UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154945136_154948644dup | CA2580612538 | F8 | c.1904-736_2113+2563dup c.*1779+5249_*1779+8757dup (n.*1779+5249_*1779+8757dup) c.1799-736_2008+2563dup | ClinVar |
| X | g.154947658C>A | CA2695168932 | F8 | c.2113+40G>T (n.2113+40G>T) c.*1779+6234G>T (n.*1779+6234G>T) c.2008+40G>T (n.2008+40G>T) | gnomAD v4 |
| X | g.154947658C= | CA2466842503 | F8 | c.2113+40G= (n.2113+40G=) c.*1779+6234G= (n.*1779+6234G=) c.2008+40G= (n.2008+40G=) | |
| X | g.154947658C>G | CA10568365 | F8 | c.2113+40G>C (n.2113+40G>C) c.*1779+6234G>C (n.*1779+6234G>C) c.2008+40G>C (n.2008+40G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154947661T>C | CA2695168933 | F8 | c.2113+37A>G (n.2113+37A>G) c.*1779+6231A>G (n.*1779+6231A>G) c.2008+37A>G (n.2008+37A>G) | gnomAD v4 |
| X | g.154947665A>T | CA2579744642 | F8 | c.2113+33T>A (n.2113+33T>A) c.*1779+6227T>A (n.*1779+6227T>A) c.2008+33T>A (n.2008+33T>A) | |
| X | g.154947666G>T | CA2695168934 | F8 | c.2113+32C>A (n.2113+32C>A) c.*1779+6226C>A (n.*1779+6226C>A) c.2008+32C>A (n.2008+32C>A) | gnomAD v4 |
| X | g.154947667C>A | CA2695168935 | F8 | c.2113+31G>T (n.2113+31G>T) c.*1779+6225G>T (n.*1779+6225G>T) c.2008+31G>T (n.2008+31G>T) | gnomAD v4 |
| X | g.154947669G>A | CA873350099 | F8 | c.2113+29C>T (n.2113+29C>T) c.*1779+6223C>T (n.*1779+6223C>T) c.2008+29C>T (n.2008+29C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154947669G= | CA2466842504 | F8 | c.2113+29C= (n.2113+29C=) c.*1779+6223C= (n.*1779+6223C=) c.2008+29C= (n.2008+29C=) | |
| X | g.154947669G>T | CA2695168936 | F8 | c.2113+29C>A (n.2113+29C>A) c.*1779+6223C>A (n.*1779+6223C>A) c.2008+29C>A (n.2008+29C>A) | gnomAD v4 |
| X | g.154947670T>C | CA645292819 | F8 | c.2113+28A>G (n.2113+28A>G) c.*1779+6222A>G (n.*1779+6222A>G) c.2008+28A>G (n.2008+28A>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154947670T= | CA2466842505 | F8 | c.2113+28A= (n.2113+28A=) c.*1779+6222A= (n.*1779+6222A=) c.2008+28A= (n.2008+28A=) | |
| X | g.154947672G>T | CA2695168937 | F8 | c.2113+26C>A (n.2113+26C>A) c.*1779+6220C>A (n.*1779+6220C>A) c.2008+26C>A (n.2008+26C>A) | gnomAD v4 |
| X | g.154947673G>T | CA2695168938 | F8 | c.2113+25C>A (n.2113+25C>A) c.*1779+6219C>A (n.*1779+6219C>A) c.2008+25C>A (n.2008+25C>A) | gnomAD v4 |
| X | g.154947674T>C | CA2695168939 | F8 | c.2113+24A>G (n.2113+24A>G) c.*1779+6218A>G (n.*1779+6218A>G) c.2008+24A>G (n.2008+24A>G) | gnomAD v4 |
| X | g.154947675A>G | CA2695168940 | F8 | c.2113+23T>C (n.2113+23T>C) c.*1779+6217T>C (n.*1779+6217T>C) c.2008+23T>C (n.2008+23T>C) | gnomAD v4 |
| X | g.154947676C>A | CA645292820 | F8 | c.2113+22G>T (n.2113+22G>T) c.*1779+6216G>T (n.*1779+6216G>T) c.2008+22G>T (n.2008+22G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154947676C= | CA2466842506 | F8 | c.2113+22G= (n.2113+22G=) c.*1779+6216G= (n.*1779+6216G=) c.2008+22G= (n.2008+22G=) | |
| X | g.154947679G>T | CA2695168941 | F8 | c.2113+19C>A (n.2113+19C>A) c.*1779+6213C>A (n.*1779+6213C>A) c.2008+19C>A (n.2008+19C>A) | dbSNP gnomAD v4 |
| X | g.154947679_154947680delinsGA | CA2466842507 | F8 | c.2113+18_2113+19delinsTC (n.2113+18_2113+19delinsTC) c.*1779+6212_*1779+6213delinsTC (n.*1779+6212_*1779+6213delinsTC) c.2008+18_2008+19delinsTC (n.2008+18_2008+19delinsTC) | |
| X | g.154947684del | CA873350101 | F8 | c.2113+18del (n.2113+18del) c.*1779+6212del (n.*1779+6212del) c.2008+18del (n.2008+18del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154947684A= | CA2466842508 | F8 | c.2113+14T= (n.2113+14T=) c.*1779+6208T= (n.*1779+6208T=) c.2008+14T= (n.2008+14T=) | |
| X | g.154947684A>G | CA1138601165 | F8 | c.2113+14T>C (n.2113+14T>C) c.*1779+6208T>C (n.*1779+6208T>C) c.2008+14T>C (n.2008+14T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154947686A= | CA2466842509 | F8 | c.2113+12T= (n.2113+12T=) c.*1779+6206T= (n.*1779+6206T=) c.2008+12T= (n.2008+12T=) | |
| X | g.154947686A>T | CA2466842510 | F8 | c.2113+12T>A (n.2113+12T>A) c.*1779+6206T>A (n.*1779+6206T>A) c.2008+12T>A (n.2008+12T>A) | dbSNP gnomAD v4 |
| X | g.154947687T>A | CA2695168942 | F8 | c.2113+11A>T (n.2113+11A>T) c.*1779+6205A>T (n.*1779+6205A>T) c.2008+11A>T (n.2008+11A>T) | gnomAD v4 |
| X | g.154947687T>C | CA2579744643 | F8 | c.2113+11A>G (n.2113+11A>G) c.*1779+6205A>G (n.*1779+6205A>G) c.2008+11A>G (n.2008+11A>G) | gnomAD v4 |
| X | g.154947689A>G | CA2695168943 | F8 | c.2113+9T>C (n.2113+9T>C) c.*1779+6203T>C (n.*1779+6203T>C) c.2008+9T>C (n.2008+9T>C) | gnomAD v4 |
| X | g.154947690T>C | CA2695168944 | F8 | c.2113+8A>G (n.2113+8A>G) c.*1779+6202A>G (n.*1779+6202A>G) c.2008+8A>G (n.2008+8A>G) | gnomAD v4 |
| X | g.154947694_154947697del | CA2695237194 | F8 | c.2113+5_2113+8del (n.2113+5_2113+8del) c.*1779+6199_*1779+6202del (n.*1779+6199_*1779+6202del) c.2008+5_2008+8del (n.2008+5_2008+8del) | |
| X | g.154947691A>C | CA2695168945 | F8 | c.2113+7T>G (n.2113+7T>G) c.*1779+6201T>G (n.*1779+6201T>G) c.2008+7T>G (n.2008+7T>G) | gnomAD v4 |
| X | g.154947691A>G | CA2579744644 | F8 | c.2113+7T>C (n.2113+7T>C) c.*1779+6201T>C (n.*1779+6201T>C) c.2008+7T>C (n.2008+7T>C) | |
| X | g.154947693C>T | CA2695237195 | F8 | c.2113+5G>A (n.2113+5G>A) c.*1779+6199G>A (n.*1779+6199G>A) c.2008+5G>A (n.2008+5G>A) | |
| X | g.154947695A= | CA2466842511 | F8 | c.2113+3T= (n.2113+3T=) c.*1779+6197T= (n.*1779+6197T=) c.2008+3T= (n.2008+3T=) | |
| X | g.154947695A>G | CA2466842512 | F8 | c.2113+3T>C (n.2113+3T>C) c.*1779+6197T>C (n.*1779+6197T>C) c.2008+3T>C (n.2008+3T>C) | dbSNP gnomAD v4 |
| X | g.154947696A>C | CA414908847 | F8 | c.2113+2T>G (n.2113+2T>G) c.*1779+6196T>G (n.*1779+6196T>G) c.2008+2T>G (n.2008+2T>G) | |
| X | g.154947696A>G | CA414908849 | F8 | c.2113+2T>C (n.2113+2T>C) c.*1779+6196T>C (n.*1779+6196T>C) c.2008+2T>C (n.2008+2T>C) | |
| X | g.154947696A>T | CA414908850 | F8 | c.2113+2T>A (n.2113+2T>A) c.*1779+6196T>A (n.*1779+6196T>A) c.2008+2T>A (n.2008+2T>A) | |
| X | g.154947697C>A | CA414908852 | F8 | c.2113+1G>T (n.2113+1G>T) c.*1779+6195G>T (n.*1779+6195G>T) c.2008+1G>T (n.2008+1G>T) | |
| X | g.154947697C= | CA2466842513 | F8 | c.2113+1G= (n.2113+1G=) c.*1779+6195G= (n.*1779+6195G=) c.2008+1G= (n.2008+1G=) | |
| X | g.154947697C>G | CA414908854 | F8 | c.2113+1G>C (n.2113+1G>C) c.*1779+6195G>C (n.*1779+6195G>C) c.2008+1G>C (n.2008+1G>C) | dbSNP |
| X | g.154947697C>T | CA414908855 | F8 | c.2113+1G>A (n.2113+1G>A) c.*1779+6195G>A (n.*1779+6195G>A) c.2008+1G>A (n.2008+1G>A) | |
| X | g.154947698C>A | CA414908858 | F8 | c.2113G>T (p.Gly705Cys) c.*1779+6194G>T (n.*1779+6194G>T) c.2008G>T (p.Gly670Cys) | |
| X | g.154947698C= | CA2466842514 | F8 | c.2113G= (p.Gly705=) c.*1779+6194G= (n.*1779+6194G=) c.2008G= (p.Gly670=) | |
| X | g.154947698C>G | CA414908862 | F8 | c.2113G>C (p.Gly705Arg) c.*1779+6194G>C (n.*1779+6194G>C) c.2008G>C (p.Gly670Arg) | dbSNP |
| X | g.154947698C>T | CA414908860 | F8 | c.2113G>A (p.Gly705Ser) c.*1779+6194G>A (n.*1779+6194G>A) c.2008G>A (p.Gly670Ser) | |
| X | g.154947699T>A | CA519356290 | F8 | c.2112A>T (p.Pro704=) c.*1779+6193A>T (n.*1779+6193A>T) c.2007A>T (p.Pro669=) | |
| X | g.154947699T>C | CA519356291 | F8 | c.2112A>G (p.Pro704=) c.*1779+6193A>G (n.*1779+6193A>G) c.2007A>G (p.Pro669=) | gnomAD v4 |
| X | g.154947699T>G | CA519356292 | F8 | c.2112A>C (p.Pro704=) c.*1779+6193A>C (n.*1779+6193A>C) c.2007A>C (p.Pro669=) | |
| X | g.154947700G>A | CA414908864 | F8 | c.2111C>T (p.Pro704Leu) c.*1779+6192C>T (n.*1779+6192C>T) c.2006C>T (p.Pro669Leu) | |
| X | g.154947700G>C | CA414908866 | F8 | c.2111C>G (p.Pro704Arg) c.*1779+6192C>G (n.*1779+6192C>G) c.2006C>G (p.Pro669Arg) | |
| X | g.154947700G>T | CA414908869 | F8 | c.2111C>A (p.Pro704Gln) c.*1779+6192C>A (n.*1779+6192C>A) c.2006C>A (p.Pro669Gln) | |
| X | g.154947702del | CA2695237196 | F8 | c.2111del (p.Pro704GlnfsTer18) c.*1779+6192del (n.*1779+6192del) c.2006del (p.Pro669GlnfsTer18) | |
| X | g.154947701G>A | CA10568366 | F8 | c.2110C>T (p.Pro704Ser) c.*1779+6191C>T (n.*1779+6191C>T) c.2005C>T (p.Pro669Ser) | dbSNP ExAC COSMIC COSMIC |
| X | g.154947701G>C | CA414908872 | F8 | c.2110C>G (p.Pro704Ala) c.*1779+6191C>G (n.*1779+6191C>G) c.2005C>G (p.Pro669Ala) | |
| X | g.154947701G= | CA2466842515 | F8 | c.2110C= (p.Pro704=) c.*1779+6191C= (n.*1779+6191C=) c.2005C= (p.Pro669=) | |
| X | g.154947701G>T | CA414908875 | F8 | c.2110C>A (p.Pro704Thr) c.*1779+6191C>A (n.*1779+6191C>A) c.2005C>A (p.Pro669Thr) | |
| X | g.154947702G>A | CA519356294 | F8 | c.2109C>T (p.Asn703=) c.*1779+6190C>T (n.*1779+6190C>T) c.2004C>T (p.Asn668=) | |
| X | g.154947702G>C | CA414908878 | F8 | c.2109C>G (p.Asn703Lys) c.*1779+6190C>G (n.*1779+6190C>G) c.2004C>G (p.Asn668Lys) | |
| X | g.154947702G>T | CA414908884 | F8 | c.2109C>A (p.Asn703Lys) c.*1779+6190C>A (n.*1779+6190C>A) c.2004C>A (p.Asn668Lys) | |
| X | g.154947703T>A | CA414908887 | F8 | c.2108A>T (p.Asn703Ile) c.*1779+6189A>T (n.*1779+6189A>T) c.2003A>T (p.Asn668Ile) | |
| X | g.154947703T>C | CA414908889 | F8 | c.2108A>G (p.Asn703Ser) c.*1779+6189A>G (n.*1779+6189A>G) c.2003A>G (p.Asn668Ser) | |
| X | g.154947703T>G | CA414908892 | F8 | c.2108A>C (p.Asn703Thr) c.*1779+6189A>C (n.*1779+6189A>C) c.2003A>C (p.Asn668Thr) | |
| X | g.154947704T>A | CA414908898 | F8 | c.2107A>T (p.Asn703Tyr) c.*1779+6188A>T (n.*1779+6188A>T) c.2002A>T (p.Asn668Tyr) | |
| X | g.154947704T>C | CA414908894 | F8 | c.2107A>G (p.Asn703Asp) c.*1779+6188A>G (n.*1779+6188A>G) c.2002A>G (p.Asn668Asp) | |
| X | g.154947704T>G | CA414908896 | F8 | c.2107A>C (p.Asn703His) c.*1779+6188A>C (n.*1779+6188A>C) c.2002A>C (p.Asn668His) | |
| X | g.154947705T>A | CA414908901 | F8 | c.2106A>T (p.Glu702Asp) c.*1779+6187A>T (n.*1779+6187A>T) c.2001A>T (p.Glu667Asp) | |
| X | g.154947705T>C | CA519356296 | F8 | c.2106A>G (p.Glu702=) c.*1779+6187A>G (n.*1779+6187A>G) c.2001A>G (p.Glu667=) | |
| X | g.154947705T>G | CA414908906 | F8 | c.2106A>C (p.Glu702Asp) c.*1779+6187A>C (n.*1779+6187A>C) c.2001A>C (p.Glu667Asp) | |
| X | g.154947706_154947710del | CA2695237197 | F8 | c.2102_2106del (p.Met701LysfsTer27) c.*1779+6183_*1779+6187del (n.*1779+6183_*1779+6187del) c.1997_2001del (p.Met666LysfsTer27) | |
| X | g.154947706T>A | CA414908910 | F8 | c.2105A>T (p.Glu702Val) c.*1779+6186A>T (n.*1779+6186A>T) c.2000A>T (p.Glu667Val) | |
| X | g.154947706T>C | CA414908911 | F8 | c.2105A>G (p.Glu702Gly) c.*1779+6186A>G (n.*1779+6186A>G) c.2000A>G (p.Glu667Gly) | gnomAD v4 |
| X | g.154947706T>G | CA414908912 | F8 | c.2105A>C (p.Glu702Ala) c.*1779+6186A>C (n.*1779+6186A>C) c.2000A>C (p.Glu667Ala) | |
| X | g.154947707C>A | CA414908916 | F8 | c.2104G>T (p.Glu702Ter) c.*1779+6185G>T (n.*1779+6185G>T) c.1999G>T (p.Glu667Ter) | |
| X | g.154947707C>G | CA414908919 | F8 | c.2104G>C (p.Glu702Gln) c.*1779+6185G>C (n.*1779+6185G>C) c.1999G>C (p.Glu667Gln) | |
| X | g.154947707C>T | CA414908921 | F8 | c.2104G>A (p.Glu702Lys) c.*1779+6185G>A (n.*1779+6185G>A) c.1999G>A (p.Glu667Lys) | |
| X | g.154947708C>A | CA414908925 | F8 | c.2103G>T (p.Met701Ile) c.*1779+6184G>T (n.*1779+6184G>T) c.1998G>T (p.Met666Ile) | |
| X | g.154947708C= | CA2466842516 | F8 | c.2103G= (p.Met701=) c.*1779+6184G= (n.*1779+6184G=) c.1998G= (p.Met666=) | |
| X | g.154947708C>G | CA414908927 | F8 | c.2103G>C (p.Met701Ile) c.*1779+6184G>C (n.*1779+6184G>C) c.1998G>C (p.Met666Ile) | |
| X | g.154947708C>T | CA414908928 | F8 | c.2103G>A (p.Met701Ile) c.*1779+6184G>A (n.*1779+6184G>A) c.1998G>A (p.Met666Ile) | ClinVar dbSNP |
| X | g.154947709del | CA2695237198 | F8 | c.2102del (p.Met701ArgfsTer21) c.*1779+6183del (n.*1779+6183del) c.1997del (p.Met666ArgfsTer21) | |
| X | g.154947709A>C | CA414908935 | F8 | c.2102T>G (p.Met701Arg) c.*1779+6183T>G (n.*1779+6183T>G) c.1997T>G (p.Met666Arg) | |
| X | g.154947709A>G | CA414908933 | F8 | c.2102T>C (p.Met701Thr) c.*1779+6183T>C (n.*1779+6183T>C) c.1997T>C (p.Met666Thr) | |
| X | g.154947709A>T | CA414908931 | F8 | c.2102T>A (p.Met701Lys) c.*1779+6183T>A (n.*1779+6183T>A) c.1997T>A (p.Met666Lys) | |
| X | g.154947710T>A | CA414908941 | F8 | c.2101A>T (p.Met701Leu) c.*1779+6182A>T (n.*1779+6182A>T) c.1996A>T (p.Met666Leu) | |
| X | g.154947710T>C | CA414908938 | F8 | c.2101A>G (p.Met701Val) c.*1779+6182A>G (n.*1779+6182A>G) c.1996A>G (p.Met666Val) | ClinVar dbSNP |
| X | g.154947710T>G | CA414908944 | F8 | c.2101A>C (p.Met701Leu) c.*1779+6182A>C (n.*1779+6182A>C) c.1996A>C (p.Met666Leu) | dbSNP |
| X | g.154947710T= | CA2466842517 | F8 | c.2101A= (p.Met701=) c.*1779+6182A= (n.*1779+6182A=) c.1996A= (p.Met666=) | |
| X | g.154947710_154947711delinsAA | CA2695237199 | F8 | c.2100_2101delinsTT (p.Met701Leu) c.*1779+6181_*1779+6182delinsTT (n.*1779+6181_*1779+6182delinsTT) c.1995_1996delinsTT (p.Met666Leu) | |
| X | g.154947711C>A | CA519356298 | F8 | c.2100G>T (p.Ser700=) c.*1779+6181G>T (n.*1779+6181G>T) c.1995G>T (p.Ser665=) | gnomAD v4 |
| X | g.154947711C= | CA2466842518 | F8 | c.2100G= (p.Ser700=) c.*1779+6181G= (n.*1779+6181G=) c.1995G= (p.Ser665=) | |
| X | g.154947711C>G | CA519356299 | F8 | c.2100G>C (p.Ser700=) c.*1779+6181G>C (n.*1779+6181G>C) c.1995G>C (p.Ser665=) | gnomAD v4 COSMIC COSMIC |
| X | g.154947711C>T | CA519356300 | F8 | c.2100G>A (p.Ser700=) c.*1779+6181G>A (n.*1779+6181G>A) c.1995G>A (p.Ser665=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154947712G>A | CA414908947 | F8 | c.2099C>T (p.Ser700Leu) c.*1779+6180C>T (n.*1779+6180C>T) c.1994C>T (p.Ser665Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.154947712G>C | CA414908950 | F8 | c.2099C>G (p.Ser700Trp) c.*1779+6180C>G (n.*1779+6180C>G) c.1994C>G (p.Ser665Trp) | |
| X | g.154947712G= | CA2466842519 | F8 | c.2099C= (p.Ser700=) c.*1779+6180C= (n.*1779+6180C=) c.1994C= (p.Ser665=) | |
| X | g.154947712G>T | CA414908952 | F8 | c.2099C>A (p.Ser700Ter) c.*1779+6180C>A (n.*1779+6180C>A) c.1994C>A (p.Ser665Ter) | dbSNP |
| X | g.154947713A= | CA2466842520 | F8 | c.2098T= (p.Ser700=) c.*1779+6179T= (n.*1779+6179T=) c.1993T= (p.Ser665=) | |
| X | g.154947713A>C | CA414908953 | F8 | c.2098T>G (p.Ser700Ala) c.*1779+6179T>G (n.*1779+6179T>G) c.1993T>G (p.Ser665Ala) | |
| X | g.154947713A>G | CA414908958 | F8 | c.2098T>C (p.Ser700Pro) c.*1779+6179T>C (n.*1779+6179T>C) c.1993T>C (p.Ser665Pro) | ClinVar dbSNP |
| X | g.154947713A>T | CA414908960 | F8 | c.2098T>A (p.Ser700Thr) c.*1779+6179T>A (n.*1779+6179T>A) c.1993T>A (p.Ser665Thr) | |
| X | g.154947714C>A | CA414908961 | F8 | c.2097G>T (p.Met699Ile) c.*1779+6178G>T (n.*1779+6178G>T) c.1992G>T (p.Met664Ile) | |
| X | g.154947714C>G | CA414908964 | F8 | c.2097G>C (p.Met699Ile) c.*1779+6178G>C (n.*1779+6178G>C) c.1992G>C (p.Met664Ile) | |
| X | g.154947714C>T | CA414908971 | F8 | c.2097G>A (p.Met699Ile) c.*1779+6178G>A (n.*1779+6178G>A) c.1992G>A (p.Met664Ile) | |
| X | g.154947715A>C | CA414908974 | F8 | c.2096T>G (p.Met699Arg) c.*1779+6177T>G (n.*1779+6177T>G) c.1991T>G (p.Met664Arg) | |
| X | g.154947715A>G | CA414908978 | F8 | c.2096T>C (p.Met699Thr) c.*1779+6177T>C (n.*1779+6177T>C) c.1991T>C (p.Met664Thr) | gnomAD v4 |
| X | g.154947715A>T | CA414908980 | F8 | c.2096T>A (p.Met699Lys) c.*1779+6177T>A (n.*1779+6177T>A) c.1991T>A (p.Met664Lys) | |
| X | g.154947716T>A | CA414908984 | F8 | c.2095A>T (p.Met699Leu) c.*1779+6176A>T (n.*1779+6176A>T) c.1990A>T (p.Met664Leu) | |
| X | g.154947716T>C | CA414908982 | F8 | c.2095A>G (p.Met699Val) c.*1779+6176A>G (n.*1779+6176A>G) c.1990A>G (p.Met664Val) | |
| X | g.154947716T>G | CA414908983 | F8 | c.2095A>C (p.Met699Leu) c.*1779+6176A>C (n.*1779+6176A>C) c.1990A>C (p.Met664Leu) | |
| X | g.154947717G>A | CA519356313 | F8 | c.2094C>T (p.Phe698=) c.*1779+6175C>T (n.*1779+6175C>T) c.1989C>T (p.Phe663=) | |
| X | g.154947717G>C | CA414908985 | F8 | c.2094C>G (p.Phe698Leu) c.*1779+6175C>G (n.*1779+6175C>G) c.1989C>G (p.Phe663Leu) | |
| X | g.154947717G>T | CA414908986 | F8 | c.2094C>A (p.Phe698Leu) c.*1779+6175C>A (n.*1779+6175C>A) c.1989C>A (p.Phe663Leu) | |
| X | g.154947718A>C | CA414908988 | F8 | c.2093T>G (p.Phe698Cys) c.*1779+6174T>G (n.*1779+6174T>G) c.1988T>G (p.Phe663Cys) | |
| X | g.154947718A>G | CA414908990 | F8 | c.2093T>C (p.Phe698Ser) c.*1779+6174T>C (n.*1779+6174T>C) c.1988T>C (p.Phe663Ser) | |
| X | g.154947718A>T | CA414908992 | F8 | c.2093T>A (p.Phe698Tyr) c.*1779+6174T>A (n.*1779+6174T>A) c.1988T>A (p.Phe663Tyr) | |
| X | g.154947719A>C | CA414908995 | F8 | c.2092T>G (p.Phe698Val) c.*1779+6173T>G (n.*1779+6173T>G) c.1987T>G (p.Phe663Val) | ClinVar |
| X | g.154947719A>G | CA414908999 | F8 | c.2092T>C (p.Phe698Leu) c.*1779+6173T>C (n.*1779+6173T>C) c.1987T>C (p.Phe663Leu) | |
| X | g.154947719A>T | CA414909001 | F8 | c.2092T>A (p.Phe698Ile) c.*1779+6173T>A (n.*1779+6173T>A) c.1987T>A (p.Phe663Ile) | |
| X | g.154947720_154947721del | CA2695237200 | F8 | c.2091_2092del (p.Phe698HisfsTer?) c.*1779+6172_*1779+6173del (n.*1779+6172_*1779+6173del) c.1986_1987del (p.Phe663HisfsTer?) | |
| X | g.154947720G>A | CA519356320 | F8 | c.2091C>T (p.Val697=) c.*1779+6172C>T (n.*1779+6172C>T) c.1986C>T (p.Val662=) | |
| X | g.154947720G>C | CA519356322 | F8 | c.2091C>G (p.Val697=) c.*1779+6172C>G (n.*1779+6172C>G) c.1986C>G (p.Val662=) | |
| X | g.154947720G>T | CA519356323 | F8 | c.2091C>A (p.Val697=) c.*1779+6172C>A (n.*1779+6172C>A) c.1986C>A (p.Val662=) | |
| X | g.154947721A= | CA2466842521 | F8 | c.2090T= (p.Val697=) c.*1779+6171T= (n.*1779+6171T=) c.1985T= (p.Val662=) | |
| X | g.154947721A>C | CA414909002 | F8 | c.2090T>G (p.Val697Gly) c.*1779+6171T>G (n.*1779+6171T>G) c.1985T>G (p.Val662Gly) | |
| X | g.154947721A>G | CA414909005 | F8 | c.2090T>C (p.Val697Ala) c.*1779+6171T>C (n.*1779+6171T>C) c.1985T>C (p.Val662Ala) | |
| X | g.154947721A>T | CA414909008 | F8 | c.2090T>A (p.Val697Asp) c.*1779+6171T>A (n.*1779+6171T>A) c.1985T>A (p.Val662Asp) | dbSNP |
| X | g.154947722_154947723del | CA915940899 | F8 | c.2089_2090del (p.Val697LeufsTer?) c.*1779+6170_*1779+6171del (n.*1779+6170_*1779+6171del) c.1984_1985del (p.Val662LeufsTer?) | |
| X | g.154947722C>A | CA414909015 | F8 | c.2089G>T (p.Val697Phe) c.*1779+6170G>T (n.*1779+6170G>T) c.1984G>T (p.Val662Phe) | |
| X | g.154947722C>G | CA414909014 | F8 | c.2089G>C (p.Val697Leu) c.*1779+6170G>C (n.*1779+6170G>C) c.1984G>C (p.Val662Leu) | |
| X | g.154947722C>T | CA414909012 | F8 | c.2089G>A (p.Val697Ile) c.*1779+6170G>A (n.*1779+6170G>A) c.1984G>A (p.Val662Ile) | |
| X | g.154947723A>C | CA519356334 | F8 | c.2088T>G (p.Thr696=) c.*1779+6169T>G (n.*1779+6169T>G) c.1983T>G (p.Thr661=) | |
| X | g.154947723A>G | CA519356330 | F8 | c.2088T>C (p.Thr696=) c.*1779+6169T>C (n.*1779+6169T>C) c.1983T>C (p.Thr661=) | |
| X | g.154947723A>T | CA519356332 | F8 | c.2088T>A (p.Thr696=) c.*1779+6169T>A (n.*1779+6169T>A) c.1983T>A (p.Thr661=) | |
| X | g.154947725_154947746del | CA2695237201 | F8 | c.2067_2088del (p.Phe690SerfsTer25) c.*1779+6148_*1779+6169del (n.*1779+6148_*1779+6169del) c.1962_1983del (p.Phe655SerfsTer25) | |
| X | g.154947724G>A | CA414909018 | F8 | c.2087C>T (p.Thr696Ile) c.*1779+6168C>T (n.*1779+6168C>T) c.1982C>T (p.Thr661Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154947724G>C | CA414909016 | F8 | c.2087C>G (p.Thr696Ser) c.*1779+6168C>G (n.*1779+6168C>G) c.1982C>G (p.Thr661Ser) | |
| X | g.154947724G= | CA2466842522 | F8 | c.2087C= (p.Thr696=) c.*1779+6168C= (n.*1779+6168C=) c.1982C= (p.Thr661=) | |
| X | g.154947724G>T | CA414909017 | F8 | c.2087C>A (p.Thr696Asn) c.*1779+6168C>A (n.*1779+6168C>A) c.1982C>A (p.Thr661Asn) | |
| X | g.154947725T>A | CA414909020 | F8 | c.2086A>T (p.Thr696Ser) c.*1779+6167A>T (n.*1779+6167A>T) c.1981A>T (p.Thr661Ser) | |
| X | g.154947725T>C | CA414909023 | F8 | c.2086A>G (p.Thr696Ala) c.*1779+6167A>G (n.*1779+6167A>G) c.1981A>G (p.Thr661Ala) | |
| X | g.154947725T>G | CA414909025 | F8 | c.2086A>C (p.Thr696Pro) c.*1779+6167A>C (n.*1779+6167A>C) c.1981A>C (p.Thr661Pro) | |
| X | g.154947726T>A | CA414909029 | F8 | c.2085A>T (p.Glu695Asp) c.*1779+6166A>T (n.*1779+6166A>T) c.1980A>T (p.Glu660Asp) | |
| X | g.154947726T>C | CA519356342 | F8 | c.2085A>G (p.Glu695=) c.*1779+6166A>G (n.*1779+6166A>G) c.1980A>G (p.Glu660=) | |
| X | g.154947726T>G | CA414909032 | F8 | c.2085A>C (p.Glu695Asp) c.*1779+6166A>C (n.*1779+6166A>C) c.1980A>C (p.Glu660Asp) | |
| X | g.154947727T>A | CA414909035 | F8 | c.2084A>T (p.Glu695Val) c.*1779+6165A>T (n.*1779+6165A>T) c.1979A>T (p.Glu660Val) | |
| X | g.154947727T>C | CA414909038 | F8 | c.2084A>G (p.Glu695Gly) c.*1779+6165A>G (n.*1779+6165A>G) c.1979A>G (p.Glu660Gly) | |
| X | g.154947727T>G | CA414909040 | F8 | c.2084A>C (p.Glu695Ala) c.*1779+6165A>C (n.*1779+6165A>C) c.1979A>C (p.Glu660Ala) | |
| X | g.154947727_154947728delinsA | CA2695237202 | F8 | c.2083_2084delinsT (p.Glu695Ter) c.*1779+6164_*1779+6165delinsT (n.*1779+6164_*1779+6165delinsT) c.1978_1979delinsT (p.Glu660Ter) | |
| X | g.154947728C>A | CA414909050 | F8 | c.2083G>T (p.Glu695Ter) c.*1779+6164G>T (n.*1779+6164G>T) c.1978G>T (p.Glu660Ter) | |
| X | g.154947728C>G | CA414909053 | F8 | c.2083G>C (p.Glu695Gln) c.*1779+6164G>C (n.*1779+6164G>C) c.1978G>C (p.Glu660Gln) | |
| X | g.154947728C>T | CA414909057 | F8 | c.2083G>A (p.Glu695Lys) c.*1779+6164G>A (n.*1779+6164G>A) c.1978G>A (p.Glu660Lys) | |
| X | g.154947729T>A | CA519356353 | F8 | c.2082A>T (p.Gly694=) c.*1779+6163A>T (n.*1779+6163A>T) c.1977A>T (p.Gly659=) | |
| X | g.154947729T>C | CA519356350 | F8 | c.2082A>G (p.Gly694=) c.*1779+6163A>G (n.*1779+6163A>G) c.1977A>G (p.Gly659=) | |
| X | g.154947729T>G | CA519356352 | F8 | c.2082A>C (p.Gly694=) c.*1779+6163A>C (n.*1779+6163A>C) c.1977A>C (p.Gly659=) | |
| X | g.154947730C>A | CA414909060 | F8 | c.2081G>T (p.Gly694Val) c.*1779+6162G>T (n.*1779+6162G>T) c.1976G>T (p.Gly659Val) | |
| X | g.154947730C>G | CA414909065 | F8 | c.2081G>C (p.Gly694Ala) c.*1779+6162G>C (n.*1779+6162G>C) c.1976G>C (p.Gly659Ala) | |
| X | g.154947730C>T | CA414909062 | F8 | c.2081G>A (p.Gly694Glu) c.*1779+6162G>A (n.*1779+6162G>A) c.1976G>A (p.Gly659Glu) | COSMIC COSMIC |
| X | g.154947731C>A | CA414909068 | F8 | c.2080G>T (p.Gly694Ter) c.*1779+6161G>T (n.*1779+6161G>T) c.1975G>T (p.Gly659Ter) | |
| X | g.154947731C>G | CA414909070 | F8 | c.2080G>C (p.Gly694Arg) c.*1779+6161G>C (n.*1779+6161G>C) c.1975G>C (p.Gly659Arg) | |
| X | g.154947731C>T | CA414909073 | F8 | c.2080G>A (p.Gly694Arg) c.*1779+6161G>A (n.*1779+6161G>A) c.1975G>A (p.Gly659Arg) | |
| X | g.154947732del | CA2579744645 | F8 | c.2079del (p.Gly694GlufsTer28) c.*1779+6160del (n.*1779+6160del) c.1974del (p.Gly659GlufsTer28) | |
| X | g.154947732T>A | CA519356361 | F8 | c.2079A>T (p.Ser693=) c.*1779+6160A>T (n.*1779+6160A>T) c.1974A>T (p.Ser658=) | |
| X | g.154947732T>C | CA519356362 | F8 | c.2079A>G (p.Ser693=) c.*1779+6160A>G (n.*1779+6160A>G) c.1974A>G (p.Ser658=) | |
| X | g.154947732T>G | CA519356364 | F8 | c.2079A>C (p.Ser693=) c.*1779+6160A>C (n.*1779+6160A>C) c.1974A>C (p.Ser658=) | gnomAD v4 |
| X | g.154947733G>A | CA414909075 | F8 | c.2078C>T (p.Ser693Leu) c.*1779+6159C>T (n.*1779+6159C>T) c.1973C>T (p.Ser658Leu) | |
| X | g.154947733G>C | CA414909078 | F8 | c.2078C>G (p.Ser693Ter) c.*1779+6159C>G (n.*1779+6159C>G) c.1973C>G (p.Ser658Ter) | |
| X | g.154947733G>T | CA414909079 | F8 | c.2078C>A (p.Ser693Ter) c.*1779+6159C>A (n.*1779+6159C>A) c.1973C>A (p.Ser658Ter) | |
| X | g.154947734A>C | CA414909082 | F8 | c.2077T>G (p.Ser693Ala) c.*1779+6158T>G (n.*1779+6158T>G) c.1972T>G (p.Ser658Ala) | |
| X | g.154947734A>G | CA414909084 | F8 | c.2077T>C (p.Ser693Pro) c.*1779+6158T>C (n.*1779+6158T>C) c.1972T>C (p.Ser658Pro) | |
| X | g.154947734A>T | CA414909085 | F8 | c.2077T>A (p.Ser693Thr) c.*1779+6158T>A (n.*1779+6158T>A) c.1972T>A (p.Ser658Thr) | |
| X | g.154947735G>A | CA519356371 | F8 | c.2076C>T (p.Phe692=) c.*1779+6157C>T (n.*1779+6157C>T) c.1971C>T (p.Phe657=) | gnomAD v4 |
| X | g.154947735G>C | CA414909086 | F8 | c.2076C>G (p.Phe692Leu) c.*1779+6157C>G (n.*1779+6157C>G) c.1971C>G (p.Phe657Leu) | |
| X | g.154947735G>T | CA414909087 | F8 | c.2076C>A (p.Phe692Leu) c.*1779+6157C>A (n.*1779+6157C>A) c.1971C>A (p.Phe657Leu) | |
| X | g.154947736A= | CA2466842523 | F8 | c.2075T= (p.Phe692=) c.*1779+6156T= (n.*1779+6156T=) c.1970T= (p.Phe657=) | |
| X | g.154947736A>C | CA414909089 | F8 | c.2075T>G (p.Phe692Cys) c.*1779+6156T>G (n.*1779+6156T>G) c.1970T>G (p.Phe657Cys) | |
| X | g.154947736A>G | CA414909091 | F8 | c.2075T>C (p.Phe692Ser) c.*1779+6156T>C (n.*1779+6156T>C) c.1970T>C (p.Phe657Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154947736A>T | CA414909088 | F8 | c.2075T>A (p.Phe692Tyr) c.*1779+6156T>A (n.*1779+6156T>A) c.1970T>A (p.Phe657Tyr) | |
| X | g.154947737A>C | CA414909094 | F8 | c.2074T>G (p.Phe692Val) c.*1779+6155T>G (n.*1779+6155T>G) c.1969T>G (p.Phe657Val) | |
| X | g.154947737A>G | CA414909102 | F8 | c.2074T>C (p.Phe692Leu) c.*1779+6155T>C (n.*1779+6155T>C) c.1969T>C (p.Phe657Leu) | |
| X | g.154947737A>T | CA414909096 | F8 | c.2074T>A (p.Phe692Ile) c.*1779+6155T>A (n.*1779+6155T>A) c.1969T>A (p.Phe657Ile) | |
| X | g.154947738T>A | CA519356380 | F8 | c.2073A>T (p.Pro691=) c.*1779+6154A>T (n.*1779+6154A>T) c.1968A>T (p.Pro656=) | |
| X | g.154947738T>C | CA519356381 | F8 | c.2073A>G (p.Pro691=) c.*1779+6154A>G (n.*1779+6154A>G) c.1968A>G (p.Pro656=) | |
| X | g.154947738T>G | CA519356383 | F8 | c.2073A>C (p.Pro691=) c.*1779+6154A>C (n.*1779+6154A>C) c.1968A>C (p.Pro656=) | |
| X | g.154947739G>A | CA414909105 | F8 | c.2072C>T (p.Pro691Leu) c.*1779+6153C>T (n.*1779+6153C>T) c.1967C>T (p.Pro656Leu) | |
| X | g.154947739G>C | CA414909108 | F8 | c.2072C>G (p.Pro691Arg) c.*1779+6153C>G (n.*1779+6153C>G) c.1967C>G (p.Pro656Arg) | |
| X | g.154947739G>T | CA414909109 | F8 | c.2072C>A (p.Pro691Gln) c.*1779+6153C>A (n.*1779+6153C>A) c.1967C>A (p.Pro656Gln) | |
| X | g.154947740G>A | CA414909111 | F8 | c.2071C>T (p.Pro691Ser) c.*1779+6152C>T (n.*1779+6152C>T) c.1966C>T (p.Pro656Ser) | dbSNP COSMIC COSMIC |
| X | g.154947740G>C | CA414909114 | F8 | c.2071C>G (p.Pro691Ala) c.*1779+6152C>G (n.*1779+6152C>G) c.1966C>G (p.Pro656Ala) | |
| X | g.154947740G= | CA2466842524 | F8 | c.2071C= (p.Pro691=) c.*1779+6152C= (n.*1779+6152C=) c.1966C= (p.Pro656=) | |
| X | g.154947740G>T | CA414909116 | F8 | c.2071C>A (p.Pro691Thr) c.*1779+6152C>A (n.*1779+6152C>A) c.1966C>A (p.Pro656Thr) | |
| X | g.154947741G>A | CA519356390 | F8 | c.2070C>T (p.Phe690=) c.*1779+6151C>T (n.*1779+6151C>T) c.1965C>T (p.Phe655=) | |
| X | g.154947741G>C | CA414909119 | F8 | c.2070C>G (p.Phe690Leu) c.*1779+6151C>G (n.*1779+6151C>G) c.1965C>G (p.Phe655Leu) | |
| X | g.154947741G>T | CA414909121 | F8 | c.2070C>A (p.Phe690Leu) c.*1779+6151C>A (n.*1779+6151C>A) c.1965C>A (p.Phe655Leu) | |
| X | g.154947742A>C | CA414909125 | F8 | c.2069T>G (p.Phe690Cys) c.*1779+6150T>G (n.*1779+6150T>G) c.1964T>G (p.Phe655Cys) | |
| X | g.154947742A>G | CA414909127 | F8 | c.2069T>C (p.Phe690Ser) c.*1779+6150T>C (n.*1779+6150T>C) c.1964T>C (p.Phe655Ser) | |
| X | g.154947742A>T | CA414909129 | F8 | c.2069T>A (p.Phe690Tyr) c.*1779+6150T>A (n.*1779+6150T>A) c.1964T>A (p.Phe655Tyr) | |
| X | g.154947743A>C | CA414909132 | F8 | c.2068T>G (p.Phe690Val) c.*1779+6149T>G (n.*1779+6149T>G) c.1963T>G (p.Phe655Val) | |
| X | g.154947743A>G | CA414909138 | F8 | c.2068T>C (p.Phe690Leu) c.*1779+6149T>C (n.*1779+6149T>C) c.1963T>C (p.Phe655Leu) | |
| X | g.154947743A>T | CA414909135 | F8 | c.2068T>A (p.Phe690Ile) c.*1779+6149T>A (n.*1779+6149T>A) c.1963T>A (p.Phe655Ile) | |
| X | g.154947744T>A | CA519356403 | F8 | c.2067A>T (p.Leu689=) c.*1779+6148A>T (n.*1779+6148A>T) c.1962A>T (p.Leu654=) | |
| X | g.154947744T>C | CA519356399 | F8 | c.2067A>G (p.Leu689=) c.*1779+6148A>G (n.*1779+6148A>G) c.1962A>G (p.Leu654=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154947744T>G | CA519356401 | F8 | c.2067A>C (p.Leu689=) c.*1779+6148A>C (n.*1779+6148A>C) c.1962A>C (p.Leu654=) | |
| X | g.154947744T= | CA2466842525 | F8 | c.2067A= (p.Leu689=) c.*1779+6148A= (n.*1779+6148A=) c.1962A= (p.Leu654=) | |
| X | g.154947745A= | CA2466842526 | F8 | c.2066T= (p.Leu689=) c.*1779+6147T= (n.*1779+6147T=) c.1961T= (p.Leu654=) | |
| X | g.154947745A>C | CA414909140 | F8 | c.2066T>G (p.Leu689Arg) c.*1779+6147T>G (n.*1779+6147T>G) c.1961T>G (p.Leu654Arg) | |
| X | g.154947745A>G | CA414909145 | F8 | c.2066T>C (p.Leu689Pro) c.*1779+6147T>C (n.*1779+6147T>C) c.1961T>C (p.Leu654Pro) | dbSNP |
| X | g.154947745A>T | CA414909147 | F8 | c.2066T>A (p.Leu689Gln) c.*1779+6147T>A (n.*1779+6147T>A) c.1961T>A (p.Leu654Gln) | |
| X | g.154947746G>A | CA519356408 | F8 | c.2065C>T (p.Leu689=) c.*1779+6146C>T (n.*1779+6146C>T) c.1960C>T (p.Leu654=) | |
| X | g.154947746G>C | CA414909150 | F8 | c.2065C>G (p.Leu689Val) c.*1779+6146C>G (n.*1779+6146C>G) c.1960C>G (p.Leu654Val) | ClinVar |
| X | g.154947746G>T | CA414909151 | F8 | c.2065C>A (p.Leu689Ile) c.*1779+6146C>A (n.*1779+6146C>A) c.1960C>A (p.Leu654Ile) | |
| X | g.154947747G>A | CA10568367 | F8 | c.2064C>T (p.Thr688=) c.*1779+6145C>T (n.*1779+6145C>T) c.1959C>T (p.Thr653=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154947747G>C | CA519356412 | F8 | c.2064C>G (p.Thr688=) c.*1779+6145C>G (n.*1779+6145C>G) c.1959C>G (p.Thr653=) | |
| X | g.154947747G= | CA2466842527 | F8 | c.2064C= (p.Thr688=) c.*1779+6145C= (n.*1779+6145C=) c.1959C= (p.Thr653=) | |
| X | g.154947747G>T | CA519356414 | F8 | c.2064C>A (p.Thr688=) c.*1779+6145C>A (n.*1779+6145C>A) c.1959C>A (p.Thr653=) | |
| X | g.154947748G>A | CA414909156 | F8 | c.2063C>T (p.Thr688Ile) c.*1779+6144C>T (n.*1779+6144C>T) c.1958C>T (p.Thr653Ile) | |
| X | g.154947748G>C | CA414909159 | F8 | c.2063C>G (p.Thr688Ser) c.*1779+6144C>G (n.*1779+6144C>G) c.1958C>G (p.Thr653Ser) | |
| X | g.154947748G>T | CA414909162 | F8 | c.2063C>A (p.Thr688Asn) c.*1779+6144C>A (n.*1779+6144C>A) c.1958C>A (p.Thr653Asn) | |
| X | g.154947751_154947754del | CA2695237203 | F8 | c.2060_2063del (p.Leu687ProfsTer?) c.*1779+6141_*1779+6144del (n.*1779+6141_*1779+6144del) c.1955_1958del (p.Leu652ProfsTer?) | |
| X | g.154947749T>A | CA414909168 | F8 | c.2062A>T (p.Thr688Ser) c.*1779+6143A>T (n.*1779+6143A>T) c.1957A>T (p.Thr653Ser) | |
| X | g.154947749T>C | CA414909170 | F8 | c.2062A>G (p.Thr688Ala) c.*1779+6143A>G (n.*1779+6143A>G) c.1957A>G (p.Thr653Ala) | |
| X | g.154947749T>G | CA414909166 | F8 | c.2062A>C (p.Thr688Pro) c.*1779+6143A>C (n.*1779+6143A>C) c.1957A>C (p.Thr653Pro) | |
| X | g.154947749dup | CA2695237204 | F8 | c.2062dup (p.Thr688AsnfsTer?) c.*1779+6143dup (n.*1779+6143dup) c.1957dup (p.Thr653AsnfsTer?) | |
| X | g.154947750G>A | CA519356421 | F8 | c.2061C>T (p.Leu687=) c.*1779+6142C>T (n.*1779+6142C>T) c.1956C>T (p.Leu652=) | COSMIC COSMIC |
| X | g.154947750G>C | CA519356423 | F8 | c.2061C>G (p.Leu687=) c.*1779+6142C>G (n.*1779+6142C>G) c.1956C>G (p.Leu652=) | |
| X | g.154947750G>T | CA519356425 | F8 | c.2061C>A (p.Leu687=) c.*1779+6142C>A (n.*1779+6142C>A) c.1956C>A (p.Leu652=) | |
| X | g.154947751A>C | CA414909174 | F8 | c.2060T>G (p.Leu687Arg) c.*1779+6141T>G (n.*1779+6141T>G) c.1955T>G (p.Leu652Arg) | |
| X | g.154947751A>G | CA414909176 | F8 | c.2060T>C (p.Leu687Pro) c.*1779+6141T>C (n.*1779+6141T>C) c.1955T>C (p.Leu652Pro) | |
| X | g.154947751A>T | CA414909179 | F8 | c.2060T>A (p.Leu687His) c.*1779+6141T>A (n.*1779+6141T>A) c.1955T>A (p.Leu652His) | |
| X | g.154947751_154947753delinsAGT | CA2466842528 | F8 | c.2058_2060delinsACT (p.Thr686=) c.*1779+6139_*1779+6141delinsACT (n.*1779+6139_*1779+6141delinsACT) c.1953_1955delinsACT (p.Thr651=) | |
| X | g.154947752G>A | CA414909183 | F8 | c.2059C>T (p.Leu687Phe) c.*1779+6140C>T (n.*1779+6140C>T) c.1954C>T (p.Leu652Phe) | |
| X | g.154947752G>C | CA414909186 | F8 | c.2059C>G (p.Leu687Val) c.*1779+6140C>G (n.*1779+6140C>G) c.1954C>G (p.Leu652Val) | |
| X | g.154947752G>T | CA414909196 | F8 | c.2059C>A (p.Leu687Ile) c.*1779+6140C>A (n.*1779+6140C>A) c.1954C>A (p.Leu652Ile) | |
| X | g.154947756_154947757del | CA873350209 | F8 | c.2058_2059del (p.Leu687HisfsTer?) c.*1779+6139_*1779+6140del (n.*1779+6139_*1779+6140del) c.1953_1954del (p.Leu652HisfsTer?) | dbSNP |
| X | g.154947753T>A | CA519356432 | F8 | c.2058A>T (p.Thr686=) c.*1779+6139A>T (n.*1779+6139A>T) c.1953A>T (p.Thr651=) | |
| X | g.154947753T>C | CA10568368 | F8 | c.2058A>G (p.Thr686=) c.*1779+6139A>G (n.*1779+6139A>G) c.1953A>G (p.Thr651=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154947753T>G | CA519356435 | F8 | c.2058A>C (p.Thr686=) c.*1779+6139A>C (n.*1779+6139A>C) c.1953A>C (p.Thr651=) | |
| X | g.154947753T= | CA2466842529 | F8 | c.2058A= (p.Thr686=) c.*1779+6139A= (n.*1779+6139A=) c.1953A= (p.Thr651=) | |
| X | g.154947754G>A | CA414909200 | F8 | c.2057C>T (p.Thr686Ile) c.*1779+6138C>T (n.*1779+6138C>T) c.1952C>T (p.Thr651Ile) | |
| X | g.154947754G>C | CA414909202 | F8 | c.2057C>G (p.Thr686Arg) c.*1779+6138C>G (n.*1779+6138C>G) c.1952C>G (p.Thr651Arg) | |
| X | g.154947754G>T | CA414909203 | F8 | c.2057C>A (p.Thr686Lys) c.*1779+6138C>A (n.*1779+6138C>A) c.1952C>A (p.Thr651Lys) | |
| X | g.154947755T>A | CA414909204 | F8 | c.2056A>T (p.Thr686Ser) c.*1779+6137A>T (n.*1779+6137A>T) c.1951A>T (p.Thr651Ser) | |
| X | g.154947755T>C | CA414909205 | F8 | c.2056A>G (p.Thr686Ala) c.*1779+6137A>G (n.*1779+6137A>G) c.1951A>G (p.Thr651Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154947755T>G | CA414909206 | F8 | c.2056A>C (p.Thr686Pro) c.*1779+6137A>C (n.*1779+6137A>C) c.1951A>C (p.Thr651Pro) | |
| X | g.154947755T= | CA2466842530 | F8 | c.2056A= (p.Thr686=) c.*1779+6137A= (n.*1779+6137A=) c.1951A= (p.Thr651=) | |
| X | g.154947756G>A | CA519356442 | F8 | c.2055C>T (p.Asp685=) c.*1779+6136C>T (n.*1779+6136C>T) c.1950C>T (p.Asp650=) | |
| X | g.154947756G>C | CA414909208 | F8 | c.2055C>G (p.Asp685Glu) c.*1779+6136C>G (n.*1779+6136C>G) c.1950C>G (p.Asp650Glu) | |
| X | g.154947756G>T | CA414909210 | F8 | c.2055C>A (p.Asp685Glu) c.*1779+6136C>A (n.*1779+6136C>A) c.1950C>A (p.Asp650Glu) | |
| X | g.154947757T>A | CA414909212 | F8 | c.2054A>T (p.Asp685Val) c.*1779+6135A>T (n.*1779+6135A>T) c.1949A>T (p.Asp650Val) | dbSNP |
| X | g.154947757T>C | CA414909213 | F8 | c.2054A>G (p.Asp685Gly) c.*1779+6135A>G (n.*1779+6135A>G) c.1949A>G (p.Asp650Gly) | dbSNP |
| X | g.154947757T>G | CA414909214 | F8 | c.2054A>C (p.Asp685Ala) c.*1779+6135A>C (n.*1779+6135A>C) c.1949A>C (p.Asp650Ala) | |
| X | g.154947757T= | CA2466842531 | F8 | c.2054A= (p.Asp685=) c.*1779+6135A= (n.*1779+6135A=) c.1949A= (p.Asp650=) | |
| X | g.154947758C>A | CA414909217 | F8 | c.2053G>T (p.Asp685Tyr) c.*1779+6134G>T (n.*1779+6134G>T) c.1948G>T (p.Asp650Tyr) | |
| X | g.154947758C= | CA2466842532 | F8 | c.2053G= (p.Asp685=) c.*1779+6134G= (n.*1779+6134G=) c.1948G= (p.Asp650=) | |
| X | g.154947758C>G | CA414909218 | F8 | c.2053G>C (p.Asp685His) c.*1779+6134G>C (n.*1779+6134G>C) c.1948G>C (p.Asp650His) | |
| X | g.154947758C>T | CA414909220 | F8 | c.2053G>A (p.Asp685Asn) c.*1779+6134G>A (n.*1779+6134G>A) c.1948G>A (p.Asp650Asn) | dbSNP |