Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73641019_73641041dup | CA2659622943 | NAT8 | c.595_617dup (p.Arg206SerfsTer10) | gnomAD v4 |
2 | g.73641037G>A | CA347286517 | NAT8 | c.592C>T (p.Gln198Ter) | gnomAD v4 |
2 | g.73641037G>C | CA347286525 | NAT8 | c.592C>G (p.Gln198Glu) | |
2 | g.73641037G>T | CA347286527 | NAT8 | c.592C>A (p.Gln198Lys) | |
2 | g.73641038G>A | CA427024412 | NAT8 | c.591C>T (p.Gly197=) | |
2 | g.73641038G>C | CA427024414 | NAT8 | c.591C>G (p.Gly197=) | |
2 | g.73641038G>T | CA427024415 | NAT8 | c.591C>A (p.Gly197=) | dbSNP |
2 | g.73641039C>A | CA347286535 | NAT8 | c.590G>T (p.Gly197Val) | |
2 | g.73641039C>G | CA347286531 | NAT8 | c.590G>C (p.Gly197Ala) | |
2 | g.73641039C>T | CA347286530 | NAT8 | c.590G>A (p.Gly197Asp) | |
2 | g.73641040C>A | CA347286543 | NAT8 | c.589G>T (p.Gly197Cys) | |
2 | g.73641040C= | CA1261057128 | NAT8 | c.589G= (p.Gly197=) | |
2 | g.73641040C>G | CA347286539 | NAT8 | c.589G>C (p.Gly197Arg) | |
2 | g.73641040C>T | CA50370988 | NAT8 | c.589G>A (p.Gly197Ser) | dbSNP |
2 | g.73641041C>A | CA427024433 | NAT8 | c.588G>T (p.Thr196=) | gnomAD v4 |
2 | g.73641041C= | CA1261057129 | NAT8 | c.588G= (p.Thr196=) | |
2 | g.73641041C>G | CA427024432 | NAT8 | c.588G>C (p.Thr196=) | dbSNP |
2 | g.73641041C>T | CA1715657 | NAT8 | c.588G>A (p.Thr196=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641042G>A | CA1715658 | NAT8 | c.587C>T (p.Thr196Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641042G>C | CA347286553 | NAT8 | c.587C>G (p.Thr196Arg) | |
2 | g.73641042G= | CA1261057130 | NAT8 | c.587C= (p.Thr196=) | |
2 | g.73641042G>T | CA347286554 | NAT8 | c.587C>A (p.Thr196Lys) | |
2 | g.73641043T>A | CA347286558 | NAT8 | c.586A>T (p.Thr196Ser) | |
2 | g.73641043T>C | CA347286560 | NAT8 | c.586A>G (p.Thr196Ala) | |
2 | g.73641043T>G | CA347286563 | NAT8 | c.586A>C (p.Thr196Pro) | gnomAD v4 |
2 | g.73641044C>A | CA347286565 | NAT8 | c.585G>T (p.Lys195Asn) | |
2 | g.73641044C= | CA1261057131 | NAT8 | c.585G= (p.Lys195=) | |
2 | g.73641044C>G | CA347286568 | NAT8 | c.585G>C (p.Lys195Asn) | ClinVar COSMIC |
2 | g.73641044C>T | CA427024447 | NAT8 | c.585G>A (p.Lys195=) | dbSNP |
2 | g.73641045T>A | CA347286572 | NAT8 | c.584A>T (p.Lys195Met) | |
2 | g.73641045T>C | CA347286575 | NAT8 | c.584A>G (p.Lys195Arg) | |
2 | g.73641045T>G | CA347286579 | NAT8 | c.584A>C (p.Lys195Thr) | COSMIC |
2 | g.73641046T>A | CA347286586 | NAT8 | c.583A>T (p.Lys195Ter) | |
2 | g.73641046T>C | CA347286589 | NAT8 | c.583A>G (p.Lys195Glu) | dbSNP gnomAD v2 |
2 | g.73641046T>G | CA347286583 | NAT8 | c.583A>C (p.Lys195Gln) | |
2 | g.73641046T= | CA1261057132 | NAT8 | c.583A= (p.Lys195=) | |
2 | g.73641047C>A | CA347286592 | NAT8 | c.582G>T (p.Lys194Asn) | |
2 | g.73641047C>G | CA347286596 | NAT8 | c.582G>C (p.Lys194Asn) | gnomAD v4 |
2 | g.73641047C>T | CA427024453 | NAT8 | c.582G>A (p.Lys194=) | |
2 | g.73641048T>A | CA347286599 | NAT8 | c.581A>T (p.Lys194Met) | |
2 | g.73641048T>C | CA347286602 | NAT8 | c.581A>G (p.Lys194Arg) | gnomAD v4 |
2 | g.73641048T>G | CA347286605 | NAT8 | c.581A>C (p.Lys194Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641048T= | CA1261057133 | NAT8 | c.581A= (p.Lys194=) | |
2 | g.73641049T>A | CA347286615 | NAT8 | c.580A>T (p.Lys194Ter) | |
2 | g.73641049T>C | CA347286608 | NAT8 | c.580A>G (p.Lys194Glu) | gnomAD v4 |
2 | g.73641049T>G | CA347286612 | NAT8 | c.580A>C (p.Lys194Gln) | |
2 | g.73641050G>A | CA427024459 | NAT8 | c.579C>T (p.Phe193=) | |
2 | g.73641050G>C | CA347286618 | NAT8 | c.579C>G (p.Phe193Leu) | |
2 | g.73641050G>T | CA347286620 | NAT8 | c.579C>A (p.Phe193Leu) | |
2 | g.73641051A>C | CA347286627 | NAT8 | c.578T>G (p.Phe193Cys) | |
2 | g.73641051A>G | CA347286628 | NAT8 | c.578T>C (p.Phe193Ser) | |
2 | g.73641051A>T | CA347286630 | NAT8 | c.578T>A (p.Phe193Tyr) | |
2 | g.73641052A>C | CA347286640 | NAT8 | c.577T>G (p.Phe193Val) | |
2 | g.73641052A>G | CA347286638 | NAT8 | c.577T>C (p.Phe193Leu) | |
2 | g.73641052A>T | CA347286635 | NAT8 | c.577T>A (p.Phe193Ile) | |
2 | g.73641053G>A | CA427024468 | NAT8 | c.576C>T (p.Gly192=) | |
2 | g.73641053G>C | CA427024470 | NAT8 | c.576C>G (p.Gly192=) | |
2 | g.73641053G>T | CA427024472 | NAT8 | c.576C>A (p.Gly192=) | |
2 | g.73641054C>A | CA347286645 | NAT8 | c.575G>T (p.Gly192Val) | dbSNP |
2 | g.73641054C= | CA1261057134 | NAT8 | c.575G= (p.Gly192=) | |
2 | g.73641054C>G | CA347286647 | NAT8 | c.575G>C (p.Gly192Ala) | gnomAD v4 |
2 | g.73641054C>T | CA347286650 | NAT8 | c.575G>A (p.Gly192Asp) | |
2 | g.73641055C>A | CA347286655 | NAT8 | c.574G>T (p.Gly192Cys) | |
2 | g.73641055C>G | CA347286658 | NAT8 | c.574G>C (p.Gly192Arg) | |
2 | g.73641055C>T | CA347286661 | NAT8 | c.574G>A (p.Gly192Ser) | |
2 | g.73641056C>A | CA347286664 | NAT8 | c.573G>T (p.Met191Ile) | |
2 | g.73641056C>G | CA347286668 | NAT8 | c.573G>C (p.Met191Ile) | |
2 | g.73641056C>T | CA347286671 | NAT8 | c.573G>A (p.Met191Ile) | gnomAD v4 |
2 | g.73641057A= | CA1261057135 | NAT8 | c.572T= (p.Met191=) | |
2 | g.73641057A>C | CA347286674 | NAT8 | c.572T>G (p.Met191Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641057A>G | CA1715659 | NAT8 | c.572T>C (p.Met191Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641057A>T | CA347286679 | NAT8 | c.572T>A (p.Met191Lys) | |
2 | g.73641058T>A | CA1715660 | NAT8 | c.571A>T (p.Met191Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641058T>C | CA347286689 | NAT8 | c.571A>G (p.Met191Val) | |
2 | g.73641058T>G | CA347286683 | NAT8 | c.571A>C (p.Met191Leu) | |
2 | g.73641058T= | CA1261057136 | NAT8 | c.571A= (p.Met191=) | |
2 | g.73641059G>A | CA1715661 | NAT8 | c.570C>T (p.Ser190=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641059G>C | CA347286693 | NAT8 | c.570C>G (p.Ser190Arg) | |
2 | g.73641059G= | CA1261057137 | NAT8 | c.570C= (p.Ser190=) | |
2 | g.73641059G>T | CA1715662 | NAT8 | c.570C>A (p.Ser190Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641060C>A | CA347286698 | NAT8 | c.569G>T (p.Ser190Ile) | |
2 | g.73641060C>G | CA347286702 | NAT8 | c.569G>C (p.Ser190Thr) | |
2 | g.73641060C>T | CA347286705 | NAT8 | c.569G>A (p.Ser190Asn) | |
2 | g.73641061T>A | CA347286708 | NAT8 | c.568A>T (p.Ser190Cys) | |
2 | g.73641061T>C | CA347286713 | NAT8 | c.568A>G (p.Ser190Gly) | |
2 | g.73641061T>G | CA347286710 | NAT8 | c.568A>C (p.Ser190Arg) | |
2 | g.73641062C>A | CA347286716 | NAT8 | c.567G>T (p.Gln189His) | |
2 | g.73641062C= | CA1261057138 | NAT8 | c.567G= (p.Gln189=) | |
2 | g.73641062C>G | CA347286719 | NAT8 | c.567G>C (p.Gln189His) | gnomAD v4 |
2 | g.73641062C>T | CA427024491 | NAT8 | c.567G>A (p.Gln189=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641063T>A | CA347286722 | NAT8 | c.566A>T (p.Gln189Leu) | |
2 | g.73641063T>C | CA347286725 | NAT8 | c.566A>G (p.Gln189Arg) | |
2 | g.73641063T>G | CA347286728 | NAT8 | c.566A>C (p.Gln189Pro) | |
2 | g.73641064G>A | CA347286733 | NAT8 | c.565C>T (p.Gln189Ter) | gnomAD v4 |
2 | g.73641064G>C | CA347286735 | NAT8 | c.565C>G (p.Gln189Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641064G= | CA1261057139 | NAT8 | c.565C= (p.Gln189=) | |
2 | g.73641064G>T | CA347286731 | NAT8 | c.565C>A (p.Gln189Lys) | |
2 | g.73641065G>A | CA427024499 | NAT8 | c.564C>T (p.Tyr188=) | gnomAD v4 |
2 | g.73641065G>C | CA347286744 | NAT8 | c.564C>G (p.Tyr188Ter) | |
2 | g.73641065G= | CA1261057140 | NAT8 | c.564C= (p.Tyr188=) | |
2 | g.73641065G>T | CA347286746 | NAT8 | c.564C>A (p.Tyr188Ter) | dbSNP |
2 | g.73641066T>A | CA347286749 | NAT8 | c.563A>T (p.Tyr188Phe) | |
2 | g.73641066T>C | CA347286758 | NAT8 | c.563A>G (p.Tyr188Cys) | |
2 | g.73641066T>G | CA347286761 | NAT8 | c.563A>C (p.Tyr188Ser) | |
2 | g.73641067A>C | CA347286766 | NAT8 | c.562T>G (p.Tyr188Asp) | |
2 | g.73641067A>G | CA347286769 | NAT8 | c.562T>C (p.Tyr188His) | |
2 | g.73641067A>T | CA347286772 | NAT8 | c.562T>A (p.Tyr188Asn) | |
2 | g.73641068G>A | CA427024510 | NAT8 | c.561C>T (p.Leu187=) | |
2 | g.73641068G>C | CA427024509 | NAT8 | c.561C>G (p.Leu187=) | |
2 | g.73641068G= | CA1261057141 | NAT8 | c.561C= (p.Leu187=) | |
2 | g.73641068G>T | CA427024505 | NAT8 | c.561C>A (p.Leu187=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641069A>C | CA347286782 | NAT8 | c.560T>G (p.Leu187Arg) | |
2 | g.73641069A>G | CA347286779 | NAT8 | c.560T>C (p.Leu187Pro) | |
2 | g.73641069A>T | CA347286777 | NAT8 | c.560T>A (p.Leu187His) | |
2 | g.73641070G>A | CA347286786 | NAT8 | c.559C>T (p.Leu187Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641070G>C | CA1715663 | NAT8 | c.559C>G (p.Leu187Val) | dbSNP ExAC |
2 | g.73641070G= | CA1261057142 | NAT8 | c.559C= (p.Leu187=) | |
2 | g.73641070G>T | CA347286791 | NAT8 | c.559C>A (p.Leu187Ile) | |
2 | g.73641071G>A | CA427024513 | NAT8 | c.558C>T (p.Ala186=) | |
2 | g.73641071G>C | CA427024514 | NAT8 | c.558C>G (p.Ala186=) | |
2 | g.73641071G>T | CA427024516 | NAT8 | c.558C>A (p.Ala186=) | |
2 | g.73641072G>A | CA347286793 | NAT8 | c.557C>T (p.Ala186Val) | gnomAD v4 |
2 | g.73641072G>C | CA50371054 | NAT8 | c.557C>G (p.Ala186Gly) | dbSNP gnomAD v4 |
2 | g.73641072G= | CA1261057143 | NAT8 | c.557C= (p.Ala186=) | |
2 | g.73641072G>T | CA347286799 | NAT8 | c.557C>A (p.Ala186Asp) | gnomAD v4 |
2 | g.73641073C>A | CA347286804 | NAT8 | c.556G>T (p.Ala186Ser) | |
2 | g.73641073C>G | CA347286809 | NAT8 | c.556G>C (p.Ala186Pro) | |
2 | g.73641073C>T | CA347286806 | NAT8 | c.556G>A (p.Ala186Thr) | |
2 | g.73641074dup | CA892867186 | NAT8 | c.556dup (p.Ala186GlyfsTer?) | dbSNP |
2 | g.73641074C>A | CA347286812 | NAT8 | c.555G>T (p.Met185Ile) | |
2 | g.73641074C= | CA1261057144 | NAT8 | c.555G= (p.Met185=) | |
2 | g.73641074C>G | CA347286815 | NAT8 | c.555G>C (p.Met185Ile) | |
2 | g.73641074C>T | CA1715664 | NAT8 | c.555G>A (p.Met185Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641075A>C | CA347286822 | NAT8 | c.554T>G (p.Met185Arg) | |
2 | g.73641075A>G | CA347286824 | NAT8 | c.554T>C (p.Met185Thr) | gnomAD v4 |
2 | g.73641075A>T | CA347286827 | NAT8 | c.554T>A (p.Met185Lys) | |
2 | g.73641076T>A | CA347286831 | NAT8 | c.553A>T (p.Met185Leu) | |
2 | g.73641076T>C | CA347286836 | NAT8 | c.553A>G (p.Met185Val) | |
2 | g.73641076T>G | CA347286837 | NAT8 | c.553A>C (p.Met185Leu) | |
2 | g.73641077A>C | CA427024525 | NAT8 | c.552T>G (p.Ala184=) | |
2 | g.73641077A>G | CA427024526 | NAT8 | c.552T>C (p.Ala184=) | gnomAD v4 |
2 | g.73641077A>T | CA427024529 | NAT8 | c.552T>A (p.Ala184=) | |
2 | g.73641078G>A | CA347286842 | NAT8 | c.551C>T (p.Ala184Val) | COSMIC |
2 | g.73641078G>C | CA347286844 | NAT8 | c.551C>G (p.Ala184Gly) | |
2 | g.73641078G>T | CA347286848 | NAT8 | c.551C>A (p.Ala184Asp) | |
2 | g.73641079C>A | CA347286851 | NAT8 | c.550G>T (p.Ala184Ser) | |
2 | g.73641079C= | CA1261057145 | NAT8 | c.550G= (p.Ala184=) | |
2 | g.73641079C>G | CA1715665 | NAT8 | c.550G>C (p.Ala184Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641079C>T | CA347286854 | NAT8 | c.550G>A (p.Ala184Thr) | dbSNP gnomAD v4 |
2 | g.73641079_73641081delinsCAG | CA1261057146 | NAT8 | c.548_550delinsCTG (p.Ser183=) | |
2 | g.73641080A>C | CA427024535 | NAT8 | c.549T>G (p.Ser183=) | |
2 | g.73641080A>G | CA427024537 | NAT8 | c.549T>C (p.Ser183=) | |
2 | g.73641080A>T | CA427024536 | NAT8 | c.549T>A (p.Ser183=) | |
2 | g.73641084_73641085del | CA914421980 | NAT8 | c.548_549del (p.Ser183CysfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641080_73641081insCTAAATAAATATTTGTTTCATTTGGTGGTTGTTCTTATGCAACATTATCCTGGCACTAGAAAAAT | CA2659622947 | NAT8 | c.548_549insATTTTTCTAGTGCCAGGATAATGTTGCATAAGAACAACCACCAAATGAAACAAATATTTATTTAG (p.Ala184PhefsTer3) | gnomAD v4 |
2 | g.73641081G>A | CA347286859 | NAT8 | c.548C>T (p.Ser183Phe) | |
2 | g.73641081G>C | CA347286863 | NAT8 | c.548C>G (p.Ser183Cys) | |
2 | g.73641081G>T | CA347286866 | NAT8 | c.548C>A (p.Ser183Tyr) | |
2 | g.73641082A>C | CA347286869 | NAT8 | c.547T>G (p.Ser183Ala) | |
2 | g.73641082A>G | CA347286872 | NAT8 | c.547T>C (p.Ser183Pro) | |
2 | g.73641082A>T | CA347286875 | NAT8 | c.547T>A (p.Ser183Thr) | |
2 | g.73641083G>A | CA427024544 | ALMS1P1,NAT8 | c.546C>T (p.Leu182=) n.1G>A | |
2 | g.73641083G>C | CA50371094 | ALMS1P1,NAT8 | c.546C>G (p.Leu182=) n.1G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641083G= | CA1261057147 | ALMS1P1,NAT8 | c.546C= (p.Leu182=) n.1G= | |
2 | g.73641083G>T | CA427024545 | ALMS1P1,NAT8 | c.546C>A (p.Leu182=) n.1G>T | |
2 | g.73641084A>C | CA347286879 | ALMS1P1,NAT8 | c.545T>G (p.Leu182Arg) n.2A>C | |
2 | g.73641084A>G | CA347286883 | ALMS1P1,NAT8 | c.545T>C (p.Leu182Pro) n.2A>G | |
2 | g.73641084A>T | CA347286886 | ALMS1P1,NAT8 | c.545T>A (p.Leu182His) n.2A>T | |
2 | g.73641085G>A | CA347286891 | ALMS1P1,NAT8 | c.544C>T (p.Leu182Phe) n.3G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641085G>C | CA347286894 | ALMS1P1,NAT8 | c.544C>G (p.Leu182Val) n.3G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641085G= | CA1261057148 | ALMS1P1,NAT8 | c.544C= (p.Leu182=) n.3G= | |
2 | g.73641085G>T | CA347286896 | ALMS1P1,NAT8 | c.544C>A (p.Leu182Ile) n.3G>T | |
2 | g.73641086C>A | CA347286900 | ALMS1P1,NAT8 | c.543G>T (p.Gln181His) n.4C>A | |
2 | g.73641086C>G | CA347286899 | ALMS1P1,NAT8 | c.543G>C (p.Gln181His) n.4C>G | |
2 | g.73641086C>T | CA427024556 | ALMS1P1,NAT8 | c.543G>A (p.Gln181=) n.4C>T | |
2 | g.73641087T>A | CA347286901 | ALMS1P1,NAT8 | c.542A>T (p.Gln181Leu) n.5T>A | |
2 | g.73641087T>C | CA347286902 | ALMS1P1,NAT8 | c.542A>G (p.Gln181Arg) n.5T>C | |
2 | g.73641087T>G | CA347286903 | ALMS1P1,NAT8 | c.542A>C (p.Gln181Pro) n.5T>G | gnomAD v4 |
2 | g.73641088G>A | CA347286906 | ALMS1P1,NAT8 | c.541C>T (p.Gln181Ter) n.6G>A | gnomAD v4 |
2 | g.73641088G>C | CA347286907 | ALMS1P1,NAT8 | c.541C>G (p.Gln181Glu) n.6G>C | |
2 | g.73641088G>T | CA347286909 | ALMS1P1,NAT8 | c.541C>A (p.Gln181Lys) n.6G>T | |
2 | g.73641089G>A | CA427024564 | ALMS1P1,NAT8 | c.540C>T (p.Ile180=) n.7G>A | gnomAD v4 |
2 | g.73641089G>C | CA347286912 | ALMS1P1,NAT8 | c.540C>G (p.Ile180Met) n.7G>C | gnomAD v4 |
2 | g.73641089G>T | CA427024563 | ALMS1P1,NAT8 | c.540C>A (p.Ile180=) n.7G>T | |
2 | g.73641090A>C | CA347286916 | ALMS1P1,NAT8 | c.539T>G (p.Ile180Ser) n.8A>C | |
2 | g.73641090A>G | CA347286919 | ALMS1P1,NAT8 | c.539T>C (p.Ile180Thr) n.8A>G | |
2 | g.73641090A>T | CA347286921 | ALMS1P1,NAT8 | c.539T>A (p.Ile180Asn) n.8A>T | gnomAD v4 |
2 | g.73641091T>A | CA347286923 | ALMS1P1,NAT8 | c.538A>T (p.Ile180Phe) n.9T>A | |
2 | g.73641091T>C | CA347286925 | ALMS1P1,NAT8 | c.538A>G (p.Ile180Val) n.9T>C | gnomAD v4 |
2 | g.73641091T>G | CA347286928 | ALMS1P1,NAT8 | c.538A>C (p.Ile180Leu) n.9T>G | |
2 | g.73641092G>A | CA1715666 | ALMS1P1,NAT8 | c.537C>T (p.Thr179=) n.10G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641092G>C | CA427024277 | ALMS1P1,NAT8 | c.537C>G (p.Thr179=) n.10G>C | |
2 | g.73641092G= | CA1261057149 | ALMS1P1,NAT8 | c.537C= (p.Thr179=) n.10G= | |
2 | g.73641092G>T | CA427024278 | ALMS1P1,NAT8 | c.537C>A (p.Thr179=) n.10G>T | |
2 | g.73641093G>A | CA1715667 | ALMS1P1,NAT8 | c.536C>T (p.Thr179Ile) n.11G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641093G>C | CA347286932 | ALMS1P1,NAT8 | c.536C>G (p.Thr179Ser) n.11G>C | |
2 | g.73641093G= | CA1261057150 | ALMS1P1,NAT8 | c.536C= (p.Thr179=) n.11G= | |
2 | g.73641093G>T | CA50371112 | ALMS1P1,NAT8 | c.536C>A (p.Thr179Asn) n.11G>T | dbSNP gnomAD v4 |
2 | g.73641094T>A | CA347286939 | ALMS1P1,NAT8 | c.535A>T (p.Thr179Ser) n.12T>A | |
2 | g.73641094T>C | CA347286940 | ALMS1P1,NAT8 | c.535A>G (p.Thr179Ala) n.12T>C | dbSNP |
2 | g.73641094T>G | CA347286943 | ALMS1P1,NAT8 | c.535A>C (p.Thr179Pro) n.12T>G | |
2 | g.73641094T= | CA1261057151 | ALMS1P1,NAT8 | c.535A= (p.Thr179=) n.12T= | |
2 | g.73641095G>A | CA427024282 | ALMS1P1,NAT8 | c.534C>T (p.Gly178=) n.13G>A | gnomAD v4 |
2 | g.73641095G>C | CA427024284 | ALMS1P1,NAT8 | c.534C>G (p.Gly178=) n.13G>C | |
2 | g.73641095G>T | CA427024285 | ALMS1P1,NAT8 | c.534C>A (p.Gly178=) n.13G>T | |
2 | g.73641096C>A | CA347286947 | ALMS1P1,NAT8 | c.533G>T (p.Gly178Val) n.14C>A | |
2 | g.73641096C= | CA1261057152 | ALMS1P1,NAT8 | c.533G= (p.Gly178=) n.14C= | |
2 | g.73641096C>G | CA347286951 | ALMS1P1,NAT8 | c.533G>C (p.Gly178Ala) n.14C>G | |
2 | g.73641096C>T | CA1715668 | ALMS1P1,NAT8 | c.533G>A (p.Gly178Asp) n.14C>T | dbSNP ExAC gnomAD v2 |
2 | g.73641097C>A | CA1715670 | ALMS1P1,NAT8 | c.532G>T (p.Gly178Cys) n.15C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641097C= | CA1261057153 | ALMS1P1,NAT8 | c.532G= (p.Gly178=) n.15C= | |
2 | g.73641097C>G | CA1715669 | ALMS1P1,NAT8 | c.532G>C (p.Gly178Arg) n.15C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641097C>T | CA50371141 | ALMS1P1,NAT8 | c.532G>A (p.Gly178Ser) n.15C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641098G>A | CA1715671 | ALMS1P1,NAT8 | c.531C>T (p.Thr177=) n.16G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641098G>C | CA427024288 | ALMS1P1,NAT8 | c.531C>G (p.Thr177=) n.16G>C | |
2 | g.73641098G= | CA1261057154 | ALMS1P1,NAT8 | c.531C= (p.Thr177=) n.16G= | |
2 | g.73641098G>T | CA427024289 | ALMS1P1,NAT8 | c.531C>A (p.Thr177=) n.16G>T | |
2 | g.73641099G>A | CA1715672 | ALMS1P1,NAT8 | c.530C>T (p.Thr177Ile) n.17G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641099G>C | CA347286963 | ALMS1P1,NAT8 | c.530C>G (p.Thr177Ser) n.17G>C | |
2 | g.73641099G= | CA1261057155 | ALMS1P1,NAT8 | c.530C= (p.Thr177=) n.17G= | |
2 | g.73641099G>T | CA347286964 | ALMS1P1,NAT8 | c.530C>A (p.Thr177Asn) n.17G>T | |
2 | g.73641100T>A | CA347286966 | ALMS1P1,NAT8 | c.529A>T (p.Thr177Ser) n.18T>A | |
2 | g.73641100T>C | CA347286969 | ALMS1P1,NAT8 | c.529A>G (p.Thr177Ala) n.18T>C | |
2 | g.73641100T>G | CA1715673 | ALMS1P1,NAT8 | c.529A>C (p.Thr177Pro) n.18T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641100T= | CA1261057156 | ALMS1P1,NAT8 | c.529A= (p.Thr177=) n.18T= | |
2 | g.73641101del | CA2659622948 | ALMS1P1,NAT8 | c.528del (p.Asp176GlufsTer?) n.19del | gnomAD v4 |
2 | g.73641101G>A | CA427024293 | ALMS1P1,NAT8 | c.528C>T (p.Asp176=) n.19G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641101G>C | CA347286972 | ALMS1P1,NAT8 | c.528C>G (p.Asp176Glu) n.19G>C | |
2 | g.73641101G= | CA1261057157 | ALMS1P1,NAT8 | c.528C= (p.Asp176=) n.19G= | |
2 | g.73641101G>T | CA347286975 | ALMS1P1,NAT8 | c.528C>A (p.Asp176Glu) n.19G>T | |
2 | g.73641102T>A | CA347286979 | ALMS1P1,NAT8 | c.527A>T (p.Asp176Val) n.20T>A | |
2 | g.73641102T>C | CA50371148 | ALMS1P1,NAT8 | c.527A>G (p.Asp176Gly) n.20T>C | ClinVar dbSNP gnomAD v4 |
2 | g.73641102T>G | CA347286984 | ALMS1P1,NAT8 | c.527A>C (p.Asp176Ala) n.20T>G | |
2 | g.73641102T= | CA1261057158 | ALMS1P1,NAT8 | c.527A= (p.Asp176=) n.20T= | |
2 | g.73641103C>A | CA347286987 | ALMS1P1,NAT8 | c.526G>T (p.Asp176Tyr) n.21C>A | |
2 | g.73641103C>G | CA347286990 | ALMS1P1,NAT8 | c.526G>C (p.Asp176His) n.21C>G | |
2 | g.73641103C>T | CA347286992 | ALMS1P1,NAT8 | c.526G>A (p.Asp176Asn) n.21C>T | |
2 | g.73641104C>A | CA427024298 | ALMS1P1,NAT8 | c.525G>T (p.Leu175=) n.22C>A | |
2 | g.73641104C>G | CA427024299 | ALMS1P1,NAT8 | c.525G>C (p.Leu175=) n.22C>G | |
2 | g.73641104C>T | CA427024300 | ALMS1P1,NAT8 | c.525G>A (p.Leu175=) n.22C>T | gnomAD v4 |
2 | g.73641105A>C | CA347286995 | ALMS1P1,NAT8 | c.524T>G (p.Leu175Arg) n.23A>C | |
2 | g.73641105A>G | CA347286996 | ALMS1P1,NAT8 | c.524T>C (p.Leu175Pro) n.23A>G | |
2 | g.73641105A>T | CA347286998 | ALMS1P1,NAT8 | c.524T>A (p.Leu175Gln) n.23A>T | |
2 | g.73641106G>A | CA427024304 | ALMS1P1,NAT8 | c.523C>T (p.Leu175=) n.24G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641106G>C | CA347287002 | ALMS1P1,NAT8 | c.523C>G (p.Leu175Val) n.24G>C | gnomAD v4 |
2 | g.73641106G= | CA1261057159 | ALMS1P1,NAT8 | c.523C= (p.Leu175=) n.24G= | |
2 | g.73641106G>T | CA347287001 | ALMS1P1,NAT8 | c.523C>A (p.Leu175Met) n.24G>T | |
2 | g.73641107G>A | CA427024305 | ALMS1P1,NAT8 | c.522C>T (p.Ile174=) n.25G>A | |
2 | g.73641107G>C | CA347287005 | ALMS1P1,NAT8 | c.522C>G (p.Ile174Met) n.25G>C | |
2 | g.73641107G>T | CA427024306 | ALMS1P1,NAT8 | c.522C>A (p.Ile174=) n.25G>T | |
2 | g.73641108A= | CA1261057160 | ALMS1P1,NAT8 | c.521T= (p.Ile174=) n.26A= | |
2 | g.73641108A>C | CA347287007 | ALMS1P1,NAT8 | c.521T>G (p.Ile174Ser) n.26A>C | |
2 | g.73641108A>G | CA1715674 | ALMS1P1,NAT8 | c.521T>C (p.Ile174Thr) n.26A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641108A>T | CA347287009 | ALMS1P1,NAT8 | c.521T>A (p.Ile174Asn) n.26A>T | |
2 | g.73641109T>A | CA347287011 | ALMS1P1,NAT8 | c.520A>T (p.Ile174Phe) n.27T>A | gnomAD v4 |
2 | g.73641109T>C | CA1715675 | ALMS1P1,NAT8 | c.520A>G (p.Ile174Val) n.27T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641109T>G | CA347287013 | ALMS1P1,NAT8 | c.520A>C (p.Ile174Leu) n.27T>G | dbSNP |
2 | g.73641109T= | CA1261057161 | ALMS1P1,NAT8 | c.520A= (p.Ile174=) n.27T= | |
2 | g.73641110A>C | CA427024313 | ALMS1P1,NAT8 | c.519T>G (p.Val173=) n.28A>C | |
2 | g.73641110A>G | CA427024311 | ALMS1P1,NAT8 | c.519T>C (p.Val173=) n.28A>G | |
2 | g.73641110A>T | CA427024312 | ALMS1P1,NAT8 | c.519T>A (p.Val173=) n.28A>T | |
2 | g.73641111A>C | CA347287016 | ALMS1P1,NAT8 | c.518T>G (p.Val173Gly) n.29A>C | |
2 | g.73641111A>G | CA347287014 | ALMS1P1,NAT8 | c.518T>C (p.Val173Ala) n.29A>G | |
2 | g.73641111A>T | CA347287015 | ALMS1P1,NAT8 | c.518T>A (p.Val173Asp) n.29A>T | |
2 | g.73641112C>A | CA347287018 | ALMS1P1,NAT8 | c.517G>T (p.Val173Phe) n.30C>A | |
2 | g.73641112C= | CA1261057162 | ALMS1P1,NAT8 | c.517G= (p.Val173=) n.30C= | |
2 | g.73641112C>G | CA347287020 | ALMS1P1,NAT8 | c.517G>C (p.Val173Leu) n.30C>G | dbSNP |
2 | g.73641112C>T | CA347287021 | ALMS1P1,NAT8 | c.517G>A (p.Val173Ile) n.30C>T | |
2 | g.73641113T>A | CA347287022 | ALMS1P1,NAT8 | c.516A>T (p.Glu172Asp) n.31T>A | |
2 | g.73641113T>C | CA427024322 | ALMS1P1,NAT8 | c.516A>G (p.Glu172=) n.31T>C | |
2 | g.73641113T>G | CA347287024 | ALMS1P1,NAT8 | c.516A>C (p.Glu172Asp) n.31T>G | |
2 | g.73641114T>A | CA347287027 | ALMS1P1,NAT8 | c.515A>T (p.Glu172Val) n.32T>A | |
2 | g.73641114T>C | CA347287030 | ALMS1P1,NAT8 | c.515A>G (p.Glu172Gly) n.32T>C | |
2 | g.73641114T>G | CA347287028 | ALMS1P1,NAT8 | c.515A>C (p.Glu172Ala) n.32T>G | |
2 | g.73641115C>A | CA1715676 | ALMS1P1,NAT8 | c.514G>T (p.Glu172Ter) n.33C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641115C= | CA1261057163 | ALMS1P1,NAT8 | c.514G= (p.Glu172=) n.33C= | |
2 | g.73641115C>G | CA347287033 | ALMS1P1,NAT8 | c.514G>C (p.Glu172Gln) n.33C>G | |
2 | g.73641115C>T | CA347287034 | ALMS1P1,NAT8 | c.514G>A (p.Glu172Lys) n.33C>T | dbSNP |
2 | g.73641116A>C | CA347287036 | ALMS1P1,NAT8 | c.513T>G (p.Ser171Arg) n.34A>C | |
2 | g.73641116A>G | CA427024328 | ALMS1P1,NAT8 | c.513T>C (p.Ser171=) n.34A>G | |
2 | g.73641116A>T | CA347287037 | ALMS1P1,NAT8 | c.513T>A (p.Ser171Arg) n.34A>T | |
2 | g.73641117C>A | CA347287038 | ALMS1P1,NAT8 | c.512G>T (p.Ser171Ile) n.35C>A | |
2 | g.73641117C= | CA1261057164 | ALMS1P1,NAT8 | c.512G= (p.Ser171=) n.35C= | |
2 | g.73641117C>G | CA347287039 | ALMS1P1,NAT8 | c.512G>C (p.Ser171Thr) n.35C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641117C>T | CA347287040 | ALMS1P1,NAT8 | c.512G>A (p.Ser171Asn) n.35C>T | gnomAD v4 |
2 | g.73641118T>A | CA347287043 | ALMS1P1,NAT8 | c.511A>T (p.Ser171Cys) n.36T>A | |
2 | g.73641118T>C | CA347287044 | ALMS1P1,NAT8 | c.511A>G (p.Ser171Gly) n.36T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641118T>G | CA347287046 | ALMS1P1,NAT8 | c.511A>C (p.Ser171Arg) n.36T>G | |
2 | g.73641118T= | CA1261057165 | ALMS1P1,NAT8 | c.511A= (p.Ser171=) n.36T= | |
2 | g.73641119G>A | CA1715677 | ALMS1P1,NAT8 | c.510C>T (p.Tyr170=) n.37G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641119G>C | CA347287049 | ALMS1P1,NAT8 | c.510C>G (p.Tyr170Ter) n.37G>C | |
2 | g.73641119G= | CA1261057166 | ALMS1P1,NAT8 | c.510C= (p.Tyr170=) n.37G= | |
2 | g.73641119G>T | CA347287047 | ALMS1P1,NAT8 | c.510C>A (p.Tyr170Ter) n.37G>T | |
2 | g.73641120T>A | CA347287052 | ALMS1P1,NAT8 | c.509A>T (p.Tyr170Phe) n.38T>A | |
2 | g.73641120T>C | CA347287054 | ALMS1P1,NAT8 | c.509A>G (p.Tyr170Cys) n.38T>C | |
2 | g.73641120T>G | CA347287053 | ALMS1P1,NAT8 | c.509A>C (p.Tyr170Ser) n.38T>G | |
2 | g.73641121A= | CA1261057167 | ALMS1P1,NAT8 | c.508T= (p.Tyr170=) n.39A= | |
2 | g.73641121A>C | CA347287057 | ALMS1P1,NAT8 | c.508T>G (p.Tyr170Asp) n.39A>C | |
2 | g.73641121A>G | CA347287058 | ALMS1P1,NAT8 | c.508T>C (p.Tyr170His) n.39A>G | dbSNP |
2 | g.73641121A>T | CA347287060 | ALMS1P1,NAT8 | c.508T>A (p.Tyr170Asn) n.39A>T | |
2 | g.73641122G>A | CA427024335 | ALMS1P1,NAT8 | c.507C>T (p.Gly169=) n.40G>A | gnomAD v4 COSMIC |
2 | g.73641122G>C | CA427024336 | ALMS1P1,NAT8 | c.507C>G (p.Gly169=) n.40G>C | |
2 | g.73641122G= | CA1261057168 | ALMS1P1,NAT8 | c.507C= (p.Gly169=) n.40G= | |
2 | g.73641122G>T | CA1715678 | ALMS1P1,NAT8 | c.507C>A (p.Gly169=) n.40G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641123C>A | CA347287063 | ALMS1P1,NAT8 | c.506G>T (p.Gly169Val) n.41C>A | dbSNP |
2 | g.73641123C= | CA1261057169 | ALMS1P1,NAT8 | c.506G= (p.Gly169=) n.41C= | |
2 | g.73641123C>G | CA347287065 | ALMS1P1,NAT8 | c.506G>C (p.Gly169Ala) n.41C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641123C>T | CA1715679 | ALMS1P1,NAT8 | c.506G>A (p.Gly169Asp) n.41C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641124C>A | CA347287072 | ALMS1P1,NAT8 | c.505G>T (p.Gly169Cys) n.42C>A | |
2 | g.73641124C>G | CA347287069 | ALMS1P1,NAT8 | c.505G>C (p.Gly169Arg) n.42C>G | |
2 | g.73641124C>T | CA347287070 | ALMS1P1,NAT8 | c.505G>A (p.Gly169Ser) n.42C>T | |
2 | g.73641125C>A | CA347287074 | ALMS1P1,NAT8 | c.504G>T (p.Gln168His) n.43C>A | |
2 | g.73641125C>G | CA347287076 | ALMS1P1,NAT8 | c.504G>C (p.Gln168His) n.43C>G | |
2 | g.73641125C>T | CA427024341 | ALMS1P1,NAT8 | c.504G>A (p.Gln168=) n.43C>T | |
2 | g.73641126T>A | CA347287079 | ALMS1P1,NAT8 | c.503A>T (p.Gln168Leu) n.44T>A | |
2 | g.73641126T>C | CA347287081 | ALMS1P1,NAT8 | c.503A>G (p.Gln168Arg) n.44T>C | |
2 | g.73641126T>G | CA347287082 | ALMS1P1,NAT8 | c.503A>C (p.Gln168Pro) n.44T>G | |
2 | g.73641127G>A | CA50371195 | ALMS1P1,NAT8 | c.502C>T (p.Gln168Ter) n.45G>A | dbSNP gnomAD v4 |
2 | g.73641127G>C | CA347287085 | ALMS1P1,NAT8 | c.502C>G (p.Gln168Glu) n.45G>C | |
2 | g.73641127G= | CA1261057170 | ALMS1P1,NAT8 | c.502C= (p.Gln168=) n.45G= | |
2 | g.73641127G>T | CA347287084 | ALMS1P1,NAT8 | c.502C>A (p.Gln168Lys) n.45G>T | |
2 | g.73641128G>A | CA427024348 | ALMS1P1,NAT8 | c.501C>T (p.Asp167=) n.46G>A | |
2 | g.73641128G>C | CA347287087 | ALMS1P1,NAT8 | c.501C>G (p.Asp167Glu) n.46G>C | |
2 | g.73641128G>T | CA347287088 | ALMS1P1,NAT8 | c.501C>A (p.Asp167Glu) n.46G>T | |
2 | g.73641129T>A | CA347287091 | ALMS1P1,NAT8 | c.500A>T (p.Asp167Val) n.47T>A | |
2 | g.73641129T>C | CA347287092 | ALMS1P1,NAT8 | c.500A>G (p.Asp167Gly) n.47T>C | gnomAD v4 |
2 | g.73641129T>G | CA347287094 | ALMS1P1,NAT8 | c.500A>C (p.Asp167Ala) n.47T>G | |
2 | g.73641130C>A | CA347287096 | ALMS1P1,NAT8 | c.499G>T (p.Asp167Tyr) n.48C>A | |
2 | g.73641130C>G | CA347287098 | ALMS1P1,NAT8 | c.499G>C (p.Asp167His) n.48C>G | |
2 | g.73641130C>T | CA347287099 | ALMS1P1,NAT8 | c.499G>A (p.Asp167Asn) n.48C>T | gnomAD v4 |
2 | g.73641131C>A | CA427024352 | ALMS1P1,NAT8 | c.498G>T (p.Arg166=) n.49C>A | |
2 | g.73641131C>G | CA427024353 | ALMS1P1,NAT8 | c.498G>C (p.Arg166=) n.49C>G | |
2 | g.73641131C>T | CA427024354 | ALMS1P1,NAT8 | c.498G>A (p.Arg166=) n.49C>T | |
2 | g.73641132C>A | CA347287102 | ALMS1P1,NAT8 | c.497G>T (p.Arg166Leu) n.50C>A | |
2 | g.73641132C= | CA1261057171 | ALMS1P1,NAT8 | c.497G= (p.Arg166=) n.50C= | |
2 | g.73641132C>G | CA347287104 | ALMS1P1,NAT8 | c.497G>C (p.Arg166Pro) n.50C>G | gnomAD v4 |
2 | g.73641132C>T | CA1715680 | ALMS1P1,NAT8 | c.497G>A (p.Arg166Gln) n.50C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.73641133G>A | CA1715682 | ALMS1P1,NAT8 | c.496C>T (p.Arg166Trp) n.51G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.73641133G>C | CA347287107 | ALMS1P1,NAT8 | c.496C>G (p.Arg166Gly) n.51G>C | |
2 | g.73641133G= | CA1261057172 | ALMS1P1,NAT8 | c.496C= (p.Arg166=) n.51G= | |
2 | g.73641133G>T | CA1715681 | ALMS1P1,NAT8 | c.496C>A (p.Arg166=) n.51G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641134G>A | CA427024362 | ALMS1P1,NAT8 | c.495C>T (p.Ala165=) n.52G>A | |
2 | g.73641134G>C | CA427024363 | ALMS1P1,NAT8 | c.495C>G (p.Ala165=) n.52G>C | |
2 | g.73641134G>T | CA427024364 | ALMS1P1,NAT8 | c.495C>A (p.Ala165=) n.52G>T | |
2 | g.73641135G>A | CA1715683 | ALMS1P1,NAT8 | c.494C>T (p.Ala165Val) n.53G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.73641135G>C | CA347287113 | ALMS1P1,NAT8 | c.494C>G (p.Ala165Gly) n.53G>C | |
2 | g.73641135G= | CA1261057173 | ALMS1P1,NAT8 | c.494C= (p.Ala165=) n.53G= | |
2 | g.73641135G>T | CA347287115 | ALMS1P1,NAT8 | c.494C>A (p.Ala165Asp) n.53G>T | gnomAD v4 |
2 | g.73641136C>A | CA1715684 | ALMS1P1,NAT8 | c.493G>T (p.Ala165Ser) n.54C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641136C= | CA1261057174 | ALMS1P1,NAT8 | c.493G= (p.Ala165=) n.54C= | |
2 | g.73641136C>G | CA347287117 | ALMS1P1,NAT8 | c.493G>C (p.Ala165Pro) n.54C>G | |
2 | g.73641136C>T | CA347287119 | ALMS1P1,NAT8 | c.493G>A (p.Ala165Thr) n.54C>T | COSMIC |
2 | g.73641137A>C | CA347287120 | ALMS1P1,NAT8 | c.492T>G (p.Phe164Leu) n.55A>C | |
2 | g.73641137A>G | CA427024371 | ALMS1P1,NAT8 | c.492T>C (p.Phe164=) n.55A>G | |
2 | g.73641137A>T | CA347287122 | ALMS1P1,NAT8 | c.492T>A (p.Phe164Leu) n.55A>T |