6495170 |
c.1540+4_1540+7delAGTA |
p.? |
Chr.7:
148814907-148814910
on Build GRCh38
|
3635737 |
c.1473T>G |
p.C491W |
Chr.7:
148814981-148814981
on Build GRCh38
|
5766821 |
c.1511G>C |
p.C504S |
Chr.7:
148814943-148814943
on Build GRCh38
|
1087043 |
c.1634A>C |
p.Q545P |
Chr.7:
148814952-148814952
on Build GRCh38
|
7294157 |
c.1433T>C |
p.V478A |
Chr.7:
148815021-148815021
on Build GRCh38
|
7366858 |
c.1571A>T |
p.N524I |
Chr.7:
148815015-148815015
on Build GRCh38
|
5751759 |
c.1450_1451insA |
p.C484fs*1 |
Chr.7:
148815003-148815004
on Build GRCh38
|
4168151 |
c.1540+5G>A |
p.? |
Chr.7:
148814909-148814909
on Build GRCh38
|
744994 |
c.1667C>G |
p.S556* |
Chr.7:
148814919-148814919
on Build GRCh38
|
122928 |
c.1481C>T |
p.S494L |
Chr.7:
148814973-148814973
on Build GRCh38
|
5990001 |
c.1622G>A |
p.C541Y |
Chr.7:
148814964-148814964
on Build GRCh38
|
6980986 |
c.1594C>T |
p.R532W |
Chr.7:
148814992-148814992
on Build GRCh38
|
6930314 |
c.1537G>C |
p.E513Q |
Chr.7:
148814917-148814917
on Build GRCh38
|
7412728 |
c.1672+2T>C |
p.? |
Chr.7:
148814912-148814912
on Build GRCh38
|
6970079 |
c.1637A>T |
p.N546I |
Chr.7:
148814949-148814949
on Build GRCh38
|
6930313 |
c.1669G>C |
p.E557Q |
Chr.7:
148814917-148814917
on Build GRCh38
|
5751758 |
c.1582_1583insA |
p.C528fs*1 |
Chr.7:
148815003-148815004
on Build GRCh38
|
744995 |
c.1535C>G |
p.S512* |
Chr.7:
148814919-148814919
on Build GRCh38
|
133051 |
c.1657C>T |
p.Q553* |
Chr.7:
148814929-148814929
on Build GRCh38
|
6918210 |
c.1495A>T |
p.I499L |
Chr.7:
148814959-148814959
on Build GRCh38
|
6907359 |
c.1548C>G |
p.D516E |
Chr.7:
148815038-148815038
on Build GRCh38
|
3366844 |
c.1633C>T |
p.Q545* |
Chr.7:
148814953-148814953
on Build GRCh38
|
4168148 |
c.1672+5G>T |
p.? |
Chr.7:
148814909-148814909
on Build GRCh38
|
4682158 |
c.1476C>A |
p.D492E |
Chr.7:
148814978-148814978
on Build GRCh38
|
1087044 |
c.1502A>C |
p.Q501P |
Chr.7:
148814952-148814952
on Build GRCh38
|
7366859 |
c.1439A>T |
p.N480I |
Chr.7:
148815015-148815015
on Build GRCh38
|
6949860 |
c.1517A>C |
p.K506T |
Chr.7:
148814937-148814937
on Build GRCh38
|
3635736 |
c.1605T>G |
p.C535W |
Chr.7:
148814981-148814981
on Build GRCh38
|
3259642 |
c.1504A>C |
p.N502H |
Chr.7:
148814950-148814950
on Build GRCh38
|
6495171 |
c.1642T>G |
p.C548G |
Chr.7:
148814944-148814944
on Build GRCh38
|
5731194 |
c.1638T>A |
p.N546K |
Chr.7:
148814948-148814948
on Build GRCh38
|
1315856 |
c.1642_1643insT |
p.C548fs*2 |
Chr.7:
148814943-148814944
on Build GRCh38
|
6495172 |
c.1510T>G |
p.C504G |
Chr.7:
148814944-148814944
on Build GRCh38
|
5990002 |
c.1490G>A |
p.C497Y |
Chr.7:
148814964-148814964
on Build GRCh38
|
4682157 |
c.1608C>A |
p.D536E |
Chr.7:
148814978-148814978
on Build GRCh38
|
6918209 |
c.1627A>T |
p.I543L |
Chr.7:
148814959-148814959
on Build GRCh38
|
3259641 |
c.1636A>C |
p.N546H |
Chr.7:
148814950-148814950
on Build GRCh38
|
4168149 |
c.1540+5G>T |
p.? |
Chr.7:
148814909-148814909
on Build GRCh38
|
744992 |
c.1657C>G |
p.Q553E |
Chr.7:
148814929-148814929
on Build GRCh38
|
1716033 |
c.1427A>C |
p.N476T |
Chr.7:
148815027-148815027
on Build GRCh38
|
5005953 |
c.1464G>A |
p.R488R |
Chr.7:
148814990-148814990
on Build GRCh38
|
5766820 |
c.1643G>C |
p.C548S |
Chr.7:
148814943-148814943
on Build GRCh38
|
7294156 |
c.1565T>C |
p.V522A |
Chr.7:
148815021-148815021
on Build GRCh38
|
4384278 |
c.1582T>C |
p.C528R |
Chr.7:
148815004-148815004
on Build GRCh38
|
5005952 |
c.1596G>A |
p.R532R |
Chr.7:
148814990-148814990
on Build GRCh38
|
3366845 |
c.1501C>T |
p.Q501* |
Chr.7:
148814953-148814953
on Build GRCh38
|
144176 |
c.1672+2_1673+3insCCT |
p.? |
Chr.7:
148814911-148814912
on Build GRCh38
|
6970080 |
c.1505A>T |
p.N502I |
Chr.7:
148814949-148814949
on Build GRCh38
|
1315854 |
c.1588C>A |
p.H530N |
Chr.7:
148814998-148814998
on Build GRCh38
|
6949859 |
c.1649A>C |
p.K550T |
Chr.7:
148814937-148814937
on Build GRCh38
|
122927 |
c.1613C>T |
p.S538L |
Chr.7:
148814973-148814973
on Build GRCh38
|
744993 |
c.1525C>G |
p.Q509E |
Chr.7:
148814929-148814929
on Build GRCh38
|
1195186 |
c.1478G>A |
p.S493N |
Chr.7:
148814976-148814976
on Build GRCh38
|
2270987 |
c.1660T>C |
p.C554R |
Chr.7:
148814926-148814926
on Build GRCh38
|
5945123 |
c.1642T>C |
p.C548R |
Chr.7:
148814944-148814944
on Build GRCh38
|
6980987 |
c.1462C>T |
p.R488W |
Chr.7:
148814992-148814992
on Build GRCh38
|
4168150 |
c.1672+5G>A |
p.? |
Chr.7:
148814909-148814909
on Build GRCh38
|
7410027 |
c.1672+2_1672+3insT |
p.? |
Chr.7:
148814911-148814912
on Build GRCh38
|
7412596 |
c.1643_1643delG |
p.C548fs*127 |
Chr.7:
148814943-148814943
on Build GRCh38
|
1195185 |
c.1610G>A |
p.S537N |
Chr.7:
148814976-148814976
on Build GRCh38
|
6495169 |
c.1672+4_1672+7delAGTA |
p.? |
Chr.7:
148814907-148814910
on Build GRCh38
|
5731193 |
c.1628T>A |
p.I543K |
Chr.7:
148814958-148814958
on Build GRCh38
|
1716032 |
c.1559A>C |
p.N520T |
Chr.7:
148815027-148815027
on Build GRCh38
|
4384279 |
c.1450T>C |
p.C484R |
Chr.7:
148815004-148815004
on Build GRCh38
|