Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153688567_153688656del | CA2695036134 | PNCK,SLC6A8 | c.-8_82del c.-3+165_-3+254del (n.-3+165_-3+254del) n.64+165_64+254del | gnomAD v4 |
X | g.153688570_153688659del | CA2695036167 | PNCK,SLC6A8 | c.-5_85del c.-3+158_-3+247del (n.-3+158_-3+247del) n.64+158_64+247del | gnomAD v4 |
X | g.153688626_153688711delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG | CA2466435841 | PNCK,SLC6A8 | c.52_137delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG (p.Lys18=) c.-3+104_-3+189delinsCGGCCGCCGGGTGTCCCCAGGCCCACGGGGCCGTCGCCCTTGGCCGGGGCCCCGTCGGGCCCGGGCGCGATGAGGGGGCCCTTCTT (n.-3+104_-3+189delinsCGGCCGCCGGGTGTCCCCAGGCCCACGGGGCCGTCGCCCTTGGCCGGGGCCCCGTCGGGCCCGGGCGCGATGAGGGGGCCCTTCTT) n.64+104_64+189delinsCGGCCGCCGGGTGTCCCCAGGCCCACGGGGCCGTCGCCCTTGGCCGGGGCCCCGTCGGGCCCGGGCGCGATGAGGGGGCCCTTCTT | |
X | g.153688627_153688711delinsCCGTGT | CA658799891 | PNCK,SLC6A8 | c.53_137delinsCCGTGT (p.Lys18ThrfsTer?) c.-3+104_-3+188delinsACACGG (n.-3+104_-3+188delinsACACGG) n.64+104_64+188delinsACACGG | ClinVar dbSNP |
X | g.153688640_153688655del | CA2572066480 | PNCK,SLC6A8 | c.66_81del (p.Ile23ThrfsTer?) c.-3+160_-3+175del (n.-3+160_-3+175del) n.64+160_64+175del | |
X | g.153688641A>C | CA415076102 | PNCK,SLC6A8 | c.67A>C (p.Ile23Leu) c.-3+174T>G (n.-3+174T>G) n.64+174T>G | gnomAD v3 gnomAD v4 |
X | g.153688641A>G | CA415076104 | PNCK,SLC6A8 | c.67A>G (p.Ile23Val) c.-3+174T>C (n.-3+174T>C) n.64+174T>C | gnomAD v4 |
X | g.153688641A>T | CA415076106 | PNCK,SLC6A8 | c.67A>T (p.Ile23Phe) c.-3+174T>A (n.-3+174T>A) n.64+174T>A | |
X | g.153688642T>A | CA415076107 | PNCK,SLC6A8 | c.68T>A (p.Ile23Asn) c.-3+173A>T (n.-3+173A>T) n.64+173A>T | |
X | g.153688642T>C | CA415076109 | PNCK,SLC6A8 | c.68T>C (p.Ile23Thr) c.-3+173A>G (n.-3+173A>G) n.64+173A>G | gnomAD v4 |
X | g.153688642T>G | CA415076111 | PNCK,SLC6A8 | c.68T>G (p.Ile23Ser) c.-3+173A>C (n.-3+173A>C) n.64+173A>C | |
X | g.153688643C>A | CA519344418 | PNCK,SLC6A8 | c.69C>A (p.Ile23=) c.-3+172G>T (n.-3+172G>T) n.64+172G>T | gnomAD v4 |
X | g.153688643C>G | CA415076112 | PNCK,SLC6A8 | c.69C>G (p.Ile23Met) c.-3+172G>C (n.-3+172G>C) n.64+172G>C | |
X | g.153688643C>T | CA519344421 | PNCK,SLC6A8 | c.69C>T (p.Ile23=) c.-3+172G>A (n.-3+172G>A) n.64+172G>A | gnomAD v4 |
X | g.153688644G>A | CA415076115 | PNCK,SLC6A8 | c.70G>A (p.Ala24Thr) c.-3+171C>T (n.-3+171C>T) n.64+171C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.153688644G>C | CA415076119 | PNCK,SLC6A8 | c.70G>C (p.Ala24Pro) c.-3+171C>G (n.-3+171C>G) n.64+171C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153688644G= | CA2466435846 | PNCK,SLC6A8 | c.70G= (p.Ala24=) c.-3+171C= (n.-3+171C=) n.64+171C= | |
X | g.153688644G>T | CA415076117 | PNCK,SLC6A8 | c.70G>T (p.Ala24Ser) c.-3+171C>A (n.-3+171C>A) n.64+171C>A | gnomAD v4 |
X | g.153688645C>A | CA415076121 | PNCK,SLC6A8 | c.71C>A (p.Ala24Glu) c.-3+170G>T (n.-3+170G>T) n.64+170G>T | gnomAD v4 |
X | g.153688645C= | CA2466435847 | PNCK,SLC6A8 | c.71C= (p.Ala24=) c.-3+170G= (n.-3+170G=) n.64+170G= | |
X | g.153688645C>G | CA415076123 | PNCK,SLC6A8 | c.71C>G (p.Ala24Gly) c.-3+170G>C (n.-3+170G>C) n.64+170G>C | |
X | g.153688645C>T | CA415076125 | PNCK,SLC6A8 | c.71C>T (p.Ala24Val) c.-3+170G>A (n.-3+170G>A) n.64+170G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.153688646G>A | CA519344429 | PNCK,SLC6A8 | c.72G>A (p.Ala24=) c.-3+169C>T (n.-3+169C>T) n.64+169C>T | gnomAD v4 |
X | g.153688646G>C | CA519344431 | PNCK,SLC6A8 | c.72G>C (p.Ala24=) c.-3+169C>G (n.-3+169C>G) n.64+169C>G | |
X | g.153688646G= | CA2466435848 | PNCK,SLC6A8 | c.72G= (p.Ala24=) c.-3+169C= (n.-3+169C=) n.64+169C= | |
X | g.153688646G>T | CA519344428 | PNCK,SLC6A8 | c.72G>T (p.Ala24=) c.-3+169C>A (n.-3+169C>A) n.64+169C>A | ClinVar dbSNP gnomAD v4 |
X | g.153688650_153688665del | CA2695036338 | PNCK,SLC6A8 | c.76_91del (p.Gly26ArgfsTer?) c.-3+154_-3+169del (n.-3+154_-3+169del) n.64+154_64+169del | gnomAD v4 |
X | g.153688647C>A | CA415076127 | PNCK,SLC6A8 | c.73C>A (p.Pro25Thr) c.-3+168G>T (n.-3+168G>T) n.64+168G>T | gnomAD v4 |
X | g.153688647C>G | CA415076129 | PNCK,SLC6A8 | c.73C>G (p.Pro25Ala) c.-3+168G>C (n.-3+168G>C) n.64+168G>C | gnomAD v4 |
X | g.153688647C>T | CA415076130 | PNCK,SLC6A8 | c.73C>T (p.Pro25Ser) c.-3+168G>A (n.-3+168G>A) n.64+168G>A | gnomAD v4 |
X | g.153688649del | CA2695036339 | PNCK,SLC6A8 | c.75del (p.Asp28ThrfsTer?) c.-3+168del (n.-3+168del) n.64+168del | gnomAD v4 |
X | g.153688648C>A | CA415076132 | PNCK,SLC6A8 | c.74C>A (p.Pro25His) c.-3+167G>T (n.-3+167G>T) n.64+167G>T | |
X | g.153688648C= | CA2466435849 | PNCK,SLC6A8 | c.74C= (p.Pro25=) c.-3+167G= (n.-3+167G=) n.64+167G= | |
X | g.153688648C>G | CA415076134 | PNCK,SLC6A8 | c.74C>G (p.Pro25Arg) c.-3+167G>C (n.-3+167G>C) n.64+167G>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.153688648C>T | CA415076135 | PNCK,SLC6A8 | c.74C>T (p.Pro25Leu) c.-3+167G>A (n.-3+167G>A) n.64+167G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.153688649_153688658del | CA2579744091 | PNCK,SLC6A8 | c.75_84del (p.Asp28ArgfsTer?) c.-3+158_-3+167del (n.-3+158_-3+167del) n.64+158_64+167del | |
X | g.153688649C>A | CA519344434 | PNCK,SLC6A8 | c.75C>A (p.Pro25=) c.-3+166G>T (n.-3+166G>T) n.64+166G>T | gnomAD v4 |
X | g.153688649C= | CA2466435850 | PNCK,SLC6A8 | c.75C= (p.Pro25=) c.-3+166G= (n.-3+166G=) n.64+166G= | |
X | g.153688649C>G | CA519344435 | PNCK,SLC6A8 | c.75C>G (p.Pro25=) c.-3+166G>C (n.-3+166G>C) n.64+166G>C | ClinVar dbSNP gnomAD v4 |
X | g.153688649C>T | CA519344436 | PNCK,SLC6A8 | c.75C>T (p.Pro25=) c.-3+166G>A (n.-3+166G>A) n.64+166G>A | gnomAD v4 |
X | g.153688650G>A | CA415076138 | PNCK,SLC6A8 | c.76G>A (p.Gly26Arg) c.-3+165C>T (n.-3+165C>T) n.64+165C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153688650G>C | CA415076140 | PNCK,SLC6A8 | c.76G>C (p.Gly26Arg) c.-3+165C>G (n.-3+165C>G) n.64+165C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153688650G= | CA2466435851 | PNCK,SLC6A8 | c.76G= (p.Gly26=) c.-3+165C= (n.-3+165C=) n.64+165C= | |
X | g.153688650G>T | CA415076141 | PNCK,SLC6A8 | c.76G>T (p.Gly26Trp) c.-3+165C>A (n.-3+165C>A) n.64+165C>A | gnomAD v4 |
X | g.153688652del | CA2579744092 | PNCK,SLC6A8 | c.78del (p.Asp28ThrfsTer?) c.-3+165del (n.-3+165del) n.64+165del | gnomAD v4 |
X | g.153688651G>A | CA415076144 | PNCK,SLC6A8 | c.77G>A (p.Gly26Glu) c.-3+164C>T (n.-3+164C>T) n.64+164C>T | gnomAD v4 |
X | g.153688651G>C | CA415076146 | PNCK,SLC6A8 | c.77G>C (p.Gly26Ala) c.-3+164C>G (n.-3+164C>G) n.64+164C>G | gnomAD v4 |
X | g.153688651G>T | CA415076145 | PNCK,SLC6A8 | c.77G>T (p.Gly26Val) c.-3+164C>A (n.-3+164C>A) n.64+164C>A | gnomAD v4 |
X | g.153688652G>A | CA519344438 | PNCK,SLC6A8 | c.78G>A (p.Gly26=) c.-3+163C>T (n.-3+163C>T) n.64+163C>T | gnomAD v4 |
X | g.153688652G>C | CA519344439 | PNCK,SLC6A8 | c.78G>C (p.Gly26=) c.-3+163C>G (n.-3+163C>G) n.64+163C>G | gnomAD v4 |