| 155968292 | CV2261977 | single nucleotide variant | NM_003580.4(NSMAF):c.59+293C>G | not specified [RCV004126470] | uncertain significance | 8 | 58659280 | 58659280 | Human | | name |
| 155953641 | CV2303097 | single nucleotide variant | NM_003580.4(NSMAF):c.59+327C>G | not specified [RCV004156878] | uncertain significance | 8 | 58659246 | 58659246 | Human | | name |
| 329382349 | CV2424440 | single nucleotide variant | NM_003580.4(NSMAF):c.59+350C>G | not specified [RCV004252335] | uncertain significance | 8 | 58659223 | 58659223 | Human | | name |
| 401772893 | CV2720402 | single nucleotide variant | NM_003580.4(NSMAF):c.59+348G>A | not specified [RCV004325706] | uncertain significance | 8 | 58659225 | 58659225 | Human | | name |
| 405710500 | CV3359431 | single nucleotide variant | NM_003580.4(NSMAF):c.59+341G>A | not specified [RCV004493779] | uncertain significance | 8 | 58659232 | 58659232 | Human | | name |
| 405710507 | CV3359432 | single nucleotide variant | NM_003580.4(NSMAF):c.59+344T>C | not specified [RCV004493780] | uncertain significance | 8 | 58659229 | 58659229 | Human | | name |
| 405710540 | CV3359436 | single nucleotide variant | NM_003580.4(NSMAF):c.59+371A>G | not specified [RCV004493784] | uncertain significance | 8 | 58659202 | 58659202 | Human | | name |
| 597707601 | CV3577055 | single nucleotide variant | NM_003580.4(NSMAF):c.59+314C>T | not specified [RCV004840469] | uncertain significance | 8 | 58659259 | 58659259 | Human | | name |
| 598220954 | CV3994753 | single nucleotide variant | NM_003580.4(NSMAF):c.59+329G>C | not specified [RCV005379585] | uncertain significance | 8 | 58659244 | 58659244 | Human | | name |
| 12895960 | CV390571 | duplication | NM_003580.4(NSMAF):c.1126-25_1126-23dup | not specified [RCV000454691] | benign | 8 | 58601546 | 58601547 | Human | | name |
| 598220942 | CV3994751 | single nucleotide variant | NM_003580.4(NSMAF):c.85G>A (p.Glu29Lys) | not specified [RCV005379583] | uncertain significance | 8 | 58643048 | 58643048 | Human | | name |
| 401725591 | CV2721844 | single nucleotide variant | NM_003580.4(NSMAF):c.128A>C (p.His43Pro) | not specified [RCV004326357] | uncertain significance | 8 | 58643005 | 58643005 | Human | | name |
| 597707521 | CV3577044 | single nucleotide variant | NM_003580.4(NSMAF):c.126G>T (p.Leu42Phe) | not specified [RCV004840460] | uncertain significance | 8 | 58643007 | 58643007 | Human | | name |
| 597707560 | CV3577048 | single nucleotide variant | NM_003580.4(NSMAF):c.116A>G (p.Asn39Ser) | not specified [RCV004840464] | uncertain significance | 8 | 58643017 | 58643017 | Human | | name |
| 156378870 | CV2207829 | single nucleotide variant | NM_003580.4(NSMAF):c.329G>C (p.Ser110Thr) | not specified [RCV004084262] | uncertain significance | 8 | 58635193 | 58635193 | Human | | name |
| 155926482 | CV2230631 | single nucleotide variant | NM_003580.4(NSMAF):c.412G>A (p.Asp138Asn) | not specified [RCV004097585] | uncertain significance | 8 | 58623753 | 58623753 | Human | | name |
| 156140455 | CV2280832 | single nucleotide variant | NM_003580.4(NSMAF):c.526C>T (p.Arg176Cys) | not specified [RCV004145091] | uncertain significance | 8 | 58623251 | 58623251 | Human | | name |
| 155963424 | CV2330326 | single nucleotide variant | NM_003580.4(NSMAF):c.741G>T (p.Arg247Ser) | not specified [RCV004180907] | uncertain significance | 8 | 58607787 | 58607787 | Human | | name |
| 156293181 | CV2336403 | single nucleotide variant | NM_003580.4(NSMAF):c.611C>T (p.Thr204Met) | not specified [RCV004194621] | uncertain significance | 8 | 58609680 | 58609680 | Human | | name |
| 156054731 | CV2344656 | single nucleotide variant | NM_003580.4(NSMAF):c.370T>C (p.Tyr124His) | not specified [RCV004197423] | uncertain significance | 8 | 58631510 | 58631510 | Human | | name |
| 155991929 | CV2355558 | single nucleotide variant | NM_003580.4(NSMAF):c.527G>A (p.Arg176His) | not specified [RCV004205405] | uncertain significance | 8 | 58623250 | 58623250 | Human | | name |
| 329359033 | CV2425477 | single nucleotide variant | NM_003580.4(NSMAF):c.820G>A (p.Glu274Lys) | not specified [RCV004251130] | uncertain significance | 8 | 58605975 | 58605975 | Human | | name |
| 329353597 | CV2469334 | single nucleotide variant | NM_003580.4(NSMAF):c.673C>G (p.Leu225Val) | not specified [RCV004280665] | uncertain significance | 8 | 58609618 | 58609618 | Human | | name |
| 401863974 | CV2767448 | single nucleotide variant | NM_003580.4(NSMAF):c.538A>G (p.Thr180Ala) | not specified [RCV004343616] | uncertain significance | 8 | 58623239 | 58623239 | Human | | name |
| 401895889 | CV2779530 | single nucleotide variant | NM_003580.4(NSMAF):c.658C>A (p.Leu220Met) | not specified [RCV004351150] | uncertain significance | 8 | 58609633 | 58609633 | Human | | name |
| 405710596 | CV3359444 | single nucleotide variant | NM_003580.4(NSMAF):c.686C>T (p.Pro229Leu) | not specified [RCV004493792] | uncertain significance | 8 | 58609605 | 58609605 | Human | | name |
| 407476997 | CV3462064 | single nucleotide variant | NM_003580.4(NSMAF):c.631G>C (p.Gly211Arg) | not specified [RCV004638743] | uncertain significance | 8 | 58609660 | 58609660 | Human | | name |
| 407477019 | CV3462070 | single nucleotide variant | NM_003580.4(NSMAF):c.499G>T (p.Ala167Ser) | not specified [RCV004638747] | uncertain significance | 8 | 58623382 | 58623382 | Human | | name |
| 597707509 | CV3577043 | single nucleotide variant | NM_003580.4(NSMAF):c.724C>T (p.Arg242Cys) | not specified [RCV004840459] | uncertain significance | 8 | 58607804 | 58607804 | Human | | name |
| 597707532 | CV3577045 | single nucleotide variant | NM_003580.4(NSMAF):c.637G>T (p.Val213Leu) | not specified [RCV004840461] | uncertain significance | 8 | 58609654 | 58609654 | Human | | name |
| 597643215 | CV3577052 | single nucleotide variant | NM_003580.4(NSMAF):c.329G>A (p.Ser110Asn) | not specified [RCV004832572] | uncertain significance | 8 | 58635193 | 58635193 | Human | | name |
| 597707592 | CV3577053 | single nucleotide variant | NM_003580.4(NSMAF):c.962A>C (p.Asn321Thr) | not specified [RCV004840468] | uncertain significance | 8 | 58603293 | 58603293 | Human | | name |
| 156070610 | CV2232463 | single nucleotide variant | NM_003580.4(NSMAF):c.1063A>G (p.Thr355Ala) | not specified [RCV004099077] | uncertain significance | 8 | 58602120 | 58602120 | Human | | name |
| 156186816 | CV2232700 | single nucleotide variant | NM_003580.4(NSMAF):c.2384C>T (p.Ala795Val) | not specified [RCV004101359] | uncertain significance | 8 | 58586520 | 58586520 | Human | | name |
| 156299900 | CV2244818 | single nucleotide variant | NM_003580.4(NSMAF):c.1271T>G (p.Met424Arg) | not specified [RCV004104581] | uncertain significance | 8 | 58601294 | 58601294 | Human | | name |
| 156199631 | CV2256009 | single nucleotide variant | NM_003580.4(NSMAF):c.2053G>A (p.Ala685Thr) | not specified [RCV004122448] | uncertain significance | 8 | 58590041 | 58590041 | Human | | name |
| 155993965 | CV2281381 | single nucleotide variant | NM_003580.4(NSMAF):c.1047T>A (p.Asp349Glu) | not specified [RCV004141178] | uncertain significance | 8 | 58602136 | 58602136 | Human | | name |
| 156077723 | CV2291672 | single nucleotide variant | NM_003580.4(NSMAF):c.1679T>G (p.Phe560Cys) | not specified [RCV004155955] | uncertain significance | 8 | 58597500 | 58597500 | Human | | name |
| 156007375 | CV2299711 | single nucleotide variant | NM_003580.4(NSMAF):c.2144A>G (p.Asp715Gly) | not specified [RCV004148878] | uncertain significance | 8 | 58589519 | 58589519 | Human | | name |
| 156158690 | CV2314552 | single nucleotide variant | NM_003580.4(NSMAF):c.2320G>A (p.Ala774Thr) | not specified [RCV004168641] | uncertain significance | 8 | 58586584 | 58586584 | Human | | name |
| 156235444 | CV2346358 | single nucleotide variant | NM_003580.4(NSMAF):c.1184C>T (p.Pro395Leu) | not specified [RCV004203840] | uncertain significance | 8 | 58601477 | 58601477 | Human | | name |
| 329353984 | CV2436725 | single nucleotide variant | NM_003580.4(NSMAF):c.1416G>T (p.Gln472His) | not specified [RCV004258093] | uncertain significance | 8 | 58599787 | 58599787 | Human | | name |
| 401726799 | CV2691848 | single nucleotide variant | NM_003580.4(NSMAF):c.2357C>G (p.Thr786Arg) | not specified [RCV004299595] | uncertain significance | 8 | 58586547 | 58586547 | Human | | name |
| 401883675 | CV2754929 | single nucleotide variant | NM_003580.4(NSMAF):c.1705G>A (p.Val569Met) | not specified [RCV004341398] | uncertain significance | 8 | 58597474 | 58597474 | Human | | name |
| 405710493 | CV3359430 | single nucleotide variant | NM_003580.4(NSMAF):c.1061G>A (p.Gly354Glu) | not specified [RCV004493778] | uncertain significance | 8 | 58602122 | 58602122 | Human | | name |
| 405710515 | CV3359433 | single nucleotide variant | NM_003580.4(NSMAF):c.1163A>G (p.Tyr388Cys) | not specified [RCV004493781] | uncertain significance | 8 | 58601498 | 58601498 | Human | | name |
| 405710525 | CV3359434 | single nucleotide variant | NM_003580.4(NSMAF):c.1349A>G (p.Tyr450Cys) | not specified [RCV004493782] | uncertain significance | 8 | 58599854 | 58599854 | Human | | name |
| 405710532 | CV3359435 | single nucleotide variant | NM_003580.4(NSMAF):c.1351G>T (p.Gly451Cys) | not specified [RCV004493783] | uncertain significance | 8 | 58599852 | 58599852 | Human | | name |
| 405710547 | CV3359437 | single nucleotide variant | NM_003580.4(NSMAF):c.1403G>A (p.Arg468Lys) | not specified [RCV004493785] | uncertain significance | 8 | 58599800 | 58599800 | Human | | name |
| 405710555 | CV3359438 | single nucleotide variant | NM_003580.4(NSMAF):c.1849A>G (p.Ile617Val) | not specified [RCV004493786] | uncertain significance | 8 | 58595603 | 58595603 | Human | | name |
| 405710561 | CV3359439 | single nucleotide variant | NM_003580.4(NSMAF):c.1870G>C (p.Glu624Gln) | not specified [RCV004493787] | uncertain significance | 8 | 58595582 | 58595582 | Human | | name |
| 405710567 | CV3359440 | single nucleotide variant | NM_003580.4(NSMAF):c.2221G>A (p.Gly741Ser) | not specified [RCV004493788] | uncertain significance | 8 | 58587692 | 58587692 | Human | | name |
| 405710578 | CV3359441 | single nucleotide variant | NM_003580.4(NSMAF):c.2222G>A (p.Gly741Asp) | not specified [RCV004493789] | uncertain significance | 8 | 58587691 | 58587691 | Human | | name |
| 405710584 | CV3359442 | single nucleotide variant | NM_003580.4(NSMAF):c.2257C>A (p.His753Asn) | not specified [RCV004493790] | uncertain significance | 8 | 58587656 | 58587656 | Human | | name |
| 405710589 | CV3359443 | single nucleotide variant | NM_003580.4(NSMAF):c.2737T>C (p.Trp913Arg) | not specified [RCV004493791] | uncertain significance | 8 | 58584123 | 58584123 | Human | | name |
| 407476991 | CV3462061 | single nucleotide variant | NM_003580.4(NSMAF):c.2086G>T (p.Val696Phe) | not specified [RCV004638742] | uncertain significance | 8 | 58590008 | 58590008 | Human | | name |
| 407477004 | CV3462065 | single nucleotide variant | NM_003580.4(NSMAF):c.2345C>T (p.Thr782Ile) | not specified [RCV004638744] | uncertain significance | 8 | 58586559 | 58586559 | Human | | name |
| 407517084 | CV3462066 | single nucleotide variant | NM_003580.4(NSMAF):c.1066T>C (p.Phe356Leu) | not specified [RCV004650515] | uncertain significance | 8 | 58602117 | 58602117 | Human | | name |
| 407517087 | CV3462067 | single nucleotide variant | NM_003580.4(NSMAF):c.1140A>C (p.Glu380Asp) | not specified [RCV004650516] | uncertain significance | 8 | 58601521 | 58601521 | Human | | name |
| 407477009 | CV3462068 | single nucleotide variant | NM_003580.4(NSMAF):c.2084A>G (p.Asn695Ser) | not specified [RCV004638745] | uncertain significance | 8 | 58590010 | 58590010 | Human | | name |
| 407477013 | CV3462069 | single nucleotide variant | NM_003580.4(NSMAF):c.1523A>G (p.Glu508Gly) | not specified [RCV004638746] | uncertain significance | 8 | 58599294 | 58599294 | Human | | name |
| 407517089 | CV3462071 | single nucleotide variant | NM_003580.4(NSMAF):c.1925G>C (p.Gly642Ala) | not specified [RCV004650517] | uncertain significance | 8 | 58594258 | 58594258 | Human | | name |
| 597707500 | CV3577042 | single nucleotide variant | NM_003580.4(NSMAF):c.1091G>C (p.Gly364Ala) | not specified [RCV004840458] | uncertain significance | 8 | 58602092 | 58602092 | Human | | name |
| 597707540 | CV3577046 | single nucleotide variant | NM_003580.4(NSMAF):c.2381C>T (p.Thr794Met) | not specified [RCV004840462] | uncertain significance | 8 | 58586523 | 58586523 | Human | | name |
| 597707549 | CV3577047 | single nucleotide variant | NM_003580.4(NSMAF):c.1456C>T (p.Pro486Ser) | not specified [RCV004840463] | uncertain significance | 8 | 58599361 | 58599361 | Human | | name |
| 597707566 | CV3577049 | single nucleotide variant | NM_003580.4(NSMAF):c.2272G>A (p.Ala758Thr) | not specified [RCV004840465] | uncertain significance | 8 | 58587641 | 58587641 | Human | | name |
| 597707575 | CV3577050 | single nucleotide variant | NM_003580.4(NSMAF):c.1037C>T (p.Ser346Leu) | not specified [RCV004840466] | uncertain significance | 8 | 58603218 | 58603218 | Human | | name |
| 597707582 | CV3577051 | single nucleotide variant | NM_003580.4(NSMAF):c.1379G>A (p.Ser460Asn) | not specified [RCV004840467] | uncertain significance | 8 | 58599824 | 58599824 | Human | | name |
| 597643223 | CV3577054 | single nucleotide variant | NM_003580.4(NSMAF):c.1199T>C (p.Phe400Ser) | not specified [RCV004832573] | uncertain significance | 8 | 58601462 | 58601462 | Human | | name |
| 597707609 | CV3577056 | single nucleotide variant | NM_003580.4(NSMAF):c.1736A>G (p.Lys579Arg) | not specified [RCV004840470] | uncertain significance | 8 | 58597443 | 58597443 | Human | | name |
| 597707617 | CV3577057 | single nucleotide variant | NM_003580.4(NSMAF):c.2452C>T (p.Arg818Cys) | not specified [RCV004840471] | uncertain significance | 8 | 58585995 | 58585995 | Human | | name |
| 597643230 | CV3577058 | single nucleotide variant | NM_003580.4(NSMAF):c.2483G>A (p.Cys828Tyr) | not specified [RCV004832574] | uncertain significance | 8 | 58585964 | 58585964 | Human | | name |
| 597707623 | CV3577059 | single nucleotide variant | NM_003580.4(NSMAF):c.1318A>G (p.Thr440Ala) | not specified [RCV004840472] | uncertain significance | 8 | 58599984 | 58599984 | Human | | name |
| 598264934 | CV3994748 | single nucleotide variant | NM_003580.4(NSMAF):c.2608G>A (p.Val870Ile) | not specified [RCV005387856] | uncertain significance | 8 | 58585703 | 58585703 | Human | | name |
| 598220935 | CV3994749 | single nucleotide variant | NM_003580.4(NSMAF):c.1109G>A (p.Arg370Gln) | not specified [RCV005379582] | uncertain significance | 8 | 58602074 | 58602074 | Human | | name |
| 598264939 | CV3994750 | single nucleotide variant | NM_003580.4(NSMAF):c.1829A>C (p.Lys610Thr) | not specified [RCV005387857] | uncertain significance | 8 | 58595623 | 58595623 | Human | | name |
| 598220946 | CV3994752 | single nucleotide variant | NM_003580.4(NSMAF):c.1039G>A (p.Glu347Lys) | not specified [RCV005379584] | uncertain significance | 8 | 58603216 | 58603216 | Human | | name |
| 598220963 | CV3994754 | single nucleotide variant | NM_003580.4(NSMAF):c.2644A>G (p.Ile882Val) | not specified [RCV005379586] | uncertain significance | 8 | 58585667 | 58585667 | Human | | name |
