NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
NM_000094.4(COL7A1):c.1383A>G (p.Val461=)
|
rs112805032
|
0.00414
|
NM_000094.4(COL7A1):c.5778C>T (p.Leu1926=)
|
rs113151410
|
0.00384
|
NM_000094.4(COL7A1):c.683-8A>G
|
rs113167762
|
0.00363
|
NM_000094.4(COL7A1):c.54G>C (p.Ala18=)
|
rs35899847
|
0.00343
|
NM_000094.4(COL7A1):c.6937-9C>G
|
rs143589222
|
0.00323
|
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)
|
rs2228563
|
0.00287
|
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)
|
rs35623035
|
0.00285
|
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)
|
rs146901730
|
0.00220
|
NM_000094.4(COL7A1):c.3889G>A (p.Glu1297Lys)
|
rs149881350
|
0.00138
|
NM_000094.4(COL7A1):c.4068C>T (p.Ile1356=)
|
rs146913953
|
0.00111
|
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)
|
rs142566193
|
0.00109
|
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu)
|
rs149267939
|
0.00098
|
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)
|
rs143221297
|
0.00061
|
NM_000094.4(COL7A1):c.5343C>T (p.Ser1781=)
|
rs147919436
|
0.00057
|
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=)
|
rs150776274
|
0.00055
|
NM_000094.4(COL7A1):c.5769G>A (p.Glu1923=)
|
rs143843471
|
0.00046
|
NM_000094.4(COL7A1):c.4636G>C (p.Gly1546Arg)
|
rs73831831
|
0.00045
|
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val)
|
rs144825552
|
0.00044
|
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg)
|
rs139622306
|
0.00043
|
NM_000094.4(COL7A1):c.2544C>T (p.Val848=)
|
rs139545952
|
0.00041
|
NM_000094.4(COL7A1):c.2106C>T (p.Val702=)
|
rs75551775
|
0.00039
|
NM_000094.4(COL7A1):c.4992A>C (p.Gly1664=)
|
rs139988431
|
0.00036
|
NM_000094.4(COL7A1):c.1836G>T (p.Thr612=)
|
rs151186709
|
0.00035
|
NM_000094.4(COL7A1):c.2600C>T (p.Pro867Leu)
|
rs191043504
|
0.00034
|
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys)
|
rs144557024
|
0.00034
|
NM_000094.4(COL7A1):c.8541T>C (p.Pro2847=)
|
rs79473918
|
0.00034
|
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His)
|
rs146934952
|
0.00031
|
NM_000094.4(COL7A1):c.6936+8T>C
|
rs374882140
|
0.00030
|
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)
|
rs142568125
|
0.00030
|
NM_000094.4(COL7A1):c.7825A>G (p.Ile2609Val)
|
rs201839881
|
0.00029
|
NM_000094.4(COL7A1):c.8047-4C>T
|
rs185429200
|
0.00029
|
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
|
rs142059751
|
0.00026
|
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met)
|
rs376090628
|
0.00025
|
NM_000094.4(COL7A1):c.3277-7A>G
|
rs376192100
|
0.00025
|
NM_000094.4(COL7A1):c.1857A>G (p.Gly619=)
|
rs145812249
|
0.00024
|
NM_000094.4(COL7A1):c.4636-3C>T
|
rs200981821
|
0.00024
|
NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys)
|
rs199819125
|
0.00024
|
NM_000094.4(COL7A1):c.1241-4G>A
|
rs201605314
|
0.00021
|
NM_000094.4(COL7A1):c.4508C>T (p.Ala1503Val)
|
rs150332158
|
0.00021
|
NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln)
|
rs150873722
|
0.00020
|
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr)
|
rs149342284
|
0.00019
|
NM_000094.4(COL7A1):c.7008G>A (p.Gly2336=)
|
rs117723065
|
0.00019
|
NM_000094.4(COL7A1):c.7758+10G>A
|
rs371927547
|
0.00019
|
NM_000094.4(COL7A1):c.1495G>A (p.Val499Met)
|
rs201877942
|
0.00018
|
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
|
rs143352280
|
0.00016
|
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu)
|
rs200138839
|
0.00016
|
NM_000094.4(COL7A1):c.3724-6C>T
|
rs370390884
|
0.00015
|
NM_000094.4(COL7A1):c.3816C>T (p.Gly1272=)
|
rs138190232
|
0.00015
|
NM_000094.4(COL7A1):c.6312T>G (p.Ser2104=)
|
rs142907473
|
0.00015
|
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=)
|
rs369839378
|
0.00014
|
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu)
|
rs144788938
|
0.00014
|
NM_000094.4(COL7A1):c.5798G>A (p.Arg1933Gln)
|
rs201722048
|
0.00013
|
NM_000094.4(COL7A1):c.4780C>T (p.Arg1594Trp)
|
rs267599859
|
0.00012
|
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu)
|
rs199967174
|
0.00011
|
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg)
|
rs200741847
|
0.00011
|
NM_000094.4(COL7A1):c.945C>T (p.Ile315=)
|
rs761431565
|
0.00011
|
NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg)
|
rs202237834
|
0.00010
|
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp)
|
rs147285396
|
0.00010
|
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)
|
rs200972872
|
0.00010
|
NM_000094.4(COL7A1):c.6081C>T (p.Pro2027=)
|
rs375047225
|
0.00010
|
NM_000094.4(COL7A1):c.6500C>T (p.Pro2167Leu)
|
rs200473808
|
0.00010
|
NM_000094.4(COL7A1):c.215C>A (p.Ala72Asp)
|
rs138319290
|
0.00009
|
NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys)
|
rs200802373
|
0.00009
|
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)
|
rs121912856
|
0.00009
|
NM_000094.4(COL7A1):c.1242C>T (p.Asp414=)
|
rs373138319
|
0.00008
|
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn)
|
rs200868430
|
0.00008
|
NM_000094.4(COL7A1):c.3937G>A (p.Ala1313Thr)
|
rs778191454
|
0.00008
|
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg)
|
rs143037856
|
0.00008
|
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser)
|
rs148291967
|
0.00007
|
NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His)
|
rs369881673
|
0.00007
|
NM_000094.4(COL7A1):c.3612G>A (p.Ala1204=)
|
rs762604188
|
0.00006
|
NM_000094.4(COL7A1):c.4287C>T (p.Pro1429=)
|
rs749814590
|
0.00006
|
NM_000094.4(COL7A1):c.447C>T (p.Asp149=)
|
rs372585819
|
0.00006
|
NM_000094.4(COL7A1):c.4666A>G (p.Lys1556Glu)
|
rs777472432
|
0.00006
|
NM_000094.4(COL7A1):c.4719A>G (p.Glu1573=)
|
rs558405095
|
0.00006
|
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=)
|
rs779298653
|
0.00006
|
NM_000094.4(COL7A1):c.6021C>A (p.Asp2007Glu)
|
rs199603961
|
0.00006
|
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)
|
rs372838887
|
0.00006
|
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys)
|
rs145729761
|
0.00006
|
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)
|
rs201728948
|
0.00006
|
NM_000094.4(COL7A1):c.761C>T (p.Ala254Val)
|
rs201916805
|
0.00006
|
NM_000094.4(COL7A1):c.8064C>T (p.Asp2688=)
|
rs546054756
|
0.00006
|
NM_000094.4(COL7A1):c.8322C>T (p.Ala2774=)
|
rs142948995
|
0.00006
|
NM_000094.4(COL7A1):c.8819-3C>T
|
rs148536949
|
0.00006
|
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=)
|
rs138330564
|
0.00005
|
NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val)
|
rs574853557
|
0.00005
|
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)
|
rs146903823
|
0.00005
|
NM_000094.4(COL7A1):c.4012-9C>T
|
rs763087515
|
0.00005
|
NM_000094.4(COL7A1):c.5465C>T (p.Pro1822Leu)
|
rs781197075
|
0.00005
|
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His)
|
rs768326843
|
0.00005
|
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=)
|
rs377732069
|
0.00004
|
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)
|
rs142108058
|
0.00004
|
NM_000094.4(COL7A1):c.2766C>T (p.Asp922=)
|
rs201424023
|
0.00004
|
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=)
|
rs548139799
|
0.00004
|
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His)
|
rs558424479
|
0.00004
|
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
|
rs200290149
|
0.00004
|
NM_000094.4(COL7A1):c.4391C>T (p.Pro1464Leu)
|
rs763147984
|
0.00004
|
NM_000094.4(COL7A1):c.5736+9G>A
|
rs777097228
|
0.00004
|
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys)
|
rs765130674
|
0.00004
|
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
|
rs138626345
|
0.00004
|
NM_000094.4(COL7A1):c.1186A>T (p.Ser396Cys)
|
rs202192755
|
0.00003
|
NM_000094.4(COL7A1):c.1936G>C (p.Asp646His)
|
rs765663530
|
0.00003
|
NM_000094.4(COL7A1):c.2100A>C (p.Ser700=)
|
rs756201098
|
0.00003
|
NM_000094.4(COL7A1):c.2587C>T (p.Pro863Ser)
|
rs757643340
|
0.00003
|
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile)
|
rs562548943
|
0.00003
|
NM_000094.4(COL7A1):c.4996C>T (p.Arg1666Trp)
|
rs764442838
|
0.00003
|
NM_000094.4(COL7A1):c.6188G>A (p.Arg2063Gln)
|
rs2229825
|
0.00003
|
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=)
|
rs761393259
|
0.00003
|
NM_000094.4(COL7A1):c.6293A>C (p.Glu2098Ala)
|
rs886058635
|
0.00003
|
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala)
|
rs772457877
|
0.00003
|
NM_000094.4(COL7A1):c.682+1G>A
|
rs775288140
|
0.00003
|
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=)
|
rs763764765
|
0.00003
|
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter)
|
rs143457874
|
0.00003
|
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=)
|
rs748854889
|
0.00003
|
NM_000094.4(COL7A1):c.2169C>T (p.His723=)
|
rs147643230
|
0.00002
|
NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met)
|
rs377763372
|
0.00002
|
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)
|
rs773201784
|
0.00002
|
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val)
|
rs546776797
|
0.00002
|
NM_000094.4(COL7A1):c.4636-9T>C
|
rs760840151
|
0.00002
|
NM_000094.4(COL7A1):c.477T>C (p.Ala159=)
|
rs910778254
|
0.00002
|
NM_000094.4(COL7A1):c.5350G>C (p.Asp1784His)
|
rs200632851
|
0.00002
|
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)
|
rs756258247
|
0.00002
|
NM_000094.4(COL7A1):c.5532+8T>C
|
rs1321882939
|
0.00002
|
NM_000094.4(COL7A1):c.5701-10C>T
|
rs1471404340
|
0.00002
|
NM_000094.4(COL7A1):c.5913G>T (p.Leu1971=)
|
rs754578634
|
0.00002
|
NM_000094.4(COL7A1):c.6045G>A (p.Gly2015=)
|
rs934784670
|
0.00002
|
NM_000094.4(COL7A1):c.611T>C (p.Leu204Ser)
|
rs745939385
|
0.00002
|
NM_000094.4(COL7A1):c.7104+1G>A
|
rs772756089
|
0.00002
|
NM_000094.4(COL7A1):c.8205C>T (p.Pro2735=)
|
rs535006469
|
0.00002
|
NM_000094.4(COL7A1):c.1403G>A (p.Arg468His)
|
rs768672251
|
0.00001
|
NM_000094.4(COL7A1):c.1561G>A (p.Gly521Arg)
|
rs1383489466
|
0.00001
|
NM_000094.4(COL7A1):c.1717G>C (p.Val573Leu)
|
rs1286113919
|
0.00001
|
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp)
|
rs200762860
|
0.00001
|
NM_000094.4(COL7A1):c.2064A>G (p.Pro688=)
|
rs774502545
|
0.00001
|
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)
|
rs549271654
|
0.00001
|
NM_000094.4(COL7A1):c.2315-3C>T
|
rs1042769826
|
0.00001
|
NM_000094.4(COL7A1):c.2557G>A (p.Gly853Ser)
|
rs773229775
|
0.00001
|
NM_000094.4(COL7A1):c.2852G>A (p.Arg951His)
|
rs540205999
|
0.00001
|
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp)
|
rs763751979
|
0.00001
|
NM_000094.4(COL7A1):c.302G>T (p.Gly101Val)
|
rs973642161
|
0.00001
|
NM_000094.4(COL7A1):c.3136C>A (p.Pro1046Thr)
|
rs374283870
|
0.00001
|
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)
|
rs778777140
|
0.00001
|
NM_000094.4(COL7A1):c.3831+3G>A
|
rs767241808
|
0.00001
|
NM_000094.4(COL7A1):c.3888C>T (p.Gly1296=)
|
rs375511803
|
0.00001
|
NM_000094.4(COL7A1):c.3893G>A (p.Arg1298Lys)
|
rs530442803
|
0.00001
|
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter)
|
rs761234904
|
0.00001
|
NM_000094.4(COL7A1):c.4162C>T (p.Arg1388Cys)
|
rs565472139
|
0.00001
|
NM_000094.4(COL7A1):c.4214G>A (p.Arg1405His)
|
rs2045011505
|
0.00001
|
NM_000094.4(COL7A1):c.4278G>A (p.Pro1426=)
|
rs749738987
|
0.00001
|
NM_000094.4(COL7A1):c.4635+10G>A
|
rs749722600
|
0.00001
|
NM_000094.4(COL7A1):c.4888C>T (p.Arg1630Ter)
|
rs121912847
|
0.00001
|
NM_000094.4(COL7A1):c.4997G>A (p.Arg1666Gln)
|
rs1028574312
|
0.00001
|
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter)
|
rs760063197
|
0.00001
|
NM_000094.4(COL7A1):c.5387A>G (p.Asn1796Ser)
|
rs973076467
|
0.00001
|
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=)
|
rs776433840
|
0.00001
|
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=)
|
rs371009419
|
0.00001
|
NM_000094.4(COL7A1):c.573C>G (p.Thr191=)
|
rs776540069
|
0.00001
|
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)
|
rs763329165
|
0.00001
|
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu)
|
rs377112899
|
0.00001
|
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)
|
rs121912855
|
0.00001
|
NM_000094.4(COL7A1):c.6280-8G>A
|
rs1343979395
|
0.00001
|
NM_000094.4(COL7A1):c.6447C>T (p.Asp2149=)
|
rs199843749
|
0.00001
|
NM_000094.4(COL7A1):c.6457-3C>T
|
rs1175388777
|
0.00001
|
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met)
|
rs757102252
|
0.00001
|
NM_000094.4(COL7A1):c.6943C>G (p.Pro2315Ala)
|
rs1434362269
|
0.00001
|
NM_000094.4(COL7A1):c.6954T>C (p.Leu2318=)
|
rs1054273238
|
0.00001
|
NM_000094.4(COL7A1):c.6977C>A (p.Pro2326Gln)
|
rs763000800
|
0.00001
|
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter)
|
rs121912854
|
0.00001
|
NM_000094.4(COL7A1):c.7334C>T (p.Pro2445Leu)
|
rs750113696
|
0.00001
|
NM_000094.4(COL7A1):c.7595G>A (p.Arg2532Gln)
|
rs755230641
|
0.00001
|
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg)
|
rs760891216
|
0.00001
|
NM_000094.4(COL7A1):c.7763A>C (p.Gln2588Pro)
|
rs1233028552
|
0.00001
|
NM_000094.4(COL7A1):c.8216A>C (p.Gln2739Pro)
|
rs771892535
|
0.00001
|
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln)
|
rs377182638
|
0.00001
|
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=)
|
rs751768659
|
0.00001
|
NM_000094.4(COL7A1):c.8817A>G (p.Thr2939=)
|
rs766321543
|
0.00001
|
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)
|
rs200882719
|
|
NM_000094.4(COL7A1):c.1532T>C (p.Val511Ala)
|
rs2045702024
|
|
NM_000094.4(COL7A1):c.2178G>T (p.Glu726Asp)
|
rs777401461
|
|
NM_000094.4(COL7A1):c.2382C>T (p.Ile794=)
|
rs1388911281
|
|
NM_000094.4(COL7A1):c.2445C>G (p.Gly815=)
|
rs2045479336
|
|
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn)
|
rs538387822
|
|
NM_000094.4(COL7A1):c.2553C>A (p.Arg851=)
|
rs577279100
|
|
NM_000094.4(COL7A1):c.2634C>T (p.Arg878=)
|
rs201412774
|
|
NM_000094.4(COL7A1):c.2729G>T (p.Arg910Leu)
|
rs373718618
|
|
NM_000094.4(COL7A1):c.2769G>A (p.Gly923=)
|
rs748086542
|
|
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=)
|
rs142681592
|
|
NM_000094.4(COL7A1):c.279C>T (p.Gly93=)
|
rs745864625
|
|
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His)
|
rs570498790
|
|
NM_000094.4(COL7A1):c.317C>T (p.Ala106Val)
|
rs767643638
|
|
NM_000094.4(COL7A1):c.3211G>A (p.Ala1071Thr)
|
rs143245957
|
|
NM_000094.4(COL7A1):c.3551-3T>G
|
rs773263825
|
|
NM_000094.4(COL7A1):c.3731C>T (p.Pro1244Leu)
|
rs2045223332
|
|
NM_000094.4(COL7A1):c.3826C>T (p.Leu1276Phe)
|
rs2045195228
|
|
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs)
|
rs757688782
|
|
NM_000094.4(COL7A1):c.3929C>T (p.Pro1310Leu)
|
rs2045143069
|
|
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=)
|
rs141825319
|
|
NM_000094.4(COL7A1):c.4408C>T (p.Arg1470Trp)
|
rs769297158
|
|
NM_000094.4(COL7A1):c.5058C>T (p.Ser1686=)
|
rs144700737
|
|
NM_000094.4(COL7A1):c.5261dup (p.Gly1755fs)
|
rs1057517723
|
|
NM_000094.4(COL7A1):c.5271+6T>C
|
rs2044571216
|
|
NM_000094.4(COL7A1):c.5352T>C (p.Asp1784=)
|
rs2044549084
|
|
NM_000094.4(COL7A1):c.5425-6_5425-5del
|
rs762085901
|
|
NM_000094.4(COL7A1):c.5532+1G>A
|
rs767182886
|
|
NM_000094.4(COL7A1):c.5626G>C (p.Glu1876Gln)
|
rs930473908
|
|
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter)
|
rs757415879
|
|
NM_000094.4(COL7A1):c.580TTC[5] (p.Phe197dup)
|
rs543646523
|
|
NM_000094.4(COL7A1):c.6270T>A (p.Pro2090=)
|
rs2044195363
|
|
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)
|
rs2044195363
|
|
NM_000094.4(COL7A1):c.642A>T (p.Arg214Ser)
|
rs2045831596
|
|
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)
|
rs768128088
|
|
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg)
|
rs1575430201
|
|
NM_000094.4(COL7A1):c.7080G>A (p.Gly2360=)
|
rs768904830
|
|
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=)
|
rs34360255
|
|
NM_000094.4(COL7A1):c.7191C>T (p.Pro2397=)
|
rs34360255
|
|
NM_000094.4(COL7A1):c.7215C>T (p.Phe2405=)
|
rs779587550
|
|
NM_000094.4(COL7A1):c.7412G>A (p.Arg2471Gln)
|
rs369221071
|
|
NM_000094.4(COL7A1):c.7485+6del
|
rs1339353383
|
|
NM_000094.4(COL7A1):c.8094C>A (p.Gly2698=)
|
rs199936185
|
|
NM_000094.4(COL7A1):c.831G>A (p.Pro277=)
|
rs749004650
|
|
NM_000094.4(COL7A1):c.8479C>T (p.Gln2827Ter)
|
rs387906604
|
|
NM_000094.4(COL7A1):c.8539C>G (p.Pro2847Ala)
|
rs140041143
|
|
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)
|
rs372166543
|
|
NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe)
|
rs903839030
|
|
NM_000094.4(COL7A1):c.887del (p.Gly296fs)
|
rs1131691385
|
|