Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.107245402T>CCA816881295PDSS2c.702+146A>G (n.702+146A>G)
c.567+146A>G (n.567+146A>G)
c.294+146A>G (n.294+146A>G)
dbSNP gnomAD v3 gnomAD v4
6g.107245402T>GCA2679875344PDSS2c.702+146A>C (n.702+146A>C)
c.567+146A>C (n.567+146A>C)
c.294+146A>C (n.294+146A>C)
gnomAD v4
6g.107245402T=CA1653773287PDSS2c.702+146A= (n.702+146A=)
c.567+146A= (n.567+146A=)
c.294+146A= (n.294+146A=)
6g.107245402_107245403delinsTACA1653773289PDSS2c.702+145_702+146delinsTA (n.702+145_702+146delinsTA)
c.567+145_567+146delinsTA (n.567+145_567+146delinsTA)
c.294+145_294+146delinsTA (n.294+145_294+146delinsTA)
6g.107245403delCA1092899536PDSS2c.702+145del (n.702+145del)
c.567+145del (n.567+145del)
c.294+145del (n.294+145del)
dbSNP gnomAD v3 gnomAD v4
6g.107245403A>GCA2679875345PDSS2c.702+145T>C (n.702+145T>C)
c.567+145T>C (n.567+145T>C)
c.294+145T>C (n.294+145T>C)
gnomAD v4
6g.107245404G>ACA1092899537PDSS2c.702+144C>T (n.702+144C>T)
c.567+144C>T (n.567+144C>T)
c.294+144C>T (n.294+144C>T)
dbSNP gnomAD v3 gnomAD v4
6g.107245404G=CA1653773292PDSS2c.702+144C= (n.702+144C=)
c.567+144C= (n.567+144C=)
c.294+144C= (n.294+144C=)
6g.107245404G>TCA2679875346PDSS2c.702+144C>A (n.702+144C>A)
c.567+144C>A (n.567+144C>A)
c.294+144C>A (n.294+144C>A)
gnomAD v4
6g.107245405C>ACA2679875347PDSS2c.702+143G>T (n.702+143G>T)
c.567+143G>T (n.567+143G>T)
c.294+143G>T (n.294+143G>T)
gnomAD v4
6g.107245406C>ACA816881297PDSS2c.702+142G>T (n.702+142G>T)
c.567+142G>T (n.567+142G>T)
c.294+142G>T (n.294+142G>T)
dbSNP gnomAD v3 gnomAD v4
6g.107245406C=CA1653773295PDSS2c.702+142G= (n.702+142G=)
c.567+142G= (n.567+142G=)
c.294+142G= (n.294+142G=)
6g.107245406C>TCA2679875348PDSS2c.702+142G>A (n.702+142G>A)
c.567+142G>A (n.567+142G>A)
c.294+142G>A (n.294+142G>A)
gnomAD v4
6g.107245410dupCA2679875349PDSS2c.702+141dup (n.702+141dup)
c.567+141dup (n.567+141dup)
c.294+141dup (n.294+141dup)
gnomAD v4
6g.107245408A>GCA2679875350PDSS2c.702+140T>C (n.702+140T>C)
c.567+140T>C (n.567+140T>C)
c.294+140T>C (n.294+140T>C)
gnomAD v4
6g.107245411C>ACA1092899542PDSS2c.702+137G>T (n.702+137G>T)
c.567+137G>T (n.567+137G>T)
c.294+137G>T (n.294+137G>T)
dbSNP gnomAD v3 gnomAD v4
6g.107245411C>TCA2679875351PDSS2c.702+137G>A (n.702+137G>A)
c.567+137G>A (n.567+137G>A)
c.294+137G>A (n.294+137G>A)
gnomAD v4
6g.107245411_107245418delCA1092899539PDSS2c.702+130_702+137del (n.702+130_702+137del)
c.567+130_567+137del (n.567+130_567+137del)
c.294+130_294+137del (n.294+130_294+137del)
gnomAD v3 gnomAD v4
6g.107245412A=CA1653773297PDSS2c.702+136T= (n.702+136T=)
c.567+136T= (n.567+136T=)
c.294+136T= (n.294+136T=)
6g.107245412A>CCA145601456PDSS2c.702+136T>G (n.702+136T>G)
c.567+136T>G (n.567+136T>G)
c.294+136T>G (n.294+136T>G)
dbSNP
6g.107245413C>ACA1092899546PDSS2c.702+135G>T (n.702+135G>T)
c.567+135G>T (n.567+135G>T)
c.294+135G>T (n.294+135G>T)
dbSNP gnomAD v3 gnomAD v4
6g.107245413C=CA1653773299PDSS2c.702+135G= (n.702+135G=)
c.567+135G= (n.567+135G=)
c.294+135G= (n.294+135G=)
6g.107245413C>TCA2679875352PDSS2c.702+135G>A (n.702+135G>A)
c.567+135G>A (n.567+135G>A)
c.294+135G>A (n.294+135G>A)
gnomAD v4
6g.107245413_107245414delinsCTCA1653773300PDSS2c.702+134_702+135delinsAG (n.702+134_702+135delinsAG)
c.567+134_567+135delinsAG (n.567+134_567+135delinsAG)
c.294+134_294+135delinsAG (n.294+134_294+135delinsAG)
6g.107245414delCA1653773304PDSS2c.702+134del (n.702+134del)
c.567+134del (n.567+134del)
c.294+134del (n.294+134del)
dbSNP
6g.107245414T>ACA816881301PDSS2c.702+134A>T (n.702+134A>T)
c.567+134A>T (n.567+134A>T)
c.294+134A>T (n.294+134A>T)
dbSNP gnomAD v3 gnomAD v4
6g.107245414T>CCA816881305PDSS2c.702+134A>G (n.702+134A>G)
c.567+134A>G (n.567+134A>G)
c.294+134A>G (n.294+134A>G)
dbSNP gnomAD v3 gnomAD v4
6g.107245414T=CA1653773305PDSS2c.702+134A= (n.702+134A=)
c.567+134A= (n.567+134A=)
c.294+134A= (n.294+134A=)
6g.107245414_107245418delinsTAATCCA1653773308PDSS2c.702+130_702+134delinsGATTA (n.702+130_702+134delinsGATTA)
c.567+130_567+134delinsGATTA (n.567+130_567+134delinsGATTA)
c.294+130_294+134delinsGATTA (n.294+130_294+134delinsGATTA)
6g.107245414_107245419delinsTAATCACA1653773310PDSS2c.702+129_702+134delinsTGATTA (n.702+129_702+134delinsTGATTA)
c.567+129_567+134delinsTGATTA (n.567+129_567+134delinsTGATTA)
c.294+129_294+134delinsTGATTA (n.294+129_294+134delinsTGATTA)
6g.107245415A>CCA2772514119PDSS2c.702+133T>G (n.702+133T>G)
c.567+133T>G (n.567+133T>G)
c.294+133T>G (n.294+133T>G)
6g.107245415_107245418delinsAATCCA1653773316PDSS2c.702+130_702+133delinsGATT (n.702+130_702+133delinsGATT)
c.567+130_567+133delinsGATT (n.567+130_567+133delinsGATT)
c.294+130_294+133delinsGATT (n.294+130_294+133delinsGATT)
6g.107245417_107245420delCA1653773314PDSS2c.702+130_702+133del (n.702+130_702+133del)
c.567+130_567+133del (n.567+130_567+133del)
c.294+130_294+133del (n.294+130_294+133del)
dbSNP
6g.107245417_107245421delCA1653773315PDSS2c.702+129_702+133del (n.702+129_702+133del)
c.567+129_567+133del (n.567+129_567+133del)
c.294+129_294+133del (n.294+129_294+133del)
dbSNP
6g.107245416_107245417delinsATCA1653773318PDSS2c.702+131_702+132delinsAT (n.702+131_702+132delinsAT)
c.567+131_567+132delinsAT (n.567+131_567+132delinsAT)
c.294+131_294+132delinsAT (n.294+131_294+132delinsAT)
6g.107245416_107245418delinsATCCA1653773320PDSS2c.702+130_702+132delinsGAT (n.702+130_702+132delinsGAT)
c.567+130_567+132delinsGAT (n.567+130_567+132delinsGAT)
c.294+130_294+132delinsGAT (n.294+130_294+132delinsGAT)
6g.107245417_107245419delCA1653773317PDSS2c.702+130_702+132del (n.702+130_702+132del)
c.567+130_567+132del (n.567+130_567+132del)
c.294+130_294+132del (n.294+130_294+132del)
dbSNP
6g.107245417delCA1653773335PDSS2c.702+131del (n.702+131del)
c.567+131del (n.567+131del)
c.294+131del (n.294+131del)
dbSNP
6g.107245417T>ACA816881311PDSS2c.702+131A>T (n.702+131A>T)
c.567+131A>T (n.567+131A>T)
c.294+131A>T (n.294+131A>T)
dbSNP gnomAD v3 gnomAD v4
6g.107245417T>CCA816881316PDSS2c.702+131A>G (n.702+131A>G)
c.567+131A>G (n.567+131A>G)
c.294+131A>G (n.294+131A>G)
dbSNP gnomAD v3 gnomAD v4
6g.107245417T=CA1653773331PDSS2c.702+131A= (n.702+131A=)
c.567+131A= (n.567+131A=)
c.294+131A= (n.294+131A=)
6g.107245417_107245418delCA816881308PDSS2c.702+130_702+131del (n.702+130_702+131del)
c.567+130_567+131del (n.567+130_567+131del)
c.294+130_294+131del (n.294+130_294+131del)
dbSNP gnomAD v3 gnomAD v4
6g.107245417_107245418delinsTCCA1653773330PDSS2c.702+130_702+131delinsGA (n.702+130_702+131delinsGA)
c.567+130_567+131delinsGA (n.567+130_567+131delinsGA)
c.294+130_294+131delinsGA (n.294+130_294+131delinsGA)
6g.107245417_107245419delinsTCACA1653773329PDSS2c.702+129_702+131delinsTGA (n.702+129_702+131delinsTGA)
c.567+129_567+131delinsTGA (n.567+129_567+131delinsTGA)
c.294+129_294+131delinsTGA (n.294+129_294+131delinsTGA)
6g.107245417_107245421delinsTCAAACA1653773327PDSS2c.702+127_702+131delinsTTTGA (n.702+127_702+131delinsTTTGA)
c.567+127_567+131delinsTTTGA (n.567+127_567+131delinsTTTGA)
c.294+127_294+131delinsTTTGA (n.294+127_294+131delinsTTTGA)
6g.107245417_107245423delinsTCAAAAACA1653773326PDSS2c.702+125_702+131delinsTTTTTGA (n.702+125_702+131delinsTTTTTGA)
c.567+125_567+131delinsTTTTTGA (n.567+125_567+131delinsTTTTTGA)
c.294+125_294+131delinsTTTTTGA (n.294+125_294+131delinsTTTTTGA)
6g.107245417_107245418insACA2679875353PDSS2c.702+130_702+131insT (n.702+130_702+131insT)
c.567+130_567+131insT (n.567+130_567+131insT)
c.294+130_294+131insT (n.294+130_294+131insT)
gnomAD v4
6g.107245417_107245418insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899552PDSS2c.702+130_702+131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+130_702+131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+130_567+131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+130_567+131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+130_294+131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+130_294+131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245418delCA1092899554PDSS2c.702+130del (n.702+130del)
c.567+130del (n.567+130del)
c.294+130del (n.294+130del)
dbSNP gnomAD v3 gnomAD v4
6g.107245418C>ACA816881319PDSS2c.702+130G>T (n.702+130G>T)
c.567+130G>T (n.567+130G>T)
c.294+130G>T (n.294+130G>T)
dbSNP gnomAD v3 gnomAD v4
6g.107245418C=CA1653773345PDSS2c.702+130G= (n.702+130G=)
c.567+130G= (n.567+130G=)
c.294+130G= (n.294+130G=)
6g.107245418C>TCA1092899556PDSS2c.702+130G>A (n.702+130G>A)
c.567+130G>A (n.567+130G>A)
c.294+130G>A (n.294+130G>A)
dbSNP gnomAD v3 gnomAD v4
6g.107245418dupCA1653773343PDSS2c.702+130dup (n.702+130dup)
c.567+130dup (n.567+130dup)
c.294+130dup (n.294+130dup)
dbSNP
6g.107245418_107245419delCA1653773350PDSS2c.702+129_702+130del (n.702+129_702+130del)
c.567+129_567+130del (n.567+129_567+130del)
c.294+129_294+130del (n.294+129_294+130del)
dbSNP gnomAD v4
6g.107245418_107245420delCA2772514120PDSS2c.702+128_702+130del (n.702+128_702+130del)
c.567+128_567+130del (n.567+128_567+130del)
c.294+128_294+130del (n.294+128_294+130del)
6g.107245418_107245421delCA1653773352PDSS2c.702+127_702+130del (n.702+127_702+130del)
c.567+127_567+130del (n.567+127_567+130del)
c.294+127_294+130del (n.294+127_294+130del)
dbSNP
6g.107245418_107245423delCA1653773348PDSS2c.702+125_702+130del (n.702+125_702+130del)
c.567+125_567+130del (n.567+125_567+130del)
c.294+125_294+130del (n.294+125_294+130del)
dbSNP
6g.107245418_107245437delinsCAAAAAAAAAAAAAAAAAAACA1653773346PDSS2c.702+111_702+130delinsTTTTTTTTTTTTTTTTTTTG (n.702+111_702+130delinsTTTTTTTTTTTTTTTTTTTG)
c.567+111_567+130delinsTTTTTTTTTTTTTTTTTTTG (n.567+111_567+130delinsTTTTTTTTTTTTTTTTTTTG)
c.294+111_294+130delinsTTTTTTTTTTTTTTTTTTTG (n.294+111_294+130delinsTTTTTTTTTTTTTTTTTTTG)
6g.107245445_107245446insAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899553PDSS2c.702+130_702+131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.702+130_702+131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG)
c.567+130_567+131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.567+130_567+131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG)
c.294+130_294+131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.294+130_294+131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG)
gnomAD v3 gnomAD v4
6g.107245419A=CA1653773551PDSS2c.702+129T= (n.702+129T=)
c.567+129T= (n.567+129T=)
c.294+129T= (n.294+129T=)
6g.107245419A>CCA1653773554PDSS2c.702+129T>G (n.702+129T>G)
c.567+129T>G (n.567+129T>G)
c.294+129T>G (n.294+129T>G)
dbSNP gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899903PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
dbSNP gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899900PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899897PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
dbSNP gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899895PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899893PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899891PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899766PDSS2c.702+129_702+130insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899890PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899714PDSS2c.702+129_702+130insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899787PDSS2c.702+129_702+130insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899889PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899716PDSS2c.702+129_702+130insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
dbSNP gnomAD v3 gnomAD v4
6g.107245445_107245446insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899702PDSS2c.702+129_702+130insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899773PDSS2c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
dbSNP gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899863PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
6g.107245445_107245446insAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899713PDSS2c.702+129_702+130insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899769PDSS2c.702+129_702+130insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
dbSNP gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899887PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899884PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899706PDSS2c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899768PDSS2c.702+129_702+130insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
dbSNP gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA2772514122PDSS2c.702+129_702+130insTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
6g.107245445_107245446insAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899728PDSS2c.702+129_702+130insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899882PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899725PDSS2c.702+129_702+130insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899879PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899737PDSS2c.702+129_702+130insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899876PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899874PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899871PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899868PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899866PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA2772514121PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
6g.107245445_107245446insAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899709PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899865PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
6g.107245445_107245446insAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899699PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899704PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899861PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899724PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA2772514123PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
6g.107245445_107245446insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899736PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899741PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899712PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899740PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899739PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899720PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899748PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899721PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899744PDSS2c.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+129_702+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+129_567+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+129_294+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245445dupCA145601458PDSS2c.702+129dup (n.702+129dup)
c.567+129dup (n.567+129dup)
c.294+129dup (n.294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245444_107245445dupCA816881400PDSS2c.702+128_702+129dup (n.702+128_702+129dup)
c.567+128_567+129dup (n.567+128_567+129dup)
c.294+128_294+129dup (n.294+128_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245443_107245445dupCA816881405PDSS2c.702+127_702+129dup (n.702+127_702+129dup)
c.567+127_567+129dup (n.567+127_567+129dup)
c.294+127_294+129dup (n.294+127_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245442_107245445dupCA1092899841PDSS2c.702+126_702+129dup (n.702+126_702+129dup)
c.567+126_567+129dup (n.567+126_567+129dup)
c.294+126_294+129dup (n.294+126_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245441_107245445dupCA1092899839PDSS2c.702+125_702+129dup (n.702+125_702+129dup)
c.567+125_567+129dup (n.567+125_567+129dup)
c.294+125_294+129dup (n.294+125_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245440_107245445dupCA1092899838PDSS2c.702+124_702+129dup (n.702+124_702+129dup)
c.567+124_567+129dup (n.567+124_567+129dup)
c.294+124_294+129dup (n.294+124_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245439_107245445dupCA1092899762PDSS2c.702+123_702+129dup (n.702+123_702+129dup)
c.567+123_567+129dup (n.567+123_567+129dup)
c.294+123_294+129dup (n.294+123_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245438_107245445dupCA816881407PDSS2c.702+122_702+129dup (n.702+122_702+129dup)
c.567+122_567+129dup (n.567+122_567+129dup)
c.294+122_294+129dup (n.294+122_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245437_107245445dupCA1092899836PDSS2c.702+121_702+129dup (n.702+121_702+129dup)
c.567+121_567+129dup (n.567+121_567+129dup)
c.294+121_294+129dup (n.294+121_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245436_107245445dupCA1092899833PDSS2c.702+120_702+129dup (n.702+120_702+129dup)
c.567+120_567+129dup (n.567+120_567+129dup)
c.294+120_294+129dup (n.294+120_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245435_107245445dupCA1092899788PDSS2c.702+119_702+129dup (n.702+119_702+129dup)
c.567+119_567+129dup (n.567+119_567+129dup)
c.294+119_294+129dup (n.294+119_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245434_107245445dupCA1092899829PDSS2c.702+118_702+129dup (n.702+118_702+129dup)
c.567+118_567+129dup (n.567+118_567+129dup)
c.294+118_294+129dup (n.294+118_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245433_107245445dupCA1092899822PDSS2c.702+117_702+129dup (n.702+117_702+129dup)
c.567+117_567+129dup (n.567+117_567+129dup)
c.294+117_294+129dup (n.294+117_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245432_107245445dupCA1092899814PDSS2c.702+116_702+129dup (n.702+116_702+129dup)
c.567+116_567+129dup (n.567+116_567+129dup)
c.294+116_294+129dup (n.294+116_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245431_107245445dupCA1092899812PDSS2c.702+115_702+129dup (n.702+115_702+129dup)
c.567+115_567+129dup (n.567+115_567+129dup)
c.294+115_294+129dup (n.294+115_294+129dup)
gnomAD v3 gnomAD v4
6g.107245430_107245445dupCA1092899807PDSS2c.702+114_702+129dup (n.702+114_702+129dup)
c.567+114_567+129dup (n.567+114_567+129dup)
c.294+114_294+129dup (n.294+114_294+129dup)
gnomAD v3 gnomAD v4
6g.107245429_107245445dupCA1092899804PDSS2c.702+113_702+129dup (n.702+113_702+129dup)
c.567+113_567+129dup (n.567+113_567+129dup)
c.294+113_294+129dup (n.294+113_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245428_107245445dupCA1092899797PDSS2c.702+112_702+129dup (n.702+112_702+129dup)
c.567+112_567+129dup (n.567+112_567+129dup)
c.294+112_294+129dup (n.294+112_294+129dup)
dbSNP gnomAD v3 gnomAD v4
6g.107245427_107245445dupCA1092899795PDSS2c.702+111_702+129dup (n.702+111_702+129dup)
c.567+111_567+129dup (n.567+111_567+129dup)
c.294+111_294+129dup (n.294+111_294+129dup)
gnomAD v3 gnomAD v4
6g.107245426_107245445dupCA1092899794PDSS2c.702+110_702+129dup (n.702+110_702+129dup)
c.567+110_567+129dup (n.567+110_567+129dup)
c.294+110_294+129dup (n.294+110_294+129dup)
gnomAD v3 gnomAD v4
6g.107245425_107245445dupCA1092899793PDSS2c.702+109_702+129dup (n.702+109_702+129dup)
c.567+109_567+129dup (n.567+109_567+129dup)
c.294+109_294+129dup (n.294+109_294+129dup)
gnomAD v3 gnomAD v4
6g.107245422_107245445dupCA1092899790PDSS2c.702+106_702+129dup (n.702+106_702+129dup)
c.567+106_567+129dup (n.567+106_567+129dup)
c.294+106_294+129dup (n.294+106_294+129dup)
gnomAD v3 gnomAD v4
6g.107245421_107245445dupCA1092899830PDSS2c.702+105_702+129dup (n.702+105_702+129dup)
c.567+105_567+129dup (n.567+105_567+129dup)
c.294+105_294+129dup (n.294+105_294+129dup)
6g.107245420_107245445dupCA1092899906PDSS2c.702+104_702+129dup (n.702+104_702+129dup)
c.567+104_567+129dup (n.567+104_567+129dup)
c.294+104_294+129dup (n.294+104_294+129dup)
gnomAD v3 gnomAD v4
6g.107245419_107245445dupCA1092899904PDSS2c.702+103_702+129dup (n.702+103_702+129dup)
c.567+103_567+129dup (n.567+103_567+129dup)
c.294+103_294+129dup (n.294+103_294+129dup)
gnomAD v3 gnomAD v4
6g.107245445delCA145601457PDSS2c.702+129del (n.702+129del)
c.567+129del (n.567+129del)
c.294+129del (n.294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245444_107245445delCA816881410PDSS2c.702+128_702+129del (n.702+128_702+129del)
c.567+128_567+129del (n.567+128_567+129del)
c.294+128_294+129del (n.294+128_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245443_107245445delCA816881411PDSS2c.702+127_702+129del (n.702+127_702+129del)
c.567+127_567+129del (n.567+127_567+129del)
c.294+127_294+129del (n.294+127_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245442_107245445delCA816881338PDSS2c.702+126_702+129del (n.702+126_702+129del)
c.567+126_567+129del (n.567+126_567+129del)
c.294+126_294+129del (n.294+126_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245441_107245445delCA816881384PDSS2c.702+125_702+129del (n.702+125_702+129del)
c.567+125_567+129del (n.567+125_567+129del)
c.294+125_294+129del (n.294+125_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245440_107245445delCA816881398PDSS2c.702+124_702+129del (n.702+124_702+129del)
c.567+124_567+129del (n.567+124_567+129del)
c.294+124_294+129del (n.294+124_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245439_107245445delCA816881383PDSS2c.702+123_702+129del (n.702+123_702+129del)
c.567+123_567+129del (n.567+123_567+129del)
c.294+123_294+129del (n.294+123_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245438_107245445delCA816881382PDSS2c.702+122_702+129del (n.702+122_702+129del)
c.567+122_567+129del (n.567+122_567+129del)
c.294+122_294+129del (n.294+122_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245437_107245445delCA816881374PDSS2c.702+121_702+129del (n.702+121_702+129del)
c.567+121_567+129del (n.567+121_567+129del)
c.294+121_294+129del (n.294+121_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245436_107245445delCA816881367PDSS2c.702+120_702+129del (n.702+120_702+129del)
c.567+120_567+129del (n.567+120_567+129del)
c.294+120_294+129del (n.294+120_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245435_107245445delCA816881365PDSS2c.702+119_702+129del (n.702+119_702+129del)
c.567+119_567+129del (n.567+119_567+129del)
c.294+119_294+129del (n.294+119_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245434_107245445delCA816881364PDSS2c.702+118_702+129del (n.702+118_702+129del)
c.567+118_567+129del (n.567+118_567+129del)
c.294+118_294+129del (n.294+118_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245433_107245445delCA816881352PDSS2c.702+117_702+129del (n.702+117_702+129del)
c.567+117_567+129del (n.567+117_567+129del)
c.294+117_294+129del (n.294+117_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245432_107245445delCA1092899760PDSS2c.702+116_702+129del (n.702+116_702+129del)
c.567+116_567+129del (n.567+116_567+129del)
c.294+116_294+129del (n.294+116_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245431_107245445delCA816881347PDSS2c.702+115_702+129del (n.702+115_702+129del)
c.567+115_567+129del (n.567+115_567+129del)
c.294+115_294+129del (n.294+115_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245430_107245445delCA1653773565PDSS2c.702+114_702+129del (n.702+114_702+129del)
c.567+114_567+129del (n.567+114_567+129del)
c.294+114_294+129del (n.294+114_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245429_107245445delCA1653773563PDSS2c.702+113_702+129del (n.702+113_702+129del)
c.567+113_567+129del (n.567+113_567+129del)
c.294+113_294+129del (n.294+113_294+129del)
dbSNP gnomAD v4
6g.107245427_107245445delCA1092899751PDSS2c.702+111_702+129del (n.702+111_702+129del)
c.567+111_567+129del (n.567+111_567+129del)
c.294+111_294+129del (n.294+111_294+129del)
dbSNP gnomAD v3 gnomAD v4
6g.107245420A=CA1653773592PDSS2c.702+128T= (n.702+128T=)
c.567+128T= (n.567+128T=)
c.294+128T= (n.294+128T=)
6g.107245420A>CCA1653773591PDSS2c.702+128T>G (n.702+128T>G)
c.567+128T>G (n.567+128T>G)
c.294+128T>G (n.294+128T>G)
dbSNP
6g.107245445_107245446insCAAAAAAAAAAAAAAAAAAAAAAAAAACA569507467PDSS2c.702+128_702+129insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+128_702+129insGTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+128_567+129insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+128_567+129insGTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+128_294+129insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+128_294+129insGTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v2
6g.107245445_107245446insAATAAAAAAAAAAAAAAAAAAAAAAAAAACA1092899923PDSS2c.702+128_702+129insATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.702+128_702+129insATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.567+128_567+129insATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.567+128_567+129insATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.294+128_294+129insATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.294+128_294+129insATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245420_107245421insGCA569507468PDSS2c.702+127_702+128insC (n.702+127_702+128insC)
c.567+127_567+128insC (n.567+127_567+128insC)
c.294+127_294+128insC (n.294+127_294+128insC)
gnomAD v2
6g.107245421A>CCA2679875354PDSS2c.702+127T>G (n.702+127T>G)
c.567+127T>G (n.567+127T>G)
c.294+127T>G (n.294+127T>G)
gnomAD v4
6g.107245422A>CCA2712610300PDSS2c.702+126T>G (n.702+126T>G)
c.567+126T>G (n.567+126T>G)
c.294+126T>G (n.294+126T>G)
dbSNP
6g.107245427A>TCA2532683276PDSS2c.702+121T>A (n.702+121T>A)
c.567+121T>A (n.567+121T>A)
c.294+121T>A (n.294+121T>A)
6g.107245429A>GCA2544151187PDSS2c.702+119T>C (n.702+119T>C)
c.567+119T>C (n.567+119T>C)
c.294+119T>C (n.294+119T>C)
6g.107245429A>TCA2679875355PDSS2c.702+119T>A (n.702+119T>A)
c.567+119T>A (n.567+119T>A)
c.294+119T>A (n.294+119T>A)
gnomAD v4
6g.107245431A>GCA2679875356PDSS2c.702+117T>C (n.702+117T>C)
c.567+117T>C (n.567+117T>C)
c.294+117T>C (n.294+117T>C)
gnomAD v4
6g.107245434_107245472delCA2772514124PDSS2c.702+78_702+116del (n.702+78_702+116del)
c.567+78_567+116del (n.567+78_567+116del)
c.294+78_294+116del (n.294+78_294+116del)
6g.107245434A>TCA2679875357PDSS2c.702+114T>A (n.702+114T>A)
c.567+114T>A (n.567+114T>A)
c.294+114T>A (n.294+114T>A)
gnomAD v4
6g.107245435A>TCA2544150658PDSS2c.702+113T>A (n.702+113T>A)
c.567+113T>A (n.567+113T>A)
c.294+113T>A (n.294+113T>A)
6g.107245436A>TCA2679875358PDSS2c.702+112T>A (n.702+112T>A)
c.567+112T>A (n.567+112T>A)
c.294+112T>A (n.294+112T>A)
gnomAD v4
6g.107245437A>GCA2679875359PDSS2c.702+111T>C (n.702+111T>C)
c.567+111T>C (n.567+111T>C)
c.294+111T>C (n.294+111T>C)
gnomAD v4
6g.107245439A>TCA2679875360PDSS2c.702+109T>A (n.702+109T>A)
c.567+109T>A (n.567+109T>A)
c.294+109T>A (n.294+109T>A)
gnomAD v4
6g.107245440_107245446delCA2568743589PDSS2c.702+102_702+108del (n.702+102_702+108del)
c.567+102_567+108del (n.567+102_567+108del)
c.294+102_294+108del (n.294+102_294+108del)
6g.107245441_107245446delCA2679875361PDSS2c.702+102_702+107del (n.702+102_702+107del)
c.567+102_567+107del (n.567+102_567+107del)
c.294+102_294+107del (n.294+102_294+107del)
gnomAD v4
6g.107245442A>GCA2679875362PDSS2c.702+106T>C (n.702+106T>C)
c.567+106T>C (n.567+106T>C)
c.294+106T>C (n.294+106T>C)
gnomAD v4
6g.107245442A>TCA2679875363PDSS2c.702+106T>A (n.702+106T>A)
c.567+106T>A (n.567+106T>A)
c.294+106T>A (n.294+106T>A)
gnomAD v4
6g.107245442_107245446delCA1092899926PDSS2c.702+102_702+106del (n.702+102_702+106del)
c.567+102_567+106del (n.567+102_567+106del)
c.294+102_294+106del (n.294+102_294+106del)
gnomAD v3 gnomAD v4
6g.107245442_107245443insGCCA2679875364PDSS2c.702+105_702+106insGC (n.702+105_702+106insGC)
c.567+105_567+106insGC (n.567+105_567+106insGC)
c.294+105_294+106insGC (n.294+105_294+106insGC)
gnomAD v4
6g.107245443A>GCA2539393451PDSS2c.702+105T>C (n.702+105T>C)
c.567+105T>C (n.567+105T>C)
c.294+105T>C (n.294+105T>C)
gnomAD v4
6g.107245443_107245446delCA569507469PDSS2c.702+102_702+105del (n.702+102_702+105del)
c.567+102_567+105del (n.567+102_567+105del)
c.294+102_294+105del (n.294+102_294+105del)
gnomAD v2 gnomAD v3 gnomAD v4
6g.107245443_107245446delinsAAAGCA1653773594PDSS2c.702+102_702+105delinsCTTT (n.702+102_702+105delinsCTTT)
c.567+102_567+105delinsCTTT (n.567+102_567+105delinsCTTT)
c.294+102_294+105delinsCTTT (n.294+102_294+105delinsCTTT)
6g.107245443_107245444insCCCA2679875369PDSS2c.702+104_702+105insGG (n.702+104_702+105insGG)
c.567+104_567+105insGG (n.567+104_567+105insGG)
c.294+104_294+105insGG (n.294+104_294+105insGG)
gnomAD v4
6g.107245443_107245444insGCCA2679875370PDSS2c.702+104_702+105insGC (n.702+104_702+105insGC)
c.567+104_567+105insGC (n.567+104_567+105insGC)
c.294+104_294+105insGC (n.294+104_294+105insGC)
gnomAD v4
6g.107245444A=CA1653773597PDSS2c.702+104T= (n.702+104T=)
c.567+104T= (n.567+104T=)
c.294+104T= (n.294+104T=)
6g.107245444A>CCA2679875367PDSS2c.702+104T>G (n.702+104T>G)
c.567+104T>G (n.567+104T>G)
c.294+104T>G (n.294+104T>G)
gnomAD v4
6g.107245444A>GCA2679875366PDSS2c.702+104T>C (n.702+104T>C)
c.567+104T>C (n.567+104T>C)
c.294+104T>C (n.294+104T>C)
gnomAD v4
6g.107245444A>TCA2679875365PDSS2c.702+104T>A (n.702+104T>A)
c.567+104T>A (n.567+104T>A)
c.294+104T>A (n.294+104T>A)
gnomAD v4
6g.107245444_107245446delCA1092899935PDSS2c.702+102_702+104del (n.702+102_702+104del)
c.567+102_567+104del (n.567+102_567+104del)
c.294+102_294+104del (n.294+102_294+104del)
dbSNP gnomAD v3 gnomAD v4
6g.107245444_107245446delinsAAGCA1653773596PDSS2c.702+102_702+104delinsCTT (n.702+102_702+104delinsCTT)
c.567+102_567+104delinsCTT (n.567+102_567+104delinsCTT)
c.294+102_294+104delinsCTT (n.294+102_294+104delinsCTT)
6g.107245445_107245453delCA2679875368PDSS2c.702+96_702+104del (n.702+96_702+104del)
c.567+96_567+104del (n.567+96_567+104del)
c.294+96_294+104del (n.294+96_294+104del)
gnomAD v4
6g.107245445_107245464delCA2772514125PDSS2c.702+85_702+104del (n.702+85_702+104del)
c.567+85_567+104del (n.567+85_567+104del)
c.294+85_294+104del (n.294+85_294+104del)
6g.107245445A=CA1653773609PDSS2c.702+103T= (n.702+103T=)
c.567+103T= (n.567+103T=)
c.294+103T= (n.294+103T=)
6g.107245445A>GCA1653773607PDSS2c.702+103T>C (n.702+103T>C)
c.567+103T>C (n.567+103T>C)
c.294+103T>C (n.294+103T>C)
dbSNP gnomAD v4
6g.107245445A>TCA2532897732PDSS2c.702+103T>A (n.702+103T>A)
c.567+103T>A (n.567+103T>A)
c.294+103T>A (n.294+103T>A)
gnomAD v4
6g.107245445_107245446insAAAAAAAAAAAATACA569507471PDSS2c.702+103_702+104insATTTTTTTTTTTTT (n.702+103_702+104insATTTTTTTTTTTTT)
c.567+103_567+104insATTTTTTTTTTTTT (n.567+103_567+104insATTTTTTTTTTTTT)
c.294+103_294+104insATTTTTTTTTTTTT (n.294+103_294+104insATTTTTTTTTTTTT)
dbSNP gnomAD v2
6g.107245445_107245446delCA451564029PDSS2c.702+102_702+103del (n.702+102_702+103del)
c.567+102_567+103del (n.567+102_567+103del)
c.294+102_294+103del (n.294+102_294+103del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245445_107245446delinsAGCA1653773610PDSS2c.702+102_702+103delinsCT (n.702+102_702+103delinsCT)
c.567+102_567+103delinsCT (n.567+102_567+103delinsCT)
c.294+102_294+103delinsCT (n.294+102_294+103delinsCT)
6g.107245445_107245447delCA2679875374PDSS2c.702+101_702+103del (n.702+101_702+103del)
c.567+101_567+103del (n.567+101_567+103del)
c.294+101_294+103del (n.294+101_294+103del)
gnomAD v4
6g.107245445_107245448delinsAGCCCA1653773606PDSS2c.702+100_702+103delinsGGCT (n.702+100_702+103delinsGGCT)
c.567+100_567+103delinsGGCT (n.567+100_567+103delinsGGCT)
c.294+100_294+103delinsGGCT (n.294+100_294+103delinsGGCT)
6g.107245446_107245449delCA2679875373PDSS2c.702+100_702+103del (n.702+100_702+103del)
c.567+100_567+103del (n.567+100_567+103del)
c.294+100_294+103del (n.294+100_294+103del)
gnomAD v4
6g.107245445_107245451delCA2679875372PDSS2c.702+97_702+103del (n.702+97_702+103del)
c.567+97_567+103del (n.567+97_567+103del)
c.294+97_294+103del (n.294+97_294+103del)
gnomAD v4
6g.107245445_107245452delinsAGCCATGTCA1653773605PDSS2c.702+96_702+103delinsACATGGCT (n.702+96_702+103delinsACATGGCT)
c.567+96_567+103delinsACATGGCT (n.567+96_567+103delinsACATGGCT)
c.294+96_294+103delinsACATGGCT (n.294+96_294+103delinsACATGGCT)
6g.107245446_107245453delCA2679875375PDSS2c.702+96_702+103del (n.702+96_702+103del)
c.567+96_567+103del (n.567+96_567+103del)
c.294+96_294+103del (n.294+96_294+103del)
gnomAD v4
6g.107245445_107245454delinsAGCCATGTACCA1653773604PDSS2c.702+94_702+103delinsGTACATGGCT (n.702+94_702+103delinsGTACATGGCT)
c.567+94_567+103delinsGTACATGGCT (n.567+94_567+103delinsGTACATGGCT)
c.294+94_294+103delinsGTACATGGCT (n.294+94_294+103delinsGTACATGGCT)
6g.107245445_107245459delinsAGCCATGTACAATTTCA1653773602PDSS2c.702+89_702+103delinsAAATTGTACATGGCT (n.702+89_702+103delinsAAATTGTACATGGCT)
c.567+89_567+103delinsAAATTGTACATGGCT (n.567+89_567+103delinsAAATTGTACATGGCT)
c.294+89_294+103delinsAAATTGTACATGGCT (n.294+89_294+103delinsAAATTGTACATGGCT)
6g.107245446_107245464delCA1092899937PDSS2c.702+85_702+103del (n.702+85_702+103del)
c.567+85_567+103del (n.567+85_567+103del)
c.294+85_294+103del (n.294+85_294+103del)
gnomAD v3 gnomAD v4
6g.107245445_107245465delinsAGCCATGTACAATTTAAACACCA1653773601PDSS2c.702+83_702+103delinsGTGTTTAAATTGTACATGGCT (n.702+83_702+103delinsGTGTTTAAATTGTACATGGCT)
c.567+83_567+103delinsGTGTTTAAATTGTACATGGCT (n.567+83_567+103delinsGTGTTTAAATTGTACATGGCT)
c.294+83_294+103delinsGTGTTTAAATTGTACATGGCT (n.294+83_294+103delinsGTGTTTAAATTGTACATGGCT)
6g.107245446_107245466delCA2679875371PDSS2c.702+83_702+103del (n.702+83_702+103del)
c.567+83_567+103del (n.567+83_567+103del)
c.294+83_294+103del (n.294+83_294+103del)
gnomAD v4
6g.107245445_107245446insAGCA816881436PDSS2c.702+102_702+103insCT (n.702+102_702+103insCT)
c.567+102_567+103insCT (n.567+102_567+103insCT)
c.294+102_294+103insCT (n.294+102_294+103insCT)
6g.107245445_107245446insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCA1653773619PDSS2c.702+102_702+103insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTT (n.702+102_702+103insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTT)
c.567+102_567+103insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTT (n.567+102_567+103insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTT)
c.294+102_294+103insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTT (n.294+102_294+103insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTT)
dbSNP
6g.107245446delCA451564031PDSS2c.702+102del (n.702+102del)
c.567+102del (n.567+102del)
c.294+102del (n.294+102del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245446G>ACA569507476PDSS2c.702+102C>T (n.702+102C>T)
c.567+102C>T (n.567+102C>T)
c.294+102C>T (n.294+102C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245446G>CCA1092899947PDSS2c.702+102C>G (n.702+102C>G)
c.567+102C>G (n.567+102C>G)
c.294+102C>G (n.294+102C>G)
gnomAD v3 gnomAD v4
6g.107245446G=CA1653773617PDSS2c.702+102C= (n.702+102C=)
c.567+102C= (n.567+102C=)
c.294+102C= (n.294+102C=)
6g.107245446G>TCA1092899946PDSS2c.702+102C>A (n.702+102C>A)
c.567+102C>A (n.567+102C>A)
c.294+102C>A (n.294+102C>A)
gnomAD v3 gnomAD v4
6g.107245446_107245447delCA1092899953PDSS2c.702+101_702+102del (n.702+101_702+102del)
c.567+101_567+102del (n.567+101_567+102del)
c.294+101_294+102del (n.294+101_294+102del)
gnomAD v3 gnomAD v4
6g.107245446_107245448delCA1092899951PDSS2c.702+100_702+102del (n.702+100_702+102del)
c.567+100_567+102del (n.567+100_567+102del)
c.294+100_294+102del (n.294+100_294+102del)
dbSNP gnomAD v3 gnomAD v4
6g.107245446_107245452delCA569507475PDSS2c.702+96_702+102del (n.702+96_702+102del)
c.567+96_567+102del (n.567+96_567+102del)
c.294+96_294+102del (n.294+96_294+102del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245446_107245454delCA569507474PDSS2c.702+94_702+102del (n.702+94_702+102del)
c.567+94_567+102del (n.567+94_567+102del)
c.294+94_294+102del (n.294+94_294+102del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245446_107245459delCA569507473PDSS2c.702+89_702+102del (n.702+89_702+102del)
c.567+89_567+102del (n.567+89_567+102del)
c.294+89_294+102del (n.294+89_294+102del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245446_107245463delCA1092899948PDSS2c.702+85_702+102del (n.702+85_702+102del)
c.567+85_567+102del (n.567+85_567+102del)
c.294+85_294+102del (n.294+85_294+102del)
gnomAD v3 gnomAD v4
6g.107245446_107245465delCA569507472PDSS2c.702+83_702+102del (n.702+83_702+102del)
c.567+83_567+102del (n.567+83_567+102del)
c.294+83_294+102del (n.294+83_294+102del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245447C>ACA1092899968PDSS2c.702+101G>T (n.702+101G>T)
c.567+101G>T (n.567+101G>T)
c.294+101G>T (n.294+101G>T)
gnomAD v3 gnomAD v4
6g.107245447C>GCA2679875376PDSS2c.702+101G>C (n.702+101G>C)
c.567+101G>C (n.567+101G>C)
c.294+101G>C (n.294+101G>C)
gnomAD v4
6g.107245447C>TCA2566970449PDSS2c.702+101G>A (n.702+101G>A)
c.567+101G>A (n.567+101G>A)
c.294+101G>A (n.294+101G>A)
gnomAD v4
6g.107245448_107245454delCA2679875377PDSS2c.702+95_702+101del (n.702+95_702+101del)
c.567+95_567+101del (n.567+95_567+101del)
c.294+95_294+101del (n.294+95_294+101del)
gnomAD v4
6g.107245447_107245448insAAAACA1092899973PDSS2c.702+100_702+101insTTTT (n.702+100_702+101insTTTT)
c.567+100_567+101insTTTT (n.567+100_567+101insTTTT)
c.294+100_294+101insTTTT (n.294+100_294+101insTTTT)
gnomAD v3 gnomAD v4
6g.107245448C>ACA1092899974PDSS2c.702+100G>T (n.702+100G>T)
c.567+100G>T (n.567+100G>T)
c.294+100G>T (n.294+100G>T)
dbSNP gnomAD v3 gnomAD v4
6g.107245448C=CA1653773624PDSS2c.702+100G= (n.702+100G=)
c.567+100G= (n.567+100G=)
c.294+100G= (n.294+100G=)
6g.107245448C>GCA816881449PDSS2c.702+100G>C (n.702+100G>C)
c.567+100G>C (n.567+100G>C)
c.294+100G>C (n.294+100G>C)
dbSNP gnomAD v3 gnomAD v4
6g.107245448C>TCA1092899978PDSS2c.702+100G>A (n.702+100G>A)
c.567+100G>A (n.567+100G>A)
c.294+100G>A (n.294+100G>A)
dbSNP gnomAD v3 gnomAD v4
6g.107245450_107245455delCA2679875378PDSS2c.702+95_702+100del (n.702+95_702+100del)
c.567+95_567+100del (n.567+95_567+100del)
c.294+95_294+100del (n.294+95_294+100del)
gnomAD v4
6g.107245448_107245449insCACA2679875381PDSS2c.702+99_702+100insTG (n.702+99_702+100insTG)
c.567+99_567+100insTG (n.567+99_567+100insTG)
c.294+99_294+100insTG (n.294+99_294+100insTG)
gnomAD v4
6g.107245449A>CCA2602580556PDSS2c.702+99T>G (n.702+99T>G)
c.567+99T>G (n.567+99T>G)
c.294+99T>G (n.294+99T>G)
gnomAD v3 gnomAD v4
6g.107245449A>TCA2679875384PDSS2c.702+99T>A (n.702+99T>A)
c.567+99T>A (n.567+99T>A)
c.294+99T>A (n.294+99T>A)
gnomAD v4
6g.107245449_107245450insAACA2679875380PDSS2c.702+99_702+100insTT (n.702+99_702+100insTT)
c.567+99_567+100insTT (n.567+99_567+100insTT)
c.294+99_294+100insTT (n.294+99_294+100insTT)
gnomAD v4
6g.107245449dupCA2679875379PDSS2c.702+99dup (n.702+99dup)
c.567+99dup (n.567+99dup)
c.294+99dup (n.294+99dup)
gnomAD v4
6g.107245449_107245452delinsATGTCA1653773625PDSS2c.702+96_702+99delinsACAT (n.702+96_702+99delinsACAT)
c.567+96_567+99delinsACAT (n.567+96_567+99delinsACAT)
c.294+96_294+99delinsACAT (n.294+96_294+99delinsACAT)
6g.107245449_107245453delCA2679875382PDSS2c.702+95_702+99del (n.702+95_702+99del)
c.567+95_567+99del (n.567+95_567+99del)
c.294+95_294+99del (n.294+95_294+99del)
gnomAD v4
6g.107245451_107245457delCA2679875383PDSS2c.702+93_702+99del (n.702+93_702+99del)
c.567+93_567+99del (n.567+93_567+99del)
c.294+93_294+99del (n.294+93_294+99del)
gnomAD v4
6g.107245450T>ACA1092899982PDSS2c.702+98A>T (n.702+98A>T)
c.567+98A>T (n.567+98A>T)
c.294+98A>T (n.294+98A>T)
dbSNP gnomAD v3 gnomAD v4
6g.107245450T>CCA816881451PDSS2c.702+98A>G (n.702+98A>G)
c.567+98A>G (n.567+98A>G)
c.294+98A>G (n.294+98A>G)
dbSNP gnomAD v3 gnomAD v4
6g.107245450T>GCA2679875385PDSS2c.702+98A>C (n.702+98A>C)
c.567+98A>C (n.567+98A>C)
c.294+98A>C (n.294+98A>C)
gnomAD v4
6g.107245450T=CA1653773626PDSS2c.702+98A= (n.702+98A=)
c.567+98A= (n.567+98A=)
c.294+98A= (n.294+98A=)
6g.107245450_107245452delCA569507477PDSS2c.702+96_702+98del (n.702+96_702+98del)
c.567+96_567+98del (n.567+96_567+98del)
c.294+96_294+98del (n.294+96_294+98del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245451_107245452delCA1092899987PDSS2c.702+97_702+98del (n.702+97_702+98del)
c.567+97_567+98del (n.567+97_567+98del)
c.294+97_294+98del (n.294+97_294+98del)
gnomAD v3 gnomAD v4
6g.107245450_107245454delCA1092899983PDSS2c.702+94_702+98del (n.702+94_702+98del)
c.567+94_567+98del (n.567+94_567+98del)
c.294+94_294+98del (n.294+94_294+98del)
gnomAD v3 gnomAD v4
6g.107245450_107245465delCA1092899991PDSS2c.702+83_702+98del (n.702+83_702+98del)
c.567+83_567+98del (n.567+83_567+98del)
c.294+83_294+98del (n.294+83_294+98del)
gnomAD v3 gnomAD v4
6g.107245451delCA2679875386PDSS2c.702+97del (n.702+97del)
c.567+97del (n.567+97del)
c.294+97del (n.294+97del)
gnomAD v4
6g.107245451G>ACA1092899997PDSS2c.702+97C>T (n.702+97C>T)
c.567+97C>T (n.567+97C>T)
c.294+97C>T (n.294+97C>T)
gnomAD v3 gnomAD v4
6g.107245451G=CA1653773627PDSS2c.702+97C= (n.702+97C=)
c.567+97C= (n.567+97C=)
c.294+97C= (n.294+97C=)
6g.107245451G>TCA1092899999PDSS2c.702+97C>A (n.702+97C>A)
c.567+97C>A (n.567+97C>A)
c.294+97C>A (n.294+97C>A)
dbSNP gnomAD v3 gnomAD v4
6g.107245452T>ACA1092900000PDSS2c.702+96A>T (n.702+96A>T)
c.567+96A>T (n.567+96A>T)
c.294+96A>T (n.294+96A>T)
dbSNP gnomAD v3 gnomAD v4
6g.107245452T>CCA2679875387PDSS2c.702+96A>G (n.702+96A>G)
c.567+96A>G (n.567+96A>G)
c.294+96A>G (n.294+96A>G)
gnomAD v4
6g.107245452T>GCA1092900003PDSS2c.702+96A>C (n.702+96A>C)
c.567+96A>C (n.567+96A>C)
c.294+96A>C (n.294+96A>C)
gnomAD v3 gnomAD v4
6g.107245452T=CA1653773628PDSS2c.702+96A= (n.702+96A=)
c.567+96A= (n.567+96A=)
c.294+96A= (n.294+96A=)
6g.107245453A=CA1653773629PDSS2c.702+95T= (n.702+95T=)
c.567+95T= (n.567+95T=)
c.294+95T= (n.294+95T=)
6g.107245453A>CCA2679875388PDSS2c.702+95T>G (n.702+95T>G)
c.567+95T>G (n.567+95T>G)
c.294+95T>G (n.294+95T>G)
gnomAD v4
6g.107245453A>GCA816881452PDSS2c.702+95T>C (n.702+95T>C)
c.567+95T>C (n.567+95T>C)
c.294+95T>C (n.294+95T>C)
dbSNP
6g.107245453A>TCA2679875389PDSS2c.702+95T>A (n.702+95T>A)
c.567+95T>A (n.567+95T>A)
c.294+95T>A (n.294+95T>A)
gnomAD v4
6g.107245453_107245454insAAAAAAACA1092900008PDSS2c.702+95_702+96insTTTTTTT (n.702+95_702+96insTTTTTTT)
c.567+95_567+96insTTTTTTT (n.567+95_567+96insTTTTTTT)
c.294+95_294+96insTTTTTTT (n.294+95_294+96insTTTTTTT)
gnomAD v3 gnomAD v4
6g.107245453_107245454insAAATTTAAAAAAAAAACA2530595017PDSS2c.702+95_702+96insTTTTTTTTTAAATTTT (n.702+95_702+96insTTTTTTTTTAAATTTT)
c.567+95_567+96insTTTTTTTTTAAATTTT (n.567+95_567+96insTTTTTTTTTAAATTTT)
c.294+95_294+96insTTTTTTTTTAAATTTT (n.294+95_294+96insTTTTTTTTTAAATTTT)
6g.107245453dupCA2772514126PDSS2c.702+95dup (n.702+95dup)
c.567+95dup (n.567+95dup)
c.294+95dup (n.294+95dup)
6g.107245453_107245454insACCA2679875390PDSS2c.702+94_702+95insGT (n.702+94_702+95insGT)
c.567+94_567+95insGT (n.567+94_567+95insGT)
c.294+94_294+95insGT (n.294+94_294+95insGT)
gnomAD v4
6g.107245454C>ACA569507478PDSS2c.702+94G>T (n.702+94G>T)
c.567+94G>T (n.567+94G>T)
c.294+94G>T (n.294+94G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245454C=CA1653773630PDSS2c.702+94G= (n.702+94G=)
c.567+94G= (n.567+94G=)
c.294+94G= (n.294+94G=)
6g.107245454C>TCA2679875391PDSS2c.702+94G>A (n.702+94G>A)
c.567+94G>A (n.567+94G>A)
c.294+94G>A (n.294+94G>A)
gnomAD v4
6g.107245455A>CCA2679875393PDSS2c.702+93T>G (n.702+93T>G)
c.567+93T>G (n.567+93T>G)
c.294+93T>G (n.294+93T>G)
gnomAD v4
6g.107245456delCA2679875392PDSS2c.702+93del (n.702+93del)
c.567+93del (n.567+93del)
c.294+93del (n.294+93del)
gnomAD v4
6g.107245456A=CA1653773633PDSS2c.702+92T= (n.702+92T=)
c.567+92T= (n.567+92T=)
c.294+92T= (n.294+92T=)
6g.107245456A>CCA816881460PDSS2c.702+92T>G (n.702+92T>G)
c.567+92T>G (n.567+92T>G)
c.294+92T>G (n.294+92T>G)
dbSNP gnomAD v4
6g.107245456A>GCA2679875395PDSS2c.702+92T>C (n.702+92T>C)
c.567+92T>C (n.567+92T>C)
c.294+92T>C (n.294+92T>C)
gnomAD v4
6g.107245456A>TCA2679875394PDSS2c.702+92T>A (n.702+92T>A)
c.567+92T>A (n.567+92T>A)
c.294+92T>A (n.294+92T>A)
gnomAD v4
6g.107245456_107245459delinsATTTCA1653773632PDSS2c.702+89_702+92delinsAAAT (n.702+89_702+92delinsAAAT)
c.567+89_567+92delinsAAAT (n.567+89_567+92delinsAAAT)
c.294+89_294+92delinsAAAT (n.294+89_294+92delinsAAAT)
6g.107245456_107245465delinsATTTAAACACCA1653773631PDSS2c.702+83_702+92delinsGTGTTTAAAT (n.702+83_702+92delinsGTGTTTAAAT)
c.567+83_567+92delinsGTGTTTAAAT (n.567+83_567+92delinsGTGTTTAAAT)
c.294+83_294+92delinsGTGTTTAAAT (n.294+83_294+92delinsGTGTTTAAAT)
6g.107245457T>ACA569507479PDSS2c.702+91A>T (n.702+91A>T)
c.567+91A>T (n.567+91A>T)
c.294+91A>T (n.294+91A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245457T=CA1653773634PDSS2c.702+91A= (n.702+91A=)
c.567+91A= (n.567+91A=)
c.294+91A= (n.294+91A=)
6g.107245457_107245459delCA569507480PDSS2c.702+89_702+91del (n.702+89_702+91del)
c.567+89_567+91del (n.567+89_567+91del)
c.294+89_294+91del (n.294+89_294+91del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245458_107245459delCA1092900020PDSS2c.702+90_702+91del (n.702+90_702+91del)
c.567+90_567+91del (n.567+90_567+91del)
c.294+90_294+91del (n.294+90_294+91del)
6g.107245457_107245465delCA569507481PDSS2c.702+83_702+91del (n.702+83_702+91del)
c.567+83_567+91del (n.567+83_567+91del)
c.294+83_294+91del (n.294+83_294+91del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245458T>ACA569507482PDSS2c.702+90A>T (n.702+90A>T)
c.567+90A>T (n.567+90A>T)
c.294+90A>T (n.294+90A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245458T=CA1653773635PDSS2c.702+90A= (n.702+90A=)
c.567+90A= (n.567+90A=)
c.294+90A= (n.294+90A=)
6g.107245458_107245459insAAAAAAAAACA1092900025PDSS2c.702+89_702+90insTTTTTTTTT (n.702+89_702+90insTTTTTTTTT)
c.567+89_567+90insTTTTTTTTT (n.567+89_567+90insTTTTTTTTT)
c.294+89_294+90insTTTTTTTTT (n.294+89_294+90insTTTTTTTTT)
6g.107245459T>ACA569507483PDSS2c.702+89A>T (n.702+89A>T)
c.567+89A>T (n.567+89A>T)
c.294+89A>T (n.294+89A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245459T=CA1653773636PDSS2c.702+89A= (n.702+89A=)
c.567+89A= (n.567+89A=)
c.294+89A= (n.294+89A=)
6g.107245460A>TCA2578825641PDSS2c.702+88T>A (n.702+88T>A)
c.567+88T>A (n.567+88T>A)
c.294+88T>A (n.294+88T>A)
gnomAD v4
6g.107245462A>GCA2772514127PDSS2c.702+86T>C (n.702+86T>C)
c.567+86T>C (n.567+86T>C)
c.294+86T>C (n.294+86T>C)
6g.107245462_107245463delinsACCA1653773638PDSS2c.702+85_702+86delinsGT (n.702+85_702+86delinsGT)
c.567+85_567+86delinsGT (n.567+85_567+86delinsGT)
c.294+85_294+86delinsGT (n.294+85_294+86delinsGT)
6g.107245462_107245465delinsACACCA1653773637PDSS2c.702+83_702+86delinsGTGT (n.702+83_702+86delinsGTGT)
c.567+83_567+86delinsGTGT (n.567+83_567+86delinsGTGT)
c.294+83_294+86delinsGTGT (n.294+83_294+86delinsGTGT)
6g.107245463_107245466delCA2679875396PDSS2c.702+83_702+86del (n.702+83_702+86del)
c.567+83_567+86del (n.567+83_567+86del)
c.294+83_294+86del (n.294+83_294+86del)
gnomAD v4
6g.107245463delCA569507485PDSS2c.702+85del (n.702+85del)
c.567+85del (n.567+85del)
c.294+85del (n.294+85del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245463C>ACA569507486PDSS2c.702+85G>T (n.702+85G>T)
c.567+85G>T (n.567+85G>T)
c.294+85G>T (n.294+85G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245463C=CA1653773642PDSS2c.702+85G= (n.702+85G=)
c.567+85G= (n.567+85G=)
c.294+85G= (n.294+85G=)
6g.107245463C>TCA2602580559PDSS2c.702+85G>A (n.702+85G>A)
c.567+85G>A (n.567+85G>A)
c.294+85G>A (n.294+85G>A)
gnomAD v3 gnomAD v4
6g.107245463_107245465delCA569507484PDSS2c.702+83_702+85del (n.702+83_702+85del)
c.567+83_567+85del (n.567+83_567+85del)
c.294+83_294+85del (n.294+83_294+85del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245464A=CA1653773643PDSS2c.702+84T= (n.702+84T=)
c.567+84T= (n.567+84T=)
c.294+84T= (n.294+84T=)
6g.107245464A>CCA816881499PDSS2c.702+84T>G (n.702+84T>G)
c.567+84T>G (n.567+84T>G)
c.294+84T>G (n.294+84T>G)
dbSNP gnomAD v3 gnomAD v4
6g.107245465C>ACA569507487PDSS2c.702+83G>T (n.702+83G>T)
c.567+83G>T (n.567+83G>T)
c.294+83G>T (n.294+83G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245465C=CA1653773644PDSS2c.702+83G= (n.702+83G=)
c.567+83G= (n.567+83G=)
c.294+83G= (n.294+83G=)
6g.107245465C>GCA1092900027PDSS2c.702+83G>C (n.702+83G>C)
c.567+83G>C (n.567+83G>C)
c.294+83G>C (n.294+83G>C)
dbSNP gnomAD v3 gnomAD v4
6g.107245465C>TCA1092900030PDSS2c.702+83G>A (n.702+83G>A)
c.567+83G>A (n.567+83G>A)
c.294+83G>A (n.294+83G>A)
gnomAD v3 gnomAD v4
6g.107245466A>GCA2679875397PDSS2c.702+82T>C (n.702+82T>C)
c.567+82T>C (n.567+82T>C)
c.294+82T>C (n.294+82T>C)
gnomAD v4
6g.107245467A=CA1653773647PDSS2c.702+81T= (n.702+81T=)
c.567+81T= (n.567+81T=)
c.294+81T= (n.294+81T=)
6g.107245467A>GCA816881509PDSS2c.702+81T>C (n.702+81T>C)
c.567+81T>C (n.567+81T>C)
c.294+81T>C (n.294+81T>C)
dbSNP gnomAD v3 gnomAD v4
6g.107245468A>CCA2679875398PDSS2c.702+80T>G (n.702+80T>G)
c.567+80T>G (n.567+80T>G)
c.294+80T>G (n.294+80T>G)
gnomAD v4
6g.107245469_107245470delinsACCA1653773649PDSS2c.702+78_702+79delinsGT (n.702+78_702+79delinsGT)
c.567+78_567+79delinsGT (n.567+78_567+79delinsGT)
c.294+78_294+79delinsGT (n.294+78_294+79delinsGT)
6g.107245470delCA917828261PDSS2c.702+78del (n.702+78del)
c.567+78del (n.567+78del)
c.294+78del (n.294+78del)
dbSNP
6g.107245470C>ACA569507488PDSS2c.702+78G>T (n.702+78G>T)
c.567+78G>T (n.567+78G>T)
c.294+78G>T (n.294+78G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245470C=CA1653773650PDSS2c.702+78G= (n.702+78G=)
c.567+78G= (n.567+78G=)
c.294+78G= (n.294+78G=)
6g.107245470C>TCA1092900036PDSS2c.702+78G>A (n.702+78G>A)
c.567+78G>A (n.567+78G>A)
c.294+78G>A (n.294+78G>A)
gnomAD v3 gnomAD v4
6g.107245470_107245473delCA1092900035PDSS2c.702+75_702+78del (n.702+75_702+78del)
c.567+75_567+78del (n.567+75_567+78del)
c.294+75_294+78del (n.294+75_294+78del)
gnomAD v3 gnomAD v4
6g.107245471A=CA1653773651PDSS2c.702+77T= (n.702+77T=)
c.567+77T= (n.567+77T=)
c.294+77T= (n.294+77T=)
6g.107245471A>GCA145601459PDSS2c.702+77T>C (n.702+77T>C)
c.567+77T>C (n.567+77T>C)
c.294+77T>C (n.294+77T>C)
dbSNP gnomAD v4
6g.107245473G>ACA816881524PDSS2c.702+75C>T (n.702+75C>T)
c.567+75C>T (n.567+75C>T)
c.294+75C>T (n.294+75C>T)
dbSNP gnomAD v3 gnomAD v4
6g.107245473G>CCA2679875399PDSS2c.702+75C>G (n.702+75C>G)
c.567+75C>G (n.567+75C>G)
c.294+75C>G (n.294+75C>G)
gnomAD v4
6g.107245473G=CA1653773652PDSS2c.702+75C= (n.702+75C=)
c.567+75C= (n.567+75C=)
c.294+75C= (n.294+75C=)
6g.107245473G>TCA1092900038PDSS2c.702+75C>A (n.702+75C>A)
c.567+75C>A (n.567+75C>A)
c.294+75C>A (n.294+75C>A)
dbSNP gnomAD v3 gnomAD v4
6g.107245474A>CCA2679875400PDSS2c.702+74T>G (n.702+74T>G)
c.567+74T>G (n.567+74T>G)
c.294+74T>G (n.294+74T>G)
gnomAD v4
6g.107245474A>GCA2679875401PDSS2c.702+74T>C (n.702+74T>C)
c.567+74T>C (n.567+74T>C)
c.294+74T>C (n.294+74T>C)
gnomAD v4
6g.107245474A>TCA2578825642PDSS2c.702+74T>A (n.702+74T>A)
c.567+74T>A (n.567+74T>A)
c.294+74T>A (n.294+74T>A)
6g.107245475A=CA1653773653PDSS2c.702+73T= (n.702+73T=)
c.567+73T= (n.567+73T=)
c.294+73T= (n.294+73T=)
6g.107245475A>GCA1653773654PDSS2c.702+73T>C (n.702+73T>C)
c.567+73T>C (n.567+73T>C)
c.294+73T>C (n.294+73T>C)
dbSNP
6g.107245476T>ACA816881532PDSS2c.702+72A>T (n.702+72A>T)
c.567+72A>T (n.567+72A>T)
c.294+72A>T (n.294+72A>T)
dbSNP gnomAD v3 gnomAD v4
6g.107245476T>CCA2679875402PDSS2c.702+72A>G (n.702+72A>G)
c.567+72A>G (n.567+72A>G)
c.294+72A>G (n.294+72A>G)
gnomAD v4
6g.107245476T>GCA2679875403PDSS2c.702+72A>C (n.702+72A>C)
c.567+72A>C (n.567+72A>C)
c.294+72A>C (n.294+72A>C)
gnomAD v4
6g.107245476T=CA1653773655PDSS2c.702+72A= (n.702+72A=)
c.567+72A= (n.567+72A=)
c.294+72A= (n.294+72A=)
6g.107245477G>ACA1092900041PDSS2c.702+71C>T (n.702+71C>T)
c.567+71C>T (n.567+71C>T)
c.294+71C>T (n.294+71C>T)
gnomAD v3 gnomAD v4
6g.107245477G>CCA2679875404PDSS2c.702+71C>G (n.702+71C>G)
c.567+71C>G (n.567+71C>G)
c.294+71C>G (n.294+71C>G)
gnomAD v4
6g.107245477G>TCA1092900042PDSS2c.702+71C>A (n.702+71C>A)
c.567+71C>A (n.567+71C>A)
c.294+71C>A (n.294+71C>A)
dbSNP gnomAD v3 gnomAD v4
6g.107245478A>GCA2679875405PDSS2c.702+70T>C (n.702+70T>C)
c.567+70T>C (n.567+70T>C)
c.294+70T>C (n.294+70T>C)
gnomAD v4
6g.107245479C>ACA1092900044PDSS2c.702+69G>T (n.702+69G>T)
c.567+69G>T (n.567+69G>T)
c.294+69G>T (n.294+69G>T)
gnomAD v3 gnomAD v4
6g.107245479C>TCA2679875406PDSS2c.702+69G>A (n.702+69G>A)
c.567+69G>A (n.567+69G>A)
c.294+69G>A (n.294+69G>A)
gnomAD v4
6g.107245480A=CA1653773656PDSS2c.702+68T= (n.702+68T=)
c.567+68T= (n.567+68T=)
c.294+68T= (n.294+68T=)
6g.107245480A>GCA1653773657PDSS2c.702+68T>C (n.702+68T>C)
c.567+68T>C (n.567+68T>C)
c.294+68T>C (n.294+68T>C)
dbSNP gnomAD v4
6g.107245481T>ACA2679875407PDSS2c.702+67A>T (n.702+67A>T)
c.567+67A>T (n.567+67A>T)
c.294+67A>T (n.294+67A>T)
gnomAD v4
6g.107245482T>GCA2679875408PDSS2c.702+66A>C (n.702+66A>C)
c.567+66A>C (n.567+66A>C)
c.294+66A>C (n.294+66A>C)
gnomAD v4
6g.107245485C>ACA2679875409PDSS2c.702+63G>T (n.702+63G>T)
c.567+63G>T (n.567+63G>T)
c.294+63G>T (n.294+63G>T)
gnomAD v4
6g.107245485C=CA1653773658PDSS2c.702+63G= (n.702+63G=)
c.567+63G= (n.567+63G=)
c.294+63G= (n.294+63G=)
6g.107245485C>GCA2679875410PDSS2c.702+63G>C (n.702+63G>C)
c.567+63G>C (n.567+63G>C)
c.294+63G>C (n.294+63G>C)
gnomAD v4
6g.107245485C>TCA145601460PDSS2c.702+63G>A (n.702+63G>A)
c.567+63G>A (n.567+63G>A)
c.294+63G>A (n.294+63G>A)
dbSNP gnomAD v4
6g.107245486G>ACA145601461PDSS2c.702+62C>T (n.702+62C>T)
c.567+62C>T (n.567+62C>T)
c.294+62C>T (n.294+62C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245486G=CA1653773660PDSS2c.702+62C= (n.702+62C=)
c.567+62C= (n.567+62C=)
c.294+62C= (n.294+62C=)
6g.107245486G>TCA2679875411PDSS2c.702+62C>A (n.702+62C>A)
c.567+62C>A (n.567+62C>A)
c.294+62C>A (n.294+62C>A)
gnomAD v4
6g.107245487T>CCA2679875412PDSS2c.702+61A>G (n.702+61A>G)
c.567+61A>G (n.567+61A>G)
c.294+61A>G (n.294+61A>G)
gnomAD v4
6g.107245489A>GCA2679875413PDSS2c.702+59T>C (n.702+59T>C)
c.567+59T>C (n.567+59T>C)
c.294+59T>C (n.294+59T>C)
gnomAD v4
6g.107245490T>ACA2679875415PDSS2c.702+58A>T (n.702+58A>T)
c.567+58A>T (n.567+58A>T)
c.294+58A>T (n.294+58A>T)
gnomAD v4
6g.107245490T>CCA2679875414PDSS2c.702+58A>G (n.702+58A>G)
c.567+58A>G (n.567+58A>G)
c.294+58A>G (n.294+58A>G)
gnomAD v4
6g.107245491T>CCA2679875416PDSS2c.702+57A>G (n.702+57A>G)
c.567+57A>G (n.567+57A>G)
c.294+57A>G (n.294+57A>G)
gnomAD v4
6g.107245492C>ACA2578825643PDSS2c.702+56G>T (n.702+56G>T)
c.567+56G>T (n.567+56G>T)
c.294+56G>T (n.294+56G>T)
gnomAD v4
6g.107245492C>GCA2772514128PDSS2c.702+56G>C (n.702+56G>C)
c.567+56G>C (n.567+56G>C)
c.294+56G>C (n.294+56G>C)
6g.107245492C>TCA2679875417PDSS2c.702+56G>A (n.702+56G>A)
c.567+56G>A (n.567+56G>A)
c.294+56G>A (n.294+56G>A)
gnomAD v4
6g.107245493T>CCA569507489PDSS2c.702+55A>G (n.702+55A>G)
c.567+55A>G (n.567+55A>G)
c.294+55A>G (n.294+55A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245493T>GCA2578825644PDSS2c.702+55A>C (n.702+55A>C)
c.567+55A>C (n.567+55A>C)
c.294+55A>C (n.294+55A>C)
gnomAD v4
6g.107245493T=CA1653773663PDSS2c.702+55A= (n.702+55A=)
c.567+55A= (n.567+55A=)
c.294+55A= (n.294+55A=)
6g.107245494A>GCA2679875418PDSS2c.702+54T>C (n.702+54T>C)
c.567+54T>C (n.567+54T>C)
c.294+54T>C (n.294+54T>C)
gnomAD v4
6g.107245494A>TCA2679875419PDSS2c.702+54T>A (n.702+54T>A)
c.567+54T>A (n.567+54T>A)
c.294+54T>A (n.294+54T>A)
gnomAD v4
6g.107245495G>TCA2578825645PDSS2c.702+53C>A (n.702+53C>A)
c.567+53C>A (n.567+53C>A)
c.294+53C>A (n.294+53C>A)
gnomAD v4
6g.107245496T>CCA2679875420PDSS2c.702+52A>G (n.702+52A>G)
c.567+52A>G (n.567+52A>G)
c.294+52A>G (n.294+52A>G)
gnomAD v4
6g.107245497T>CCA2679875421PDSS2c.702+51A>G (n.702+51A>G)
c.567+51A>G (n.567+51A>G)
c.294+51A>G (n.294+51A>G)
gnomAD v4
6g.107245498G>TCA2578825646PDSS2c.702+50C>A (n.702+50C>A)
c.567+50C>A (n.567+50C>A)
c.294+50C>A (n.294+50C>A)
gnomAD v4
6g.107245499T>CCA2679875422PDSS2c.702+49A>G (n.702+49A>G)
c.567+49A>G (n.567+49A>G)
c.294+49A>G (n.294+49A>G)
gnomAD v4
6g.107245499_107245502delinsTACCCA1653773666PDSS2c.702+46_702+49delinsGGTA (n.702+46_702+49delinsGGTA)
c.567+46_567+49delinsGGTA (n.567+46_567+49delinsGGTA)
c.294+46_294+49delinsGGTA (n.294+46_294+49delinsGGTA)
6g.107245500A=CA1653773669PDSS2c.702+48T= (n.702+48T=)
c.567+48T= (n.567+48T=)
c.294+48T= (n.294+48T=)
6g.107245500A>GCA2679875423PDSS2c.702+48T>C (n.702+48T>C)
c.567+48T>C (n.567+48T>C)
c.294+48T>C (n.294+48T>C)
gnomAD v4
6g.107245500A>TCA1653773670PDSS2c.702+48T>A (n.702+48T>A)
c.567+48T>A (n.567+48T>A)
c.294+48T>A (n.294+48T>A)
dbSNP gnomAD v4
6g.107245502_107245504delCA3946037PDSS2c.702+46_702+48del (n.702+46_702+48del)
c.567+46_567+48del (n.567+46_567+48del)
c.294+46_294+48del (n.294+46_294+48del)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107245501C>ACA1092900051PDSS2c.702+47G>T (n.702+47G>T)
c.567+47G>T (n.567+47G>T)
c.294+47G>T (n.294+47G>T)
dbSNP gnomAD v3 gnomAD v4
6g.107245501C=CA1653773672PDSS2c.702+47G= (n.702+47G=)
c.567+47G= (n.567+47G=)
c.294+47G= (n.294+47G=)
6g.107245501C>GCA1653773675PDSS2c.702+47G>C (n.702+47G>C)
c.567+47G>C (n.567+47G>C)
c.294+47G>C (n.294+47G>C)
dbSNP gnomAD v4
6g.107245501C>TCA2679875424PDSS2c.702+47G>A (n.702+47G>A)
c.567+47G>A (n.567+47G>A)
c.294+47G>A (n.294+47G>A)
gnomAD v4
6g.107245502C>ACA2679875425PDSS2c.702+46G>T (n.702+46G>T)
c.567+46G>T (n.567+46G>T)
c.294+46G>T (n.294+46G>T)
gnomAD v4
6g.107245502C>GCA2679875426PDSS2c.702+46G>C (n.702+46G>C)
c.567+46G>C (n.567+46G>C)
c.294+46G>C (n.294+46G>C)
gnomAD v4
6g.107245502C>TCA2578825647PDSS2c.702+46G>A (n.702+46G>A)
c.567+46G>A (n.567+46G>A)
c.294+46G>A (n.294+46G>A)
gnomAD v4

Number of alleles fetched