p.Ala1243=) n.3981A>T c.3882A>T (p.Ala1294=) c.2787A>T (p.Ala929=) c.2376A>T (p.Ala792=) n.3899A>T | |
5 | g.13870827T>C | CA443535306 | DNAH5 | c.3774A>G (p.Ala1258=) c.3729A>G (p.Ala1243=) n.3981A>G c.3882A>G (p.Ala1294=) c.2787A>G (p.Ala929=) c.2376A>G (p.Ala792=) n.3899A>G | |
5 | g.13870827T>G | CA443535307 | DNAH5 | c.3774A>C (p.Ala1258=) c.3729A>C (p.Ala1243=) n.3981A>C c.3882A>C (p.Ala1294=) c.2787A>C (p.Ala929=) c.2376A>C (p.Ala792=) n.3899A>C | gnomAD v4 |
5 | g.13870828G>A | CA359231553 | DNAH5 | c.3773C>T (p.Ala1258Val) c.3728C>T (p.Ala1243Val) n.3980C>T c.3881C>T (p.Ala1294Val) c.2786C>T (p.Ala929Val) c.2375C>T (p.Ala792Val) n.3898C>T | |
5 | g.13870828G>C | CA359231555 | DNAH5 | c.3773C>G (p.Ala1258Gly) c.3728C>G (p.Ala1243Gly) n.3980C>G c.3881C>G (p.Ala1294Gly) c.2786C>G (p.Ala929Gly) c.2375C>G (p.Ala792Gly) n.3898C>G | |
5 | g.13870828G>T | CA359231557 | DNAH5 | c.3773C>A (p.Ala1258Glu) c.3728C>A (p.Ala1243Glu) n.3980C>A c.3881C>A (p.Ala1294Glu) c.2786C>A (p.Ala929Glu) c.2375C>A (p.Ala792Glu) n.3898C>A | |
5 | g.13870829C>A | CA359231559 | DNAH5 | c.3772G>T (p.Ala1258Ser) c.3727G>T (p.Ala1243Ser) n.3979G>T c.3880G>T (p.Ala1294Ser) c.2785G>T (p.Ala929Ser) c.2374G>T (p.Ala792Ser) n.3897G>T | gnomAD v4 |
5 | g.13870829C= | CA1528476341 | DNAH5 | c.3772G= (p.Ala1258=) c.3727G= (p.Ala1243=) n.3979G= c.3880G= (p.Ala1294=) c.2785G= (p.Ala929=) c.2374G= (p.Ala792=) n.3897G= | |
5 | g.13870829C>G | CA359231561 | DNAH5 | c.3772G>C (p.Ala1258Pro) c.3727G>C (p.Ala1243Pro) n.3979G>C c.3880G>C (p.Ala1294Pro) c.2785G>C (p.Ala929Pro) c.2374G>C (p.Ala792Pro) n.3897G>C | |
5 | g.13870829C>T | CA359231563 | DNAH5 | c.3772G>A (p.Ala1258Thr) c.3727G>A (p.Ala1243Thr) n.3979G>A c.3880G>A (p.Ala1294Thr) c.2785G>A (p.Ala929Thr) c.2374G>A (p.Ala792Thr) n.3897G>A | dbSNP gnomAD v4 |
5 | g.13870830C>A | CA359231564 | DNAH5 | c.3771G>T (p.Met1257Ile) c.3726G>T (p.Met1242Ile) n.3978G>T c.3879G>T (p.Met1293Ile) c.2784G>T (p.Met928Ile) c.2373G>T (p.Met791Ile) n.3896G>T | |
5 | g.13870830C>G | CA359231565 | DNAH5 | c.3771G>C (p.Met1257Ile) c.3726G>C (p.Met1242Ile) n.3978G>C c.3879G>C (p.Met1293Ile) c.2784G>C (p.Met928Ile) c.2373G>C (p.Met791Ile) n.3896G>C | |
5 | g.13870830C>T | CA359231566 | DNAH5 | c.3771G>A (p.Met1257Ile) c.3726G>A (p.Met1242Ile) n.3978G>A c.3879G>A (p.Met1293Ile) c.2784G>A (p.Met928Ile) c.2373G>A (p.Met791Ile) n.3896G>A | |
5 | g.13870831A>C | CA359231567 | DNAH5 | c.3770T>G (p.Met1257Arg) c.3725T>G (p.Met1242Arg) n.3977T>G c.3878T>G (p.Met1293Arg) c.2783T>G (p.Met928Arg) c.2372T>G (p.Met791Arg) n.3895T>G | |
5 | g.13870831A>G | CA359231569 | DNAH5 | c.3770T>C (p.Met1257Thr) c.3725T>C (p.Met1242Thr) n.3977T>C c.3878T>C (p.Met1293Thr) c.2783T>C (p.Met928Thr) c.2372T>C (p.Met791Thr) n.3895T>C | |
5 | g.13870831A>T | CA359231568 | DNAH5 | c.3770T>A (p.Met1257Lys) c.3725T>A (p.Met1242Lys) n.3977T>A c.3878T>A (p.Met1293Lys) c.2783T>A (p.Met928Lys) c.2372T>A (p.Met791Lys) n.3895T>A | |
5 | g.13870832T>A | CA359231570 | DNAH5 | c.3769A>T (p.Met1257Leu) c.3724A>T (p.Met1242Leu) n.3976A>T c.3877A>T (p.Met1293Leu) c.2782A>T (p.Met928Leu) c.2371A>T (p.Met791Leu) n.3894A>T | |
5 | g.13870832T>C | CA10619129 | DNAH5 | c.3769A>G (p.Met1257Val) c.3724A>G (p.Met1242Val) n.3976A>G c.3877A>G (p.Met1293Val) c.2782A>G (p.Met928Val) c.2371A>G (p.Met791Val) n.3894A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870832T>G | CA359231571 | DNAH5 | c.3769A>C (p.Met1257Leu) c.3724A>C (p.Met1242Leu) n.3976A>C c.3877A>C (p.Met1293Leu) c.2782A>C (p.Met928Leu) c.2371A>C (p.Met791Leu) n.3894A>C | |
5 | g.13870832T= | CA1528476343 | DNAH5 | c.3769A= (p.Met1257=) c.3724A= (p.Met1242=) n.3976A= c.3877A= (p.Met1293=) c.2782A= (p.Met928=) c.2371A= (p.Met791=) n.3894A= | |
5 | g.13870833T>A | CA443535308 | DNAH5 | c.3768A>T (p.Ala1256=) c.3723A>T (p.Ala1241=) n.3975A>T c.3876A>T (p.Ala1292=) c.2781A>T (p.Ala927=) c.2370A>T (p.Ala790=) n.3893A>T | |
5 | g.13870833T>C | CA443535309 | DNAH5 | c.3768A>G (p.Ala1256=) c.3723A>G (p.Ala1241=) n.3975A>G c.3876A>G (p.Ala1292=) c.2781A>G (p.Ala927=) c.2370A>G (p.Ala790=) n.3893A>G | |
5 | g.13870833T>G | CA443535310 | DNAH5 | c.3768A>C (p.Ala1256=) c.3723A>C (p.Ala1241=) n.3975A>C c.3876A>C (p.Ala1292=) c.2781A>C (p.Ala927=) c.2370A>C (p.Ala790=) n.3893A>C | |
5 | g.13870834G>A | CA3204179 | DNAH5 | c.3767C>T (p.Ala1256Val) c.3722C>T (p.Ala1241Val) n.3974C>T c.3875C>T (p.Ala1292Val) c.2780C>T (p.Ala927Val) c.2369C>T (p.Ala790Val) n.3892C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13870834G>C | CA359231572 | DNAH5 | c.3767C>G (p.Ala1256Gly) c.3722C>G (p.Ala1241Gly) n.3974C>G c.3875C>G (p.Ala1292Gly) c.2780C>G (p.Ala927Gly) c.2369C>G (p.Ala790Gly) n.3892C>G | |
5 | g.13870834G= | CA1528476346 | DNAH5 | c.3767C= (p.Ala1256=) c.3722C= (p.Ala1241=) n.3974C= c.3875C= (p.Ala1292=) c.2780C= (p.Ala927=) c.2369C= (p.Ala790=) n.3892C= | |
5 | g.13870834G>T | CA359231573 | DNAH5 | c.3767C>A (p.Ala1256Glu) c.3722C>A (p.Ala1241Glu) n.3974C>A c.3875C>A (p.Ala1292Glu) c.2780C>A (p.Ala927Glu) c.2369C>A (p.Ala790Glu) n.3892C>A | |
5 | g.13870834_13870835insACTTT | CA2580072050 | DNAH5 | c.3766_3767insAAAGT (p.Ala1256GlufsTer7) c.3721_3722insAAAGT (p.Ala1241GlufsTer7) n.3973_3974insAAAGT c.3874_3875insAAAGT (p.Ala1292GlufsTer7) c.2779_2780insAAAGT (p.Ala927GlufsTer7) c.2368_2369insAAAGT (p.Ala790GlufsTer7) n.3891_3892insAAAGT | ClinVar |
5 | g.13870835C>A | CA359231578 | DNAH5 | c.3766G>T (p.Ala1256Ser) c.3721G>T (p.Ala1241Ser) n.3973G>T c.3874G>T (p.Ala1292Ser) c.2779G>T (p.Ala927Ser) c.2368G>T (p.Ala790Ser) n.3891G>T | |
5 | g.13870835C= | CA1528476348 | DNAH5 | c.3766G= (p.Ala1256=) c.3721G= (p.Ala1241=) n.3973G= c.3874G= (p.Ala1292=) c.2779G= (p.Ala927=) c.2368G= (p.Ala790=) n.3891G= | |
5 | g.13870835C>G | CA359231592 | DNAH5 | c.3766G>C (p.Ala1256Pro) c.3721G>C (p.Ala1241Pro) n.3973G>C c.3874G>C (p.Ala1292Pro) c.2779G>C (p.Ala927Pro) c.2368G>C (p.Ala790Pro) n.3891G>C | |
5 | g.13870835C>T | CA113981312 | DNAH5 | c.3766G>A (p.Ala1256Thr) c.3721G>A (p.Ala1241Thr) n.3973G>A c.3874G>A (p.Ala1292Thr) c.2779G>A (p.Ala927Thr) c.2368G>A (p.Ala790Thr) n.3891G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13870836A>C | CA359231607 | DNAH5 | c.3765T>G (p.Ile1255Met) c.3720T>G (p.Ile1240Met) n.3972T>G c.3873T>G (p.Ile1291Met) c.2778T>G (p.Ile926Met) c.2367T>G (p.Ile789Met) n.3890T>G | |
5 | g.13870836A>G | CA443535312 | DNAH5 | c.3765T>C (p.Ile1255=) c.3720T>C (p.Ile1240=) n.3972T>C c.3873T>C (p.Ile1291=) c.2778T>C (p.Ile926=) c.2367T>C (p.Ile789=) n.3890T>C | |
5 | g.13870836A>T | CA443535311 | DNAH5 | c.3765T>A (p.Ile1255=) c.3720T>A (p.Ile1240=) n.3972T>A c.3873T>A (p.Ile1291=) c.2778T>A (p.Ile926=) c.2367T>A (p.Ile789=) n.3890T>A |