Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7579822A>C | CA362684509 | DSP | c.3632A>C (p.Glu1211Ala) c.3582+50A>C (n.3582+50A>C) | |
6 | g.7579822A>G | CA362684510 | DSP | c.3632A>G (p.Glu1211Gly) c.3582+50A>G (n.3582+50A>G) | |
6 | g.7579822A>T | CA362684511 | DSP | c.3632A>T (p.Glu1211Val) c.3582+50A>T (n.3582+50A>T) | |
6 | g.7579823A= | CA1608614895 | DSP | c.3633A= (p.Glu1211=) c.3582+51A= (n.3582+51A=) | |
6 | g.7579823A>C | CA362684512 | DSP | c.3633A>C (p.Glu1211Asp) c.3582+51A>C (n.3582+51A>C) | ClinVar dbSNP gnomAD v4 |
6 | g.7579823A>G | CA448714350 | DSP | c.3633A>G (p.Glu1211=) c.3582+51A>G (n.3582+51A>G) | |
6 | g.7579823A>T | CA362684513 | DSP | c.3633A>T (p.Glu1211Asp) c.3582+51A>T (n.3582+51A>T) | |
6 | g.7579824A>C | CA362684516 | DSP | c.3634A>C (p.Thr1212Pro) c.3582+52A>C (n.3582+52A>C) | |
6 | g.7579824A>G | CA362684515 | DSP | c.3634A>G (p.Thr1212Ala) c.3582+52A>G (n.3582+52A>G) | gnomAD v4 |
6 | g.7579824A>T | CA362684514 | DSP | c.3634A>T (p.Thr1212Ser) c.3582+52A>T (n.3582+52A>T) | |
6 | g.7579825C>A | CA362684517 | DSP | c.3635C>A (p.Thr1212Lys) c.3582+53C>A (n.3582+53C>A) | |
6 | g.7579825C>G | CA362684518 | DSP | c.3635C>G (p.Thr1212Arg) c.3582+53C>G (n.3582+53C>G) | |
6 | g.7579825C>T | CA362684519 | DSP | c.3635C>T (p.Thr1212Ile) c.3582+53C>T (n.3582+53C>T) | |
6 | g.7579826A>C | CA448714352 | DSP | c.3636A>C (p.Thr1212=) c.3582+54A>C (n.3582+54A>C) | |
6 | g.7579826A>G | CA448714353 | DSP | c.3636A>G (p.Thr1212=) c.3582+54A>G (n.3582+54A>G) | ClinVar |
6 | g.7579826A>T | CA448714355 | DSP | c.3636A>T (p.Thr1212=) c.3582+54A>T (n.3582+54A>T) | |
6 | g.7579829_7579830del | CA2573332574 | DSP | c.3639_3640del (p.Glu1213AspfsTer2) c.3582+57_3582+58del (n.3582+57_3582+58del) | ClinVar dbSNP gnomAD v4 |
6 | g.7579827G>A | CA362684520 | DSP | c.3637G>A (p.Glu1213Lys) c.3582+55G>A (n.3582+55G>A) | |
6 | g.7579827G>C | CA362684521 | DSP | c.3637G>C (p.Glu1213Gln) c.3582+55G>C (n.3582+55G>C) | |
6 | g.7579827G>T | CA362684522 | DSP | c.3637G>T (p.Glu1213Ter) c.3582+55G>T (n.3582+55G>T) | |
6 | g.7579828A>C | CA362684523 | DSP | c.3638A>C (p.Glu1213Ala) c.3582+56A>C (n.3582+56A>C) | |
6 | g.7579828A>G | CA362684525 | DSP | c.3638A>G (p.Glu1213Gly) c.3582+56A>G (n.3582+56A>G) | |
6 | g.7579828A>T | CA362684524 | DSP | c.3638A>T (p.Glu1213Val) c.3582+56A>T (n.3582+56A>T) | |
6 | g.7579829G>A | CA448714358 | DSP | c.3639G>A (p.Glu1213=) c.3582+57G>A (n.3582+57G>A) | |
6 | g.7579829G>C | CA362684526 | DSP | c.3639G>C (p.Glu1213Asp) c.3582+57G>C (n.3582+57G>C) | |
6 | g.7579829G>T | CA362684527 | DSP | c.3639G>T (p.Glu1213Asp) c.3582+57G>T (n.3582+57G>T) | |
6 | g.7579830A= | CA1608614899 | DSP | c.3640A= (p.Ile1214=) c.3582+58A= (n.3582+58A=) | |
6 | g.7579830A>C | CA362684528 | DSP | c.3640A>C (p.Ile1214Leu) c.3582+58A>C (n.3582+58A>C) | |
6 | g.7579830A>G | CA362684529 | DSP | c.3640A>G (p.Ile1214Val) c.3582+58A>G (n.3582+58A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579830A>T | CA362684530 | DSP | c.3640A>T (p.Ile1214Phe) c.3582+58A>T (n.3582+58A>T) | |
6 | g.7579831T>A | CA362684531 | DSP | c.3641T>A (p.Ile1214Asn) c.3582+59T>A (n.3582+59T>A) | |
6 | g.7579831T>C | CA362684532 | DSP | c.3641T>C (p.Ile1214Thr) c.3582+59T>C (n.3582+59T>C) | |
6 | g.7579831T>G | CA362684533 | DSP | c.3641T>G (p.Ile1214Ser) c.3582+59T>G (n.3582+59T>G) | |
6 | g.7579832T>A | CA038569 | DSP | c.3642T>A (p.Ile1214=) c.3582+60T>A (n.3582+60T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579832T>C | CA448714360 | DSP | c.3642T>C (p.Ile1214=) c.3582+60T>C (n.3582+60T>C) | |
6 | g.7579832T>G | CA362684534 | DSP | c.3642T>G (p.Ile1214Met) c.3582+60T>G (n.3582+60T>G) | ClinVar dbSNP |
6 | g.7579832T= | CA1608614907 | DSP | c.3642T= (p.Ile1214=) c.3582+60T= (n.3582+60T=) | |
6 | g.7579833A= | CA1608614915 | DSP | c.3643A= (p.Asn1215=) c.3582+61A= (n.3582+61A=) | |
6 | g.7579833A>C | CA362684537 | DSP | c.3643A>C (p.Asn1215His) c.3582+61A>C (n.3582+61A>C) | |
6 | g.7579833A>G | CA362684536 | DSP | c.3643A>G (p.Asn1215Asp) c.3582+61A>G (n.3582+61A>G) | dbSNP gnomAD v4 |
6 | g.7579833A>T | CA362684535 | DSP | c.3643A>T (p.Asn1215Tyr) c.3582+61A>T (n.3582+61A>T) | |
6 | g.7579834A= | CA1608614924 | DSP | c.3644A= (p.Asn1215=) c.3582+62A= (n.3582+62A=) | |
6 | g.7579834A>C | CA362684538 | DSP | c.3644A>C (p.Asn1215Thr) c.3582+62A>C (n.3582+62A>C) | |
6 | g.7579834A>G | CA038586 | DSP | c.3644A>G (p.Asn1215Ser) c.3582+62A>G (n.3582+62A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579834A>T | CA362684539 | DSP | c.3644A>T (p.Asn1215Ile) c.3582+62A>T (n.3582+62A>T) | |
6 | g.7579835C>A | CA362684540 | DSP | c.3645C>A (p.Asn1215Lys) c.3582+63C>A (n.3582+63C>A) | |
6 | g.7579835C>G | CA362684541 | DSP | c.3645C>G (p.Asn1215Lys) c.3582+63C>G (n.3582+63C>G) | |
6 | g.7579835C>T | CA448714365 | DSP | c.3645C>T (p.Asn1215=) c.3582+63C>T (n.3582+63C>T) | gnomAD v4 |
6 | g.7579836A= | CA1608614932 | DSP | c.3646A= (p.Ile1216=) c.3582+64A= (n.3582+64A=) | |
6 | g.7579836A>C | CA362684542 | DSP | c.3646A>C (p.Ile1216Leu) c.3582+64A>C (n.3582+64A>C) |