Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.87508407A>C | CA377782553 | MINPP1 | c.709A>C (p.Thr237Pro) c.106A>C (p.Thr36Pro) n.2833A>C | |
10 | g.87508407A>G | CA377782554 | MINPP1 | c.709A>G (p.Thr237Ala) c.106A>G (p.Thr36Ala) n.2833A>G | |
10 | g.87508407A>T | CA377782555 | MINPP1 | c.709A>T (p.Thr237Ser) c.106A>T (p.Thr36Ser) n.2833A>T | |
10 | g.87508408C>A | CA377782556 | MINPP1 | c.710C>A (p.Thr237Asn) c.107C>A (p.Thr36Asn) n.2834C>A | |
10 | g.87508408C= | CA1925983101 | MINPP1 | c.710C= (p.Thr237=) c.107C= (p.Thr36=) n.2834C= | |
10 | g.87508408C>G | CA377782557 | MINPP1 | c.710C>G (p.Thr237Ser) c.107C>G (p.Thr36Ser) n.2834C>G | |
10 | g.87508408C>T | CA377782558 | MINPP1 | c.710C>T (p.Thr237Ile) c.107C>T (p.Thr36Ile) n.2834C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.87508409T>A | CA470851367 | MINPP1 | c.711T>A (p.Thr237=) c.108T>A (p.Thr36=) n.2835T>A | |
10 | g.87508409T>C | CA5589086 | MINPP1 | c.711T>C (p.Thr237=) c.108T>C (p.Thr36=) n.2835T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87508409T>G | CA470851370 | MINPP1 | c.711T>G (p.Thr237=) c.108T>G (p.Thr36=) n.2835T>G | gnomAD v4 |
10 | g.87508409T= | CA1925983102 | MINPP1 | c.711T= (p.Thr237=) c.108T= (p.Thr36=) n.2835T= | |
10 | g.87508410G>A | CA377782559 | MINPP1 | c.712G>A (p.Glu238Lys) c.109G>A (p.Glu37Lys) n.2836G>A | |
10 | g.87508410G>C | CA377782560 | MINPP1 | c.712G>C (p.Glu238Gln) c.109G>C (p.Glu37Gln) n.2836G>C | |
10 | g.87508410G>T | CA377782561 | MINPP1 | c.712G>T (p.Glu238Ter) c.109G>T (p.Glu37Ter) n.2836G>T | |
10 | g.87508411A= | CA1925983103 | MINPP1 | c.713A= (p.Glu238=) c.110A= (p.Glu37=) n.2837A= | |
10 | g.87508411A>C | CA377782562 | MINPP1 | c.713A>C (p.Glu238Ala) c.110A>C (p.Glu37Ala) n.2837A>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.87508411A>G | CA377782563 | MINPP1 | c.713A>G (p.Glu238Gly) c.110A>G (p.Glu37Gly) n.2837A>G | |
10 | g.87508411A>T | CA377782564 | MINPP1 | c.713A>T (p.Glu238Val) c.110A>T (p.Glu37Val) n.2837A>T | |
10 | g.87508412A= | CA1925983104 | MINPP1 | c.714A= (p.Glu238=) c.111A= (p.Glu37=) n.2838A= | |
10 | g.87508412A>C | CA377782565 | MINPP1 | c.714A>C (p.Glu238Asp) c.111A>C (p.Glu37Asp) n.2838A>C | |
10 | g.87508412A>G | CA470851377 | MINPP1 | c.714A>G (p.Glu238=) c.111A>G (p.Glu37=) n.2838A>G | dbSNP |
10 | g.87508412A>T | CA377782566 | MINPP1 | c.714A>T (p.Glu238Asp) c.111A>T (p.Glu37Asp) n.2838A>T | |
10 | g.87508413G>A | CA377782567 | MINPP1 | c.715G>A (p.Val239Ile) c.112G>A (p.Val38Ile) n.2839G>A | |
10 | g.87508413G>C | CA377782568 | MINPP1 | c.715G>C (p.Val239Leu) c.112G>C (p.Val38Leu) n.2839G>C | |
10 | g.87508413G>T | CA377782569 | MINPP1 | c.715G>T (p.Val239Leu) c.112G>T (p.Val38Leu) n.2839G>T | |
10 | g.87508414T>A | CA377782570 | MINPP1 | c.716T>A (p.Val239Glu) c.113T>A (p.Val38Glu) n.2840T>A | |
10 | g.87508414T>C | CA377782571 | MINPP1 | c.716T>C (p.Val239Ala) c.113T>C (p.Val38Ala) n.2840T>C | gnomAD v4 |
10 | g.87508414T>G | CA377782572 | MINPP1 | c.716T>G (p.Val239Gly) c.113T>G (p.Val38Gly) n.2840T>G | |
10 | g.87508415A>C | CA470851387 | MINPP1 | c.717A>C (p.Val239=) c.114A>C (p.Val38=) n.2841A>C | |
10 | g.87508415A>G | CA470851388 | MINPP1 | c.717A>G (p.Val239=) c.114A>G (p.Val38=) n.2841A>G | gnomAD v4 |
10 | g.87508415A>T | CA470851389 | MINPP1 | c.717A>T (p.Val239=) c.114A>T (p.Val38=) n.2841A>T | |
10 | g.87508416G>A | CA377782573 | MINPP1 | c.718G>A (p.Glu240Lys) c.115G>A (p.Glu39Lys) n.2842G>A | |
10 | g.87508416G>C | CA377782574 | MINPP1 | c.718G>C (p.Glu240Gln) c.115G>C (p.Glu39Gln) n.2842G>C | |
10 | g.87508416G>T | CA377782575 | MINPP1 | c.718G>T (p.Glu240Ter) c.115G>T (p.Glu39Ter) n.2842G>T | gnomAD v4 |
10 | g.87508417A>C | CA377782576 | MINPP1 | c.719A>C (p.Glu240Ala) c.116A>C (p.Glu39Ala) n.2843A>C | |
10 | g.87508417A>G | CA377782577 | MINPP1 | c.719A>G (p.Glu240Gly) c.116A>G (p.Glu39Gly) n.2843A>G | |
10 | g.87508417A>T | CA377782578 | MINPP1 | c.719A>T (p.Glu240Val) c.116A>T (p.Glu39Val) n.2843A>T | |
10 | g.87508423dup | CA2610032588 | MINPP1 | c.725dup (p.Asn242LysfsTer?) c.122dup (p.Asn41LysfsTer?) n.2849dup | gnomAD v4 |
10 | g.87508423del | CA2610032589 | MINPP1 | c.725del (p.Asn242MetfsTer21) c.122del (p.Asn41MetfsTer21) n.2849del | gnomAD v4 |
10 | g.87508418A>C | CA377782579 | MINPP1 | c.720A>C (p.Glu240Asp) c.117A>C (p.Glu39Asp) n.2844A>C | |
10 | g.87508418A>G | CA470851392 | MINPP1 | c.720A>G (p.Glu240=) c.117A>G (p.Glu39=) n.2844A>G | |
10 | g.87508418A>T | CA377782580 | MINPP1 | c.720A>T (p.Glu240Asp) c.117A>T (p.Glu39Asp) n.2844A>T | |
10 | g.87508419A= | CA1925983105 | MINPP1 | c.721A= (p.Lys241=) c.118A= (p.Lys40=) n.2845A= | |
10 | g.87508419A>C | CA377782581 | MINPP1 | c.721A>C (p.Lys241Gln) c.118A>C (p.Lys40Gln) n.2845A>C | |
10 | g.87508419A>G | CA5589087 | MINPP1 | c.721A>G (p.Lys241Glu) c.118A>G (p.Lys40Glu) n.2845A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87508419A>T | CA377782582 | MINPP1 | c.721A>T (p.Lys241Ter) c.118A>T (p.Lys40Ter) n.2845A>T | |
10 | g.87508420A>C | CA377782583 | MINPP1 | c.722A>C (p.Lys241Thr) c.119A>C (p.Lys40Thr) n.2846A>C | |
10 | g.87508420A>G | CA377782584 | MINPP1 | c.722A>G (p.Lys241Arg) c.119A>G (p.Lys40Arg) n.2846A>G | |
10 | g.87508420A>T | CA377782585 | MINPP1 | c.722A>T (p.Lys241Ile) c.119A>T (p.Lys40Ile) n.2846A>T | |
10 | g.87508421A= | CA1925983106 | MINPP1 | c.723A= (p.Lys241=) c.120A= (p.Lys40=) n.2847A= |