Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.107245402_107245403delinsTA | CA1653773289 | PDSS2 | c.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) | |
6 | g.107245403del | CA1092899536 | PDSS2 | c.702+145del (n.702+145del) c.567+145del (n.567+145del) c.294+145del (n.294+145del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107245403A>G | CA2679875345 | PDSS2 | c.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 |
6 | g.107245404G>A | CA1092899537 | PDSS2 | c.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 |
6 | g.107245404G= | CA1653773292 | PDSS2 | c.702+144C= (n.702+144C=) c.567+144C= (n.567+144C=) c.294+144C= (n.294+144C=) | |
6 | g.107245404G>T | CA2679875346 | PDSS2 | c.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 |
6 | g.107245405C>A | CA2679875347 | PDSS2 | c.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 |
6 | g.107245406C>A | CA816881297 | PDSS2 | c.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 |
6 | g.107245406C= | CA1653773295 | PDSS2 | c.702+142G= (n.702+142G=) c.567+142G= (n.567+142G=) c.294+142G= (n.294+142G=) | |
6 | g.107245406C>T | CA2679875348 | PDSS2 | c.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 |
6 | g.107245410dup | CA2679875349 | PDSS2 | c.702+141dup (n.702+141dup) c.567+141dup (n.567+141dup) c.294+141dup (n.294+141dup) | gnomAD v4 |
6 | g.107245408A>G | CA2679875350 | PDSS2 | c.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 |
6 | g.107245411C>A | CA1092899542 | PDSS2 | c.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 |
6 | g.107245411C>T | CA2679875351 | PDSS2 | c.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 |
6 | g.107245411_107245418del | CA1092899539 | PDSS2 | c.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 |
6 | g.107245412A= | CA1653773297 | PDSS2 | c.702+136T= (n.702+136T=) c.567+136T= (n.567+136T=) c.294+136T= (n.294+136T=) | |
6 | g.107245412A>C | CA145601456 | PDSS2 | c.702+136T>G (n.702+136T>G) c.567+136T>G (n.567+136T>G) c.294+136T>G (n.294+136T>G) | dbSNP |
6 | g.107245413C>A | CA1092899546 | PDSS2 | c.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 |
6 | g.107245413C= | CA1653773299 | PDSS2 | c.702+135G= (n.702+135G=) c.567+135G= (n.567+135G=) c.294+135G= (n.294+135G=) | |
6 | g.107245413C>T | CA2679875352 | PDSS2 | c.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 |
6 | g.107245413_107245414delinsCT | CA1653773300 | PDSS2 | c.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) | |
6 | g.107245414del | CA1653773304 | PDSS2 | c.702+134del (n.702+134del) c.567+134del (n.567+134del) c.294+134del (n.294+134del) | dbSNP |
6 | g.107245414T>A | CA816881301 | PDSS2 | c.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 |
6 | g.107245414T>C | CA816881305 | PDSS2 | c.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 |
6 | g.107245414T= | CA1653773305 | PDSS2 | c.702+134A= (n.702+134A=) c.567+134A= (n.567+134A=) c.294+134A= (n.294+134A=) | |
6 | g.107245414_107245418delinsTAATC | CA1653773308 | PDSS2 | c.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) | |
6 | g.107245414_107245419delinsTAATCA | CA1653773310 | PDSS2 | c.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) | |
6 | g.107245415A>C | CA2772514119 | PDSS2 | c.702+133T>G (n.702+133T>G) c.567+133T>G (n.567+133T>G) c.294+133T>G (n.294+133T>G) | |
6 | g.107245415_107245418delinsAATC | CA1653773316 | PDSS2 | c.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) | |
6 | g.107245417_107245420del | CA1653773314 | PDSS2 | c.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 |
6 | g.107245417_107245421del | CA1653773315 | PDSS2 | c.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 |
6 | g.107245416_107245417delinsAT | CA1653773318 | PDSS2 | c.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) | |
6 | g.107245416_107245418delinsATC | CA1653773320 | PDSS2 | c.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) | |
6 | g.107245417_107245419del | CA1653773317 | PDSS2 | c.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 |
6 | g.107245417del | CA1653773335 | PDSS2 | c.702+131del (n.702+131del) c.567+131del (n.567+131del) c.294+131del (n.294+131del) | dbSNP |
6 | g.107245417T>A | CA816881311 | PDSS2 | c.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 |
6 | g.107245417T>C | CA816881316 | PDSS2 | c.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 |
6 | g.107245417T= | CA1653773331 | PDSS2 | c.702+131A= (n.702+131A=) c.567+131A= (n.567+131A=) c.294+131A= (n.294+131A=) | |
6 | g.107245417_107245418del | CA816881308 | PDSS2 | c.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 |
6 | g.107245417_107245418delinsTC | CA1653773330 | PDSS2 | c.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) | |
6 | g.107245417_107245419delinsTCA | CA1653773329 | PDSS2 | c.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) | |
6 | g.107245417_107245421delinsTCAAA | CA1653773327 | PDSS2 | c.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) | |
6 | g.107245417_107245423delinsTCAAAAA | CA1653773326 | PDSS2 | c.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) | |
6 | g.107245417_107245418insA | CA2679875353 | PDSS2 | c.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 |
6 | g.107245417_107245418insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899552 | PDSS2 | c.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 |
6 | g.107245418del | CA1092899554 | PDSS2 | c.702+130del (n.702+130del) c.567+130del (n.567+130del) c.294+130del (n.294+130del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107245418C>A | CA816881319 | PDSS2 | c.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 |
6 | g.107245418C= | CA1653773345 | PDSS2 | c.702+130G= (n.702+130G=) c.567+130G= (n.567+130G=) c.294+130G= (n.294+130G=) | |
6 | g.107245418C>T | CA1092899556 | PDSS2 | c.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 |
6 | g.107245418dup | CA1653773343 | PDSS2 | c.702+130dup (n.702+130dup) c.567+130dup (n.567+130dup) c.294+130dup (n.294+130dup) | dbSNP |
6 | g.107245418_107245419del | CA1653773350 | PDSS2 | c.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 |
6 | g.107245418_107245420del | CA2772514120 | PDSS2 | c.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) | |
6 | g.107245418_107245421del | CA1653773352 | PDSS2 | c.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 |
6 | g.107245418_107245423del | CA1653773348 | PDSS2 | c.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 |
6 | g.107245418_107245437delinsCAAAAAAAAAAAAAAAAAAA | CA1653773346 | PDSS2 | c.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) | |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899553 | PDSS2 | c.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 |
6 | g.107245419A= | CA1653773551 | PDSS2 | c.702+129T= (n.702+129T=) c.567+129T= (n.567+129T=) c.294+129T= (n.294+129T=) | |
6 | g.107245419A>C | CA1653773554 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899903 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899900 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899897 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899895 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899893 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899891 | PDSS2 | c.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 |
6 | g.107245445_107245446insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899766 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899890 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899714 | PDSS2 | c.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 |
6 | g.107245445_107245446insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899787 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899889 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899716 | PDSS2 | c.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 |
6 | g.107245445_107245446insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899702 | PDSS2 | c.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 |
6 | g.107245445_107245446insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899773 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899863 | PDSS2 | c.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) | |
6 | g.107245445_107245446insAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899713 | PDSS2 | c.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 |
6 | g.107245445_107245446insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899769 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899887 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899884 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899706 | PDSS2 | c.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 |
6 | g.107245445_107245446insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899768 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2772514122 | PDSS2 | c.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) | |
6 | g.107245445_107245446insAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899728 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899882 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899725 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899879 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899737 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899876 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899874 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899871 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899868 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899866 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2772514121 | PDSS2 | c.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) | |
6 | g.107245445_107245446insAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899709 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899865 | PDSS2 | c.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) | |
6 | g.107245445_107245446insAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899699 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899704 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899861 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899724 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2772514123 | PDSS2 | c.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) | |
6 | g.107245445_107245446insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899736 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899741 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899712 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899740 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899739 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899720 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899748 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899721 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899744 | PDSS2 | c.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 |
6 | g.107245445dup | CA145601458 | PDSS2 | c.702+129dup (n.702+129dup) c.567+129dup (n.567+129dup) c.294+129dup (n.294+129dup) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107245444_107245445dup | CA816881400 | PDSS2 | c.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 |
6 | g.107245443_107245445dup | CA816881405 | PDSS2 | c.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 |
6 | g.107245442_107245445dup | CA1092899841 | PDSS2 | c.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 |
6 | g.107245441_107245445dup | CA1092899839 | PDSS2 | c.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 |
6 | g.107245440_107245445dup | CA1092899838 | PDSS2 | c.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 |
6 | g.107245439_107245445dup | CA1092899762 | PDSS2 | c.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 |
6 | g.107245438_107245445dup | CA816881407 | PDSS2 | c.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 |
6 | g.107245437_107245445dup | CA1092899836 | PDSS2 | c.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 |
6 | g.107245436_107245445dup | CA1092899833 | PDSS2 | c.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 |
6 | g.107245435_107245445dup | CA1092899788 | PDSS2 | c.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 |
6 | g.107245434_107245445dup | CA1092899829 | PDSS2 | c.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 |
6 | g.107245433_107245445dup | CA1092899822 | PDSS2 | c.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 |
6 | g.107245432_107245445dup | CA1092899814 | PDSS2 | c.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 |
6 | g.107245431_107245445dup | CA1092899812 | PDSS2 | c.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 |
6 | g.107245430_107245445dup | CA1092899807 | PDSS2 | c.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 |
6 | g.107245429_107245445dup | CA1092899804 | PDSS2 | c.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 |
6 | g.107245428_107245445dup | CA1092899797 | PDSS2 | c.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 |
6 | g.107245427_107245445dup | CA1092899795 | PDSS2 | c.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 |
6 | g.107245426_107245445dup | CA1092899794 | PDSS2 | c.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 |
6 | g.107245425_107245445dup | CA1092899793 | PDSS2 | c.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 |
6 | g.107245422_107245445dup | CA1092899790 | PDSS2 | c.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 |
6 | g.107245421_107245445dup | CA1092899830 | PDSS2 | c.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) | |
6 | g.107245420_107245445dup | CA1092899906 | PDSS2 | c.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 |
6 | g.107245419_107245445dup | CA1092899904 | PDSS2 | c.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 |
6 | g.107245445del | CA145601457 | PDSS2 | c.702+129del (n.702+129del) c.567+129del (n.567+129del) c.294+129del (n.294+129del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107245444_107245445del | CA816881410 | PDSS2 | c.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 |
6 | g.107245443_107245445del | CA816881411 | PDSS2 | c.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 |
6 | g.107245442_107245445del | CA816881338 | PDSS2 | c.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 |
6 | g.107245441_107245445del | CA816881384 | PDSS2 | c.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 |
6 | g.107245440_107245445del | CA816881398 | PDSS2 | c.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 |
6 | g.107245439_107245445del | CA816881383 | PDSS2 | c.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 |
6 | g.107245438_107245445del | CA816881382 | PDSS2 | c.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 |
6 | g.107245437_107245445del | CA816881374 | PDSS2 | c.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 |
6 | g.107245436_107245445del | CA816881367 | PDSS2 | c.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 |
6 | g.107245435_107245445del | CA816881365 | PDSS2 | c.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 |
6 | g.107245434_107245445del | CA816881364 | PDSS2 | c.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 |
6 | g.107245433_107245445del | CA816881352 | PDSS2 | c.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 |
6 | g.107245432_107245445del | CA1092899760 | PDSS2 | c.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 |
6 | g.107245431_107245445del | CA816881347 | PDSS2 | c.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 |
6 | g.107245430_107245445del | CA1653773565 | PDSS2 | c.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 |
6 | g.107245429_107245445del | CA1653773563 | PDSS2 | c.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 |
6 | g.107245427_107245445del | CA1092899751 | PDSS2 | c.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 |
6 | g.107245420A= | CA1653773592 | PDSS2 | c.702+128T= (n.702+128T=) c.567+128T= (n.567+128T=) c.294+128T= (n.294+128T=) | |
6 | g.107245420A>C | CA1653773591 | PDSS2 | c.702+128T>G (n.702+128T>G) c.567+128T>G (n.567+128T>G) c.294+128T>G (n.294+128T>G) | dbSNP |
6 | g.107245445_107245446insCAAAAAAAAAAAAAAAAAAAAAAAAAA | CA569507467 | PDSS2 | c.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 |
6 | g.107245445_107245446insAATAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1092899923 | PDSS2 | c.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 |
6 | g.107245420_107245421insG | CA569507468 | PDSS2 | c.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 |
6 | g.107245421A>C | CA2679875354 | PDSS2 | c.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 |
6 | g.107245422A>C | CA2712610300 | PDSS2 | c.702+126T>G (n.702+126T>G) c.567+126T>G (n.567+126T>G) c.294+126T>G (n.294+126T>G) | dbSNP |
6 | g.107245427A>T | CA2532683276 | PDSS2 | c.702+121T>A (n.702+121T>A) c.567+121T>A (n.567+121T>A) c.294+121T>A (n.294+121T>A) | |
6 | g.107245429A>G | CA2544151187 | PDSS2 | c.702+119T>C (n.702+119T>C) c.567+119T>C (n.567+119T>C) c.294+119T>C (n.294+119T>C) | |
6 | g.107245429A>T | CA2679875355 | PDSS2 | c.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 |
6 | g.107245431A>G | CA2679875356 | PDSS2 | c.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 |
6 | g.107245434_107245472del | CA2772514124 | PDSS2 | c.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) | |
6 | g.107245434A>T | CA2679875357 | PDSS2 | c.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 |
6 | g.107245435A>T | CA2544150658 | PDSS2 | c.702+113T>A (n.702+113T>A) c.567+113T>A (n.567+113T>A) c.294+113T>A (n.294+113T>A) | |
6 | g.107245436A>T | CA2679875358 | PDSS2 | c.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 |
6 | g.107245437A>G | CA2679875359 | PDSS2 | c.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 |
6 | g.107245439A>T | CA2679875360 | PDSS2 | c.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 |
6 | g.107245440_107245446del | CA2568743589 | PDSS2 | c.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) | |
6 | g.107245441_107245446del | CA2679875361 | PDSS2 | c.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 |
6 | g.107245442A>G | CA2679875362 | PDSS2 | c.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 |
6 | g.107245442A>T | CA2679875363 | PDSS2 | c.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 |
6 | g.107245442_107245446del | CA1092899926 | PDSS2 | c.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 |
6 | g.107245442_107245443insGC | CA2679875364 | PDSS2 | c.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 |
6 | g.107245443A>G | CA2539393451 | PDSS2 | c.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 |
6 | g.107245443_107245446del | CA569507469 | PDSS2 | c.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 |
6 | g.107245443_107245446delinsAAAG | CA1653773594 | PDSS2 | c.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) | |
6 | g.107245443_107245444insCC | CA2679875369 | PDSS2 | c.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 |
6 | g.107245443_107245444insGC | CA2679875370 | PDSS2 | c.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 |
6 | g.107245444A= | CA1653773597 | PDSS2 | c.702+104T= (n.702+104T=) c.567+104T= (n.567+104T=) c.294+104T= (n.294+104T=) | |
6 | g.107245444A>C | CA2679875367 | PDSS2 | c.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 |
6 | g.107245444A>G | CA2679875366 | PDSS2 | c.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 |
6 | g.107245444A>T | CA2679875365 | PDSS2 | c.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 |
6 | g.107245444_107245446del | CA1092899935 | PDSS2 | c.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 |
6 | g.107245444_107245446delinsAAG | CA1653773596 | PDSS2 | c.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) | |
6 | g.107245445_107245453del | CA2679875368 | PDSS2 | c.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 |
6 | g.107245445_107245464del | CA2772514125 | PDSS2 | c.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) | |
6 | g.107245445A= | CA1653773609 | PDSS2 | c.702+103T= (n.702+103T=) c.567+103T= (n.567+103T=) c.294+103T= (n.294+103T=) | |
6 | g.107245445A>G | CA1653773607 | PDSS2 | c.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 |
6 | g.107245445A>T | CA2532897732 | PDSS2 | c.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 |
6 | g.107245445_107245446insAAAAAAAAAAAATA | CA569507471 | PDSS2 | c.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 |
6 | g.107245445_107245446del | CA451564029 | PDSS2 | c.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 |
6 | g.107245445_107245446delinsAG | CA1653773610 | PDSS2 | c.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) | |
6 | g.107245445_107245447del | CA2679875374 | PDSS2 | c.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 |
6 | g.107245445_107245448delinsAGCC | CA1653773606 | PDSS2 | c.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) | |
6 | g.107245446_107245449del | CA2679875373 | PDSS2 | c.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 |
6 | g.107245445_107245451del | CA2679875372 | PDSS2 | c.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 |
6 | g.107245445_107245452delinsAGCCATGT | CA1653773605 | PDSS2 | c.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) | |
6 | g.107245446_107245453del | CA2679875375 | PDSS2 | c.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 |
6 | g.107245445_107245454delinsAGCCATGTAC | CA1653773604 | PDSS2 | c.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) | |
6 | g.107245445_107245459delinsAGCCATGTACAATTT | CA1653773602 | PDSS2 | c.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) | |
6 | g.107245446_107245464del | CA1092899937 | PDSS2 | c.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 |
6 | g.107245445_107245465delinsAGCCATGTACAATTTAAACAC | CA1653773601 | PDSS2 | c.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) | |
6 | g.107245446_107245466del | CA2679875371 | PDSS2 | c.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 |
6 | g.107245445_107245446insAG | CA816881436 | PDSS2 | c.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) | |
6 | g.107245445_107245446insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC | CA1653773619 | PDSS2 | c.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 |
6 | g.107245446del | CA451564031 | PDSS2 | c.702+102del (n.702+102del) c.567+102del (n.567+102del) c.294+102del (n.294+102del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245446G>A | CA569507476 | PDSS2 | c.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 |
6 | g.107245446G>C | CA1092899947 | PDSS2 | c.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 |
6 | g.107245446G= | CA1653773617 | PDSS2 | c.702+102C= (n.702+102C=) c.567+102C= (n.567+102C=) c.294+102C= (n.294+102C=) | |
6 | g.107245446G>T | CA1092899946 | PDSS2 | c.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 |
6 | g.107245446_107245447del | CA1092899953 | PDSS2 | c.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 |
6 | g.107245446_107245448del | CA1092899951 | PDSS2 | c.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 |
6 | g.107245446_107245452del | CA569507475 | PDSS2 | c.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 |
6 | g.107245446_107245454del | CA569507474 | PDSS2 | c.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 |
6 | g.107245446_107245459del | CA569507473 | PDSS2 | c.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 |
6 | g.107245446_107245463del | CA1092899948 | PDSS2 | c.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 |
6 | g.107245446_107245465del | CA569507472 | PDSS2 | c.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 |
6 | g.107245447C>A | CA1092899968 | PDSS2 | c.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 |
6 | g.107245447C>G | CA2679875376 | PDSS2 | c.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 |
6 | g.107245447C>T | CA2566970449 | PDSS2 | c.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 |
6 | g.107245448_107245454del | CA2679875377 | PDSS2 | c.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 |
6 | g.107245447_107245448insAAAA | CA1092899973 | PDSS2 | c.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 |
6 | g.107245448C>A | CA1092899974 | PDSS2 | c.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 |
6 | g.107245448C= | CA1653773624 | PDSS2 | c.702+100G= (n.702+100G=) c.567+100G= (n.567+100G=) c.294+100G= (n.294+100G=) | |
6 | g.107245448C>G | CA816881449 | PDSS2 | c.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 |
6 | g.107245448C>T | CA1092899978 | PDSS2 | c.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 |
6 | g.107245450_107245455del | CA2679875378 | PDSS2 | c.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 |
6 | g.107245448_107245449insCA | CA2679875381 | PDSS2 | c.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 |
6 | g.107245449A>C | CA2602580556 | PDSS2 | c.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 |
6 | g.107245449A>T | CA2679875384 | PDSS2 | c.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 |
6 | g.107245449_107245450insAA | CA2679875380 | PDSS2 | c.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 |
6 | g.107245449dup | CA2679875379 | PDSS2 | c.702+99dup (n.702+99dup) c.567+99dup (n.567+99dup) c.294+99dup (n.294+99dup) | gnomAD v4 |
6 | g.107245449_107245452delinsATGT | CA1653773625 | PDSS2 | c.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) | |
6 | g.107245449_107245453del | CA2679875382 | PDSS2 | c.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 |
6 | g.107245451_107245457del | CA2679875383 | PDSS2 | c.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 |
6 | g.107245450T>A | CA1092899982 | PDSS2 | c.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 |
6 | g.107245450T>C | CA816881451 | PDSS2 | c.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 |
6 | g.107245450T>G | CA2679875385 | PDSS2 | c.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 |
6 | g.107245450T= | CA1653773626 | PDSS2 | c.702+98A= (n.702+98A=) c.567+98A= (n.567+98A=) c.294+98A= (n.294+98A=) | |
6 | g.107245450_107245452del | CA569507477 | PDSS2 | c.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 |
6 | g.107245451_107245452del | CA1092899987 | PDSS2 | c.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 |
6 | g.107245450_107245454del | CA1092899983 | PDSS2 | c.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 |
6 | g.107245450_107245465del | CA1092899991 | PDSS2 | c.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 |
6 | g.107245451del | CA2679875386 | PDSS2 | c.702+97del (n.702+97del) c.567+97del (n.567+97del) c.294+97del (n.294+97del) | gnomAD v4 |
6 | g.107245451G>A | CA1092899997 | PDSS2 | c.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 |
6 | g.107245451G= | CA1653773627 | PDSS2 | c.702+97C= (n.702+97C=) c.567+97C= (n.567+97C=) c.294+97C= (n.294+97C=) | |
6 | g.107245451G>T | CA1092899999 | PDSS2 | c.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 |
6 | g.107245452T>A | CA1092900000 | PDSS2 | c.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 |
6 | g.107245452T>C | CA2679875387 | PDSS2 | c.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 |
6 | g.107245452T>G | CA1092900003 | PDSS2 | c.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 |
6 | g.107245452T= | CA1653773628 | PDSS2 | c.702+96A= (n.702+96A=) c.567+96A= (n.567+96A=) c.294+96A= (n.294+96A=) | |
6 | g.107245453A= | CA1653773629 | PDSS2 | c.702+95T= (n.702+95T=) c.567+95T= (n.567+95T=) c.294+95T= (n.294+95T=) | |
6 | g.107245453A>C | CA2679875388 | PDSS2 | c.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 |
6 | g.107245453A>G | CA816881452 | PDSS2 | c.702+95T>C (n.702+95T>C) c.567+95T>C (n.567+95T>C) c.294+95T>C (n.294+95T>C) | dbSNP |
6 | g.107245453A>T | CA2679875389 | PDSS2 | c.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 |
6 | g.107245453_107245454insAAAAAAA | CA1092900008 | PDSS2 | c.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 |
6 | g.107245453_107245454insAAATTTAAAAAAAAAA | CA2530595017 | PDSS2 | c.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) | |
6 | g.107245453dup | CA2772514126 | PDSS2 | c.702+95dup (n.702+95dup) c.567+95dup (n.567+95dup) c.294+95dup (n.294+95dup) | |
6 | g.107245453_107245454insAC | CA2679875390 | PDSS2 | c.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 |
6 | g.107245454C>A | CA569507478 | PDSS2 | c.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 |
6 | g.107245454C= | CA1653773630 | PDSS2 | c.702+94G= (n.702+94G=) c.567+94G= (n.567+94G=) c.294+94G= (n.294+94G=) | |
6 | g.107245454C>T | CA2679875391 | PDSS2 | c.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 |
6 | g.107245455A>C | CA2679875393 | PDSS2 | c.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 |
6 | g.107245456del | CA2679875392 | PDSS2 | c.702+93del (n.702+93del) c.567+93del (n.567+93del) c.294+93del (n.294+93del) | gnomAD v4 |
6 | g.107245456A= | CA1653773633 | PDSS2 | c.702+92T= (n.702+92T=) c.567+92T= (n.567+92T=) c.294+92T= (n.294+92T=) | |
6 | g.107245456A>C | CA816881460 | PDSS2 | c.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 |
6 | g.107245456A>G | CA2679875395 | PDSS2 | c.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 |
6 | g.107245456A>T | CA2679875394 | PDSS2 | c.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 |
6 | g.107245456_107245459delinsATTT | CA1653773632 | PDSS2 | c.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) | |
6 | g.107245456_107245465delinsATTTAAACAC | CA1653773631 | PDSS2 | c.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) | |
6 | g.107245457T>A | CA569507479 | PDSS2 | c.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 |
6 | g.107245457T= | CA1653773634 | PDSS2 | c.702+91A= (n.702+91A=) c.567+91A= (n.567+91A=) c.294+91A= (n.294+91A=) | |
6 | g.107245457_107245459del | CA569507480 | PDSS2 | c.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 |
6 | g.107245458_107245459del | CA1092900020 | PDSS2 | c.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) | |
6 | g.107245457_107245465del | CA569507481 | PDSS2 | c.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 |
6 | g.107245458T>A | CA569507482 | PDSS2 | c.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 |
6 | g.107245458T= | CA1653773635 | PDSS2 | c.702+90A= (n.702+90A=) c.567+90A= (n.567+90A=) c.294+90A= (n.294+90A=) | |
6 | g.107245458_107245459insAAAAAAAAA | CA1092900025 | PDSS2 | c.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) | |
6 | g.107245459T>A | CA569507483 | PDSS2 | c.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 |
6 | g.107245459T= | CA1653773636 | PDSS2 | c.702+89A= (n.702+89A=) c.567+89A= (n.567+89A=) c.294+89A= (n.294+89A=) | |
6 | g.107245460A>T | CA2578825641 | PDSS2 | c.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 |
6 | g.107245462A>G | CA2772514127 | PDSS2 | c.702+86T>C (n.702+86T>C) c.567+86T>C (n.567+86T>C) c.294+86T>C (n.294+86T>C) | |
6 | g.107245462_107245463delinsAC | CA1653773638 | PDSS2 | c.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) | |
6 | g.107245462_107245465delinsACAC | CA1653773637 | PDSS2 | c.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) | |
6 | g.107245463_107245466del | CA2679875396 | PDSS2 | c.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 |
6 | g.107245463del | CA569507485 | PDSS2 | c.702+85del (n.702+85del) c.567+85del (n.567+85del) c.294+85del (n.294+85del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245463C>A | CA569507486 | PDSS2 | c.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 |
6 | g.107245463C= | CA1653773642 | PDSS2 | c.702+85G= (n.702+85G=) c.567+85G= (n.567+85G=) c.294+85G= (n.294+85G=) | |
6 | g.107245463C>T | CA2602580559 | PDSS2 | c.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 |
6 | g.107245463_107245465del | CA569507484 | PDSS2 | c.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 |
6 | g.107245464A= | CA1653773643 | PDSS2 | c.702+84T= (n.702+84T=) c.567+84T= (n.567+84T=) c.294+84T= (n.294+84T=) | |
6 | g.107245464A>C | CA816881499 | PDSS2 | c.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 |
6 | g.107245465C>A | CA569507487 | PDSS2 | c.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 |
6 | g.107245465C= | CA1653773644 | PDSS2 | c.702+83G= (n.702+83G=) c.567+83G= (n.567+83G=) c.294+83G= (n.294+83G=) | |
6 | g.107245465C>G | CA1092900027 | PDSS2 | c.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 |
6 | g.107245465C>T | CA1092900030 | PDSS2 | c.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 |
6 | g.107245466A>G | CA2679875397 | PDSS2 | c.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 |
6 | g.107245467A= | CA1653773647 | PDSS2 | c.702+81T= (n.702+81T=) c.567+81T= (n.567+81T=) c.294+81T= (n.294+81T=) | |
6 | g.107245467A>G | CA816881509 | PDSS2 | c.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 |
6 | g.107245468A>C | CA2679875398 | PDSS2 | c.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 |
6 | g.107245469_107245470delinsAC | CA1653773649 | PDSS2 | c.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) | |
6 | g.107245470del | CA917828261 | PDSS2 | c.702+78del (n.702+78del) c.567+78del (n.567+78del) c.294+78del (n.294+78del) | dbSNP |
6 | g.107245470C>A | CA569507488 | PDSS2 | c.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 |
6 | g.107245470C= | CA1653773650 | PDSS2 | c.702+78G= (n.702+78G=) c.567+78G= (n.567+78G=) c.294+78G= (n.294+78G=) | |
6 | g.107245470C>T | CA1092900036 | PDSS2 | c.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 |
6 | g.107245470_107245473del | CA1092900035 | PDSS2 | c.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 |
6 | g.107245471A= | CA1653773651 | PDSS2 | c.702+77T= (n.702+77T=) c.567+77T= (n.567+77T=) c.294+77T= (n.294+77T=) | |
6 | g.107245471A>G | CA145601459 | PDSS2 | c.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 |
6 | g.107245473G>A | CA816881524 | PDSS2 | c.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 |
6 | g.107245473G>C | CA2679875399 | PDSS2 | c.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 |
6 | g.107245473G= | CA1653773652 | PDSS2 | c.702+75C= (n.702+75C=) c.567+75C= (n.567+75C=) c.294+75C= (n.294+75C=) | |
6 | g.107245473G>T | CA1092900038 | PDSS2 | c.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 |
6 | g.107245474A>C | CA2679875400 | PDSS2 | c.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 |
6 | g.107245474A>G | CA2679875401 | PDSS2 | c.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 |
6 | g.107245474A>T | CA2578825642 | PDSS2 | c.702+74T>A (n.702+74T>A) c.567+74T>A (n.567+74T>A) c.294+74T>A (n.294+74T>A) | |
6 | g.107245475A= | CA1653773653 | PDSS2 | c.702+73T= (n.702+73T=) c.567+73T= (n.567+73T=) c.294+73T= (n.294+73T=) | |
6 | g.107245475A>G | CA1653773654 | PDSS2 | c.702+73T>C (n.702+73T>C) c.567+73T>C (n.567+73T>C) c.294+73T>C (n.294+73T>C) | dbSNP |
6 | g.107245476T>A | CA816881532 | PDSS2 | c.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 |
6 | g.107245476T>C | CA2679875402 | PDSS2 | c.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 |
6 | g.107245476T>G | CA2679875403 | PDSS2 | c.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 |
6 | g.107245476T= | CA1653773655 | PDSS2 | c.702+72A= (n.702+72A=) c.567+72A= (n.567+72A=) c.294+72A= (n.294+72A=) | |
6 | g.107245477G>A | CA1092900041 | PDSS2 | c.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 |
6 | g.107245477G>C | CA2679875404 | PDSS2 | c.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 |
6 | g.107245477G>T | CA1092900042 | PDSS2 | c.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 |
6 | g.107245478A>G | CA2679875405 | PDSS2 | c.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 |
6 | g.107245479C>A | CA1092900044 | PDSS2 | c.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 |
6 | g.107245479C>T | CA2679875406 | PDSS2 | c.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 |
6 | g.107245480A= | CA1653773656 | PDSS2 | c.702+68T= (n.702+68T=) c.567+68T= (n.567+68T=) c.294+68T= (n.294+68T=) | |
6 | g.107245480A>G | CA1653773657 | PDSS2 | c.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 |
6 | g.107245481T>A | CA2679875407 | PDSS2 | c.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 |
6 | g.107245482T>G | CA2679875408 | PDSS2 | c.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 |
6 | g.107245485C>A | CA2679875409 | PDSS2 | c.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 |
6 | g.107245485C= | CA1653773658 | PDSS2 | c.702+63G= (n.702+63G=) c.567+63G= (n.567+63G=) c.294+63G= (n.294+63G=) | |
6 | g.107245485C>G | CA2679875410 | PDSS2 | c.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 |
6 | g.107245485C>T | CA145601460 | PDSS2 | c.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 |
6 | g.107245486G>A | CA145601461 | PDSS2 | c.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 |
6 | g.107245486G= | CA1653773660 | PDSS2 | c.702+62C= (n.702+62C=) c.567+62C= (n.567+62C=) c.294+62C= (n.294+62C=) | |
6 | g.107245486G>T | CA2679875411 | PDSS2 | c.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 |
6 | g.107245487T>C | CA2679875412 | PDSS2 | c.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 |
6 | g.107245489A>G | CA2679875413 | PDSS2 | c.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 |
6 | g.107245490T>A | CA2679875415 | PDSS2 | c.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 |
6 | g.107245490T>C | CA2679875414 | PDSS2 | c.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 |
6 | g.107245491T>C | CA2679875416 | PDSS2 | c.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 |
6 | g.107245492C>A | CA2578825643 | PDSS2 | c.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 |
6 | g.107245492C>G | CA2772514128 | PDSS2 | c.702+56G>C (n.702+56G>C) c.567+56G>C (n.567+56G>C) c.294+56G>C (n.294+56G>C) | |
6 | g.107245492C>T | CA2679875417 | PDSS2 | c.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 |
6 | g.107245493T>C | CA569507489 | PDSS2 | c.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 |
6 | g.107245493T>G | CA2578825644 | PDSS2 | c.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 |
6 | g.107245493T= | CA1653773663 | PDSS2 | c.702+55A= (n.702+55A=) c.567+55A= (n.567+55A=) c.294+55A= (n.294+55A=) | |
6 | g.107245494A>G | CA2679875418 | PDSS2 | c.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 |
6 | g.107245494A>T | CA2679875419 | PDSS2 | c.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 |
6 | g.107245495G>T | CA2578825645 | PDSS2 | c.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 |
6 | g.107245496T>C | CA2679875420 | PDSS2 | c.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 |
6 | g.107245497T>C | CA2679875421 | PDSS2 | c.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 |
6 | g.107245498G>T | CA2578825646 | PDSS2 | c.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 |
6 | g.107245499T>C | CA2679875422 | PDSS2 | c.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 |
6 | g.107245499_107245502delinsTACC | CA1653773666 | PDSS2 | c.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) | |
6 | g.107245500A= | CA1653773669 | PDSS2 | c.702+48T= (n.702+48T=) c.567+48T= (n.567+48T=) c.294+48T= (n.294+48T=) | |
6 | g.107245500A>G | CA2679875423 | PDSS2 | c.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 |
6 | g.107245500A>T | CA1653773670 | PDSS2 | c.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 |
6 | g.107245502_107245504del | CA3946037 | PDSS2 | c.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 |
6 | g.107245501C>A | CA1092900051 | PDSS2 | c.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 |
6 | g.107245501C= | CA1653773672 | PDSS2 | c.702+47G= (n.702+47G=) c.567+47G= (n.567+47G=) c.294+47G= (n.294+47G=) | |
6 | g.107245501C>G | CA1653773675 | PDSS2 | c.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 |
6 | g.107245501C>T | CA2679875424 | PDSS2 | c.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 |
6 | g.107245502C>A | CA2679875425 | PDSS2 | c.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 |
6 | g.107245502C>G | CA2679875426 | PDSS2 | c.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 |
6 | g.107245502C>T | CA2578825647 | PDSS2 | c.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 |
6 | g.107245503A= | CA1653773678 | PDSS2 | c.702+45T= (n.702+45T=) c.567+45T= (n.567+45T=) c.294+45T= (n.294+45T=) | |
6 | g.107245503A>G | CA2679875427 | PDSS2 | c.702+45T>C (n.702+45T>C) c.567+45T>C (n.567+45T>C) c.294+45T>C (n.294+45T>C) | dbSNP gnomAD v4 |
6 | g.107245503A>T | CA145601462 | PDSS2 | c.702+45T>A (n.702+45T>A) c.567+45T>A (n.567+45T>A) c.294+45T>A (n.294+45T>A) | dbSNP gnomAD v4 |