Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.6877739_6877741del | CA2686023118 | DEFB1 | c.61+58_61+60del (n.61+58_61+60del) | gnomAD v4 |
8 | g.6877738A= | CA1761188549 | DEFB1 | c.61+59T= (n.61+59T=) | |
8 | g.6877738A>G | CA1761188550 | DEFB1 | c.61+59T>C (n.61+59T>C) | dbSNP gnomAD v4 |
8 | g.6877739T>G | CA1761188552 | DEFB1 | c.61+58A>C (n.61+58A>C) | dbSNP gnomAD v4 |
8 | g.6877739T= | CA1761188551 | DEFB1 | c.61+58A= (n.61+58A=) | |
8 | g.6877740C= | CA1761188553 | DEFB1 | c.61+57G= (n.61+57G=) | |
8 | g.6877740C>G | CA2579088540 | DEFB1 | c.61+57G>C (n.61+57G>C) | gnomAD v4 |
8 | g.6877740C>T | CA1761188554 | DEFB1 | c.61+57G>A (n.61+57G>A) | dbSNP |
8 | g.6877742G>A | CA1761188556 | DEFB1 | c.61+55C>T (n.61+55C>T) | dbSNP gnomAD v4 |
8 | g.6877742G>C | CA2686023120 | DEFB1 | c.61+55C>G (n.61+55C>G) | gnomAD v4 |
8 | g.6877742G= | CA1761188555 | DEFB1 | c.61+55C= (n.61+55C=) | |
8 | g.6877742G>T | CA2579088541 | DEFB1 | c.61+55C>A (n.61+55C>A) | gnomAD v4 |
8 | g.6877743C>A | CA2686023121 | DEFB1 | c.61+54G>T (n.61+54G>T) | gnomAD v4 |
8 | g.6877743C= | CA1761188557 | DEFB1 | c.61+54G= (n.61+54G=) | |
8 | g.6877743C>T | CA1110233953 | DEFB1 | c.61+54G>A (n.61+54G>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6877744C>A | CA2686023123 | DEFB1 | c.61+53G>T (n.61+53G>T) | gnomAD v4 |
8 | g.6877744C>G | CA2579088542 | DEFB1 | c.61+53G>C (n.61+53G>C) | gnomAD v4 |
8 | g.6877744C>T | CA2686023122 | DEFB1 | c.61+53G>A (n.61+53G>A) | gnomAD v4 |
8 | g.6877745C>A | CA2686023124 | DEFB1 | c.61+52G>T (n.61+52G>T) | gnomAD v4 |
8 | g.6877745C= | CA1761188558 | DEFB1 | c.61+52G= (n.61+52G=) | |
8 | g.6877745C>T | CA854608960 | DEFB1 | c.61+52G>A (n.61+52G>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6877746C>A | CA2686023125 | DEFB1 | c.61+51G>T (n.61+51G>T) | gnomAD v4 |
8 | g.6877746C= | CA1761188559 | DEFB1 | c.61+51G= (n.61+51G=) | |
8 | g.6877746C>T | CA1761188560 | DEFB1 | c.61+51G>A (n.61+51G>A) | dbSNP gnomAD v4 |
8 | g.6877747A= | CA1761188561 | DEFB1 | c.61+50T= (n.61+50T=) | |
8 | g.6877747A>G | CA4612854 | DEFB1 | c.61+50T>C (n.61+50T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877747A>T | CA1110233957 | DEFB1 | c.61+50T>A (n.61+50T>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6877748T>C | CA1761188563 | DEFB1 | c.61+49A>G (n.61+49A>G) | dbSNP gnomAD v4 |
8 | g.6877748T>G | CA2686023126 | DEFB1 | c.61+49A>C (n.61+49A>C) | dbSNP gnomAD v4 |
8 | g.6877748T= | CA1761188562 | DEFB1 | c.61+49A= (n.61+49A=) | |
8 | g.6877749dup | CA4612855 | DEFB1 | c.61+49dup (n.61+49dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.6877750G>A | CA2686023127 | DEFB1 | c.61+47C>T (n.61+47C>T) | gnomAD v4 |
8 | g.6877750G= | CA1761188564 | DEFB1 | c.61+47C= (n.61+47C=) | |
8 | g.6877750G>T | CA4612856 | DEFB1 | c.61+47C>A (n.61+47C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877751T>C | CA2778897134 | DEFB1 | c.61+46A>G (n.61+46A>G) | |
8 | g.6877752C>A | CA1761188566 | DEFB1 | c.61+45G>T (n.61+45G>T) | dbSNP gnomAD v4 |
8 | g.6877752C= | CA1761188565 | DEFB1 | c.61+45G= (n.61+45G=) | |
8 | g.6877755del | CA2686023128 | DEFB1 | c.61+45del (n.61+45del) | gnomAD v4 |
8 | g.6877753C>A | CA2686023129 | DEFB1 | c.61+44G>T (n.61+44G>T) | gnomAD v4 |
8 | g.6877754C>A | CA2686023130 | DEFB1 | c.61+43G>T (n.61+43G>T) | gnomAD v4 |
8 | g.6877754C= | CA1761188567 | DEFB1 | c.61+43G= (n.61+43G=) | |
8 | g.6877754C>G | CA2686023131 | DEFB1 | c.61+43G>C (n.61+43G>C) | dbSNP gnomAD v4 |
8 | g.6877754C>T | CA854608969 | DEFB1 | c.61+43G>A (n.61+43G>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6877755C>A | CA4612857 | DEFB1 | c.61+42G>T (n.61+42G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877755C= | CA1761188568 | DEFB1 | c.61+42G= (n.61+42G=) | |
8 | g.6877755C>T | CA2686023132 | DEFB1 | c.61+42G>A (n.61+42G>A) | gnomAD v4 |
8 | g.6877756A>G | CA2686023133 | DEFB1 | c.61+41T>C (n.61+41T>C) | gnomAD v4 |
8 | g.6877757G= | CA1761188569 | DEFB1 | c.61+40C= (n.61+40C=) | |
8 | g.6877757G>T | CA579664745 | DEFB1 | c.61+40C>A (n.61+40C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877758C>G | CA2579088543 | DEFB1 | c.61+39G>C (n.61+39G>C) | gnomAD v4 |