6 | g.7577035_7577039del | CA005670 | DSP | c.2870_2874del (p.Ser957Ter)
| ClinVar dbSNP |
6 | g.7577038_7577043delinsTTAAGG | CA1608609931 | DSP | c.2873_2877+1delinsTTAAGG
| |
6 | g.7577039T>A | CA448530397 | DSP | c.2874T>A (p.Ile958=)
| gnomAD v4 |
6 | g.7577039T>C | CA448530401 | DSP | c.2874T>C (p.Ile958=)
| |
6 | g.7577039T>G | CA362682328 | DSP | c.2874T>G (p.Ile958Met)
| dbSNP |
6 | g.7577039T= | CA1608609935 | DSP | c.2874T= (p.Ile958=)
| |
6 | g.7577041_7577045del | CA185898 | DSP | c.2876_2877+3del
| ClinVar dbSNP |
6 | g.7577040A>C | CA362682329 | DSP | c.2875A>C (p.Lys959Gln)
| |
6 | g.7577040A>G | CA362682330 | DSP | c.2875A>G (p.Lys959Glu)
| |
6 | g.7577040A>T | CA362682331 | DSP | c.2875A>T (p.Lys959Ter)
| |
6 | g.7577041A= | CA1608609940 | DSP | c.2876A= (p.Lys959=)
| |
6 | g.7577041A>C | CA362682332 | DSP | c.2876A>C (p.Lys959Thr)
| ClinVar |
6 | g.7577041A>G | CA362682333 | DSP | c.2876A>G (p.Lys959Arg)
| dbSNP |
6 | g.7577041A>T | CA362682334 | DSP | c.2876A>T (p.Lys959Met)
| |
6 | g.7577042G>A | CA448530410 | DSP | c.2877G>A (p.Lys959=)
| |
6 | g.7577042G>C | CA362682336 | DSP | c.2877G>C (p.Lys959Asn)
| |
6 | g.7577042G>T | CA362682335 | DSP | c.2877G>T (p.Lys959Asn)
| |
6 | g.7577043G>A | CA362682337 | DSP | c.2877+1G>A (n.2877+1G>A)
| ClinVar dbSNP |
6 | g.7577043G>C | CA362682339 | DSP | c.2877+1G>C (n.2877+1G>C)
| |
6 | g.7577043G>T | CA362682338 | DSP | c.2877+1G>T (n.2877+1G>T)
| |
6 | g.7577044T>A | CA362682340 | DSP | c.2877+2T>A (n.2877+2T>A)
| |
6 | g.7577044T>C | CA362682341 | DSP | c.2877+2T>C (n.2877+2T>C)
| ClinVar dbSNP |
6 | g.7577044T>G | CA362682342 | DSP | c.2877+2T>G (n.2877+2T>G)
| |
6 | g.7577053_7577070del | CA2677224142 | DSP | c.2877+11_2877+28del (n.2877+11_2877+28del)
| gnomAD v4 |
6 | g.7577049_7577156del | CA2677224145 | DSP | c.2877+7_2877+114del (n.2877+7_2877+114del)
| gnomAD v4 |
6 | g.7577047G>A | CA2677224146 | DSP | c.2877+5G>A (n.2877+5G>A)
| gnomAD v4 |
6 | g.7577048T>A | CA2499218546 | DSP | c.2877+6T>A (n.2877+6T>A)
| ClinVar dbSNP |
6 | g.7577048T>C | CA828075539 | DSP | c.2877+6T>C (n.2877+6T>C)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.7577048T>G | CA828075544 | DSP | c.2877+6T>G (n.2877+6T>G)
| dbSNP |
6 | g.7577048T= | CA1608609943 | DSP | c.2877+6T= (n.2877+6T=)
| |
6 | g.7577049T>C | CA1608609950 | DSP | c.2877+7T>C (n.2877+7T>C)
| dbSNP |
6 | g.7577049T= | CA1608609948 | DSP | c.2877+7T= (n.2877+7T=)
| |
6 | g.7577050G>A | CA2677224148 | DSP | c.2877+8G>A (n.2877+8G>A)
| gnomAD v4 |
6 | g.7577050G>C | CA2677224149 | DSP | c.2877+8G>C (n.2877+8G>C)
| gnomAD v4 |
6 | g.7577051G>A | CA2677224153 | DSP | c.2877+9G>A (n.2877+9G>A)
| gnomAD v4 |
6 | g.7577051G>C | CA2677224161 | DSP | c.2877+9G>C (n.2877+9G>C)
| gnomAD v4 |
6 | g.7577051G= | CA1608609955 | DSP | c.2877+9G= (n.2877+9G=)
| |
6 | g.7577051G>T | CA1085706098 | DSP | c.2877+9G>T (n.2877+9G>T)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7577052T>C | CA2677224202 | DSP | c.2877+10T>C (n.2877+10T>C)
| gnomAD v4 |
6 | g.7577053T>G | CA2677224204 | DSP | c.2877+11T>G (n.2877+11T>G)
| gnomAD v4 |
6 | g.7577055C>A | CA2677224205 | DSP | c.2877+13C>A (n.2877+13C>A)
| gnomAD v4 |
6 | g.7577056A= | CA1608609963 | DSP | c.2877+14A= (n.2877+14A=)
| |
6 | g.7577056A>G | CA1085706099 | DSP | c.2877+14A>G (n.2877+14A>G)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.7577056_7577068delinsATAAAGAATGTTG | CA1608609958 | DSP | c.2877+14_2877+26delinsATAAAGAATGTTG (n.2877+14_2877+26delinsATAAAGAATGTTG)
| |
6 | g.7577057T>G | CA2677224208 | DSP | c.2877+15T>G (n.2877+15T>G)
| gnomAD v4 |
6 | g.7577057_7577068del | CA565105476 | DSP | c.2877+15_2877+26del (n.2877+15_2877+26del)
| dbSNP gnomAD v2 |
6 | g.7577058A= | CA1608609972 | DSP | c.2877+16A= (n.2877+16A=)
| |
6 | g.7577058A>G | CA133964715 | DSP | c.2877+16A>G (n.2877+16A>G)
| dbSNP |
6 | g.7577058_7577059insTTTTT | CA565105477 | DSP | c.2877+16_2877+17insTTTTT (n.2877+16_2877+17insTTTTT)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.7577059A>G | CA2677224212 | DSP | c.2877+17A>G (n.2877+17A>G)
| gnomAD v4 |