|
ENST00000506344.6:c.11022T>C
|
ENSP00000422888.2:p.His3674=
|
|
|
ENST00000705785.1:c.4707T>C
|
ENSP00000516169.1:p.His1569=
|
|
|
ENST00000510275.8:c.1308T>C
|
ENSP00000421023.4:p.His436=
|
|
|
ENST00000612754.2:c.1806T>C
|
ENSP00000482888.2:p.His602=
|
|
|
ENST00000681990.1:n.2263T>C
|
|
|
|
ENST00000682049.1:n.1471T>C
|
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ENST00000682959.1:n.2215T>C
|
|
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|
ENST00000683389.1:n.1044T>C
|
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ENST00000683826.1:n.3006T>C
|
|
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ENST00000683908.1:n.1380T>C
|
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ENST00000683972.1:n.7726T>C
|
|
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ENST00000684225.1:n.2352T>C
|
|
|
|
ENST00000684470.1:n.2770T>C
|
|
|
|
ENST00000357077.9:c.10881T>C
MANE Select
|
ENSP00000349588.4:p.His3627=
|
|
|
ENST00000503423.6:c.10719T>C
|
ENSP00000421011.2:p.His3573=
|
|
|
ENST00000505342.6:c.2013T>C
|
ENSP00000422498.2:p.His671=
|
|
|
ENST00000510275.7:c.336T>C
|
ENSP00000421023.3:p.His112=
|
|
|
ENST00000671704.1:c.4440T>C
|
ENSP00000500926.1:p.His1480=
|
|
|
ENST00000671727.1:c.4527T>C
|
ENSP00000500102.1:p.His1509=
|
|
|
ENST00000671756.1:c.4464T>C
|
ENSP00000500712.1:p.His1488=
|
|
|
ENST00000671762.1:c.4662T>C
|
ENSP00000500954.1:p.His1554=
|
|
|
ENST00000671793.1:c.4563T>C
|
ENSP00000499928.1:p.His1521=
|
|
|
ENST00000671809.1:c.10755T>C
|
ENSP00000500872.1:p.His3585=
|
|
|
ENST00000671825.1:c.4563T>C
|
ENSP00000500459.1:p.His1521=
|
|
|
ENST00000671854.1:c.4365T>C
|
ENSP00000500833.1:p.His1455=
|
|
|
ENST00000671863.1:c.*119T>C
|
ENSP00000500855.1:n.*119T>C
|
|
|
ENST00000671882.1:c.10698T>C
|
ENSP00000499887.1:p.His3566=
|
|
|
ENST00000671893.1:c.4242T>C
|
ENSP00000499986.1:p.His1414=
|
|
|
ENST00000671906.1:c.10695T>C
|
ENSP00000499953.1:p.His3565=
|
|
|
ENST00000671951.1:c.4341T>C
|
ENSP00000500528.1:p.His1447=
|
|
|
ENST00000671971.1:c.10926T>C
|
ENSP00000499832.1:p.His3642=
|
|
|
ENST00000672045.1:c.4464T>C
|
ENSP00000499959.1:p.His1488=
|
|
|
ENST00000672068.1:c.10719T>C
|
ENSP00000499902.1:p.His3573=
|
|
|
ENST00000672088.1:c.4440T>C
|
ENSP00000499837.1:p.His1480=
|
|
|
ENST00000672090.1:c.10719T>C
|
ENSP00000500540.1:p.His3573=
|
|
|
ENST00000672177.1:c.4476T>C
|
ENSP00000500918.1:p.His1492=
|
|
|
ENST00000672209.1:c.10719T>C
|
ENSP00000499982.1:p.His3573=
|
|
|
ENST00000672221.1:c.4461T>C
|
ENSP00000500473.1:p.His1487=
|
|
|
ENST00000672240.1:c.10962T>C
|
ENSP00000500548.1:p.His3654=
|
|
|
ENST00000672246.1:c.4449T>C
|
ENSP00000499990.1:p.His1483=
|
|
|
ENST00000672251.1:c.10683T>C
|
ENSP00000500580.1:p.His3561=
|
|
|
ENST00000672312.1:c.4464T>C
|
ENSP00000500378.1:p.His1488=
|
|
|
ENST00000672315.1:c.4563T>C
|
ENSP00000500780.1:p.His1521=
|
|
|
ENST00000672350.1:c.4401T>C
|
ENSP00000500420.1:p.His1467=
|
|
|
ENST00000672356.1:c.4341T>C
|
ENSP00000500544.1:p.His1447=
|
|
|
ENST00000672362.1:c.4599T>C
|
ENSP00000500522.1:p.His1533=
|
|
|
ENST00000672366.1:c.4527T>C
|
ENSP00000500937.1:p.His1509=
|
|
|
ENST00000672402.1:c.4563T>C
|
ENSP00000500881.1:p.His1521=
|
|
|
ENST00000672411.1:c.2190T>C
|
ENSP00000499979.1:p.His730=
|
|
|
ENST00000672502.1:c.10782T>C
|
ENSP00000499870.1:p.His3594=
|
|
|
ENST00000672684.1:c.4365T>C
|
ENSP00000499943.1:p.His1455=
|
|
|
ENST00000672696.1:c.4563T>C
|
ENSP00000499828.1:p.His1521=
|
|
|
ENST00000672731.1:c.4440T>C
|
ENSP00000500908.1:p.His1480=
|
|
|
ENST00000672759.1:c.4341T>C
|
ENSP00000499881.1:p.His1447=
|
|
|
ENST00000672779.1:c.4671T>C
|
ENSP00000499869.1:p.His1557=
|
|
|
ENST00000672793.1:c.4464T>C
|
ENSP00000500150.1:p.His1488=
|
|
|
ENST00000672830.1:c.10818T>C
|
ENSP00000500222.1:p.His3606=
|
|
|
ENST00000672854.1:c.4428T>C
|
ENSP00000500311.1:p.His1476=
|
|
|
ENST00000672880.1:c.4464T>C
|
ENSP00000500866.1:p.His1488=
|
|
|
ENST00000672915.1:c.2013T>C
|
ENSP00000500622.1:p.His671=
|
|
|
ENST00000672930.1:c.10719T>C
|
ENSP00000499913.1:p.His3573=
|
|
|
ENST00000672934.1:c.10620T>C
|
ENSP00000500645.1:p.His3540=
|
|
|
ENST00000672955.1:c.4440T>C
|
ENSP00000500527.1:p.His1480=
|
|
|
ENST00000672965.1:c.4500T>C
|
ENSP00000499891.1:p.His1500=
|
|
|
ENST00000672986.1:c.4044T>C
|
ENSP00000499967.1:p.His1348=
|
|
|
ENST00000672990.1:c.4500T>C
|
ENSP00000500275.1:p.His1500=
|
|
|
ENST00000673044.1:c.4563T>C
|
ENSP00000500933.1:p.His1521=
|
|
|
ENST00000673048.1:c.2175T>C
|
ENSP00000500832.1:p.His725=
|
|
|
ENST00000673109.1:c.10596T>C
|
ENSP00000500265.1:p.His3532=
|
|
|
ENST00000673231.1:c.2190T>C
|
ENSP00000500111.1:p.His730=
|
|
|
ENST00000673240.1:c.4671T>C
|
ENSP00000499996.1:p.His1557=
|
|
|
ENST00000673255.1:c.4464T>C
|
ENSP00000500423.1:p.His1488=
|
|
|
ENST00000673298.1:c.10719T>C
|
ENSP00000500245.1:p.His3573=
|
|
|
ENST00000673334.1:c.10719T>C
|
ENSP00000500854.1:p.His3573=
|
|
|
ENST00000673353.1:c.2154T>C
|
ENSP00000500007.1:p.His718=
|
|
|
ENST00000673363.1:c.10827T>C
|
ENSP00000500539.1:p.His3609=
|
|
|
ENST00000673430.1:c.4464T>C
|
ENSP00000500269.1:p.His1488=
|
|
|
ENST00000673453.1:c.4392T>C
|
ENSP00000500112.1:p.His1464=
|
|
|
ENST00000673536.1:c.4134T>C
|
ENSP00000500524.1:p.His1378=
|
|
|
ENST00000673538.1:c.*119T>C
|
ENSP00000500842.1:n.*119T>C
|
|
|
ENST00000673546.1:c.4401T>C
|
ENSP00000500843.1:p.His1467=
|
|
|
ENST00000673555.1:c.10719T>C
|
ENSP00000500947.1:p.His3573=
|
|
|
ENST00000673573.1:c.10656T>C
|
ENSP00000500883.1:p.His3552=
|
|
|
ENST00000264366.10:c.10782T>C
|
ENSP00000264366.6:p.His3594=
|
|
|
ENST00000357077.8:c.10881T>C
|
ENSP00000349588.4:p.His3627=
|
|
|
ENST00000394537.7:c.4626T>C
|
ENSP00000378044.3:p.His1542=
|
|
|
ENST00000505342.5:c.1911T>C
|
ENSP00000422498.1:p.His637=
|
|
|
ENST00000506722.5:c.4599T>C
|
ENSP00000421067.1:p.His1533=
|
|
|
ENST00000508007.5:n.735T>C
|
|
|
|
ENST00000509550.5:c.2154T>C
|
ENSP00000426944.1:p.His718=
|
|
|
ENST00000510275.6:c.582T>C
|
ENSP00000421023.2:p.His194=
|
|
|
ENST00000514960.5:c.1630T>C
|
|
|
|
ENST00000612754.1:c.*2242T>C
|
ENSP00000482888.1:n.*2242T>C
|
|
|
NM_001127493.1:c.4599T>C , LRG_327t2:c.4599T>C
|
NP_001120965.1:p.His1533=
|
|
|
NM_001148.4:c.10881T>C , LRG_327t1:c.10881T>C
|
NP_001139.3:p.His3627=
|
|
|
NM_020977.3:c.4626T>C
|
NP_066187.2:p.His1542=
|
|
|
XM_005262942.3:c.10914T>C
|
XP_005262999.1:p.His3638=
|
|
|
XM_005262945.1:c.10782T>C
|
XP_005263002.1:p.His3594=
|
|
|
XM_005262948.3:c.4623T>C
|
XP_005263005.1:p.His1541=
|
|
|
XM_006714188.2:c.10968T>C
|
XP_006714251.1:p.His3656=
|
|
|
XM_006714189.2:c.10932T>C
|
XP_006714252.1:p.His3644=
|
|
|
XM_006714190.2:c.4680T>C
|
XP_006714253.1:p.His1560=
|
|
|
XM_006714191.2:c.4713T>C
|
XP_006714254.1:p.His1571=
|
|
|
XM_006714192.2:c.4644T>C
|
XP_006714255.1:p.His1548=
|
|
|
XM_006714193.2:c.4713T>C
|
XP_006714256.1:p.His1571=
|
|
|
XM_006714194.2:c.10908T>C
|
XP_006714257.1:p.His3636=
|
|
|
XM_011531891.1:c.10953T>C
|
XP_011530193.1:p.His3651=
|
|
|
NM_001127493.2:c.4599T>C
|
NP_001120965.1:p.His1533=
|
|
|
NM_001148.5:c.10881T>C
|
NP_001139.3:p.His3627=
|
|
|
NM_001354225.1:c.4638T>C
|
NP_001341154.1:p.His1546=
|
|
|
NM_001354228.1:c.4527T>C
|
NP_001341157.1:p.His1509=
|
|
|
NM_001354230.1:c.4605T>C
|
NP_001341159.1:p.His1535=
|
|
|
NM_001354231.1:c.4668T>C
|
NP_001341160.1:p.His1556=
|
|
|
NM_001354232.1:c.4662T>C
|
NP_001341161.1:p.His1554=
|
|
|
NM_001354235.1:c.4623T>C
|
NP_001341164.1:p.His1541=
|
|
|
NM_001354236.1:c.4524T>C
|
NP_001341165.1:p.His1508=
|
|
|
NM_001354237.1:c.4704T>C
|
NP_001341166.1:p.His1568=
|
|
|
NM_001354239.1:c.4596T>C
|
NP_001341168.1:p.His1532=
|
|
|
NM_001354240.1:c.4671T>C
|
NP_001341169.1:p.His1557=
|
|
|
NM_001354241.1:c.4671T>C
|
NP_001341170.1:p.His1557=
|
|
|
NM_001354242.1:c.4668T>C
|
NP_001341171.1:p.His1556=
|
|
|
NM_001354243.1:c.4563T>C
|
NP_001341172.1:p.His1521=
|
|
|
NM_001354244.1:c.4560T>C
|
NP_001341173.1:p.His1520=
|
|
|
NM_001354245.1:c.4464T>C
|
NP_001341174.1:p.His1488=
|
|
|
NM_001354246.1:c.4623T>C
|
NP_001341175.1:p.His1541=
|
|
|
NM_001354249.1:c.4440T>C
|
NP_001341178.1:p.His1480=
|
|
|
NM_001354252.1:c.4596T>C
|
NP_001341181.1:p.His1532=
|
|
|
NM_001354253.1:c.4401T>C
|
NP_001341182.1:p.His1467=
|
|
|
NM_001354254.1:c.4575T>C
|
NP_001341183.1:p.His1525=
|
|
|
NM_001354255.1:c.4563T>C
|
NP_001341184.1:p.His1521=
|
|
|
NM_001354256.1:c.4560T>C
|
NP_001341185.1:p.His1520=
|
|
|
NM_001354257.1:c.4365T>C
|
NP_001341186.1:p.His1455=
|
|
|
NM_001354258.1:c.4527T>C
|
NP_001341187.1:p.His1509=
|
|
|
NM_001354260.1:c.4341T>C
|
NP_001341189.1:p.His1447=
|
|
|
NM_001354261.1:c.4485T>C
|
NP_001341190.1:p.His1495=
|
|
|
NM_001354262.1:c.4464T>C
|
NP_001341191.1:p.His1488=
|
|
|
NM_001354264.1:c.4461T>C
|
NP_001341193.1:p.His1487=
|
|
|
NM_001354265.1:c.4623T>C
|
NP_001341194.1:p.His1541=
|
|
|
NM_001354266.1:c.4440T>C
|
NP_001341195.1:p.His1480=
|
|
|
NM_001354267.1:c.4440T>C
|
NP_001341196.1:p.His1480=
|
|
|
NM_001354268.1:c.4428T>C
|
NP_001341197.1:p.His1476=
|
|
|
NM_001354269.1:c.4413T>C
|
NP_001341198.1:p.His1471=
|
|
|
NM_001354270.1:c.4401T>C
|
NP_001341199.1:p.His1467=
|
|
|
NM_001354271.1:c.4341T>C
|
NP_001341200.1:p.His1447=
|
|
|
NM_001354272.1:c.4497T>C
|
NP_001341201.1:p.His1499=
|
|
|
NM_001354273.1:c.4326T>C
|
NP_001341202.1:p.His1442=
|
|
|
NM_001354274.1:c.4392T>C
|
NP_001341203.1:p.His1464=
|
|
|
NM_001354275.1:c.4464T>C
|
NP_001341204.1:p.His1488=
|
|
|
NM_001354276.1:c.4440T>C
|
NP_001341205.1:p.His1480=
|
|
|
NM_001354277.1:c.4242T>C
|
NP_001341206.1:p.His1414=
|
|
|
NM_001354278.1:c.2154T>C
|
NP_001341207.1:p.His718=
|
|
|
NM_001354279.1:c.2190T>C
|
NP_001341208.1:p.His730=
|
|
|
NM_001354280.1:c.2175T>C
|
NP_001341209.1:p.His725=
|
|
|
NM_001354281.1:c.2154T>C
|
NP_001341210.1:p.His718=
|
|
|
NM_001354282.1:c.2190T>C
|
NP_001341211.1:p.His730=
|
|
|
NM_020977.4:c.4626T>C
|
NP_066187.2:p.His1542=
|
|
|
XM_005262945.3:c.10782T>C
|
XP_005263002.1:p.His3594=
|
|
|
XM_017008067.1:c.11022T>C
|
XP_016863556.1:p.His3674=
|
|
|
XM_017008069.1:c.10998T>C
|
XP_016863558.1:p.His3666=
|
|
|
XM_017008071.2:c.10908T>C
|
XP_016863560.1:p.His3636=
|
|
|
XM_017008072.2:c.10884T>C
|
XP_016863561.1:p.His3628=
|
|
|
XM_017008073.2:c.10881T>C
|
XP_016863562.1:p.His3627=
|
|
|
XM_017008074.2:c.10854T>C
|
XP_016863563.1:p.His3618=
|
|
|
XM_017008075.2:c.10818T>C
|
XP_016863564.1:p.His3606=
|
|
|
XM_017008076.2:c.10881T>C
|
XP_016863565.1:p.His3627=
|
|
|
XM_017008077.2:c.10695T>C
|
XP_016863566.1:p.His3565=
|
|
|
XM_017008078.2:c.4626T>C
|
XP_016863567.1:p.His1542=
|
|
|
XM_017008080.2:c.4476T>C
|
XP_016863569.1:p.His1492=
|
|
|
XM_024454016.1:c.10917T>C
|
XP_024309784.1:p.His3639=
|
|
|
XM_024454017.1:c.4662T>C
|
XP_024309785.1:p.His1554=
|
|
|
XM_024454018.1:c.4527T>C
|
XP_024309786.1:p.His1509=
|
|
|
XM_024454019.1:c.4605T>C
|
XP_024309787.1:p.His1535=
|
|
|
XM_024454020.1:c.4527T>C
|
XP_024309788.1:p.His1509=
|
|
|
XM_024454021.1:c.4524T>C
|
XP_024309789.1:p.His1508=
|
|
|
XM_024454022.1:c.4464T>C
|
XP_024309790.1:p.His1488=
|
|
|
XM_024454023.1:c.4326T>C
|
XP_024309791.1:p.His1442=
|
|
|
NM_001148.6:c.10881T>C
MANE Select
|
NP_001139.3:p.His3627=
|
|
|
NM_001127493.3:c.4599T>C
|
NP_001120965.1:p.His1533=
|
|
|
NM_001354225.2:c.4638T>C
|
NP_001341154.1:p.His1546=
|
|
|
NM_001354228.2:c.4527T>C
|
NP_001341157.1:p.His1509=
|
|
|
NM_001354230.2:c.4605T>C
|
NP_001341159.1:p.His1535=
|
|
|
NM_001354231.2:c.4668T>C
|
NP_001341160.1:p.His1556=
|
|
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NM_001354232.2:c.4662T>C
|
NP_001341161.1:p.His1554=
|
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NM_001354235.2:c.4623T>C
|
NP_001341164.1:p.His1541=
|
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NM_001354236.2:c.4524T>C
|
NP_001341165.1:p.His1508=
|
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NM_001354237.2:c.4704T>C
|
NP_001341166.1:p.His1568=
|
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NM_001354239.2:c.4596T>C
|
NP_001341168.1:p.His1532=
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NM_001354240.2:c.4671T>C
|
NP_001341169.1:p.His1557=
|
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NM_001354241.2:c.4671T>C
|
NP_001341170.1:p.His1557=
|
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NM_001354242.2:c.4668T>C
|
NP_001341171.1:p.His1556=
|
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NM_001354243.2:c.4563T>C
|
NP_001341172.1:p.His1521=
|
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NM_001354244.2:c.4560T>C
|
NP_001341173.1:p.His1520=
|
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NM_001354245.2:c.4464T>C
|
NP_001341174.1:p.His1488=
|
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NM_001354246.2:c.4623T>C
|
NP_001341175.1:p.His1541=
|
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NM_001354249.2:c.4440T>C
|
NP_001341178.1:p.His1480=
|
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NM_001354252.2:c.4596T>C
|
NP_001341181.1:p.His1532=
|
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NM_001354253.2:c.4401T>C
|
NP_001341182.1:p.His1467=
|
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NM_001354254.2:c.4575T>C
|
NP_001341183.1:p.His1525=
|
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NM_001354255.2:c.4563T>C
|
NP_001341184.1:p.His1521=
|
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NM_001354256.2:c.4560T>C
|
NP_001341185.1:p.His1520=
|
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NM_001354257.2:c.4365T>C
|
NP_001341186.1:p.His1455=
|
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NM_001354258.2:c.4527T>C
|
NP_001341187.1:p.His1509=
|
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NM_001354260.2:c.4341T>C
|
NP_001341189.1:p.His1447=
|
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NM_001354261.2:c.4485T>C
|
NP_001341190.1:p.His1495=
|
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NM_001354262.2:c.4464T>C
|
NP_001341191.1:p.His1488=
|
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NM_001354264.2:c.4461T>C
|
NP_001341193.1:p.His1487=
|
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NM_001354265.2:c.4623T>C
|
NP_001341194.1:p.His1541=
|
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NM_001354266.2:c.4440T>C
|
NP_001341195.1:p.His1480=
|
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NM_001354267.2:c.4440T>C
|
NP_001341196.1:p.His1480=
|
|
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NM_001354268.2:c.4428T>C
|
NP_001341197.1:p.His1476=
|
|
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NM_001354269.3:c.4413T>C
|
NP_001341198.1:p.His1471=
|
|
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NM_001354270.2:c.4401T>C
|
NP_001341199.1:p.His1467=
|
|
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NM_001354271.2:c.4341T>C
|
NP_001341200.1:p.His1447=
|
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NM_001354272.2:c.4497T>C
|
NP_001341201.1:p.His1499=
|
|
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NM_001354273.2:c.4326T>C
|
NP_001341202.1:p.His1442=
|
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NM_001354274.2:c.4392T>C
|
NP_001341203.1:p.His1464=
|
|
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NM_001354275.2:c.4464T>C
|
NP_001341204.1:p.His1488=
|
|
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NM_001354276.2:c.4440T>C
|
NP_001341205.1:p.His1480=
|
|
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NM_001354277.2:c.4242T>C
|
NP_001341206.1:p.His1414=
|
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NM_001354278.2:c.2154T>C
|
NP_001341207.1:p.His718=
|
|
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NM_001354279.2:c.2190T>C
|
NP_001341208.1:p.His730=
|
|
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NM_001354280.2:c.2175T>C
|
NP_001341209.1:p.His725=
|
|
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NM_001354281.2:c.2154T>C
|
NP_001341210.1:p.His718=
|
|
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NM_001354282.2:c.2190T>C
|
NP_001341211.1:p.His730=
|
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NM_001386142.1:c.10647T>C
|
NP_001373071.1:p.His3549=
|
|
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NM_001386143.1:c.4563T>C
|
NP_001373072.1:p.His1521=
|
|
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NM_001386144.1:c.4671T>C
|
NP_001373073.1:p.His1557=
|
|
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NM_001386146.1:c.4407T>C
|
NP_001373075.1:p.His1469=
|
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NM_001386147.1:c.4452T>C
|
NP_001373076.1:p.His1484=
|
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NM_001386148.2:c.4611T>C
|
NP_001373077.1:p.His1537=
|
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NM_001386149.1:c.4407T>C
|
NP_001373078.1:p.His1469=
|
|
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NM_001386150.1:c.4407T>C
|
NP_001373079.1:p.His1469=
|
|
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NM_001386151.1:c.4341T>C
|
NP_001373080.1:p.His1447=
|
|
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NM_001386152.1:c.4683T>C
|
NP_001373081.1:p.His1561=
|
|
|
NM_001386153.1:c.4407T>C
|
NP_001373082.1:p.His1469=
|
|
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NM_001386154.1:c.4392T>C
|
NP_001373083.1:p.His1464=
|
|
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NM_001386156.1:c.4365T>C
|
NP_001373085.1:p.His1455=
|
|
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NM_001386157.1:c.4242T>C
|
NP_001373086.1:p.His1414=
|
|
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NM_001386158.1:c.4143T>C
|
NP_001373087.1:p.His1381=
|
|
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NM_001386160.1:c.4470T>C
|
NP_001373089.1:p.His1490=
|
|
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NM_001386161.1:c.4560T>C
|
NP_001373090.1:p.His1520=
|
|
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NM_001386162.1:c.4440T>C
|
NP_001373091.1:p.His1480=
|
|
|
NM_001386166.1:c.7281T>C
|
NP_001373095.1:p.His2427=
|
|
|
NM_001386167.1:c.1026T>C
|
NP_001373096.1:p.His342=
|
|
|
NM_001386174.1:c.11022T>C
|
NP_001373103.1:p.His3674=
|
|
|
NM_001386175.1:c.10998T>C
|
NP_001373104.1:p.His3666=
|
|
|
NM_001386186.2:c.4611T>C
|
NP_001373115.1:p.His1537=
|
|
|
NM_001386187.2:c.4491T>C
|
NP_001373116.1:p.His1497=
|
|
|
NM_020977.5:c.4626T>C
|
NP_066187.2:p.His1542=
|
|
