2 | g.25164601T>C | CA2749204020 | POMC | c.132+40A>G (n.132+40A>G)
| |
2 | g.25164602C>T | CA2576693536 | POMC | c.132+39G>A (n.132+39G>A)
| gnomAD v4 |
2 | g.25164603T>C | CA2658160276 | POMC | c.132+38A>G (n.132+38A>G)
| gnomAD v4 |
2 | g.25164604A= | CA1239231491 | POMC | c.132+37T= (n.132+37T=)
| |
2 | g.25164604A>G | CA1555390 | POMC | c.132+37T>C (n.132+37T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164606T>C | CA2658160279 | POMC | c.132+35A>G (n.132+35A>G)
| gnomAD v4 |
2 | g.25164607G>A | CA1555391 | POMC | c.132+34C>T (n.132+34C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164607G= | CA1239231493 | POMC | c.132+34C= (n.132+34C=)
| |
2 | g.25164609C>A | CA2840409608 | POMC | c.132+32G>T (n.132+32G>T)
| |
2 | g.25164609C= | CA1239231498 | POMC | c.132+32G= (n.132+32G=)
| |
2 | g.25164609C>T | CA531359208 | POMC | c.132+32G>A (n.132+32G>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164610T>C | CA1239231502 | POMC | c.132+31A>G (n.132+31A>G)
| dbSNP |
2 | g.25164610T= | CA1239231501 | POMC | c.132+31A= (n.132+31A=)
| |
2 | g.25164612A>G | CA2576693537 | POMC | c.132+29T>C (n.132+29T>C)
| |
2 | g.25164613G>A | CA1028506612 | POMC | c.132+28C>T (n.132+28C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164613G= | CA1239231504 | POMC | c.132+28C= (n.132+28C=)
| |
2 | g.25164615C>T | CA2658160280 | POMC | c.132+26G>A (n.132+26G>A)
| gnomAD v4 |
2 | g.25164618G>A | CA646564899 | POMC | c.132+23C>T (n.132+23C>T)
| COSMIC |
2 | g.25164618G>C | CA646564900 | POMC | c.132+23C>G (n.132+23C>G)
| COSMIC COSMIC COSMIC |
2 | g.25164619A= | CA1239231505 | POMC | c.132+22T= (n.132+22T=)
| |
2 | g.25164619A>G | CA2658160281 | POMC | c.132+22T>C (n.132+22T>C)
| gnomAD v4 |
2 | g.25164619A>T | CA1028506621 | POMC | c.132+22T>A (n.132+22T>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164620T>C | CA2658160282 | POMC | c.132+21A>G (n.132+21A>G)
| gnomAD v4 |
2 | g.25164621G>A | CA43686426 | POMC | c.132+20C>T (n.132+20C>T)
| dbSNP |
2 | g.25164621G= | CA1239231508 | POMC | c.132+20C= (n.132+20C=)
| |
2 | g.25164622G>A | CA43686431 | POMC | c.132+19C>T (n.132+19C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25164622G= | CA1239231511 | POMC | c.132+19C= (n.132+19C=)
| |
2 | g.25164622_25164628dup | CA2658160283 | POMC | c.132+13_132+19dup (n.132+13_132+19dup)
| gnomAD v4 |
2 | g.25164623C>T | CA2576693538 | POMC | c.132+18G>A (n.132+18G>A)
| gnomAD v4 |
2 | g.25164624A= | CA1239231513 | POMC | c.132+17T= (n.132+17T=)
| |
2 | g.25164624A>G | CA1239231514 | POMC | c.132+17T>C (n.132+17T>C)
| dbSNP |
2 | g.25164629T>A | CA1239231516 | POMC | c.132+12A>T (n.132+12A>T)
| dbSNP gnomAD v4 |
2 | g.25164629T= | CA1239231515 | POMC | c.132+12A= (n.132+12A=)
| |
2 | g.25164632C>A | CA2658160288 | POMC | c.132+9G>T (n.132+9G>T)
| gnomAD v4 |
2 | g.25164632C>T | CA2658160289 | POMC | c.132+9G>A (n.132+9G>A)
| gnomAD v4 |
2 | g.25164635A>C | CA2658160291 | POMC | c.132+6T>G (n.132+6T>G)
| gnomAD v4 |
2 | g.25164635A>G | CA2740256255 | POMC | c.132+6T>C (n.132+6T>C)
| |
2 | g.25164636C>A | CA1555393 | POMC | c.132+5G>T (n.132+5G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164636C= | CA1239231520 | POMC | c.132+5G= (n.132+5G=)
| |
2 | g.25164636C>T | CA1555392 | POMC | c.132+5G>A (n.132+5G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164637G>A | CA1555394 | POMC | c.132+4C>T (n.132+4C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164637G= | CA1239231526 | POMC | c.132+4C= (n.132+4C=)
| |
2 | g.25164638T>C | CA1555395 | POMC | c.132+3A>G (n.132+3A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164638T= | CA1239231529 | POMC | c.132+3A= (n.132+3A=)
| |
2 | g.25164639A= | CA1239231534 | POMC | c.132+2T= (n.132+2T=)
| |
2 | g.25164639A>C | CA346067711 | POMC | c.132+2T>G (n.132+2T>G)
| COSMIC |
2 | g.25164639A>G | CA1555396 | POMC | c.132+2T>C (n.132+2T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164639A>T | CA346067712 | POMC | c.132+2T>A (n.132+2T>A)
| |
2 | g.25164640C>A | CA346067713 | POMC | c.132+1G>T (n.132+1G>T)
| |
2 | g.25164640C= | CA1239231538 | POMC | c.132+1G= (n.132+1G=)
| |
2 | g.25164640C>G | CA346067714 | POMC | c.132+1G>C (n.132+1G>C)
| dbSNP |
2 | g.25164640C>T | CA346067715 | POMC | c.132+1G>A (n.132+1G>A)
| |
2 | g.25164641C>A | CA425180678 | POMC | c.132G>T (p.Leu44=)
| |
2 | g.25164641C>G | CA425180679 | POMC | c.132G>C (p.Leu44=)
| |
2 | g.25164641C>T | CA425180680 | POMC | c.132G>A (p.Leu44=)
| |
2 | g.25164642A>C | CA346067718 | POMC | c.131T>G (p.Leu44Arg)
| |
2 | g.25164642A>G | CA346067717 | POMC | c.131T>C (p.Leu44Pro)
| |
2 | g.25164642A>T | CA346067716 | POMC | c.131T>A (p.Leu44Gln)
| |
2 | g.25164643G>A | CA425180681 | POMC | c.130C>T (p.Leu44=)
| |
2 | g.25164643G>C | CA346067720 | POMC | c.130C>G (p.Leu44Val)
| |
2 | g.25164643G>T | CA346067719 | POMC | c.130C>A (p.Leu44Met)
| |
2 | g.25164644C>A | CA425180682 | POMC | c.129G>T (p.Leu43=)
| |
2 | g.25164644C>G | CA425180683 | POMC | c.129G>C (p.Leu43=)
| |
2 | g.25164644C>T | CA425180684 | POMC | c.129G>A (p.Leu43=)
| |
2 | g.25164645A>C | CA346067723 | POMC | c.128T>G (p.Leu43Arg)
| |
2 | g.25164645A>G | CA346067721 | POMC | c.128T>C (p.Leu43Pro)
| |
2 | g.25164645A>T | CA346067722 | POMC | c.128T>A (p.Leu43Gln)
| |
2 | g.25164646G>A | CA425180685 | POMC | c.127C>T (p.Leu43=)
| gnomAD v4 |
2 | g.25164646G>C | CA346067724 | POMC | c.127C>G (p.Leu43Val)
| |
2 | g.25164646G= | CA1239231544 | POMC | c.127C= (p.Leu43=)
| |
2 | g.25164646G>T | CA43686448 | POMC | c.127C>A (p.Leu43Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164647G>A | CA425180686 | POMC | c.126C>T (p.Asn42=)
| |
2 | g.25164647G>C | CA346067725 | POMC | c.126C>G (p.Asn42Lys)
| |
2 | g.25164647G>T | CA346067726 | POMC | c.126C>A (p.Asn42Lys)
| gnomAD v4 |
2 | g.25164648T>A | CA346067728 | POMC | c.125A>T (p.Asn42Ile)
| |
2 | g.25164648T>C | CA1555397 | POMC | c.125A>G (p.Asn42Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164648T>G | CA346067727 | POMC | c.125A>C (p.Asn42Thr)
| |
2 | g.25164648T= | CA1239231548 | POMC | c.125A= (p.Asn42=)
| |
2 | g.25164649T>A | CA346067729 | POMC | c.124A>T (p.Asn42Tyr)
| |
2 | g.25164649T>C | CA346067730 | POMC | c.124A>G (p.Asn42Asp)
| |
2 | g.25164649T>G | CA346067731 | POMC | c.124A>C (p.Asn42His)
| |
2 | g.25164650G>A | CA425180687 | POMC | c.123C>T (p.Ser41=)
| gnomAD v4 |
2 | g.25164650G>C | CA346067732 | POMC | c.123C>G (p.Ser41Arg)
| |
2 | g.25164650G>T | CA346067733 | POMC | c.123C>A (p.Ser41Arg)
| |
2 | g.25164651C>A | CA346067734 | POMC | c.122G>T (p.Ser41Ile)
| |
2 | g.25164651C>G | CA346067736 | POMC | c.122G>C (p.Ser41Thr)
| |
2 | g.25164651C>T | CA346067735 | POMC | c.122G>A (p.Ser41Asn)
| |
2 | g.25164652T>A | CA346067737 | POMC | c.121A>T (p.Ser41Cys)
| |
2 | g.25164652T>C | CA346067738 | POMC | c.121A>G (p.Ser41Gly)
| |
2 | g.25164652T>G | CA346067739 | POMC | c.121A>C (p.Ser41Arg)
| |
2 | g.25164653T>A | CA346067740 | POMC | c.120A>T (p.Glu40Asp)
| |
2 | g.25164653T>C | CA425180688 | POMC | c.120A>G (p.Glu40=)
| gnomAD v4 |
2 | g.25164653T>G | CA1555398 | POMC | c.120A>C (p.Glu40Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164653T= | CA1239231553 | POMC | c.120A= (p.Glu40=)
| |
2 | g.25164654T>A | CA346067741 | POMC | c.119A>T (p.Glu40Val)
| gnomAD v4 |
2 | g.25164654T>C | CA346067742 | POMC | c.119A>G (p.Glu40Gly)
| |
2 | g.25164654T>G | CA346067743 | POMC | c.119A>C (p.Glu40Ala)
| |
2 | g.25164655C>A | CA346067744 | POMC | c.118G>T (p.Glu40Ter)
| |
2 | g.25164655C>G | CA346067745 | POMC | c.118G>C (p.Glu40Gln)
| |
2 | g.25164655C>T | CA346067746 | POMC | c.118G>A (p.Glu40Lys)
| |
2 | g.25164656C>A | CA425180690 | POMC | c.117G>T (p.Thr39=)
| |
2 | g.25164656C= | CA1239231556 | POMC | c.117G= (p.Thr39=)
| |
2 | g.25164656C>G | CA425180689 | POMC | c.117G>C (p.Thr39=)
| |
2 | g.25164656C>T | CA1555399 | POMC | c.117G>A (p.Thr39=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164657G>A | CA1555400 | POMC | c.116C>T (p.Thr39Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25164657G>C | CA346067747 | POMC | c.116C>G (p.Thr39Arg)
| |
2 | g.25164657G= | CA1239231562 | POMC | c.116C= (p.Thr39=)
| |
2 | g.25164657G>T | CA346067748 | POMC | c.116C>A (p.Thr39Lys)
| dbSNP |
2 | g.25164658T>A | CA346067749 | POMC | c.115A>T (p.Thr39Ser)
| |
2 | g.25164658T>C | CA346067750 | POMC | c.115A>G (p.Thr39Ala)
| |
2 | g.25164658T>G | CA346067751 | POMC | c.115A>C (p.Thr39Pro)
| |
2 | g.25164659G>A | CA43686461 | POMC | c.114C>T (p.Thr38=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164659G>C | CA425180691 | POMC | c.114C>G (p.Thr38=)
| gnomAD v4 |
2 | g.25164659G= | CA1239231567 | POMC | c.114C= (p.Thr38=)
| |
2 | g.25164659G>T | CA425180692 | POMC | c.114C>A (p.Thr38=)
| |
2 | g.25164660G>A | CA1555401 | POMC | c.113C>T (p.Thr38Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164660G>C | CA346067752 | POMC | c.113C>G (p.Thr38Ser)
| |
2 | g.25164660G= | CA1239231570 | POMC | c.113C= (p.Thr38=)
| |
2 | g.25164660G>T | CA346067753 | POMC | c.113C>A (p.Thr38Asn)
| |
2 | g.25164661T>A | CA1555402 | POMC | c.112A>T (p.Thr38Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164661T>C | CA346067754 | POMC | c.112A>G (p.Thr38Ala)
| |
2 | g.25164661T>G | CA346067755 | POMC | c.112A>C (p.Thr38Pro)
| |
2 | g.25164661T= | CA1239231576 | POMC | c.112A= (p.Thr38=)
| |
2 | g.25164662G>A | CA425180693 | POMC | c.111C>T (p.Leu37=)
| COSMIC |
2 | g.25164662G>C | CA425180694 | POMC | c.111C>G (p.Leu37=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164662G= | CA1239231580 | POMC | c.111C= (p.Leu37=)
| |
2 | g.25164662G>T | CA425180695 | POMC | c.111C>A (p.Leu37=)
| |
2 | g.25164663A>C | CA346067757 | POMC | c.110T>G (p.Leu37Arg)
| |
2 | g.25164663A>G | CA346067758 | POMC | c.110T>C (p.Leu37Pro)
| |
2 | g.25164663A>T | CA346067756 | POMC | c.110T>A (p.Leu37His)
| |
2 | g.25164664G>A | CA1555403 | POMC | c.109C>T (p.Leu37Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164664G>C | CA346067759 | POMC | c.109C>G (p.Leu37Val)
| |
2 | g.25164664G= | CA1239231584 | POMC | c.109C= (p.Leu37=)
| |
2 | g.25164664G>T | CA346067760 | POMC | c.109C>A (p.Leu37Ile)
| |
2 | g.25164665G>A | CA1555404 | POMC | c.108C>T (p.Asp36=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164665G>C | CA346067761 | POMC | c.108C>G (p.Asp36Glu)
| |
2 | g.25164665G= | CA1239231590 | POMC | c.108C= (p.Asp36=)
| |
2 | g.25164665G>T | CA346067762 | POMC | c.108C>A (p.Asp36Glu)
| gnomAD v4 |
2 | g.25164666T>A | CA346067763 | POMC | c.107A>T (p.Asp36Val)
| |
2 | g.25164666T>C | CA346067765 | POMC | c.107A>G (p.Asp36Gly)
| |
2 | g.25164666T>G | CA346067764 | POMC | c.107A>C (p.Asp36Ala)
| |
2 | g.25164667C>A | CA346067766 | POMC | c.106G>T (p.Asp36Tyr)
| gnomAD v4 |
2 | g.25164667C= | CA1239231593 | POMC | c.106G= (p.Asp36=)
| |
2 | g.25164667C>G | CA346067767 | POMC | c.106G>C (p.Asp36His)
| |
2 | g.25164667C>T | CA346067768 | POMC | c.106G>A (p.Asp36Asn)
| dbSNP gnomAD v4 COSMIC |
2 | g.25164668C>A | CA346067769 | POMC | c.105G>T (p.Gln35His)
| |
2 | g.25164668C>G | CA346067770 | POMC | c.105G>C (p.Gln35His)
| |
2 | g.25164668C>T | CA425180696 | POMC | c.105G>A (p.Gln35=)
| |
2 | g.25164669T>A | CA346067772 | POMC | c.104A>T (p.Gln35Leu)
| |
2 | g.25164669T>C | CA1555405 | POMC | c.104A>G (p.Gln35Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164669T>G | CA346067771 | POMC | c.104A>C (p.Gln35Pro)
| |
2 | g.25164669T= | CA1239231597 | POMC | c.104A= (p.Gln35=)
| |
2 | g.25164670G>A | CA346067773 | POMC | c.103C>T (p.Gln35Ter)
| |
2 | g.25164670G>C | CA346067775 | POMC | c.103C>G (p.Gln35Glu)
| |
2 | g.25164670G>T | CA346067774 | POMC | c.103C>A (p.Gln35Lys)
| |
2 | g.25164671A>C | CA346067776 | POMC | c.102T>G (p.Cys34Trp)
| |
2 | g.25164671A>G | CA425180697 | POMC | c.102T>C (p.Cys34=)
| |
2 | g.25164671A>T | CA346067777 | POMC | c.102T>A (p.Cys34Ter)
| |
2 | g.25164672C>A | CA346067778 | POMC | c.101G>T (p.Cys34Phe)
| |
2 | g.25164672C>G | CA346067779 | POMC | c.101G>C (p.Cys34Ser)
| |
2 | g.25164672C>T | CA346067780 | POMC | c.101G>A (p.Cys34Tyr)
| |
2 | g.25164673A= | CA1239231603 | POMC | c.100T= (p.Cys34=)
| |
2 | g.25164673A>C | CA346067781 | POMC | c.100T>G (p.Cys34Gly)
| |
2 | g.25164673A>G | CA346067782 | POMC | c.100T>C (p.Cys34Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164673A>T | CA346067783 | POMC | c.100T>A (p.Cys34Ser)
| |
2 | g.25164674C>A | CA346067784 | POMC | c.99G>T (p.Gln33His)
| |
2 | g.25164674C>G | CA346067785 | POMC | c.99G>C (p.Gln33His)
| |
2 | g.25164674C>T | CA425180699 | POMC | c.99G>A (p.Gln33=)
| |
2 | g.25164675T>A | CA346067786 | POMC | c.98A>T (p.Gln33Leu)
| |
2 | g.25164675T>C | CA346067787 | POMC | c.98A>G (p.Gln33Arg)
| |
2 | g.25164675T>G | CA346067788 | POMC | c.98A>C (p.Gln33Pro)
| |
2 | g.25164676G>A | CA346067791 | POMC | c.97C>T (p.Gln33Ter)
| COSMIC |
2 | g.25164676G>C | CA346067789 | POMC | c.97C>G (p.Gln33Glu)
| |
2 | g.25164676G>T | CA346067790 | POMC | c.97C>A (p.Gln33Lys)
| |
2 | g.25164677G>A | CA425180700 | POMC | c.96C>T (p.Ser32=)
| |
2 | g.25164677G>C | CA346067792 | POMC | c.96C>G (p.Ser32Arg)
| |
2 | g.25164677G= | CA1239231604 | POMC | c.96C= (p.Ser32=)
| |
2 | g.25164677G>T | CA346067793 | POMC | c.96C>A (p.Ser32Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164678C>A | CA346067794 | POMC | c.95G>T (p.Ser32Ile)
| |
2 | g.25164678C>G | CA346067795 | POMC | c.95G>C (p.Ser32Thr)
| |
2 | g.25164678C>T | CA346067796 | POMC | c.95G>A (p.Ser32Asn)
| |
2 | g.25164679T>A | CA346067797 | POMC | c.94A>T (p.Ser32Cys)
| |
2 | g.25164679T>C | CA346067798 | POMC | c.94A>G (p.Ser32Gly)
| |
2 | g.25164679T>G | CA346067799 | POMC | c.94A>C (p.Ser32Arg)
| |
2 | g.25164680G>A | CA425180701 | POMC | c.93C>T (p.Ser31=)
| |
2 | g.25164680G>C | CA346067800 | POMC | c.93C>G (p.Ser31Arg)
| |
2 | g.25164680G>T | CA346067801 | POMC | c.93C>A (p.Ser31Arg)
| |
2 | g.25164681C>A | CA346067802 | POMC | c.92G>T (p.Ser31Ile)
| |
2 | g.25164681C= | CA1239231608 | POMC | c.92G= (p.Ser31=)
| |
2 | g.25164681C>G | CA346067803 | POMC | c.92G>C (p.Ser31Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164681C>T | CA43686474 | POMC | c.92G>A (p.Ser31Asn)
| dbSNP |
2 | g.25164682T>A | CA1555406 | POMC | c.91A>T (p.Ser31Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164682T>C | CA346067804 | POMC | c.91A>G (p.Ser31Gly)
| gnomAD v4 |
2 | g.25164682T>G | CA346067805 | POMC | c.91A>C (p.Ser31Arg)
| |
2 | g.25164682T= | CA1239231612 | POMC | c.91A= (p.Ser31=)
| |
2 | g.25164683C>A | CA346067806 | POMC | c.90G>T (p.Glu30Asp)
| |
2 | g.25164683C= | CA1239231616 | POMC | c.90G= (p.Glu30=)
| |
2 | g.25164683C>G | CA1555407 | POMC | c.90G>C (p.Glu30Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164683C>T | CA425180702 | POMC | c.90G>A (p.Glu30=)
| gnomAD v4 |
2 | g.25164684T>A | CA346067807 | POMC | c.89A>T (p.Glu30Val)
| |
2 | g.25164684T>C | CA346067808 | POMC | c.89A>G (p.Glu30Gly)
| |
2 | g.25164684T>G | CA346067809 | POMC | c.89A>C (p.Glu30Ala)
| |
2 | g.25164685C>A | CA346067810 | POMC | c.88G>T (p.Glu30Ter)
| |
2 | g.25164685C= | CA1239231619 | POMC | c.88G= (p.Glu30=)
| |
2 | g.25164685C>G | CA346067811 | POMC | c.88G>C (p.Glu30Gln)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164685C>T | CA346067812 | POMC | c.88G>A (p.Glu30Lys)
| |
2 | g.25164686C>A | CA425180703 | POMC | c.87G>T (p.Leu29=)
| |
2 | g.25164686C= | CA1239231623 | POMC | c.87G= (p.Leu29=)
| |
2 | g.25164686C>G | CA425180704 | POMC | c.87G>C (p.Leu29=)
| |
2 | g.25164686C>T | CA425180705 | POMC | c.87G>A (p.Leu29=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164687A= | CA1239231628 | POMC | c.86T= (p.Leu29=)
| |
2 | g.25164687A>C | CA346067814 | POMC | c.86T>G (p.Leu29Arg)
| dbSNP |
2 | g.25164687A>G | CA346067815 | POMC | c.86T>C (p.Leu29Pro)
| gnomAD v4 |
2 | g.25164687A>T | CA346067813 | POMC | c.86T>A (p.Leu29Gln)
| |
2 | g.25164688G>A | CA425180706 | POMC | c.85C>T (p.Leu29=)
| |
2 | g.25164688G>C | CA346067816 | POMC | c.85C>G (p.Leu29Val)
| |
2 | g.25164688G>T | CA346067817 | POMC | c.85C>A (p.Leu29Met)
| |
2 | g.25164689G>A | CA425180707 | POMC | c.84C>T (p.Cys28=)
| |
2 | g.25164689G>C | CA346067818 | POMC | c.84C>G (p.Cys28Trp)
| |
2 | g.25164689G= | CA1239231635 | POMC | c.84C= (p.Cys28=)
| |
2 | g.25164689G>T | CA346067819 | POMC | c.84C>A (p.Cys28Ter)
| ClinVar dbSNP |
2 | g.25164690C>A | CA1555408 | POMC | c.83G>T (p.Cys28Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164690C= | CA1239231641 | POMC | c.83G= (p.Cys28=)
| |
2 | g.25164690C>G | CA346067821 | POMC | c.83G>C (p.Cys28Ser)
| |
2 | g.25164690C>T | CA346067820 | POMC | c.83G>A (p.Cys28Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164690_25164692delinsGT | CA2586968735 | POMC | c.81_83delinsAC (p.Trp27Ter)
| |
2 | g.25164691A= | CA1239231650 | POMC | c.82T= (p.Cys28=)
| |
2 | g.25164691A>C | CA346067822 | POMC | c.82T>G (p.Cys28Gly)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164691A>G | CA346067823 | POMC | c.82T>C (p.Cys28Arg)
| |
2 | g.25164691A>T | CA346067824 | POMC | c.82T>A (p.Cys28Ser)
| |
2 | g.25164691_25164695delinsACCAG | CA1239231652 | POMC | c.78_82delinsCTGGT (p.Gly26=)
| |
2 | g.25164692C>A | CA346067825 | POMC | c.81G>T (p.Trp27Cys)
| |
2 | g.25164692C>G | CA346067826 | POMC | c.81G>C (p.Trp27Cys)
| gnomAD v4 |
2 | g.25164692C>T | CA346067827 | POMC | c.81G>A (p.Trp27Ter)
| COSMIC |
2 | g.25164695_25164698del | CA1555409 | POMC | c.78_81del (p.Trp27AlafsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164693C>A | CA346067830 | POMC | c.80G>T (p.Trp27Leu)
| |
2 | g.25164693C= | CA1239231663 | POMC | c.80G= (p.Trp27=)
| |
2 | g.25164693C>G | CA346067829 | POMC | c.80G>C (p.Trp27Ser)
| |
2 | g.25164693C>T | CA346067828 | POMC | c.80G>A (p.Trp27Ter)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164694A>C | CA346067832 | POMC | c.79T>G (p.Trp27Gly)
| |
2 | g.25164694A>G | CA346067831 | POMC | c.79T>C (p.Trp27Arg)
| |
2 | g.25164694A>T | CA346067833 | POMC | c.79T>A (p.Trp27Arg)
| |
2 | g.25164695G>A | CA425180708 | POMC | c.78C>T (p.Gly26=)
| gnomAD v4 |
2 | g.25164695G>C | CA425180709 | POMC | c.78C>G (p.Gly26=)
| |
2 | g.25164695G= | CA1239231667 | POMC | c.78C= (p.Gly26=)
| |
2 | g.25164695G>T | CA425180710 | POMC | c.78C>A (p.Gly26=)
| dbSNP |
2 | g.25164696C>A | CA346067834 | POMC | c.77G>T (p.Gly26Val)
| |
2 | g.25164696C>G | CA346067835 | POMC | c.77G>C (p.Gly26Ala)
| |
2 | g.25164696C>T | CA346067836 | POMC | c.77G>A (p.Gly26Asp)
| |
2 | g.25164697C>A | CA346067837 | POMC | c.76G>T (p.Gly26Cys)
| |
2 | g.25164697C>G | CA346067838 | POMC | c.76G>C (p.Gly26Arg)
| |
2 | g.25164697C>T | CA346067839 | POMC | c.76G>A (p.Gly26Ser)
| |
2 | g.25164698A>C | CA425180713 | POMC | c.75T>G (p.Arg25=)
| |
2 | g.25164698A>G | CA425180711 | POMC | c.75T>C (p.Arg25=)
| |
2 | g.25164698A>T | CA425180712 | POMC | c.75T>A (p.Arg25=)
| |
2 | g.25164699C>A | CA346067840 | POMC | c.74G>T (p.Arg25Leu)
| |
2 | g.25164699C= | CA1239231671 | POMC | c.74G= (p.Arg25=)
| |
2 | g.25164699C>G | CA1555411 | POMC | c.74G>C (p.Arg25Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164699C>T | CA1555410 | POMC | c.74G>A (p.Arg25His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164700G>A | CA43686512 | POMC | c.73C>T (p.Arg25Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164700G>C | CA346067841 | POMC | c.73C>G (p.Arg25Gly)
| |
2 | g.25164700G= | CA1239231677 | POMC | c.73C= (p.Arg25=)
| |
2 | g.25164700G>T | CA346067842 | POMC | c.73C>A (p.Arg25Ser)
| |
2 | g.25164701C>A | CA425180716 | POMC | c.72G>T (p.Val24=)
| |
2 | g.25164701C>G | CA425180715 | POMC | c.72G>C (p.Val24=)
| |
2 | g.25164701C>T | CA425180714 | POMC | c.72G>A (p.Val24=)
| |