Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.128254377C= | CA1742271356 | LEP | c.145-27C= (n.145-27C=) c.145-30C= (n.145-30C=) | |
7 | g.128254377C>G | CA578154137 | LEP | c.145-27C>G (n.145-27C>G) c.145-30C>G (n.145-30C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254378T>C | CA578154138 | LEP | c.145-26T>C (n.145-26T>C) c.145-29T>C (n.145-29T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254378T= | CA1742271360 | LEP | c.145-26T= (n.145-26T=) c.145-29T= (n.145-29T=) | |
7 | g.128254379T>C | CA578154139 | LEP | c.145-25T>C (n.145-25T>C) c.145-28T>C (n.145-28T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254379T= | CA1742271365 | LEP | c.145-25T= (n.145-25T=) c.145-28T= (n.145-28T=) | |
7 | g.128254379_128254425dup | CA2684762446 | LEP | c.145-25_166dup c.145-28_163dup | gnomAD v4 |
7 | g.128254380G>T | CA2684762447 | LEP | c.145-24G>T (n.145-24G>T) c.145-27G>T (n.145-27G>T) | gnomAD v4 |
7 | g.128254381T>C | CA4469660 | LEP | c.145-23T>C (n.145-23T>C) c.145-26T>C (n.145-26T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254381T= | CA1742271368 | LEP | c.145-23T= (n.145-23T=) c.145-26T= (n.145-26T=) | |
7 | g.128254383C>A | CA4469661 | LEP | c.145-21C>A (n.145-21C>A) c.145-24C>A (n.145-24C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254383C= | CA1742271370 | LEP | c.145-21C= (n.145-21C=) c.145-24C= (n.145-24C=) | |
7 | g.128254383C>T | CA2684762448 | LEP | c.145-21C>T (n.145-21C>T) c.145-24C>T (n.145-24C>T) | gnomAD v4 |
7 | g.128254384T>C | CA833095258 | LEP | c.145-20T>C (n.145-20T>C) c.145-23T>C (n.145-23T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254384T= | CA1742271373 | LEP | c.145-20T= (n.145-20T=) c.145-23T= (n.145-23T=) | |
7 | g.128254385C= | CA1742271381 | LEP | c.145-19C= (n.145-19C=) c.145-22C= (n.145-22C=) | |
7 | g.128254385C>T | CA578154140 | LEP | c.145-19C>T (n.145-19C>T) c.145-22C>T (n.145-22C>T) | dbSNP gnomAD v2 |
7 | g.128254386C= | CA1742271382 | LEP | c.145-18C= (n.145-18C=) c.145-21C= (n.145-21C=) | |
7 | g.128254386C>T | CA578154141 | LEP | c.145-18C>T (n.145-18C>T) c.145-21C>T (n.145-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254387C= | CA1742271383 | LEP | c.145-17C= (n.145-17C=) c.145-20C= (n.145-20C=) | |
7 | g.128254387C>T | CA1742271384 | LEP | c.145-17C>T (n.145-17C>T) c.145-20C>T (n.145-20C>T) | dbSNP gnomAD v4 |
7 | g.128254387_128254388delinsCT | CA1742271385 | LEP | c.145-17_145-16delinsCT (n.145-17_145-16delinsCT) c.145-20_145-19delinsCT (n.145-20_145-19delinsCT) | |
7 | g.128254388del | CA1742271387 | LEP | c.145-16del (n.145-16del) c.145-19del (n.145-19del) | dbSNP |
7 | g.128254389C>T | CA2684762449 | LEP | c.145-15C>T (n.145-15C>T) c.145-18C>T (n.145-18C>T) | gnomAD v4 |
7 | g.128254390T>C | CA2684762450 | LEP | c.145-14T>C (n.145-14T>C) c.145-17T>C (n.145-17T>C) | gnomAD v4 |
7 | g.128254392C>G | CA2684762451 | LEP | c.145-12C>G (n.145-12C>G) c.145-15C>G (n.145-15C>G) | gnomAD v4 |
7 | g.128254395C= | CA1742271388 | LEP | c.145-9C= (n.145-9C=) c.145-12C= (n.145-12C=) | |
7 | g.128254395C>G | CA578154142 | LEP | c.145-9C>G (n.145-9C>G) c.145-12C>G (n.145-12C>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254395C>T | CA2684762452 | LEP | c.145-9C>T (n.145-9C>T) c.145-12C>T (n.145-12C>T) | gnomAD v4 |
7 | g.128254396C>A | CA2684762453 | LEP | c.145-8C>A (n.145-8C>A) c.145-11C>A (n.145-11C>A) | gnomAD v4 |
7 | g.128254396C>T | CA2777834950 | LEP | c.145-8C>T (n.145-8C>T) c.145-11C>T (n.145-11C>T) | |
7 | g.128254398G>A | CA2684762454 | LEP | c.145-6G>A (n.145-6G>A) c.145-9G>A (n.145-9G>A) | gnomAD v4 |
7 | g.128254398G= | CA1742271390 | LEP | c.145-6G= (n.145-6G=) c.145-9G= (n.145-9G=) | |
7 | g.128254398G>T | CA166745167 | LEP | c.145-6G>T (n.145-6G>T) c.145-9G>T (n.145-9G>T) | dbSNP |
7 | g.128254399C>G | CA2684762455 | LEP | c.145-5C>G (n.145-5C>G) c.145-8C>G (n.145-8C>G) | gnomAD v4 |
7 | g.128254400A>G | CA2684762456 | LEP | c.145-4A>G (n.145-4A>G) c.145-7A>G (n.145-7A>G) | gnomAD v4 |
7 | g.128254401T>C | CA578154143 | LEP | c.145-3T>C (n.145-3T>C) c.145-6T>C (n.145-6T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254401T>G | CA2684762457 | LEP | c.145-3T>G (n.145-3T>G) c.145-6T>G (n.145-6T>G) | gnomAD v4 |
7 | g.128254401T= | CA1742271394 | LEP | c.145-3T= (n.145-3T=) c.145-6T= (n.145-6T=) | |
7 | g.128254402A= | CA1742271402 | LEP | c.145-2A= (n.145-2A=) c.145-5A= (n.145-5A=) | |
7 | g.128254402A>C | CA369443562 | LEP | c.145-2A>C (n.145-2A>C) c.145-5A>C (n.145-5A>C) | |
7 | g.128254402A>G | CA4469662 | LEP | c.145-2A>G (n.145-2A>G) c.145-5A>G (n.145-5A>G) | dbSNP ExAC |
7 | g.128254402A>T | CA369443561 | LEP | c.145-2A>T (n.145-2A>T) c.145-5A>T (n.145-5A>T) | |
7 | g.128254403G>A | CA369443563 | LEP | c.145-1G>A (n.145-1G>A) c.145-4G>A (n.145-4G>A) | |
7 | g.128254403G>C | CA369443564 | LEP | c.145-1G>C (n.145-1G>C) c.145-4G>C (n.145-4G>C) | |
7 | g.128254403G>T | CA369443565 | LEP | c.145-1G>T (n.145-1G>T) c.145-4G>T (n.145-4G>T) | gnomAD v4 |
7 | g.128254404C>A | CA369443566 | LEP | c.145C>A (p.Gln49Lys) c.145-3C>A (n.145-3C>A) | |
7 | g.128254404C>G | CA369443567 | LEP | c.145C>G (p.Gln49Glu) c.145-3C>G (n.145-3C>G) | |
7 | g.128254404C>T | CA369443568 | LEP | c.145C>T (p.Gln49Ter) c.145-3C>T (n.145-3C>T) | |
7 | g.128254409_128254412del | CA2684762458 | LEP | c.150_153del (p.Val51ProfsTer19) c.147_150del | gnomAD v4 |
7 | g.128254405A= | CA1742271405 | LEP | c.146A= (p.Gln49=) c.145-2A= (n.145-2A=) | |
7 | g.128254405A>C | CA369443569 | LEP | c.146A>C (p.Gln49Pro) c.145-2A>C (n.145-2A>C) | |
7 | g.128254405A>G | CA369443570 | LEP | c.146A>G (p.Gln49Arg) c.145-2A>G (n.145-2A>G) | dbSNP |
7 | g.128254405A>T | CA369443571 | LEP | c.146A>T (p.Gln49Leu) c.145-2A>T (n.145-2A>T) | |
7 | g.128254406G>A | CA457856595 | LEP | c.147G>A (p.Gln49=) c.145-1G>A (n.145-1G>A) | |
7 | g.128254406G>C | CA369443572 | LEP | c.147G>C (p.Gln49His) c.145-1G>C (n.145-1G>C) | |
7 | g.128254406G= | CA1742271406 | LEP | c.147G= (p.Gln49=) c.145-1G= (n.145-1G=) | |
7 | g.128254406G>T | CA369443573 | LEP | c.147G>T (p.Gln49His) c.145-1G>T (n.145-1G>T) | dbSNP |
7 | g.128254407T>A | CA369443576 | LEP | c.148T>A (p.Ser50Thr) c.145T>A (p.Ser49Thr) | COSMIC |
7 | g.128254407T>C | CA369443575 | LEP | c.148T>C (p.Ser50Pro) c.145T>C (p.Ser49Pro) | |
7 | g.128254407T>G | CA369443574 | LEP | c.148T>G (p.Ser50Ala) c.145T>G (p.Ser49Ala) | |
7 | g.128254408C>A | CA369443577 | LEP | c.149C>A (p.Ser50Ter) c.146C>A (p.Ser49Ter) | |
7 | g.128254408C>G | CA369443579 | LEP | c.149C>G (p.Ser50Ter) c.146C>G (p.Ser49Ter) | |
7 | g.128254408C>T | CA369443578 | LEP | c.149C>T (p.Ser50Leu) c.146C>T (p.Ser49Leu) | |
7 | g.128254409A>C | CA457856602 | LEP | c.150A>C (p.Ser50=) c.147A>C (p.Ser49=) | |
7 | g.128254409A>G | CA457856603 | LEP | c.150A>G (p.Ser50=) c.147A>G (p.Ser49=) | |
7 | g.128254409A>T | CA457856605 | LEP | c.150A>T (p.Ser50=) c.147A>T (p.Ser49=) | gnomAD v4 |
7 | g.128254410G>A | CA369443580 | LEP | c.151G>A (p.Val51Ile) c.148G>A (p.Val50Ile) | dbSNP gnomAD v4 |
7 | g.128254410G>C | CA369443581 | LEP | c.151G>C (p.Val51Leu) c.148G>C (p.Val50Leu) | |
7 | g.128254410G= | CA1742271409 | LEP | c.151G= (p.Val51=) c.148G= (p.Val50=) | |
7 | g.128254410G>T | CA369443582 | LEP | c.151G>T (p.Val51Phe) c.148G>T (p.Val50Phe) | |
7 | g.128254411T>A | CA369443583 | LEP | c.152T>A (p.Val51Asp) c.149T>A (p.Val50Asp) | |
7 | g.128254411T>C | CA369443584 | LEP | c.152T>C (p.Val51Ala) c.149T>C (p.Val50Ala) | gnomAD v4 |
7 | g.128254411T>G | CA369443585 | LEP | c.152T>G (p.Val51Gly) c.149T>G (p.Val50Gly) | |
7 | g.128254412C>A | CA457856611 | LEP | c.153C>A (p.Val51=) c.150C>A (p.Val50=) | |
7 | g.128254412C>G | CA457856610 | LEP | c.153C>G (p.Val51=) c.150C>G (p.Val50=) | |
7 | g.128254412C>T | CA457856608 | LEP | c.153C>T (p.Val51=) c.150C>T (p.Val50=) | |
7 | g.128254413T>A | CA369443588 | LEP | c.154T>A (p.Ser52Thr) c.151T>A (p.Ser51Thr) | |
7 | g.128254413T>C | CA369443587 | LEP | c.154T>C (p.Ser52Pro) c.151T>C (p.Ser51Pro) | |
7 | g.128254413T>G | CA369443586 | LEP | c.154T>G (p.Ser52Ala) c.151T>G (p.Ser51Ala) | |
7 | g.128254413_128254414delinsTC | CA1742271413 | LEP | c.154_155delinsTC (p.Ser52=) c.151_152delinsTC (p.Ser51=) | |
7 | g.128254414C>A | CA369443589 | LEP | c.155C>A (p.Ser52Tyr) c.152C>A (p.Ser51Tyr) | |
7 | g.128254414C= | CA1742271421 | LEP | c.155C= (p.Ser52=) c.152C= (p.Ser51=) | |
7 | g.128254414C>G | CA369443590 | LEP | c.155C>G (p.Ser52Cys) c.152C>G (p.Ser51Cys) | |
7 | g.128254414C>T | CA4469663 | LEP | c.155C>T (p.Ser52Phe) c.152C>T (p.Ser51Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254415del | CA833095297 | LEP | c.156del (p.Ser53ProfsTer18) c.153del (p.Ser52ProfsTer18) | dbSNP |
7 | g.128254415C>A | CA457856617 | LEP | c.156C>A (p.Ser52=) c.153C>A (p.Ser51=) | |
7 | g.128254415C= | CA1742271432 | LEP | c.156C= (p.Ser52=) c.153C= (p.Ser51=) | |
7 | g.128254415C>G | CA457856618 | LEP | c.156C>G (p.Ser52=) c.153C>G (p.Ser51=) | |
7 | g.128254415C>T | CA457856619 | LEP | c.156C>T (p.Ser52=) c.153C>T (p.Ser51=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254416T>A | CA369443591 | LEP | c.157T>A (p.Ser53Thr) c.154T>A (p.Ser52Thr) | |
7 | g.128254416T>C | CA369443592 | LEP | c.157T>C (p.Ser53Pro) c.154T>C (p.Ser52Pro) | |
7 | g.128254416T>G | CA369443593 | LEP | c.157T>G (p.Ser53Ala) c.154T>G (p.Ser52Ala) | |
7 | g.128254417C>A | CA369443594 | LEP | c.158C>A (p.Ser53Tyr) c.155C>A (p.Ser52Tyr) | |
7 | g.128254417C>G | CA369443596 | LEP | c.158C>G (p.Ser53Cys) c.155C>G (p.Ser52Cys) | |
7 | g.128254417C>T | CA369443595 | LEP | c.158C>T (p.Ser53Phe) c.155C>T (p.Ser52Phe) | |
7 | g.128254418C>A | CA457856624 | LEP | c.159C>A (p.Ser53=) c.156C>A (p.Ser52=) | |
7 | g.128254418C>G | CA457856627 | LEP | c.159C>G (p.Ser53=) c.156C>G (p.Ser52=) | |
7 | g.128254418C>T | CA457856625 | LEP | c.159C>T (p.Ser53=) c.156C>T (p.Ser52=) | |
7 | g.128254419A>C | CA369443597 | LEP | c.160A>C (p.Lys54Gln) c.157A>C (p.Lys53Gln) | |
7 | g.128254419A>G | CA369443598 | LEP | c.160A>G (p.Lys54Glu) c.157A>G (p.Lys53Glu) | |
7 | g.128254419A>T | CA369443599 | LEP | c.160A>T (p.Lys54Ter) c.157A>T (p.Lys53Ter) | |
7 | g.128254420A>C | CA369443600 | LEP | c.161A>C (p.Lys54Thr) c.158A>C (p.Lys53Thr) | |
7 | g.128254420A>G | CA369443601 | LEP | c.161A>G (p.Lys54Arg) c.158A>G (p.Lys53Arg) | gnomAD v4 |
7 | g.128254420A>T | CA369443602 | LEP | c.161A>T (p.Lys54Ile) c.158A>T (p.Lys53Ile) | |
7 | g.128254421A>C | CA369443603 | LEP | c.162A>C (p.Lys54Asn) c.159A>C (p.Lys53Asn) | |
7 | g.128254421A>G | CA457856628 | LEP | c.162A>G (p.Lys54=) c.159A>G (p.Lys53=) | |
7 | g.128254421A>T | CA369443604 | LEP | c.162A>T (p.Lys54Asn) c.159A>T (p.Lys53Asn) | |
7 | g.128254422C>A | CA4469664 | LEP | c.163C>A (p.Gln55Lys) c.160C>A (p.Gln54Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254422C= | CA1742271437 | LEP | c.163C= (p.Gln55=) c.160C= (p.Gln54=) | |
7 | g.128254422C>G | CA369443605 | LEP | c.163C>G (p.Gln55Glu) c.160C>G (p.Gln54Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254422C>T | CA369443606 | LEP | c.163C>T (p.Gln55Ter) c.160C>T (p.Gln54Ter) | gnomAD v4 |
7 | g.128254423A>C | CA369443607 | LEP | c.164A>C (p.Gln55Pro) c.161A>C (p.Gln54Pro) | |
7 | g.128254423A>G | CA369443609 | LEP | c.164A>G (p.Gln55Arg) c.161A>G (p.Gln54Arg) | |
7 | g.128254423A>T | CA369443608 | LEP | c.164A>T (p.Gln55Leu) c.161A>T (p.Gln54Leu) | |
7 | g.128254424G>A | CA4469665 | LEP | c.165G>A (p.Gln55=) c.162G>A (p.Gln54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.128254424G>C | CA369443610 | LEP | c.165G>C (p.Gln55His) c.162G>C (p.Gln54His) | |
7 | g.128254424G= | CA1742271442 | LEP | c.165G= (p.Gln55=) c.162G= (p.Gln54=) | |
7 | g.128254424G>T | CA369443611 | LEP | c.165G>T (p.Gln55His) c.162G>T (p.Gln54His) | gnomAD v4 |
7 | g.128254425A>C | CA369443612 | LEP | c.166A>C (p.Lys56Gln) c.163A>C (p.Lys55Gln) | |
7 | g.128254425A>G | CA369443613 | LEP | c.166A>G (p.Lys56Glu) c.163A>G (p.Lys55Glu) | |
7 | g.128254425A>T | CA369443614 | LEP | c.166A>T (p.Lys56Ter) c.163A>T (p.Lys55Ter) | |
7 | g.128254426A>C | CA369443615 | LEP | c.167A>C (p.Lys56Thr) c.164A>C (p.Lys55Thr) | |
7 | g.128254426A>G | CA369443616 | LEP | c.167A>G (p.Lys56Arg) c.164A>G (p.Lys55Arg) | |
7 | g.128254426A>T | CA369443617 | LEP | c.167A>T (p.Lys56Ile) c.164A>T (p.Lys55Ile) | |
7 | g.128254427A>C | CA369443618 | LEP | c.168A>C (p.Lys56Asn) c.165A>C (p.Lys55Asn) | |
7 | g.128254427A>G | CA457856633 | LEP | c.168A>G (p.Lys56=) c.165A>G (p.Lys55=) | dbSNP |
7 | g.128254427A>T | CA369443619 | LEP | c.168A>T (p.Lys56Asn) c.165A>T (p.Lys55Asn) | |
7 | g.128254428G>A | CA369443622 | LEP | c.169G>A (p.Val57Ile) c.166G>A (p.Val56Ile) | |
7 | g.128254428G>C | CA369443621 | LEP | c.169G>C (p.Val57Leu) c.166G>C (p.Val56Leu) | |
7 | g.128254428G>T | CA369443620 | LEP | c.169G>T (p.Val57Phe) c.166G>T (p.Val56Phe) | |
7 | g.128254429T>A | CA369443623 | LEP | c.170T>A (p.Val57Asp) c.167T>A (p.Val56Asp) | |
7 | g.128254429T>C | CA369443624 | LEP | c.170T>C (p.Val57Ala) c.167T>C (p.Val56Ala) | |
7 | g.128254429T>G | CA369443625 | LEP | c.170T>G (p.Val57Gly) c.167T>G (p.Val56Gly) | |
7 | g.128254430C>A | CA457856639 | LEP | c.171C>A (p.Val57=) c.168C>A (p.Val56=) | |
7 | g.128254430C= | CA1742271446 | LEP | c.171C= (p.Val57=) c.168C= (p.Val56=) | |
7 | g.128254430C>G | CA457856640 | LEP | c.171C>G (p.Val57=) c.168C>G (p.Val56=) | gnomAD v4 |
7 | g.128254430C>T | CA4469666 | LEP | c.171C>T (p.Val57=) c.168C>T (p.Val56=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254431A>C | CA369443626 | LEP | c.172A>C (p.Thr58Pro) c.169A>C (p.Thr57Pro) | |
7 | g.128254431A>G | CA369443627 | LEP | c.172A>G (p.Thr58Ala) c.169A>G (p.Thr57Ala) | COSMIC |
7 | g.128254431A>T | CA369443628 | LEP | c.172A>T (p.Thr58Ser) c.169A>T (p.Thr57Ser) | |
7 | g.128254432C>A | CA369443629 | LEP | c.173C>A (p.Thr58Asn) c.170C>A (p.Thr57Asn) | |
7 | g.128254432C= | CA1742271451 | LEP | c.173C= (p.Thr58=) c.170C= (p.Thr57=) | |
7 | g.128254432C>G | CA369443630 | LEP | c.173C>G (p.Thr58Ser) c.170C>G (p.Thr57Ser) | dbSNP |
7 | g.128254432C>T | CA369443631 | LEP | c.173C>T (p.Thr58Ile) c.170C>T (p.Thr57Ile) | |
7 | g.128254433C>A | CA457856646 | LEP | c.174C>A (p.Thr58=) c.171C>A (p.Thr57=) | |
7 | g.128254433C= | CA1742271456 | LEP | c.174C= (p.Thr58=) c.171C= (p.Thr57=) | |
7 | g.128254433C>G | CA4469667 | LEP | c.174C>G (p.Thr58=) c.171C>G (p.Thr57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254433C>T | CA4469668 | LEP | c.174C>T (p.Thr58=) c.171C>T (p.Thr57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254434G>A | CA166745178 | LEP | c.175G>A (p.Gly59Ser) c.172G>A (p.Gly58Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254434G>C | CA369443633 | LEP | c.175G>C (p.Gly59Arg) c.172G>C (p.Gly58Arg) | |
7 | g.128254434G= | CA1742271474 | LEP | c.175G= (p.Gly59=) c.172G= (p.Gly58=) | |
7 | g.128254434G>T | CA369443632 | LEP | c.175G>T (p.Gly59Cys) c.172G>T (p.Gly58Cys) | |
7 | g.128254435G>A | CA369443635 | LEP | c.176G>A (p.Gly59Asp) c.173G>A (p.Gly58Asp) | |
7 | g.128254435G>C | CA369443634 | LEP | c.176G>C (p.Gly59Ala) c.173G>C (p.Gly58Ala) | |
7 | g.128254435G>T | CA369443636 | LEP | c.176G>T (p.Gly59Val) c.173G>T (p.Gly58Val) | |
7 | g.128254436T>A | CA457856648 | LEP | c.177T>A (p.Gly59=) c.174T>A (p.Gly58=) | |
7 | g.128254436T>C | CA457856649 | LEP | c.177T>C (p.Gly59=) c.174T>C (p.Gly58=) | |
7 | g.128254436T>G | CA457856650 | LEP | c.177T>G (p.Gly59=) c.174T>G (p.Gly58=) | |
7 | g.128254437T>A | CA369443637 | LEP | c.178T>A (p.Leu60Met) c.175T>A (p.Leu59Met) | |
7 | g.128254437T>C | CA457856653 | LEP | c.178T>C (p.Leu60=) c.175T>C (p.Leu59=) | |
7 | g.128254437T>G | CA369443638 | LEP | c.178T>G (p.Leu60Val) c.175T>G (p.Leu59Val) | gnomAD v4 |
7 | g.128254438T>A | CA369443639 | LEP | c.179T>A (p.Leu60Ter) c.176T>A (p.Leu59Ter) | |
7 | g.128254438T>C | CA369443640 | LEP | c.179T>C (p.Leu60Ser) c.176T>C (p.Leu59Ser) | |
7 | g.128254438T>G | CA369443641 | LEP | c.179T>G (p.Leu60Trp) c.176T>G (p.Leu59Trp) | gnomAD v4 |
7 | g.128254439G>A | CA457856657 | LEP | c.180G>A (p.Leu60=) c.177G>A (p.Leu59=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254439G>C | CA369443642 | LEP | c.180G>C (p.Leu60Phe) c.177G>C (p.Leu59Phe) | |
7 | g.128254439G= | CA1742271479 | LEP | c.180G= (p.Leu60=) c.177G= (p.Leu59=) | |
7 | g.128254439G>T | CA369443643 | LEP | c.180G>T (p.Leu60Phe) c.177G>T (p.Leu59Phe) | |
7 | g.128254440G>A | CA10623192 | LEP | c.181G>A (p.Asp61Asn) c.178G>A (p.Asp60Asn) | ClinVar dbSNP |
7 | g.128254440G>C | CA369443644 | LEP | c.181G>C (p.Asp61His) c.178G>C (p.Asp60His) | |
7 | g.128254440G= | CA1742271484 | LEP | c.181G= (p.Asp61=) c.178G= (p.Asp60=) | |
7 | g.128254440G>T | CA369443645 | LEP | c.181G>T (p.Asp61Tyr) c.178G>T (p.Asp60Tyr) | |
7 | g.128254441A>C | CA369443646 | LEP | c.182A>C (p.Asp61Ala) c.179A>C (p.Asp60Ala) | |
7 | g.128254441A>G | CA369443647 | LEP | c.182A>G (p.Asp61Gly) c.179A>G (p.Asp60Gly) | |
7 | g.128254441A>T | CA369443648 | LEP | c.182A>T (p.Asp61Val) c.179A>T (p.Asp60Val) | |
7 | g.128254442C>A | CA369443649 | LEP | c.183C>A (p.Asp61Glu) c.180C>A (p.Asp60Glu) | |
7 | g.128254442C>G | CA369443650 | LEP | c.183C>G (p.Asp61Glu) c.180C>G (p.Asp60Glu) | |
7 | g.128254442C>T | CA457856661 | LEP | c.183C>T (p.Asp61=) c.180C>T (p.Asp60=) | |
7 | g.128254443T>A | CA369443651 | LEP | c.184T>A (p.Phe62Ile) c.181T>A (p.Phe61Ile) | |
7 | g.128254443T>C | CA369443652 | LEP | c.184T>C (p.Phe62Leu) c.181T>C (p.Phe61Leu) | |
7 | g.128254443T>G | CA369443653 | LEP | c.184T>G (p.Phe62Val) c.181T>G (p.Phe61Val) | |
7 | g.128254444T>A | CA369443654 | LEP | c.185T>A (p.Phe62Tyr) c.182T>A (p.Phe61Tyr) | |
7 | g.128254444T>C | CA369443655 | LEP | c.185T>C (p.Phe62Ser) c.182T>C (p.Phe61Ser) | |
7 | g.128254444T>G | CA369443656 | LEP | c.185T>G (p.Phe62Cys) c.182T>G (p.Phe61Cys) | |
7 | g.128254445C>A | CA369443657 | LEP | c.186C>A (p.Phe62Leu) c.183C>A (p.Phe61Leu) | |
7 | g.128254445C>G | CA369443658 | LEP | c.186C>G (p.Phe62Leu) c.183C>G (p.Phe61Leu) | |
7 | g.128254445C>T | CA457856666 | LEP | c.186C>T (p.Phe62=) c.183C>T (p.Phe61=) | |
7 | g.128254446A= | CA1742271488 | LEP | c.187A= (p.Ile63=) c.184A= (p.Ile62=) | |
7 | g.128254446A>C | CA4469669 | LEP | c.187A>C (p.Ile63Leu) c.184A>C (p.Ile62Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254446A>G | CA369443659 | LEP | c.187A>G (p.Ile63Val) c.184A>G (p.Ile62Val) | |
7 | g.128254446A>T | CA369443660 | LEP | c.187A>T (p.Ile63Phe) c.184A>T (p.Ile62Phe) | |
7 | g.128254447T>A | CA369443662 | LEP | c.188T>A (p.Ile63Asn) c.185T>A (p.Ile62Asn) | |
7 | g.128254447T>C | CA369443663 | LEP | c.188T>C (p.Ile63Thr) c.185T>C (p.Ile62Thr) | |
7 | g.128254447T>G | CA369443661 | LEP | c.188T>G (p.Ile63Ser) c.185T>G (p.Ile62Ser) | |
7 | g.128254448T>A | CA457856672 | LEP | c.189T>A (p.Ile63=) c.186T>A (p.Ile62=) | |
7 | g.128254448T>C | CA457856673 | LEP | c.189T>C (p.Ile63=) c.186T>C (p.Ile62=) | |
7 | g.128254448T>G | CA369443664 | LEP | c.189T>G (p.Ile63Met) c.186T>G (p.Ile62Met) | |
7 | g.128254449C>A | CA369443665 | LEP | c.190C>A (p.Pro64Thr) c.187C>A (p.Pro63Thr) | |
7 | g.128254449C>G | CA369443666 | LEP | c.190C>G (p.Pro64Ala) c.187C>G (p.Pro63Ala) | |
7 | g.128254449C>T | CA369443667 | LEP | c.190C>T (p.Pro64Ser) c.187C>T (p.Pro63Ser) | ClinVar |
7 | g.128254450C>A | CA369443668 | LEP | c.191C>A (p.Pro64His) c.188C>A (p.Pro63His) | |
7 | g.128254450C>G | CA369443669 | LEP | c.191C>G (p.Pro64Arg) c.188C>G (p.Pro63Arg) | |
7 | g.128254450C>T | CA369443670 | LEP | c.191C>T (p.Pro64Leu) c.188C>T (p.Pro63Leu) | |
7 | g.128254451T>A | CA457857169 | LEP | c.192T>A (p.Pro64=) c.189T>A (p.Pro63=) | gnomAD v4 |
7 | g.128254451T>C | CA457857171 | LEP | c.192T>C (p.Pro64=) c.189T>C (p.Pro63=) | |
7 | g.128254451T>G | CA457857175 | LEP | c.192T>G (p.Pro64=) c.189T>G (p.Pro63=) | |
7 | g.128254451T= | CA1742271492 | LEP | c.192T= (p.Pro64=) c.189T= (p.Pro63=) | |
7 | g.128254452G>A | CA369443671 | LEP | c.193G>A (p.Gly65Arg) c.190G>A (p.Gly64Arg) | |
7 | g.128254452G>C | CA369443672 | LEP | c.193G>C (p.Gly65Arg) c.190G>C (p.Gly64Arg) | |
7 | g.128254452G>T | CA369443673 | LEP | c.193G>T (p.Gly65Trp) c.190G>T (p.Gly64Trp) | |
7 | g.128254452_128254455dup | CA4469670 | LEP | c.193_196dup (p.Leu66ArgfsTer?) c.190_193dup (p.Leu65ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254453G>A | CA369443674 | LEP | c.194G>A (p.Gly65Glu) c.191G>A (p.Gly64Glu) | |
7 | g.128254453G>C | CA369443675 | LEP | c.194G>C (p.Gly65Ala) c.191G>C (p.Gly64Ala) | |
7 | g.128254453G>T | CA369443676 | LEP | c.194G>T (p.Gly65Val) c.191G>T (p.Gly64Val) | ClinVar |
7 | g.128254454G>A | CA457857185 | LEP | c.195G>A (p.Gly65=) c.192G>A (p.Gly64=) | |
7 | g.128254454G>C | CA457857182 | LEP | c.195G>C (p.Gly65=) c.192G>C (p.Gly64=) | gnomAD v4 |
7 | g.128254454G= | CA1742271497 | LEP | c.195G= (p.Gly65=) c.192G= (p.Gly64=) | |
7 | g.128254454G>T | CA4469671 | LEP | c.195G>T (p.Gly65=) c.192G>T (p.Gly64=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254455C>A | CA369443677 | LEP | c.196C>A (p.Leu66Ile) c.193C>A (p.Leu65Ile) | |
7 | g.128254455C>G | CA369443678 | LEP | c.196C>G (p.Leu66Val) c.193C>G (p.Leu65Val) | |
7 | g.128254455C>T | CA369443679 | LEP | c.196C>T (p.Leu66Phe) c.193C>T (p.Leu65Phe) | |
7 | g.128254456T>A | CA369443680 | LEP | c.197T>A (p.Leu66His) c.194T>A (p.Leu65His) | dbSNP gnomAD v4 |
7 | g.128254456T>C | CA369443681 | LEP | c.197T>C (p.Leu66Pro) c.194T>C (p.Leu65Pro) | |
7 | g.128254456T>G | CA369443682 | LEP | c.197T>G (p.Leu66Arg) c.194T>G (p.Leu65Arg) | |
7 | g.128254456T= | CA1742271500 | LEP | c.197T= (p.Leu66=) c.194T= (p.Leu65=) | |
7 | g.128254459_128254467del | CA2579010563 | LEP | c.200_208del (p.His67_Ile69del) c.197_205del (p.His66_Ile68del) | |
7 | g.128254457C>A | CA457857191 | LEP | c.198C>A (p.Leu66=) c.195C>A (p.Leu65=) | |
7 | g.128254457C>G | CA457857192 | LEP | c.198C>G (p.Leu66=) c.195C>G (p.Leu65=) | |
7 | g.128254457C>T | CA457857194 | LEP | c.198C>T (p.Leu66=) c.195C>T (p.Leu65=) | |
7 | g.128254458C>A | CA369443683 | LEP | c.199C>A (p.His67Asn) c.196C>A (p.His66Asn) | |
7 | g.128254458C>G | CA369443684 | LEP | c.199C>G (p.His67Asp) c.196C>G (p.His66Asp) | |
7 | g.128254458C>T | CA369443685 | LEP | c.199C>T (p.His67Tyr) c.196C>T (p.His66Tyr) | gnomAD v4 |
7 | g.128254459A= | CA1742271508 | LEP | c.200A= (p.His67=) c.197A= (p.His66=) | |
7 | g.128254459A>C | CA369443686 | LEP | c.200A>C (p.His67Pro) c.197A>C (p.His66Pro) | dbSNP |
7 | g.128254459A>G | CA369443687 | LEP | c.200A>G (p.His67Arg) c.197A>G (p.His66Arg) | |
7 | g.128254459A>T | CA369443688 | LEP | c.200A>T (p.His67Leu) c.197A>T (p.His66Leu) | |
7 | g.128254460C>A | CA369443689 | LEP | c.201C>A (p.His67Gln) c.198C>A (p.His66Gln) | |
7 | g.128254460C>G | CA369443690 | LEP | c.201C>G (p.His67Gln) c.198C>G (p.His66Gln) | |
7 | g.128254460C>T | CA457857203 | LEP | c.201C>T (p.His67=) c.198C>T (p.His66=) | gnomAD v4 |
7 | g.128254463del | CA2715770921 | LEP | c.204del (p.Ile69SerfsTer2) c.201del (p.Ile68SerfsTer2) | dbSNP |
7 | g.128254461C>A | CA369443692 | LEP | c.202C>A (p.Pro68Thr) c.199C>A (p.Pro67Thr) | |
7 | g.128254461C>G | CA369443693 | LEP | c.202C>G (p.Pro68Ala) c.199C>G (p.Pro67Ala) | gnomAD v4 |
7 | g.128254461C>T | CA369443691 | LEP | c.202C>T (p.Pro68Ser) c.199C>T (p.Pro67Ser) | |
7 | g.128254462C>A | CA369443694 | LEP | c.203C>A (p.Pro68His) c.200C>A (p.Pro67His) | |
7 | g.128254462C>G | CA369443696 | LEP | c.203C>G (p.Pro68Arg) c.200C>G (p.Pro67Arg) | |
7 | g.128254462C>T | CA369443695 | LEP | c.203C>T (p.Pro68Leu) c.200C>T (p.Pro67Leu) | |
7 | g.128254463C>A | CA457857207 | LEP | c.204C>A (p.Pro68=) c.201C>A (p.Pro67=) | |
7 | g.128254463C= | CA1742271511 | LEP | c.204C= (p.Pro68=) c.201C= (p.Pro67=) | |
7 | g.128254463C>G | CA4469672 | LEP | c.204C>G (p.Pro68=) c.201C>G (p.Pro67=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254463C>T | CA457857208 | LEP | c.204C>T (p.Pro68=) c.201C>T (p.Pro67=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254464A= | CA1742271514 | LEP | c.205A= (p.Ile69=) c.202A= (p.Ile68=) | |
7 | g.128254464A>C | CA369443699 | LEP | c.205A>C (p.Ile69Leu) c.202A>C (p.Ile68Leu) | |
7 | g.128254464A>G | CA369443697 | LEP | c.205A>G (p.Ile69Val) c.202A>G (p.Ile68Val) | dbSNP |
7 | g.128254464A>T | CA369443698 | LEP | c.205A>T (p.Ile69Phe) c.202A>T (p.Ile68Phe) | |
7 | g.128254465T>A | CA369443700 | LEP | c.206T>A (p.Ile69Asn) c.203T>A (p.Ile68Asn) | |
7 | g.128254465T>C | CA369443701 | LEP | c.206T>C (p.Ile69Thr) c.203T>C (p.Ile68Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254465T>G | CA369443702 | LEP | c.206T>G (p.Ile69Ser) c.203T>G (p.Ile68Ser) | |
7 | g.128254465T= | CA1742271524 | LEP | c.206T= (p.Ile69=) c.203T= (p.Ile68=) | |
7 | g.128254466C>A | CA457857210 | LEP | c.207C>A (p.Ile69=) c.204C>A (p.Ile68=) | |
7 | g.128254466C>G | CA369443703 | LEP | c.207C>G (p.Ile69Met) c.204C>G (p.Ile68Met) | |
7 | g.128254466C>T | CA457857211 | LEP | c.207C>T (p.Ile69=) c.204C>T (p.Ile68=) | |
7 | g.128254467C>A | CA369443704 | LEP | c.208C>A (p.Leu70Met) c.205C>A (p.Leu69Met) | |
7 | g.128254467C>G | CA369443705 | LEP | c.208C>G (p.Leu70Val) c.205C>G (p.Leu69Val) | |
7 | g.128254467C>T | CA457857213 | LEP | c.208C>T (p.Leu70=) c.205C>T (p.Leu69=) | |
7 | g.128254468T>A | CA369443706 | LEP | c.209T>A (p.Leu70Gln) c.206T>A (p.Leu69Gln) | |
7 | g.128254468T>C | CA369443707 | LEP | c.209T>C (p.Leu70Pro) c.206T>C (p.Leu69Pro) | |
7 | g.128254468T>G | CA369443708 | LEP | c.209T>G (p.Leu70Arg) c.206T>G (p.Leu69Arg) | |
7 | g.128254469G>A | CA457857217 | LEP | c.210G>A (p.Leu70=) c.207G>A (p.Leu69=) | |
7 | g.128254469G>C | CA457857218 | LEP | c.210G>C (p.Leu70=) c.207G>C (p.Leu69=) | |
7 | g.128254469G>T | CA457857219 | LEP | c.210G>T (p.Leu70=) c.207G>T (p.Leu69=) | |
7 | g.128254470A>C | CA369443711 | LEP | c.211A>C (p.Thr71Pro) c.208A>C (p.Thr70Pro) | |
7 | g.128254470A>G | CA369443710 | LEP | c.211A>G (p.Thr71Ala) c.208A>G (p.Thr70Ala) | |
7 | g.128254470A>T | CA369443709 | LEP | c.211A>T (p.Thr71Ser) c.208A>T (p.Thr70Ser) | |
7 | g.128254471C>A | CA10628233 | LEP | c.212C>A (p.Thr71Asn) c.209C>A (p.Thr70Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254471C= | CA1742271531 | LEP | c.212C= (p.Thr71=) c.209C= (p.Thr70=) | |
7 | g.128254471C>G | CA369443712 | LEP | c.212C>G (p.Thr71Ser) c.209C>G (p.Thr70Ser) | |
7 | g.128254471C>T | CA369443713 | LEP | c.212C>T (p.Thr71Ile) c.209C>T (p.Thr70Ile) | gnomAD v4 |
7 | g.128254472C>A | CA457857229 | LEP | c.213C>A (p.Thr71=) c.210C>A (p.Thr70=) | |
7 | g.128254472C= | CA1742271541 | LEP | c.213C= (p.Thr71=) c.210C= (p.Thr70=) | |
7 | g.128254472C>G | CA457857227 | LEP | c.213C>G (p.Thr71=) c.210C>G (p.Thr70=) | |
7 | g.128254472C>T | CA166745189 | LEP | c.213C>T (p.Thr71=) c.210C>T (p.Thr70=) | dbSNP gnomAD v4 |
7 | g.128254473T>A | CA369443714 | LEP | c.214T>A (p.Leu72Ile) c.211T>A (p.Leu71Ile) | |
7 | g.128254473T>C | CA457857231 | LEP | c.214T>C (p.Leu72=) c.211T>C (p.Leu71=) | |
7 | g.128254473T>G | CA369443715 | LEP | c.214T>G (p.Leu72Val) c.211T>G (p.Leu71Val) | |
7 | g.128254474T>A | CA369443716 | LEP | c.215T>A (p.Leu72Ter) c.212T>A (p.Leu71Ter) | |
7 | g.128254474T>C | CA369443717 | LEP | c.215T>C (p.Leu72Ser) c.212T>C (p.Leu71Ser) | |
7 | g.128254474T>G | CA369443718 | LEP | c.215T>G (p.Leu72Ter) c.212T>G (p.Leu71Ter) | |
7 | g.128254475A>C | CA369443719 | LEP | c.216A>C (p.Leu72Phe) c.213A>C (p.Leu71Phe) | |
7 | g.128254475A>G | CA457857237 | LEP | c.216A>G (p.Leu72=) c.213A>G (p.Leu71=) | |
7 | g.128254475A>T | CA369443720 | LEP | c.216A>T (p.Leu72Phe) c.213A>T (p.Leu71Phe) | |
7 | g.128254476T>A | CA369443723 | LEP | c.217T>A (p.Ser73Thr) c.214T>A (p.Ser72Thr) | |
7 | g.128254476T>C | CA369443722 | LEP | c.217T>C (p.Ser73Pro) c.214T>C (p.Ser72Pro) | |
7 | g.128254476T>G | CA369443721 | LEP | c.217T>G (p.Ser73Ala) c.214T>G (p.Ser72Ala) | |
7 | g.128254477C>A | CA369443724 | LEP | c.218C>A (p.Ser73Tyr) c.215C>A (p.Ser72Tyr) | |
7 | g.128254477C>G | CA369443725 | LEP | c.218C>G (p.Ser73Cys) c.215C>G (p.Ser72Cys) | |
7 | g.128254477C>T | CA369443726 | LEP | c.218C>T (p.Ser73Phe) c.215C>T (p.Ser72Phe) |